Pepd Variant Search Result - Rat Genome Database

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770 records found for search term Pepd

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405256007	CV3208554	single nucleotide variant	NM_000285.4(PEPD):c.*2G>T	PEPD-related disorder [RCV003939632]	likely benign	19	33387342	33387342	Human		name , trait , alternate_id
11625064	CV343232	single nucleotide variant	NM_000285.4(PEPD):c.-5C>T	Prolidase deficiency [RCV000394199]	uncertain significance	19	33521765	33521765	Human	1	name
11630214	CV349666	single nucleotide variant	NM_000285.4(PEPD):c.-1C>T	Prolidase deficiency [RCV000344339]	uncertain significance	19	33521761	33521761	Human	1	name
11645250	CV333125	single nucleotide variant	NM_000285.3(PEPD):c.-61A>G	Prolidase deficiency [RCV000264609]	uncertain significance	19	33521821	33521821	Human	1	name
11620736	CV343207	single nucleotide variant	NM_000285.4(PEPD):c.*53C>T	Prolidase deficiency [RCV000340578]	benign\|likely benign	19	33387291	33387291	Human	1	name
11617983	CV343234	single nucleotide variant	NM_000285.4(PEPD):c.-30C>G	Prolidase deficiency [RCV000309277]	uncertain significance	19	33521790	33521790	Human	1	name
11622917	CV343243	single nucleotide variant	NM_000285.3(PEPD):c.-38T>C	Prolidase deficiency [RCV000366175]	uncertain significance	19	33521798	33521798	Human	1	name
11632329	CV348563	single nucleotide variant	NM_000285.4(PEPD):c.*52T>C	Prolidase deficiency [RCV000405281]\|not provided [RCV001653598]\|not specified [RCV003401344]	benign	19	33387292	33387292	Human	1	name
11628611	CV348564	single nucleotide variant	NM_000285.4(PEPD):c.*40T>A	Prolidase deficiency [RCV000305636]	uncertain significance	19	33387304	33387304	Human	1	name
28896468	CV880274	single nucleotide variant	NM_000285.4(PEPD):c.*96G>A	Prolidase deficiency [RCV001122855]	uncertain significance	19	33387248	33387248	Human	1	name
152093201	CV1570434	single nucleotide variant	NM_000285.4(PEPD):c.18-8C>G	not provided [RCV002213013]	likely benign	19	33512784	33512784	Human		name
152036937	CV1605709	single nucleotide variant	NM_000285.4(PEPD):c.18-8C>T	not provided [RCV002107147]	likely benign	19	33512784	33512784	Human		name
156256036	CV2090051	single nucleotide variant	NM_000285.4(PEPD):c.17+4A>C	not provided [RCV002877107]	uncertain significance	19	33521740	33521740	Human		name
156139937	CV2109853	single nucleotide variant	NM_000285.4(PEPD):c.17+5G>C	not provided [RCV002928516]	uncertain significance	19	33521739	33521739	Human		name
405156143	CV2890534	single nucleotide variant	NM_000285.4(PEPD):c.17+2T>C	not provided [RCV003561992]	likely pathogenic	19	33521742	33521742	Human		name
405130364	CV3010995	single nucleotide variant	NM_000285.4(PEPD):c.17+8C>G	not provided [RCV003701643]	likely benign	19	33521736	33521736	Human		name
405251438	CV3181288	single nucleotide variant	NM_000285.4(PEPD):c.17+2T>G	not provided [RCV003870290]	likely pathogenic	19	33521742	33521742	Human		name
11616113	CV333095	single nucleotide variant	NM_000285.4(PEPD):c.*155G>A	Prolidase deficiency [RCV000291589]	uncertain significance	19	33387189	33387189	Human	1	name
11621164	CV343199	single nucleotide variant	NM_000285.4(PEPD):c.*211T>C	Prolidase deficiency [RCV000345399]\|not provided [RCV001683320]	benign	19	33387133	33387133	Human	1	name
11652162	CV348586	single nucleotide variant	NM_000285.3(PEPD):c.-130T>C	Prolidase deficiency [RCV000303209]	uncertain significance	19	33521890	33521890	Human	1	name
597955460	CV3841245	single nucleotide variant	NM_000285.4(PEPD):c.18-2A>G	not provided [RCV005191364]	likely pathogenic	19	33512778	33512778	Human		name
28909138	CV880271	single nucleotide variant	NM_000285.4(PEPD):c.*275C>G	Prolidase deficiency [RCV001128557]	uncertain significance	19	33387069	33387069	Human	1	name
28909139	CV880272	single nucleotide variant	NM_000285.4(PEPD):c.*225T>A	Prolidase deficiency [RCV001128558]	uncertain significance	19	33387119	33387119	Human	1	name
28896463	CV880273	single nucleotide variant	NM_000285.4(PEPD):c.*127T>C	Prolidase deficiency [RCV001122854]	uncertain significance	19	33387217	33387217	Human	1	name
126741759	CV1018534	single nucleotide variant	NM_000285.4(PEPD):c.441+1G>A	not provided [RCV002606413]	pathogenic\|likely pathogenic	19	33493289	33493289	Human		name
127259612	CV1084571	single nucleotide variant	NM_000285.4(PEPD):c.740+7G>A	not provided [RCV001402012]	likely benign	19	33413568	33413568	Human		name
127312696	CV1148693	single nucleotide variant	NM_000285.4(PEPD):c.625-6C>T	not provided [RCV001481739]	likely benign	19	33463047	33463047	Human		name
150492909	CV1267039	single nucleotide variant	NM_000285.4(PEPD):c.18-30G>A	not provided [RCV001688066]	benign	19	33512806	33512806	Human		name
150520406	CV1289591	single nucleotide variant	NM_000285.4(PEPD):c.549-1G>T	Prolidase deficiency [RCV001730008]	pathogenic	19	33464063	33464063	Human	1	name
151813170	CV1382138	single nucleotide variant	NM_000285.4(PEPD):c.330-2A>G	not provided [RCV001992026]	likely pathogenic	19	33501003	33501003	Human		name
151772620	CV1402702	single nucleotide variant	NM_000285.4(PEPD):c.504-3C>T	not provided [RCV001896490]	uncertain significance	19	33478093	33478093	Human		name
151888159	CV1434477	single nucleotide variant	NM_000285.4(PEPD):c.740+3A>T	not provided [RCV001887905]	uncertain significance	19	33413572	33413572	Human		name
151869615	CV1438940	single nucleotide variant	NM_000285.4(PEPD):c.504-6C>T	not provided [RCV002035486]	likely benign	19	33478096	33478096	Human		name
151788798	CV1450734	single nucleotide variant	NM_000285.4(PEPD):c.740+6C>T	not provided [RCV001931202]	uncertain significance	19	33413569	33413569	Human		name
151801582	CV1458628	single nucleotide variant	NM_000285.4(PEPD):c.441+4A>C	not provided [RCV002028143]	uncertain significance	19	33493286	33493286	Human		name
151827387	CV1471984	single nucleotide variant	NM_000285.4(PEPD):c.819-1G>A	Prolidase deficiency [RCV003448442]\|not provided [RCV002030464]	likely pathogenic	19	33401870	33401870	Human	1	name
152092779	CV1567851	single nucleotide variant	NM_000285.4(PEPD):c.17+17C>T	not provided [RCV002212959]	likely benign	19	33521727	33521727	Human		name
152134222	CV1601238	single nucleotide variant	NM_000285.4(PEPD):c.17+12G>A	not provided [RCV002099893]	likely benign	19	33521732	33521732	Human		name
152045314	CV1614153	single nucleotide variant	NM_000285.4(PEPD):c.17+12G>C	not provided [RCV002166209]	likely benign	19	33521732	33521732	Human		name
152026595	CV1626526	single nucleotide variant	NM_000285.4(PEPD):c.202-5C>T	not provided [RCV002185208]	likely benign	19	33511160	33511160	Human		name
156375730	CV1899562	single nucleotide variant	NM_000285.4(PEPD):c.18-14T>C	not provided [RCV003092853]	likely benign	19	33512790	33512790	Human		name
156375701	CV1917559	single nucleotide variant	NM_000285.4(PEPD):c.549-9T>C	not provided [RCV002603559]	likely benign	19	33464071	33464071	Human		name
156116720	CV1995627	single nucleotide variant	NM_000285.4(PEPD):c.330-6T>C	not provided [RCV002640151]	likely benign	19	33501007	33501007	Human		name
156386110	CV1998152	single nucleotide variant	NM_000285.4(PEPD):c.548+9G>A	not provided [RCV002654001]	likely benign	19	33478037	33478037	Human		name
156101497	CV2009803	single nucleotide variant	NM_000285.4(PEPD):c.393+5G>A	not provided [RCV002706686]	uncertain significance	19	33500933	33500933	Human		name
155935461	CV2114111	single nucleotide variant	NM_000285.4(PEPD):c.740+5G>A	PEPD-related disorder [RCV003926509]\|not provided [RCV002904100]	likely benign	19	33413570	33413570	Human	1	name , trait , alternate_id
155990436	CV2133703	single nucleotide variant	NM_000285.4(PEPD):c.740+2T>C	not provided [RCV002996541]	likely pathogenic	19	33413573	33413573	Human		name
155995998	CV2171595	single nucleotide variant	NM_000285.4(PEPD):c.671+2T>G	not provided [RCV003034547]	likely pathogenic	19	33462993	33462993	Human		name
156370600	CV2188624	single nucleotide variant	NM_000285.4(PEPD):c.202-6C>A	not provided [RCV003066255]	likely benign	19	33511161	33511161	Human		name
401922931	CV2796629	single nucleotide variant	NM_000285.4(PEPD):c.818+2T>G	PEPD-related disorder [RCV003404248]\|not provided [RCV003778228]	likely pathogenic	19	33411670	33411670	Human	1	name , trait , alternate_id
405044308	CV2859781	single nucleotide variant	NM_000285.4(PEPD):c.393+2T>A	not provided [RCV003579344]	likely pathogenic	19	33500936	33500936	Human		name
402493535	CV2887094	single nucleotide variant	NM_000285.4(PEPD):c.504-1G>T	not provided [RCV003573257]	pathogenic\|likely pathogenic	19	33478091	33478091	Human		name
405131826	CV2905432	single nucleotide variant	NM_000285.4(PEPD):c.504-2A>G	not provided [RCV003560104]	pathogenic	19	33478092	33478092	Human		name
405218993	CV2907668	single nucleotide variant	NM_000285.4(PEPD):c.18-11T>C	not provided [RCV003568127]	likely benign	19	33512787	33512787	Human		name
405182442	CV2909494	single nucleotide variant	NM_000285.4(PEPD):c.442-1G>C	Prolidase deficiency [RCV005208215]\|not provided [RCV003564042]	pathogenic\|likely pathogenic	19	33490058	33490058	Human	1	name
405181813	CV2909516	single nucleotide variant	NM_000285.4(PEPD):c.17+11C>G	not provided [RCV003564048]	likely benign	19	33521733	33521733	Human		name
405178995	CV2913038	single nucleotide variant	NM_000285.4(PEPD):c.17+15T>C	not provided [RCV003563727]	likely benign	19	33521729	33521729	Human		name
405179418	CV2913201	single nucleotide variant	NM_000285.4(PEPD):c.671+8A>G	not provided [RCV003563803]	likely benign	19	33462987	33462987	Human		name
405176770	CV2915791	single nucleotide variant	NM_000285.4(PEPD):c.672-6C>T	not provided [RCV003563605]	likely benign	19	33413649	33413649	Human		name
405070008	CV2936873	single nucleotide variant	NM_000285.4(PEPD):c.201+7C>T	not provided [RCV003659285]	likely benign	19	33512586	33512586	Human		name
405144196	CV2942221	single nucleotide variant	NM_000285.4(PEPD):c.741-2A>G	not provided [RCV003669524]	likely pathogenic	19	33411751	33411751	Human		name
402490267	CV2984662	single nucleotide variant	NM_000285.4(PEPD):c.330-1G>A	not provided [RCV003713708]	likely pathogenic	19	33501002	33501002	Human		name
405189742	CV2987919	single nucleotide variant	NM_000285.4(PEPD):c.504-7C>T	not provided [RCV003706357]	likely benign	19	33478097	33478097	Human		name
405231750	CV2988478	single nucleotide variant	NM_000285.4(PEPD):c.18-16G>T	not provided [RCV003711637]	likely benign	19	33512792	33512792	Human		name
402517041	CV2992294	single nucleotide variant	NM_000285.4(PEPD):c.625-1G>A	not provided [RCV003690013]	likely pathogenic	19	33463042	33463042	Human		name
405117460	CV2992858	single nucleotide variant	NM_000285.4(PEPD):c.17+16C>T	not provided [RCV003723442]	likely benign	19	33521728	33521728	Human		name
402515533	CV2993268	single nucleotide variant	NM_000285.4(PEPD):c.503+7C>G	not provided [RCV003716037]	likely benign	19	33489989	33489989	Human		name
404994456	CV2995878	single nucleotide variant	NM_000285.4(PEPD):c.967+9C>A	not provided [RCV003692495]	likely benign	19	33401712	33401712	Human		name
405077418	CV3008171	single nucleotide variant	NM_000285.4(PEPD):c.201+9C>T	not provided [RCV003716871]	likely benign	19	33512584	33512584	Human		name
402502003	CV3010595	single nucleotide variant	NM_000285.4(PEPD):c.819-8C>T	not provided [RCV003688534]	likely benign	19	33401877	33401877	Human		name
405131856	CV3021883	single nucleotide variant	NM_000285.4(PEPD):c.202-8C>T	not provided [RCV003701767]	likely benign	19	33511163	33511163	Human		name
405088636	CV3025086	single nucleotide variant	NM_000285.4(PEPD):c.503+1G>C	not provided [RCV003699580]	likely pathogenic	19	33489995	33489995	Human		name
405051730	CV3025677	single nucleotide variant	NM_000285.4(PEPD):c.17+20C>T	not provided [RCV003697030]	likely benign	19	33521724	33521724	Human		name
405138102	CV3029485	single nucleotide variant	NM_000285.4(PEPD):c.18-20G>A	not provided [RCV003702273]	likely benign	19	33512796	33512796	Human		name
405076282	CV3031673	single nucleotide variant	NM_000285.4(PEPD):c.17+20C>A	not provided [RCV003698615]	likely benign	19	33521724	33521724	Human		name
402499884	CV3035213	single nucleotide variant	NM_000285.4(PEPD):c.17+13C>A	not provided [RCV003714627]	likely benign	19	33521731	33521731	Human		name
402498531	CV3038241	single nucleotide variant	NM_000285.4(PEPD):c.17+11C>A	not provided [RCV003714502]	likely benign	19	33521733	33521733	Human		name
405134810	CV3051966	single nucleotide variant	NM_000285.4(PEPD):c.819-5C>T	not provided [RCV003725143]	likely benign	19	33401874	33401874	Human		name
405194350	CV3066436	single nucleotide variant	NM_000285.4(PEPD):c.442-5C>T	not provided [RCV003730028]	likely benign	19	33490062	33490062	Human		name
405230175	CV3073144	single nucleotide variant	NM_000285.4(PEPD):c.394-8C>A	not provided [RCV003734760]	likely benign	19	33493345	33493345	Human		name
405075843	CV3140758	single nucleotide variant	NM_000285.4(PEPD):c.17+18C>G	not provided [RCV003833721]	likely benign	19	33521726	33521726	Human		name
405208443	CV3145701	single nucleotide variant	NM_000285.4(PEPD):c.967+8G>C	not provided [RCV003845431]	likely benign	19	33401713	33401713	Human		name
405255626	CV3172607	single nucleotide variant	NM_000285.4(PEPD):c.672-8C>T	not provided [RCV003872545]	likely benign	19	33413651	33413651	Human		name
404996928	CV3172925	single nucleotide variant	NM_000285.4(PEPD):c.17+12G>T	not provided [RCV003882207]	likely benign	19	33521732	33521732	Human		name
402516470	CV3178973	single nucleotide variant	NM_000285.4(PEPD):c.17+14C>T	not provided [RCV003879406]	likely benign	19	33521730	33521730	Human		name
404985562	CV3183725	single nucleotide variant	NM_000285.4(PEPD):c.442-4C>T	not provided [RCV003881002]	likely benign	19	33490061	33490061	Human		name
11623310	CV333119	single nucleotide variant	NM_000285.4(PEPD):c.819-4G>A	Prolidase deficiency [RCV000371406]\|not provided [RCV003556344]	likely benign\|uncertain significance	19	33401873	33401873	Human	1	name
11619215	CV343228	single nucleotide variant	NM_000285.4(PEPD):c.504-9G>A	Prolidase deficiency [RCV000322593]\|not provided [RCV001522941]	benign\|likely benign\|uncertain significance	19	33478099	33478099	Human	1	name
11655759	CV349661	single nucleotide variant	NM_000285.4(PEPD):c.672-9C>G	Prolidase deficiency [RCV000328291]\|not provided [RCV002057496]	likely benign\|uncertain significance	19	33413652	33413652	Human	1	name
596948390	CV3549472	single nucleotide variant	NM_000285.4(PEPD):c.17+90G>A	not provided [RCV004812293]	likely benign	19	33521654	33521654	Human		name
597660983	CV3709484	single nucleotide variant	NM_000285.4(PEPD):c.504-2A>C	Prolidase deficiency [RCV005028470]	likely pathogenic	19	33478092	33478092	Human	1	name
597899455	CV3740941	single nucleotide variant	NM_000285.4(PEPD):c.18-15C>T	not provided [RCV005072104]	likely benign	19	33512791	33512791	Human		name
597905805	CV3781026	single nucleotide variant	NM_000285.4(PEPD):c.202-1G>A	not provided [RCV005127924]	likely pathogenic	19	33511156	33511156	Human		name
597926628	CV3783339	single nucleotide variant	NM_000285.4(PEPD):c.394-2A>T	not provided [RCV005116025]	likely pathogenic	19	33493339	33493339	Human		name
597933371	CV3793384	deletion	NM_000285.4(PEPD):c.393+8del	not provided [RCV005132040]	likely benign	19	33500930	33500930	Human		name
13528880	CV513660	single nucleotide variant	NM_000285.4(PEPD):c.393+4G>A	Prolidase deficiency [RCV000626142]	uncertain significance	19	33500934	33500934	Human	1	name
15184512	CV745403	single nucleotide variant	NM_000285.4(PEPD):c.625-9G>A	not provided [RCV000908296]	benign	19	33463050	33463050	Human		name
15133935	CV760706	single nucleotide variant	NM_000285.4(PEPD):c.394-9A>T	not provided [RCV000920600]	likely benign	19	33493346	33493346	Human		name
15164218	CV760775	single nucleotide variant	NM_000285.4(PEPD):c.548+8C>T	not provided [RCV000926327]	likely benign	19	33478038	33478038	Human		name
15192250	CV776872	single nucleotide variant	NM_000285.4(PEPD):c.672-8C>G	not provided [RCV000933031]	likely benign	19	33413651	33413651	Human		name
21072312	CV792814	single nucleotide variant	NM_000285.4(PEPD):c.504-1G>A	Prolidase deficiency [RCV000991408]\|not provided [RCV001869367]	pathogenic\|likely pathogenic	19	33478091	33478091	Human	1	name
21075014	CV798744	single nucleotide variant	NM_000285.4(PEPD):c.549-1G>A	Prolidase deficiency [RCV000995831]\|not provided [RCV001858822]	pathogenic	19	33464063	33464063	Human	1	name
28906535	CV880728	single nucleotide variant	NM_000285.4(PEPD):c.202-7G>A	Prolidase deficiency [RCV001127104]\|not provided [RCV002070078]	likely benign\|uncertain significance	19	33511162	33511162	Human	1	name
127329456	CV1148694	single nucleotide variant	NM_000285.4(PEPD):c.549-10G>C	not provided [RCV001487420]	likely benign	19	33464072	33464072	Human		name
127331286	CV1148695	single nucleotide variant	NM_000285.4(PEPD):c.202-16C>T	not provided [RCV001488701]	likely benign	19	33511171	33511171	Human		name
127316598	CV1158501	single nucleotide variant	NM_000285.4(PEPD):c.967+20G>C	not provided [RCV001520569]\|not specified [RCV001702904]	benign	19	33401701	33401701	Human		name
127304978	CV1158502	single nucleotide variant	NM_000285.4(PEPD):c.624+16G>A	not provided [RCV001516115]	benign	19	33463971	33463971	Human		name
150480417	CV1221965	single nucleotide variant	NM_000285.4(PEPD):c.968-73A>G	not provided [RCV001616762]\|not specified [RCV003399425]	benign	19	33391552	33391552	Human		name
150503727	CV1223808	single nucleotide variant	NM_000285.4(PEPD):c.442-91C>A	not provided [RCV001621457]	benign	19	33490148	33490148	Human		name
150487146	CV1225860	single nucleotide variant	NM_000285.4(PEPD):c.671+70A>G	not provided [RCV001618021]	benign	19	33462925	33462925	Human		name
150473343	CV1262887	single nucleotide variant	NM_000285.4(PEPD):c.442-30G>A	not provided [RCV001684703]	benign	19	33490087	33490087	Human		name
150495415	CV1272626	single nucleotide variant	NM_000285.4(PEPD):c.18-264T>G	not provided [RCV001688549]	benign	19	33513040	33513040	Human		name
151776013	CV1424335	single nucleotide variant	NM_000285.4(PEPD):c.967+15G>A	not provided [RCV002025814]	likely benign\|uncertain significance	19	33401706	33401706	Human		name
151817326	CV1441144	single nucleotide variant	NM_000285.4(PEPD):c.741-12G>A	not provided [RCV001933801]	uncertain significance	19	33411761	33411761	Human		name
151753908	CV1453774	single nucleotide variant	NM_000285.4(PEPD):c.967+12G>T	not provided [RCV001913260]	likely benign\|uncertain significance	19	33401709	33401709	Human		name
151860307	CV1484908	single nucleotide variant	NM_000285.4(PEPD):c.740+10G>C	not provided [RCV001959143]	likely benign	19	33413565	33413565	Human		name
152126318	CV1533767	single nucleotide variant	NM_000285.4(PEPD):c.330-19C>G	not provided [RCV002136364]	likely benign	19	33501020	33501020	Human		name
152127077	CV1533931	single nucleotide variant	NM_000285.4(PEPD):c.394-10G>A	not provided [RCV002136455]	likely benign	19	33493347	33493347	Human		name
152067908	CV1547548	single nucleotide variant	NM_000285.4(PEPD):c.671+15T>C	not provided [RCV002074699]	likely benign	19	33462980	33462980	Human		name
152151363	CV1550194	single nucleotide variant	NM_000285.4(PEPD):c.819-13C>T	not provided [RCV002202019]	likely benign	19	33401882	33401882	Human		name
152160638	CV1555136	single nucleotide variant	NM_000285.4(PEPD):c.672-18G>A	not provided [RCV002103730]	likely benign	19	33413661	33413661	Human		name
152157904	CV1564287	single nucleotide variant	NM_000285.4(PEPD):c.672-16G>A	not provided [RCV002140419]	likely benign	19	33413659	33413659	Human		name
152065761	CV1564977	single nucleotide variant	NM_000285.4(PEPD):c.393+11G>A	not provided [RCV002090891]	likely benign	19	33500927	33500927	Human		name
152029108	CV1568142	single nucleotide variant	NM_000285.4(PEPD):c.201+13G>A	not provided [RCV002105474]	likely benign	19	33512580	33512580	Human		name
152156649	CV1573098	single nucleotide variant	NM_000285.4(PEPD):c.504-20G>A	not provided [RCV002180232]	likely benign	19	33478110	33478110	Human		name
152172037	CV1597960	single nucleotide variant	NM_000285.4(PEPD):c.330-13G>C	not provided [RCV002162318]	likely benign	19	33501014	33501014	Human		name
152029076	CV1599585	single nucleotide variant	NM_000285.4(PEPD):c.548+15T>C	not provided [RCV002085680]	likely benign	19	33478031	33478031	Human		name
152159725	CV1605836	duplication	NM_000285.4(PEPD):c.671+12dup	not provided [RCV002103564]	likely benign	19	33462982	33462983	Human		name
152152781	CV1609921	single nucleotide variant	NM_000285.4(PEPD):c.818+19C>G	not provided [RCV002179712]	likely benign	19	33411653	33411653	Human		name
152147582	CV1618724	single nucleotide variant	NM_000285.4(PEPD):c.201+12C>T	not provided [RCV002121289]	likely benign	19	33512581	33512581	Human		name
152101958	CV1622050	single nucleotide variant	NM_000285.4(PEPD):c.967+18G>C	not provided [RCV002115461]	likely benign	19	33401703	33401703	Human		name
152108969	CV1623542	single nucleotide variant	NM_000285.4(PEPD):c.548+10G>A	not provided [RCV002215213]	likely benign	19	33478036	33478036	Human		name
152093411	CV1631948	single nucleotide variant	NM_000285.4(PEPD):c.672-17C>T	not provided [RCV002132324]	benign	19	33413660	33413660	Human		name
152040800	CV1644204	single nucleotide variant	NM_000285.4(PEPD):c.624+14C>T	not provided [RCV002126064]	likely benign	19	33463973	33463973	Human		name
152058544	CV1656756	single nucleotide variant	NM_000285.4(PEPD):c.741-17C>A	not provided [RCV002109839]	likely benign	19	33411766	33411766	Human		name
156002096	CV1869515	single nucleotide variant	NM_000285.4(PEPD):c.202-19G>A	not provided [RCV003076639]	likely benign	19	33511174	33511174	Human		name
156352164	CV1870219	single nucleotide variant	NM_000285.4(PEPD):c.818+16G>A	not provided [RCV003064942]	likely benign	19	33411656	33411656	Human		name
156329451	CV1881187	single nucleotide variant	NM_000285.4(PEPD):c.818+15C>T	not provided [RCV003063606]	likely benign	19	33411657	33411657	Human		name
156029032	CV1893460	single nucleotide variant	NM_000285.4(PEPD):c.819-16C>G	not provided [RCV003078010]	likely benign	19	33401885	33401885	Human		name
156149701	CV1964218	single nucleotide variant	NM_000285.4(PEPD):c.625-10C>T	not provided [RCV002572857]	likely benign	19	33463051	33463051	Human		name
156412648	CV1968760	single nucleotide variant	NM_000285.4(PEPD):c.202-10C>T	not provided [RCV002608601]	likely benign	19	33511165	33511165	Human		name
156012545	CV2042085	single nucleotide variant	NM_000285.4(PEPD):c.672-19C>G	not provided [RCV002780222]	likely benign	19	33413662	33413662	Human		name
155997216	CV2064112	single nucleotide variant	NM_000285.4(PEPD):c.740+17G>A	not provided [RCV002843241]	likely benign	19	33413558	33413558	Human		name
155994191	CV2095651	single nucleotide variant	NM_000285.4(PEPD):c.548+11C>T	not provided [RCV002908304]	likely benign	19	33478035	33478035	Human		name
156010339	CV2100018	single nucleotide variant	NM_000285.4(PEPD):c.818+12C>T	not provided [RCV002909071]	likely benign	19	33411660	33411660	Human		name
156236624	CV2158168	single nucleotide variant	NM_000285.4(PEPD):c.330-17T>C	not provided [RCV003025849]	likely benign	19	33501018	33501018	Human		name
155995947	CV2171593	single nucleotide variant	NM_000285.4(PEPD):c.671+13G>C	not provided [RCV003034545]	likely benign	19	33462982	33462982	Human		name
156174767	CV2181383	single nucleotide variant	NM_000285.4(PEPD):c.1344+1G>A	not provided [RCV003057333]	uncertain significance	19	33387889	33387889	Human		name
156127713	CV2184814	single nucleotide variant	NM_000285.4(PEPD):c.393+12G>A	not provided [RCV003039571]	likely benign	19	33500926	33500926	Human		name
405015487	CV2859517	single nucleotide variant	NM_000285.4(PEPD):c.741-15C>T	not provided [RCV003577112]	likely benign	19	33411764	33411764	Human		name
405178305	CV2861238	single nucleotide variant	NM_000285.4(PEPD):c.441+12G>A	not provided [RCV003542959]	likely benign	19	33493278	33493278	Human		name
405175130	CV2864460	single nucleotide variant	NM_000285.4(PEPD):c.441+19G>A	not provided [RCV003542666]	likely benign	19	33493271	33493271	Human		name
405085540	CV2865944	single nucleotide variant	NM_000285.4(PEPD):c.624+15G>C	not provided [RCV003549539]	likely benign	19	33463972	33463972	Human		name
405197378	CV2880199	single nucleotide variant	NM_000285.4(PEPD):c.394-11C>T	not provided [RCV003551007]	likely benign	19	33493348	33493348	Human		name
405239260	CV2886074	single nucleotide variant	NM_000285.4(PEPD):c.818+17G>T	not provided [RCV003557020]	likely benign	19	33411655	33411655	Human		name
402494904	CV2887291	single nucleotide variant	NM_000285.4(PEPD):c.1345-8T>C	not provided [RCV003573330]	likely benign	19	33387489	33387489	Human		name
405149769	CV2892042	single nucleotide variant	NM_000285.4(PEPD):c.441+20G>A	not provided [RCV003561643]	likely benign	19	33493270	33493270	Human		name
405127911	CV2893176	single nucleotide variant	NM_000285.4(PEPD):c.968-17C>G	not provided [RCV003559754]	likely benign	19	33391496	33391496	Human		name
405113490	CV2900774	single nucleotide variant	NM_000285.4(PEPD):c.672-14C>T	not provided [RCV003558206]	likely benign	19	33413657	33413657	Human		name
402471287	CV2904515	single nucleotide variant	NM_000285.4(PEPD):c.393+16C>T	not provided [RCV003570548]	likely benign	19	33500922	33500922	Human		name
405222869	CV2908533	single nucleotide variant	NM_000285.4(PEPD):c.624+18T>C	not provided [RCV003568700]	likely benign	19	33463969	33463969	Human		name
405182167	CV2909611	single nucleotide variant	NM_000285.4(PEPD):c.819-20C>A	not provided [RCV003564085]	likely benign	19	33401889	33401889	Human		name
402478971	CV2909896	single nucleotide variant	NM_000285.4(PEPD):c.967+15G>T	not provided [RCV003571789]	likely benign	19	33401706	33401706	Human		name
405204850	CV2915365	single nucleotide variant	NM_000285.4(PEPD):c.548+12C>T	not provided [RCV003566261]	likely benign	19	33478034	33478034	Human		name
402506902	CV2927878	single nucleotide variant	NM_000285.4(PEPD):c.548+19C>T	not provided [RCV003574482]	likely benign	19	33478027	33478027	Human		name
405066068	CV2937132	single nucleotide variant	NM_000285.4(PEPD):c.819-14T>A	not provided [RCV003663612]	likely benign	19	33401883	33401883	Human		name
405063191	CV2939724	single nucleotide variant	NM_000285.4(PEPD):c.548+20A>T	not provided [RCV003658914]	likely benign	19	33478026	33478026	Human		name
402523672	CV2940395	single nucleotide variant	NM_000285.4(PEPD):c.672-17C>A	not provided [RCV003663495]	likely benign	19	33413660	33413660	Human		name
405160049	CV2955085	single nucleotide variant	NM_000285.4(PEPD):c.441+10T>C	not provided [RCV003670662]	likely benign	19	33493280	33493280	Human		name
405160235	CV2955103	single nucleotide variant	NM_000285.4(PEPD):c.967+15G>C	not provided [RCV003670675]	likely benign	19	33401706	33401706	Human		name
405128464	CV2957278	single nucleotide variant	NM_000285.4(PEPD):c.740+11C>T	not provided [RCV003672189]	likely benign	19	33413564	33413564	Human		name
405146932	CV2959926	single nucleotide variant	NM_000285.4(PEPD):c.671+11A>G	not provided [RCV003669706]	likely benign	19	33462984	33462984	Human		name
405141409	CV2962008	single nucleotide variant	NM_000285.4(PEPD):c.442-10C>G	not provided [RCV003673206]	likely benign	19	33490067	33490067	Human		name
405145168	CV2962541	single nucleotide variant	NM_000285.4(PEPD):c.442-10C>T	not provided [RCV003673577]	likely benign	19	33490067	33490067	Human		name
405226480	CV2967106	single nucleotide variant	NM_000285.4(PEPD):c.967+19G>T	not provided [RCV003681504]	likely benign	19	33401702	33401702	Human		name
404984547	CV2983112	single nucleotide variant	NM_000285.4(PEPD):c.330-11T>C	not provided [RCV003691671]	likely benign	19	33501012	33501012	Human		name
404996217	CV2992513	single nucleotide variant	NM_000285.4(PEPD):c.1152+9G>A	not provided [RCV003692731]	likely benign	19	33391286	33391286	Human		name
405116225	CV2996403	single nucleotide variant	NM_000285.4(PEPD):c.201+10C>T	not provided [RCV003723313]	likely benign	19	33512583	33512583	Human		name
405239193	CV2997019	single nucleotide variant	NM_000285.4(PEPD):c.503+13C>T	not provided [RCV003718810]	likely benign	19	33489983	33489983	Human		name
404989083	CV2998523	single nucleotide variant	NM_000285.4(PEPD):c.329+14T>C	not provided [RCV003692054]	likely benign	19	33511014	33511014	Human		name
405248847	CV3003832	single nucleotide variant	NM_000285.4(PEPD):c.548+11C>G	not provided [RCV003721213]	likely benign	19	33478035	33478035	Human		name
405041756	CV3007569	single nucleotide variant	NM_000285.4(PEPD):c.625-11C>T	not provided [RCV003696377]	likely benign	19	33463052	33463052	Human		name
402489893	CV3011646	single nucleotide variant	NM_000285.4(PEPD):c.624+19C>T	not provided [RCV003687433]	likely benign	19	33463968	33463968	Human		name
402524050	CV3015032	single nucleotide variant	NM_000285.4(PEPD):c.968-18G>C	not provided [RCV003690511]	likely benign	19	33391497	33391497	Human		name
405095038	CV3022826	single nucleotide variant	NM_000285.4(PEPD):c.503+16C>T	not provided [RCV003699993]	likely benign	19	33489980	33489980	Human		name
405224057	CV3035734	single nucleotide variant	NM_000285.4(PEPD):c.967+14C>T	not provided [RCV003710298]	likely benign	19	33401707	33401707	Human		name
405203441	CV3036470	single nucleotide variant	NM_000285.4(PEPD):c.967+18G>T	not provided [RCV003707697]	likely benign	19	33401703	33401703	Human		name
405123685	CV3043224	single nucleotide variant	NM_000285.4(PEPD):c.625-13A>G	not provided [RCV003724164]	likely benign	19	33463054	33463054	Human		name
405091218	CV3044850	single nucleotide variant	NM_000285.4(PEPD):c.394-10G>C	not provided [RCV003717833]	likely benign	19	33493347	33493347	Human		name
405251261	CV3049867	single nucleotide variant	NM_000285.4(PEPD):c.503+17C>A	not provided [RCV003721854]	likely benign	19	33489979	33489979	Human		name
405245396	CV3051488	single nucleotide variant	NM_000285.4(PEPD):c.202-16C>A	not provided [RCV003720286]	likely benign	19	33511171	33511171	Human		name
405178909	CV3056446	single nucleotide variant	NM_000285.4(PEPD):c.741-19C>T	not provided [RCV003728518]	likely benign	19	33411768	33411768	Human		name
405227710	CV3065605	single nucleotide variant	NM_000285.4(PEPD):c.672-19C>T	not provided [RCV003734344]	likely benign	19	33413662	33413662	Human		name
405204748	CV3068002	single nucleotide variant	NM_000285.4(PEPD):c.819-11T>G	not provided [RCV003731190]	likely benign	19	33401880	33401880	Human		name
405046257	CV3071584	single nucleotide variant	NM_000285.4(PEPD):c.503+18A>G	not provided [RCV003740272]	likely benign	19	33489978	33489978	Human		name
405181358	CV3119948	single nucleotide variant	NM_000285.4(PEPD):c.504-15C>G	not provided [RCV003820041]	likely benign	19	33478105	33478105	Human		name
405214044	CV3128285	single nucleotide variant	NM_000285.4(PEPD):c.441+19G>T	not provided [RCV003823709]	likely benign	19	33493271	33493271	Human		name
405195708	CV3128713	single nucleotide variant	NM_000285.4(PEPD):c.330-16T>C	not provided [RCV003821451]	likely benign	19	33501017	33501017	Human		name
405021942	CV3139282	single nucleotide variant	NM_000285.4(PEPD):c.968-14C>T	not provided [RCV003829925]	likely benign	19	33391493	33391493	Human		name
405075724	CV3140751	single nucleotide variant	NM_000285.4(PEPD):c.442-19C>G	not provided [RCV003833714]	likely benign	19	33490076	33490076	Human		name
405190372	CV3156739	single nucleotide variant	NM_000285.4(PEPD):c.671+19C>T	not provided [RCV003859617]	likely benign	19	33462976	33462976	Human		name
405191357	CV3157082	single nucleotide variant	NM_000285.4(PEPD):c.967+17T>C	not provided [RCV003859770]	likely benign	19	33401704	33401704	Human		name
402466104	CV3177398	single nucleotide variant	NM_000285.4(PEPD):c.393+17T>G	not provided [RCV003873029]	likely benign	19	33500921	33500921	Human		name
405253632	CV3178587	single nucleotide variant	NM_000285.4(PEPD):c.671+20C>T	not provided [RCV003871188]	likely benign	19	33462975	33462975	Human		name
405229130	CV3180495	single nucleotide variant	NM_000285.4(PEPD):c.202-18T>C	not provided [RCV003864916]	likely benign	19	33511173	33511173	Human		name
405000245	CV3183925	single nucleotide variant	NM_000285.4(PEPD):c.967+19G>C	not provided [RCV003882508]	likely benign	19	33401702	33401702	Human		name
11661831	CV343218	single nucleotide variant	NM_000285.4(PEPD):c.1153-6C>T	Prolidase deficiency [RCV000380467]\|not provided [RCV002057495]	likely benign\|uncertain significance	19	33388087	33388087	Human	1	name
11629966	CV349656	single nucleotide variant	NM_000285.4(PEPD):c.967+10G>A	Prolidase deficiency [RCV000337247]\|not provided [RCV003718196]	likely benign\|uncertain significance	19	33401711	33401711	Human	1	name
11626632	CV349663	single nucleotide variant	NM_000285.4(PEPD):c.624+15G>A	Prolidase deficiency [RCV000267607]\|not provided [RCV002057497]	likely benign\|uncertain significance	19	33463972	33463972	Human	1	name
597660840	CV3709481	single nucleotide variant	NM_000285.4(PEPD):c.1152+1G>A	Prolidase deficiency [RCV005028467]	likely pathogenic	19	33391294	33391294	Human	1	name
597865724	CV3742386	single nucleotide variant	NM_000285.4(PEPD):c.967+20G>A	not provided [RCV005068002]	likely benign	19	33401701	33401701	Human		name
597945994	CV3755477	single nucleotide variant	NM_000285.4(PEPD):c.741-13C>T	not provided [RCV005078486]	likely benign	19	33411762	33411762	Human		name
597961388	CV3794910	single nucleotide variant	NM_000285.4(PEPD):c.818+17G>C	not provided [RCV005138815]	likely benign	19	33411655	33411655	Human		name
597958290	CV3814794	single nucleotide variant	NM_000285.4(PEPD):c.549-15C>G	not provided [RCV005162919]	likely benign	19	33464077	33464077	Human		name
597857499	CV3822261	single nucleotide variant	NM_000285.4(PEPD):c.740+10G>A	not provided [RCV005174559]	likely benign	19	33413565	33413565	Human		name
597927530	CV3855520	single nucleotide variant	NM_000285.4(PEPD):c.393+18C>T	not provided [RCV005206119]	likely benign	19	33500920	33500920	Human		name
15105358	CV731269	single nucleotide variant	NM_000285.4(PEPD):c.393+10C>T	not provided [RCV000893062]	likely benign	19	33500928	33500928	Human		name
15151151	CV745229	single nucleotide variant	NM_000285.4(PEPD):c.504-10C>T	not provided [RCV000901303]	likely benign	19	33478100	33478100	Human		name
21066542	CV797781	single nucleotide variant	NM_000285.4(PEPD):c.1345-1G>A	not provided [RCV000996828]	likely pathogenic	19	33387482	33387482	Human		name
150335872	CV1165124	single nucleotide variant	NM_000285.4(PEPD):c.968-241A>G	not provided [RCV001530588]	benign	19	33391720	33391720	Human		name
150339512	CV1167734	single nucleotide variant	NM_000285.4(PEPD):c.330-189G>A	not provided [RCV001534290]	benign	19	33501190	33501190	Human		name
150510509	CV1211741	single nucleotide variant	NM_000285.4(PEPD):c.671+101C>T	not provided [RCV001597636]	benign	19	33462894	33462894	Human		name
150478396	CV1218779	deletion	NM_000285.4(PEPD):c.548+137del	not provided [RCV001616406]	benign	19	33477909	33477909	Human		name
150502923	CV1223339	single nucleotide variant	NM_000285.4(PEPD):c.967+218G>A	not provided [RCV001621274]	benign	19	33401503	33401503	Human	14	name
150516082	CV1228232	single nucleotide variant	NM_000285.4(PEPD):c.549-232G>C	not provided [RCV001639038]	benign	19	33464294	33464294	Human		name
150435635	CV1233913	single nucleotide variant	NM_000285.4(PEPD):c.201+244A>G	not provided [RCV001644040]	benign	19	33512349	33512349	Human	1	name
150486992	CV1237260	single nucleotide variant	NM_000285.4(PEPD):c.672-280C>T	not provided [RCV001654108]	benign	19	33413923	33413923	Human		name
150501687	CV1238465	single nucleotide variant	NM_000285.4(PEPD):c.672-235C>T	not provided [RCV001656895]	benign	19	33413878	33413878	Human		name
150464449	CV1241292	single nucleotide variant	NM_000285.4(PEPD):c.740+165C>A	not provided [RCV001649803]	benign	19	33413410	33413410	Human		name
150484256	CV1245259	single nucleotide variant	NM_000285.4(PEPD):c.548+237A>G	not provided [RCV001653436]	benign	19	33477809	33477809	Human		name
150502593	CV1254571	single nucleotide variant	NM_000285.4(PEPD):c.740+127C>T	not provided [RCV001677273]	benign	19	33413448	33413448	Human		name
150507161	CV1256863	single nucleotide variant	NM_000285.4(PEPD):c.624+120A>T	not provided [RCV001678366]	benign	19	33463867	33463867	Human		name
150507508	CV1256951	single nucleotide variant	NM_000285.4(PEPD):c.393+222A>T	not provided [RCV001678454]	benign	19	33500716	33500716	Human		name
150478296	CV1257123	single nucleotide variant	NM_000285.4(PEPD):c.201+125C>T	not provided [RCV001672353]	benign	19	33512468	33512468	Human		name
150491212	CV1267740	single nucleotide variant	NM_000285.4(PEPD):c.819-233T>C	not provided [RCV001687764]	benign	19	33402102	33402102	Human	14	name
150448019	CV1270400	single nucleotide variant	NM_000285.4(PEPD):c.441+146A>G	not provided [RCV001691537]	benign	19	33493144	33493144	Human		name
150474757	CV1271096	single nucleotide variant	NM_000285.4(PEPD):c.967+146G>A	not provided [RCV001695919]	benign	19	33401575	33401575	Human		name
150484591	CV1273827	single nucleotide variant	NM_000285.4(PEPD):c.968-267T>C	not provided [RCV001698530]	benign	19	33391746	33391746	Human		name
150467881	CV1277648	single nucleotide variant	NM_000285.4(PEPD):c.741-154T>C	not provided [RCV001710943]	benign	19	33411903	33411903	Human		name
150483074	CV1280128	single nucleotide variant	NM_000285.4(PEPD):c.671+158T>C	not provided [RCV001715127]	benign	19	33462837	33462837	Human		name
150511640	CV1284745	single nucleotide variant	NM_000285.4(PEPD):c.624+176G>A	not provided [RCV001721614]	benign	19	33463811	33463811	Human		name
151798520	CV1376658	single nucleotide variant	NM_000285.4(PEPD):c.1345-12G>A	not provided [RCV001932087]	uncertain significance	19	33387493	33387493	Human		name
152063411	CV1535599	deletion	NM_000285.4(PEPD):c.1344+15del	not provided [RCV002168287]	likely benign	19	33387875	33387875	Human		name
152094997	CV1546065	single nucleotide variant	NM_000285.4(PEPD):c.1345-20T>A	not provided [RCV002132506]	benign	19	33387501	33387501	Human		name
152082161	CV1558712	single nucleotide variant	NM_000285.4(PEPD):c.1152+14T>C	not provided [RCV002149455]	likely benign	19	33391281	33391281	Human		name
152143895	CV1607723	single nucleotide variant	NM_000285.4(PEPD):c.1345-13C>T	not provided [RCV002101158]	likely benign	19	33387494	33387494	Human		name
152043430	CV1621870	single nucleotide variant	NM_000285.4(PEPD):c.1152+17C>T	not provided [RCV002108048]	benign	19	33391278	33391278	Human		name
152032819	CV1629520	single nucleotide variant	NM_000285.4(PEPD):c.1345-17C>G	not provided [RCV002106442]	likely benign	19	33387498	33387498	Human		name
152170668	CV1651242	single nucleotide variant	NM_000285.4(PEPD):c.1344+12C>T	not provided [RCV002143192]	likely benign	19	33387878	33387878	Human		name
156305555	CV1999814	duplication	NM_000285.4(PEPD):c.1345-16dup	not provided [RCV002671365]	likely benign	19	33387496	33387497	Human		name
156391568	CV2006238	single nucleotide variant	NM_000285.4(PEPD):c.1345-18T>C	not provided [RCV002654433]	likely benign	19	33387499	33387499	Human		name
156304744	CV2079719	single nucleotide variant	NM_000285.4(PEPD):c.1152+16G>A	not provided [RCV002857352]	likely benign	19	33391279	33391279	Human		name
156224356	CV2121734	single nucleotide variant	NM_000285.4(PEPD):c.1153-13C>G	not provided [RCV002958270]	likely benign	19	33388094	33388094	Human		name
405239780	CV2882599	single nucleotide variant	NM_000285.4(PEPD):c.1345-10C>G	not provided [RCV003557150]	likely benign	19	33387491	33387491	Human		name
405039773	CV2929946	single nucleotide variant	NM_000285.4(PEPD):c.1345-11G>A	not provided [RCV003579018]	likely benign	19	33387492	33387492	Human		name
402489911	CV2948925	single nucleotide variant	NM_000285.4(PEPD):c.1153-16C>T	not provided [RCV003660448]	likely benign	19	33388097	33388097	Human		name
405177394	CV2952082	single nucleotide variant	NM_000285.4(PEPD):c.1153-15C>G	not provided [RCV003675952]	likely benign	19	33388096	33388096	Human		name
402482537	CV3041676	single nucleotide variant	NM_000285.4(PEPD):c.1345-19G>A	not provided [RCV003712931]	likely benign	19	33387500	33387500	Human		name
405134931	CV3051990	single nucleotide variant	NM_000285.4(PEPD):c.1344+10C>T	not provided [RCV003725154]	likely benign	19	33387880	33387880	Human		name
405181264	CV3119938	single nucleotide variant	NM_000285.4(PEPD):c.1344+10C>A	not provided [RCV003820031]	likely benign	19	33387880	33387880	Human		name
402507826	CV3181800	single nucleotide variant	NM_000285.4(PEPD):c.1152+13A>G	not provided [RCV003878634]	likely benign	19	33391282	33391282	Human		name
11630687	CV348566	single nucleotide variant	NM_000285.4(PEPD):c.1345-11G>C	Prolidase deficiency [RCV000356743]\|not provided [RCV002057493]	likely benign\|uncertain significance	19	33387492	33387492	Human	1	name
597943063	CV3816379	single nucleotide variant	NM_000285.4(PEPD):c.1345-15G>A	not provided [RCV005159440]	likely benign	19	33387496	33387496	Human		name
28899399	CV880727	single nucleotide variant	NM_000285.4(PEPD):c.1344+13G>A	Prolidase deficiency [RCV001123938]\|not provided [RCV002070022]	likely benign\|uncertain significance	19	33387877	33387877	Human	1	name
150332409	CV1169814	single nucleotide variant	NM_000285.4(PEPD):c.1152+237C>A	not provided [RCV001536869]	benign	19	33391058	33391058	Human		name
152167214	CV1577389	microsatellite	NM_000285.4(PEPD):c.330-16TG[3]	not provided [RCV002204650]	likely benign	19	33501013	33501014	Human		name
401931287	CV2795635	single nucleotide variant	NM_000285.4(PEPD):c.968-4775T>G	not specified [RCV003391197]	benign	19	33396254	33396254	Human	5	name
401931007	CV2795642	single nucleotide variant	NM_000285.4(PEPD):c.968-4654C>T	not specified [RCV003391204]	benign	19	33396133	33396133	Human		name
405112165	CV2900417	microsatellite	NM_000285.4(PEPD):c.442-13TC[3]	not provided [RCV003558033]	likely benign	19	33490063	33490064	Human		name
152061341	CV1558362	microsatellite	NM_000285.4(PEPD):c.1345-23GT[2]	not provided [RCV002128377]	likely benign	19	33387499	33387500	Human		name
402524818	CV3015073	deletion	NM_000285.4(PEPD):c.968-2_980del	not provided [RCV003690523]	likely pathogenic	19	33391467	33391481	Human		name
405079462	CV3156353	microsatellite	NM_000285.4(PEPD):c.393+13CTC[2]	not provided [RCV003851411]	likely benign	19	33500917	33500919	Human		name
11662749	CV333091	duplication	NM_000285.4(PEPD):c.336_339dup	Prolidase deficiency [RCV000389219]	uncertain significance	19	33387004	33387005	Human	1	name
11634955	CV343197	duplication	NM_000285.4(PEPD):c.333_337dup	Prolidase deficiency [RCV000295185]	benign	19	33387006	33387007	Human	1	name
11635842	CV343206	duplication	NM_000285.4(PEPD):c.175_178dup	Prolidase deficiency [RCV000403368]\|not provided [RCV001653597]	benign	19	33387165	33387166	Human	1	name
152042555	CV1618071	single nucleotide variant	NM_000285.4(PEPD):c.6G>A (p.Ala2=)	not provided [RCV002206539]	likely benign	19	33521755	33521755	Human		name
156088370	CV2008865	single nucleotide variant	NM_000285.4(PEPD):c.9G>A (p.Ala3=)	not provided [RCV002706223]	likely benign	19	33521752	33521752	Human		name
405113684	CV2948724	deletion	NM_000285.4(PEPD):c.394-5_394-3del	not provided [RCV003666648]	likely benign	19	33493340	33493342	Human		name
152175813	CV1527235	single nucleotide variant	NM_000285.4(PEPD):c.24G>A (p.Ser8=)	not provided [RCV002163950]	likely benign	19	33512770	33512770	Human		name
155995971	CV2171594	deletion	NM_000285.4(PEPD):c.671+3_671+11del	not provided [RCV003034546]	uncertain significance	19	33462984	33462992	Human		name
402491203	CV2980986	duplication	NM_000285.4(PEPD):c.549-16_549-3dup	not provided [RCV003713790]	likely benign	19	33464064	33464065	Human		name
405002079	CV3120602	single nucleotide variant	NM_000285.4(PEPD):c.15C>T (p.Thr5=)	not provided [RCV003828204]	likely benign	19	33521746	33521746	Human		name
127232750	CV1084572	single nucleotide variant	NM_000285.4(PEPD):c.57G>A (p.Pro19=)	not provided [RCV001413601]	likely benign	19	33512737	33512737	Human		name
150520405	CV1289590	single nucleotide variant	NM_000285.4(PEPD):c.2T>G (p.Met1Arg)	Prolidase deficiency [RCV001730007]\|not provided [RCV005094905]	pathogenic	19	33521759	33521759	Human	1	name
151782718	CV1369875	single nucleotide variant	NM_000285.4(PEPD):c.2T>C (p.Met1Thr)	Prolidase deficiency [RCV005023444]\|not provided [RCV001930592]	pathogenic\|likely pathogenic\|uncertain significance	19	33521759	33521759	Human	1	name
151825680	CV1467146	single nucleotide variant	NM_000285.4(PEPD):c.1A>G (p.Met1Val)	not provided [RCV001901306]	pathogenic\|likely pathogenic\|uncertain significance	19	33521760	33521760	Human		name
152124454	CV1665679	single nucleotide variant	NM_000285.4(PEPD):c.72C>A (p.Ala24=)	not provided [RCV002198492]	likely benign	19	33512722	33512722	Human		name
156193597	CV1904372	single nucleotide variant	NM_000285.4(PEPD):c.72C>T (p.Ala24=)	not provided [RCV002574493]	likely benign	19	33512722	33512722	Human		name
156438371	CV1947020	microsatellite	NM_000285.4(PEPD):c.549-13_549-11del	not provided [RCV003108311]	likely benign	19	33464073	33464075	Human		name
156223395	CV2080974	single nucleotide variant	NM_000285.4(PEPD):c.42A>G (p.Glu14=)	not provided [RCV002853295]	likely benign	19	33512752	33512752	Human		name
156103027	CV2099360	single nucleotide variant	NM_000285.4(PEPD):c.81G>A (p.Arg27=)	not provided [RCV002913476]	likely benign	19	33512713	33512713	Human		name
156134187	CV2187941	single nucleotide variant	NM_000285.4(PEPD):c.99G>C (p.Arg33=)	not provided [RCV003055947]	likely benign	19	33512695	33512695	Human		name
405128457	CV2893316	single nucleotide variant	NM_000285.4(PEPD):c.63G>A (p.Ala21=)	not provided [RCV003559805]	likely benign	19	33512731	33512731	Human		name
402484425	CV2944884	deletion	NM_000285.4(PEPD):c.330-12_330-11del	not provided [RCV003659939]	likely benign	19	33501012	33501013	Human		name
405159120	CV2956679	microsatellite	NM_000285.4(PEPD):c.442-15_442-14del	not provided [RCV003674488]	likely benign	19	33490071	33490072	Human		name
402478981	CV2980204	single nucleotide variant	NM_000285.4(PEPD):c.31C>T (p.Leu11=)	not provided [RCV003686282]	likely benign	19	33512763	33512763	Human		name
405218327	CV3034865	single nucleotide variant	NM_000285.4(PEPD):c.97C>A (p.Arg33=)	not provided [RCV003709613]	likely benign	19	33512697	33512697	Human		name
405251213	CV3049812	duplication	NM_000285.4(PEPD):c.1344+4_1344+7dup	not provided [RCV003721839]	likely benign	19	33387882	33387883	Human		name
405242826	CV3077106	single nucleotide variant	NM_000285.4(PEPD):c.90G>T (p.Leu30=)	not provided [RCV003737617]	likely benign	19	33512704	33512704	Human		name
405225229	CV3158814	single nucleotide variant	NM_000285.4(PEPD):c.66C>T (p.Leu22=)	not provided [RCV003864116]	likely benign	19	33512728	33512728	Human		name
407463972	CV3470641	single nucleotide variant	NM_000285.4(PEPD):c.8C>T (p.Ala3Val)	Inborn genetic diseases [RCV004659834]	uncertain significance	19	33521753	33521753	Human	1	name
126912386	CV1051213	single nucleotide variant	NM_000285.4(PEPD):c.16G>C (p.Gly6Arg)	not provided [RCV001369711]	uncertain significance	19	33521745	33521745	Human		name
150520717	CV1289870	single nucleotide variant	NM_000285.4(PEPD):c.183C>T (p.Thr61=)	not provided [RCV001730242]	likely benign	19	33512611	33512611	Human		name
152132768	CV1630282	single nucleotide variant	NM_000285.4(PEPD):c.144G>A (p.Leu48=)	not provided [RCV002177021]	likely benign	19	33512650	33512650	Human		name
152061873	CV1638365	single nucleotide variant	NM_000285.4(PEPD):c.285G>C (p.Leu95=)	not provided [RCV002073771]	likely benign	19	33511072	33511072	Human		name
156411926	CV1894077	single nucleotide variant	NM_000285.4(PEPD):c.150C>T (p.Gly50=)	not provided [RCV003072686]	likely benign	19	33512644	33512644	Human		name
156363485	CV1895507	single nucleotide variant	NM_000285.4(PEPD):c.258C>T (p.Ile86=)	not provided [RCV003091876]	likely benign	19	33511099	33511099	Human		name
156349722	CV1985490	single nucleotide variant	NM_000285.4(PEPD):c.225C>T (p.Phe75=)	not provided [RCV002631893]	likely benign	19	33511132	33511132	Human		name
156260091	CV2049480	single nucleotide variant	NM_000285.4(PEPD):c.156G>A (p.Glu52=)	not provided [RCV002806298]	likely benign	19	33512638	33512638	Human		name
156022277	CV2111126	single nucleotide variant	NM_000285.4(PEPD):c.222G>A (p.Ala74=)	not provided [RCV002909670]	likely benign	19	33511135	33511135	Human		name
405203884	CV2858459	single nucleotide variant	NM_000285.4(PEPD):c.282C>T (p.Thr94=)	not provided [RCV003551695]	likely benign	19	33511075	33511075	Human		name
405125082	CV2886285	single nucleotide variant	NM_000285.4(PEPD):c.285G>T (p.Leu95=)	not provided [RCV003559490]	likely benign	19	33511072	33511072	Human		name
405240140	CV2892734	single nucleotide variant	NM_000285.4(PEPD):c.228T>G (p.Gly76=)	not provided [RCV003557231]	likely benign	19	33511129	33511129	Human		name
405035025	CV2923445	single nucleotide variant	NM_000285.4(PEPD):c.273G>C (p.Gly91=)	not provided [RCV003578630]	likely benign	19	33511084	33511084	Human		name
405028523	CV2925843	single nucleotide variant	NM_000285.4(PEPD):c.186G>A (p.Gly62=)	not provided [RCV003578184]	likely benign	19	33512608	33512608	Human		name
405198150	CV2972836	single nucleotide variant	NM_000285.4(PEPD):c.168C>G (p.Arg56=)	not provided [RCV003677824]	likely benign	19	33512626	33512626	Human		name
404981224	CV3006377	single nucleotide variant	NM_000285.4(PEPD):c.120G>A (p.Val40=)	not provided [RCV003691265]	likely benign	19	33512674	33512674	Human		name
402491676	CV3012005	single nucleotide variant	NM_000285.4(PEPD):c.138G>A (p.Val46=)	not provided [RCV003687594]	likely benign	19	33512656	33512656	Human		name
405237089	CV3080746	single nucleotide variant	NM_000285.4(PEPD):c.135C>T (p.Ile45=)	not provided [RCV003736091]	likely benign	19	33512659	33512659	Human		name
405136265	CV3130612	single nucleotide variant	NM_000285.4(PEPD):c.126C>T (p.Ala42=)	not provided [RCV003838845]	likely benign	19	33512668	33512668	Human		name
402494726	CV3183017	single nucleotide variant	NM_000285.4(PEPD):c.177C>T (p.Thr59=)	not provided [RCV003877325]	likely benign	19	33512617	33512617	Human		name
11626066	CV333124	single nucleotide variant	NM_000285.4(PEPD):c.279G>A (p.Ser93=)	Prolidase deficiency [RCV000406193]\|not provided [RCV000916064]	likely benign\|uncertain significance	19	33511078	33511078	Human	1	name
597860724	CV3770134	single nucleotide variant	NM_000285.4(PEPD):c.171C>T (p.Tyr57=)	not provided [RCV005105986]	likely benign	19	33512623	33512623	Human		name
597903229	CV3784415	single nucleotide variant	NM_000285.4(PEPD):c.153G>T (p.Gly51=)	not provided [RCV005127467]	likely benign	19	33512641	33512641	Human		name
597911826	CV3807020	single nucleotide variant	NM_000285.4(PEPD):c.168C>A (p.Arg56=)	not provided [RCV005154391]	likely benign	19	33512626	33512626	Human		name
597857883	CV3822330	single nucleotide variant	NM_000285.4(PEPD):c.144G>T (p.Leu48=)	not provided [RCV005174628]	likely benign	19	33512650	33512650	Human		name
597974608	CV3831741	single nucleotide variant	NM_000285.4(PEPD):c.213T>C (p.Phe71=)	not provided [RCV005168680]	likely benign	19	33511144	33511144	Human		name
15164664	CV716369	single nucleotide variant	NM_000285.4(PEPD):c.100C>T (p.Leu34=)	Prolidase deficiency [RCV001127106]\|not provided [RCV000970775]	likely benign\|uncertain significance	19	33512694	33512694	Human	1	name
15143653	CV786133	single nucleotide variant	NM_000285.4(PEPD):c.126C>G (p.Ala42=)	not provided [RCV000983362]	likely benign	19	33512668	33512668	Human		name
126727321	CV1034227	single nucleotide variant	NM_000285.4(PEPD):c.62C>T (p.Ala21Val)	not provided [RCV001348675]	uncertain significance	19	33512732	33512732	Human		name
151758953	CV1340607	single nucleotide variant	NM_000285.4(PEPD):c.98G>A (p.Arg33Gln)	not provided [RCV001913755]	uncertain significance	19	33512696	33512696	Human		name
151764168	CV1384540	single nucleotide variant	NM_000285.4(PEPD):c.97C>T (p.Arg33Trp)	not provided [RCV001987610]	uncertain significance	19	33512697	33512697	Human		name
151868881	CV1413423	single nucleotide variant	NM_000285.4(PEPD):c.56C>T (p.Pro19Leu)	not provided [RCV002018684]	uncertain significance	19	33512738	33512738	Human		name
151718030	CV1419566	single nucleotide variant	NM_000285.4(PEPD):c.858C>T (p.Ser286=)	Prolidase deficiency [RCV002492140]\|not provided [RCV001965522]	likely benign	19	33401830	33401830	Human	1	name
151872307	CV1470733	single nucleotide variant	NM_000285.4(PEPD):c.35G>A (p.Gly12Glu)	not provided [RCV001925381]	uncertain significance	19	33512759	33512759	Human		name
151732613	CV1497639	single nucleotide variant	NM_000285.4(PEPD):c.609C>T (p.Ser203=)	not provided [RCV001946211]	likely benign\|uncertain significance	19	33464002	33464002	Human		name
152069306	CV1526457	single nucleotide variant	NM_000285.4(PEPD):c.702C>T (p.Gly234=)	not provided [RCV002074881]	likely benign	19	33413613	33413613	Human		name
152148568	CV1528894	single nucleotide variant	NM_000285.4(PEPD):c.768C>T (p.Tyr256=)	not provided [RCV002101865]	likely benign	19	33411722	33411722	Human		name
152092070	CV1528938	single nucleotide variant	NM_000285.4(PEPD):c.384C>T (p.Tyr128=)	not provided [RCV002094323]	likely benign	19	33500947	33500947	Human		name
152136452	CV1560651	single nucleotide variant	NM_000285.4(PEPD):c.861C>T (p.Asp287=)	not provided [RCV002137604]	likely benign	19	33401827	33401827	Human		name
152109792	CV1563933	single nucleotide variant	NM_000285.4(PEPD):c.798G>A (p.Thr266=)	not provided [RCV002174188]	likely benign	19	33411692	33411692	Human		name
152077451	CV1564683	single nucleotide variant	NM_000285.4(PEPD):c.534A>G (p.Pro178=)	not provided [RCV002192602]	likely benign	19	33478060	33478060	Human		name
152030274	CV1570883	single nucleotide variant	NM_000285.4(PEPD):c.432C>T (p.Leu144=)	not provided [RCV002105876]	likely benign	19	33493299	33493299	Human		name
152130087	CV1584421	single nucleotide variant	NM_000285.4(PEPD):c.756C>T (p.Ala252=)	not provided [RCV002082746]	likely benign	19	33411734	33411734	Human		name
152081128	CV1589362	single nucleotide variant	NM_000285.4(PEPD):c.507C>T (p.Phe169=)	not provided [RCV002112766]	likely benign	19	33478087	33478087	Human		name
152106932	CV1591840	single nucleotide variant	NM_000285.4(PEPD):c.375C>T (p.Asp125=)	not provided [RCV002214941]	likely benign	19	33500956	33500956	Human		name
152027052	CV1593816	single nucleotide variant	NM_000285.4(PEPD):c.945C>T (p.Ala315=)	not provided [RCV002104763]	likely benign	19	33401743	33401743	Human		name
152112983	CV1595248	single nucleotide variant	NM_000285.4(PEPD):c.873C>T (p.Ser291=)	not provided [RCV002116798]	likely benign	19	33401815	33401815	Human		name
152163363	CV1606478	single nucleotide variant	NM_000285.4(PEPD):c.519T>C (p.Asn173=)	not provided [RCV002181322]	likely benign	19	33478075	33478075	Human		name
152104353	CV1614490	single nucleotide variant	NM_000285.4(PEPD):c.912C>T (p.Ala304=)	not provided [RCV002079396]	likely benign	19	33401776	33401776	Human		name
152104220	CV1625766	single nucleotide variant	NM_000285.4(PEPD):c.696C>G (p.Ser232=)	not provided [RCV002152179]	likely benign	19	33413619	33413619	Human		name
152059800	CV1627838	single nucleotide variant	NM_000285.4(PEPD):c.777C>T (p.Ala259=)	not provided [RCV002190388]	likely benign	19	33411713	33411713	Human		name
152072372	CV1643740	single nucleotide variant	NM_000285.4(PEPD):c.879C>T (p.Pro293=)	not provided [RCV002111630]	likely benign	19	33401809	33401809	Human		name
152041136	CV1649321	single nucleotide variant	NM_000285.4(PEPD):c.885C>T (p.Asn295=)	not provided [RCV002206360]	likely benign	19	33401803	33401803	Human		name
152080109	CV1649911	single nucleotide variant	NM_000285.4(PEPD):c.366C>T (p.Ala122=)	not provided [RCV002092733]	likely benign	19	33500965	33500965	Human		name
152154187	CV1657907	single nucleotide variant	NM_000285.4(PEPD):c.774C>T (p.His258=)	PEPD-related disorder [RCV003941311]\|not provided [RCV002179903]	benign\|likely benign	19	33411716	33411716	Human	1	name , trait , alternate_id
156255185	CV1879017	single nucleotide variant	NM_000285.4(PEPD):c.753A>T (p.Ser251=)	not provided [RCV003060166]	likely benign	19	33411737	33411737	Human		name
156048228	CV1884227	single nucleotide variant	NM_000285.4(PEPD):c.852C>T (p.Phe284=)	not provided [RCV003078774]	likely benign	19	33401836	33401836	Human		name
156127664	CV1889169	single nucleotide variant	NM_000285.4(PEPD):c.735C>T (p.Cys245=)	not provided [RCV003081704]	likely benign	19	33413580	33413580	Human		name
156296821	CV1904834	single nucleotide variant	NM_000285.4(PEPD):c.411G>A (p.Thr137=)	not provided [RCV002598984]	likely benign	19	33493320	33493320	Human		name
156444293	CV1937820	single nucleotide variant	NM_000285.4(PEPD):c.615C>T (p.Ala205=)	not provided [RCV003115216]	likely benign	19	33463996	33463996	Human		name
156441923	CV1941580	single nucleotide variant	NM_000285.4(PEPD):c.789C>T (p.Asn263=)	not provided [RCV003112257]	likely benign	19	33411701	33411701	Human		name
156134357	CV2047975	single nucleotide variant	NM_000285.4(PEPD):c.80G>A (p.Arg27Gln)	not provided [RCV002800730]	uncertain significance	19	33512714	33512714	Human		name
156226112	CV2048351	single nucleotide variant	NM_000285.4(PEPD):c.86G>A (p.Arg29His)	not provided [RCV002790820]	uncertain significance	19	33512708	33512708	Human		name
156008723	CV2054475	single nucleotide variant	NM_000285.4(PEPD):c.31C>G (p.Leu11Val)	not provided [RCV002820007]	uncertain significance	19	33512763	33512763	Human		name
156130980	CV2116846	single nucleotide variant	NM_000285.4(PEPD):c.486C>G (p.Ser162=)	not provided [RCV002928197]	benign	19	33490013	33490013	Human		name
155933974	CV2129364	single nucleotide variant	NM_000285.4(PEPD):c.372C>T (p.Asp124=)	not provided [RCV002970801]	likely benign	19	33500959	33500959	Human		name
155952810	CV2161399	single nucleotide variant	NM_000285.4(PEPD):c.864C>T (p.Ile288=)	not provided [RCV003032529]	likely benign	19	33401824	33401824	Human		name
156070175	CV2232358	single nucleotide variant	NM_000285.4(PEPD):c.32T>C (p.Leu11Pro)	Inborn genetic diseases [RCV002737316]	uncertain significance	19	33512762	33512762	Human	1	name
402484437	CV2855138	single nucleotide variant	NM_000285.4(PEPD):c.684C>T (p.His228=)	not provided [RCV003544337]	likely benign	19	33413631	33413631	Human		name
402524666	CV2868414	single nucleotide variant	NM_000285.4(PEPD):c.777C>A (p.Ala259=)	not provided [RCV003548021]	likely benign	19	33411713	33411713	Human		name
405121684	CV2888192	single nucleotide variant	NM_000285.4(PEPD):c.456G>T (p.Thr152=)	not provided [RCV003559159]	likely benign	19	33490043	33490043	Human		name
405028216	CV2890047	single nucleotide variant	NM_000285.4(PEPD):c.870C>T (p.Cys290=)	not provided [RCV003578082]	likely benign	19	33401818	33401818	Human		name
405156939	CV2897815	single nucleotide variant	NM_000285.4(PEPD):c.702C>G (p.Gly234=)	not provided [RCV003562123]	likely benign	19	33413613	33413613	Human		name
405157349	CV2897953	single nucleotide variant	NM_000285.4(PEPD):c.894C>T (p.Phe298=)	not provided [RCV003562151]	likely benign	19	33401794	33401794	Human		name
405230378	CV2899543	single nucleotide variant	NM_000285.4(PEPD):c.729C>T (p.Cys243=)	not provided [RCV003555409]	likely benign	19	33413586	33413586	Human		name
405134648	CV2902006	single nucleotide variant	NM_000285.4(PEPD):c.753A>G (p.Ser251=)	not provided [RCV003560281]	likely benign	19	33411737	33411737	Human		name
402522165	CV2902638	deletion	NM_000285.4(PEPD):c.1152+13_1152+16del	not provided [RCV003575789]	likely benign	19	33391279	33391282	Human		name
405241046	CV2905109	single nucleotide variant	NM_000285.4(PEPD):c.840G>A (p.Glu280=)	not provided [RCV003557414]	likely benign	19	33401848	33401848	Human		name
402519424	CV2906331	single nucleotide variant	NM_000285.4(PEPD):c.522C>G (p.Thr174=)	not provided [RCV003575740]	likely benign	19	33478072	33478072	Human		name
405206557	CV2913406	single nucleotide variant	NM_000285.4(PEPD):c.366C>A (p.Ala122=)	not provided [RCV003566528]	likely benign	19	33500965	33500965	Human		name
405207380	CV2913679	deletion	NM_000285.4(PEPD):c.297del (p.Arg99fs)	not provided [RCV003566631]	pathogenic	19	33511060	33511060	Human		name
402482610	CV2921812	single nucleotide variant	NM_000285.4(PEPD):c.918T>C (p.Tyr306=)	not provided [RCV003572232]	likely benign	19	33401770	33401770	Human		name
405006878	CV2929516	single nucleotide variant	NM_000285.4(PEPD):c.945C>A (p.Ala315=)	not provided [RCV003576333]	likely benign	19	33401743	33401743	Human		name
402482205	CV2940875	single nucleotide variant	NM_000285.4(PEPD):c.465C>T (p.Gly155=)	not provided [RCV003659749]	likely benign	19	33490034	33490034	Human		name
405071200	CV2941024	single nucleotide variant	NM_000285.4(PEPD):c.693C>T (p.Tyr231=)	not provided [RCV003663992]	likely benign	19	33413622	33413622	Human		name
402513992	CV2943057	single nucleotide variant	NM_000285.4(PEPD):c.531C>T (p.His177=)	not provided [RCV003662795]	likely benign	19	33478063	33478063	Human		name
402497647	CV2946643	single nucleotide variant	NM_000285.4(PEPD):c.333C>A (p.Ile111=)	not provided [RCV003661286]	likely benign	19	33500998	33500998	Human		name
405160275	CV2950249	single nucleotide variant	NM_000285.4(PEPD):c.771A>T (p.Gly257=)	not provided [RCV003674631]	likely benign	19	33411719	33411719	Human		name
405152369	CV2957097	single nucleotide variant	NM_000285.4(PEPD):c.540C>A (p.Ile180=)	not provided [RCV003670090]	likely benign	19	33478054	33478054	Human		name
405197051	CV2976180	single nucleotide variant	NM_000285.4(PEPD):c.498C>T (p.Ile166=)	not provided [RCV003677777]	likely benign	19	33490001	33490001	Human		name
402498095	CV2988704	single nucleotide variant	NM_000285.4(PEPD):c.954T>C (p.Gly318=)	not provided [RCV003714307]	likely benign	19	33401734	33401734	Human		name
402517326	CV2992323	single nucleotide variant	NM_000285.4(PEPD):c.928C>T (p.Leu310=)	not provided [RCV003690032]	likely benign	19	33401760	33401760	Human		name
402482735	CV3001323	single nucleotide variant	NM_000285.4(PEPD):c.591T>C (p.Tyr197=)	not provided [RCV003686744]	likely benign	19	33464020	33464020	Human		name
405022123	CV3002693	single nucleotide variant	NM_000285.4(PEPD):c.867C>T (p.Thr289=)	not provided [RCV003694920]	likely benign	19	33401821	33401821	Human		name
405248535	CV3003698	single nucleotide variant	NM_000285.4(PEPD):c.981T>C (p.Pro327=)	not provided [RCV003721140]	likely benign	19	33391466	33391466	Human		name
402495321	CV3005693	single nucleotide variant	NM_000285.4(PEPD):c.486C>T (p.Ser162=)	not provided [RCV003687955]	likely benign	19	33490013	33490013	Human		name
405116024	CV3020059	duplication	NM_000285.4(PEPD):c.217dup (p.Trp73fs)	not provided [RCV003700248]	pathogenic	19	33511139	33511140	Human		name
405158106	CV3024767	single nucleotide variant	NM_000285.4(PEPD):c.786C>T (p.Pro262=)	not provided [RCV003703771]	likely benign	19	33411704	33411704	Human		name
402480074	CV3033119	single nucleotide variant	NM_000285.4(PEPD):c.828C>T (p.Asp276=)	not provided [RCV003712648]	likely benign	19	33401860	33401860	Human		name
405242537	CV3042872	single nucleotide variant	NM_000285.4(PEPD):c.537G>A (p.Glu179=)	not provided [RCV003719517]	likely benign	19	33478057	33478057	Human		name
405130946	CV3051060	single nucleotide variant	NM_000285.4(PEPD):c.471C>T (p.Val157=)	not provided [RCV003724821]	likely benign	19	33490028	33490028	Human		name
405245624	CV3051494	single nucleotide variant	NM_000285.4(PEPD):c.873C>G (p.Ser291=)	not provided [RCV003720292]	likely benign	19	33401815	33401815	Human		name
405230418	CV3070195	single nucleotide variant	NM_000285.4(PEPD):c.540C>T (p.Ile180=)	not provided [RCV003734799]	likely benign	19	33478054	33478054	Human		name
405048138	CV3079831	single nucleotide variant	NM_000285.4(PEPD):c.636T>C (p.Ala212=)	not provided [RCV003740401]	likely benign	19	33463030	33463030	Human		name
405160311	CV3125028	single nucleotide variant	NM_000285.4(PEPD):c.564G>A (p.Thr188=)	not provided [RCV003818299]	likely benign	19	33464047	33464047	Human		name
404978258	CV3127309	single nucleotide variant	NM_000285.4(PEPD):c.687C>T (p.Tyr229=)	not provided [RCV003825533]	likely benign	19	33413628	33413628	Human		name
405213329	CV3127621	single nucleotide variant	NM_000285.4(PEPD):c.348C>T (p.His116=)	not provided [RCV003823669]	likely benign	19	33500983	33500983	Human		name
405197296	CV3138808	single nucleotide variant	NM_000285.4(PEPD):c.351C>T (p.Phe117=)	not provided [RCV003821624]	likely benign	19	33500980	33500980	Human		name
405042850	CV3141175	single nucleotide variant	NM_000285.4(PEPD):c.483C>T (p.Ala161=)	not provided [RCV003831468]	likely benign	19	33490016	33490016	Human		name
405041688	CV3154042	single nucleotide variant	NM_000285.4(PEPD):c.843T>C (p.Tyr281=)	not provided [RCV003848910]	likely benign	19	33401845	33401845	Human		name
405224300	CV3158498	microsatellite	NM_000285.4(PEPD):c.1153-13_1153-12del	not provided [RCV003863994]	likely benign	19	33388093	33388094	Human		name
405085783	CV3167323	single nucleotide variant	NM_000285.4(PEPD):c.994C>T (p.Leu332=)	not provided [RCV003851904]	likely benign	19	33391453	33391453	Human		name
402481464	CV3170805	single nucleotide variant	NM_000285.4(PEPD):c.927G>A (p.Val309=)	not provided [RCV003876008]	likely benign	19	33401761	33401761	Human		name
405229895	CV3176684	single nucleotide variant	NM_000285.4(PEPD):c.525T>C (p.Ile175=)	not provided [RCV003865058]	likely benign	19	33478069	33478069	Human		name
402513505	CV3178732	single nucleotide variant	NM_000285.4(PEPD):c.495C>T (p.Gly165=)	not provided [RCV003879165]	likely benign	19	33490004	33490004	Human		name
402490046	CV3182259	single nucleotide variant	NM_000285.4(PEPD):c.825C>T (p.Phe275=)	not provided [RCV003876745]	likely benign	19	33401863	33401863	Human		name
11618253	CV333117	single nucleotide variant	NM_000285.4(PEPD):c.834C>T (p.Gly278=)	Prolidase deficiency [RCV000311932]\|not provided [RCV000957947]	likely benign\|uncertain significance	19	33401854	33401854	Human	1	name
11623411	CV333123	single nucleotide variant	NM_000285.4(PEPD):c.492C>T (p.Asp164=)	PEPD-related disorder [RCV003969936]\|Prolidase deficiency [RCV000372612]\|not provided [RCV002057498]	likely benign\|uncertain significance	19	33490007	33490007	Human	1	name , trait , alternate_id
405790610	CV3368379	single nucleotide variant	NM_000285.4(PEPD):c.504G>A (p.Lys168=)	Inborn genetic diseases [RCV004505799]	likely benign	19	33478090	33478090	Human	1	name
11631367	CV348575	single nucleotide variant	NM_000285.4(PEPD):c.660T>C (p.Tyr220=)	Prolidase deficiency [RCV000376172]\|not provided [RCV001522110]\|not specified [RCV000455003]	benign\|likely benign	19	33463006	33463006	Human	1	name
11629999	CV348577	single nucleotide variant	NM_000285.4(PEPD):c.456G>A (p.Thr152=)	Prolidase deficiency [RCV000337916]\|not provided [RCV000970561]	benign\|likely benign\|uncertain significance	19	33490043	33490043	Human	1	name
11628726	CV349659	single nucleotide variant	NM_000285.4(PEPD):c.744T>C (p.Gly248=)	Prolidase deficiency [RCV000308288]\|not provided [RCV001518432]	benign\|likely benign	19	33411746	33411746	Human	1	name
11627200	CV349664	single nucleotide variant	NM_000285.4(PEPD):c.462C>T (p.Ser154=)	Prolidase deficiency [RCV000278216]\|not provided [RCV002523059]	likely benign\|uncertain significance	19	33490037	33490037	Human	1	name
11627997	CV349665	single nucleotide variant	NM_000285.4(PEPD):c.447C>T (p.Gly149=)	Prolidase deficiency [RCV000293585]\|not provided [RCV000879105]	likely benign\|uncertain significance	19	33490052	33490052	Human	1	name
597713497	CV3575591	single nucleotide variant	NM_000285.4(PEPD):c.85C>T (p.Arg29Cys)	Inborn genetic diseases [RCV004959449]	uncertain significance	19	33512709	33512709	Human	1	name
597713522	CV3575594	single nucleotide variant	NM_000285.4(PEPD):c.44C>T (p.Thr15Ile)	Inborn genetic diseases [RCV004959452]	uncertain significance	19	33512750	33512750	Human	1	name
597883254	CV3741265	single nucleotide variant	NM_000285.4(PEPD):c.79C>T (p.Arg27Trp)	not provided [RCV005070172]	likely pathogenic	19	33512715	33512715	Human		name
597943837	CV3812306	single nucleotide variant	NM_000285.4(PEPD):c.705C>T (p.Gly235=)	not provided [RCV005159516]	likely benign	19	33413610	33413610	Human		name
597887197	CV3859266	single nucleotide variant	NM_000285.4(PEPD):c.990C>T (p.His330=)	not provided [RCV005199919]	likely benign	19	33391457	33391457	Human		name
13836471	CV587746	single nucleotide variant	NM_000285.4(PEPD):c.969T>C (p.Gly323=)	not provided [RCV000732598]	conflicting interpretations of pathogenicity\|uncertain significance	19	33391478	33391478	Human		name
15154972	CV728101	single nucleotide variant	NM_000285.4(PEPD):c.34G>A (p.Gly12Arg)	not provided [RCV000880323]	likely benign	19	33512760	33512760	Human		name
15154120	CV741772	single nucleotide variant	NM_000285.4(PEPD):c.984C>T (p.Asp328=)	not provided [RCV000901894]	likely benign	19	33391463	33391463	Human		name
15186599	CV741773	single nucleotide variant	NM_000285.4(PEPD):c.810G>A (p.Gly270=)	PEPD-related disorder [RCV003902845]\|not provided [RCV000908851]	benign\|likely benign	19	33411680	33411680	Human	1	name , trait , alternate_id
15172474	CV772580	single nucleotide variant	NM_000285.4(PEPD):c.594C>T (p.Thr198=)	PEPD-related disorder [RCV004754636]\|not provided [RCV000928122]	likely benign	19	33464017	33464017	Human	1	name , trait , alternate_id
28899686	CV880284	single nucleotide variant	NM_000285.4(PEPD):c.678C>T (p.Phe226=)	Prolidase deficiency [RCV001124047]\|not provided [RCV002556685]	likely benign\|uncertain significance	19	33413637	33413637	Human	1	name
28905786	CV880285	single nucleotide variant	NM_000285.4(PEPD):c.402C>T (p.Ser134=)	Prolidase deficiency [RCV001126707]\|not provided [RCV002070072]	likely benign\|uncertain significance	19	33493329	33493329	Human	1	name
28906528	CV880286	single nucleotide variant	NM_000285.4(PEPD):c.393G>A (p.Glu131=)	Prolidase deficiency [RCV001127102]\|not provided [RCV002556775]	uncertain significance	19	33500938	33500938	Human	1	name
126764267	CV1034226	single nucleotide variant	NM_000285.4(PEPD):c.152G>A (p.Gly51Glu)	Inborn genetic diseases [RCV004035969]\|not provided [RCV001341595]	uncertain significance	19	33512642	33512642	Human	1	name
127284516	CV1106356	single nucleotide variant	NM_000285.4(PEPD):c.1311C>A (p.Arg437=)	not provided [RCV001449533]	likely benign	19	33387923	33387923	Human		name
151235336	CV1318608	deletion	NM_000285.4(PEPD):c.825del (p.Phe275fs)	Megaconial type congenital muscular dystrophy [RCV004785314]\|Prolidase deficiency [RCV001794936]\|not provided [RCV002034648]	pathogenic\|likely pathogenic	19	33401863	33401863	Human	2	name
151817771	CV1337491	single nucleotide variant	NM_000285.4(PEPD):c.187G>T (p.Val63Phe)	not provided [RCV001919259]	uncertain significance	19	33512607	33512607	Human		name
151835613	CV1347281	single nucleotide variant	NM_000285.4(PEPD):c.197G>T (p.Arg66Leu)	not provided [RCV002031254]	uncertain significance	19	33512597	33512597	Human		name
151851782	CV1360734	single nucleotide variant	NM_000285.4(PEPD):c.197G>A (p.Arg66His)	Inborn genetic diseases [RCV002545877]\|not provided [RCV001904194]	uncertain significance	19	33512597	33512597	Human	1	name
151746902	CV1364665	single nucleotide variant	NM_000285.4(PEPD):c.166C>T (p.Arg56Cys)	not provided [RCV001985835]	uncertain significance	19	33512628	33512628	Human		name
151821471	CV1387304	single nucleotide variant	NM_000285.4(PEPD):c.178G>A (p.Asp60Asn)	not provided [RCV001992817]	uncertain significance	19	33512616	33512616	Human		name
151746226	CV1401955	single nucleotide variant	NM_000285.4(PEPD):c.187G>A (p.Val63Ile)	not provided [RCV002042756]	uncertain significance	19	33512607	33512607	Human		name
151775180	CV1413556	single nucleotide variant	NM_000285.4(PEPD):c.196C>T (p.Arg66Cys)	not provided [RCV001971563]	uncertain significance	19	33512598	33512598	Human		name
151843771	CV1414661	single nucleotide variant	NM_000285.4(PEPD):c.248A>G (p.Tyr83Cys)	not provided [RCV001903168]	uncertain significance	19	33511109	33511109	Human		name
151842013	CV1423876	single nucleotide variant	NM_000285.4(PEPD):c.125C>T (p.Ala42Val)	not provided [RCV001977810]	uncertain significance	19	33512669	33512669	Human		name
151772541	CV1444379	single nucleotide variant	NM_000285.4(PEPD):c.143T>C (p.Leu48Pro)	not provided [RCV001929667]	uncertain significance	19	33512651	33512651	Human		name
151762093	CV1455991	single nucleotide variant	NM_000285.4(PEPD):c.297G>T (p.Arg99Ser)	not provided [RCV002044401]	uncertain significance	19	33511060	33511060	Human		name
151735649	CV1465848	single nucleotide variant	NM_000285.4(PEPD):c.286T>G (p.Phe96Val)	not provided [RCV002041680]	uncertain significance	19	33511071	33511071	Human		name
151796817	CV1467523	single nucleotide variant	NM_000285.4(PEPD):c.200A>G (p.Gln67Arg)	not provided [RCV001952553]	uncertain significance	19	33512594	33512594	Human		name
151873696	CV1488075	single nucleotide variant	NM_000285.4(PEPD):c.226G>A (p.Gly76Ser)	not provided [RCV001981627]	uncertain significance	19	33511131	33511131	Human		name
151891680	CV1502868	single nucleotide variant	NM_000285.4(PEPD):c.176C>T (p.Thr59Ile)	not provided [RCV001943458]	uncertain significance	19	33512618	33512618	Human		name
151811796	CV1510247	single nucleotide variant	NM_000285.4(PEPD):c.111C>A (p.Asn37Lys)	Inborn genetic diseases [RCV002555797]\|not provided [RCV001918682]	uncertain significance	19	33512683	33512683	Human	1	name
152094903	CV1533883	single nucleotide variant	NM_000285.4(PEPD):c.1176C>T (p.Pro392=)	not provided [RCV002151072]	likely benign	19	33388058	33388058	Human		name
152083544	CV1565305	single nucleotide variant	NM_000285.4(PEPD):c.1455C>T (p.Ala485=)	not provided [RCV002093169]	likely benign	19	33387371	33387371	Human		name
152070953	CV1570189	single nucleotide variant	NM_000285.4(PEPD):c.1239G>A (p.Pro413=)	not provided [RCV002191773]	likely benign	19	33387995	33387995	Human		name
152055241	CV1582072	single nucleotide variant	NM_000285.4(PEPD):c.1173G>A (p.Glu391=)	not provided [RCV002089627]	likely benign	19	33388061	33388061	Human		name
152055718	CV1588035	single nucleotide variant	NM_000285.4(PEPD):c.1293C>T (p.Arg431=)	not provided [RCV002189935]	likely benign	19	33387941	33387941	Human		name
152077776	CV1601950	single nucleotide variant	NM_000285.4(PEPD):c.1089T>C (p.Phe363=)	not provided [RCV002148917]	likely benign	19	33391358	33391358	Human		name
152171189	CV1612910	single nucleotide variant	NM_000285.4(PEPD):c.1170C>T (p.Asp390=)	not provided [RCV002183415]	likely benign	19	33388064	33388064	Human		name
152156628	CV1627001	single nucleotide variant	NM_000285.4(PEPD):c.1392G>T (p.Leu464=)	not provided [RCV002103051]	likely benign	19	33387434	33387434	Human		name
152147436	CV1656141	single nucleotide variant	NM_000285.4(PEPD):c.1044C>T (p.Ser348=)	not provided [RCV002220268]	likely benign	19	33391403	33391403	Human		name
156391990	CV1869514	single nucleotide variant	NM_000285.4(PEPD):c.1254C>T (p.Ile418=)	not provided [RCV003051429]	likely benign	19	33387980	33387980	Human		name
156005538	CV1873789	single nucleotide variant	NM_000285.4(PEPD):c.1341C>T (p.Gly447=)	not provided [RCV003076802]	likely benign	19	33387893	33387893	Human		name
156064250	CV1877982	single nucleotide variant	NM_000285.4(PEPD):c.127G>A (p.Gly43Ser)	not provided [RCV003037364]	uncertain significance	19	33512667	33512667	Human		name
156322192	CV1885776	single nucleotide variant	NM_000285.4(PEPD):c.1374T>G (p.Thr458=)	not provided [RCV003089239]	likely benign	19	33387452	33387452	Human		name
156251329	CV1887164	single nucleotide variant	NM_000285.4(PEPD):c.1083C>T (p.Ala361=)	not provided [RCV003086113]	likely benign	19	33391364	33391364	Human		name
156329059	CV1887567	single nucleotide variant	NM_000285.4(PEPD):c.1431A>G (p.Ala477=)	not provided [RCV003089677]	likely benign	19	33387395	33387395	Human		name
156040980	CV1891039	single nucleotide variant	NM_000285.4(PEPD):c.1305T>G (p.Leu435=)	not provided [RCV003078516]	likely benign	19	33387929	33387929	Human		name
156353009	CV1893454	single nucleotide variant	NM_000285.4(PEPD):c.151G>A (p.Gly51Arg)	not provided [RCV003091128]	likely benign	19	33512643	33512643	Human		name
156406508	CV1921613	single nucleotide variant	NM_000285.4(PEPD):c.1230C>T (p.Thr410=)	not provided [RCV002606613]	likely benign	19	33388004	33388004	Human		name
156362639	CV1934729	single nucleotide variant	NM_000285.4(PEPD):c.184G>A (p.Gly62Arg)	Inborn genetic diseases [RCV004654166]\|not provided [RCV002651745]	uncertain significance	19	33512610	33512610	Human	1	name
156446631	CV1947976	single nucleotide variant	NM_000285.4(PEPD):c.1167C>T (p.Ile389=)	not provided [RCV003118142]	likely benign	19	33388067	33388067	Human		name
156297377	CV2017130	single nucleotide variant	NM_000285.4(PEPD):c.167G>A (p.Arg56His)	Inborn genetic diseases [RCV002715904]\|not provided [RCV002715903]	uncertain significance	19	33512627	33512627	Human	1	name
156169282	CV2075457	single nucleotide variant	NM_000285.4(PEPD):c.196C>A (p.Arg66Ser)	not provided [RCV002851481]	uncertain significance	19	33512598	33512598	Human		name
155933724	CV2138545	single nucleotide variant	NM_000285.4(PEPD):c.133A>G (p.Ile45Val)	not provided [RCV002993566]	likely benign\|uncertain significance	19	33512661	33512661	Human		name
156125310	CV2175959	single nucleotide variant	NM_000285.4(PEPD):c.1101G>A (p.Gly367=)	not provided [RCV003039479]	likely benign	19	33391346	33391346	Human		name
329400798	CV2448907	single nucleotide variant	NM_000285.4(PEPD):c.266A>G (p.Asp89Gly)	Inborn genetic diseases [RCV003197800]	uncertain significance	19	33511091	33511091	Human	1	name
402478177	CV2854502	single nucleotide variant	NM_000285.4(PEPD):c.1059C>T (p.Ala353=)	not provided [RCV003543713]	likely benign	19	33391388	33391388	Human		name
402474543	CV2858214	single nucleotide variant	NM_000285.4(PEPD):c.1461C>T (p.Thr487=)	not provided [RCV003543151]	likely benign	19	33387365	33387365	Human		name
405095061	CV2874838	single nucleotide variant	NM_000285.4(PEPD):c.1038C>T (p.Ile346=)	not provided [RCV003550193]	likely benign	19	33391409	33391409	Human		name
405093093	CV2878110	single nucleotide variant	NM_000285.4(PEPD):c.1185G>A (p.Arg395=)	not provided [RCV003549954]	likely benign	19	33388049	33388049	Human		name
405221541	CV2880812	single nucleotide variant	NM_000285.4(PEPD):c.1365C>G (p.Val455=)	not provided [RCV003554005]	likely benign	19	33387461	33387461	Human		name
405025110	CV2889650	single nucleotide variant	NM_000285.4(PEPD):c.1206C>T (p.His402=)	not provided [RCV003577918]	likely benign	19	33388028	33388028	Human		name
405026634	CV2889921	single nucleotide variant	NM_000285.4(PEPD):c.1155C>T (p.Gly385=)	not provided [RCV003578029]	likely benign	19	33388079	33388079	Human		name
405232209	CV2896330	single nucleotide variant	NM_000285.4(PEPD):c.1185G>C (p.Arg395=)	not provided [RCV003555703]	likely benign	19	33388049	33388049	Human		name
405210924	CV2921022	single nucleotide variant	NM_000285.4(PEPD):c.1113C>T (p.Phe371=)	not provided [RCV003567153]	likely benign	19	33391334	33391334	Human		name
402507726	CV2924359	single nucleotide variant	NM_000285.4(PEPD):c.1146C>T (p.Tyr382=)	not provided [RCV003574628]	likely benign	19	33391301	33391301	Human		name
402488853	CV2928533	single nucleotide variant	NM_000285.4(PEPD):c.1371G>A (p.Val457=)	not provided [RCV003572669]	likely benign	19	33387455	33387455	Human		name
402503041	CV2932493	single nucleotide variant	NM_000285.4(PEPD):c.1005C>A (p.Arg335=)	not provided [RCV003574108]	likely benign	19	33391442	33391442	Human		name
402520274	CV2943920	single nucleotide variant	NM_000285.4(PEPD):c.1308C>T (p.Asn436=)	not provided [RCV003663251]	likely benign	19	33387926	33387926	Human		name
405092965	CV2947022	single nucleotide variant	NM_000285.4(PEPD):c.1230C>G (p.Thr410=)	not provided [RCV003665358]	likely benign	19	33388004	33388004	Human		name
405092164	CV2947023	single nucleotide variant	NM_000285.4(PEPD):c.1215A>G (p.Pro405=)	not provided [RCV003665359]	likely benign	19	33388019	33388019	Human		name
405100532	CV2947914	single nucleotide variant	NM_000285.4(PEPD):c.1350C>A (p.Arg450=)	not provided [RCV003665979]	likely benign	19	33387476	33387476	Human		name
405136107	CV2958135	single nucleotide variant	NM_000285.4(PEPD):c.1264C>T (p.Leu422=)	not provided [RCV003672830]	likely benign	19	33387970	33387970	Human		name
405149952	CV2959645	single nucleotide variant	NM_000285.4(PEPD):c.1095T>C (p.Pro365=)	not provided [RCV003673935]	likely benign	19	33391352	33391352	Human		name
405157046	CV2960860	single nucleotide variant	NM_000285.4(PEPD):c.1041G>A (p.Leu347=)	not provided [RCV003670410]	likely benign	19	33391406	33391406	Human		name
405210509	CV2970602	single nucleotide variant	NM_000285.4(PEPD):c.1248C>T (p.Tyr416=)	not provided [RCV003679326]	likely benign	19	33387986	33387986	Human		name
402494034	CV2978340	duplication	NM_000285.4(PEPD):c.953dup (p.Ala319fs)	not provided [RCV003714060]	pathogenic	19	33401734	33401735	Human		name
405233651	CV2981853	single nucleotide variant	NM_000285.4(PEPD):c.1318C>T (p.Leu440=)	not provided [RCV003711933]	likely benign	19	33387916	33387916	Human		name
405230737	CV2987576	single nucleotide variant	NM_000285.4(PEPD):c.163C>T (p.Gln55Ter)	not provided [RCV003711477]	pathogenic	19	33512631	33512631	Human		name
405007306	CV3006492	single nucleotide variant	NM_000285.4(PEPD):c.1056C>T (p.Asp352=)	not provided [RCV003693689]	likely benign	19	33391391	33391391	Human		name
405035929	CV3016736	single nucleotide variant	NM_000285.4(PEPD):c.199C>T (p.Gln67Ter)	not provided [RCV003695943]	pathogenic	19	33512595	33512595	Human		name
405132521	CV3021949	single nucleotide variant	NM_000285.4(PEPD):c.1215A>C (p.Pro405=)	not provided [RCV003701800]	likely benign	19	33388019	33388019	Human		name
405147224	CV3024082	single nucleotide variant	NM_000285.4(PEPD):c.1107C>G (p.Gly369=)	not provided [RCV003703021]	likely benign	19	33391340	33391340	Human		name
402503584	CV3041784	single nucleotide variant	NM_000285.4(PEPD):c.1086G>A (p.Val362=)	not provided [RCV003714990]	likely benign	19	33391361	33391361	Human		name
405206030	CV3041917	single nucleotide variant	NM_000285.4(PEPD):c.1189C>T (p.Leu397=)	not provided [RCV003708016]	likely benign	19	33388045	33388045	Human		name
405159883	CV3061783	single nucleotide variant	NM_000285.4(PEPD):c.1075C>T (p.Leu359=)	not provided [RCV003727021]	likely benign	19	33391372	33391372	Human		name
405207533	CV3064666	single nucleotide variant	NM_000285.4(PEPD):c.1026C>T (p.Ala342=)	not provided [RCV003731528]	likely benign	19	33391421	33391421	Human		name
405204687	CV3067987	single nucleotide variant	NM_000285.4(PEPD):c.1422G>A (p.Glu474=)	not provided [RCV003731182]	likely benign	19	33387404	33387404	Human		name
405045554	CV3071454	single nucleotide variant	NM_000285.4(PEPD):c.1074C>T (p.His358=)	not provided [RCV003740227]	likely benign	19	33391373	33391373	Human		name
405234347	CV3073816	single nucleotide variant	NM_000285.4(PEPD):c.281C>G (p.Thr94Ser)	not provided [RCV003735599]	uncertain significance	19	33511076	33511076	Human		name
405031564	CV3077635	single nucleotide variant	NM_000285.4(PEPD):c.1332C>T (p.Arg444=)	not provided [RCV003739188]	likely benign	19	33387902	33387902	Human		name
405236231	CV3079768	single nucleotide variant	NM_000285.4(PEPD):c.1041G>C (p.Leu347=)	not provided [RCV003735952]	likely benign	19	33391406	33391406	Human		name
405146454	CV3126525	single nucleotide variant	NM_000285.4(PEPD):c.1275C>T (p.Ala425=)	not provided [RCV003817252]	likely benign	19	33387959	33387959	Human		name
405221079	CV3154709	single nucleotide variant	NM_000285.4(PEPD):c.1287G>A (p.Pro429=)	not provided [RCV003847204]	likely benign	19	33387947	33387947	Human		name
405139373	CV3155153	single nucleotide variant	NM_000285.4(PEPD):c.1461C>G (p.Thr487=)	not provided [RCV003855391]	likely benign	19	33387365	33387365	Human		name
405084148	CV3167237	single nucleotide variant	NM_000285.4(PEPD):c.1401C>T (p.Cys467=)	not provided [RCV003851818]	likely benign	19	33387425	33387425	Human		name
405238461	CV3169641	single nucleotide variant	NM_000285.4(PEPD):c.1050C>T (p.Ser350=)	not provided [RCV003866729]	likely benign	19	33391397	33391397	Human		name
404982325	CV3184186	single nucleotide variant	NM_000285.4(PEPD):c.1122T>C (p.Ile374=)	not provided [RCV003880678]	likely benign	19	33391325	33391325	Human		name
11612753	CV333098	single nucleotide variant	NM_000285.4(PEPD):c.1329T>C (p.Phe443=)	Prolidase deficiency [RCV000262030]\|not provided [RCV002057494]	likely benign\|uncertain significance	19	33387905	33387905	Human	1	name
11620359	CV333104	single nucleotide variant	NM_000285.4(PEPD):c.1098C>T (p.His366=)	PEPD-related disorder [RCV003940310]\|Prolidase deficiency [RCV000336127]\|not provided [RCV000967723]	benign\|likely benign\|uncertain significance	19	33391349	33391349	Human	1	name , trait , alternate_id
11619923	CV343212	single nucleotide variant	NM_000285.4(PEPD):c.1317C>T (p.Val439=)	PEPD-related disorder [RCV004754393]\|Prolidase deficiency [RCV000330861]\|not provided [RCV001516737]	benign\|likely benign\|uncertain significance	19	33387917	33387917	Human	1	name , trait , alternate_id
11615470	CV343220	single nucleotide variant	NM_000285.4(PEPD):c.1131C>T (p.His377=)	Prolidase deficiency [RCV000285859]\|not provided [RCV001514099]\|not specified [RCV000456000]	benign	19	33391316	33391316	Human	3	name
407528783	CV3470640	single nucleotide variant	NM_000285.4(PEPD):c.296G>T (p.Arg99Met)	Inborn genetic diseases [RCV004655703]	uncertain significance	19	33511061	33511061	Human	1	name
11630815	CV348565	single nucleotide variant	NM_000285.4(PEPD):c.1470T>C (p.Ser490=)	PEPD-related disorder [RCV003940309]\|Prolidase deficiency [RCV000360329]\|not provided [RCV002057491]	benign\|likely benign\|uncertain significance	19	33387356	33387356	Human	1	name , trait , alternate_id
11629116	CV348585	single nucleotide variant	NM_000285.4(PEPD):c.259G>A (p.Asp87Asn)	Prolidase deficiency [RCV000315182]\|not provided [RCV000884956]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	19	33511098	33511098	Human	1	name
11628230	CV349646	single nucleotide variant	NM_000285.4(PEPD):c.1365C>T (p.Val455=)	Prolidase deficiency [RCV000297200]	uncertain significance	19	33387461	33387461	Human	1	name
11631037	CV349647	single nucleotide variant	NM_000285.4(PEPD):c.1311C>T (p.Arg437=)	Prolidase deficiency [RCV000366808]\|not provided [RCV001859936]	likely benign\|uncertain significance	19	33387923	33387923	Human	1	name
11629605	CV349650	single nucleotide variant	NM_000285.4(PEPD):c.1281G>A (p.Ala427=)	Prolidase deficiency [RCV000328676]\|not provided [RCV001393146]	likely benign\|uncertain significance	19	33387953	33387953	Human	1	name
597713516	CV3575593	single nucleotide variant	NM_000285.4(PEPD):c.136G>A (p.Val46Met)	Inborn genetic diseases [RCV004959451]	uncertain significance	19	33512658	33512658	Human	1	name
597847361	CV3762008	single nucleotide variant	NM_000285.4(PEPD):c.122A>G (p.Gln41Arg)	not provided [RCV005087426]	uncertain significance	19	33512672	33512672	Human		name
597871201	CV3768295	single nucleotide variant	NM_000285.4(PEPD):c.1008C>T (p.Ile336=)	not provided [RCV005122674]	likely benign	19	33391439	33391439	Human		name
597928806	CV3779813	single nucleotide variant	NM_000285.4(PEPD):c.103C>T (p.Arg35Trp)	not provided [RCV005116342]	uncertain significance	19	33512691	33512691	Human		name
597936665	CV3807689	single nucleotide variant	NM_000285.4(PEPD):c.1197T>G (p.Thr399=)	not provided [RCV005158068]	likely benign	19	33388037	33388037	Human		name
597928826	CV3837344	single nucleotide variant	NM_000285.4(PEPD):c.1416G>T (p.Val472=)	not provided [RCV005185502]	likely benign	19	33387410	33387410	Human		name
598261551	CV3999594	single nucleotide variant	NM_000285.4(PEPD):c.173G>A (p.Cys58Tyr)	Inborn genetic diseases [RCV005386911]	uncertain significance	19	33512621	33512621	Human	1	name
13836470	CV587745	single nucleotide variant	NM_000285.4(PEPD):c.104G>A (p.Arg35Gln)	Prolidase deficiency [RCV001127105]\|not provided [RCV000732597]	conflicting interpretations of pathogenicity\|uncertain significance	19	33512690	33512690	Human	1	name
15145889	CV756901	single nucleotide variant	NM_000285.4(PEPD):c.1296C>G (p.Ala432=)	not provided [RCV000922621]	likely benign	19	33387938	33387938	Human		name
21075015	CV798745	deletion	NM_000285.4(PEPD):c.540del (p.Ile180fs)	Prolidase deficiency [RCV000995832]	pathogenic	19	33478054	33478054	Human	1	name
28899395	CV880276	single nucleotide variant	NM_000285.4(PEPD):c.1353C>T (p.Ile451=)	Prolidase deficiency [RCV001123937]\|not provided [RCV003769198]	likely benign\|uncertain significance	19	33387473	33387473	Human	1	name
28909335	CV880279	single nucleotide variant	NM_000285.4(PEPD):c.1134C>T (p.Asp378=)	Prolidase deficiency [RCV001128665]\|not provided [RCV001509866]	benign\|uncertain significance	19	33391313	33391313	Human	1	name
28909337	CV880280	single nucleotide variant	NM_000285.4(PEPD):c.1125C>T (p.Asp375=)	Prolidase deficiency [RCV001128666]\|not provided [RCV001702581]	benign\|likely benign\|uncertain significance	19	33391322	33391322	Human	1	name
126733630	CV1013666	single nucleotide variant	NM_000285.4(PEPD):c.778G>A (p.Gly260Arg)	Prolidase deficiency [RCV003130258]\|not provided [RCV001313430]	uncertain significance	19	33411712	33411712	Human	1	name
126749025	CV1013667	single nucleotide variant	NM_000285.4(PEPD):c.385G>A (p.Val129Ile)	not provided [RCV001326452]	uncertain significance	19	33500946	33500946	Human		name
126741756	CV1018535	single nucleotide variant	NM_000285.4(PEPD):c.376G>A (p.Val126Ile)	Prolidase deficiency [RCV001329775]\|not provided [RCV001859266]	uncertain significance	19	33500955	33500955	Human	1	name
126759272	CV1034225	single nucleotide variant	NM_000285.4(PEPD):c.913G>A (p.Val305Ile)	not provided [RCV001340083]	conflicting interpretations of pathogenicity\|uncertain significance	19	33401775	33401775	Human		name
150420726	CV1195381	single nucleotide variant	NM_000285.4(PEPD):c.796A>G (p.Thr266Ala)	not provided [RCV001570245]	uncertain significance	19	33411694	33411694	Human		name
150533670	CV1294302	single nucleotide variant	NM_000285.4(PEPD):c.940C>T (p.Arg314Cys)	PEPD-related disorder [RCV003407787]\|not provided [RCV001758320]	uncertain significance	19	33401748	33401748	Human	1	name , trait , alternate_id
150554295	CV1295713	single nucleotide variant	NM_000285.4(PEPD):c.901G>T (p.Asp301Tyr)	PEPD-related disorder [RCV003401680]\|not provided [RCV001770943]	uncertain significance	19	33401787	33401787	Human	1	name , trait , alternate_id
150552252	CV1301192	single nucleotide variant	NM_000285.4(PEPD):c.788A>G (p.Asn263Ser)	not provided [RCV001767602]	uncertain significance	19	33411702	33411702	Human		name
150543205	CV1315139	single nucleotide variant	NM_000285.4(PEPD):c.418A>T (p.Lys140Ter)	Prolidase deficiency [RCV001782595]\|not provided [RCV003738096]	pathogenic\|likely pathogenic	19	33493313	33493313	Human	1	name
151893120	CV1337803	single nucleotide variant	NM_000285.4(PEPD):c.841T>A (p.Tyr281Asn)	Inborn genetic diseases [RCV002550378]\|not provided [RCV001944777]	uncertain significance	19	33401847	33401847	Human	1	name
151794969	CV1338467	single nucleotide variant	NM_000285.4(PEPD):c.769G>A (p.Gly257Arg)	Inborn genetic diseases [RCV005382242]\|not provided [RCV001898530]	uncertain significance	19	33411721	33411721	Human	1	name
151771960	CV1346295	single nucleotide variant	NM_000285.4(PEPD):c.853G>A (p.Ala285Thr)	Inborn genetic diseases [RCV004043077]\|not provided [RCV001950244]	uncertain significance	19	33401835	33401835	Human	1	name
151890539	CV1349008	single nucleotide variant	NM_000285.4(PEPD):c.941G>A (p.Arg314His)	not provided [RCV001943069]	likely benign\|uncertain significance	19	33401747	33401747	Human		name
151761084	CV1349507	single nucleotide variant	NM_000285.4(PEPD):c.340A>T (p.Lys114Ter)	not provided [RCV001949148]	pathogenic	19	33500991	33500991	Human		name
151823330	CV1351432	single nucleotide variant	NM_000285.4(PEPD):c.859G>A (p.Asp287Asn)	Prolidase deficiency [RCV002497859]\|not provided [RCV001992997]	uncertain significance	19	33401829	33401829	Human	1	name
151793529	CV1353727	single nucleotide variant	NM_000285.4(PEPD):c.671G>T (p.Ser224Ile)	not provided [RCV001990297]	uncertain significance	19	33462995	33462995	Human		name
151810690	CV1359311	single nucleotide variant	NM_000285.4(PEPD):c.563C>T (p.Thr188Met)	not provided [RCV001991798]\|not specified [RCV002282676]	uncertain significance	19	33464048	33464048	Human		name
151864563	CV1361278	single nucleotide variant	NM_000285.4(PEPD):c.985A>G (p.Met329Val)	not provided [RCV001905731]	uncertain significance	19	33391462	33391462	Human		name
151848288	CV1362074	single nucleotide variant	NM_000285.4(PEPD):c.550C>T (p.Arg184Ter)	Prolidase deficiency [RCV002497819]\|not provided [RCV001937013]	pathogenic	19	33464061	33464061	Human	1	name
151776773	CV1365706	single nucleotide variant	NM_000285.4(PEPD):c.725C>T (p.Thr242Ile)	not provided [RCV001915505]	uncertain significance	19	33413590	33413590	Human		name
151744289	CV1368100	single nucleotide variant	NM_000285.4(PEPD):c.978G>C (p.Trp326Cys)	not provided [RCV001871339]	uncertain significance	19	33391469	33391469	Human		name
151783173	CV1369955	single nucleotide variant	NM_000285.4(PEPD):c.511G>C (p.Val171Leu)	not provided [RCV001930630]	uncertain significance	19	33478083	33478083	Human		name
151752303	CV1370545	single nucleotide variant	NM_000285.4(PEPD):c.425C>T (p.Ser142Phe)	not provided [RCV001894458]	uncertain significance	19	33493306	33493306	Human		name
151854749	CV1372718	single nucleotide variant	NM_000285.4(PEPD):c.619C>T (p.Arg207Cys)	Inborn genetic diseases [RCV005382342]\|not provided [RCV001996399]	likely benign\|uncertain significance	19	33463992	33463992	Human	1	name
151752671	CV1379855	single nucleotide variant	NM_000285.4(PEPD):c.994C>A (p.Leu332Met)	Inborn genetic diseases [RCV005382284]\|not provided [RCV001948304]	uncertain significance	19	33391453	33391453	Human	1	name
151765693	CV1387565	single nucleotide variant	NM_000285.4(PEPD):c.389A>T (p.Asp130Val)	Inborn genetic diseases [RCV004955967]\|not provided [RCV001987752]	uncertain significance	19	33500942	33500942	Human	1	name
151878993	CV1410071	single nucleotide variant	NM_000285.4(PEPD):c.678C>G (p.Phe226Leu)	not provided [RCV001940756]	uncertain significance	19	33413637	33413637	Human		name
151722847	CV1412306	single nucleotide variant	NM_000285.4(PEPD):c.992G>T (p.Arg331Leu)	not provided [RCV001891349]	uncertain significance	19	33391455	33391455	Human		name
151844838	CV1414892	single nucleotide variant	NM_000285.4(PEPD):c.932G>A (p.Arg311Gln)	not provided [RCV001903293]	uncertain significance	19	33401756	33401756	Human		name
151892167	CV1422972	single nucleotide variant	NM_000285.4(PEPD):c.697C>T (p.Arg233Trp)	Prolidase deficiency [RCV003989733]\|not provided [RCV001943831]	uncertain significance	19	33413618	33413618	Human	1	name
151725298	CV1437257	single nucleotide variant	NM_000285.4(PEPD):c.880G>A (p.Ala294Thr)	not provided [RCV002004186]	uncertain significance	19	33401808	33401808	Human		name
151841243	CV1438192	single nucleotide variant	NM_000285.4(PEPD):c.779G>A (p.Gly260Glu)	not provided [RCV001921560]	uncertain significance	19	33411711	33411711	Human		name
151841526	CV1438233	single nucleotide variant	NM_000285.4(PEPD):c.775G>A (p.Ala259Thr)	not provided [RCV001921590]	uncertain significance	19	33411715	33411715	Human		name
151711655	CV1440283	single nucleotide variant	NM_000285.4(PEPD):c.663G>C (p.Glu221Asp)	not provided [RCV001908133]	uncertain significance	19	33463003	33463003	Human		name
151728544	CV1444439	single nucleotide variant	NM_000285.4(PEPD):c.508G>A (p.Glu170Lys)	Inborn genetic diseases [RCV002561376]\|not provided [RCV001945805]	likely benign\|uncertain significance	19	33478086	33478086	Human	1	name
151818317	CV1449796	single nucleotide variant	NM_000285.4(PEPD):c.620G>A (p.Arg207His)	Inborn genetic diseases [RCV002551645]\|not provided [RCV001878965]	uncertain significance	19	33463991	33463991	Human	1	name
151739054	CV1455147	single nucleotide variant	NM_000285.4(PEPD):c.737G>A (p.Gly246Asp)	not provided [RCV002005632]	uncertain significance	19	33413578	33413578	Human		name
151754375	CV1467626	single nucleotide variant	NM_000285.4(PEPD):c.403G>A (p.Val135Ile)	Inborn genetic diseases [RCV005382287]\|not provided [RCV001948474]	uncertain significance	19	33493328	33493328	Human	1	name
151719463	CV1468701	single nucleotide variant	NM_000285.4(PEPD):c.868T>C (p.Cys290Arg)	not provided [RCV002003438]	uncertain significance	19	33401820	33401820	Human		name
151874190	CV1470357	single nucleotide variant	NM_000285.4(PEPD):c.586C>T (p.Arg196Cys)	not provided [RCV001885652]	uncertain significance	19	33464025	33464025	Human		name
151722304	CV1489742	single nucleotide variant	NM_000285.4(PEPD):c.973T>C (p.Trp325Arg)	not provided [RCV001891281]	uncertain significance	19	33391474	33391474	Human		name
151814510	CV1494893	single nucleotide variant	NM_000285.4(PEPD):c.565G>A (p.Asp189Asn)	not provided [RCV001954149]	uncertain significance	19	33464046	33464046	Human		name
151732754	CV1497692	single nucleotide variant	NM_000285.4(PEPD):c.388G>T (p.Asp130Tyr)	Inborn genetic diseases [RCV002562073]\|not provided [RCV001946222]	uncertain significance	19	33500943	33500943	Human	1	name
151719671	CV1498106	single nucleotide variant	NM_000285.4(PEPD):c.610G>C (p.Glu204Gln)	not provided [RCV001965772]	uncertain significance	19	33464001	33464001	Human		name
151732505	CV1512302	single nucleotide variant	NM_000285.4(PEPD):c.330G>C (p.Lys110Asn)	not provided [RCV002021451]	uncertain significance	19	33501001	33501001	Human		name
8594892	CV15247	single nucleotide variant	NM_000285.4(PEPD):c.826G>A (p.Asp276Asn)	Prolidase deficiency [RCV000000232]\|not provided [RCV000520088]	pathogenic\|likely pathogenic	19	33401862	33401862	Human	1	name
8594893	CV15250	single nucleotide variant	NM_000285.4(PEPD):c.551G>A (p.Arg184Gln)	Prolidase deficiency [RCV000000235]\|not provided [RCV003555875]	pathogenic\|likely pathogenic	19	33464060	33464060	Human	1	name
8594894	CV15251	single nucleotide variant	NM_000285.4(PEPD):c.833G>A (p.Gly278Asp)	Prolidase deficiency [RCV000000236]\|not provided [RCV002512597]	pathogenic\|likely pathogenic	19	33401855	33401855	Human	1	name
8594896	CV15254	single nucleotide variant	NM_000285.4(PEPD):c.793C>T (p.Arg265Ter)	Prolidase deficiency [RCV000000239]\|not provided [RCV003555876]	pathogenic	19	33411697	33411697	Human	1	name
8594898	CV15257	single nucleotide variant	NM_000285.4(PEPD):c.605C>T (p.Ser202Phe)	Prolidase deficiency [RCV000000242]	pathogenic	19	33464006	33464006	Human	1	name
152060297	CV1559171	single nucleotide variant	NM_000285.4(PEPD):c.541G>C (p.Val181Leu)	not provided [RCV002167919]	likely benign	19	33478053	33478053	Human		name
155944530	CV1875203	single nucleotide variant	NM_000285.4(PEPD):c.596A>G (p.Asn199Ser)	not provided [RCV003073762]	uncertain significance	19	33464015	33464015	Human		name
156152510	CV1875207	single nucleotide variant	NM_000285.4(PEPD):c.991C>T (p.Arg331Cys)	not provided [RCV003056586]	uncertain significance	19	33391456	33391456	Human		name
156222166	CV1879361	single nucleotide variant	NM_000285.4(PEPD):c.587G>A (p.Arg196His)	Inborn genetic diseases [RCV004070272]\|not provided [RCV003058984]	uncertain significance	19	33464024	33464024	Human	1	name
156289845	CV1881733	single nucleotide variant	NM_000285.4(PEPD):c.886G>A (p.Gly296Ser)	not provided [RCV003061407]	uncertain significance	19	33401802	33401802	Human		name
156022751	CV1882484	single nucleotide variant	NM_000285.4(PEPD):c.507C>G (p.Phe169Leu)	not provided [RCV003077705]	likely benign\|uncertain significance	19	33478087	33478087	Human		name
155961124	CV1884784	single nucleotide variant	NM_000285.4(PEPD):c.992G>A (p.Arg331His)	not provided [RCV003074689]	uncertain significance	19	33391455	33391455	Human		name
156192304	CV1893049	single nucleotide variant	NM_000285.4(PEPD):c.698G>A (p.Arg233Gln)	not provided [RCV003083913]	uncertain significance	19	33413617	33413617	Human		name
156169897	CV1930139	single nucleotide variant	NM_000285.4(PEPD):c.610G>A (p.Glu204Lys)	not provided [RCV002624671]	uncertain significance	19	33464001	33464001	Human		name
156160386	CV1933177	single nucleotide variant	NM_000285.4(PEPD):c.917A>G (p.Tyr306Cys)	Inborn genetic diseases [RCV004070767]\|not provided [RCV002624347]	uncertain significance	19	33401771	33401771	Human	1	name
156447359	CV1945004	single nucleotide variant	NM_000285.4(PEPD):c.967G>A (p.Gly323Ser)	not provided [RCV003118887]	uncertain significance	19	33401721	33401721	Human		name
156143493	CV1957412	single nucleotide variant	NM_000285.4(PEPD):c.351C>A (p.Phe117Leu)	not provided [RCV002572655]	uncertain significance	19	33500980	33500980	Human		name
155902049	CV1975712	single nucleotide variant	NM_000285.4(PEPD):c.538A>G (p.Ile180Val)	not provided [RCV002613448]	uncertain significance	19	33478056	33478056	Human		name
156357977	CV2006742	single nucleotide variant	NM_000285.4(PEPD):c.986T>C (p.Met329Thr)	not provided [RCV002676055]	uncertain significance	19	33391461	33391461	Human		name
156098556	CV2009601	single nucleotide variant	NM_000285.4(PEPD):c.436A>G (p.Thr146Ala)	not provided [RCV002706579]	uncertain significance	19	33493295	33493295	Human		name
156318196	CV2025131	single nucleotide variant	NM_000285.4(PEPD):c.493G>A (p.Gly165Ser)	not provided [RCV002716925]	uncertain significance	19	33490006	33490006	Human		name
155934709	CV2027516	single nucleotide variant	NM_000285.4(PEPD):c.946G>T (p.Val316Phe)	not provided [RCV002774787]	uncertain significance	19	33401742	33401742	Human		name
156031838	CV2036972	single nucleotide variant	NM_000285.4(PEPD):c.814A>G (p.Met272Val)	not provided [RCV002781142]	uncertain significance	19	33411676	33411676	Human		name
155938004	CV2046028	single nucleotide variant	NM_000285.4(PEPD):c.386T>C (p.Val129Ala)	not provided [RCV002751594]	uncertain significance	19	33500945	33500945	Human		name
156025591	CV2055802	single nucleotide variant	NM_000285.4(PEPD):c.412T>C (p.Ser138Pro)	not provided [RCV002820829]	uncertain significance	19	33493319	33493319	Human		name
155995570	CV2064002	single nucleotide variant	NM_000285.4(PEPD):c.742G>A (p.Gly248Ser)	not provided [RCV002843164]	uncertain significance	19	33411748	33411748	Human		name
10408577	CV206590	single nucleotide variant	NM_000285.4(PEPD):c.634G>C (p.Ala212Pro)	Prolidase deficiency [RCV000195145]\|not provided [RCV002517036]	pathogenic\|likely pathogenic\|not provided	19	33463032	33463032	Human	1	name
155957374	CV2078403	single nucleotide variant	NM_000285.4(PEPD):c.313G>T (p.Ala105Ser)	not provided [RCV002880839]	uncertain significance	19	33511044	33511044	Human		name
156107480	CV2096498	single nucleotide variant	NM_000285.4(PEPD):c.566A>G (p.Asp189Gly)	not provided [RCV002913640]	uncertain significance	19	33464045	33464045	Human		name
156091650	CV2102700	single nucleotide variant	NM_000285.4(PEPD):c.790G>A (p.Asp264Asn)	Inborn genetic diseases [RCV004958815]\|not provided [RCV002913060]	uncertain significance	19	33411700	33411700	Human	1	name
156326662	CV2116051	single nucleotide variant	NM_000285.4(PEPD):c.988C>T (p.His330Tyr)	not provided [RCV002938122]	uncertain significance	19	33391459	33391459	Human		name
155939396	CV2119711	single nucleotide variant	NM_000285.4(PEPD):c.789C>A (p.Asn263Lys)	Inborn genetic diseases [RCV004068243]\|not provided [RCV002971178]	uncertain significance	19	33411701	33411701	Human	1	name
156013344	CV2121219	single nucleotide variant	NM_000285.4(PEPD):c.347A>G (p.His116Arg)	not provided [RCV002948398]	uncertain significance	19	33500984	33500984	Human		name
156153795	CV2121706	single nucleotide variant	NM_000285.4(PEPD):c.968G>A (p.Gly323Asp)	not provided [RCV002928990]	uncertain significance	19	33391479	33391479	Human		name
156391918	CV2127249	single nucleotide variant	NM_000285.4(PEPD):c.403G>T (p.Val135Phe)	Inborn genetic diseases [RCV004958892]\|not provided [RCV002943989]	uncertain significance	19	33493328	33493328	Human	1	name
156042135	CV2130750	single nucleotide variant	NM_000285.4(PEPD):c.494G>A (p.Gly165Asp)	Inborn genetic diseases [RCV002967397]\|not provided [RCV002949662]	uncertain significance	19	33490005	33490005	Human	1	name
156077348	CV2141828	single nucleotide variant	NM_000285.4(PEPD):c.984C>G (p.Asp328Glu)	not provided [RCV002979136]	uncertain significance	19	33391463	33391463	Human		name
155942114	CV2143027	single nucleotide variant	NM_000285.4(PEPD):c.367G>A (p.Val123Met)	not provided [RCV002994122]	uncertain significance	19	33500964	33500964	Human		name
155937805	CV2146368	single nucleotide variant	NM_000285.4(PEPD):c.991C>A (p.Arg331Ser)	not provided [RCV003014062]	uncertain significance	19	33391456	33391456	Human		name
156246336	CV2147925	single nucleotide variant	NM_000285.4(PEPD):c.596A>T (p.Asn199Ile)	not provided [RCV003026188]	uncertain significance	19	33464015	33464015	Human		name
155988056	CV2159888	single nucleotide variant	NM_000285.4(PEPD):c.709C>A (p.Arg237Ser)	not provided [RCV003034195]	uncertain significance	19	33413606	33413606	Human		name
156184387	CV2178568	single nucleotide variant	NM_000285.4(PEPD):c.881C>G (p.Ala294Gly)	not provided [RCV003057630]	uncertain significance	19	33401807	33401807	Human		name
156152987	CV2209411	single nucleotide variant	NM_000285.4(PEPD):c.864C>G (p.Ile288Met)	Inborn genetic diseases [RCV002697760]	uncertain significance	19	33401824	33401824	Human	1	name
156261650	CV2319735	single nucleotide variant	NM_000285.4(PEPD):c.517A>G (p.Asn173Asp)	Inborn genetic diseases [RCV002959786]	uncertain significance	19	33478077	33478077	Human	1	name
401782172	CV2719211	single nucleotide variant	NM_000285.4(PEPD):c.322A>G (p.Met108Val)	Inborn genetic diseases [RCV003308875]	uncertain significance	19	33511035	33511035	Human	1	name
401830455	CV2748157	single nucleotide variant	NM_000285.4(PEPD):c.769G>T (p.Gly257Ter)	not provided [RCV003329764]	pathogenic	19	33411721	33411721	Human		name
401887371	CV2773363	single nucleotide variant	NM_000285.4(PEPD):c.446G>A (p.Gly149Asp)	Inborn genetic diseases [RCV003367144]	uncertain significance	19	33490053	33490053	Human	1	name
401961109	CV2844513	single nucleotide variant	NM_000285.4(PEPD):c.331A>G (p.Ile111Val)	not provided [RCV003480308]	uncertain significance	19	33501000	33501000	Human		name
402477013	CV2857285	single nucleotide variant	NM_000285.4(PEPD):c.881C>T (p.Ala294Val)	not provided [RCV003543453]	uncertain significance	19	33401807	33401807	Human		name
405213388	CV2918353	single nucleotide variant	NM_000285.4(PEPD):c.379C>T (p.Gln127Ter)	not provided [RCV003567449]	pathogenic	19	33500952	33500952	Human		name
405161040	CV2955049	single nucleotide variant	NM_000285.4(PEPD):c.694T>A (p.Ser232Thr)	not provided [RCV003670643]	uncertain significance	19	33413621	33413621	Human		name
405240716	CV3004544	single nucleotide variant	NM_000285.4(PEPD):c.829A>G (p.Met277Val)	not provided [RCV003719143]	uncertain significance	19	33401859	33401859	Human		name
405149905	CV3031246	single nucleotide variant	NM_000285.4(PEPD):c.843T>G (p.Tyr281Ter)	not provided [RCV003703218]	pathogenic	19	33401845	33401845	Human		name
402480194	CV3033185	deletion	NM_000285.4(PEPD):c.1264del (p.Leu422fs)	not provided [RCV003712683]	pathogenic	19	33387970	33387970	Human		name
405240940	CV3060976	deletion	NM_000285.4(PEPD):c.68_69del (p.Phe23fs)	not provided [RCV003737243]	pathogenic	19	33512725	33512726	Human		name
11625207	CV333116	single nucleotide variant	NM_000285.4(PEPD):c.946G>A (p.Val316Ile)	Prolidase deficiency [RCV000396076]\|not provided [RCV001850753]	conflicting interpretations of pathogenicity\|uncertain significance	19	33401742	33401742	Human	1	name
405790613	CV3368380	single nucleotide variant	NM_000285.4(PEPD):c.830T>C (p.Met277Thr)	Inborn genetic diseases [RCV004505800]	uncertain significance	19	33401858	33401858	Human	1	name
11621486	CV343230	single nucleotide variant	NM_000285.4(PEPD):c.427G>A (p.Val143Ile)	Prolidase deficiency [RCV000348554]\|not provided [RCV002521207]	uncertain significance	19	33493304	33493304	Human	1	name
407463974	CV3470642	single nucleotide variant	NM_000285.4(PEPD):c.404T>A (p.Val135Asp)	Inborn genetic diseases [RCV004659835]	uncertain significance	19	33493327	33493327	Human	1	name
11627180	CV348572	single nucleotide variant	NM_000285.4(PEPD):c.751T>A (p.Ser251Thr)	Prolidase deficiency [RCV000276809]\|not provided [RCV001320938]	uncertain significance	19	33411739	33411739	Human	1	name
11631332	CV348578	single nucleotide variant	NM_000285.4(PEPD):c.448G>A (p.Val150Ile)	Prolidase deficiency [RCV000373989]	uncertain significance	19	33490051	33490051	Human	1	name
11630918	CV349660	single nucleotide variant	NM_000285.4(PEPD):c.710G>A (p.Arg237His)	Prolidase deficiency [RCV000363008]\|not provided [RCV001850754]	uncertain significance	19	33413605	33413605	Human	1	name
597713506	CV3575592	single nucleotide variant	NM_000285.4(PEPD):c.595A>C (p.Asn199His)	Inborn genetic diseases [RCV004959450]	uncertain significance	19	33464016	33464016	Human	1	name
597660858	CV3709483	single nucleotide variant	NM_000285.4(PEPD):c.768C>G (p.Tyr256Ter)	Prolidase deficiency [RCV005028469]	pathogenic	19	33411722	33411722	Human	1	name
597914120	CV3778810	single nucleotide variant	NM_000285.4(PEPD):c.806A>T (p.Asn269Ile)	not provided [RCV005129155]	uncertain significance	19	33411684	33411684	Human		name
597963713	CV3830272	single nucleotide variant	NM_000285.4(PEPD):c.914T>C (p.Val305Ala)	not provided [RCV005164412]	uncertain significance	19	33401774	33401774	Human		name
598196661	CV3999590	single nucleotide variant	NM_000285.4(PEPD):c.499A>G (p.Ser167Gly)	Inborn genetic diseases [RCV005397750]	uncertain significance	19	33490000	33490000	Human	1	name
598261540	CV3999591	single nucleotide variant	NM_000285.4(PEPD):c.841T>C (p.Tyr281His)	Inborn genetic diseases [RCV005386908]	uncertain significance	19	33401847	33401847	Human	1	name
598261544	CV3999592	single nucleotide variant	NM_000285.4(PEPD):c.707T>C (p.Met236Thr)	Inborn genetic diseases [RCV005386909]	uncertain significance	19	33413608	33413608	Human	1	name
598261547	CV3999593	single nucleotide variant	NM_000285.4(PEPD):c.613G>C (p.Ala205Pro)	Inborn genetic diseases [RCV005386910]	uncertain significance	19	33463998	33463998	Human	1	name
598196667	CV3999595	single nucleotide variant	NM_000285.4(PEPD):c.334C>T (p.His112Tyr)	Inborn genetic diseases [RCV005397751]	uncertain significance	19	33500997	33500997	Human	1	name
14395812	CV611902	single nucleotide variant	NM_000285.4(PEPD):c.977G>A (p.Trp326Ter)	not provided [RCV000760509]	pathogenic\|likely pathogenic	19	33391470	33391470	Human		name
15120181	CV716365	single nucleotide variant	NM_000285.4(PEPD):c.863T>C (p.Ile288Thr)	PEPD-related disorder [RCV003926186]\|Prolidase deficiency [RCV001122979]\|not provided [RCV000962679]\|not specified [RCV001701268]	benign	19	33401825	33401825	Human	1	name , trait , alternate_id
15167060	CV716366	single nucleotide variant	NM_000285.4(PEPD):c.794G>A (p.Arg265Gln)	not provided [RCV000971318]	likely benign	19	33411696	33411696	Human		name
15182883	CV716367	single nucleotide variant	NM_000285.4(PEPD):c.509A>T (p.Glu170Val)	PEPD-related disorder [RCV003918569]\|not provided [RCV000974744]	benign	19	33478085	33478085	Human	1	name , trait , alternate_id
15182887	CV716368	single nucleotide variant	NM_000285.4(PEPD):c.442C>T (p.Arg148Cys)	PEPD-related disorder [RCV003918570]\|not provided [RCV000974745]	benign	19	33490057	33490057	Human	1	name , trait , alternate_id
28896825	CV880282	single nucleotide variant	NM_000285.4(PEPD):c.757G>A (p.Val253Met)	Prolidase deficiency [RCV001122980]\|not provided [RCV002556653]	uncertain significance	19	33411733	33411733	Human	1	name
28899683	CV880283	single nucleotide variant	NM_000285.4(PEPD):c.736G>A (p.Gly246Ser)	Prolidase deficiency [RCV001124046]	uncertain significance	19	33413579	33413579	Human	1	name
28906532	CV880287	single nucleotide variant	NM_000285.4(PEPD):c.331A>T (p.Ile111Phe)	Prolidase deficiency [RCV001127103]	uncertain significance	19	33501000	33501000	Human	1	name
126761021	CV998504	single nucleotide variant	NM_000285.4(PEPD):c.895A>T (p.Thr299Ser)	not provided [RCV001299964]	uncertain significance	19	33401793	33401793	Human		name
126749527	CV1034224	single nucleotide variant	NM_000285.4(PEPD):c.1331G>A (p.Arg444His)	not provided [RCV001352070]	uncertain significance	19	33387903	33387903	Human		name
126916823	CV1051212	single nucleotide variant	NM_000285.4(PEPD):c.1254C>G (p.Ile418Met)	not provided [RCV001371729]	uncertain significance	19	33387980	33387980	Human		name
151811415	CV1345315	single nucleotide variant	NM_000285.4(PEPD):c.1057G>A (p.Ala353Thr)	not provided [RCV001878307]	uncertain significance	19	33391390	33391390	Human		name
151794238	CV1348173	single nucleotide variant	NM_000285.4(PEPD):c.1435A>G (p.Met479Val)	not provided [RCV001876794]	uncertain significance	19	33387391	33387391	Human		name
151813208	CV1366204	single nucleotide variant	NM_000285.4(PEPD):c.1310G>A (p.Arg437His)	not provided [RCV001933411]	uncertain significance	19	33387924	33387924	Human		name
151768634	CV1367499	single nucleotide variant	NM_000285.4(PEPD):c.1255G>C (p.Asp419His)	not provided [RCV001863861]	uncertain significance	19	33387979	33387979	Human		name
151830529	CV1379095	single nucleotide variant	NM_000285.4(PEPD):c.1135G>A (p.Val379Met)	not provided [RCV001935011]	uncertain significance	19	33391312	33391312	Human		name
151882734	CV1383903	single nucleotide variant	NM_000285.4(PEPD):c.1102C>T (p.Leu368Phe)	not provided [RCV001886789]	uncertain significance	19	33391345	33391345	Human		name
151852387	CV1397329	single nucleotide variant	NM_000285.4(PEPD):c.1323G>C (p.Gln441His)	not provided [RCV001958171]	uncertain significance	19	33387911	33387911	Human		name
151880267	CV1405836	single nucleotide variant	NM_000285.4(PEPD):c.1030A>G (p.Met344Val)	Inborn genetic diseases [RCV004042024]\|not provided [RCV001940915]	uncertain significance	19	33391417	33391417	Human	1	name
151879128	CV1412619	single nucleotide variant	NM_000285.4(PEPD):c.1330C>T (p.Arg444Cys)	not provided [RCV001926205]	uncertain significance	19	33387904	33387904	Human		name
151775644	CV1427075	single nucleotide variant	NM_000285.4(PEPD):c.1244T>A (p.Ile415Asn)	not provided [RCV002009264]	conflicting interpretations of pathogenicity\|uncertain significance	19	33387990	33387990	Human		name
151790961	CV1436183	single nucleotide variant	NM_000285.4(PEPD):c.1162C>T (p.Arg388Cys)	Inborn genetic diseases [RCV005382302]\|not provided [RCV001990075]	uncertain significance	19	33388072	33388072	Human	1	name
151712978	CV1441174	single nucleotide variant	NM_000285.4(PEPD):c.1333G>A (p.Gly445Ser)	not provided [RCV001964658]	uncertain significance	19	33387901	33387901	Human		name
151754966	CV1449182	single nucleotide variant	NM_000285.4(PEPD):c.1168G>A (p.Asp390Asn)	not provided [RCV001986661]	uncertain significance	19	33388066	33388066	Human		name
151849103	CV1453092	single nucleotide variant	NM_000285.4(PEPD):c.1004G>A (p.Arg335His)	Inborn genetic diseases [RCV003264118]\|not provided [RCV002032924]	uncertain significance	19	33391443	33391443	Human	1	name
151786354	CV1456252	single nucleotide variant	NM_000285.4(PEPD):c.1202G>A (p.Arg401Gln)	Inborn genetic diseases [RCV004651733]\|not provided [RCV002046647]	uncertain significance	19	33388032	33388032	Human	1	name
151823325	CV1456573	single nucleotide variant	NM_000285.4(PEPD):c.1309C>G (p.Arg437Gly)	not provided [RCV002030102]	uncertain significance	19	33387925	33387925	Human		name
151825079	CV1456618	single nucleotide variant	NM_000285.4(PEPD):c.1292G>C (p.Arg431Pro)	not provided [RCV002050175]	uncertain significance	19	33387942	33387942	Human		name
151718416	CV1458689	single nucleotide variant	NM_000285.4(PEPD):c.1463C>G (p.Pro488Arg)	Inborn genetic diseases [RCV002579609]\|not provided [RCV002003284]	uncertain significance	19	33387363	33387363	Human	1	name
151829138	CV1465484	single nucleotide variant	NM_000285.4(PEPD):c.1354G>A (p.Glu452Lys)	not provided [RCV002014140]	uncertain significance	19	33387472	33387472	Human		name
151829970	CV1465586	single nucleotide variant	NM_000285.4(PEPD):c.1460C>T (p.Thr487Ile)	not provided [RCV002014217]	uncertain significance	19	33387366	33387366	Human		name
151741378	CV1466787	single nucleotide variant	NM_000285.4(PEPD):c.1313A>G (p.Glu438Gly)	not provided [RCV001911961]	uncertain significance	19	33387921	33387921	Human		name
151800222	CV1480048	single nucleotide variant	NM_000285.4(PEPD):c.1003C>T (p.Arg335Cys)	not provided [RCV001898995]	uncertain significance	19	33391444	33391444	Human		name
151727324	CV1488461	single nucleotide variant	NM_000285.4(PEPD):c.1312G>A (p.Glu438Lys)	not provided [RCV001966755]	uncertain significance	19	33387922	33387922	Human		name
151722385	CV1489753	single nucleotide variant	NM_000285.4(PEPD):c.1363G>A (p.Val455Ile)	Inborn genetic diseases [RCV002553596]\|not provided [RCV001891290]	uncertain significance	19	33387463	33387463	Human	1	name
151787085	CV1513730	single nucleotide variant	NM_000285.4(PEPD):c.1454C>A (p.Ala485Asp)	Inborn genetic diseases [RCV002557637]\|not provided [RCV001916438]	conflicting interpretations of pathogenicity\|uncertain significance	19	33387372	33387372	Human	1	name
8594895	CV15252	single nucleotide variant	NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg)	Prolidase deficiency [RCV000000237]\|not provided [RCV002512598]	pathogenic\|likely pathogenic	19	33387892	33387892	Human	1	name
8594897	CV15255	single nucleotide variant	NM_000285.4(PEPD):c.1234G>A (p.Glu412Lys)	Prolidase deficiency [RCV000000240]	pathogenic	19	33388000	33388000	Human	1	name
155727680	CV1773787	single nucleotide variant	NM_000285.4(PEPD):c.1310G>T (p.Arg437Leu)	not provided [RCV002301553]	uncertain significance	19	33387924	33387924	Human		name
156327672	CV1880976	single nucleotide variant	NM_000285.4(PEPD):c.1255G>A (p.Asp419Asn)	not provided [RCV003063502]	uncertain significance	19	33387979	33387979	Human		name
155985885	CV1883988	single nucleotide variant	NM_000285.4(PEPD):c.1402G>A (p.Val468Met)	Inborn genetic diseases [RCV004071928]\|not provided [RCV003075881]	uncertain significance	19	33387424	33387424	Human	1	name
156405652	CV1884527	single nucleotide variant	NM_000285.4(PEPD):c.1195A>G (p.Thr399Ala)	not provided [RCV003070090]	uncertain significance	19	33388039	33388039	Human		name
156400134	CV1892781	single nucleotide variant	NM_000285.4(PEPD):c.1359G>C (p.Glu453Asp)	not provided [RCV003069055]	uncertain significance	19	33387467	33387467	Human		name
155972314	CV1978521	single nucleotide variant	NM_000285.4(PEPD):c.1380C>A (p.Ser460Arg)	not provided [RCV002617237]	uncertain significance	19	33387446	33387446	Human		name
156248369	CV1988989	single nucleotide variant	NM_000285.4(PEPD):c.1291C>A (p.Arg431Ser)	not provided [RCV002627368]	uncertain significance	19	33387943	33387943	Human		name
155948450	CV2058547	single nucleotide variant	NM_000285.4(PEPD):c.1111T>A (p.Phe371Ile)	not provided [RCV002816126]	uncertain significance	19	33391336	33391336	Human		name
10408024	CV206589	single nucleotide variant	NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg)	Prolidase deficiency [RCV000194259]\|not provided [RCV003556241]	pathogenic\|likely pathogenic\|not provided	19	33391344	33391344	Human	1	name
156316442	CV2071053	single nucleotide variant	NM_000285.4(PEPD):c.1006A>G (p.Ile336Val)	not provided [RCV002834429]	uncertain significance	19	33391441	33391441	Human		name
156314442	CV2107835	single nucleotide variant	NM_000285.4(PEPD):c.1231G>A (p.Val411Met)	Inborn genetic diseases [RCV002937361]\|not provided [RCV002937360]	uncertain significance	19	33388003	33388003	Human	1	name
156133143	CV2113127	single nucleotide variant	NM_000285.4(PEPD):c.1366G>A (p.Val456Met)	not provided [RCV002928278]	uncertain significance	19	33387460	33387460	Human		name
156159333	CV2118564	single nucleotide variant	NM_000285.4(PEPD):c.1036A>G (p.Ile346Val)	not provided [RCV002929184]	uncertain significance	19	33391411	33391411	Human		name
156393793	CV2120617	single nucleotide variant	NM_000285.4(PEPD):c.1451A>C (p.Lys484Thr)	not provided [RCV002944198]	uncertain significance	19	33387375	33387375	Human		name
156272276	CV2136611	single nucleotide variant	NM_000285.4(PEPD):c.1159G>A (p.Glu387Lys)	Inborn genetic diseases [RCV003009309]\|not provided [RCV003009310]	uncertain significance	19	33388075	33388075	Human	1	name
155994195	CV2171450	single nucleotide variant	NM_000285.4(PEPD):c.1108C>G (p.His370Asp)	not provided [RCV003034469]	uncertain significance	19	33391339	33391339	Human		name
156381659	CV2215118	single nucleotide variant	NM_000285.4(PEPD):c.1238C>T (p.Pro413Leu)	Inborn genetic diseases [RCV002722622]	uncertain significance	19	33387996	33387996	Human	1	name
156152872	CV2367164	single nucleotide variant	NM_000285.4(PEPD):c.1051G>A (p.Val351Met)	Inborn genetic diseases [RCV002641970]	uncertain significance	19	33391396	33391396	Human	1	name
401767193	CV2718276	single nucleotide variant	NM_000285.4(PEPD):c.1243A>T (p.Ile415Phe)	Inborn genetic diseases [RCV003282785]	uncertain significance	19	33387991	33387991	Human	1	name
401876218	CV2777710	single nucleotide variant	NM_000285.4(PEPD):c.1016A>C (p.Glu339Ala)	Inborn genetic diseases [RCV003347971]	uncertain significance	19	33391431	33391431	Human	1	name
401961108	CV2844512	single nucleotide variant	NM_000285.4(PEPD):c.1433G>A (p.Cys478Tyr)	not provided [RCV003480307]	uncertain significance	19	33387393	33387393	Human		name
405207986	CV3064579	single nucleotide variant	NM_000285.4(PEPD):c.1237C>T (p.Pro413Ser)	not provided [RCV003731514]	uncertain significance	19	33387997	33387997	Human		name
11615323	CV333102	single nucleotide variant	NM_000285.4(PEPD):c.1163G>A (p.Arg388His)	Prolidase deficiency [RCV000284801]\|not provided [RCV000514422]	benign\|likely benign	19	33388071	33388071	Human	1	name
405790591	CV3368374	single nucleotide variant	NM_000285.4(PEPD):c.1011C>G (p.His337Gln)	Inborn genetic diseases [RCV004505794]	uncertain significance	19	33391436	33391436	Human	1	name
405790594	CV3368375	single nucleotide variant	NM_000285.4(PEPD):c.1214C>T (p.Pro405Leu)	Inborn genetic diseases [RCV004505795]	uncertain significance	19	33388020	33388020	Human	1	name
405790599	CV3368376	single nucleotide variant	NM_000285.4(PEPD):c.1244T>G (p.Ile415Ser)	Inborn genetic diseases [RCV004505796]	uncertain significance	19	33387990	33387990	Human	1	name
405790602	CV3368377	single nucleotide variant	NM_000285.4(PEPD):c.1420G>A (p.Glu474Lys)	Inborn genetic diseases [RCV004505797]	uncertain significance	19	33387406	33387406	Human	1	name
11614411	CV343215	single nucleotide variant	NM_000285.4(PEPD):c.1309C>T (p.Arg437Cys)	Prolidase deficiency [RCV000276860]\|not provided [RCV001850750]	uncertain significance	19	33387925	33387925	Human	1	name
11624106	CV343216	single nucleotide variant	NM_000285.4(PEPD):c.1292G>A (p.Arg431His)	Prolidase deficiency [RCV000382064]\|not provided [RCV001850751]	uncertain significance	19	33387942	33387942	Human	1	name
11617099	CV343225	single nucleotide variant	NM_000285.4(PEPD):c.1045G>A (p.Gly349Ser)	Inborn genetic diseases [RCV002521206]\|Prolidase deficiency [RCV000300960]\|not provided [RCV001850752]	likely benign\|uncertain significance	19	33391402	33391402	Human	2	name
11629712	CV348567	single nucleotide variant	NM_000285.4(PEPD):c.1303C>T (p.Leu435Phe)	Prolidase deficiency [RCV000331961]\|not provided [RCV001512813]\|not specified [RCV000440891]	benign	19	33387931	33387931	Human	1	name
11657228	CV348569	single nucleotide variant	NM_000285.4(PEPD):c.1156G>A (p.Val386Met)	Prolidase deficiency [RCV000339838]\|not provided [RCV001859937]	uncertain significance	19	33388078	33388078	Human	1	name
11632081	CV349644	single nucleotide variant	NM_000285.4(PEPD):c.1385T>C (p.Ile462Thr)	Prolidase deficiency [RCV000397948]\|not provided [RCV002057492]	benign\|likely benign\|uncertain significance	19	33387441	33387441	Human	1	name
11626742	CV349649	single nucleotide variant	NM_000285.4(PEPD):c.1291C>T (p.Arg431Cys)	Prolidase deficiency [RCV000268810]\|not provided [RCV002521203]	uncertain significance	19	33387943	33387943	Human	1	name
11662125	CV349652	single nucleotide variant	NM_000285.4(PEPD):c.1171G>A (p.Glu391Lys)	Prolidase deficiency [RCV000383203]	uncertain significance	19	33388063	33388063	Human	1	name
11632286	CV349653	single nucleotide variant	NM_000285.4(PEPD):c.1094C>T (p.Pro365Leu)	Inborn genetic diseases [RCV002521204]\|Prolidase deficiency [RCV000403163]\|not provided [RCV002521205]	uncertain significance	19	33391353	33391353	Human	2	name
597713529	CV3575595	single nucleotide variant	NM_000285.4(PEPD):c.1060A>G (p.Met354Val)	Inborn genetic diseases [RCV004959453]	uncertain significance	19	33391387	33391387	Human	1	name
597942313	CV3779886	single nucleotide variant	NM_000285.4(PEPD):c.1202G>T (p.Arg401Leu)	not provided [RCV005118895]	uncertain significance	19	33388032	33388032	Human		name
597867628	CV3838732	single nucleotide variant	NM_000285.4(PEPD):c.1333G>T (p.Gly445Cys)	not provided [RCV005176028]	uncertain significance	19	33387901	33387901	Human		name
597958899	CV3848576	single nucleotide variant	NM_000285.4(PEPD):c.1159G>T (p.Glu387Ter)	not provided [RCV005192277]	pathogenic	19	33388075	33388075	Human		name
597859808	CV3850234	single nucleotide variant	NM_000285.4(PEPD):c.1066C>T (p.Gln356Ter)	not provided [RCV005195567]	pathogenic	19	33391381	33391381	Human		name
598261531	CV3999588	single nucleotide variant	NM_000285.4(PEPD):c.1408C>T (p.Arg470Cys)	Inborn genetic diseases [RCV005386906]	uncertain significance	19	33387418	33387418	Human	1	name
15156687	CV716363	single nucleotide variant	NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)	PEPD-related disorder [RCV003905968]\|Prolidase deficiency [RCV001126609]\|not provided [RCV000969162]\|not specified [RCV001726400]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	33387940	33387940	Human	1	name , trait , alternate_id
15125114	CV716364	single nucleotide variant	NM_000285.4(PEPD):c.1256A>G (p.Asp419Gly)	Prolidase deficiency [RCV001126610]\|not provided [RCV000963527]	benign\|likely benign	19	33387978	33387978	Human	1	name
15120417	CV741770	single nucleotide variant	NM_000285.4(PEPD):c.1442G>T (p.Gly481Val)	not provided [RCV000895890]	likely benign	19	33387384	33387384	Human		name
15147249	CV741771	single nucleotide variant	NM_000285.4(PEPD):c.1325G>A (p.Arg442His)	Inborn genetic diseases [RCV004028505]\|not provided [RCV000900479]	likely benign\|uncertain significance	19	33387909	33387909	Human	1	name
28896469	CV880275	single nucleotide variant	NM_000285.4(PEPD):c.1414G>A (p.Val472Met)	Prolidase deficiency [RCV001122856]\|not provided [RCV001856622]	uncertain significance	19	33387412	33387412	Human	1	name
28899403	CV880277	single nucleotide variant	NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys)	Prolidase deficiency [RCV001123939]\|not provided [RCV001551593]	uncertain significance	19	33387910	33387910	Human	1	name
28905603	CV880278	single nucleotide variant	NM_000285.4(PEPD):c.1184G>A (p.Arg395Gln)	Prolidase deficiency [RCV001126611]\|not provided [RCV001856657]	likely benign\|uncertain significance	19	33388050	33388050	Human	1	name
28896821	CV880281	single nucleotide variant	NM_000285.4(PEPD):c.1079G>A (p.Gly360Glu)	Prolidase deficiency [RCV001122978]\|not provided [RCV001361818]	uncertain significance	19	33391368	33391368	Human	1	name
126755849	CV998503	single nucleotide variant	NM_000285.4(PEPD):c.1409G>A (p.Arg470His)	Inborn genetic diseases [RCV002543216]\|not provided [RCV001307961]	uncertain significance	19	33387417	33387417	Human	1	name
151734023	CV1392942	microsatellite	NM_000285.4(PEPD):c.207CTT[1] (p.Phe71del)	not provided [RCV001967401]	uncertain significance	19	33511145	33511147	Human		name
597923407	CV3772423	deletion	NM_000285.4(PEPD):c.162_163del (p.Gln55fs)	not provided [RCV005115573]	pathogenic	19	33512631	33512632	Human		name
402514814	CV2860443	deletion	NM_000285.4(PEPD):c.650_653del (p.Met217fs)	not provided [RCV003575400]	pathogenic	19	33463013	33463016	Human		name
405213877	CV2925013	deletion	NM_000285.4(PEPD):c.838_841del (p.Glu280fs)	not provided [RCV003567533]	pathogenic	19	33401847	33401850	Human		name
597840529	CV3756099	microsatellite	NM_000285.4(PEPD):c.425_426del (p.Ser142fs)	not provided [RCV005086371]	pathogenic	19	33493305	33493306	Human		name
8555507	CV15253	microsatellite	NM_000285.4(PEPD):c.1356GGA[1] (p.Glu453del)	Prolidase deficiency [RCV000000238]\|not provided [RCV001851506]	pathogenic\|uncertain significance	19	33387465	33387467	Human		name
11665457	CV333120	deletion	NM_000285.4(PEPD):c.692_694del (p.Tyr231del)	PEPD-related disorder [RCV004754394]\|Prolidase deficiency [RCV000273249]\|not provided [RCV000986209]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	19	33413621	33413623	Human	1	name , trait , alternate_id
155957011	CV1876855	microsatellite	NM_000285.4(PEPD):c.1086_1087del (p.Phe363fs)	not provided [RCV003074469]	pathogenic	19	33391360	33391361	Human		name
405204638	CV2912564	duplication	NM_000285.4(PEPD):c.1060_1094dup (p.His366fs)	not provided [RCV003566341]	pathogenic	19	33391352	33391353	Human		name
402496444	CV2942764	microsatellite	NM_000285.4(PEPD):c.1302_1305del (p.Phe434fs)	not provided [RCV003661126]	pathogenic	19	33387929	33387932	Human		name
405240361	CV3003515	insertion	NM_000285.4(PEPD):c.738_739insGT (p.Ser247fs)	not provided [RCV003719067]	pathogenic	19	33413576	33413577	Human		name
151712280	CV1386964	deletion	NM_000285.4(PEPD):c.1302_1304del (p.Leu435del)	not provided [RCV001964535]	uncertain significance	19	33387930	33387932	Human		name
8555506	CV15249	deletion	NM_000285.3(PEPD):c.691_693delTAC (p.Tyr231del)	Prolidase deficiency [RCV000000234]	pathogenic	19	33413622	33413624	Human		name
597660990	CV3709485	indel	NM_000285.4(PEPD):c.146_149delinsGGGGA (p.Gln49fs)	Prolidase deficiency [RCV005028471]	likely pathogenic	19	33512645	33512648	Human		name
8555505	CV15248	deletion	NM_000285.3(PEPD):c.1153_1344del (p.Gly385_Gly448del)	Prolidase deficiency [RCV000000233]	pathogenic	19	33387848	33388618	Human	1	name
405121746	CV3024644	insertion	NM_000285.4(PEPD):c.1305_1306insCTTT (p.Asn436delinsLeuTer)	not provided [RCV003700831]	pathogenic	19	33387928	33387929	Human		name
8555508	CV15256	duplication	NM_000285.4(PEPD):c.611_623dup (p.Glu208_Val209insGlyProProTer)	Prolidase deficiency [RCV000000241]\|not provided [RCV003555877]	pathogenic	19	33463987	33463988	Human	1	name
402488300	CV2861879	indel	NM_000285.4(PEPD):c.409_441+191delinsCATGCCGTGGGCCTTGACATGGGGCCCCAGCCTTTGCC	not provided [RCV003544698]	likely pathogenic	19	33493099	33493322	Human		name

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