C1galt1 Variant Search Result - Rat Genome Database

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115 records found for search term C1galt1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156147159	CV2289344	single nucleotide variant	NM_020156.5(C1GALT1):c.61C>A (p.Leu21Ile)	not specified [RCV004152314]	uncertain significance	7	7234380	7234380	Human		name
329395835	CV2462987	single nucleotide variant	NM_020156.5(C1GALT1):c.53T>C (p.Ile18Thr)	not specified [RCV004272819]	uncertain significance	7	7234372	7234372	Human		name
597750133	CV3643747	single nucleotide variant	NM_020156.5(C1GALT1):c.79T>C (p.Phe27Leu)	not specified [RCV004892498]	uncertain significance	7	7234398	7234398	Human		name
15188738	CV700193	single nucleotide variant	NM_020156.5(C1GALT1):c.727C>T (p.Leu243=)	not provided [RCV000953972]	likely benign	7	7238761	7238761	Human		name
155999257	CV2287251	single nucleotide variant	NM_020156.5(C1GALT1):c.119A>G (p.Asn40Ser)	not specified [RCV004146895]	uncertain significance	7	7234438	7234438	Human		name
407490261	CV3418083	single nucleotide variant	NM_020156.5(C1GALT1):c.176T>C (p.Leu59Pro)	not specified [RCV004604383]	uncertain significance	7	7234495	7234495	Human		name
597793061	CV3643753	single nucleotide variant	NM_020156.5(C1GALT1):c.204T>G (p.Asp68Glu)	not specified [RCV004902854]	uncertain significance	7	7234523	7234523	Human		name
15187999	CV722614	single nucleotide variant	NM_020156.5(C1GALT1):c.104T>G (p.Val35Gly)	not provided [RCV000887409]	benign	7	7234423	7234423	Human		name
156388511	CV2231866	single nucleotide variant	NM_020156.5(C1GALT1):c.328A>G (p.Thr110Ala)	not specified [RCV004098665]	uncertain significance	7	7238362	7238362	Human		name
156065327	CV2240287	single nucleotide variant	NM_020156.5(C1GALT1):c.515C>T (p.Thr172Met)	not specified [RCV004112847]	uncertain significance	7	7238549	7238549	Human		name
155978881	CV2247142	single nucleotide variant	NM_020156.5(C1GALT1):c.782T>C (p.Ile261Thr)	not specified [RCV004114672]	likely benign	7	7238816	7238816	Human		name
155964722	CV2261676	single nucleotide variant	NM_020156.5(C1GALT1):c.397G>A (p.Gly133Arg)	not specified [RCV004125988]	uncertain significance	7	7238431	7238431	Human		name
156241916	CV2283138	single nucleotide variant	NM_020156.5(C1GALT1):c.341G>T (p.Arg114Leu)	not specified [RCV004145825]	uncertain significance	7	7238375	7238375	Human		name
156169779	CV2296680	single nucleotide variant	NM_020156.5(C1GALT1):c.819C>G (p.His273Gln)	not specified [RCV004148596]	uncertain significance	7	7238853	7238853	Human		name
156090469	CV2302570	single nucleotide variant	NM_020156.5(C1GALT1):c.351A>C (p.Lys117Asn)	not specified [RCV004160738]	uncertain significance	7	7238385	7238385	Human		name
401748523	CV2704324	single nucleotide variant	NM_020156.5(C1GALT1):c.527T>C (p.Leu176Pro)	not specified [RCV004311305]	uncertain significance	7	7238561	7238561	Human		name
401778288	CV2708985	single nucleotide variant	NM_020156.5(C1GALT1):c.841C>T (p.Pro281Ser)	not specified [RCV004314345]	uncertain significance	7	7238875	7238875	Human		name
401870813	CV2766394	single nucleotide variant	NM_020156.5(C1GALT1):c.713T>C (p.Ile238Thr)	not specified [RCV004342638]	uncertain significance	7	7238747	7238747	Human		name
401876077	CV2789286	single nucleotide variant	NM_020156.5(C1GALT1):c.313A>C (p.Lys105Gln)	not specified [RCV004365314]	uncertain significance	7	7238347	7238347	Human		name
405732087	CV3294934	single nucleotide variant	NM_020156.5(C1GALT1):c.341G>A (p.Arg114His)	not specified [RCV004429479]	uncertain significance	7	7238375	7238375	Human		name
405732095	CV3294935	single nucleotide variant	NM_020156.5(C1GALT1):c.407C>G (p.Thr136Ser)	not specified [RCV004429480]	uncertain significance	7	7238441	7238441	Human		name
405732101	CV3294936	single nucleotide variant	NM_020156.5(C1GALT1):c.466G>C (p.Glu156Gln)	not specified [RCV004429481]	uncertain significance	7	7238500	7238500	Human		name
405732121	CV3294938	single nucleotide variant	NM_020156.5(C1GALT1):c.704G>A (p.Ser235Asn)	not specified [RCV004429483]	uncertain significance	7	7238738	7238738	Human		name
405732126	CV3294939	single nucleotide variant	NM_020156.5(C1GALT1):c.751A>G (p.Asn251Asp)	not specified [RCV004429484]	uncertain significance	7	7238785	7238785	Human		name
597793052	CV3643746	single nucleotide variant	NM_020156.5(C1GALT1):c.319G>A (p.Val107Ile)	not specified [RCV004902851]	uncertain significance	7	7238353	7238353	Human		name
597750138	CV3643748	single nucleotide variant	NM_020156.5(C1GALT1):c.964C>T (p.Leu322Phe)	not specified [RCV004892499]	uncertain significance	7	7243599	7243599	Human		name
597750144	CV3643749	single nucleotide variant	NM_020156.5(C1GALT1):c.880C>G (p.Pro294Ala)	not specified [RCV004892500]	uncertain significance	7	7238914	7238914	Human		name
597793055	CV3643750	single nucleotide variant	NM_020156.5(C1GALT1):c.598C>T (p.Pro200Ser)	not specified [RCV004902852]	uncertain significance	7	7238632	7238632	Human		name
597793058	CV3643751	single nucleotide variant	NM_020156.5(C1GALT1):c.485C>G (p.Ala162Gly)	not specified [RCV004902853]	uncertain significance	7	7238519	7238519	Human		name
598187585	CV3950001	single nucleotide variant	NM_020156.5(C1GALT1):c.559G>A (p.Asp187Asn)	not specified [RCV005312052]	likely benign	7	7238593	7238593	Human		name
598211467	CV3950002	single nucleotide variant	NM_020156.5(C1GALT1):c.872A>G (p.Tyr291Cys)	not specified [RCV005316018]	uncertain significance	7	7238906	7238906	Human		name
598187590	CV3950003	single nucleotide variant	NM_020156.5(C1GALT1):c.988G>A (p.Gly330Ser)	not specified [RCV005312053]	uncertain significance	7	7243623	7243623	Human		name
156173550	CV2377106	single nucleotide variant	NM_020156.5(C1GALT1):c.1025G>A (p.Arg342His)	not specified [RCV004229778]	uncertain significance	7	7243660	7243660	Human		name
401761565	CV2702393	single nucleotide variant	NM_020156.5(C1GALT1):c.1018C>G (p.Pro340Ala)	not specified [RCV004316916]	uncertain significance	7	7243653	7243653	Human		name
401863363	CV2776861	single nucleotide variant	NM_020156.5(C1GALT1):c.1069A>G (p.Lys357Glu)	not specified [RCV004351689]	uncertain significance	7	7243704	7243704	Human		name
597750150	CV3643752	single nucleotide variant	NM_020156.5(C1GALT1):c.1072G>C (p.Val358Leu)	not specified [RCV004892501]	uncertain significance	7	7243707	7243707	Human		name
156295761	CV2111644	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.666G>C (p.Gln222His)	C1GALT1C1-related disorder [RCV003943572]\|Polyagglutinable erythrocyte syndrome [RCV002922341]	likely benign	X	120626501	120626501	Human	1	name , trait , alternate_id
8561915	CV25831	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu)	C1GALT1C1-related disorder [RCV003974818]\|Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature [RCV005357109]\|Polyagglutinable erythrocyte syndrome [RCV000011539]\|not provided [RCV004713169]	pathogenic\|benign\|likely benign\|other	X	120626774	120626774	Human	2	name , trait , alternate_id
15182995	CV717622	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.302G>A (p.Ser101Asn)	C1GALT1C1-related disorder [RCV003906087]\|Polyagglutinable erythrocyte syndrome [RCV000974770]\|not provided [RCV004714168]	benign	X	120626865	120626865	Human	1	name , trait , alternate_id
597884088	CV3780535	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.87G>A (p.Arg29=)	Polyagglutinable erythrocyte syndrome [RCV005124663]	likely benign	X	120627080	120627080	Human	1	name
8570516	CV48173	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile)	Polyagglutinable erythrocyte syndrome [RCV000032774]	pathogenic\|other	X	120627164	120627164	Human	1	name
402468460	CV3029813	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.135A>G (p.Gln45=)	Polyagglutinable erythrocyte syndrome [RCV003623447]	likely benign	X	120627032	120627032	Human	1	name
597891940	CV3763072	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.198C>T (p.Ser66=)	Polyagglutinable erythrocyte syndrome [RCV005110845]	likely benign	X	120626969	120626969	Human	1	name
15109554	CV773731	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.216T>C (p.Ile72=)	Polyagglutinable erythrocyte syndrome [RCV001468060]	likely benign	X	120626951	120626951	Human	1	name
127241692	CV1086248	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.636G>A (p.Gly212=)	Polyagglutinable erythrocyte syndrome [RCV001393215]	likely benign	X	120626531	120626531	Human	1	name
152037302	CV1521936	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.894A>G (p.Ala298=)	Polyagglutinable erythrocyte syndrome [RCV002187724]	likely benign	X	120626273	120626273	Human	1	name
155268953	CV1666556	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.59C>A (p.Ala20Asp)	Abnormal protein O-linked glycosylation [RCV002286437]\|Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature [RCV003313265]	pathogenic\|likely pathogenic	X	120627108	120627108	Human	3	name
156173162	CV2133674	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.441G>A (p.Thr147=)	Polyagglutinable erythrocyte syndrome [RCV003005453]	likely benign	X	120626726	120626726	Human	1	name
156047594	CV2390951	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.17G>A (p.Gly6Glu)	not specified [RCV004234960]	uncertain significance	2	43676306	43676306	Human		name
597951791	CV3815433	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.462A>G (p.Leu154=)	Polyagglutinable erythrocyte syndrome [RCV005161383]	likely benign	X	120626705	120626705	Human	1	name
597888839	CV3839499	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.744C>T (p.Thr248=)	Polyagglutinable erythrocyte syndrome [RCV005179391]	likely benign	X	120626423	120626423	Human	1	name
15103979	CV758245	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.70A>G (p.Met24Val)	Polyagglutinable erythrocyte syndrome [RCV003509628]	benign	X	120627097	120627097	Human	1	name
151802683	CV1364597	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.152A>G (p.Asp51Gly)	Polyagglutinable erythrocyte syndrome [RCV001991097]	uncertain significance	X	120627015	120627015	Human	1	name
156096134	CV2375295	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.30T>G (p.Phe10Leu)	not specified [RCV004232703]	uncertain significance	2	43676293	43676293	Human		name
156072769	CV2376857	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.61G>A (p.Val21Ile)	not specified [RCV004229560]	uncertain significance	2	43676262	43676262	Human		name
8561914	CV25830	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter)	Polyagglutinable erythrocyte syndrome [RCV000011538]	pathogenic\|other	X	120626965	120626965	Human	1	name
329951883	CV2671532	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)	Atypical hemolytic-uremic syndrome [RCV003236752]\|Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature [RCV003313325]	pathogenic	X	120626901	120626901	Human	2	name
405259663	CV3186368	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.193A>G (p.Lys65Glu)	not provided [RCV003884127]	uncertain significance	X	120626974	120626974	Human		name
405732153	CV3294942	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.37A>G (p.Met13Val)	not specified [RCV004429487]	uncertain significance	2	43676286	43676286	Human		name
597793063	CV3643754	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.179G>A (p.Arg60His)	not specified [RCV004902855]	uncertain significance	X	120626988	120626988	Human		name
597834901	CV3760860	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.105A>C (p.Arg35Ser)	Polyagglutinable erythrocyte syndrome [RCV005085411]	uncertain significance	X	120627062	120627062	Human	1	name
14735609	CV649659	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.139C>T (p.Pro47Ser)	Polyagglutinable erythrocyte syndrome [RCV000803239]	uncertain significance	X	120627028	120627028	Human	1	name
38471845	CV939417	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.178C>T (p.Arg60Cys)	Polyagglutinable erythrocyte syndrome [RCV001202953]\|not specified [RCV004887666]	uncertain significance	X	120626989	120626989	Human	1	name
151871610	CV1477129	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.317A>G (p.Lys106Arg)	Polyagglutinable erythrocyte syndrome [RCV001906559]	uncertain significance	X	120626850	120626850	Human	1	name
156305164	CV2105206	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.606T>A (p.Asn202Lys)	Polyagglutinable erythrocyte syndrome [RCV002922782]\|not specified [RCV004067012]	uncertain significance	X	120626561	120626561	Human	1	name
156138884	CV2202855	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.597C>G (p.Ser199Arg)	not specified [RCV004069133]	uncertain significance	X	120626570	120626570	Human		name
156399520	CV2205167	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.278A>G (p.Lys93Arg)	not specified [RCV004077762]	uncertain significance	2	43676045	43676045	Human		name
155981646	CV2272882	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.391G>A (p.Asp131Asn)	not specified [RCV004135782]	uncertain significance	X	120626776	120626776	Human		name
8561916	CV25832	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.454G>A (p.Glu152Lys)	Polyagglutinable erythrocyte syndrome [RCV000011540]	pathogenic\|other	X	120626713	120626713	Human	1	name
401781009	CV2681859	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.151A>C (p.Asn51His)	not specified [RCV004296853]	uncertain significance	2	43676172	43676172	Human		name
401761432	CV2702334	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.513C>A (p.His171Gln)	not specified [RCV004316864]	uncertain significance	X	120626654	120626654	Human		name
401780057	CV2725848	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.763A>G (p.Ile255Val)	not specified [RCV004316309]	uncertain significance	X	120626404	120626404	Human		name
401890578	CV2768316	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.515C>G (p.Thr172Ser)	not specified [RCV004350297]	uncertain significance	X	120626652	120626652	Human		name
401887158	CV2775675	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.755G>A (p.Gly252Glu)	not specified [RCV004350812]	uncertain significance	X	120626412	120626412	Human		name
401885703	CV2783357	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.121G>C (p.Glu41Gln)	not specified [RCV004365716]	uncertain significance	2	43676202	43676202	Human		name
402510282	CV2863857	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.430C>T (p.Arg144Cys)	Polyagglutinable erythrocyte syndrome [RCV003509866]	uncertain significance	X	120626737	120626737	Human	1	name
402514925	CV2929049	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.440C>T (p.Thr147Met)	Polyagglutinable erythrocyte syndrome [RCV003510298]	likely benign	X	120626727	120626727	Human	1	name
405181670	CV3119983	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.338T>C (p.Met113Thr)	Polyagglutinable erythrocyte syndrome [RCV003820076]	uncertain significance	X	120626829	120626829	Human	1	name
407490652	CV3418084	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.950A>G (p.Asn317Ser)	not specified [RCV004604384]	uncertain significance	X	120626217	120626217	Human		name
407477066	CV3418087	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.103G>A (p.Gly35Ser)	not specified [RCV004604387]	uncertain significance	2	43676220	43676220	Human		name
596926195	CV3536154	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.553G>A (p.Gly185Arg)	Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature [RCV004788584]	uncertain significance	X	120626614	120626614	Human	1	name
597793066	CV3643755	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.448A>G (p.Ile150Val)	not specified [RCV004902856]	uncertain significance	X	120626719	120626719	Human		name
597793069	CV3643756	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.749C>T (p.Ser250Phe)	not specified [RCV004902857]	uncertain significance	X	120626418	120626418	Human		name
597793072	CV3643757	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.137G>C (p.Arg46Pro)	not specified [RCV004902858]	uncertain significance	2	43676186	43676186	Human		name
597793078	CV3643759	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.253G>C (p.Ala85Pro)	not specified [RCV004902860]	uncertain significance	2	43676070	43676070	Human		name
13499870	CV470465	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val)	Polyagglutinable erythrocyte syndrome [RCV000534640]\|not provided [RCV004714045]	benign	X	120626739	120626739	Human	2	name
13499870	CV470465	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.428C>T (p.Ala143Val)	Polyagglutinable erythrocyte syndrome [RCV000534640]\|not provided [RCV004714045]	benign	X	120626739	120626740	Human	2	name
8570515	CV48172	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro)	Polyagglutinable erythrocyte syndrome [RCV000032773]	pathogenic\|other	X	120626590	120626590	Human	1	name
26912220	CV849585	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.940G>C (p.Gly314Arg)	Polyagglutinable erythrocyte syndrome [RCV001053310]\|not specified [RCV004031681]	uncertain significance	X	120626227	120626227	Human	1	name
28878074	CV861669	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.540T>G (p.Tyr180Ter)	Polyagglutinable erythrocyte syndrome [RCV001095792]	pathogenic	X	120626627	120626627	Human	1	name
38471849	CV939416	single nucleotide variant	NM_001011551.3(C1GALT1C1):c.662A>G (p.Lys221Arg)	Polyagglutinable erythrocyte syndrome [RCV001202954]	uncertain significance	X	120626505	120626505	Human	1	name
156207707	CV2250061	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.436T>A (p.Phe146Ile)	not specified [RCV004116888]	uncertain significance	2	43675887	43675887	Human		name
156357116	CV2253834	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.535G>A (p.Val179Met)	not specified [RCV004127528]	uncertain significance	2	43675788	43675788	Human		name
155946324	CV2266058	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.874C>T (p.Arg292Trp)	not specified [RCV004126871]	uncertain significance	2	43675449	43675449	Human		name
156170901	CV2277047	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.348G>C (p.Arg116Ser)	not specified [RCV004140367]	uncertain significance	2	43675975	43675975	Human		name
155927290	CV2285102	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.371A>C (p.Tyr124Ser)	not specified [RCV004145331]	uncertain significance	2	43675952	43675952	Human		name
156296792	CV2319171	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.733A>G (p.Thr245Ala)	not specified [RCV004178234]	uncertain significance	2	43675590	43675590	Human		name
156329709	CV2342445	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.748C>A (p.Gln250Lys)	not specified [RCV004194049]	uncertain significance	2	43675575	43675575	Human		name
156182436	CV2353156	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.745G>A (p.Ala249Thr)	not specified [RCV004203629]	uncertain significance	2	43675578	43675578	Human		name
405732134	CV3294940	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.323T>C (p.Leu108Ser)	not specified [RCV004429485]	uncertain significance	2	43676000	43676000	Human		name
405732141	CV3294941	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.357G>C (p.Gln119His)	not specified [RCV004429486]	uncertain significance	2	43675966	43675966	Human		name
405732160	CV3294943	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.418C>T (p.Leu140Phe)	not specified [RCV004429488]	uncertain significance	2	43675905	43675905	Human		name
405732168	CV3294944	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.425T>G (p.Leu142Arg)	not specified [RCV004429489]	uncertain significance	2	43675898	43675898	Human		name
405732181	CV3294946	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.446T>C (p.Ile149Thr)	not specified [RCV004429491]	uncertain significance	2	43675877	43675877	Human		name
405732190	CV3294947	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.452A>G (p.Asn151Ser)	not specified [RCV004429492]	uncertain significance	2	43675871	43675871	Human		name
405732197	CV3294948	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.529G>A (p.Glu177Lys)	not specified [RCV004429493]	uncertain significance	2	43675794	43675794	Human		name
405732204	CV3294949	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.739C>A (p.Pro247Thr)	not specified [RCV004429494]	uncertain significance	2	43675584	43675584	Human		name
405732212	CV3294950	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.865G>C (p.Gly289Arg)	not specified [RCV004429495]	uncertain significance	2	43675458	43675458	Human		name
405732219	CV3294951	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.908C>T (p.Thr303Ile)	not specified [RCV004429496]	uncertain significance	2	43675415	43675415	Human		name
407477055	CV3418085	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.399C>A (p.Asp133Glu)	not specified [RCV004604385]	uncertain significance	2	43675924	43675924	Human		name
407477061	CV3418086	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.326T>C (p.Phe109Ser)	not specified [RCV004604386]	uncertain significance	2	43675997	43675997	Human		name
407477071	CV3418088	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.554T>C (p.Ile185Thr)	not specified [RCV004604388]	uncertain significance	2	43675769	43675769	Human		name
407477076	CV3418089	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.496T>C (p.Tyr166His)	not specified [RCV004604389]	uncertain significance	2	43675827	43675827	Human		name
597793075	CV3643758	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.317A>G (p.Asp106Gly)	not specified [RCV004902859]	uncertain significance	2	43676006	43676006	Human		name
598187598	CV3950004	single nucleotide variant	NM_001101330.3(C1GALT1C1L):c.685G>C (p.Val229Leu)	not specified [RCV005312054]	uncertain significance	2	43675638	43675638	Human		name

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