Cth Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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119 records found for search term Cth

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8557107	CV17977	deletion	CTH, 1-BP DEL, 1220C	Cystathioninuria [RCV000003072]	pathogenic				Human	1	name
11592484	CV282967	single nucleotide variant	NM_001902.6(CTH):c.-3A>G	Cystathioninuria [RCV000338903]	uncertain significance	1	70411413	70411413	Human	2	name
11661244	CV283002	single nucleotide variant	NM_001902.6(CTH):c.*98G>A	Cystathioninuria [RCV000374504]	uncertain significance	1	70439225	70439225	Human	2	name
11585649	CV281174	single nucleotide variant	NM_001902.6(CTH):c.*260T>C	Cystathioninuria [RCV000282360]	uncertain significance	1	70439387	70439387	Human	2	name
11595697	CV281176	single nucleotide variant	NM_001902.6(CTH):c.*370C>T	Cystathioninuria [RCV000373267]	uncertain significance	1	70439497	70439497	Human	2	name
11585966	CV281186	single nucleotide variant	NM_001902.6(CTH):c.*523A>T	Cystathioninuria [RCV000284386]\|not provided [RCV004714795]	benign\|likely benign	1	70439650	70439650	Human	2	name
11658104	CV281188	single nucleotide variant	NM_001902.6(CTH):c.*527A>T	Cystathioninuria [RCV000346387]	uncertain significance	1	70439654	70439654	Human	2	name
11584552	CV281192	single nucleotide variant	NM_001902.6(CTH):c.*632G>A	Cystathioninuria [RCV000274532]	uncertain significance	1	70439759	70439759	Human	2	name
11596909	CV281772	single nucleotide variant	NM_001902.5(CTH):c.-151T>C	Cystathioninuria [RCV000387430]	uncertain significance	1	70411265	70411265	Human	2	name
11587156	CV281783	single nucleotide variant	NM_001902.6(CTH):c.-140A>T	Cystathioninuria [RCV000293248]\|not provided [RCV004710797]	likely benign	1	70411276	70411276	Human	2	name
11592839	CV281796	single nucleotide variant	NM_001902.6(CTH):c.*389T>C	Cystathioninuria [RCV000343042]	likely benign\|uncertain significance	1	70439516	70439516	Human	2	name
11652767	CV281803	single nucleotide variant	NM_001902.6(CTH):c.*545C>T	Cystathioninuria [RCV000306802]	uncertain significance	1	70439672	70439672	Human	2	name
11654301	CV283003	single nucleotide variant	NM_001902.6(CTH):c.*334T>A	Cystathioninuria [RCV000316280]	uncertain significance	1	70439461	70439461	Human	2	name
11586150	CV283030	single nucleotide variant	NM_001902.6(CTH):c.*371G>A	Cystathioninuria [RCV000285818]	uncertain significance	1	70439498	70439498	Human	2	name
11660079	CV283034	single nucleotide variant	NM_001902.6(CTH):c.*587G>A	Cystathioninuria [RCV000363795]	uncertain significance	1	70439714	70439714	Human	2	name
11597737	CV283036	single nucleotide variant	NM_001902.6(CTH):c.*592C>T	Cystathioninuria [RCV000397245]\|not provided [RCV004714797]	benign\|likely benign	1	70439719	70439719	Human	2	name
11590004	CV283048	single nucleotide variant	NM_001902.6(CTH):c.*630G>A	Cystathioninuria [RCV000314916]	uncertain significance	1	70439757	70439757	Human	2	name
11595097	CV283049	single nucleotide variant	NM_001902.6(CTH):c.*631C>T	Cystathioninuria [RCV000366810]	uncertain significance	1	70439758	70439758	Human	2	name
11597748	CV283276	single nucleotide variant	NM_001902.6(CTH):c.*544G>A	Cystathioninuria [RCV000397269]\|not provided [RCV004714796]	benign\|likely benign	1	70439671	70439671	Human	2	name
28888064	CV864801	single nucleotide variant	NM_001902.6(CTH):c.*217G>T	Cystathioninuria [RCV001098977]	uncertain significance	1	70439344	70439344	Human	2	name
28888069	CV864802	single nucleotide variant	NM_001902.6(CTH):c.*336A>G	Cystathioninuria [RCV001098978]	uncertain significance	1	70439463	70439463	Human	2	name
28892977	CV864803	single nucleotide variant	NM_001902.6(CTH):c.*411G>C	Cystathioninuria [RCV001100784]	uncertain significance	1	70439538	70439538	Human	2	name
28892980	CV864804	single nucleotide variant	NM_001902.6(CTH):c.*513T>A	Cystathioninuria [RCV001100785]	uncertain significance	1	70439640	70439640	Human	2	name
28892984	CV864805	single nucleotide variant	NM_001902.6(CTH):c.*522T>A	Cystathioninuria [RCV001100786]	uncertain significance	1	70439649	70439649	Human	2	name
28893612	CV864806	single nucleotide variant	NM_001902.6(CTH):c.*546G>A	Cystathioninuria [RCV001101044]	uncertain significance	1	70439673	70439673	Human	2	name
28893614	CV864807	single nucleotide variant	NM_001902.6(CTH):c.*588C>T	Cystathioninuria [RCV001101045]	uncertain significance	1	70439715	70439715	Human	2	name
28882889	CV864808	single nucleotide variant	NM_001902.6(CTH):c.*681G>A	Cystathioninuria [RCV001097316]	uncertain significance	1	70439808	70439808	Human	2	name
28882894	CV864809	single nucleotide variant	NM_001902.6(CTH):c.*693G>T	Cystathioninuria [RCV001097317]	uncertain significance	1	70439820	70439820	Human	2	name
11582098	CV281168	single nucleotide variant	NM_001902.6(CTH):c.589-3C>T	Cystathioninuria [RCV000398115]	uncertain significance	1	70429791	70429791	Human	2	name
11578394	CV282968	single nucleotide variant	NM_001902.6(CTH):c.346+7G>A	CTH-related disorder [RCV003967847]\|Cystathioninuria [RCV000280298]\|not provided [RCV000894293]	benign\|likely benign\|uncertain significance	1	70418039	70418039	Human	2	name , trait , alternate_id
14692979	CV620727	single nucleotide variant	NM_001902.6(CTH):c.1052+1G>A	Cystathioninuria [RCV000778254]	uncertain significance	1	70435178	70435178	Human	1	name
14692980	CV620728	single nucleotide variant	NM_001902.6(CTH):c.1052+1G>C	Cystathioninuria [RCV000778255]	uncertain significance	1	70435178	70435178	Human	1	name
28882560	CV865208	single nucleotide variant	NM_001902.6(CTH):c.647-15G>C	Cystathioninuria [RCV001097216]\|not provided [RCV004691348]	uncertain significance	1	70430302	70430302	Human	2	name
28882575	CV865209	single nucleotide variant	NM_001902.6(CTH):c.724+10A>G	Cystathioninuria [RCV001097219]	uncertain significance	1	70430404	70430404	Human	2	name
11634776	CV281792	microsatellite	NM_001902.6(CTH):c.1191+15TG[18]	Cystathioninuria [RCV000274203]	likely benign	1	70438840	70438841	Human		name
11580435	CV281795	microsatellite	NM_001902.6(CTH):c.1191+15TG[16]	Cystathioninuria [RCV000333319]\|not provided [RCV003727649]	likely benign	1	70438840	70438841	Human		name
11581432	CV283272	microsatellite	NM_001902.6(CTH):c.1191+15TG[17]	Cystathioninuria [RCV000369354]\|not provided [RCV003727650]	likely benign	1	70438840	70438841	Human		name
11664115	CV283273	insertion	NM_001902.6(CTH):c.522_523insTAA	Cystathioninuria [RCV000402599]	uncertain significance	1	70439649	70439650	Human	2	name
408367732	CV3514395	single nucleotide variant	NM_001902.6(CTH):c.138G>A (p.Thr46=)	CTH-related disorder [RCV004759186]	likely benign	1	70411553	70411553	Human		name , trait , alternate_id
28893422	CV864795	single nucleotide variant	NM_001902.6(CTH):c.15C>A (p.Asp5Glu)	Cystathioninuria [RCV001100958]\|Inborn genetic diseases [RCV002556036]	uncertain significance	1	70411430	70411430	Human	3	name
28893427	CV864796	single nucleotide variant	NM_001902.6(CTH):c.129G>A (p.Leu43=)	Cystathioninuria [RCV001100959]\|not provided [RCV004711518]	likely benign	1	70411544	70411544	Human	2	name
156239791	CV2285998	single nucleotide variant	NM_001902.6(CTH):c.37C>A (p.Pro13Thr)	Inborn genetic diseases [RCV002854170]	uncertain significance	1	70411452	70411452	Human	1	name
11579630	CV281785	single nucleotide variant	NM_001902.6(CTH):c.864G>A (p.Lys288=)	CTH-related disorder [RCV003949998]\|Cystathioninuria [RCV000308639]\|not provided [RCV000889281]	benign\|likely benign\|uncertain significance	1	70432222	70432222	Human	2	name , trait , alternate_id
11656696	CV283264	single nucleotide variant	NM_001902.6(CTH):c.381A>G (p.Glu127=)	Cystathioninuria [RCV000335352]	uncertain significance	1	70421600	70421600	Human	2	name
28882582	CV864800	single nucleotide variant	NM_001902.6(CTH):c.816C>T (p.Asn272=)	Cystathioninuria [RCV001097221]	uncertain significance	1	70432174	70432174	Human	2	name
8557108	CV17978	single nucleotide variant	NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	CTH-related disorder [RCV004758588]\|Cystathioninuria [RCV000003073]\|not provided [RCV000727631]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	70415987	70415987	Human	4	name , trait , alternate_id
8557108	CV17978	single nucleotide variant	NM_001902.6(CTH):c.200C>T (p.Thr67Ile)	CTH-related disorder [RCV004758588]\|Cystathioninuria [RCV000003073]\|not provided [RCV000727631]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	70415987	70415988	Human	4	name , trait , alternate_id
156141234	CV2212271	single nucleotide variant	NM_001902.6(CTH):c.269G>C (p.Gly90Ala)	Inborn genetic diseases [RCV002697061]	uncertain significance	1	70417955	70417955	Human	1	name
156356271	CV2320755	single nucleotide variant	NM_001902.6(CTH):c.289A>G (p.Ile97Val)	Inborn genetic diseases [RCV002940661]	uncertain significance	1	70417975	70417975	Human	1	name
329389010	CV2469696	single nucleotide variant	NM_001902.6(CTH):c.128T>C (p.Leu43Pro)	Inborn genetic diseases [RCV003216063]	uncertain significance	1	70411543	70411543	Human	1	name
597665271	CV3651526	single nucleotide variant	NM_001902.6(CTH):c.185G>C (p.Arg62Pro)	Inborn genetic diseases [RCV004979288]	uncertain significance	1	70415972	70415972	Human	1	name
126739941	CV1019422	deletion	NM_001902.6(CTH):c.1064del (p.Thr355fs)	Cystathioninuria [RCV001335877]	pathogenic	1	70438699	70438699	Human	2	name
8557109	CV17979	single nucleotide variant	NM_001902.6(CTH):c.718C>G (p.Gln240Glu)	Cystathioninuria [RCV000003074]	pathogenic	1	70430388	70430388	Human	2	name
156388764	CV2231985	single nucleotide variant	NM_001902.6(CTH):c.748A>G (p.Ile250Val)	Inborn genetic diseases [RCV002724200]	uncertain significance	1	70432106	70432106	Human	1	name
12907314	CV227217	single nucleotide variant	NM_001902.6(CTH):c.793C>T (p.Arg265Ter)	Cystathioninuria [RCV000490299]	likely pathogenic	1	70432151	70432151	Human	2	name
156287876	CV2288438	single nucleotide variant	NM_001902.6(CTH):c.311G>A (p.Gly104Glu)	Inborn genetic diseases [RCV002878638]	uncertain significance	1	70417997	70417997	Human	1	name
401778954	CV2701913	single nucleotide variant	NM_001902.6(CTH):c.500T>C (p.Ile167Thr)	Inborn genetic diseases [RCV003287326]	likely benign	1	70424328	70424328	Human	1	name
401724761	CV2714962	single nucleotide variant	NM_001902.6(CTH):c.473C>T (p.Thr158Ile)	Cystathioninuria [RCV005029967]\|Inborn genetic diseases [RCV003268728]	uncertain significance	1	70424301	70424301	Human	3	name
11582105	CV281164	single nucleotide variant	NM_001902.6(CTH):c.430G>C (p.Glu144Gln)	Cystathioninuria [RCV000398183]	uncertain significance	1	70421649	70421649	Human	2	name
11581272	CV281786	single nucleotide variant	NM_001902.6(CTH):c.995T>C (p.Leu332Pro)	Cystathioninuria [RCV000363452]	uncertain significance	1	70433945	70433945	Human	2	name
11579400	CV282998	single nucleotide variant	NM_001902.6(CTH):c.495G>T (p.Lys165Asn)	Cystathioninuria [RCV000302809]	uncertain significance	1	70424323	70424323	Human	2	name
11581146	CV283001	single nucleotide variant	NM_001902.6(CTH):c.541G>A (p.Asp181Asn)	Cystathioninuria [RCV000357640]\|Inborn genetic diseases [RCV003258745]	uncertain significance	1	70424369	70424369	Human	3	name
405698960	CV3246164	single nucleotide variant	NM_001902.6(CTH):c.381A>T (p.Glu127Asp)	Inborn genetic diseases [RCV004374900]	uncertain significance	1	70421600	70421600	Human	1	name
405698966	CV3246165	single nucleotide variant	NM_001902.6(CTH):c.673G>A (p.Val225Met)	Inborn genetic diseases [RCV004374901]	uncertain significance	1	70430343	70430343	Human	1	name
405698969	CV3246166	single nucleotide variant	NM_001902.6(CTH):c.700A>G (p.Asn234Asp)	Inborn genetic diseases [RCV004374902]	uncertain significance	1	70430370	70430370	Human	1	name
405698976	CV3246167	single nucleotide variant	NM_001902.6(CTH):c.841G>A (p.Glu281Lys)	Inborn genetic diseases [RCV004374903]	uncertain significance	1	70432199	70432199	Human	1	name
405698983	CV3246168	single nucleotide variant	NM_001902.6(CTH):c.901G>A (p.Glu301Lys)	Inborn genetic diseases [RCV004374904]	uncertain significance	1	70433851	70433851	Human	1	name
407472004	CV3426234	single nucleotide variant	NM_001902.6(CTH):c.760C>T (p.Leu254Phe)	Inborn genetic diseases [RCV004615842]	uncertain significance	1	70432118	70432118	Human	1	name
407472008	CV3426235	single nucleotide variant	NM_001902.6(CTH):c.746C>G (p.Pro249Arg)	Inborn genetic diseases [RCV004615843]	uncertain significance	1	70432104	70432104	Human	1	name
597665264	CV3651525	single nucleotide variant	NM_001902.6(CTH):c.512G>C (p.Gly171Ala)	Inborn genetic diseases [RCV004979287]	likely benign	1	70424340	70424340	Human	1	name
597665275	CV3651528	single nucleotide variant	NM_001902.6(CTH):c.316C>A (p.Gln106Lys)	Inborn genetic diseases [RCV004979289]	uncertain significance	1	70418002	70418002	Human	1	name
597665281	CV3651529	single nucleotide variant	NM_001902.6(CTH):c.733G>A (p.Ala245Thr)	Inborn genetic diseases [RCV004979290]	uncertain significance	1	70432091	70432091	Human	1	name
597665284	CV3651530	single nucleotide variant	NM_001902.6(CTH):c.870T>G (p.Ile290Met)	Inborn genetic diseases [RCV004979291]	uncertain significance	1	70432228	70432228	Human	1	name
597665289	CV3651531	single nucleotide variant	NM_001902.6(CTH):c.436G>C (p.Ala146Pro)	Inborn genetic diseases [RCV004979292]	uncertain significance	1	70421655	70421655	Human	1	name
597665303	CV3651533	single nucleotide variant	NM_001902.6(CTH):c.640A>G (p.Met214Val)	Inborn genetic diseases [RCV004979294]	uncertain significance	1	70429845	70429845	Human	1	name
597665308	CV3651534	single nucleotide variant	NM_001902.6(CTH):c.307G>T (p.Ala103Ser)	Inborn genetic diseases [RCV004979295]	uncertain significance	1	70417993	70417993	Human	1	name
597665314	CV3651535	single nucleotide variant	NM_001902.6(CTH):c.619A>G (p.Met207Val)	Inborn genetic diseases [RCV004979296]	uncertain significance	1	70429824	70429824	Human	1	name
597666945	CV3717286	single nucleotide variant	NM_001902.6(CTH):c.620T>C (p.Met207Thr)	Cystathioninuria [RCV005029174]	uncertain significance	1	70429825	70429825	Human	2	name
598220376	CV3959640	single nucleotide variant	NM_001902.6(CTH):c.834G>C (p.Gln278His)	Inborn genetic diseases [RCV005317540]	uncertain significance	1	70432192	70432192	Human	1	name
598220384	CV3959642	single nucleotide variant	NM_001902.6(CTH):c.755G>T (p.Cys252Phe)	Inborn genetic diseases [RCV005317542]	uncertain significance	1	70432113	70432113	Human	1	name
598220389	CV3959643	single nucleotide variant	NM_001902.6(CTH):c.320T>C (p.Ile107Thr)	Inborn genetic diseases [RCV005317543]	uncertain significance	1	70418006	70418006	Human	1	name
14692977	CV620013	single nucleotide variant	NM_001902.6(CTH):c.465G>A (p.Trp155Ter)	Cystathioninuria [RCV000778253]	uncertain significance	1	70424293	70424293	Human	1	name
28882565	CV864797	single nucleotide variant	NM_001902.6(CTH):c.685T>C (p.Cys229Arg)	Cystathioninuria [RCV001097217]\|not provided [RCV004691349]	uncertain significance	1	70430355	70430355	Human	2	name
28882568	CV864798	single nucleotide variant	NM_001902.6(CTH):c.710G>T (p.Arg237Leu)	Cystathioninuria [RCV001097218]	uncertain significance	1	70430380	70430380	Human	2	name
28882579	CV864799	single nucleotide variant	NM_001902.6(CTH):c.794G>T (p.Arg265Leu)	Cystathioninuria [RCV001097220]	uncertain significance	1	70432152	70432152	Human	2	name
8557110	CV17980	single nucleotide variant	NM_001902.6(CTH):c.1208G>T (p.Ser403Ile)	CTH-related disorder [RCV003974791]\|Cystathioninuria [RCV000331590]\|Homocysteine level elevated [RCV000003075]\|not provided [RCV004713165]	pathogenic\|association\|benign\|likely benign\|not provided	1	70439117	70439117	Human	3	name , trait , alternate_id
156341614	CV2268290	single nucleotide variant	NM_001902.6(CTH):c.1195C>G (p.Pro399Ala)	Inborn genetic diseases [RCV002836369]	uncertain significance	1	70439104	70439104	Human	1	name
11577859	CV281787	single nucleotide variant	NM_001902.6(CTH):c.1033G>A (p.Glu345Lys)	Cystathioninuria [RCV000268858]\|not provided [RCV004696902]	uncertain significance	1	70435158	70435158	Human	2	name
597665296	CV3651532	single nucleotide variant	NM_001902.6(CTH):c.1109G>A (p.Ser370Asn)	Inborn genetic diseases [RCV004979293]	uncertain significance	1	70438744	70438744	Human	1	name
8557106	CV17976	microsatellite	NM_001902.6(CTH):c.784_785del (p.Leu262fs)	Cystathioninuria [RCV000003071]	pathogenic	1	70432140	70432141	Human		name
42722871	CV985253	single nucleotide variant	NM_138455.4(CTHRC1):c.372+1G>T	Barrett esophagus [RCV001292860]	pathogenic	8	103375960	103375960	Human	1	name
156242029	CV2283151	single nucleotide variant	NM_138455.4(CTHRC1):c.4C>G (p.Arg2Gly)	not specified [RCV004145834]	uncertain significance	8	103371660	103371660	Human		name
401783101	CV2716129	single nucleotide variant	NM_138455.4(CTHRC1):c.5G>T (p.Arg2Leu)	not specified [RCV004323368]	uncertain significance	8	103371661	103371661	Human		name
597805501	CV3651537	single nucleotide variant	NM_138455.4(CTHRC1):c.16C>T (p.Pro6Ser)	not specified [RCV004908576]	uncertain significance	8	103371672	103371672	Human		name
401857500	CV2759300	single nucleotide variant	NM_138455.4(CTHRC1):c.61C>G (p.Leu21Val)	not specified [RCV004335887]	uncertain significance	8	103371717	103371717	Human		name
407472018	CV3426238	single nucleotide variant	NM_138455.4(CTHRC1):c.86G>C (p.Ser29Thr)	not specified [RCV004615846]	uncertain significance	8	103371742	103371742	Human		name
598220395	CV3959644	single nucleotide variant	NM_138455.4(CTHRC1):c.32A>G (p.Gln11Arg)	not specified [RCV005317544]	uncertain significance	8	103371688	103371688	Human		name
155978766	CV2215091	single nucleotide variant	NM_138455.4(CTHRC1):c.132G>C (p.Gln44His)	not specified [RCV004084858]	uncertain significance	8	103371788	103371788	Human		name
156189982	CV2255102	single nucleotide variant	NM_138455.4(CTHRC1):c.134G>A (p.Arg45Lys)	not specified [RCV004115732]	uncertain significance	8	103371790	103371790	Human		name
156020650	CV2264378	single nucleotide variant	NM_138455.4(CTHRC1):c.291C>G (p.Ser97Arg)	not specified [RCV004138282]	uncertain significance	8	103375878	103375878	Human		name
155904308	CV2298780	single nucleotide variant	NM_138455.4(CTHRC1):c.295G>A (p.Glu99Lys)	not specified [RCV004156337]	uncertain significance	8	103375882	103375882	Human		name
156296256	CV2310390	single nucleotide variant	NM_138455.4(CTHRC1):c.194G>A (p.Arg65Gln)	not specified [RCV004163433]	uncertain significance	8	103375781	103375781	Human		name
155976535	CV2342780	single nucleotide variant	NM_138455.4(CTHRC1):c.118G>A (p.Ala40Thr)	not specified [RCV004189823]	uncertain significance	8	103371774	103371774	Human		name
155991313	CV2384204	single nucleotide variant	NM_138455.4(CTHRC1):c.250G>A (p.Asp84Asn)	not specified [RCV004227599]	uncertain significance	8	103375837	103375837	Human		name
401743171	CV2684033	single nucleotide variant	NM_138455.4(CTHRC1):c.117G>C (p.Lys39Asn)	not specified [RCV004295637]	uncertain significance	8	103371773	103371773	Human		name
407472009	CV3426236	single nucleotide variant	NM_138455.4(CTHRC1):c.103A>G (p.Lys35Glu)	not specified [RCV004615844]	uncertain significance	8	103371759	103371759	Human		name
597805504	CV3651540	single nucleotide variant	NM_138455.4(CTHRC1):c.104A>G (p.Lys35Arg)	not specified [RCV004908579]	uncertain significance	8	103371760	103371760	Human		name
8568629	CV39805	single nucleotide variant	NM_138455.4(CTHRC1):c.131A>C (p.Gln44Pro)	BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA [RCV000023833]	pathogenic	8	103371787	103371787	Human	1	name
126913819	CV1037837	single nucleotide variant	NM_138455.4(CTHRC1):c.467G>A (p.Arg156His)	not provided [RCV001357723]	uncertain significance	8	103378121	103378121	Human		name
156229907	CV2199527	single nucleotide variant	NM_138455.4(CTHRC1):c.424A>C (p.Ser142Arg)	not specified [RCV004071079]	uncertain significance	8	103378078	103378078	Human		name
156191762	CV2325642	single nucleotide variant	NM_138455.4(CTHRC1):c.542G>A (p.Gly181Glu)	not specified [RCV004180053]	uncertain significance	8	103378196	103378196	Human		name
156079160	CV2351163	single nucleotide variant	NM_138455.4(CTHRC1):c.466C>T (p.Arg156Cys)	not specified [RCV004214017]	uncertain significance	8	103378120	103378120	Human		name
156160846	CV2398225	single nucleotide variant	NM_138455.4(CTHRC1):c.371C>T (p.Ala124Val)	not specified [RCV004235139]	uncertain significance	8	103375958	103375958	Human		name
329378022	CV2459077	single nucleotide variant	NM_138455.4(CTHRC1):c.425G>A (p.Ser142Asn)	not specified [RCV004272541]	uncertain significance	8	103378079	103378079	Human		name
405698987	CV3246169	single nucleotide variant	NM_138455.4(CTHRC1):c.577C>T (p.Arg193Cys)	not specified [RCV004374905]	uncertain significance	8	103378231	103378231	Human		name
407472013	CV3426237	single nucleotide variant	NM_138455.4(CTHRC1):c.639C>G (p.Ile213Met)	not specified [RCV004615845]	uncertain significance	8	103382507	103382507	Human		name
597805502	CV3651538	single nucleotide variant	NM_138455.4(CTHRC1):c.326G>T (p.Cys109Phe)	not specified [RCV004908577]	uncertain significance	8	103375913	103375913	Human		name
597805503	CV3651539	single nucleotide variant	NM_138455.4(CTHRC1):c.586T>C (p.Ser196Pro)	not specified [RCV004908578]	uncertain significance	8	103378240	103378240	Human		name
598220402	CV3959645	single nucleotide variant	NM_138455.4(CTHRC1):c.712A>G (p.Ile238Val)	not specified [RCV005317545]	uncertain significance	8	103382580	103382580	Human		name

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