Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51751479C>ACA384879975SCN8Ac.2256C>A (p.Asp752Glu)
c.103C>A
c.260C>A
n.2384C>A
c.2289C>A (p.Asp763Glu)
 dbSNP gnomAD v4
12g.51751479C=CA2036196262SCN8Ac.2256C= (p.Asp752=)
c.103C=
c.260C=
n.2384C=
c.2289C= (p.Asp763=)
12g.51751479C>GCA384879976SCN8Ac.2256C>G (p.Asp752Glu)
c.103C>G
c.260C>G
n.2384C>G
c.2289C>G (p.Asp763Glu)
12g.51751479C>TCA480061110SCN8Ac.2256C>T (p.Asp752=)
c.103C>T
c.260C>T
n.2384C>T
c.2289C>T (p.Asp763=)
12g.51751480C>ACA384879977SCN8Ac.2257C>A (p.Pro753Thr)
c.104C>A
c.261C>A
n.2385C>A
c.2290C>A (p.Pro764Thr)
12g.51751480C>GCA384879978SCN8Ac.2257C>G (p.Pro753Ala)
c.104C>G
c.261C>G
n.2385C>G
c.2290C>G (p.Pro764Ala)
 gnomAD v4
12g.51751480C>TCA384879979SCN8Ac.2257C>T (p.Pro753Ser)
c.104C>T
c.261C>T
n.2385C>T
c.2290C>T (p.Pro764Ser)
12g.51751481C>ACA384879980SCN8Ac.2258C>A (p.Pro753His)
c.105C>A
c.262C>A
n.2386C>A
c.2291C>A (p.Pro764His)
12g.51751481C>GCA384879982SCN8Ac.2258C>G (p.Pro753Arg)
c.105C>G
c.262C>G
n.2386C>G
c.2291C>G (p.Pro764Arg)
12g.51751481C>TCA384879981SCN8Ac.2258C>T (p.Pro753Leu)
c.105C>T
c.262C>T
n.2386C>T
c.2291C>T (p.Pro764Leu)
12g.51751482T>ACA480061111SCN8Ac.2259T>A (p.Pro753=)
c.106T>A
c.263T>A
n.2387T>A
c.2292T>A (p.Pro764=)
12g.51751482T>CCA480061112SCN8Ac.2259T>C (p.Pro753=)
c.106T>C
c.263T>C
n.2387T>C
c.2292T>C (p.Pro764=)
12g.51751482T>GCA480061113SCN8Ac.2259T>G (p.Pro753=)
c.106T>G
c.263T>G
n.2387T>G
c.2292T>G (p.Pro764=)
12g.51751483T>ACA384879983SCN8Ac.2260T>A (p.Phe754Ile)
c.107T>A
c.264T>A
n.2388T>A
c.2293T>A (p.Phe765Ile)
12g.51751483T>CCA384879984SCN8Ac.2260T>C (p.Phe754Leu)
c.107T>C
c.264T>C
n.2388T>C
c.2293T>C (p.Phe765Leu)
12g.51751483T>GCA384879985SCN8Ac.2260T>G (p.Phe754Val)
c.107T>G
c.264T>G
n.2388T>G
c.2293T>G (p.Phe765Val)
12g.51751484T>ACA384879986SCN8Ac.2261T>A (p.Phe754Tyr)
c.108T>A
c.265T>A
n.2389T>A
c.2294T>A (p.Phe765Tyr)
12g.51751484T>CCA384879987SCN8Ac.2261T>C (p.Phe754Ser)
c.108T>C
c.265T>C
n.2389T>C
c.2294T>C (p.Phe765Ser)
12g.51751484T>GCA384879988SCN8Ac.2261T>G (p.Phe754Cys)
c.108T>G
c.265T>G
n.2389T>G
c.2294T>G (p.Phe765Cys)
12g.51751485T>ACA384879989SCN8Ac.2262T>A (p.Phe754Leu)
c.109T>A
c.266T>A
n.2390T>A
c.2295T>A (p.Phe765Leu)
12g.51751485T>CCA480061114SCN8Ac.2262T>C (p.Phe754=)
c.109T>C
c.266T>C
n.2390T>C
c.2295T>C (p.Phe765=)
 dbSNP
12g.51751485T>GCA384879990SCN8Ac.2262T>G (p.Phe754Leu)
c.109T>G
c.266T>G
n.2390T>G
c.2295T>G (p.Phe765Leu)
12g.51751485T=CA2036196265SCN8Ac.2262T= (p.Phe754=)
c.109T=
c.266T=
n.2390T=
c.2295T= (p.Phe765=)
12g.51751486G>ACA384879991SCN8Ac.2263G>A (p.Val755Met)
c.110G>A
c.267G>A
n.2391G>A
c.2296G>A (p.Val766Met)
12g.51751486G>CCA384879992SCN8Ac.2263G>C (p.Val755Leu)
c.110G>C
c.267G>C
n.2391G>C
c.2296G>C (p.Val766Leu)
 ClinVar dbSNP
12g.51751486G>TCA384879993SCN8Ac.2263G>T (p.Val755Leu)
c.110G>T
c.267G>T
n.2391G>T
c.2296G>T (p.Val766Leu)
12g.51751487T>ACA384879995SCN8Ac.2264T>A (p.Val755Glu)
c.111T>A
c.268T>A
n.2392T>A
c.2297T>A (p.Val766Glu)
12g.51751487T>CCA384879996SCN8Ac.2264T>C (p.Val755Ala)
c.111T>C
c.268T>C
n.2392T>C
c.2297T>C (p.Val766Ala)
12g.51751487T>GCA384879994SCN8Ac.2264T>G (p.Val755Gly)
c.111T>G
c.268T>G
n.2392T>G
c.2297T>G (p.Val766Gly)
 gnomAD v4
12g.51751488G>ACA480061116SCN8Ac.2265G>A (p.Val755=)
c.112G>A
c.269G>A
n.2393G>A
c.2298G>A (p.Val766=)
12g.51751488G>CCA480061117SCN8Ac.2265G>C (p.Val755=)
c.112G>C
c.269G>C
n.2393G>C
c.2298G>C (p.Val766=)
 ClinVar dbSNP gnomAD v4
12g.51751488G=CA2036196269SCN8Ac.2265G= (p.Val755=)
c.112G=
c.269G=
n.2393G=
c.2298G= (p.Val766=)
12g.51751488G>TCA480061118SCN8Ac.2265G>T (p.Val755=)
c.112G>T
c.269G>T
n.2393G>T
c.2298G>T (p.Val766=)
12g.51751489G>ACA384879997SCN8Ac.2266G>A (p.Asp756Asn)
c.113G>A
c.270G>A
n.2394G>A
c.2299G>A (p.Asp767Asn)
 ClinVar
12g.51751489G>CCA384879998SCN8Ac.2266G>C (p.Asp756His)
c.113G>C
c.270G>C
n.2394G>C
c.2299G>C (p.Asp767His)
12g.51751489G>TCA384879999SCN8Ac.2266G>T (p.Asp756Tyr)
c.113G>T
c.270G>T
n.2394G>T
c.2299G>T (p.Asp767Tyr)
12g.51751490A>CCA384880000SCN8Ac.2267A>C (p.Asp756Ala)
c.114A>C
c.271A>C
n.2395A>C
c.2300A>C (p.Asp767Ala)
12g.51751490A>GCA384880001SCN8Ac.2267A>G (p.Asp756Gly)
c.114A>G
c.271A>G
n.2395A>G
c.2300A>G (p.Asp767Gly)
12g.51751490A>TCA384880002SCN8Ac.2267A>T (p.Asp756Val)
c.114A>T
c.271A>T
n.2395A>T
c.2300A>T (p.Asp767Val)
12g.51751491T>ACA384880003SCN8Ac.2268T>A (p.Asp756Glu)
c.115T>A
c.272T>A
n.2396T>A
c.2301T>A (p.Asp767Glu)
12g.51751491T>CCA480061122SCN8Ac.2268T>C (p.Asp756=)
c.115T>C
c.272T>C
n.2396T>C
c.2301T>C (p.Asp767=)
 gnomAD v3 gnomAD v4
12g.51751491T>GCA384880004SCN8Ac.2268T>G (p.Asp756Glu)
c.115T>G
c.272T>G
n.2396T>G
c.2301T>G (p.Asp767Glu)
12g.51751492T>ACA384880005SCN8Ac.2269T>A (p.Leu757Ile)
c.116T>A
c.273T>A
n.2397T>A
c.2302T>A (p.Leu768Ile)
12g.51751492T>CCA480061123SCN8Ac.2269T>C (p.Leu757=)
c.116T>C
c.273T>C
n.2397T>C
c.2302T>C (p.Leu768=)
12g.51751492T>GCA384880006SCN8Ac.2269T>G (p.Leu757Val)
c.116T>G
c.273T>G
n.2397T>G
c.2302T>G (p.Leu768Val)
12g.51751493T>ACA384880007SCN8Ac.2270T>A (p.Leu757Ter)
c.117T>A
c.274T>A
n.2398T>A
c.2303T>A (p.Leu768Ter)
12g.51751493T>CCA384880008SCN8Ac.2270T>C (p.Leu757Ser)
c.117T>C
c.274T>C
n.2398T>C
c.2303T>C (p.Leu768Ser)
12g.51751493T>GCA384880009SCN8Ac.2270T>G (p.Leu757Ter)
c.117T>G
c.274T>G
n.2398T>G
c.2303T>G (p.Leu768Ter)
12g.51751494A>CCA384880011SCN8Ac.2271A>C (p.Leu757Phe)
c.118A>C
c.275A>C
n.2399A>C
c.2304A>C (p.Leu768Phe)
12g.51751494A>GCA480061126SCN8Ac.2271A>G (p.Leu757=)
c.118A>G
c.275A>G
n.2399A>G
c.2304A>G (p.Leu768=)
 gnomAD v3 gnomAD v4
12g.51751494A>TCA384880010SCN8Ac.2271A>T (p.Leu757Phe)
c.118A>T
c.275A>T
n.2399A>T
c.2304A>T (p.Leu768Phe)
12g.51751495G>ACA384880012SCN8Ac.2272G>A (p.Ala758Thr)
c.119G>A
c.276G>A
n.2400G>A
c.2305G>A (p.Ala769Thr)
12g.51751495G>CCA384880013SCN8Ac.2272G>C (p.Ala758Pro)
c.119G>C
c.276G>C
n.2400G>C
c.2305G>C (p.Ala769Pro)
12g.51751495G>TCA384880014SCN8Ac.2272G>T (p.Ala758Ser)
c.119G>T
c.276G>T
n.2400G>T
c.2305G>T (p.Ala769Ser)
 gnomAD v4
12g.51751496C>ACA384880015SCN8Ac.2273C>A (p.Ala758Asp)
c.120C>A
c.277C>A
n.2401C>A
c.2306C>A (p.Ala769Asp)
12g.51751496C>GCA384880016SCN8Ac.2273C>G (p.Ala758Gly)
c.120C>G
c.277C>G
n.2401C>G
c.2306C>G (p.Ala769Gly)
12g.51751496C>TCA384880017SCN8Ac.2273C>T (p.Ala758Val)
c.120C>T
c.277C>T
n.2401C>T
c.2306C>T (p.Ala769Val)
 COSMIC COSMIC
12g.51751497C>ACA480061127SCN8Ac.2274C>A (p.Ala758=)
c.121C>A
c.278C>A
n.2402C>A
c.2307C>A (p.Ala769=)
12g.51751497C=CA2036196271SCN8Ac.2274C= (p.Ala758=)
c.121C=
c.278C=
n.2402C=
c.2307C= (p.Ala769=)
12g.51751497C>GCA480061128SCN8Ac.2274C>G (p.Ala758=)
c.121C>G
c.278C>G
n.2402C>G
c.2307C>G (p.Ala769=)
12g.51751497C>TCA480061129SCN8Ac.2274C>T (p.Ala758=)
c.121C>T
c.278C>T
n.2402C>T
c.2307C>T (p.Ala769=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751498A=CA2036196273SCN8Ac.2275A= (p.Ile759=)
c.122A=
c.279A=
n.2403A=
c.2308A= (p.Ile770=)
12g.51751498A>CCA384880018SCN8Ac.2275A>C (p.Ile759Leu)
c.122A>C
c.279A>C
n.2403A>C
c.2308A>C (p.Ile770Leu)
12g.51751498A>GCA384880019SCN8Ac.2275A>G (p.Ile759Val)
c.122A>G
c.279A>G
n.2403A>G
c.2308A>G (p.Ile770Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751498A>TCA384880020SCN8Ac.2275A>T (p.Ile759Phe)
c.122A>T
c.279A>T
n.2403A>T
c.2308A>T (p.Ile770Phe)
12g.51751499T>ACA384880021SCN8Ac.2276T>A (p.Ile759Asn)
c.123T>A
c.280T>A
n.2404T>A
c.2309T>A (p.Ile770Asn)
12g.51751499T>CCA384880022SCN8Ac.2276T>C (p.Ile759Thr)
c.123T>C
c.280T>C
n.2404T>C
c.2309T>C (p.Ile770Thr)
12g.51751499T>GCA384880023SCN8Ac.2276T>G (p.Ile759Ser)
c.123T>G
c.280T>G
n.2404T>G
c.2309T>G (p.Ile770Ser)
12g.51751500C>ACA480061131SCN8Ac.2277C>A (p.Ile759=)
c.124C>A
c.281C>A
n.2405C>A
c.2310C>A (p.Ile770=)
12g.51751500C>GCA384880024SCN8Ac.2277C>G (p.Ile759Met)
c.124C>G
c.281C>G
n.2405C>G
c.2310C>G (p.Ile770Met)
12g.51751500C>TCA480061132SCN8Ac.2277C>T (p.Ile759=)
c.124C>T
c.281C>T
n.2405C>T
c.2310C>T (p.Ile770=)
12g.51751501A>CCA384880025SCN8Ac.2278A>C (p.Thr760Pro)
c.125A>C
c.282A>C
n.2406A>C
c.2311A>C (p.Thr771Pro)
12g.51751501A>GCA384880027SCN8Ac.2278A>G (p.Thr760Ala)
c.125A>G
c.282A>G
n.2406A>G
c.2311A>G (p.Thr771Ala)
12g.51751501A>TCA384880026SCN8Ac.2278A>T (p.Thr760Ser)
c.125A>T
c.282A>T
n.2406A>T
c.2311A>T (p.Thr771Ser)
12g.51751502C>ACA384880028SCN8Ac.2279C>A (p.Thr760Asn)
c.126C>A
c.283C>A
n.2407C>A
c.2312C>A (p.Thr771Asn)
12g.51751502C>GCA384880029SCN8Ac.2279C>G (p.Thr760Ser)
c.126C>G
c.283C>G
n.2407C>G
c.2312C>G (p.Thr771Ser)
12g.51751502C>TCA384880030SCN8Ac.2279C>T (p.Thr760Ile)
c.126C>T
c.283C>T
n.2407C>T
c.2312C>T (p.Thr771Ile)
12g.51751503C>ACA480061135SCN8Ac.2280C>A (p.Thr760=)
c.127C>A
c.284C>A
n.2408C>A
c.2313C>A (p.Thr771=)
12g.51751503C=CA2036196276SCN8Ac.2280C= (p.Thr760=)
c.127C=
c.284C=
n.2408C=
c.2313C= (p.Thr771=)
12g.51751503C>GCA480061136SCN8Ac.2280C>G (p.Thr760=)
c.127C>G
c.284C>G
n.2408C>G
c.2313C>G (p.Thr771=)
12g.51751503C>TCA6571453SCN8Ac.2280C>T (p.Thr760=)
c.127C>T
c.284C>T
n.2408C>T
c.2313C>T (p.Thr771=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751504A=CA2036196279SCN8Ac.2281A= (p.Ile761=)
c.128A=
c.285A=
n.2409A=
c.2314A= (p.Ile772=)
12g.51751504A>CCA384880031SCN8Ac.2281A>C (p.Ile761Leu)
c.128A>C
c.285A>C
n.2409A>C
c.2314A>C (p.Ile772Leu)
12g.51751504A>GCA6571454SCN8Ac.2281A>G (p.Ile761Val)
c.128A>G
c.285A>G
n.2409A>G
c.2314A>G (p.Ile772Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51751504A>TCA384880032SCN8Ac.2281A>T (p.Ile761Phe)
c.128A>T
c.285A>T
n.2409A>T
c.2314A>T (p.Ile772Phe)
12g.51751505T>ACA384880033SCN8Ac.2282T>A (p.Ile761Asn)
c.129T>A
c.286T>A
n.2410T>A
c.2315T>A (p.Ile772Asn)
12g.51751505T>CCA384880034SCN8Ac.2282T>C (p.Ile761Thr)
c.129T>C
c.286T>C
n.2410T>C
c.2315T>C (p.Ile772Thr)
12g.51751505T>GCA384880035SCN8Ac.2282T>G (p.Ile761Ser)
c.129T>G
c.286T>G
n.2410T>G
c.2315T>G (p.Ile772Ser)
12g.51751506C>ACA480061137SCN8Ac.2283C>A (p.Ile761=)
c.130C>A
c.287C>A
n.2411C>A
c.2316C>A (p.Ile772=)
12g.51751506C>GCA384880036SCN8Ac.2283C>G (p.Ile761Met)
c.130C>G
c.287C>G
n.2411C>G
c.2316C>G (p.Ile772Met)
12g.51751506C>TCA480061138SCN8Ac.2283C>T (p.Ile761=)
c.130C>T
c.287C>T
n.2411C>T
c.2316C>T (p.Ile772=)
12g.51751507T>ACA384880039SCN8Ac.2284T>A (p.Cys762Ser)
c.131T>A
c.288T>A
n.2412T>A
c.2317T>A (p.Cys773Ser)
12g.51751507T>CCA384880038SCN8Ac.2284T>C (p.Cys762Arg)
c.131T>C
c.288T>C
n.2412T>C
c.2317T>C (p.Cys773Arg)
12g.51751507T>GCA384880037SCN8Ac.2284T>G (p.Cys762Gly)
c.131T>G
c.288T>G
n.2412T>G
c.2317T>G (p.Cys773Gly)
12g.51751508G>ACA384880040SCN8Ac.2285G>A (p.Cys762Tyr)
c.132G>A
c.289G>A
n.2413G>A
c.2318G>A (p.Cys773Tyr)
12g.51751508G>CCA384880041SCN8Ac.2285G>C (p.Cys762Ser)
c.132G>C
c.289G>C
n.2413G>C
c.2318G>C (p.Cys773Ser)
12g.51751508G>TCA384880042SCN8Ac.2285G>T (p.Cys762Phe)
c.132G>T
c.289G>T
n.2413G>T
c.2318G>T (p.Cys773Phe)
12g.51751509C>ACA384880043SCN8Ac.2286C>A (p.Cys762Ter)
c.133C>A
c.290C>A
n.2414C>A
c.2319C>A (p.Cys773Ter)
 dbSNP
12g.51751509C=CA2036196280SCN8Ac.2286C= (p.Cys762=)
c.133C=
c.290C=
n.2414C=
c.2319C= (p.Cys773=)
12g.51751509C>GCA384880044SCN8Ac.2286C>G (p.Cys762Trp)
c.133C>G
c.290C>G
n.2414C>G
c.2319C>G (p.Cys773Trp)
12g.51751509C>TCA480061141SCN8Ac.2286C>T (p.Cys762=)
c.133C>T
c.290C>T
n.2414C>T
c.2319C>T (p.Cys773=)
 gnomAD v4
12g.51751510A=CA2036196286SCN8Ac.2287A= (p.Ile763=)
c.134A=
c.291A=
n.2415A=
c.2320A= (p.Ile774=)
12g.51751510A>CCA384880045SCN8Ac.2287A>C (p.Ile763Leu)
c.134A>C
c.291A>C
n.2415A>C
c.2320A>C (p.Ile774Leu)
12g.51751510A>GCA240328SCN8Ac.2287A>G (p.Ile763Val)
c.134A>G
c.291A>G
n.2415A>G
c.2320A>G (p.Ile774Val)
 ClinVar dbSNP
12g.51751510A>TCA384880046SCN8Ac.2287A>T (p.Ile763Phe)
c.134A>T
c.291A>T
n.2415A>T
c.2320A>T (p.Ile774Phe)
12g.51751511T>ACA384880047SCN8Ac.2288T>A (p.Ile763Asn)
c.135T>A
c.292T>A
n.2416T>A
c.2321T>A (p.Ile774Asn)
12g.51751511T>CCA384880048SCN8Ac.2288T>C (p.Ile763Thr)
c.135T>C
c.292T>C
n.2416T>C
c.2321T>C (p.Ile774Thr)
12g.51751511T>GCA384880049SCN8Ac.2288T>G (p.Ile763Ser)
c.135T>G
c.292T>G
n.2416T>G
c.2321T>G (p.Ile774Ser)
12g.51751512C>ACA480061145SCN8Ac.2289C>A (p.Ile763=)
c.136C>A
c.293C>A
n.2417C>A
c.2322C>A (p.Ile774=)
12g.51751512C=CA2036196293SCN8Ac.2289C= (p.Ile763=)
c.136C=
c.293C=
n.2417C=
c.2322C= (p.Ile774=)
12g.51751512C>GCA384880050SCN8Ac.2289C>G (p.Ile763Met)
c.136C>G
c.293C>G
n.2417C>G
c.2322C>G (p.Ile774Met)
 COSMIC COSMIC
12g.51751512C>TCA480061146SCN8Ac.2289C>T (p.Ile763=)
c.136C>T
c.293C>T
n.2417C>T
c.2322C>T (p.Ile774=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751513G>ACA384880052SCN8Ac.2290G>A (p.Val764Ile)
c.137G>A
c.294G>A
n.2418G>A
c.2323G>A (p.Val775Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51751513G>CCA384880053SCN8Ac.2290G>C (p.Val764Leu)
c.137G>C
c.294G>C
n.2418G>C
c.2323G>C (p.Val775Leu)
12g.51751513G=CA2036196297SCN8Ac.2290G= (p.Val764=)
c.137G=
c.294G=
n.2418G=
c.2323G= (p.Val775=)
12g.51751513G>TCA384880051SCN8Ac.2290G>T (p.Val764Phe)
c.137G>T
c.294G>T
n.2418G>T
c.2323G>T (p.Val775Phe)
12g.51751514T>ACA384880056SCN8Ac.2291T>A (p.Val764Asp)
c.138T>A
c.295T>A
n.2419T>A
c.2324T>A (p.Val775Asp)
12g.51751514T>CCA384880054SCN8Ac.2291T>C (p.Val764Ala)
c.138T>C
c.295T>C
n.2419T>C
c.2324T>C (p.Val775Ala)
 ClinVar
12g.51751514T>GCA384880055SCN8Ac.2291T>G (p.Val764Gly)
c.138T>G
c.295T>G
n.2419T>G
c.2324T>G (p.Val775Gly)
12g.51751515C>ACA480061148SCN8Ac.2292C>A (p.Val764=)
c.139C>A
c.296C>A
n.2420C>A
c.2325C>A (p.Val775=)
12g.51751515C=CA2036196302SCN8Ac.2292C= (p.Val764=)
c.139C=
c.296C=
n.2420C=
c.2325C= (p.Val775=)
12g.51751515C>GCA480061149SCN8Ac.2292C>G (p.Val764=)
c.139C>G
c.296C>G
n.2420C>G
c.2325C>G (p.Val775=)
12g.51751515C>TCA6571455SCN8Ac.2292C>T (p.Val764=)
c.139C>T
c.296C>T
n.2420C>T
c.2325C>T (p.Val775=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751516C>ACA384880057SCN8Ac.2293C>A (p.Leu765Met)
c.140C>A
c.297C>A
n.2421C>A
c.2326C>A (p.Leu776Met)
12g.51751516C>GCA384880058SCN8Ac.2293C>G (p.Leu765Val)
c.140C>G
c.297C>G
n.2421C>G
c.2326C>G (p.Leu776Val)
12g.51751516C>TCA480061150SCN8Ac.2293C>T (p.Leu765=)
c.140C>T
c.297C>T
n.2421C>T
c.2326C>T (p.Leu776=)
12g.51751517T>ACA384880059SCN8Ac.2294T>A (p.Leu765Gln)
c.141T>A
c.298T>A
n.2422T>A
c.2327T>A (p.Leu776Gln)
 gnomAD v4
12g.51751517T>CCA384880060SCN8Ac.2294T>C (p.Leu765Pro)
c.141T>C
c.298T>C
n.2422T>C
c.2327T>C (p.Leu776Pro)
12g.51751517T>GCA384880061SCN8Ac.2294T>G (p.Leu765Arg)
c.141T>G
c.298T>G
n.2422T>G
c.2327T>G (p.Leu776Arg)
12g.51751518G>ACA480061154SCN8Ac.2295G>A (p.Leu765=)
c.142G>A
c.299G>A
n.2423G>A
c.2328G>A (p.Leu776=)
12g.51751518G>CCA480061155SCN8Ac.2295G>C (p.Leu765=)
c.142G>C
c.299G>C
n.2423G>C
c.2328G>C (p.Leu776=)
12g.51751518G>TCA480061156SCN8Ac.2295G>T (p.Leu765=)
c.142G>T
c.299G>T
n.2423G>T
c.2328G>T (p.Leu776=)
12g.51751519A>CCA384880062SCN8Ac.2296A>C (p.Asn766His)
c.143A>C
c.300A>C
n.2424A>C
c.2329A>C (p.Asn777His)
12g.51751519A>GCA384880063SCN8Ac.2296A>G (p.Asn766Asp)
c.143A>G
c.300A>G
n.2424A>G
c.2329A>G (p.Asn777Asp)
12g.51751519A>TCA384880064SCN8Ac.2296A>T (p.Asn766Tyr)
c.143A>T
c.300A>T
n.2424A>T
c.2329A>T (p.Asn777Tyr)
12g.51751520A>CCA384880065SCN8Ac.2297A>C (p.Asn766Thr)
c.144A>C
c.301A>C
n.2425A>C
c.2330A>C (p.Asn777Thr)
12g.51751520A>GCA384880066SCN8Ac.2297A>G (p.Asn766Ser)
c.144A>G
c.301A>G
n.2425A>G
c.2330A>G (p.Asn777Ser)
12g.51751520A>TCA384880067SCN8Ac.2297A>T (p.Asn766Ile)
c.144A>T
c.301A>T
n.2425A>T
c.2330A>T (p.Asn777Ile)
12g.51751521T>ACA384880069SCN8Ac.2298T>A (p.Asn766Lys)
c.145T>A
c.302T>A
n.2426T>A
c.2331T>A (p.Asn777Lys)
12g.51751521T>CCA480061158SCN8Ac.2298T>C (p.Asn766=)
c.145T>C
c.302T>C
n.2426T>C
c.2331T>C (p.Asn777=)
12g.51751521T>GCA384880068SCN8Ac.2298T>G (p.Asn766Lys)
c.145T>G
c.302T>G
n.2426T>G
c.2331T>G (p.Asn777Lys)
12g.51751522A>CCA384880070SCN8Ac.2299A>C (p.Thr767Pro)
c.146A>C
c.303A>C
n.2427A>C
c.2332A>C (p.Thr778Pro)
12g.51751522A>GCA384880071SCN8Ac.2299A>G (p.Thr767Ala)
c.146A>G
c.303A>G
n.2427A>G
c.2332A>G (p.Thr778Ala)
12g.51751522A>TCA384880072SCN8Ac.2299A>T (p.Thr767Ser)
c.146A>T
c.303A>T
n.2427A>T
c.2332A>T (p.Thr778Ser)
12g.51751523C>ACA384880073SCN8Ac.2300C>A (p.Thr767Lys)
c.147C>A
c.304C>A
n.2428C>A
c.2333C>A (p.Thr778Lys)
12g.51751523C=CA2036196305SCN8Ac.2300C= (p.Thr767=)
c.147C=
c.304C=
n.2428C=
c.2333C= (p.Thr778=)
12g.51751523C>GCA384880074SCN8Ac.2300C>G (p.Thr767Arg)
c.147C>G
c.304C>G
n.2428C>G
c.2333C>G (p.Thr778Arg)
12g.51751523C>TCA204472SCN8Ac.2300C>T (p.Thr767Ile)
c.147C>T
c.304C>T
n.2428C>T
c.2333C>T (p.Thr778Ile)
 ClinVar dbSNP
12g.51751524A=CA2036196311SCN8Ac.2301A= (p.Thr767=)
c.148A=
c.305A=
n.2429A=
c.2334A= (p.Thr778=)
12g.51751524A>CCA480061160SCN8Ac.2301A>C (p.Thr767=)
c.148A>C
c.305A>C
n.2429A>C
c.2334A>C (p.Thr778=)
 ClinVar dbSNP
12g.51751524A>GCA480061161SCN8Ac.2301A>G (p.Thr767=)
c.148A>G
c.305A>G
n.2429A>G
c.2334A>G (p.Thr778=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51751524A>TCA480061162SCN8Ac.2301A>T (p.Thr767=)
c.148A>T
c.305A>T
n.2429A>T
c.2334A>T (p.Thr778=)
12g.51751525C>ACA384880076SCN8Ac.2302C>A (p.Leu768Met)
c.149C>A
c.306C>A
n.2430C>A
c.2335C>A (p.Leu779Met)
12g.51751525C=CA2036196313SCN8Ac.2302C= (p.Leu768=)
c.149C=
c.306C=
n.2430C=
c.2335C= (p.Leu779=)
12g.51751525C>GCA384880075SCN8Ac.2302C>G (p.Leu768Val)
c.149C>G
c.306C>G
n.2430C>G
c.2335C>G (p.Leu779Val)
12g.51751525C>TCA480061163SCN8Ac.2302C>T (p.Leu768=)
c.149C>T
c.306C>T
n.2430C>T
c.2335C>T (p.Leu779=)
 ClinVar dbSNP gnomAD v4
12g.51751526T>ACA384880077SCN8Ac.2303T>A (p.Leu768Gln)
c.150T>A
c.307T>A
n.2431T>A
c.2336T>A (p.Leu779Gln)
12g.51751526T>CCA384880078SCN8Ac.2303T>C (p.Leu768Pro)
c.150T>C
c.307T>C
n.2431T>C
c.2336T>C (p.Leu779Pro)
12g.51751526T>GCA384880079SCN8Ac.2303T>G (p.Leu768Arg)
c.150T>G
c.307T>G
n.2431T>G
c.2336T>G (p.Leu779Arg)
12g.51751527G>ACA480061164SCN8Ac.2304G>A (p.Leu768=)
c.151G>A
c.308G>A
n.2432G>A
c.2337G>A (p.Leu779=)
 gnomAD v4
12g.51751527G>CCA480061166SCN8Ac.2304G>C (p.Leu768=)
c.151G>C
c.308G>C
n.2432G>C
c.2337G>C (p.Leu779=)
12g.51751527G>TCA480061165SCN8Ac.2304G>T (p.Leu768=)
c.151G>T
c.308G>T
n.2432G>T
c.2337G>T (p.Leu779=)
12g.51751528T>ACA384880080SCN8Ac.2305T>A (p.Phe769Ile)
c.152T>A
c.309T>A
n.2433T>A
c.2338T>A (p.Phe780Ile)
12g.51751528T>CCA384880081SCN8Ac.2305T>C (p.Phe769Leu)
c.152T>C
c.309T>C
n.2433T>C
c.2338T>C (p.Phe780Leu)
12g.51751528T>GCA384880082SCN8Ac.2305T>G (p.Phe769Val)
c.152T>G
c.309T>G
n.2433T>G
c.2338T>G (p.Phe780Val)
12g.51751529T>ACA384880083SCN8Ac.2306T>A (p.Phe769Tyr)
c.153T>A
c.310T>A
n.2434T>A
c.2339T>A (p.Phe780Tyr)
12g.51751529T>CCA384880085SCN8Ac.2306T>C (p.Phe769Ser)
c.153T>C
c.310T>C
n.2434T>C
c.2339T>C (p.Phe780Ser)
12g.51751529T>GCA384880084SCN8Ac.2306T>G (p.Phe769Cys)
c.153T>G
c.310T>G
n.2434T>G
c.2339T>G (p.Phe780Cys)
12g.51751530T>ACA384880086SCN8Ac.2307T>A (p.Phe769Leu)
c.154T>A
c.311T>A
n.2435T>A
c.2340T>A (p.Phe780Leu)
12g.51751530T>CCA480061167SCN8Ac.2307T>C (p.Phe769=)
c.154T>C
c.311T>C
n.2435T>C
c.2340T>C (p.Phe780=)
 gnomAD v4
12g.51751530T>GCA384880087SCN8Ac.2307T>G (p.Phe769Leu)
c.154T>G
c.311T>G
n.2435T>G
c.2340T>G (p.Phe780Leu)
12g.51751531A>CCA384880088SCN8Ac.2308A>C (p.Met770Leu)
c.155A>C
c.312A>C
n.2436A>C
c.2341A>C (p.Met781Leu)
12g.51751531A>GCA384880089SCN8Ac.2308A>G (p.Met770Val)
c.155A>G
c.312A>G
n.2436A>G
c.2341A>G (p.Met781Val)
12g.51751531A>TCA384880090SCN8Ac.2308A>T (p.Met770Leu)
c.155A>T
c.312A>T
n.2436A>T
c.2341A>T (p.Met781Leu)
12g.51751532T>ACA384880091SCN8Ac.2309T>A (p.Met770Lys)
c.156T>A
c.313T>A
n.2437T>A
c.2342T>A (p.Met781Lys)
12g.51751532T>CCA384880092SCN8Ac.2309T>C (p.Met770Thr)
c.156T>C
c.313T>C
n.2437T>C
c.2342T>C (p.Met781Thr)
12g.51751532T>GCA384880093SCN8Ac.2309T>G (p.Met770Arg)
c.156T>G
c.313T>G
n.2437T>G
c.2342T>G (p.Met781Arg)
12g.51751533G>ACA384880094SCN8Ac.2310G>A (p.Met770Ile)
c.157G>A
c.314G>A
n.2438G>A
c.2343G>A (p.Met781Ile)
12g.51751533G>CCA384880095SCN8Ac.2310G>C (p.Met770Ile)
c.157G>C
c.314G>C
n.2438G>C
c.2343G>C (p.Met781Ile)
12g.51751533G>TCA384880096SCN8Ac.2310G>T (p.Met770Ile)
c.157G>T
c.314G>T
n.2438G>T
c.2343G>T (p.Met781Ile)
12g.51751534G>ACA384880099SCN8Ac.2311G>A (p.Ala771Thr)
c.158G>A
c.315G>A
n.2439G>A
c.2344G>A (p.Ala782Thr)
12g.51751534G>CCA384880098SCN8Ac.2311G>C (p.Ala771Pro)
c.158G>C
c.315G>C
n.2439G>C
c.2344G>C (p.Ala782Pro)
12g.51751534G>TCA384880097SCN8Ac.2311G>T (p.Ala771Ser)
c.158G>T
c.315G>T
n.2439G>T
c.2344G>T (p.Ala782Ser)
12g.51751535C>ACA384880100SCN8Ac.2312C>A (p.Ala771Glu)
c.159C>A
c.316C>A
n.2440C>A
c.2345C>A (p.Ala782Glu)
12g.51751535C>GCA384880101SCN8Ac.2312C>G (p.Ala771Gly)
c.159C>G
c.316C>G
n.2440C>G
c.2345C>G (p.Ala782Gly)
12g.51751535C>TCA384880102SCN8Ac.2312C>T (p.Ala771Val)
c.159C>T
c.316C>T
n.2440C>T
c.2345C>T (p.Ala782Val)
12g.51751536A>CCA480061170SCN8Ac.2313A>C (p.Ala771=)
c.160A>C
c.317A>C
n.2441A>C
c.2346A>C (p.Ala782=)
12g.51751536A>GCA480061169SCN8Ac.2313A>G (p.Ala771=)
c.160A>G
c.317A>G
n.2441A>G
c.2346A>G (p.Ala782=)
12g.51751536A>TCA480061168SCN8Ac.2313A>T (p.Ala771=)
c.160A>T
c.317A>T
n.2441A>T
c.2346A>T (p.Ala782=)
12g.51751537A>CCA384880103SCN8Ac.2314A>C (p.Met772Leu)
c.161A>C
c.318A>C
n.2442A>C
c.2347A>C (p.Met783Leu)
12g.51751537A>GCA384880104SCN8Ac.2314A>G (p.Met772Val)
c.161A>G
c.318A>G
n.2442A>G
c.2347A>G (p.Met783Val)
 ClinVar
12g.51751537A>TCA384880105SCN8Ac.2314A>T (p.Met772Leu)
c.161A>T
c.318A>T
n.2442A>T
c.2347A>T (p.Met783Leu)
12g.51751538T>ACA384880106SCN8Ac.2315T>A (p.Met772Lys)
c.162T>A
c.319T>A
n.2443T>A
c.2348T>A (p.Met783Lys)
12g.51751538T>CCA384880107SCN8Ac.2315T>C (p.Met772Thr)
c.162T>C
c.319T>C
n.2443T>C
c.2348T>C (p.Met783Thr)
12g.51751538T>GCA384880108SCN8Ac.2315T>G (p.Met772Arg)
c.162T>G
c.319T>G
n.2443T>G
c.2348T>G (p.Met783Arg)
12g.51751539G>ACA384880109SCN8Ac.2316G>A (p.Met772Ile)
c.163G>A
c.320G>A
n.2444G>A
c.2349G>A (p.Met783Ile)
12g.51751539G>CCA384880110SCN8Ac.2316G>C (p.Met772Ile)
c.163G>C
c.320G>C
n.2444G>C
c.2349G>C (p.Met783Ile)
12g.51751539G>TCA384880111SCN8Ac.2316G>T (p.Met772Ile)
c.163G>T
c.320G>T
n.2444G>T
c.2349G>T (p.Met783Ile)
12g.51751540G>ACA384880114SCN8Ac.2317G>A (p.Glu773Lys)
c.164G>A
c.321G>A
n.2445G>A
c.2350G>A (p.Glu784Lys)
12g.51751540G>CCA384880113SCN8Ac.2317G>C (p.Glu773Gln)
c.164G>C
c.321G>C
n.2445G>C
c.2350G>C (p.Glu784Gln)
12g.51751540G=CA2036196315SCN8Ac.2317G= (p.Glu773=)
c.164G=
c.321G=
n.2445G=
c.2350G= (p.Glu784=)
12g.51751540G>TCA384880112SCN8Ac.2317G>T (p.Glu773Ter)
c.164G>T
c.321G>T
n.2445G>T
c.2350G>T (p.Glu784Ter)
 dbSNP
12g.51751541A>CCA384880115SCN8Ac.2318A>C (p.Glu773Ala)
c.165A>C
c.322A>C
n.2446A>C
c.2351A>C (p.Glu784Ala)
12g.51751541A>GCA384880116SCN8Ac.2318A>G (p.Glu773Gly)
c.165A>G
c.322A>G
n.2446A>G
c.2351A>G (p.Glu784Gly)
12g.51751541A>TCA384880117SCN8Ac.2318A>T (p.Glu773Val)
c.165A>T
c.322A>T
n.2446A>T
c.2351A>T (p.Glu784Val)
12g.51751542G>ACA480061171SCN8Ac.2319G>A (p.Glu773=)
c.166G>A
c.323G>A
n.2447G>A
c.2352G>A (p.Glu784=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51751542G>CCA384880118SCN8Ac.2319G>C (p.Glu773Asp)
c.166G>C
c.323G>C
n.2447G>C
c.2352G>C (p.Glu784Asp)
12g.51751542G=CA2036196319SCN8Ac.2319G= (p.Glu773=)
c.166G=
c.323G=
n.2447G=
c.2352G= (p.Glu784=)
12g.51751542G>TCA384880119SCN8Ac.2319G>T (p.Glu773Asp)
c.166G>T
c.323G>T
n.2447G>T
c.2352G>T (p.Glu784Asp)
12g.51751543C>ACA384880120SCN8Ac.2320C>A (p.His774Asn)
c.167C>A
c.324C>A
n.2448C>A
c.2353C>A (p.His785Asn)
12g.51751543C=CA2036196322SCN8Ac.2320C= (p.His774=)
c.167C=
c.324C=
n.2448C=
c.2353C= (p.His785=)
12g.51751543C>GCA384880121SCN8Ac.2320C>G (p.His774Asp)
c.167C>G
c.324C>G
n.2448C>G
c.2353C>G (p.His785Asp)
12g.51751543C>TCA384880122SCN8Ac.2320C>T (p.His774Tyr)
c.167C>T
c.324C>T
n.2448C>T
c.2353C>T (p.His785Tyr)
 ClinVar dbSNP gnomAD v4
12g.51751544A=CA2036196326SCN8Ac.2321A= (p.His774=)
c.168A=
c.325A=
n.2449A=
c.2354A= (p.His785=)
12g.51751544A>CCA384880123SCN8Ac.2321A>C (p.His774Pro)
c.168A>C
c.325A>C
n.2449A>C
c.2354A>C (p.His785Pro)
 dbSNP
12g.51751544A>GCA384880124SCN8Ac.2321A>G (p.His774Arg)
c.168A>G
c.325A>G
n.2449A>G
c.2354A>G (p.His785Arg)
12g.51751544A>TCA384880125SCN8Ac.2321A>T (p.His774Leu)
c.168A>T
c.325A>T
n.2449A>T
c.2354A>T (p.His785Leu)
12g.51751545C>ACA384880126SCN8Ac.2322C>A (p.His774Gln)
c.169C>A
c.326C>A
n.2450C>A
c.2355C>A (p.His785Gln)
12g.51751545C>GCA384880127SCN8Ac.2322C>G (p.His774Gln)
c.169C>G
c.326C>G
n.2450C>G
c.2355C>G (p.His785Gln)
12g.51751545C>TCA480061172SCN8Ac.2322C>T (p.His774=)
c.169C>T
c.326C>T
n.2450C>T
c.2355C>T (p.His785=)
12g.51751546C>ACA384880130SCN8Ac.2323C>A (p.His775Asn)
c.170C>A
c.327C>A
n.2451C>A
c.2356C>A (p.His786Asn)
12g.51751546C=CA2036196329SCN8Ac.2323C= (p.His775=)
c.170C=
c.327C=
n.2451C=
c.2356C= (p.His786=)
12g.51751546C>GCA384880129SCN8Ac.2323C>G (p.His775Asp)
c.170C>G
c.327C>G
n.2451C>G
c.2356C>G (p.His786Asp)
12g.51751546C>TCA384880128SCN8Ac.2323C>T (p.His775Tyr)
c.170C>T
c.327C>T
n.2451C>T
c.2356C>T (p.His786Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51751547A>CCA384880131SCN8Ac.2324A>C (p.His775Pro)
c.171A>C
c.328A>C
n.2452A>C
c.2357A>C (p.His786Pro)
12g.51751547A>GCA384880132SCN8Ac.2324A>G (p.His775Arg)
c.171A>G
c.328A>G
n.2452A>G
c.2357A>G (p.His786Arg)
12g.51751547A>TCA384880133SCN8Ac.2324A>T (p.His775Leu)
c.171A>T
c.328A>T
n.2452A>T
c.2357A>T (p.His786Leu)
12g.51751548T>ACA384880134SCN8Ac.2325T>A (p.His775Gln)
c.172T>A
c.329T>A
n.2453T>A
c.2358T>A (p.His786Gln)
12g.51751548T>CCA16614142SCN8Ac.2325T>C (p.His775=)
c.172T>C
c.329T>C
n.2453T>C
c.2358T>C (p.His786=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51751548T>GCA384880135SCN8Ac.2325T>G (p.His775Gln)
c.172T>G
c.329T>G
n.2453T>G
c.2358T>G (p.His786Gln)
12g.51751548T=CA2036196333SCN8Ac.2325T= (p.His775=)
c.172T=
c.329T=
n.2453T=
c.2358T= (p.His786=)
12g.51751549C>ACA384880136SCN8Ac.2326C>A (p.Pro776Thr)
c.173C>A
c.330C>A
n.2454C>A
c.2359C>A (p.Pro787Thr)
12g.51751549C>GCA384880137SCN8Ac.2326C>G (p.Pro776Ala)
c.173C>G
c.330C>G
n.2454C>G
c.2359C>G (p.Pro787Ala)
12g.51751549C>TCA384880138SCN8Ac.2326C>T (p.Pro776Ser)
c.173C>T
c.330C>T
n.2454C>T
c.2359C>T (p.Pro787Ser)
12g.51751550C>ACA384880139SCN8Ac.2327C>A (p.Pro776His)
c.174C>A
c.331C>A
n.2455C>A
c.2360C>A (p.Pro787His)
12g.51751550C>GCA384880140SCN8Ac.2327C>G (p.Pro776Arg)
c.174C>G
c.331C>G
n.2455C>G
c.2360C>G (p.Pro787Arg)
12g.51751550C>TCA384880141SCN8Ac.2327C>T (p.Pro776Leu)
c.174C>T
c.331C>T
n.2455C>T
c.2360C>T (p.Pro787Leu)
12g.51751551T>ACA480061173SCN8Ac.2328T>A (p.Pro776=)
c.175T>A
c.332T>A
n.2456T>A
c.2361T>A (p.Pro787=)
12g.51751551T>CCA480061174SCN8Ac.2328T>C (p.Pro776=)
c.175T>C
c.332T>C
n.2456T>C
c.2361T>C (p.Pro787=)
 gnomAD v4
12g.51751551T>GCA480061175SCN8Ac.2328T>G (p.Pro776=)
c.175T>G
c.332T>G
n.2456T>G
c.2361T>G (p.Pro787=)
12g.51751552A=CA2036196336SCN8Ac.2329A= (p.Met777=)
c.176A=
c.333A=
n.2457A=
c.2362A= (p.Met788=)
12g.51751552A>CCA384880142SCN8Ac.2329A>C (p.Met777Leu)
c.176A>C
c.333A>C
n.2457A>C
c.2362A>C (p.Met788Leu)
12g.51751552A>GCA384880143SCN8Ac.2329A>G (p.Met777Val)
c.176A>G
c.333A>G
n.2457A>G
c.2362A>G (p.Met788Val)
 dbSNP gnomAD v2 gnomAD v4
12g.51751552A>TCA384880144SCN8Ac.2329A>T (p.Met777Leu)
c.176A>T
c.333A>T
n.2457A>T
c.2362A>T (p.Met788Leu)
12g.51751553T>ACA384880146SCN8Ac.2330T>A (p.Met777Lys)
c.177T>A
c.334T>A
n.2458T>A
c.2363T>A (p.Met788Lys)
12g.51751553T>CCA384880147SCN8Ac.2330T>C (p.Met777Thr)
c.177T>C
c.334T>C
n.2458T>C
c.2363T>C (p.Met788Thr)
12g.51751553T>GCA384880145SCN8Ac.2330T>G (p.Met777Arg)
c.177T>G
c.334T>G
n.2458T>G
c.2363T>G (p.Met788Arg)
12g.51751554G>ACA384880148SCN8Ac.2331G>A (p.Met777Ile)
c.178G>A
c.335G>A
n.2459G>A
c.2364G>A (p.Met788Ile)
12g.51751554G>CCA384880149SCN8Ac.2331G>C (p.Met777Ile)
c.178G>C
c.335G>C
n.2459G>C
c.2364G>C (p.Met788Ile)
12g.51751554G>TCA384880150SCN8Ac.2331G>T (p.Met777Ile)
c.178G>T
c.335G>T
n.2459G>T
c.2364G>T (p.Met788Ile)
12g.51751555A>CCA384880151SCN8Ac.2332A>C (p.Thr778Pro)
c.179A>C
c.336A>C
n.2460A>C
c.2365A>C (p.Thr789Pro)
12g.51751555A>GCA384880152SCN8Ac.2332A>G (p.Thr778Ala)
c.179A>G
c.336A>G
n.2460A>G
c.2365A>G (p.Thr789Ala)
12g.51751555A>TCA384880153SCN8Ac.2332A>T (p.Thr778Ser)
c.179A>T
c.336A>T
n.2460A>T
c.2365A>T (p.Thr789Ser)
12g.51751556C>ACA384880154SCN8Ac.2333C>A (p.Thr778Lys)
c.180C>A
c.337C>A
n.2461C>A
c.2366C>A (p.Thr789Lys)
12g.51751556C>GCA384880155SCN8Ac.2333C>G (p.Thr778Arg)
c.180C>G
c.337C>G
n.2461C>G
c.2366C>G (p.Thr789Arg)
12g.51751556C>TCA384880156SCN8Ac.2333C>T (p.Thr778Ile)
c.180C>T
c.337C>T
n.2461C>T
c.2366C>T (p.Thr789Ile)
12g.51751557A>CCA480061178SCN8Ac.2334A>C (p.Thr778=)
c.181A>C
c.338A>C
n.2462A>C
c.2367A>C (p.Thr789=)
12g.51751557A>GCA480061177SCN8Ac.2334A>G (p.Thr778=)
c.181A>G
c.338A>G
n.2462A>G
c.2367A>G (p.Thr789=)
12g.51751557A>TCA480061176SCN8Ac.2334A>T (p.Thr778=)
c.181A>T
c.338A>T
n.2462A>T
c.2367A>T (p.Thr789=)
12g.51751558C>ACA6571456SCN8Ac.2335C>A (p.Pro779Thr)
c.182C>A
c.339C>A
n.2463C>A
c.2368C>A (p.Pro790Thr)
 dbSNP ExAC gnomAD v2
12g.51751558C=CA2036196340SCN8Ac.2335C= (p.Pro779=)
c.182C=
c.339C=
n.2463C=
c.2368C= (p.Pro790=)
12g.51751558C>GCA384880157SCN8Ac.2335C>G (p.Pro779Ala)
c.182C>G
c.339C>G
n.2463C>G
c.2368C>G (p.Pro790Ala)
12g.51751558C>TCA384880158SCN8Ac.2335C>T (p.Pro779Ser)
c.182C>T
c.339C>T
n.2463C>T
c.2368C>T (p.Pro790Ser)
 gnomAD v4
12g.51751559C>ACA384880161SCN8Ac.2336C>A (p.Pro779Gln)
c.183C>A
c.340C>A
n.2464C>A
c.2369C>A (p.Pro790Gln)
12g.51751559C>GCA384880159SCN8Ac.2336C>G (p.Pro779Arg)
c.183C>G
c.340C>G
n.2464C>G
c.2369C>G (p.Pro790Arg)
12g.51751559C>TCA384880160SCN8Ac.2336C>T (p.Pro779Leu)
c.183C>T
c.340C>T
n.2464C>T
c.2369C>T (p.Pro790Leu)
 COSMIC
12g.51751560A=CA2036196343SCN8Ac.2337A= (p.Pro779=)
c.184A=
c.341A=
n.2465A=
c.2370A= (p.Pro790=)
12g.51751560A>CCA480061179SCN8Ac.2337A>C (p.Pro779=)
c.184A>C
c.341A>C
n.2465A>C
c.2370A>C (p.Pro790=)
12g.51751560A>GCA6571457SCN8Ac.2337A>G (p.Pro779=)
c.184A>G
c.341A>G
n.2465A>G
c.2370A>G (p.Pro790=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51751560A>TCA480061180SCN8Ac.2337A>T (p.Pro779=)
c.184A>T
c.341A>T
n.2465A>T
c.2370A>T (p.Pro790=)
12g.51751561C>ACA384880162SCN8Ac.2338C>A (p.Gln780Lys)
c.185C>A
c.342C>A
n.2466C>A
c.2371C>A (p.Gln791Lys)
12g.51751561C=CA2036196347SCN8Ac.2338C= (p.Gln780=)
c.185C=
c.342C=
n.2466C=
c.2371C= (p.Gln791=)
12g.51751561C>GCA384880163SCN8Ac.2338C>G (p.Gln780Glu)
c.185C>G
c.342C>G
n.2466C>G
c.2371C>G (p.Gln791Glu)
12g.51751561C>TCA384880164SCN8Ac.2338C>T (p.Gln780Ter)
c.185C>T
c.342C>T
n.2466C>T
c.2371C>T (p.Gln791Ter)
 dbSNP
12g.51751562A>CCA384880165SCN8Ac.2339A>C (p.Gln780Pro)
c.186A>C
c.343A>C
n.2467A>C
c.2372A>C (p.Gln791Pro)
12g.51751562A>GCA384880166SCN8Ac.2339A>G (p.Gln780Arg)
c.186A>G
c.343A>G
n.2467A>G
c.2372A>G (p.Gln791Arg)
12g.51751562A>TCA384880167SCN8Ac.2339A>T (p.Gln780Leu)
c.186A>T
c.343A>T
n.2467A>T
c.2372A>T (p.Gln791Leu)
12g.51751563A>CCA384880168SCN8Ac.2340A>C (p.Gln780His)
c.187A>C
c.344A>C
n.2468A>C
c.2373A>C (p.Gln791His)
12g.51751563A>GCA480061181SCN8Ac.2340A>G (p.Gln780=)
c.187A>G
c.344A>G
n.2468A>G
c.2373A>G (p.Gln791=)
 gnomAD v4
12g.51751563A>TCA384880169SCN8Ac.2340A>T (p.Gln780His)
c.187A>T
c.344A>T
n.2468A>T
c.2373A>T (p.Gln791His)
12g.51751564T>ACA384880170SCN8Ac.2341T>A (p.Phe781Ile)
c.188T>A
c.345T>A
n.2469T>A
c.2374T>A (p.Phe792Ile)
12g.51751564T>CCA384880171SCN8Ac.2341T>C (p.Phe781Leu)
c.188T>C
c.345T>C
n.2469T>C
c.2374T>C (p.Phe792Leu)
12g.51751564T>GCA384880172SCN8Ac.2341T>G (p.Phe781Val)
c.188T>G
c.345T>G
n.2469T>G
c.2374T>G (p.Phe792Val)
 COSMIC COSMIC
12g.51751565T>ACA384880174SCN8Ac.2342T>A (p.Phe781Tyr)
c.189T>A
c.346T>A
n.2470T>A
c.2375T>A (p.Phe792Tyr)
12g.51751565T>CCA384880175SCN8Ac.2342T>C (p.Phe781Ser)
c.189T>C
c.346T>C
n.2470T>C
c.2375T>C (p.Phe792Ser)
12g.51751565T>GCA384880173SCN8Ac.2342T>G (p.Phe781Cys)
c.189T>G
c.346T>G
n.2470T>G
c.2375T>G (p.Phe792Cys)
12g.51751566T>ACA384880177SCN8Ac.2343T>A (p.Phe781Leu)
c.190T>A
c.347T>A
n.2471T>A
c.2376T>A (p.Phe792Leu)
12g.51751566T>CCA480061182SCN8Ac.2343T>C (p.Phe781=)
c.190T>C
c.347T>C
n.2471T>C
c.2376T>C (p.Phe792=)
12g.51751566T>GCA384880176SCN8Ac.2343T>G (p.Phe781Leu)
c.190T>G
c.347T>G
n.2471T>G
c.2376T>G (p.Phe792Leu)
12g.51751567G>ACA384880179SCN8Ac.2344G>A (p.Glu782Lys)
c.191G>A
c.348G>A
n.2472G>A
c.2377G>A (p.Glu793Lys)
12g.51751567G>CCA384880178SCN8Ac.2344G>C (p.Glu782Gln)
c.191G>C
c.348G>C
n.2472G>C
c.2377G>C (p.Glu793Gln)
 dbSNP gnomAD v4
12g.51751567G=CA2036196351SCN8Ac.2344G= (p.Glu782=)
c.191G=
c.348G=
n.2472G=
c.2377G= (p.Glu793=)
12g.51751567G>TCA384880180SCN8Ac.2344G>T (p.Glu782Ter)
c.191G>T
c.348G>T
n.2472G>T
c.2377G>T (p.Glu793Ter)
 dbSNP
12g.51751568A>CCA384880181SCN8Ac.2345A>C (p.Glu782Ala)
c.192A>C
c.349A>C
n.2473A>C
c.2378A>C (p.Glu793Ala)
12g.51751568A>GCA384880182SCN8Ac.2345A>G (p.Glu782Gly)
c.192A>G
c.349A>G
n.2473A>G
c.2378A>G (p.Glu793Gly)
12g.51751568A>TCA384880183SCN8Ac.2345A>T (p.Glu782Val)
c.192A>T
c.349A>T
n.2473A>T
c.2378A>T (p.Glu793Val)
12g.51751569A>CCA384880184SCN8Ac.2346A>C (p.Glu782Asp)
c.193A>C
c.350A>C
n.2474A>C
c.2379A>C (p.Glu793Asp)
12g.51751569A>GCA480061183SCN8Ac.2346A>G (p.Glu782=)
c.193A>G
c.350A>G
n.2474A>G
c.2379A>G (p.Glu793=)
12g.51751569A>TCA384880185SCN8Ac.2346A>T (p.Glu782Asp)
c.193A>T
c.350A>T
n.2474A>T
c.2379A>T (p.Glu793Asp)
12g.51751570C>ACA384880186SCN8Ac.2347C>A (p.His783Asn)
c.194C>A
c.351C>A
n.2475C>A
c.2380C>A (p.His794Asn)
 gnomAD v4
12g.51751570C=CA2036196354SCN8Ac.2347C= (p.His783=)
c.194C=
c.351C=
n.2475C=
c.2380C= (p.His794=)
12g.51751570C>GCA384880187SCN8Ac.2347C>G (p.His783Asp)
c.194C>G
c.351C>G
n.2475C>G
c.2380C>G (p.His794Asp)
12g.51751570C>TCA384880188SCN8Ac.2347C>T (p.His783Tyr)
c.194C>T
c.351C>T
n.2475C>T
c.2380C>T (p.His794Tyr)
 dbSNP gnomAD v3 gnomAD v4
12g.51751571A>CCA384880189SCN8Ac.2348A>C (p.His783Pro)
c.195A>C
c.352A>C
n.2476A>C
c.2381A>C (p.His794Pro)
12g.51751571A>GCA384880190SCN8Ac.2348A>G (p.His783Arg)
c.195A>G
c.352A>G
n.2476A>G
c.2381A>G (p.His794Arg)
12g.51751571A>TCA384880191SCN8Ac.2348A>T (p.His783Leu)
c.195A>T
c.352A>T
n.2476A>T
c.2381A>T (p.His794Leu)
12g.51751572T>ACA384880192SCN8Ac.2349T>A (p.His783Gln)
c.196T>A
c.353T>A
n.2477T>A
c.2382T>A (p.His794Gln)
12g.51751572T>CCA480061184SCN8Ac.2349T>C (p.His783=)
c.196T>C
c.353T>C
n.2477T>C
c.2382T>C (p.His794=)
 gnomAD v4
12g.51751572T>GCA384880193SCN8Ac.2349T>G (p.His783Gln)
c.196T>G
c.353T>G
n.2477T>G
c.2382T>G (p.His794Gln)
12g.51751573G>ACA384880194SCN8Ac.2350G>A (p.Val784Ile)
c.197G>A
c.354G>A
n.2478G>A
c.2383G>A (p.Val795Ile)
 ClinVar dbSNP
12g.51751573G>CCA384880196SCN8Ac.2350G>C (p.Val784Leu)
c.197G>C
c.354G>C
n.2478G>C
c.2383G>C (p.Val795Leu)
12g.51751573G=CA2036196356SCN8Ac.2350G= (p.Val784=)
c.197G=
c.354G=
n.2478G=
c.2383G= (p.Val795=)
12g.51751573G>TCA384880195SCN8Ac.2350G>T (p.Val784Phe)
c.197G>T
c.354G>T
n.2478G>T
c.2383G>T (p.Val795Phe)
12g.51751574T>ACA384880197SCN8Ac.2351T>A (p.Val784Asp)
c.198T>A
c.355T>A
n.2479T>A
c.2384T>A (p.Val795Asp)
12g.51751574T>CCA384880198SCN8Ac.2351T>C (p.Val784Ala)
c.198T>C
c.355T>C
n.2479T>C
c.2384T>C (p.Val795Ala)
12g.51751574T>GCA384880199SCN8Ac.2351T>G (p.Val784Gly)
c.198T>G
c.355T>G
n.2479T>G
c.2384T>G (p.Val795Gly)
12g.51751575C>ACA480061185SCN8Ac.2352C>A (p.Val784=)
c.199C>A
c.356C>A
n.2480C>A
c.2385C>A (p.Val795=)
 gnomAD v4
12g.51751575C>GCA480061186SCN8Ac.2352C>G (p.Val784=)
c.199C>G
c.356C>G
n.2480C>G
c.2385C>G (p.Val795=)
 ClinVar dbSNP
12g.51751575C>TCA480061187SCN8Ac.2352C>T (p.Val784=)
c.199C>T
c.356C>T
n.2480C>T
c.2385C>T (p.Val795=)
12g.51751576T>ACA384880200SCN8Ac.2353T>A (p.Leu785Met)
c.200T>A
c.357T>A
n.2481T>A
c.2386T>A (p.Leu796Met)
12g.51751576T>CCA480061188SCN8Ac.2353T>C (p.Leu785=)
c.200T>C
c.357T>C
n.2481T>C
c.2386T>C (p.Leu796=)
12g.51751576T>GCA384880201SCN8Ac.2353T>G (p.Leu785Val)
c.200T>G
c.357T>G
n.2481T>G
c.2386T>G (p.Leu796Val)
12g.51751577T>ACA384880202SCN8Ac.2354T>A (p.Leu785Ter)
c.201T>A
c.358T>A
n.2482T>A
c.2387T>A (p.Leu796Ter)
 dbSNP
12g.51751577T>CCA384880203SCN8Ac.2354T>C (p.Leu785Ser)
c.201T>C
c.358T>C
n.2482T>C
c.2387T>C (p.Leu796Ser)
12g.51751577T>GCA384880204SCN8Ac.2354T>G (p.Leu785Trp)
c.201T>G
c.358T>G
n.2482T>G
c.2387T>G (p.Leu796Trp)
12g.51751577T=CA2036196360SCN8Ac.2354T= (p.Leu785=)
c.201T=
c.358T=
n.2482T=
c.2387T= (p.Leu796=)
12g.51751578G>ACA480061189SCN8Ac.2355G>A (p.Leu785=)
c.202G>A
c.359G>A
n.2483G>A
c.2388G>A (p.Leu796=)
 COSMIC COSMIC
12g.51751578G>CCA384880205SCN8Ac.2355G>C (p.Leu785Phe)
c.202G>C
c.359G>C
n.2483G>C
c.2388G>C (p.Leu796Phe)
12g.51751578G>TCA384880206SCN8Ac.2355G>T (p.Leu785Phe)
c.202G>T
c.359G>T
n.2483G>T
c.2388G>T (p.Leu796Phe)
 COSMIC COSMIC
12g.51751579G>ACA384880208SCN8Ac.2356G>A (p.Ala786Thr)
c.203G>A
c.360G>A
n.2484G>A
c.2389G>A (p.Ala797Thr)
12g.51751579G>CCA384880209SCN8Ac.2356G>C (p.Ala786Pro)
c.203G>C
c.360G>C
n.2484G>C
c.2389G>C (p.Ala797Pro)
12g.51751579G>TCA384880207SCN8Ac.2356G>T (p.Ala786Ser)
c.203G>T
c.360G>T
n.2484G>T
c.2389G>T (p.Ala797Ser)

Number of alleles fetched