Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018299C>ACA420250251HJVc.1059G>T (p.Val353=)
c.381G>T (p.Val127=)
c.720G>T (p.Val240=)
1g.146018299C>GCA420250252HJVc.1059G>C (p.Val353=)
c.381G>C (p.Val127=)
c.720G>C (p.Val240=)
1g.146018299C>TCA420250250HJVc.1059G>A (p.Val353=)
c.381G>A (p.Val127=)
c.720G>A (p.Val240=)
1g.146018300A>CCA342133312HJVc.1058T>G (p.Val353Gly)
c.380T>G (p.Val127Gly)
c.719T>G (p.Val240Gly)
1g.146018300A>GCA342133314HJVc.1058T>C (p.Val353Ala)
c.380T>C (p.Val127Ala)
c.719T>C (p.Val240Ala)
1g.146018300A>TCA342133313HJVc.1058T>A (p.Val353Glu)
c.380T>A (p.Val127Glu)
c.719T>A (p.Val240Glu)
1g.146018301C>ACA342133320HJVc.1057G>T (p.Val353Leu)
c.379G>T (p.Val127Leu)
c.718G>T (p.Val240Leu)
1g.146018301C>GCA342133325HJVc.1057G>C (p.Val353Leu)
c.379G>C (p.Val127Leu)
c.718G>C (p.Val240Leu)
1g.146018301C>TCA342133328HJVc.1057G>A (p.Val353Met)
c.379G>A (p.Val127Met)
c.718G>A (p.Val240Met)
1g.146018302T>ACA420250256HJVc.1056A>T (p.Pro352=)
c.378A>T (p.Pro126=)
c.717A>T (p.Pro239=)
1g.146018302T>CCA420250255HJVc.1056A>G (p.Pro352=)
c.378A>G (p.Pro126=)
c.717A>G (p.Pro239=)
gnomAD
1g.146018302T>GCA420250254HJVc.1056A>C (p.Pro352=)
c.378A>C (p.Pro126=)
c.717A>C (p.Pro239=)
1g.146018302T=CA1198820910HJVc.1056A= (p.Pro352=)
c.378A= (p.Pro126=)
c.717A= (p.Pro239=)
1g.146018303G>ACA1053956HJVc.1055C>T (p.Pro352Leu)
c.377C>T (p.Pro126Leu)
c.716C>T (p.Pro239Leu)
ExAC gnomAD
1g.146018303G>CCA29823263HJVc.1055C>G (p.Pro352Arg)
c.377C>G (p.Pro126Arg)
c.716C>G (p.Pro239Arg)
dbSNP
1g.146018303G=CA1143670587HJVc.1055C= (p.Pro352=)
c.377C= (p.Pro126=)
c.716C= (p.Pro239=)
1g.146018303G>TCA29823270HJVc.1055C>A (p.Pro352Gln)
c.377C>A (p.Pro126Gln)
c.716C>A (p.Pro239Gln)
dbSNP
1g.146018304G>ACA342133346HJVc.1054C>T (p.Pro352Ser)
c.376C>T (p.Pro126Ser)
c.715C>T (p.Pro239Ser)
1g.146018304G>CCA342133348HJVc.1054C>G (p.Pro352Ala)
c.376C>G (p.Pro126Ala)
c.715C>G (p.Pro239Ala)
1g.146018304G>TCA342133351HJVc.1054C>A (p.Pro352Thr)
c.376C>A (p.Pro126Thr)
c.715C>A (p.Pro239Thr)
1g.146018305A>CCA420603226HJVc.1053T>G (p.Leu351=)
c.375T>G (p.Leu125=)
c.714T>G (p.Leu238=)
1g.146018305A>GCA420603225HJVc.1053T>C (p.Leu351=)
c.375T>C (p.Leu125=)
c.714T>C (p.Leu238=)
1g.146018305A>TCA420603227HJVc.1053T>A (p.Leu351=)
c.375T>A (p.Leu125=)
c.714T>A (p.Leu238=)
1g.146018306A>CCA342134070HJVc.1052T>G (p.Leu351Arg)
c.374T>G (p.Leu125Arg)
c.713T>G (p.Leu238Arg)
1g.146018306A>GCA342134064HJVc.1052T>C (p.Leu351Pro)
c.374T>C (p.Leu125Pro)
c.713T>C (p.Leu238Pro)
1g.146018306A>TCA342134062HJVc.1052T>A (p.Leu351His)
c.374T>A (p.Leu125His)
c.713T>A (p.Leu238His)
1g.146018307G>ACA1053955HJVc.1051C>T (p.Leu351Phe)
c.373C>T (p.Leu125Phe)
c.712C>T (p.Leu238Phe)
ExAC gnomAD
1g.146018307G>CCA29823279HJVc.1051C>G (p.Leu351Val)
c.373C>G (p.Leu125Val)
c.712C>G (p.Leu238Val)
dbSNP
1g.146018307G=CA1148206201HJVc.1051C= (p.Leu351=)
c.373C= (p.Leu125=)
c.712C= (p.Leu238=)
1g.146018307G>TCA29823286HJVc.1051C>A (p.Leu351Ile)
c.373C>A (p.Leu125Ile)
c.712C>A (p.Leu238Ile)
dbSNP
1g.146018308C>ACA420603229HJVc.1050G>T (p.Gly350=)
c.372G>T (p.Gly124=)
c.711G>T (p.Gly237=)
1g.146018308C>GCA420603228HJVc.1050G>C (p.Gly350=)
c.372G>C (p.Gly124=)
c.711G>C (p.Gly237=)
1g.146018308C>TCA420603231HJVc.1050G>A (p.Gly350=)
c.372G>A (p.Gly124=)
c.711G>A (p.Gly237=)
1g.146018309C>ACA342134083HJVc.1049G>T (p.Gly350Val)
c.371G>T (p.Gly124Val)
c.710G>T (p.Gly237Val)
gnomAD
1g.146018309C=CA1198820911HJVc.1049G= (p.Gly350=)
c.371G= (p.Gly124=)
c.710G= (p.Gly237=)
1g.146018309C>GCA342134088HJVc.1049G>C (p.Gly350Ala)
c.371G>C (p.Gly124Ala)
c.710G>C (p.Gly237Ala)
1g.146018309C>TCA342134089HJVc.1049G>A (p.Gly350Glu)
c.371G>A (p.Gly124Glu)
c.710G>A (p.Gly237Glu)
1g.146018310C>ACA342134094HJVc.1048G>T (p.Gly350Trp)
c.370G>T (p.Gly124Trp)
c.709G>T (p.Gly237Trp)
1g.146018310C>GCA342134095HJVc.1048G>C (p.Gly350Arg)
c.370G>C (p.Gly124Arg)
c.709G>C (p.Gly237Arg)
1g.146018310C>TCA342134096HJVc.1048G>A (p.Gly350Arg)
c.370G>A (p.Gly124Arg)
c.709G>A (p.Gly237Arg)
1g.146018311T>ACA342134098HJVc.1047A>T (p.Glu349Asp)
c.369A>T (p.Glu123Asp)
c.708A>T (p.Glu236Asp)
1g.146018311T>CCA420603234HJVc.1047A>G (p.Glu349=)
c.369A>G (p.Glu123=)
c.708A>G (p.Glu236=)
ClinVar
1g.146018311T>GCA342134106HJVc.1047A>C (p.Glu349Asp)
c.369A>C (p.Glu123Asp)
c.708A>C (p.Glu236Asp)
1g.146018312T>ACA342134131HJVc.1046A>T (p.Glu349Val)
c.368A>T (p.Glu123Val)
c.707A>T (p.Glu236Val)
1g.146018312T>CCA342134136HJVc.1046A>G (p.Glu349Gly)
c.368A>G (p.Glu123Gly)
c.707A>G (p.Glu236Gly)
1g.146018312T>GCA342134113HJVc.1046A>C (p.Glu349Ala)
c.368A>C (p.Glu123Ala)
c.707A>C (p.Glu236Ala)
1g.146018313C>ACA342134143HJVc.1045G>T (p.Glu349Ter)
c.367G>T (p.Glu123Ter)
c.706G>T (p.Glu236Ter)
1g.146018313C>GCA342134150HJVc.1045G>C (p.Glu349Gln)
c.367G>C (p.Glu123Gln)
c.706G>C (p.Glu236Gln)
1g.146018313C>TCA342134154HJVc.1045G>A (p.Glu349Lys)
c.367G>A (p.Glu123Lys)
c.706G>A (p.Glu236Lys)
COSMIC
1g.146018314C>ACA342134169HJVc.1044G>T (p.Lys348Asn)
c.366G>T (p.Lys122Asn)
c.705G>T (p.Lys235Asn)

Number of alleles fetched