Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38579337A>CCA433134373SCN5Ac.3384T>G (p.Gly1128=)
c.3387T>G (p.Gly1129=)
c.3228+1594T>G (n.3228+1594T>G)
c.3258T>G (p.Gly1086=)
3g.38579337A>GCA433134372SCN5Ac.3384T>C (p.Gly1128=)
c.3387T>C (p.Gly1129=)
c.3228+1594T>C (n.3228+1594T>C)
c.3258T>C (p.Gly1086=)
3g.38579337A>TCA433134371SCN5Ac.3384T>A (p.Gly1128=)
c.3387T>A (p.Gly1129=)
c.3228+1594T>A (n.3228+1594T>A)
c.3258T>A (p.Gly1086=)
3g.38579338C>ACA352138596SCN5Ac.3383G>T (p.Gly1128Val)
c.3386G>T (p.Gly1129Val)
c.3228+1593G>T (n.3228+1593G>T)
c.3257G>T (p.Gly1086Val)
gnomAD v4
3g.38579338C>GCA352138597SCN5Ac.3383G>C (p.Gly1128Ala)
c.3386G>C (p.Gly1129Ala)
c.3228+1593G>C (n.3228+1593G>C)
c.3257G>C (p.Gly1086Ala)
3g.38579338C>TCA352138598SCN5Ac.3383G>A (p.Gly1128Asp)
c.3386G>A (p.Gly1129Asp)
c.3228+1593G>A (n.3228+1593G>A)
c.3257G>A (p.Gly1086Asp)
ClinVar dbSNP gnomAD v4
3g.38579339C>ACA352138599SCN5Ac.3382G>T (p.Gly1128Cys)
c.3385G>T (p.Gly1129Cys)
c.3228+1592G>T (n.3228+1592G>T)
c.3256G>T (p.Gly1086Cys)
gnomAD v4
3g.38579339C=CA1358574406SCN5Ac.3382G= (p.Gly1128=)
c.3385G= (p.Gly1129=)
c.3228+1592G= (n.3228+1592G=)
c.3256G= (p.Gly1086=)
3g.38579339C>GCA352138600SCN5Ac.3382G>C (p.Gly1128Arg)
c.3385G>C (p.Gly1129Arg)
c.3228+1592G>C (n.3228+1592G>C)
c.3256G>C (p.Gly1086Arg)
3g.38579339C>TCA72925026SCN5Ac.3382G>A (p.Gly1128Ser)
c.3385G>A (p.Gly1129Ser)
c.3228+1592G>A (n.3228+1592G>A)
c.3256G>A (p.Gly1086Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38579340G>ACA10618417SCN5Ac.3381C>T (p.Cys1127=)
c.3384C>T (p.Cys1128=)
c.3228+1591C>T (n.3228+1591C>T)
c.3255C>T (p.Cys1085=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38579340G>CCA352138601SCN5Ac.3381C>G (p.Cys1127Trp)
c.3384C>G (p.Cys1128Trp)
c.3228+1591C>G (n.3228+1591C>G)
c.3255C>G (p.Cys1085Trp)
3g.38579340G=CA1358574408SCN5Ac.3381C= (p.Cys1127=)
c.3384C= (p.Cys1128=)
c.3228+1591C= (n.3228+1591C=)
c.3255C= (p.Cys1085=)
3g.38579340G>TCA061711SCN5Ac.3381C>A (p.Cys1127Ter)
c.3384C>A (p.Cys1128Ter)
c.3228+1591C>A (n.3228+1591C>A)
c.3255C>A (p.Cys1085Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38579341C>ACA352138603SCN5Ac.3380G>T (p.Cys1127Phe)
c.3383G>T (p.Cys1128Phe)
c.3228+1590G>T (n.3228+1590G>T)
c.3254G>T (p.Cys1085Phe)
gnomAD v4
3g.38579341C>GCA352138604SCN5Ac.3380G>C (p.Cys1127Ser)
c.3383G>C (p.Cys1128Ser)
c.3228+1590G>C (n.3228+1590G>C)
c.3254G>C (p.Cys1085Ser)
3g.38579341C>TCA352138602SCN5Ac.3380G>A (p.Cys1127Tyr)
c.3383G>A (p.Cys1128Tyr)
c.3228+1590G>A (n.3228+1590G>A)
c.3254G>A (p.Cys1085Tyr)
gnomAD v4
3g.38579342A=CA1358574410SCN5Ac.3379T= (p.Cys1127=)
c.3382T= (p.Cys1128=)
c.3228+1589T= (n.3228+1589T=)
c.3253T= (p.Cys1085=)
3g.38579342A>CCA352138607SCN5Ac.3379T>G (p.Cys1127Gly)
c.3382T>G (p.Cys1128Gly)
c.3228+1589T>G (n.3228+1589T>G)
c.3253T>G (p.Cys1085Gly)
dbSNP
3g.38579342A>GCA352138605SCN5Ac.3379T>C (p.Cys1127Arg)
c.3382T>C (p.Cys1128Arg)
c.3228+1589T>C (n.3228+1589T>C)
c.3253T>C (p.Cys1085Arg)
3g.38579342A>TCA352138606SCN5Ac.3379T>A (p.Cys1127Ser)
c.3382T>A (p.Cys1128Ser)
c.3228+1589T>A (n.3228+1589T>A)
c.3253T>A (p.Cys1085Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38579343C>ACA433134374SCN5Ac.3378G>T (p.Gly1126=)
c.3381G>T (p.Gly1127=)
c.3228+1588G>T (n.3228+1588G>T)
c.3252G>T (p.Gly1084=)
3g.38579343C=CA1358574412SCN5Ac.3378G= (p.Gly1126=)
c.3381G= (p.Gly1127=)
c.3228+1588G= (n.3228+1588G=)
c.3252G= (p.Gly1084=)
3g.38579343C>GCA433134375SCN5Ac.3378G>C (p.Gly1126=)
c.3381G>C (p.Gly1127=)
c.3228+1588G>C (n.3228+1588G>C)
c.3252G>C (p.Gly1084=)
3g.38579343C>TCA72925032SCN5Ac.3378G>A (p.Gly1126=)
c.3381G>A (p.Gly1127=)
c.3228+1588G>A (n.3228+1588G>A)
c.3252G>A (p.Gly1084=)
dbSNP gnomAD v4
3g.38579344C>ACA352138608SCN5Ac.3377G>T (p.Gly1126Val)
c.3380G>T (p.Gly1127Val)
c.3228+1587G>T (n.3228+1587G>T)
c.3251G>T (p.Gly1084Val)
3g.38579344C=CA1358574414SCN5Ac.3377G= (p.Gly1126=)
c.3380G= (p.Gly1127=)
c.3228+1587G= (n.3228+1587G=)
c.3251G= (p.Gly1084=)
3g.38579344C>GCA352138609SCN5Ac.3377G>C (p.Gly1126Ala)
c.3380G>C (p.Gly1127Ala)
c.3228+1587G>C (n.3228+1587G>C)
c.3251G>C (p.Gly1084Ala)
dbSNP
3g.38579344C>TCA352138610SCN5Ac.3377G>A (p.Gly1126Glu)
c.3380G>A (p.Gly1127Glu)
c.3228+1587G>A (n.3228+1587G>A)
c.3251G>A (p.Gly1084Glu)
ClinVar dbSNP gnomAD v4
3g.38579345C>ACA352138611SCN5Ac.3376G>T (p.Gly1126Trp)
c.3379G>T (p.Gly1127Trp)
c.3228+1586G>T (n.3228+1586G>T)
c.3250G>T (p.Gly1084Trp)
gnomAD v4
3g.38579345C>GCA352138612SCN5Ac.3376G>C (p.Gly1126Arg)
c.3379G>C (p.Gly1127Arg)
c.3228+1586G>C (n.3228+1586G>C)
c.3250G>C (p.Gly1084Arg)
3g.38579345C>TCA352138613SCN5Ac.3376G>A (p.Gly1126Arg)
c.3379G>A (p.Gly1127Arg)
c.3228+1586G>A (n.3228+1586G>A)
c.3250G>A (p.Gly1084Arg)
3g.38579346T>ACA433134376SCN5Ac.3375A>T (p.Pro1125=)
c.3378A>T (p.Pro1126=)
c.3228+1585A>T (n.3228+1585A>T)
c.3249A>T (p.Pro1083=)
3g.38579346T>CCA017102SCN5Ac.3375A>G (p.Pro1125=)
c.3378A>G (p.Pro1126=)
c.3228+1585A>G (n.3228+1585A>G)
c.3249A>G (p.Pro1083=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38579346T>GCA433134377SCN5Ac.3375A>C (p.Pro1125=)
c.3378A>C (p.Pro1126=)
c.3228+1585A>C (n.3228+1585A>C)
c.3249A>C (p.Pro1083=)
3g.38579346T=CA1358574416SCN5Ac.3375A= (p.Pro1125=)
c.3378A= (p.Pro1126=)
c.3228+1585A= (n.3228+1585A=)
c.3249A= (p.Pro1083=)
3g.38579347G>ACA352138614SCN5Ac.3374C>T (p.Pro1125Leu)
c.3377C>T (p.Pro1126Leu)
c.3228+1584C>T (n.3228+1584C>T)
c.3248C>T (p.Pro1083Leu)
gnomAD v4
3g.38579347G>CCA352138615SCN5Ac.3374C>G (p.Pro1125Arg)
c.3377C>G (p.Pro1126Arg)
c.3228+1584C>G (n.3228+1584C>G)
c.3248C>G (p.Pro1083Arg)
3g.38579347G>TCA352138616SCN5Ac.3374C>A (p.Pro1125Gln)
c.3377C>A (p.Pro1126Gln)
c.3228+1584C>A (n.3228+1584C>A)
c.3248C>A (p.Pro1083Gln)
3g.38579350delCA2665112779SCN5Ac.3374del (p.Pro1125GlnfsTer19)
c.3377del (p.Pro1126GlnfsTer19)
c.3228+1584del (n.3228+1584del)
c.3248del (p.Pro1083GlnfsTer19)
gnomAD v4
3g.38579348G>ACA352138617SCN5Ac.3373C>T (p.Pro1125Ser)
c.3376C>T (p.Pro1126Ser)
c.3228+1583C>T (n.3228+1583C>T)
c.3247C>T (p.Pro1083Ser)
gnomAD v4
3g.38579348G>CCA352138619SCN5Ac.3373C>G (p.Pro1125Ala)
c.3376C>G (p.Pro1126Ala)
c.3228+1583C>G (n.3228+1583C>G)
c.3247C>G (p.Pro1083Ala)
dbSNP
3g.38579348G=CA1358574418SCN5Ac.3373C= (p.Pro1125=)
c.3376C= (p.Pro1126=)
c.3228+1583C= (n.3228+1583C=)
c.3247C= (p.Pro1083=)
3g.38579348G>TCA352138618SCN5Ac.3373C>A (p.Pro1125Thr)
c.3376C>A (p.Pro1126Thr)
c.3228+1583C>A (n.3228+1583C>A)
c.3247C>A (p.Pro1083Thr)
gnomAD v4
3g.38579349G>ACA433134378SCN5Ac.3372C>T (p.Ala1124=)
c.3375C>T (p.Ala1125=)
c.3228+1582C>T (n.3228+1582C>T)
c.3246C>T (p.Ala1082=)
ClinVar gnomAD v4
3g.38579349G>CCA433134380SCN5Ac.3372C>G (p.Ala1124=)
c.3375C>G (p.Ala1125=)
c.3228+1582C>G (n.3228+1582C>G)
c.3246C>G (p.Ala1082=)
3g.38579349G>TCA433134379SCN5Ac.3372C>A (p.Ala1124=)
c.3375C>A (p.Ala1125=)
c.3228+1582C>A (n.3228+1582C>A)
c.3246C>A (p.Ala1082=)
3g.38579350G>ACA352138620SCN5Ac.3371C>T (p.Ala1124Val)
c.3374C>T (p.Ala1125Val)
c.3228+1581C>T (n.3228+1581C>T)
c.3245C>T (p.Ala1082Val)
dbSNP gnomAD v2 gnomAD v4
3g.38579350G>CCA017096SCN5Ac.3371C>G (p.Ala1124Gly)
c.3374C>G (p.Ala1125Gly)
c.3228+1581C>G (n.3228+1581C>G)
c.3245C>G (p.Ala1082Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38579350G=CA1358574420SCN5Ac.3371C= (p.Ala1124=)
c.3374C= (p.Ala1125=)
c.3228+1581C= (n.3228+1581C=)
c.3245C= (p.Ala1082=)

Number of alleles fetched