Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38579337A>C | CA433134373 | SCN5A | c.3384T>G (p.Gly1128=) c.3387T>G (p.Gly1129=) c.3228+1594T>G (n.3228+1594T>G) c.3258T>G (p.Gly1086=) | |
3 | g.38579337A>G | CA433134372 | SCN5A | c.3384T>C (p.Gly1128=) c.3387T>C (p.Gly1129=) c.3228+1594T>C (n.3228+1594T>C) c.3258T>C (p.Gly1086=) | |
3 | g.38579337A>T | CA433134371 | SCN5A | c.3384T>A (p.Gly1128=) c.3387T>A (p.Gly1129=) c.3228+1594T>A (n.3228+1594T>A) c.3258T>A (p.Gly1086=) | |
3 | g.38579338C>A | CA352138596 | SCN5A | c.3383G>T (p.Gly1128Val) c.3386G>T (p.Gly1129Val) c.3228+1593G>T (n.3228+1593G>T) c.3257G>T (p.Gly1086Val) | gnomAD v4 |
3 | g.38579338C>G | CA352138597 | SCN5A | c.3383G>C (p.Gly1128Ala) c.3386G>C (p.Gly1129Ala) c.3228+1593G>C (n.3228+1593G>C) c.3257G>C (p.Gly1086Ala) | |
3 | g.38579338C>T | CA352138598 | SCN5A | c.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 |
3 | g.38579339C>A | CA352138599 | SCN5A | c.3382G>T (p.Gly1128Cys) c.3385G>T (p.Gly1129Cys) c.3228+1592G>T (n.3228+1592G>T) c.3256G>T (p.Gly1086Cys) | gnomAD v4 |
3 | g.38579339C= | CA1358574406 | SCN5A | c.3382G= (p.Gly1128=) c.3385G= (p.Gly1129=) c.3228+1592G= (n.3228+1592G=) c.3256G= (p.Gly1086=) | |
3 | g.38579339C>G | CA352138600 | SCN5A | c.3382G>C (p.Gly1128Arg) c.3385G>C (p.Gly1129Arg) c.3228+1592G>C (n.3228+1592G>C) c.3256G>C (p.Gly1086Arg) | |
3 | g.38579339C>T | CA72925026 | SCN5A | c.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 |
3 | g.38579340G>A | CA10618417 | SCN5A | c.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 |
3 | g.38579340G>C | CA352138601 | SCN5A | c.3381C>G (p.Cys1127Trp) c.3384C>G (p.Cys1128Trp) c.3228+1591C>G (n.3228+1591C>G) c.3255C>G (p.Cys1085Trp) | |
3 | g.38579340G= | CA1358574408 | SCN5A | c.3381C= (p.Cys1127=) c.3384C= (p.Cys1128=) c.3228+1591C= (n.3228+1591C=) c.3255C= (p.Cys1085=) | |
3 | g.38579340G>T | CA061711 | SCN5A | c.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 |
3 | g.38579341C>A | CA352138603 | SCN5A | c.3380G>T (p.Cys1127Phe) c.3383G>T (p.Cys1128Phe) c.3228+1590G>T (n.3228+1590G>T) c.3254G>T (p.Cys1085Phe) | gnomAD v4 |
3 | g.38579341C>G | CA352138604 | SCN5A | c.3380G>C (p.Cys1127Ser) c.3383G>C (p.Cys1128Ser) c.3228+1590G>C (n.3228+1590G>C) c.3254G>C (p.Cys1085Ser) | |
3 | g.38579341C>T | CA352138602 | SCN5A | c.3380G>A (p.Cys1127Tyr) c.3383G>A (p.Cys1128Tyr) c.3228+1590G>A (n.3228+1590G>A) c.3254G>A (p.Cys1085Tyr) | gnomAD v4 |
3 | g.38579342A= | CA1358574410 | SCN5A | c.3379T= (p.Cys1127=) c.3382T= (p.Cys1128=) c.3228+1589T= (n.3228+1589T=) c.3253T= (p.Cys1085=) | |
3 | g.38579342A>C | CA352138607 | SCN5A | c.3379T>G (p.Cys1127Gly) c.3382T>G (p.Cys1128Gly) c.3228+1589T>G (n.3228+1589T>G) c.3253T>G (p.Cys1085Gly) | dbSNP |
3 | g.38579342A>G | CA352138605 | SCN5A | c.3379T>C (p.Cys1127Arg) c.3382T>C (p.Cys1128Arg) c.3228+1589T>C (n.3228+1589T>C) c.3253T>C (p.Cys1085Arg) | |
3 | g.38579342A>T | CA352138606 | SCN5A | c.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 |
3 | g.38579343C>A | CA433134374 | SCN5A | c.3378G>T (p.Gly1126=) c.3381G>T (p.Gly1127=) c.3228+1588G>T (n.3228+1588G>T) c.3252G>T (p.Gly1084=) | |
3 | g.38579343C= | CA1358574412 | SCN5A | c.3378G= (p.Gly1126=) c.3381G= (p.Gly1127=) c.3228+1588G= (n.3228+1588G=) c.3252G= (p.Gly1084=) | |
3 | g.38579343C>G | CA433134375 | SCN5A | c.3378G>C (p.Gly1126=) c.3381G>C (p.Gly1127=) c.3228+1588G>C (n.3228+1588G>C) c.3252G>C (p.Gly1084=) | |
3 | g.38579343C>T | CA72925032 | SCN5A | c.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 |
3 | g.38579344C>A | CA352138608 | SCN5A | c.3377G>T (p.Gly1126Val) c.3380G>T (p.Gly1127Val) c.3228+1587G>T (n.3228+1587G>T) c.3251G>T (p.Gly1084Val) | |
3 | g.38579344C= | CA1358574414 | SCN5A | c.3377G= (p.Gly1126=) c.3380G= (p.Gly1127=) c.3228+1587G= (n.3228+1587G=) c.3251G= (p.Gly1084=) | |
3 | g.38579344C>G | CA352138609 | SCN5A | c.3377G>C (p.Gly1126Ala) c.3380G>C (p.Gly1127Ala) c.3228+1587G>C (n.3228+1587G>C) c.3251G>C (p.Gly1084Ala) | dbSNP |
3 | g.38579344C>T | CA352138610 | SCN5A | c.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 |
3 | g.38579345C>A | CA352138611 | SCN5A | c.3376G>T (p.Gly1126Trp) c.3379G>T (p.Gly1127Trp) c.3228+1586G>T (n.3228+1586G>T) c.3250G>T (p.Gly1084Trp) | gnomAD v4 |
3 | g.38579345C>G | CA352138612 | SCN5A | c.3376G>C (p.Gly1126Arg) c.3379G>C (p.Gly1127Arg) c.3228+1586G>C (n.3228+1586G>C) c.3250G>C (p.Gly1084Arg) | |
3 | g.38579345C>T | CA352138613 | SCN5A | c.3376G>A (p.Gly1126Arg) c.3379G>A (p.Gly1127Arg) c.3228+1586G>A (n.3228+1586G>A) c.3250G>A (p.Gly1084Arg) | |
3 | g.38579346T>A | CA433134376 | SCN5A | c.3375A>T (p.Pro1125=) c.3378A>T (p.Pro1126=) c.3228+1585A>T (n.3228+1585A>T) c.3249A>T (p.Pro1083=) | |
3 | g.38579346T>C | CA017102 | SCN5A | c.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 |
3 | g.38579346T>G | CA433134377 | SCN5A | c.3375A>C (p.Pro1125=) c.3378A>C (p.Pro1126=) c.3228+1585A>C (n.3228+1585A>C) c.3249A>C (p.Pro1083=) | |
3 | g.38579346T= | CA1358574416 | SCN5A | c.3375A= (p.Pro1125=) c.3378A= (p.Pro1126=) c.3228+1585A= (n.3228+1585A=) c.3249A= (p.Pro1083=) | |
3 | g.38579347G>A | CA352138614 | SCN5A | c.3374C>T (p.Pro1125Leu) c.3377C>T (p.Pro1126Leu) c.3228+1584C>T (n.3228+1584C>T) c.3248C>T (p.Pro1083Leu) | gnomAD v4 |
3 | g.38579347G>C | CA352138615 | SCN5A | c.3374C>G (p.Pro1125Arg) c.3377C>G (p.Pro1126Arg) c.3228+1584C>G (n.3228+1584C>G) c.3248C>G (p.Pro1083Arg) | |
3 | g.38579347G>T | CA352138616 | SCN5A | c.3374C>A (p.Pro1125Gln) c.3377C>A (p.Pro1126Gln) c.3228+1584C>A (n.3228+1584C>A) c.3248C>A (p.Pro1083Gln) | |
3 | g.38579350del | CA2665112779 | SCN5A | c.3374del (p.Pro1125GlnfsTer19) c.3377del (p.Pro1126GlnfsTer19) c.3228+1584del (n.3228+1584del) c.3248del (p.Pro1083GlnfsTer19) | gnomAD v4 |
3 | g.38579348G>A | CA352138617 | SCN5A | c.3373C>T (p.Pro1125Ser) c.3376C>T (p.Pro1126Ser) c.3228+1583C>T (n.3228+1583C>T) c.3247C>T (p.Pro1083Ser) | gnomAD v4 |
3 | g.38579348G>C | CA352138619 | SCN5A | c.3373C>G (p.Pro1125Ala) c.3376C>G (p.Pro1126Ala) c.3228+1583C>G (n.3228+1583C>G) c.3247C>G (p.Pro1083Ala) | dbSNP |
3 | g.38579348G= | CA1358574418 | SCN5A | c.3373C= (p.Pro1125=) c.3376C= (p.Pro1126=) c.3228+1583C= (n.3228+1583C=) c.3247C= (p.Pro1083=) | |
3 | g.38579348G>T | CA352138618 | SCN5A | c.3373C>A (p.Pro1125Thr) c.3376C>A (p.Pro1126Thr) c.3228+1583C>A (n.3228+1583C>A) c.3247C>A (p.Pro1083Thr) | gnomAD v4 |
3 | g.38579349G>A | CA433134378 | SCN5A | c.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 |
3 | g.38579349G>C | CA433134380 | SCN5A | c.3372C>G (p.Ala1124=) c.3375C>G (p.Ala1125=) c.3228+1582C>G (n.3228+1582C>G) c.3246C>G (p.Ala1082=) | |
3 | g.38579349G>T | CA433134379 | SCN5A | c.3372C>A (p.Ala1124=) c.3375C>A (p.Ala1125=) c.3228+1582C>A (n.3228+1582C>A) c.3246C>A (p.Ala1082=) | |
3 | g.38579350G>A | CA352138620 | SCN5A | c.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 |
3 | g.38579350G>C | CA017096 | SCN5A | c.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 |
3 | g.38579350G= | CA1358574420 | SCN5A | c.3371C= (p.Ala1124=) c.3374C= (p.Ala1125=) c.3228+1581C= (n.3228+1581C=) c.3245C= (p.Ala1082=) |