| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38579425G>A | CA017023 | SCN5A | c.3296C>T (p.Ala1099Val) c.3299C>T (p.Ala1100Val) c.3228+1506C>T (n.3228+1506C>T) c.3170C>T (p.Ala1057Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579425G>C | CA352138779 | SCN5A | c.3296C>G (p.Ala1099Gly) c.3299C>G (p.Ala1100Gly) c.3228+1506C>G (n.3228+1506C>G) c.3170C>G (p.Ala1057Gly) | |
| 3 | g.38579425G= | CA1358574504 | SCN5A | c.3296C= (p.Ala1099=) c.3299C= (p.Ala1100=) c.3228+1506C= (n.3228+1506C=) c.3170C= (p.Ala1057=) | |
| 3 | g.38579425G>T | CA352138780 | SCN5A | c.3296C>A (p.Ala1099Glu) c.3299C>A (p.Ala1100Glu) c.3228+1506C>A (n.3228+1506C>A) c.3170C>A (p.Ala1057Glu) | |
| 3 | g.38579426C>A | CA352138781 | SCN5A | c.3295G>T (p.Ala1099Ser) c.3298G>T (p.Ala1100Ser) c.3228+1505G>T (n.3228+1505G>T) c.3169G>T (p.Ala1057Ser) | |
| 3 | g.38579426C= | CA1358574506 | SCN5A | c.3295G= (p.Ala1099=) c.3298G= (p.Ala1100=) c.3228+1505G= (n.3228+1505G=) c.3169G= (p.Ala1057=) | |
| 3 | g.38579426C>G | CA352138782 | SCN5A | c.3295G>C (p.Ala1099Pro) c.3298G>C (p.Ala1100Pro) c.3228+1505G>C (n.3228+1505G>C) c.3169G>C (p.Ala1057Pro) | |
| 3 | g.38579426C>T | CA061574 | SCN5A | c.3295G>A (p.Ala1099Thr) c.3298G>A (p.Ala1100Thr) c.3228+1505G>A (n.3228+1505G>A) c.3169G>A (p.Ala1057Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579427T>A | CA433134432 | SCN5A | c.3294A>T (p.Ser1098=) c.3297A>T (p.Ser1099=) c.3228+1504A>T (n.3228+1504A>T) c.3168A>T (p.Ser1056=) | |
| 3 | g.38579427T>C | CA433134431 | SCN5A | c.3294A>G (p.Ser1098=) c.3297A>G (p.Ser1099=) c.3228+1504A>G (n.3228+1504A>G) c.3168A>G (p.Ser1056=) | ClinVar dbSNP |
| 3 | g.38579427T>G | CA433134430 | SCN5A | c.3294A>C (p.Ser1098=) c.3297A>C (p.Ser1099=) c.3228+1504A>C (n.3228+1504A>C) c.3168A>C (p.Ser1056=) | |
| 3 | g.38579428G>A | CA352138783 | SCN5A | c.3293C>T (p.Ser1098Leu) c.3296C>T (p.Ser1099Leu) c.3228+1503C>T (n.3228+1503C>T) c.3167C>T (p.Ser1056Leu) | gnomAD v4 |
| 3 | g.38579428G>C | CA352138784 | SCN5A | c.3293C>G (p.Ser1098Ter) c.3296C>G (p.Ser1099Ter) c.3228+1503C>G (n.3228+1503C>G) c.3167C>G (p.Ser1056Ter) | |
| 3 | g.38579428G>T | CA352138785 | SCN5A | c.3293C>A (p.Ser1098Ter) c.3296C>A (p.Ser1099Ter) c.3228+1503C>A (n.3228+1503C>A) c.3167C>A (p.Ser1056Ter) | |
| 3 | g.38579429A>C | CA352138788 | SCN5A | c.3292T>G (p.Ser1098Ala) c.3295T>G (p.Ser1099Ala) c.3228+1502T>G (n.3228+1502T>G) c.3166T>G (p.Ser1056Ala) | |
| 3 | g.38579429A>G | CA352138786 | SCN5A | c.3292T>C (p.Ser1098Pro) c.3295T>C (p.Ser1099Pro) c.3228+1502T>C (n.3228+1502T>C) c.3166T>C (p.Ser1056Pro) | |
| 3 | g.38579429A>T | CA352138787 | SCN5A | c.3292T>A (p.Ser1098Thr) c.3295T>A (p.Ser1099Thr) c.3228+1502T>A (n.3228+1502T>A) c.3166T>A (p.Ser1056Thr) | |
| 3 | g.38579430C>A | CA433134435 | SCN5A | c.3291G>T (p.Val1097=) c.3294G>T (p.Val1098=) c.3228+1501G>T (n.3228+1501G>T) c.3165G>T (p.Val1055=) | |
| 3 | g.38579430C= | CA1358574508 | SCN5A | c.3291G= (p.Val1097=) c.3294G= (p.Val1098=) c.3228+1501G= (n.3228+1501G=) c.3165G= (p.Val1055=) | |
| 3 | g.38579430C>G | CA433134436 | SCN5A | c.3291G>C (p.Val1097=) c.3294G>C (p.Val1098=) c.3228+1501G>C (n.3228+1501G>C) c.3165G>C (p.Val1055=) | |
| 3 | g.38579430C>T | CA433134437 | SCN5A | c.3291G>A (p.Val1097=) c.3294G>A (p.Val1098=) c.3228+1501G>A (n.3228+1501G>A) c.3165G>A (p.Val1055=) | dbSNP |
| 3 | g.38579431A= | CA1358574509 | SCN5A | c.3290T= (p.Val1097=) c.3293T= (p.Val1098=) c.3228+1500T= (n.3228+1500T=) c.3164T= (p.Val1055=) | |
| 3 | g.38579431A>C | CA352138789 | SCN5A | c.3290T>G (p.Val1097Gly) c.3293T>G (p.Val1098Gly) c.3228+1500T>G (n.3228+1500T>G) c.3164T>G (p.Val1055Gly) | dbSNP |
| 3 | g.38579431A>G | CA352138790 | SCN5A | c.3290T>C (p.Val1097Ala) c.3293T>C (p.Val1098Ala) c.3228+1500T>C (n.3228+1500T>C) c.3164T>C (p.Val1055Ala) | |
| 3 | g.38579431A>T | CA352138791 | SCN5A | c.3290T>A (p.Val1097Glu) c.3293T>A (p.Val1098Glu) c.3228+1500T>A (n.3228+1500T>A) c.3164T>A (p.Val1055Glu) | |
| 3 | g.38579432C>A | CA017002 | SCN5A | c.3289G>T (p.Val1097Leu) c.3292G>T (p.Val1098Leu) c.3228+1499G>T (n.3228+1499G>T) c.3163G>T (p.Val1055Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579432C= | CA1358574511 | SCN5A | c.3289G= (p.Val1097=) c.3292G= (p.Val1098=) c.3228+1499G= (n.3228+1499G=) c.3163G= (p.Val1055=) | |
| 3 | g.38579432C>G | CA352138792 | SCN5A | c.3289G>C (p.Val1097Leu) c.3292G>C (p.Val1098Leu) c.3228+1499G>C (n.3228+1499G>C) c.3163G>C (p.Val1055Leu) | |
| 3 | g.38579432C>T | CA352138793 | SCN5A | c.3289G>A (p.Val1097Met) c.3292G>A (p.Val1098Met) c.3228+1499G>A (n.3228+1499G>A) c.3163G>A (p.Val1055Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579433C>A | CA352138794 | SCN5A | c.3288G>T (p.Gln1096His) c.3291G>T (p.Gln1097His) c.3228+1498G>T (n.3228+1498G>T) c.3162G>T (p.Gln1054His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38579433C= | CA1358574513 | SCN5A | c.3288G= (p.Gln1096=) c.3291G= (p.Gln1097=) c.3228+1498G= (n.3228+1498G=) c.3162G= (p.Gln1054=) | |
| 3 | g.38579433C>G | CA352138795 | SCN5A | c.3288G>C (p.Gln1096His) c.3291G>C (p.Gln1097His) c.3228+1498G>C (n.3228+1498G>C) c.3162G>C (p.Gln1054His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38579433C>T | CA433134439 | SCN5A | c.3288G>A (p.Gln1096=) c.3291G>A (p.Gln1097=) c.3228+1498G>A (n.3228+1498G>A) c.3162G>A (p.Gln1054=) | gnomAD v4 |
| 3 | g.38579434T>A | CA352138796 | SCN5A | c.3287A>T (p.Gln1096Leu) c.3290A>T (p.Gln1097Leu) c.3228+1497A>T (n.3228+1497A>T) c.3161A>T (p.Gln1054Leu) | |
| 3 | g.38579434T>C | CA352138797 | SCN5A | c.3287A>G (p.Gln1096Arg) c.3290A>G (p.Gln1097Arg) c.3228+1497A>G (n.3228+1497A>G) c.3161A>G (p.Gln1054Arg) | gnomAD v4 |
| 3 | g.38579434T>G | CA352138798 | SCN5A | c.3287A>C (p.Gln1096Pro) c.3290A>C (p.Gln1097Pro) c.3228+1497A>C (n.3228+1497A>C) c.3161A>C (p.Gln1054Pro) | |
| 3 | g.38579435G>A | CA352138801 | SCN5A | c.3286C>T (p.Gln1096Ter) c.3289C>T (p.Gln1097Ter) c.3228+1496C>T (n.3228+1496C>T) c.3160C>T (p.Gln1054Ter) | |
| 3 | g.38579435G>C | CA352138800 | SCN5A | c.3286C>G (p.Gln1096Glu) c.3289C>G (p.Gln1097Glu) c.3228+1496C>G (n.3228+1496C>G) c.3160C>G (p.Gln1054Glu) | |
| 3 | g.38579435G>T | CA352138799 | SCN5A | c.3286C>A (p.Gln1096Lys) c.3289C>A (p.Gln1097Lys) c.3228+1496C>A (n.3228+1496C>A) c.3160C>A (p.Gln1054Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38579436G>A | CA433134440 | SCN5A | c.3285C>T (p.Ser1095=) c.3288C>T (p.Ser1096=) c.3228+1495C>T (n.3228+1495C>T) c.3159C>T (p.Ser1053=) | |
| 3 | g.38579436G>C | CA352138802 | SCN5A | c.3285C>G (p.Ser1095Arg) c.3288C>G (p.Ser1096Arg) c.3228+1495C>G (n.3228+1495C>G) c.3159C>G (p.Ser1053Arg) | |
| 3 | g.38579436G>T | CA352138803 | SCN5A | c.3285C>A (p.Ser1095Arg) c.3288C>A (p.Ser1096Arg) c.3228+1495C>A (n.3228+1495C>A) c.3159C>A (p.Ser1053Arg) | |
| 3 | g.38579437C>A | CA352138804 | SCN5A | c.3284G>T (p.Ser1095Ile) c.3287G>T (p.Ser1096Ile) c.3228+1494G>T (n.3228+1494G>T) c.3158G>T (p.Ser1053Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38579437C= | CA1358574515 | SCN5A | c.3284G= (p.Ser1095=) c.3287G= (p.Ser1096=) c.3228+1494G= (n.3228+1494G=) c.3158G= (p.Ser1053=) | |
| 3 | g.38579437C>G | CA352138805 | SCN5A | c.3284G>C (p.Ser1095Thr) c.3287G>C (p.Ser1096Thr) c.3228+1494G>C (n.3228+1494G>C) c.3158G>C (p.Ser1053Thr) | |
| 3 | g.38579437C>T | CA352138806 | SCN5A | c.3284G>A (p.Ser1095Asn) c.3287G>A (p.Ser1096Asn) c.3228+1494G>A (n.3228+1494G>A) c.3158G>A (p.Ser1053Asn) | |
| 3 | g.38579438T>A | CA352138809 | SCN5A | c.3283A>T (p.Ser1095Cys) c.3286A>T (p.Ser1096Cys) c.3228+1493A>T (n.3228+1493A>T) c.3157A>T (p.Ser1053Cys) | dbSNP gnomAD v2 |
| 3 | g.38579438T>C | CA352138808 | SCN5A | c.3283A>G (p.Ser1095Gly) c.3286A>G (p.Ser1096Gly) c.3228+1493A>G (n.3228+1493A>G) c.3157A>G (p.Ser1053Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38579438T>G | CA352138807 | SCN5A | c.3283A>C (p.Ser1095Arg) c.3286A>C (p.Ser1096Arg) c.3228+1493A>C (n.3228+1493A>C) c.3157A>C (p.Ser1053Arg) | |
| 3 | g.38579438T= | CA1358574516 | SCN5A | c.3283A= (p.Ser1095=) c.3286A= (p.Ser1096=) c.3228+1493A= (n.3228+1493A=) c.3157A= (p.Ser1053=) |