| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38576759T>A | CA352138528 | SCN5A | c.3410A>T (p.Glu1137Val) c.3413A>T (p.Glu1138Val) c.3251A>T (p.Glu1084Val) c.3284A>T (p.Glu1095Val) | |
| 3 | g.38576759T>C | CA352138529 | SCN5A | c.3410A>G (p.Glu1137Gly) c.3413A>G (p.Glu1138Gly) c.3251A>G (p.Glu1084Gly) c.3284A>G (p.Glu1095Gly) | |
| 3 | g.38576759T>G | CA017144 | SCN5A | c.3410A>C (p.Glu1137Ala) c.3413A>C (p.Glu1138Ala) c.3251A>C (p.Glu1084Ala) c.3284A>C (p.Glu1095Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38576759T= | CA1358573188 | SCN5A | c.3410A= (p.Glu1137=) c.3413A= (p.Glu1138=) c.3251A= (p.Glu1084=) c.3284A= (p.Glu1095=) | |
| 3 | g.38576760C>A | CA352138530 | SCN5A | c.3409G>T (p.Glu1137Ter) c.3412G>T (p.Glu1138Ter) c.3250G>T (p.Glu1084Ter) c.3283G>T (p.Glu1095Ter) | dbSNP |
| 3 | g.38576760C= | CA1358573189 | SCN5A | c.3409G= (p.Glu1137=) c.3412G= (p.Glu1138=) c.3250G= (p.Glu1084=) c.3283G= (p.Glu1095=) | |
| 3 | g.38576760C>G | CA352138531 | SCN5A | c.3409G>C (p.Glu1137Gln) c.3412G>C (p.Glu1138Gln) c.3250G>C (p.Glu1084Gln) c.3283G>C (p.Glu1095Gln) | |
| 3 | g.38576760C>T | CA061821 | SCN5A | c.3409G>A (p.Glu1137Lys) c.3412G>A (p.Glu1138Lys) c.3250G>A (p.Glu1084Lys) c.3283G>A (p.Glu1095Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38576761G>A | CA017137 | SCN5A | c.3408C>T (p.Ser1136=) c.3411C>T (p.Ser1137=) c.3249C>T (p.Ser1083=) c.3282C>T (p.Ser1094=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38576761G>C | CA433134215 | SCN5A | c.3408C>G (p.Ser1136=) c.3411C>G (p.Ser1137=) c.3249C>G (p.Ser1083=) c.3282C>G (p.Ser1094=) | |
| 3 | g.38576761G= | CA1358573190 | SCN5A | c.3408C= (p.Ser1136=) c.3411C= (p.Ser1137=) c.3249C= (p.Ser1083=) c.3282C= (p.Ser1094=) | |
| 3 | g.38576761G>T | CA433134216 | SCN5A | c.3408C>A (p.Ser1136=) c.3411C>A (p.Ser1137=) c.3249C>A (p.Ser1083=) c.3282C>A (p.Ser1094=) | |
| 3 | g.38576762G>A | CA352138532 | SCN5A | c.3407C>T (p.Ser1136Phe) c.3410C>T (p.Ser1137Phe) c.3248C>T (p.Ser1083Phe) c.3281C>T (p.Ser1094Phe) | |
| 3 | g.38576762G>C | CA352138533 | SCN5A | c.3407C>G (p.Ser1136Cys) c.3410C>G (p.Ser1137Cys) c.3248C>G (p.Ser1083Cys) c.3281C>G (p.Ser1094Cys) | gnomAD v4 |
| 3 | g.38576762G>T | CA352138534 | SCN5A | c.3407C>A (p.Ser1136Tyr) c.3410C>A (p.Ser1137Tyr) c.3248C>A (p.Ser1083Tyr) c.3281C>A (p.Ser1094Tyr) | |
| 3 | g.38576763A>C | CA352138535 | SCN5A | c.3406T>G (p.Ser1136Ala) c.3409T>G (p.Ser1137Ala) c.3247T>G (p.Ser1083Ala) c.3280T>G (p.Ser1094Ala) | |
| 3 | g.38576763A>G | CA352138536 | SCN5A | c.3406T>C (p.Ser1136Pro) c.3409T>C (p.Ser1137Pro) c.3247T>C (p.Ser1083Pro) c.3280T>C (p.Ser1094Pro) | |
| 3 | g.38576763A>T | CA352138537 | SCN5A | c.3406T>A (p.Ser1136Thr) c.3409T>A (p.Ser1137Thr) c.3247T>A (p.Ser1083Thr) c.3280T>A (p.Ser1094Thr) | |
| 3 | g.38576764G>A | CA433134217 | SCN5A | c.3405C>T (p.Cys1135=) c.3408C>T (p.Cys1136=) c.3246C>T (p.Cys1082=) c.3279C>T (p.Cys1093=) | gnomAD v4 |
| 3 | g.38576764G>C | CA352138538 | SCN5A | c.3405C>G (p.Cys1135Trp) c.3408C>G (p.Cys1136Trp) c.3246C>G (p.Cys1082Trp) c.3279C>G (p.Cys1093Trp) | |
| 3 | g.38576764G= | CA1358573191 | SCN5A | c.3405C= (p.Cys1135=) c.3408C= (p.Cys1136=) c.3246C= (p.Cys1082=) c.3279C= (p.Cys1093=) | |
| 3 | g.38576764G>T | CA352138539 | SCN5A | c.3405C>A (p.Cys1135Ter) c.3408C>A (p.Cys1136Ter) c.3246C>A (p.Cys1082Ter) c.3279C>A (p.Cys1093Ter) | dbSNP |
| 3 | g.38576765C>A | CA352138540 | SCN5A | c.3404G>T (p.Cys1135Phe) c.3407G>T (p.Cys1136Phe) c.3245G>T (p.Cys1082Phe) c.3278G>T (p.Cys1093Phe) | |
| 3 | g.38576765C= | CA1358573192 | SCN5A | c.3404G= (p.Cys1135=) c.3407G= (p.Cys1136=) c.3245G= (p.Cys1082=) c.3278G= (p.Cys1093=) | |
| 3 | g.38576765C>G | CA352138541 | SCN5A | c.3404G>C (p.Cys1135Ser) c.3407G>C (p.Cys1136Ser) c.3245G>C (p.Cys1082Ser) c.3278G>C (p.Cys1093Ser) | |
| 3 | g.38576765C>T | CA352138542 | SCN5A | c.3404G>A (p.Cys1135Tyr) c.3407G>A (p.Cys1136Tyr) c.3245G>A (p.Cys1082Tyr) c.3278G>A (p.Cys1093Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38576766A>C | CA352138543 | SCN5A | c.3403T>G (p.Cys1135Gly) c.3406T>G (p.Cys1136Gly) c.3244T>G (p.Cys1082Gly) c.3277T>G (p.Cys1093Gly) | |
| 3 | g.38576766A>G | CA352138544 | SCN5A | c.3403T>C (p.Cys1135Arg) c.3406T>C (p.Cys1136Arg) c.3244T>C (p.Cys1082Arg) c.3277T>C (p.Cys1093Arg) | |
| 3 | g.38576766A>T | CA352138545 | SCN5A | c.3403T>A (p.Cys1135Ser) c.3406T>A (p.Cys1136Ser) c.3244T>A (p.Cys1082Ser) c.3277T>A (p.Cys1093Ser) | |
| 3 | g.38576767A>C | CA352138546 | SCN5A | c.3402T>G (p.Ser1134Arg) c.3405T>G (p.Ser1135Arg) c.3243T>G (p.Ser1081Arg) c.3276T>G (p.Ser1092Arg) | |
| 3 | g.38576767A>G | CA433134218 | SCN5A | c.3402T>C (p.Ser1134=) c.3405T>C (p.Ser1135=) c.3243T>C (p.Ser1081=) c.3276T>C (p.Ser1092=) | gnomAD v4 |
| 3 | g.38576767A>T | CA352138547 | SCN5A | c.3402T>A (p.Ser1134Arg) c.3405T>A (p.Ser1135Arg) c.3243T>A (p.Ser1081Arg) c.3276T>A (p.Ser1092Arg) | |
| 3 | g.38576768C>A | CA017130 | SCN5A | c.3401G>T (p.Ser1134Ile) c.3404G>T (p.Ser1135Ile) c.3242G>T (p.Ser1081Ile) c.3275G>T (p.Ser1092Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38576768C= | CA1358573193 | SCN5A | c.3401G= (p.Ser1134=) c.3404G= (p.Ser1135=) c.3242G= (p.Ser1081=) c.3275G= (p.Ser1092=) | |
| 3 | g.38576768C>G | CA352138548 | SCN5A | c.3401G>C (p.Ser1134Thr) c.3404G>C (p.Ser1135Thr) c.3242G>C (p.Ser1081Thr) c.3275G>C (p.Ser1092Thr) | ClinVar dbSNP |
| 3 | g.38576768C>T | CA352138549 | SCN5A | c.3401G>A (p.Ser1134Asn) c.3404G>A (p.Ser1135Asn) c.3242G>A (p.Ser1081Asn) c.3275G>A (p.Ser1092Asn) | ClinVar |
| 3 | g.38576769T>A | CA352138552 | SCN5A | c.3400A>T (p.Ser1134Cys) c.3403A>T (p.Ser1135Cys) c.3241A>T (p.Ser1081Cys) c.3274A>T (p.Ser1092Cys) | |
| 3 | g.38576769T>C | CA352138551 | SCN5A | c.3400A>G (p.Ser1134Gly) c.3403A>G (p.Ser1135Gly) c.3241A>G (p.Ser1081Gly) c.3274A>G (p.Ser1092Gly) | |
| 3 | g.38576769T>G | CA352138550 | SCN5A | c.3400A>C (p.Ser1134Arg) c.3403A>C (p.Ser1135Arg) c.3241A>C (p.Ser1081Arg) c.3274A>C (p.Ser1092Arg) | |
| 3 | g.38576770G>A | CA433134219 | SCN5A | c.3399C>T (p.Asp1133=) c.3402C>T (p.Asp1134=) c.3240C>T (p.Asp1080=) c.3273C>T (p.Asp1091=) | gnomAD v4 |
| 3 | g.38576770G>C | CA352138553 | SCN5A | c.3399C>G (p.Asp1133Glu) c.3402C>G (p.Asp1134Glu) c.3240C>G (p.Asp1080Glu) c.3273C>G (p.Asp1091Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38576770G= | CA1358573194 | SCN5A | c.3399C= (p.Asp1133=) c.3402C= (p.Asp1134=) c.3240C= (p.Asp1080=) c.3273C= (p.Asp1091=) | |
| 3 | g.38576770G>T | CA352138554 | SCN5A | c.3399C>A (p.Asp1133Glu) c.3402C>A (p.Asp1134Glu) c.3240C>A (p.Asp1080Glu) c.3273C>A (p.Asp1091Glu) | |
| 3 | g.38576771T>A | CA352138555 | SCN5A | c.3398A>T (p.Asp1133Val) c.3401A>T (p.Asp1134Val) c.3239A>T (p.Asp1080Val) c.3272A>T (p.Asp1091Val) | |
| 3 | g.38576771T>C | CA352138556 | SCN5A | c.3398A>G (p.Asp1133Gly) c.3401A>G (p.Asp1134Gly) c.3239A>G (p.Asp1080Gly) c.3272A>G (p.Asp1091Gly) | |
| 3 | g.38576771T>G | CA352138557 | SCN5A | c.3398A>C (p.Asp1133Ala) c.3401A>C (p.Asp1134Ala) c.3239A>C (p.Asp1080Ala) c.3272A>C (p.Asp1091Ala) | |
| 3 | g.38576772C>A | CA352138558 | SCN5A | c.3397G>T (p.Asp1133Tyr) c.3400G>T (p.Asp1134Tyr) c.3238G>T (p.Asp1080Tyr) c.3271G>T (p.Asp1091Tyr) | |
| 3 | g.38576772C= | CA1358573195 | SCN5A | c.3397G= (p.Asp1133=) c.3400G= (p.Asp1134=) c.3238G= (p.Asp1080=) c.3271G= (p.Asp1091=) | |
| 3 | g.38576772C>G | CA352138559 | SCN5A | c.3397G>C (p.Asp1133His) c.3400G>C (p.Asp1134His) c.3238G>C (p.Asp1080His) c.3271G>C (p.Asp1091His) | |
| 3 | g.38576772C>T | CA061807 | SCN5A | c.3397G>A (p.Asp1133Asn) c.3400G>A (p.Asp1134Asn) c.3238G>A (p.Asp1080Asn) c.3271G>A (p.Asp1091Asn) | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |