Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560102C>A | CA2665111470 | SCN5A | c.4242+45G>T (n.4242+45G>T) c.4245+45G>T (n.4245+45G>T) c.4083+45G>T (n.4083+45G>T) c.4116+45G>T (n.4116+45G>T) | gnomAD v4 |
3 | g.38560103A>G | CA2702484205 | SCN5A | c.4242+44T>C (n.4242+44T>C) c.4245+44T>C (n.4245+44T>C) c.4083+44T>C (n.4083+44T>C) c.4116+44T>C (n.4116+44T>C) | dbSNP |
3 | g.38560104A= | CA1358565622 | SCN5A | c.4242+43T= (n.4242+43T=) c.4245+43T= (n.4245+43T=) c.4083+43T= (n.4083+43T=) c.4116+43T= (n.4116+43T=) | |
3 | g.38560104A>C | CA72944667 | SCN5A | c.4242+43T>G (n.4242+43T>G) c.4245+43T>G (n.4245+43T>G) c.4083+43T>G (n.4083+43T>G) c.4116+43T>G (n.4116+43T>G) | dbSNP |
3 | g.38560104A>G | CA542270304 | SCN5A | c.4242+43T>C (n.4242+43T>C) c.4245+43T>C (n.4245+43T>C) c.4083+43T>C (n.4083+43T>C) c.4116+43T>C (n.4116+43T>C) | dbSNP gnomAD v2 |
3 | g.38560105C>A | CA542270305 | SCN5A | c.4242+42G>T (n.4242+42G>T) c.4245+42G>T (n.4245+42G>T) c.4083+42G>T (n.4083+42G>T) c.4116+42G>T (n.4116+42G>T) | dbSNP gnomAD v2 |
3 | g.38560105C= | CA1358565623 | SCN5A | c.4242+42G= (n.4242+42G=) c.4245+42G= (n.4245+42G=) c.4083+42G= (n.4083+42G=) c.4116+42G= (n.4116+42G=) | |
3 | g.38560105C>T | CA1046994180 | SCN5A | c.4242+42G>A (n.4242+42G>A) c.4245+42G>A (n.4245+42G>A) c.4083+42G>A (n.4083+42G>A) c.4116+42G>A (n.4116+42G>A) | dbSNP |
3 | g.38560107G>T | CA2665111471 | SCN5A | c.4242+40C>A (n.4242+40C>A) c.4245+40C>A (n.4245+40C>A) c.4083+40C>A (n.4083+40C>A) c.4116+40C>A (n.4116+40C>A) | gnomAD v4 |
3 | g.38560108C>A | CA2665111472 | SCN5A | c.4242+39G>T (n.4242+39G>T) c.4245+39G>T (n.4245+39G>T) c.4083+39G>T (n.4083+39G>T) c.4116+39G>T (n.4116+39G>T) | gnomAD v4 |
3 | g.38560109C>T | CA2665111473 | SCN5A | c.4242+38G>A (n.4242+38G>A) c.4245+38G>A (n.4245+38G>A) c.4083+38G>A (n.4083+38G>A) c.4116+38G>A (n.4116+38G>A) | gnomAD v4 |
3 | g.38560110del | CA2665111474 | SCN5A | c.4242+37del (n.4242+37del) c.4245+37del (n.4245+37del) c.4083+37del (n.4083+37del) c.4116+37del (n.4116+37del) | gnomAD v4 |
3 | g.38560110A= | CA1358565624 | SCN5A | c.4242+37T= (n.4242+37T=) c.4245+37T= (n.4245+37T=) c.4083+37T= (n.4083+37T=) c.4116+37T= (n.4116+37T=) | |
3 | g.38560110A>G | CA542270306 | SCN5A | c.4242+37T>C (n.4242+37T>C) c.4245+37T>C (n.4245+37T>C) c.4083+37T>C (n.4083+37T>C) c.4116+37T>C (n.4116+37T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560110A>T | CA542270307 | SCN5A | c.4242+37T>A (n.4242+37T>A) c.4245+37T>A (n.4245+37T>A) c.4083+37T>A (n.4083+37T>A) c.4116+37T>A (n.4116+37T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560111T>C | CA062971 | SCN5A | c.4242+36A>G (n.4242+36A>G) c.4245+36A>G (n.4245+36A>G) c.4083+36A>G (n.4083+36A>G) c.4116+36A>G (n.4116+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560111T= | CA1358565625 | SCN5A | c.4242+36A= (n.4242+36A=) c.4245+36A= (n.4245+36A=) c.4083+36A= (n.4083+36A=) c.4116+36A= (n.4116+36A=) | |
3 | g.38560112T>G | CA062967 | SCN5A | c.4242+35A>C (n.4242+35A>C) c.4245+35A>C (n.4245+35A>C) c.4083+35A>C (n.4083+35A>C) c.4116+35A>C (n.4116+35A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560112T= | CA1358565626 | SCN5A | c.4242+35A= (n.4242+35A=) c.4245+35A= (n.4245+35A=) c.4083+35A= (n.4083+35A=) c.4116+35A= (n.4116+35A=) | |
3 | g.38560113G>T | CA2665111476 | SCN5A | c.4242+34C>A (n.4242+34C>A) c.4245+34C>A (n.4245+34C>A) c.4083+34C>A (n.4083+34C>A) c.4116+34C>A (n.4116+34C>A) | gnomAD v4 |
3 | g.38560115del | CA2665111475 | SCN5A | c.4242+34del (n.4242+34del) c.4245+34del (n.4245+34del) c.4083+34del (n.4083+34del) c.4116+34del (n.4116+34del) | gnomAD v4 |
3 | g.38560114G>A | CA2665111477 | SCN5A | c.4242+33C>T (n.4242+33C>T) c.4245+33C>T (n.4245+33C>T) c.4083+33C>T (n.4083+33C>T) c.4116+33C>T (n.4116+33C>T) | gnomAD v4 |
3 | g.38560115G>T | CA2665111478 | SCN5A | c.4242+32C>A (n.4242+32C>A) c.4245+32C>A (n.4245+32C>A) c.4083+32C>A (n.4083+32C>A) c.4116+32C>A (n.4116+32C>A) | gnomAD v4 |
3 | g.38560115_38560119delinsGAGGA | CA1358565627 | SCN5A | c.4242+28_4242+32delinsTCCTC (n.4242+28_4242+32delinsTCCTC) c.4245+28_4245+32delinsTCCTC (n.4245+28_4245+32delinsTCCTC) c.4083+28_4083+32delinsTCCTC (n.4083+28_4083+32delinsTCCTC) c.4116+28_4116+32delinsTCCTC (n.4116+28_4116+32delinsTCCTC) | |
3 | g.38560116A= | CA1358565629 | SCN5A | c.4242+31T= (n.4242+31T=) c.4245+31T= (n.4245+31T=) c.4083+31T= (n.4083+31T=) c.4116+31T= (n.4116+31T=) | |
3 | g.38560116A>C | CA1358565628 | SCN5A | c.4242+31T>G (n.4242+31T>G) c.4245+31T>G (n.4245+31T>G) c.4083+31T>G (n.4083+31T>G) c.4116+31T>G (n.4116+31T>G) | dbSNP gnomAD v4 |
3 | g.38560122_38560125del | CA906899840 | SCN5A | c.4242+28_4242+31del (n.4242+28_4242+31del) c.4245+28_4245+31del (n.4245+28_4245+31del) c.4083+28_4083+31del (n.4083+28_4083+31del) c.4116+28_4116+31del (n.4116+28_4116+31del) | dbSNP |
3 | g.38560117G>A | CA72944669 | SCN5A | c.4242+30C>T (n.4242+30C>T) c.4245+30C>T (n.4245+30C>T) c.4083+30C>T (n.4083+30C>T) c.4116+30C>T (n.4116+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560117G= | CA1358565630 | SCN5A | c.4242+30C= (n.4242+30C=) c.4245+30C= (n.4245+30C=) c.4083+30C= (n.4083+30C=) c.4116+30C= (n.4116+30C=) | |
3 | g.38560117G>T | CA2665111479 | SCN5A | c.4242+30C>A (n.4242+30C>A) c.4245+30C>A (n.4245+30C>A) c.4083+30C>A (n.4083+30C>A) c.4116+30C>A (n.4116+30C>A) | gnomAD v4 |
3 | g.38560118G>A | CA542270308 | SCN5A | c.4242+29C>T (n.4242+29C>T) c.4245+29C>T (n.4245+29C>T) c.4083+29C>T (n.4083+29C>T) c.4116+29C>T (n.4116+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560118G= | CA1358565631 | SCN5A | c.4242+29C= (n.4242+29C=) c.4245+29C= (n.4245+29C=) c.4083+29C= (n.4083+29C=) c.4116+29C= (n.4116+29C=) | |
3 | g.38560119A>G | CA2665111480 | SCN5A | c.4242+28T>C (n.4242+28T>C) c.4245+28T>C (n.4245+28T>C) c.4083+28T>C (n.4083+28T>C) c.4116+28T>C (n.4116+28T>C) | gnomAD v4 |
3 | g.38560120A>G | CA2665111481 | SCN5A | c.4242+27T>C (n.4242+27T>C) c.4245+27T>C (n.4245+27T>C) c.4083+27T>C (n.4083+27T>C) c.4116+27T>C (n.4116+27T>C) | gnomAD v4 |
3 | g.38560121G>A | CA1046994181 | SCN5A | c.4242+26C>T (n.4242+26C>T) c.4245+26C>T (n.4245+26C>T) c.4083+26C>T (n.4083+26C>T) c.4116+26C>T (n.4116+26C>T) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560121G= | CA1358565632 | SCN5A | c.4242+26C= (n.4242+26C=) c.4245+26C= (n.4245+26C=) c.4083+26C= (n.4083+26C=) c.4116+26C= (n.4116+26C=) | |
3 | g.38560121G>T | CA2665111482 | SCN5A | c.4242+26C>A (n.4242+26C>A) c.4245+26C>A (n.4245+26C>A) c.4083+26C>A (n.4083+26C>A) c.4116+26C>A (n.4116+26C>A) | gnomAD v4 |
3 | g.38560122G>T | CA2665111483 | SCN5A | c.4242+25C>A (n.4242+25C>A) c.4245+25C>A (n.4245+25C>A) c.4083+25C>A (n.4083+25C>A) c.4116+25C>A (n.4116+25C>A) | gnomAD v4 |
3 | g.38560124A>T | CA2665111484 | SCN5A | c.4242+23T>A (n.4242+23T>A) c.4245+23T>A (n.4245+23T>A) c.4083+23T>A (n.4083+23T>A) c.4116+23T>A (n.4116+23T>A) | gnomAD v4 |
3 | g.38560125G>T | CA2665111485 | SCN5A | c.4242+22C>A (n.4242+22C>A) c.4245+22C>A (n.4245+22C>A) c.4083+22C>A (n.4083+22C>A) c.4116+22C>A (n.4116+22C>A) | gnomAD v4 |
3 | g.38560126T>C | CA542270309 | SCN5A | c.4242+21A>G (n.4242+21A>G) c.4245+21A>G (n.4245+21A>G) c.4083+21A>G (n.4083+21A>G) c.4116+21A>G (n.4116+21A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560126T= | CA1358565633 | SCN5A | c.4242+21A= (n.4242+21A=) c.4245+21A= (n.4245+21A=) c.4083+21A= (n.4083+21A=) c.4116+21A= (n.4116+21A=) | |
3 | g.38560128C= | CA1358565634 | SCN5A | c.4242+19G= (n.4242+19G=) c.4245+19G= (n.4245+19G=) c.4083+19G= (n.4083+19G=) c.4116+19G= (n.4116+19G=) | |
3 | g.38560128C>G | CA16604467 | SCN5A | c.4242+19G>C (n.4242+19G>C) c.4245+19G>C (n.4245+19G>C) c.4083+19G>C (n.4083+19G>C) c.4116+19G>C (n.4116+19G>C) | ClinVar dbSNP |
3 | g.38560128C>T | CA062963 | SCN5A | c.4242+19G>A (n.4242+19G>A) c.4245+19G>A (n.4245+19G>A) c.4083+19G>A (n.4083+19G>A) c.4116+19G>A (n.4116+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560129C>T | CA2739278199 | SCN5A | c.4242+18G>A (n.4242+18G>A) c.4245+18G>A (n.4245+18G>A) c.4083+18G>A (n.4083+18G>A) c.4116+18G>A (n.4116+18G>A) | ClinVar |
3 | g.38560132C>G | CA2577553099 | SCN5A | c.4242+15G>C (n.4242+15G>C) c.4245+15G>C (n.4245+15G>C) c.4083+15G>C (n.4083+15G>C) c.4116+15G>C (n.4116+15G>C) | ClinVar |
3 | g.38560134C>A | CA062958 | SCN5A | c.4242+13G>T (n.4242+13G>T) c.4245+13G>T (n.4245+13G>T) c.4083+13G>T (n.4083+13G>T) c.4116+13G>T (n.4116+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560134C= | CA1358565635 | SCN5A | c.4242+13G= (n.4242+13G=) c.4245+13G= (n.4245+13G=) c.4083+13G= (n.4083+13G=) c.4116+13G= (n.4116+13G=) | |
3 | g.38560136C= | CA1358565636 | SCN5A | c.4242+11G= (n.4242+11G=) c.4245+11G= (n.4245+11G=) c.4083+11G= (n.4083+11G=) c.4116+11G= (n.4116+11G=) | |
3 | g.38560136C>T | CA542615527 | SCN5A | c.4242+11G>A (n.4242+11G>A) c.4245+11G>A (n.4245+11G>A) c.4083+11G>A (n.4083+11G>A) c.4116+11G>A (n.4116+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560139G>A | CA10582191 | SCN5A | c.4242+8C>T (n.4242+8C>T) c.4245+8C>T (n.4245+8C>T) c.4083+8C>T (n.4083+8C>T) c.4116+8C>T (n.4116+8C>T) | ClinVar dbSNP |
3 | g.38560139G= | CA1358565637 | SCN5A | c.4242+8C= (n.4242+8C=) c.4245+8C= (n.4245+8C=) c.4083+8C= (n.4083+8C=) c.4116+8C= (n.4116+8C=) | |
3 | g.38560140G>C | CA72944701 | SCN5A | c.4242+7C>G (n.4242+7C>G) c.4245+7C>G (n.4245+7C>G) c.4083+7C>G (n.4083+7C>G) c.4116+7C>G (n.4116+7C>G) | dbSNP |
3 | g.38560140G= | CA1358565638 | SCN5A | c.4242+7C= (n.4242+7C=) c.4245+7C= (n.4245+7C=) c.4083+7C= (n.4083+7C=) c.4116+7C= (n.4116+7C=) | |
3 | g.38560142C>T | CA2755901925 | SCN5A | c.4242+5G>A (n.4242+5G>A) c.4245+5G>A (n.4245+5G>A) c.4083+5G>A (n.4083+5G>A) c.4116+5G>A (n.4116+5G>A) | |
3 | g.38560143T>C | CA062974 | SCN5A | c.4242+4A>G (n.4242+4A>G) c.4245+4A>G (n.4245+4A>G) c.4083+4A>G (n.4083+4A>G) c.4116+4A>G (n.4116+4A>G) | dbSNP ExAC gnomAD v2 |
3 | g.38560143T= | CA1358565639 | SCN5A | c.4242+4A= (n.4242+4A=) c.4245+4A= (n.4245+4A=) c.4083+4A= (n.4083+4A=) c.4116+4A= (n.4116+4A=) | |
3 | g.38560144T>C | CA2665111486 | SCN5A | c.4242+3A>G (n.4242+3A>G) c.4245+3A>G (n.4245+3A>G) c.4083+3A>G (n.4083+3A>G) c.4116+3A>G (n.4116+3A>G) | gnomAD v4 |
3 | g.38560145A= | CA1358565640 | SCN5A | c.4242+2T= (n.4242+2T=) c.4245+2T= (n.4245+2T=) c.4083+2T= (n.4083+2T=) c.4116+2T= (n.4116+2T=) | |
3 | g.38560145A>C | CA352146005 | SCN5A | c.4242+2T>G (n.4242+2T>G) c.4245+2T>G (n.4245+2T>G) c.4083+2T>G (n.4083+2T>G) c.4116+2T>G (n.4116+2T>G) | |
3 | g.38560145A>G | CA352146010 | SCN5A | c.4242+2T>C (n.4242+2T>C) c.4245+2T>C (n.4245+2T>C) c.4083+2T>C (n.4083+2T>C) c.4116+2T>C (n.4116+2T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560145A>T | CA018025 | SCN5A | c.4242+2T>A (n.4242+2T>A) c.4245+2T>A (n.4245+2T>A) c.4083+2T>A (n.4083+2T>A) c.4116+2T>A (n.4116+2T>A) | ClinVar dbSNP |
3 | g.38560146C>A | CA018020 | SCN5A | c.4242+1G>T (n.4242+1G>T) c.4245+1G>T (n.4245+1G>T) c.4083+1G>T (n.4083+1G>T) c.4116+1G>T (n.4116+1G>T) | ClinVar dbSNP |
3 | g.38560146C= | CA1358565641 | SCN5A | c.4242+1G= (n.4242+1G=) c.4245+1G= (n.4245+1G=) c.4083+1G= (n.4083+1G=) c.4116+1G= (n.4116+1G=) | |
3 | g.38560146C>G | CA018015 | SCN5A | c.4242+1G>C (n.4242+1G>C) c.4245+1G>C (n.4245+1G>C) c.4083+1G>C (n.4083+1G>C) c.4116+1G>C (n.4116+1G>C) | ClinVar dbSNP |
3 | g.38560146C>T | CA352146018 | SCN5A | c.4242+1G>A (n.4242+1G>A) c.4245+1G>A (n.4245+1G>A) c.4083+1G>A (n.4083+1G>A) c.4116+1G>A (n.4116+1G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560147del | CA2586965758 | SCN5A | c.4242+1del c.4245+1del c.4083+1del c.4116+1del | |
3 | g.38560147C>A | CA433332161 | SCN5A | c.4242G>T (p.Val1414=) c.4245G>T (p.Val1415=) c.4083G>T (p.Val1361=) c.4116G>T (p.Val1372=) | |
3 | g.38560147C>G | CA433332163 | SCN5A | c.4242G>C (p.Val1414=) c.4245G>C (p.Val1415=) c.4083G>C (p.Val1361=) c.4116G>C (p.Val1372=) | |
3 | g.38560147C>T | CA433332165 | SCN5A | c.4242G>A (p.Val1414=) c.4245G>A (p.Val1415=) c.4083G>A (p.Val1361=) c.4116G>A (p.Val1372=) | |
3 | g.38560148A>C | CA352146021 | SCN5A | c.4241T>G (p.Val1414Gly) c.4244T>G (p.Val1415Gly) c.4082T>G (p.Val1361Gly) c.4115T>G (p.Val1372Gly) | |
3 | g.38560148A>G | CA352146026 | SCN5A | c.4241T>C (p.Val1414Ala) c.4244T>C (p.Val1415Ala) c.4082T>C (p.Val1361Ala) c.4115T>C (p.Val1372Ala) | |
3 | g.38560148A>T | CA352146024 | SCN5A | c.4241T>A (p.Val1414Glu) c.4244T>A (p.Val1415Glu) c.4082T>A (p.Val1361Glu) c.4115T>A (p.Val1372Glu) | |
3 | g.38560149C>A | CA352146030 | SCN5A | c.4240G>T (p.Val1414Leu) c.4243G>T (p.Val1415Leu) c.4081G>T (p.Val1361Leu) c.4114G>T (p.Val1372Leu) | |
3 | g.38560149C= | CA1358565642 | SCN5A | c.4240G= (p.Val1414=) c.4243G= (p.Val1415=) c.4081G= (p.Val1361=) c.4114G= (p.Val1372=) | |
3 | g.38560149C>G | CA352146033 | SCN5A | c.4240G>C (p.Val1414Leu) c.4243G>C (p.Val1415Leu) c.4081G>C (p.Val1361Leu) c.4114G>C (p.Val1372Leu) | gnomAD v4 |
3 | g.38560149C>T | CA352146034 | SCN5A | c.4240G>A (p.Val1414Met) c.4243G>A (p.Val1415Met) c.4081G>A (p.Val1361Met) c.4114G>A (p.Val1372Met) | dbSNP gnomAD v2 |
3 | g.38560150C>A | CA352146039 | SCN5A | c.4239G>T (p.Gln1413His) c.4242G>T (p.Gln1414His) c.4080G>T (p.Gln1360His) c.4113G>T (p.Gln1371His) | |
3 | g.38560150C= | CA1358565643 | SCN5A | c.4239G= (p.Gln1413=) c.4242G= (p.Gln1414=) c.4080G= (p.Gln1360=) c.4113G= (p.Gln1371=) | |
3 | g.38560150C>G | CA352146040 | SCN5A | c.4239G>C (p.Gln1413His) c.4242G>C (p.Gln1414His) c.4080G>C (p.Gln1360His) c.4113G>C (p.Gln1371His) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560150C>T | CA433332185 | SCN5A | c.4239G>A (p.Gln1413=) c.4242G>A (p.Gln1414=) c.4080G>A (p.Gln1360=) c.4113G>A (p.Gln1371=) | |
3 | g.38560151T>A | CA352146044 | SCN5A | c.4238A>T (p.Gln1413Leu) c.4241A>T (p.Gln1414Leu) c.4079A>T (p.Gln1360Leu) c.4112A>T (p.Gln1371Leu) | |
3 | g.38560151T>C | CA352146046 | SCN5A | c.4238A>G (p.Gln1413Arg) c.4241A>G (p.Gln1414Arg) c.4079A>G (p.Gln1360Arg) c.4112A>G (p.Gln1371Arg) | |
3 | g.38560151T>G | CA352146050 | SCN5A | c.4238A>C (p.Gln1413Pro) c.4241A>C (p.Gln1414Pro) c.4079A>C (p.Gln1360Pro) c.4112A>C (p.Gln1371Pro) | |
3 | g.38560152G>A | CA352146055 | SCN5A | c.4237C>T (p.Gln1413Ter) c.4240C>T (p.Gln1414Ter) c.4078C>T (p.Gln1360Ter) c.4111C>T (p.Gln1371Ter) | gnomAD v4 |
3 | g.38560152G>C | CA352146058 | SCN5A | c.4237C>G (p.Gln1413Glu) c.4240C>G (p.Gln1414Glu) c.4078C>G (p.Gln1360Glu) c.4111C>G (p.Gln1371Glu) | |
3 | g.38560152G>T | CA352146068 | SCN5A | c.4237C>A (p.Gln1413Lys) c.4240C>A (p.Gln1414Lys) c.4078C>A (p.Gln1360Lys) c.4111C>A (p.Gln1371Lys) | |
3 | g.38560153C>A | CA433332194 | SCN5A | c.4236G>T (p.Leu1412=) c.4239G>T (p.Leu1413=) c.4077G>T (p.Leu1359=) c.4110G>T (p.Leu1370=) | |
3 | g.38560153C>G | CA433332197 | SCN5A | c.4236G>C (p.Leu1412=) c.4239G>C (p.Leu1413=) c.4077G>C (p.Leu1359=) c.4110G>C (p.Leu1370=) | |
3 | g.38560153C>T | CA433332198 | SCN5A | c.4236G>A (p.Leu1412=) c.4239G>A (p.Leu1413=) c.4077G>A (p.Leu1359=) c.4110G>A (p.Leu1370=) | |
3 | g.38560154A>C | CA352146075 | SCN5A | c.4235T>G (p.Leu1412Arg) c.4238T>G (p.Leu1413Arg) c.4076T>G (p.Leu1359Arg) c.4109T>G (p.Leu1370Arg) | |
3 | g.38560154A>G | CA352146071 | SCN5A | c.4235T>C (p.Leu1412Pro) c.4238T>C (p.Leu1413Pro) c.4076T>C (p.Leu1359Pro) c.4109T>C (p.Leu1370Pro) | |
3 | g.38560154A>T | CA352146073 | SCN5A | c.4235T>A (p.Leu1412Gln) c.4238T>A (p.Leu1413Gln) c.4076T>A (p.Leu1359Gln) c.4109T>A (p.Leu1370Gln) | |
3 | g.38560155G>A | CA433332200 | SCN5A | c.4234C>T (p.Leu1412=) c.4237C>T (p.Leu1413=) c.4075C>T (p.Leu1359=) c.4108C>T (p.Leu1370=) | ClinVar dbSNP |
3 | g.38560155G>C | CA352146087 | SCN5A | c.4234C>G (p.Leu1412Val) c.4237C>G (p.Leu1413Val) c.4075C>G (p.Leu1359Val) c.4108C>G (p.Leu1370Val) | |
3 | g.38560155G= | CA1358565644 | SCN5A | c.4234C= (p.Leu1412=) c.4237C= (p.Leu1413=) c.4075C= (p.Leu1359=) c.4108C= (p.Leu1370=) | |
3 | g.38560155G>T | CA352146091 | SCN5A | c.4234C>A (p.Leu1412Met) c.4237C>A (p.Leu1413Met) c.4075C>A (p.Leu1359Met) c.4108C>A (p.Leu1370Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560156A>C | CA433332208 | SCN5A | c.4233T>G (p.Leu1411=) c.4236T>G (p.Leu1412=) c.4074T>G (p.Leu1358=) c.4107T>G (p.Leu1369=) | |
3 | g.38560156A>G | CA433332207 | SCN5A | c.4233T>C (p.Leu1411=) c.4236T>C (p.Leu1412=) c.4074T>C (p.Leu1358=) c.4107T>C (p.Leu1369=) | |
3 | g.38560156A>T | CA433332206 | SCN5A | c.4233T>A (p.Leu1411=) c.4236T>A (p.Leu1412=) c.4074T>A (p.Leu1358=) c.4107T>A (p.Leu1369=) | |
3 | g.38560157A>C | CA352146095 | SCN5A | c.4232T>G (p.Leu1411Arg) c.4235T>G (p.Leu1412Arg) c.4073T>G (p.Leu1358Arg) c.4106T>G (p.Leu1369Arg) | |
3 | g.38560157A>G | CA352146096 | SCN5A | c.4232T>C (p.Leu1411Pro) c.4235T>C (p.Leu1412Pro) c.4073T>C (p.Leu1358Pro) c.4106T>C (p.Leu1369Pro) | |
3 | g.38560157A>T | CA352146099 | SCN5A | c.4232T>A (p.Leu1411His) c.4235T>A (p.Leu1412His) c.4073T>A (p.Leu1358His) c.4106T>A (p.Leu1369His) | |
3 | g.38560158G>A | CA018010 | SCN5A | c.4231C>T (p.Leu1411Phe) c.4234C>T (p.Leu1412Phe) c.4072C>T (p.Leu1358Phe) c.4105C>T (p.Leu1369Phe) | ClinVar dbSNP COSMIC |
3 | g.38560158G>C | CA352146117 | SCN5A | c.4231C>G (p.Leu1411Val) c.4234C>G (p.Leu1412Val) c.4072C>G (p.Leu1358Val) c.4105C>G (p.Leu1369Val) | |
3 | g.38560158G= | CA1358565645 | SCN5A | c.4231C= (p.Leu1411=) c.4234C= (p.Leu1412=) c.4072C= (p.Leu1358=) c.4105C= (p.Leu1369=) | |
3 | g.38560158G>T | CA352146121 | SCN5A | c.4231C>A (p.Leu1411Ile) c.4234C>A (p.Leu1412Ile) c.4072C>A (p.Leu1358Ile) c.4105C>A (p.Leu1369Ile) | |
3 | g.38560159G>A | CA433332216 | SCN5A | c.4230C>T (p.Ala1410=) c.4233C>T (p.Ala1411=) c.4071C>T (p.Ala1357=) c.4104C>T (p.Ala1368=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560159G>C | CA433332218 | SCN5A | c.4230C>G (p.Ala1410=) c.4233C>G (p.Ala1411=) c.4071C>G (p.Ala1357=) c.4104C>G (p.Ala1368=) | |
3 | g.38560159G= | CA1358565646 | SCN5A | c.4230C= (p.Ala1410=) c.4233C= (p.Ala1411=) c.4071C= (p.Ala1357=) c.4104C= (p.Ala1368=) | |
3 | g.38560159G>T | CA433332220 | SCN5A | c.4230C>A (p.Ala1410=) c.4233C>A (p.Ala1411=) c.4071C>A (p.Ala1357=) c.4104C>A (p.Ala1368=) | |
3 | g.38560160G>A | CA352146124 | SCN5A | c.4229C>T (p.Ala1410Val) c.4232C>T (p.Ala1411Val) c.4070C>T (p.Ala1357Val) c.4103C>T (p.Ala1368Val) | |
3 | g.38560160G>C | CA352146126 | SCN5A | c.4229C>G (p.Ala1410Gly) c.4232C>G (p.Ala1411Gly) c.4070C>G (p.Ala1357Gly) c.4103C>G (p.Ala1368Gly) | |
3 | g.38560160G>T | CA352146127 | SCN5A | c.4229C>A (p.Ala1410Asp) c.4232C>A (p.Ala1411Asp) c.4070C>A (p.Ala1357Asp) c.4103C>A (p.Ala1368Asp) | ClinVar |
3 | g.38560161C>A | CA352146136 | SCN5A | c.4228G>T (p.Ala1410Ser) c.4231G>T (p.Ala1411Ser) c.4069G>T (p.Ala1357Ser) c.4102G>T (p.Ala1368Ser) | |
3 | g.38560161C>G | CA352146138 | SCN5A | c.4228G>C (p.Ala1410Pro) c.4231G>C (p.Ala1411Pro) c.4069G>C (p.Ala1357Pro) c.4102G>C (p.Ala1368Pro) | |
3 | g.38560161C>T | CA352146134 | SCN5A | c.4228G>A (p.Ala1410Thr) c.4231G>A (p.Ala1411Thr) c.4069G>A (p.Ala1357Thr) c.4102G>A (p.Ala1368Thr) | |
3 | g.38560162del | CA2586965759 | SCN5A | c.4228del (p.Ala1410ProfsTer?) c.4231del (p.Ala1411ProfsTer?) c.4069del (p.Ala1357ProfsTer?) c.4102del (p.Ala1368ProfsTer?) | |
3 | g.38560162C>A | CA433332229 | SCN5A | c.4227G>T (p.Leu1409=) c.4230G>T (p.Leu1410=) c.4068G>T (p.Leu1356=) c.4101G>T (p.Leu1367=) | |
3 | g.38560162C>G | CA433332231 | SCN5A | c.4227G>C (p.Leu1409=) c.4230G>C (p.Leu1410=) c.4068G>C (p.Leu1356=) c.4101G>C (p.Leu1367=) | |
3 | g.38560162C>T | CA433332230 | SCN5A | c.4227G>A (p.Leu1409=) c.4230G>A (p.Leu1410=) c.4068G>A (p.Leu1356=) c.4101G>A (p.Leu1367=) | ClinVar |
3 | g.38560163A= | CA1358565647 | SCN5A | c.4226T= (p.Leu1409=) c.4229T= (p.Leu1410=) c.4067T= (p.Leu1356=) c.4100T= (p.Leu1367=) | |
3 | g.38560163A>C | CA352146140 | SCN5A | c.4226T>G (p.Leu1409Arg) c.4229T>G (p.Leu1410Arg) c.4067T>G (p.Leu1356Arg) c.4100T>G (p.Leu1367Arg) | |
3 | g.38560163A>G | CA018003 | SCN5A | c.4226T>C (p.Leu1409Pro) c.4229T>C (p.Leu1410Pro) c.4067T>C (p.Leu1356Pro) c.4100T>C (p.Leu1367Pro) | ClinVar dbSNP |
3 | g.38560163A>T | CA352146145 | SCN5A | c.4226T>A (p.Leu1409Gln) c.4229T>A (p.Leu1410Gln) c.4067T>A (p.Leu1356Gln) c.4100T>A (p.Leu1367Gln) | |
3 | g.38560164G>A | CA433332232 | SCN5A | c.4225C>T (p.Leu1409=) c.4228C>T (p.Leu1410=) c.4066C>T (p.Leu1356=) c.4099C>T (p.Leu1367=) | |
3 | g.38560164G>C | CA352146148 | SCN5A | c.4225C>G (p.Leu1409Val) c.4228C>G (p.Leu1410Val) c.4066C>G (p.Leu1356Val) c.4099C>G (p.Leu1367Val) | |
3 | g.38560164G>T | CA352146151 | SCN5A | c.4225C>A (p.Leu1409Met) c.4228C>A (p.Leu1410Met) c.4066C>A (p.Leu1356Met) c.4099C>A (p.Leu1367Met) | |
3 | g.38560165G>A | CA062950 | SCN5A | c.4224C>T (p.Tyr1408=) c.4227C>T (p.Tyr1409=) c.4065C>T (p.Tyr1355=) c.4098C>T (p.Tyr1366=) | ClinVar dbSNP ExAC gnomAD v4 |
3 | g.38560165G>C | CA352146182 | SCN5A | c.4224C>G (p.Tyr1408Ter) c.4227C>G (p.Tyr1409Ter) c.4065C>G (p.Tyr1355Ter) c.4098C>G (p.Tyr1366Ter) | |
3 | g.38560165G= | CA1358565648 | SCN5A | c.4224C= (p.Tyr1408=) c.4227C= (p.Tyr1409=) c.4065C= (p.Tyr1355=) c.4098C= (p.Tyr1366=) | |
3 | g.38560165G>T | CA352146179 | SCN5A | c.4224C>A (p.Tyr1408Ter) c.4227C>A (p.Tyr1409Ter) c.4065C>A (p.Tyr1355Ter) c.4098C>A (p.Tyr1366Ter) | |
3 | g.38560166T>A | CA352146192 | SCN5A | c.4223A>T (p.Tyr1408Phe) c.4226A>T (p.Tyr1409Phe) c.4064A>T (p.Tyr1355Phe) c.4097A>T (p.Tyr1366Phe) | |
3 | g.38560166T>C | CA017997 | SCN5A | c.4223A>G (p.Tyr1408Cys) c.4226A>G (p.Tyr1409Cys) c.4064A>G (p.Tyr1355Cys) c.4097A>G (p.Tyr1366Cys) | ClinVar dbSNP |
3 | g.38560166T>G | CA352146198 | SCN5A | c.4223A>C (p.Tyr1408Ser) c.4226A>C (p.Tyr1409Ser) c.4064A>C (p.Tyr1355Ser) c.4097A>C (p.Tyr1366Ser) | |
3 | g.38560166T= | CA1358565649 | SCN5A | c.4223A= (p.Tyr1408=) c.4226A= (p.Tyr1409=) c.4064A= (p.Tyr1355=) c.4097A= (p.Tyr1366=) | |
3 | g.38560167A>C | CA352146204 | SCN5A | c.4222T>G (p.Tyr1408Asp) c.4225T>G (p.Tyr1409Asp) c.4063T>G (p.Tyr1355Asp) c.4096T>G (p.Tyr1366Asp) | |
3 | g.38560167A>G | CA352146206 | SCN5A | c.4222T>C (p.Tyr1408His) c.4225T>C (p.Tyr1409His) c.4063T>C (p.Tyr1355His) c.4096T>C (p.Tyr1366His) | |
3 | g.38560167A>T | CA352146208 | SCN5A | c.4222T>A (p.Tyr1408Asn) c.4225T>A (p.Tyr1409Asn) c.4063T>A (p.Tyr1355Asn) c.4096T>A (p.Tyr1366Asn) | |
3 | g.38560168C>A | CA433332244 | SCN5A | c.4221G>T (p.Gly1407=) c.4224G>T (p.Gly1408=) c.4062G>T (p.Gly1354=) c.4095G>T (p.Gly1365=) | |
3 | g.38560168C>G | CA433332251 | SCN5A | c.4221G>C (p.Gly1407=) c.4224G>C (p.Gly1408=) c.4062G>C (p.Gly1354=) c.4095G>C (p.Gly1365=) | |
3 | g.38560168C>T | CA433332247 | SCN5A | c.4221G>A (p.Gly1407=) c.4224G>A (p.Gly1408=) c.4062G>A (p.Gly1354=) c.4095G>A (p.Gly1365=) | ClinVar |
3 | g.38560169C>A | CA352146209 | SCN5A | c.4220G>T (p.Gly1407Val) c.4223G>T (p.Gly1408Val) c.4061G>T (p.Gly1354Val) c.4094G>T (p.Gly1365Val) | dbSNP |
3 | g.38560169C= | CA1358565650 | SCN5A | c.4220G= (p.Gly1407=) c.4223G= (p.Gly1408=) c.4061G= (p.Gly1354=) c.4094G= (p.Gly1365=) | |
3 | g.38560169C>G | CA352146216 | SCN5A | c.4220G>C (p.Gly1407Ala) c.4223G>C (p.Gly1408Ala) c.4061G>C (p.Gly1354Ala) c.4094G>C (p.Gly1365Ala) | ClinVar |
3 | g.38560169C>T | CA352146213 | SCN5A | c.4220G>A (p.Gly1407Glu) c.4223G>A (p.Gly1408Glu) c.4061G>A (p.Gly1354Glu) c.4094G>A (p.Gly1365Glu) | COSMIC COSMIC COSMIC |
3 | g.38560170C>A | CA352146219 | SCN5A | c.4219G>T (p.Gly1407Trp) c.4222G>T (p.Gly1408Trp) c.4060G>T (p.Gly1354Trp) c.4093G>T (p.Gly1365Trp) | |
3 | g.38560170C= | CA1358565651 | SCN5A | c.4219G= (p.Gly1407=) c.4222G= (p.Gly1408=) c.4060G= (p.Gly1354=) c.4093G= (p.Gly1365=) | |
3 | g.38560170C>G | CA352146220 | SCN5A | c.4219G>C (p.Gly1407Arg) c.4222G>C (p.Gly1408Arg) c.4060G>C (p.Gly1354Arg) c.4093G>C (p.Gly1365Arg) | |
3 | g.38560170C>T | CA017985 | SCN5A | c.4219G>A (p.Gly1407Arg) c.4222G>A (p.Gly1408Arg) c.4060G>A (p.Gly1354Arg) c.4093G>A (p.Gly1365Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.38560171G>A | CA062945 | SCN5A | c.4218C>T (p.Ala1406=) c.4221C>T (p.Ala1407=) c.4059C>T (p.Ala1353=) c.4092C>T (p.Ala1364=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560171G>C | CA433332261 | SCN5A | c.4218C>G (p.Ala1406=) c.4221C>G (p.Ala1407=) c.4059C>G (p.Ala1353=) c.4092C>G (p.Ala1364=) | ClinVar |
3 | g.38560171G= | CA1358565652 | SCN5A | c.4218C= (p.Ala1406=) c.4221C= (p.Ala1407=) c.4059C= (p.Ala1353=) c.4092C= (p.Ala1364=) | |
3 | g.38560171G>T | CA433332263 | SCN5A | c.4218C>A (p.Ala1406=) c.4221C>A (p.Ala1407=) c.4059C>A (p.Ala1353=) c.4092C>A (p.Ala1364=) | |
3 | g.38560172G>A | CA352146225 | SCN5A | c.4217C>T (p.Ala1406Val) c.4220C>T (p.Ala1407Val) c.4058C>T (p.Ala1353Val) c.4091C>T (p.Ala1364Val) | |
3 | g.38560172G>C | CA352146228 | SCN5A | c.4217C>G (p.Ala1406Gly) c.4220C>G (p.Ala1407Gly) c.4058C>G (p.Ala1353Gly) c.4091C>G (p.Ala1364Gly) | ClinVar dbSNP |
3 | g.38560172G= | CA1358565653 | SCN5A | c.4217C= (p.Ala1406=) c.4220C= (p.Ala1407=) c.4058C= (p.Ala1353=) c.4091C= (p.Ala1364=) | |
3 | g.38560172G>T | CA352146233 | SCN5A | c.4217C>A (p.Ala1406Asp) c.4220C>A (p.Ala1407Asp) c.4058C>A (p.Ala1353Asp) c.4091C>A (p.Ala1364Asp) | |
3 | g.38560173C>A | CA352146236 | SCN5A | c.4216G>T (p.Ala1406Ser) c.4219G>T (p.Ala1407Ser) c.4057G>T (p.Ala1353Ser) c.4090G>T (p.Ala1364Ser) | |
3 | g.38560173C>G | CA352146239 | SCN5A | c.4216G>C (p.Ala1406Pro) c.4219G>C (p.Ala1407Pro) c.4057G>C (p.Ala1353Pro) c.4090G>C (p.Ala1364Pro) | |
3 | g.38560173C>T | CA352146242 | SCN5A | c.4216G>A (p.Ala1406Thr) c.4219G>A (p.Ala1407Thr) c.4057G>A (p.Ala1353Thr) c.4090G>A (p.Ala1364Thr) | |
3 | g.38560177dup | CA2832543209 | SCN5A | c.4216dup (p.Ala1406GlyfsTer13) c.4219dup (p.Ala1407GlyfsTer13) c.4219dup (p.Ala1407GlyfsTer11) c.4057dup (p.Ala1353GlyfsTer13) c.4090dup (p.Ala1364GlyfsTer13) c.4216dup (p.Ala1406GlyfsTer11) | |
3 | g.38560173_38560174insT | CA2586965763 | SCN5A | c.4215_4216insA (p.Ala1406SerfsTer13) c.4218_4219insA (p.Ala1407SerfsTer13) c.4218_4219insA (p.Ala1407SerfsTer11) c.4056_4057insA (p.Ala1353SerfsTer13) c.4089_4090insA (p.Ala1364SerfsTer13) c.4215_4216insA (p.Ala1406SerfsTer11) | |
3 | g.38560174C>A | CA72944732 | SCN5A | c.4215G>T (p.Gly1405=) c.4218G>T (p.Gly1406=) c.4056G>T (p.Gly1352=) c.4089G>T (p.Gly1363=) | ClinVar dbSNP |
3 | g.38560174C= | CA1358565654 | SCN5A | c.4215G= (p.Gly1405=) c.4218G= (p.Gly1406=) c.4056G= (p.Gly1352=) c.4089G= (p.Gly1363=) | |
3 | g.38560174C>G | CA433332274 | SCN5A | c.4215G>C (p.Gly1405=) c.4218G>C (p.Gly1406=) c.4056G>C (p.Gly1352=) c.4089G>C (p.Gly1363=) | |
3 | g.38560174C>T | CA017977 | SCN5A | c.4215G>A (p.Gly1405=) c.4218G>A (p.Gly1406=) c.4056G>A (p.Gly1352=) c.4089G>A (p.Gly1363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560175C>A | CA352146260 | SCN5A | c.4214G>T (p.Gly1405Val) c.4217G>T (p.Gly1406Val) c.4055G>T (p.Gly1352Val) c.4088G>T (p.Gly1363Val) | |
3 | g.38560175C= | CA1358565655 | SCN5A | c.4214G= (p.Gly1405=) c.4217G= (p.Gly1406=) c.4055G= (p.Gly1352=) c.4088G= (p.Gly1363=) | |
3 | g.38560175C>G | CA352146254 | SCN5A | c.4214G>C (p.Gly1405Ala) c.4217G>C (p.Gly1406Ala) c.4055G>C (p.Gly1352Ala) c.4088G>C (p.Gly1363Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560175C>T | CA017969 | SCN5A | c.4214G>A (p.Gly1405Glu) c.4217G>A (p.Gly1406Glu) c.4055G>A (p.Gly1352Glu) c.4088G>A (p.Gly1363Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38560176C>A | CA352146265 | SCN5A | c.4213G>T (p.Gly1405Trp) c.4216G>T (p.Gly1406Trp) c.4054G>T (p.Gly1352Trp) c.4087G>T (p.Gly1363Trp) | ClinVar dbSNP |
3 | g.38560176C= | CA1358565656 | SCN5A | c.4213G= (p.Gly1405=) c.4216G= (p.Gly1406=) c.4054G= (p.Gly1352=) c.4087G= (p.Gly1363=) | |
3 | g.38560176C>G | CA352146270 | SCN5A | c.4213G>C (p.Gly1405Arg) c.4216G>C (p.Gly1406Arg) c.4054G>C (p.Gly1352Arg) c.4087G>C (p.Gly1363Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.38560176C>T | CA017960 | SCN5A | c.4213G>A (p.Gly1405Arg) c.4216G>A (p.Gly1406Arg) c.4054G>A (p.Gly1352Arg) c.4087G>A (p.Gly1363Arg) | ClinVar dbSNP |
3 | g.38560177C>A | CA062936 | SCN5A | c.4212G>T (p.Val1404=) c.4215G>T (p.Val1405=) c.4053G>T (p.Val1351=) c.4086G>T (p.Val1362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560177C= | CA1358565657 | SCN5A | c.4212G= (p.Val1404=) c.4215G= (p.Val1405=) c.4053G= (p.Val1351=) c.4086G= (p.Val1362=) | |
3 | g.38560177C>G | CA433332285 | SCN5A | c.4212G>C (p.Val1404=) c.4215G>C (p.Val1405=) c.4053G>C (p.Val1351=) c.4086G>C (p.Val1362=) | dbSNP |
3 | g.38560177C>T | CA433332286 | SCN5A | c.4212G>A (p.Val1404=) c.4215G>A (p.Val1405=) c.4053G>A (p.Val1351=) c.4086G>A (p.Val1362=) | |
3 | g.38560178A>C | CA352146277 | SCN5A | c.4211T>G (p.Val1404Gly) c.4214T>G (p.Val1405Gly) c.4052T>G (p.Val1351Gly) c.4085T>G (p.Val1362Gly) | |
3 | g.38560178A>G | CA352146278 | SCN5A | c.4211T>C (p.Val1404Ala) c.4214T>C (p.Val1405Ala) c.4052T>C (p.Val1351Ala) c.4085T>C (p.Val1362Ala) | |
3 | g.38560178A>T | CA352146282 | SCN5A | c.4211T>A (p.Val1404Glu) c.4214T>A (p.Val1405Glu) c.4052T>A (p.Val1351Glu) c.4085T>A (p.Val1362Glu) | |
3 | g.38560179C>A | CA352146285 | SCN5A | c.4210G>T (p.Val1404Leu) c.4213G>T (p.Val1405Leu) c.4051G>T (p.Val1351Leu) c.4084G>T (p.Val1362Leu) | |
3 | g.38560179C= | CA1358565658 | SCN5A | c.4210G= (p.Val1404=) c.4213G= (p.Val1405=) c.4051G= (p.Val1351=) c.4084G= (p.Val1362=) | |
3 | g.38560179C>G | CA017955 | SCN5A | c.4210G>C (p.Val1404Leu) c.4213G>C (p.Val1405Leu) c.4051G>C (p.Val1351Leu) c.4084G>C (p.Val1362Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38560179C>T | CA017946 | SCN5A | c.4210G>A (p.Val1404Met) c.4213G>A (p.Val1405Met) c.4051G>A (p.Val1351Met) c.4084G>A (p.Val1362Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560180G>A | CA017939 | SCN5A | c.4209C>T (p.Asn1403=) c.4212C>T (p.Asn1404=) c.4050C>T (p.Asn1350=) c.4083C>T (p.Asn1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560180G>C | CA352146289 | SCN5A | c.4209C>G (p.Asn1403Lys) c.4212C>G (p.Asn1404Lys) c.4050C>G (p.Asn1350Lys) c.4083C>G (p.Asn1361Lys) | |
3 | g.38560180G= | CA1358565659 | SCN5A | c.4209C= (p.Asn1403=) c.4212C= (p.Asn1404=) c.4050C= (p.Asn1350=) c.4083C= (p.Asn1361=) | |
3 | g.38560180G>T | CA352146292 | SCN5A | c.4209C>A (p.Asn1403Lys) c.4212C>A (p.Asn1404Lys) c.4050C>A (p.Asn1350Lys) c.4083C>A (p.Asn1361Lys) | |
3 | g.38560181T>A | CA352146295 | SCN5A | c.4208A>T (p.Asn1403Ile) c.4211A>T (p.Asn1404Ile) c.4049A>T (p.Asn1350Ile) c.4082A>T (p.Asn1361Ile) | |
3 | g.38560181T>C | CA352146299 | SCN5A | c.4208A>G (p.Asn1403Ser) c.4211A>G (p.Asn1404Ser) c.4049A>G (p.Asn1350Ser) c.4082A>G (p.Asn1361Ser) | gnomAD v4 |
3 | g.38560181T>G | CA352146301 | SCN5A | c.4208A>C (p.Asn1403Thr) c.4211A>C (p.Asn1404Thr) c.4049A>C (p.Asn1350Thr) c.4082A>C (p.Asn1361Thr) | |
3 | g.38560182T>A | CA352146304 | SCN5A | c.4207A>T (p.Asn1403Tyr) c.4210A>T (p.Asn1404Tyr) c.4048A>T (p.Asn1350Tyr) c.4081A>T (p.Asn1361Tyr) | |
3 | g.38560182T>C | CA352146306 | SCN5A | c.4207A>G (p.Asn1403Asp) c.4210A>G (p.Asn1404Asp) c.4048A>G (p.Asn1350Asp) c.4081A>G (p.Asn1361Asp) | |
3 | g.38560182T>G | CA352146305 | SCN5A | c.4207A>C (p.Asn1403His) c.4210A>C (p.Asn1404His) c.4048A>C (p.Asn1350His) c.4081A>C (p.Asn1361His) | |
3 | g.38560183G>A | CA433332298 | SCN5A | c.4206C>T (p.Asp1402=) c.4209C>T (p.Asp1403=) c.4047C>T (p.Asp1349=) c.4080C>T (p.Asp1360=) | |
3 | g.38560183G>C | CA352146308 | SCN5A | c.4206C>G (p.Asp1402Glu) c.4209C>G (p.Asp1403Glu) c.4047C>G (p.Asp1349Glu) c.4080C>G (p.Asp1360Glu) | |
3 | g.38560183G>T | CA352146311 | SCN5A | c.4206C>A (p.Asp1402Glu) c.4209C>A (p.Asp1403Glu) c.4047C>A (p.Asp1349Glu) c.4080C>A (p.Asp1360Glu) | |
3 | g.38560184T>A | CA352146314 | SCN5A | c.4205A>T (p.Asp1402Val) c.4208A>T (p.Asp1403Val) c.4046A>T (p.Asp1349Val) c.4079A>T (p.Asp1360Val) | |
3 | g.38560184T>C | CA352146317 | SCN5A | c.4205A>G (p.Asp1402Gly) c.4208A>G (p.Asp1403Gly) c.4046A>G (p.Asp1349Gly) c.4079A>G (p.Asp1360Gly) | |
3 | g.38560184T>G | CA352146320 | SCN5A | c.4205A>C (p.Asp1402Ala) c.4208A>C (p.Asp1403Ala) c.4046A>C (p.Asp1349Ala) c.4079A>C (p.Asp1360Ala) | |
3 | g.38560185C>A | CA352146323 | SCN5A | c.4204G>T (p.Asp1402Tyr) c.4207G>T (p.Asp1403Tyr) c.4045G>T (p.Asp1349Tyr) c.4078G>T (p.Asp1360Tyr) | |
3 | g.38560185C>G | CA352146324 | SCN5A | c.4204G>C (p.Asp1402His) c.4207G>C (p.Asp1403His) c.4045G>C (p.Asp1349His) c.4078G>C (p.Asp1360His) | |
3 | g.38560185C>T | CA352146327 | SCN5A | c.4204G>A (p.Asp1402Asn) c.4207G>A (p.Asp1403Asn) c.4045G>A (p.Asp1349Asn) c.4078G>A (p.Asp1360Asn) | |
3 | g.38560186A>C | CA352146329 | SCN5A | c.4203T>G (p.Phe1401Leu) c.4206T>G (p.Phe1402Leu) c.4044T>G (p.Phe1348Leu) c.4077T>G (p.Phe1359Leu) | |
3 | g.38560186A>G | CA433332307 | SCN5A | c.4203T>C (p.Phe1401=) c.4206T>C (p.Phe1402=) c.4044T>C (p.Phe1348=) c.4077T>C (p.Phe1359=) | |
3 | g.38560186A>T | CA352146331 | SCN5A | c.4203T>A (p.Phe1401Leu) c.4206T>A (p.Phe1402Leu) c.4044T>A (p.Phe1348Leu) c.4077T>A (p.Phe1359Leu) | |
3 | g.38560187A>C | CA352146340 | SCN5A | c.4202T>G (p.Phe1401Cys) c.4205T>G (p.Phe1402Cys) c.4043T>G (p.Phe1348Cys) c.4076T>G (p.Phe1359Cys) | |
3 | g.38560187A>G | CA352146336 | SCN5A | c.4202T>C (p.Phe1401Ser) c.4205T>C (p.Phe1402Ser) c.4043T>C (p.Phe1348Ser) c.4076T>C (p.Phe1359Ser) | ClinVar |
3 | g.38560187A>T | CA352146333 | SCN5A | c.4202T>A (p.Phe1401Tyr) c.4205T>A (p.Phe1402Tyr) c.4043T>A (p.Phe1348Tyr) c.4076T>A (p.Phe1359Tyr) | |
3 | g.38560188A>C | CA352146348 | SCN5A | c.4201T>G (p.Phe1401Val) c.4204T>G (p.Phe1402Val) c.4042T>G (p.Phe1348Val) c.4075T>G (p.Phe1359Val) | |
3 | g.38560188A>G | CA352146344 | SCN5A | c.4201T>C (p.Phe1401Leu) c.4204T>C (p.Phe1402Leu) c.4042T>C (p.Phe1348Leu) c.4075T>C (p.Phe1359Leu) | |
3 | g.38560188A>T | CA352146346 | SCN5A | c.4201T>A (p.Phe1401Ile) c.4204T>A (p.Phe1402Ile) c.4042T>A (p.Phe1348Ile) c.4075T>A (p.Phe1359Ile) | |
3 | g.38560189G>A | CA062925 | SCN5A | c.4200C>T (p.Asn1400=) c.4203C>T (p.Asn1401=) c.4041C>T (p.Asn1347=) c.4074C>T (p.Asn1358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560189G>C | CA352146353 | SCN5A | c.4200C>G (p.Asn1400Lys) c.4203C>G (p.Asn1401Lys) c.4041C>G (p.Asn1347Lys) c.4074C>G (p.Asn1358Lys) | |
3 | g.38560189G= | CA1358565660 | SCN5A | c.4200C= (p.Asn1400=) c.4203C= (p.Asn1401=) c.4041C= (p.Asn1347=) c.4074C= (p.Asn1358=) | |
3 | g.38560189G>T | CA352146356 | SCN5A | c.4200C>A (p.Asn1400Lys) c.4203C>A (p.Asn1401Lys) c.4041C>A (p.Asn1347Lys) c.4074C>A (p.Asn1358Lys) | |
3 | g.38560190T>A | CA352146364 | SCN5A | c.4199A>T (p.Asn1400Ile) c.4202A>T (p.Asn1401Ile) c.4040A>T (p.Asn1347Ile) c.4073A>T (p.Asn1358Ile) | |
3 | g.38560190T>C | CA352146361 | SCN5A | c.4199A>G (p.Asn1400Ser) c.4202A>G (p.Asn1401Ser) c.4040A>G (p.Asn1347Ser) c.4073A>G (p.Asn1358Ser) | |
3 | g.38560190T>G | CA352146358 | SCN5A | c.4199A>C (p.Asn1400Thr) c.4202A>C (p.Asn1401Thr) c.4040A>C (p.Asn1347Thr) c.4073A>C (p.Asn1358Thr) | ClinVar |
3 | g.38560191T>A | CA352146367 | SCN5A | c.4198A>T (p.Asn1400Tyr) c.4201A>T (p.Asn1401Tyr) c.4039A>T (p.Asn1347Tyr) c.4072A>T (p.Asn1358Tyr) | |
3 | g.38560191T>C | CA352146374 | SCN5A | c.4198A>G (p.Asn1400Asp) c.4201A>G (p.Asn1401Asp) c.4039A>G (p.Asn1347Asp) c.4072A>G (p.Asn1358Asp) | |
3 | g.38560191T>G | CA352146382 | SCN5A | c.4198A>C (p.Asn1400His) c.4201A>C (p.Asn1401His) c.4039A>C (p.Asn1347His) c.4072A>C (p.Asn1358His) | |
3 | g.38560192G>A | CA433332312 | SCN5A | c.4197C>T (p.Val1399=) c.4200C>T (p.Val1400=) c.4038C>T (p.Val1346=) c.4071C>T (p.Val1357=) | |
3 | g.38560192G>C | CA433332313 | SCN5A | c.4197C>G (p.Val1399=) c.4200C>G (p.Val1400=) c.4038C>G (p.Val1346=) c.4071C>G (p.Val1357=) | |
3 | g.38560192G>T | CA433332315 | SCN5A | c.4197C>A (p.Val1399=) c.4200C>A (p.Val1400=) c.4038C>A (p.Val1346=) c.4071C>A (p.Val1357=) | |
3 | g.38560193A= | CA1358565661 | SCN5A | c.4196T= (p.Val1399=) c.4199T= (p.Val1400=) c.4037T= (p.Val1346=) c.4070T= (p.Val1357=) | |
3 | g.38560193A>C | CA352146387 | SCN5A | c.4196T>G (p.Val1399Gly) c.4199T>G (p.Val1400Gly) c.4037T>G (p.Val1346Gly) c.4070T>G (p.Val1357Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38560193A>G | CA352146392 | SCN5A | c.4196T>C (p.Val1399Ala) c.4199T>C (p.Val1400Ala) c.4037T>C (p.Val1346Ala) c.4070T>C (p.Val1357Ala) | |
3 | g.38560193A>T | CA352146396 | SCN5A | c.4196T>A (p.Val1399Asp) c.4199T>A (p.Val1400Asp) c.4037T>A (p.Val1346Asp) c.4070T>A (p.Val1357Asp) | |
3 | g.38560194C>A | CA352146399 | SCN5A | c.4195G>T (p.Val1399Phe) c.4198G>T (p.Val1400Phe) c.4036G>T (p.Val1346Phe) c.4069G>T (p.Val1357Phe) | |
3 | g.38560194C= | CA1358565662 | SCN5A | c.4195G= (p.Val1399=) c.4198G= (p.Val1400=) c.4036G= (p.Val1346=) c.4069G= (p.Val1357=) | |
3 | g.38560194C>G | CA352146405 | SCN5A | c.4195G>C (p.Val1399Leu) c.4198G>C (p.Val1400Leu) c.4036G>C (p.Val1346Leu) c.4069G>C (p.Val1357Leu) | |
3 | g.38560194C>T | CA352146402 | SCN5A | c.4195G>A (p.Val1399Ile) c.4198G>A (p.Val1400Ile) c.4036G>A (p.Val1346Ile) c.4069G>A (p.Val1357Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560195T>A | CA352146410 | SCN5A | c.4194A>T (p.Lys1398Asn) c.4197A>T (p.Lys1399Asn) c.4035A>T (p.Lys1345Asn) c.4068A>T (p.Lys1356Asn) | |
3 | g.38560195T>C | CA433332320 | SCN5A | c.4194A>G (p.Lys1398=) c.4197A>G (p.Lys1399=) c.4035A>G (p.Lys1345=) c.4068A>G (p.Lys1356=) | |
3 | g.38560195T>G | CA352146414 | SCN5A | c.4194A>C (p.Lys1398Asn) c.4197A>C (p.Lys1399Asn) c.4035A>C (p.Lys1345Asn) c.4068A>C (p.Lys1356Asn) | |
3 | g.38560196T>A | CA352146416 | SCN5A | c.4193A>T (p.Lys1398Ile) c.4196A>T (p.Lys1399Ile) c.4034A>T (p.Lys1345Ile) c.4067A>T (p.Lys1356Ile) | |
3 | g.38560196T>C | CA352146418 | SCN5A | c.4193A>G (p.Lys1398Arg) c.4196A>G (p.Lys1399Arg) c.4034A>G (p.Lys1345Arg) c.4067A>G (p.Lys1356Arg) | |
3 | g.38560196T>G | CA352146420 | SCN5A | c.4193A>C (p.Lys1398Thr) c.4196A>C (p.Lys1399Thr) c.4034A>C (p.Lys1345Thr) c.4067A>C (p.Lys1356Thr) | |
3 | g.38560197T>A | CA352146424 | SCN5A | c.4192A>T (p.Lys1398Ter) c.4195A>T (p.Lys1399Ter) c.4033A>T (p.Lys1345Ter) c.4066A>T (p.Lys1356Ter) | dbSNP |
3 | g.38560197T>C | CA352146427 | SCN5A | c.4192A>G (p.Lys1398Glu) c.4195A>G (p.Lys1399Glu) c.4033A>G (p.Lys1345Glu) c.4066A>G (p.Lys1356Glu) | |
3 | g.38560197T>G | CA352146428 | SCN5A | c.4192A>C (p.Lys1398Gln) c.4195A>C (p.Lys1399Gln) c.4033A>C (p.Lys1345Gln) c.4066A>C (p.Lys1356Gln) | |
3 | g.38560197T= | CA1358565664 | SCN5A | c.4192A= (p.Lys1398=) c.4195A= (p.Lys1399=) c.4033A= (p.Lys1345=) c.4066A= (p.Lys1356=) | |
3 | g.38560197_38560198delinsTC | CA1358565663 | SCN5A | c.4191_4192delinsGA (p.Val1397=) c.4194_4195delinsGA (p.Val1398=) c.4032_4033delinsGA (p.Val1344=) c.4065_4066delinsGA (p.Val1355=) | |
3 | g.38560198del | CA16617947 | SCN5A | c.4191del (p.Val1399SerfsTer?) c.4194del (p.Val1400SerfsTer?) c.4032del (p.Val1346SerfsTer?) c.4065del (p.Val1357SerfsTer?) | ClinVar dbSNP |
3 | g.38560198C>A | CA433332325 | SCN5A | c.4191G>T (p.Val1397=) c.4194G>T (p.Val1398=) c.4032G>T (p.Val1344=) c.4065G>T (p.Val1355=) | |
3 | g.38560198C= | CA1358565665 | SCN5A | c.4191G= (p.Val1397=) c.4194G= (p.Val1398=) c.4032G= (p.Val1344=) c.4065G= (p.Val1355=) | |
3 | g.38560198C>G | CA062920 | SCN5A | c.4191G>C (p.Val1397=) c.4194G>C (p.Val1398=) c.4032G>C (p.Val1344=) c.4065G>C (p.Val1355=) | dbSNP ExAC gnomAD v2 |
3 | g.38560198C>T | CA433332324 | SCN5A | c.4191G>A (p.Val1397=) c.4194G>A (p.Val1398=) c.4032G>A (p.Val1344=) c.4065G>A (p.Val1355=) | ClinVar dbSNP |
3 | g.38560199A>C | CA352146434 | SCN5A | c.4190T>G (p.Val1397Gly) c.4193T>G (p.Val1398Gly) c.4031T>G (p.Val1344Gly) c.4064T>G (p.Val1355Gly) | |
3 | g.38560199A>G | CA352146439 | SCN5A | c.4190T>C (p.Val1397Ala) c.4193T>C (p.Val1398Ala) c.4031T>C (p.Val1344Ala) c.4064T>C (p.Val1355Ala) | |
3 | g.38560199A>T | CA352146441 | SCN5A | c.4190T>A (p.Val1397Glu) c.4193T>A (p.Val1398Glu) c.4031T>A (p.Val1344Glu) c.4064T>A (p.Val1355Glu) | gnomAD v4 |
3 | g.38560200C>A | CA352146449 | SCN5A | c.4189G>T (p.Val1397Leu) c.4192G>T (p.Val1398Leu) c.4030G>T (p.Val1344Leu) c.4063G>T (p.Val1355Leu) | |
3 | g.38560200C= | CA1358565666 | SCN5A | c.4189G= (p.Val1397=) c.4192G= (p.Val1398=) c.4030G= (p.Val1344=) c.4063G= (p.Val1355=) | |
3 | g.38560200C>G | CA352146446 | SCN5A | c.4189G>C (p.Val1397Leu) c.4192G>C (p.Val1398Leu) c.4030G>C (p.Val1344Leu) c.4063G>C (p.Val1355Leu) | |
3 | g.38560200C>T | CA352146443 | SCN5A | c.4189G>A (p.Val1397Met) c.4192G>A (p.Val1398Met) c.4030G>A (p.Val1344Met) c.4063G>A (p.Val1355Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560201C>A | CA352146452 | SCN5A | c.4188G>T (p.Lys1396Asn) c.4191G>T (p.Lys1397Asn) c.4029G>T (p.Lys1343Asn) c.4062G>T (p.Lys1354Asn) | COSMIC COSMIC COSMIC |
3 | g.38560201C>G | CA352146454 | SCN5A | c.4188G>C (p.Lys1396Asn) c.4191G>C (p.Lys1397Asn) c.4029G>C (p.Lys1343Asn) c.4062G>C (p.Lys1354Asn) | gnomAD v4 |
3 | g.38560201C>T | CA433332333 | SCN5A | c.4188G>A (p.Lys1396=) c.4191G>A (p.Lys1397=) c.4029G>A (p.Lys1343=) c.4062G>A (p.Lys1354=) | ClinVar dbSNP |
3 | g.38560201_38560202delinsCT | CA1358565667 | SCN5A | c.4187_4188delinsAG (p.Lys1396=) c.4190_4191delinsAG (p.Lys1397=) c.4028_4029delinsAG (p.Lys1343=) c.4061_4062delinsAG (p.Lys1354=) | |
3 | g.38560202T>A | CA352146458 | SCN5A | c.4187A>T (p.Lys1396Met) c.4190A>T (p.Lys1397Met) c.4028A>T (p.Lys1343Met) c.4061A>T (p.Lys1354Met) | |
3 | g.38560202T>C | CA352146460 | SCN5A | c.4187A>G (p.Lys1396Arg) c.4190A>G (p.Lys1397Arg) c.4028A>G (p.Lys1343Arg) c.4061A>G (p.Lys1354Arg) | gnomAD v4 |
3 | g.38560202T>G | CA352146463 | SCN5A | c.4187A>C (p.Lys1396Thr) c.4190A>C (p.Lys1397Thr) c.4028A>C (p.Lys1343Thr) c.4061A>C (p.Lys1354Thr) | |
3 | g.38560203del | CA017930 | SCN5A | c.4187del (p.Lys1396ArgfsTer2) c.4190del (p.Lys1397ArgfsTer2) c.4028del (p.Lys1343ArgfsTer2) c.4061del (p.Lys1354ArgfsTer2) | ClinVar dbSNP |