Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38575255_38575257del | CA542615665 | SCN5A | c.3663+48_3663+50del (n.3663+48_3663+50del) c.3666+48_3666+50del (n.3666+48_3666+50del) c.3504+48_3504+50del (n.3504+48_3504+50del) c.3537+48_3537+50del (n.3537+48_3537+50del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575251_38575252delinsCT | CA1358572484 | SCN5A | c.3663+45_3663+46delinsAG (n.3663+45_3663+46delinsAG) c.3666+45_3666+46delinsAG (n.3666+45_3666+46delinsAG) c.3504+45_3504+46delinsAG (n.3504+45_3504+46delinsAG) c.3537+45_3537+46delinsAG (n.3537+45_3537+46delinsAG) | |
3 | g.38575252del | CA542615668 | SCN5A | c.3663+45del (n.3663+45del) c.3666+45del (n.3666+45del) c.3504+45del (n.3504+45del) c.3537+45del (n.3537+45del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575252T>A | CA2665112147 | SCN5A | c.3663+45A>T (n.3663+45A>T) c.3666+45A>T (n.3666+45A>T) c.3504+45A>T (n.3504+45A>T) c.3537+45A>T (n.3537+45A>T) | gnomAD v4 |
3 | g.38575252T>C | CA72923099 | SCN5A | c.3663+45A>G (n.3663+45A>G) c.3666+45A>G (n.3666+45A>G) c.3504+45A>G (n.3504+45A>G) c.3537+45A>G (n.3537+45A>G) | dbSNP |
3 | g.38575252T>G | CA062143 | SCN5A | c.3663+45A>C (n.3663+45A>C) c.3666+45A>C (n.3666+45A>C) c.3504+45A>C (n.3504+45A>C) c.3537+45A>C (n.3537+45A>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.38575252T= | CA1358572485 | SCN5A | c.3663+45A= (n.3663+45A=) c.3666+45A= (n.3666+45A=) c.3504+45A= (n.3504+45A=) c.3537+45A= (n.3537+45A=) | |
3 | g.38575253C>A | CA2665112148 | SCN5A | c.3663+44G>T (n.3663+44G>T) c.3666+44G>T (n.3666+44G>T) c.3504+44G>T (n.3504+44G>T) c.3537+44G>T (n.3537+44G>T) | gnomAD v4 |
3 | g.38575253C= | CA1358572486 | SCN5A | c.3663+44G= (n.3663+44G=) c.3666+44G= (n.3666+44G=) c.3504+44G= (n.3504+44G=) c.3537+44G= (n.3537+44G=) | |
3 | g.38575253C>T | CA062140 | SCN5A | c.3663+44G>A (n.3663+44G>A) c.3666+44G>A (n.3666+44G>A) c.3504+44G>A (n.3504+44G>A) c.3537+44G>A (n.3537+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575254C= | CA1358572487 | SCN5A | c.3663+43G= (n.3663+43G=) c.3666+43G= (n.3666+43G=) c.3504+43G= (n.3504+43G=) c.3537+43G= (n.3537+43G=) | |
3 | g.38575254C>G | CA1358572488 | SCN5A | c.3663+43G>C (n.3663+43G>C) c.3666+43G>C (n.3666+43G>C) c.3504+43G>C (n.3504+43G>C) c.3537+43G>C (n.3537+43G>C) | dbSNP gnomAD v4 |
3 | g.38575254C>T | CA2665112149 | SCN5A | c.3663+43G>A (n.3663+43G>A) c.3666+43G>A (n.3666+43G>A) c.3504+43G>A (n.3504+43G>A) c.3537+43G>A (n.3537+43G>A) | gnomAD v4 |
3 | g.38575255T>A | CA2665112150 | SCN5A | c.3663+42A>T (n.3663+42A>T) c.3666+42A>T (n.3666+42A>T) c.3504+42A>T (n.3504+42A>T) c.3537+42A>T (n.3537+42A>T) | gnomAD v4 |
3 | g.38575255T>C | CA72923117 | SCN5A | c.3663+42A>G (n.3663+42A>G) c.3666+42A>G (n.3666+42A>G) c.3504+42A>G (n.3504+42A>G) c.3537+42A>G (n.3537+42A>G) | dbSNP gnomAD v4 |
3 | g.38575255T= | CA1358572489 | SCN5A | c.3663+42A= (n.3663+42A=) c.3666+42A= (n.3666+42A=) c.3504+42A= (n.3504+42A=) c.3537+42A= (n.3537+42A=) | |
3 | g.38575255_38575256delinsTC | CA1358572490 | SCN5A | c.3663+41_3663+42delinsGA (n.3663+41_3663+42delinsGA) c.3666+41_3666+42delinsGA (n.3666+41_3666+42delinsGA) c.3504+41_3504+42delinsGA (n.3504+41_3504+42delinsGA) c.3537+41_3537+42delinsGA (n.3537+41_3537+42delinsGA) | |
3 | g.38575256C>A | CA062137 | SCN5A | c.3663+41G>T (n.3663+41G>T) c.3666+41G>T (n.3666+41G>T) c.3504+41G>T (n.3504+41G>T) c.3537+41G>T (n.3537+41G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575256C= | CA1358572491 | SCN5A | c.3663+41G= (n.3663+41G=) c.3666+41G= (n.3666+41G=) c.3504+41G= (n.3504+41G=) c.3537+41G= (n.3537+41G=) | |
3 | g.38575256C>T | CA2665112151 | SCN5A | c.3663+41G>A (n.3663+41G>A) c.3666+41G>A (n.3666+41G>A) c.3504+41G>A (n.3504+41G>A) c.3537+41G>A (n.3537+41G>A) | gnomAD v4 |
3 | g.38575257del | CA542615669 | SCN5A | c.3663+41del (n.3663+41del) c.3666+41del (n.3666+41del) c.3504+41del (n.3504+41del) c.3537+41del (n.3537+41del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575257C>T | CA2665112152 | SCN5A | c.3663+40G>A (n.3663+40G>A) c.3666+40G>A (n.3666+40G>A) c.3504+40G>A (n.3504+40G>A) c.3537+40G>A (n.3537+40G>A) | gnomAD v4 |
3 | g.38575258A>C | CA2665112153 | SCN5A | c.3663+39T>G (n.3663+39T>G) c.3666+39T>G (n.3666+39T>G) c.3504+39T>G (n.3504+39T>G) c.3537+39T>G (n.3537+39T>G) | gnomAD v4 |
3 | g.38575258A>G | CA2665112154 | SCN5A | c.3663+39T>C (n.3663+39T>C) c.3666+39T>C (n.3666+39T>C) c.3504+39T>C (n.3504+39T>C) c.3537+39T>C (n.3537+39T>C) | gnomAD v4 |
3 | g.38575259G>A | CA2839123719 | SCN5A | c.3663+38C>T (n.3663+38C>T) c.3666+38C>T (n.3666+38C>T) c.3504+38C>T (n.3504+38C>T) c.3537+38C>T (n.3537+38C>T) | |
3 | g.38575259G>C | CA2702487599 | SCN5A | c.3663+38C>G (n.3663+38C>G) c.3666+38C>G (n.3666+38C>G) c.3504+38C>G (n.3504+38C>G) c.3537+38C>G (n.3537+38C>G) | dbSNP |
3 | g.38575259G>T | CA2665112155 | SCN5A | c.3663+38C>A (n.3663+38C>A) c.3666+38C>A (n.3666+38C>A) c.3504+38C>A (n.3504+38C>A) c.3537+38C>A (n.3537+38C>A) | gnomAD v4 |
3 | g.38575260C>A | CA906907012 | SCN5A | c.3663+37G>T (n.3663+37G>T) c.3666+37G>T (n.3666+37G>T) c.3504+37G>T (n.3504+37G>T) c.3537+37G>T (n.3537+37G>T) | dbSNP gnomAD v4 |
3 | g.38575260C= | CA1358572492 | SCN5A | c.3663+37G= (n.3663+37G=) c.3666+37G= (n.3666+37G=) c.3504+37G= (n.3504+37G=) c.3537+37G= (n.3537+37G=) | |
3 | g.38575260C>T | CA2665112156 | SCN5A | c.3663+37G>A (n.3663+37G>A) c.3666+37G>A (n.3666+37G>A) c.3504+37G>A (n.3504+37G>A) c.3537+37G>A (n.3537+37G>A) | gnomAD v4 |
3 | g.38575261C= | CA1358572493 | SCN5A | c.3663+36G= (n.3663+36G=) c.3666+36G= (n.3666+36G=) c.3504+36G= (n.3504+36G=) c.3537+36G= (n.3537+36G=) | |
3 | g.38575261C>G | CA542615670 | SCN5A | c.3663+36G>C (n.3663+36G>C) c.3666+36G>C (n.3666+36G>C) c.3504+36G>C (n.3504+36G>C) c.3537+36G>C (n.3537+36G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575261C>T | CA062134 | SCN5A | c.3663+36G>A (n.3663+36G>A) c.3666+36G>A (n.3666+36G>A) c.3504+36G>A (n.3504+36G>A) c.3537+36G>A (n.3537+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575262G>A | CA062129 | SCN5A | c.3663+35C>T (n.3663+35C>T) c.3666+35C>T (n.3666+35C>T) c.3504+35C>T (n.3504+35C>T) c.3537+35C>T (n.3537+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575262G= | CA1358572494 | SCN5A | c.3663+35C= (n.3663+35C=) c.3666+35C= (n.3666+35C=) c.3504+35C= (n.3504+35C=) c.3537+35C= (n.3537+35C=) | |
3 | g.38575263T>C | CA72923121 | SCN5A | c.3663+34A>G (n.3663+34A>G) c.3666+34A>G (n.3666+34A>G) c.3504+34A>G (n.3504+34A>G) c.3537+34A>G (n.3537+34A>G) | dbSNP gnomAD v4 |
3 | g.38575263T= | CA1358572495 | SCN5A | c.3663+34A= (n.3663+34A=) c.3666+34A= (n.3666+34A=) c.3504+34A= (n.3504+34A=) c.3537+34A= (n.3537+34A=) | |
3 | g.38575264C>A | CA2840078009 | SCN5A | c.3663+33G>T (n.3663+33G>T) c.3666+33G>T (n.3666+33G>T) c.3504+33G>T (n.3504+33G>T) c.3537+33G>T (n.3537+33G>T) | |
3 | g.38575265C>A | CA2665112157 | SCN5A | c.3663+32G>T (n.3663+32G>T) c.3666+32G>T (n.3666+32G>T) c.3504+32G>T (n.3504+32G>T) c.3537+32G>T (n.3537+32G>T) | gnomAD v4 |
3 | g.38575265C= | CA1358572496 | SCN5A | c.3663+32G= (n.3663+32G=) c.3666+32G= (n.3666+32G=) c.3504+32G= (n.3504+32G=) c.3537+32G= (n.3537+32G=) | |
3 | g.38575265C>G | CA542615671 | SCN5A | c.3663+32G>C (n.3663+32G>C) c.3666+32G>C (n.3666+32G>C) c.3504+32G>C (n.3504+32G>C) c.3537+32G>C (n.3537+32G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575265C>T | CA2577553048 | SCN5A | c.3663+32G>A (n.3663+32G>A) c.3666+32G>A (n.3666+32G>A) c.3504+32G>A (n.3504+32G>A) c.3537+32G>A (n.3537+32G>A) | |
3 | g.38575266C>A | CA2665112158 | SCN5A | c.3663+31G>T (n.3663+31G>T) c.3666+31G>T (n.3666+31G>T) c.3504+31G>T (n.3504+31G>T) c.3537+31G>T (n.3537+31G>T) | gnomAD v4 |
3 | g.38575267T>C | CA2665112159 | SCN5A | c.3663+30A>G (n.3663+30A>G) c.3666+30A>G (n.3666+30A>G) c.3504+30A>G (n.3504+30A>G) c.3537+30A>G (n.3537+30A>G) | gnomAD v4 |
3 | g.38575268G>A | CA542615672 | SCN5A | c.3663+29C>T (n.3663+29C>T) c.3666+29C>T (n.3666+29C>T) c.3504+29C>T (n.3504+29C>T) c.3537+29C>T (n.3537+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575268G= | CA1358572497 | SCN5A | c.3663+29C= (n.3663+29C=) c.3666+29C= (n.3666+29C=) c.3504+29C= (n.3504+29C=) c.3537+29C= (n.3537+29C=) | |
3 | g.38575268G>T | CA542615673 | SCN5A | c.3663+29C>A (n.3663+29C>A) c.3666+29C>A (n.3666+29C>A) c.3504+29C>A (n.3504+29C>A) c.3537+29C>A (n.3537+29C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575269C>A | CA2665112160 | SCN5A | c.3663+28G>T (n.3663+28G>T) c.3666+28G>T (n.3666+28G>T) c.3504+28G>T (n.3504+28G>T) c.3537+28G>T (n.3537+28G>T) | gnomAD v4 |
3 | g.38575269C>T | CA2665112161 | SCN5A | c.3663+28G>A (n.3663+28G>A) c.3666+28G>A (n.3666+28G>A) c.3504+28G>A (n.3504+28G>A) c.3537+28G>A (n.3537+28G>A) | gnomAD v4 |
3 | g.38575270C>A | CA2665112162 | SCN5A | c.3663+27G>T (n.3663+27G>T) c.3666+27G>T (n.3666+27G>T) c.3504+27G>T (n.3504+27G>T) c.3537+27G>T (n.3537+27G>T) | gnomAD v4 |
3 | g.38575271A= | CA1358572498 | SCN5A | c.3663+26T= (n.3663+26T=) c.3666+26T= (n.3666+26T=) c.3504+26T= (n.3504+26T=) c.3537+26T= (n.3537+26T=) | |
3 | g.38575271A>G | CA062126 | SCN5A | c.3663+26T>C (n.3663+26T>C) c.3666+26T>C (n.3666+26T>C) c.3504+26T>C (n.3504+26T>C) c.3537+26T>C (n.3537+26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575272C>A | CA2665112163 | SCN5A | c.3663+25G>T (n.3663+25G>T) c.3666+25G>T (n.3666+25G>T) c.3504+25G>T (n.3504+25G>T) c.3537+25G>T (n.3537+25G>T) | gnomAD v4 |
3 | g.38575273A= | CA1358572499 | SCN5A | c.3663+24T= (n.3663+24T=) c.3666+24T= (n.3666+24T=) c.3504+24T= (n.3504+24T=) c.3537+24T= (n.3537+24T=) | |
3 | g.38575273A>G | CA062121 | SCN5A | c.3663+24T>C (n.3663+24T>C) c.3666+24T>C (n.3666+24T>C) c.3504+24T>C (n.3504+24T>C) c.3537+24T>C (n.3537+24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575276C>A | CA2665112164 | SCN5A | c.3663+21G>T (n.3663+21G>T) c.3666+21G>T (n.3666+21G>T) c.3504+21G>T (n.3504+21G>T) c.3537+21G>T (n.3537+21G>T) | gnomAD v4 |
3 | g.38575276C= | CA1358572500 | SCN5A | c.3663+21G= (n.3663+21G=) c.3666+21G= (n.3666+21G=) c.3504+21G= (n.3504+21G=) c.3537+21G= (n.3537+21G=) | |
3 | g.38575276C>T | CA1358572501 | SCN5A | c.3663+21G>A (n.3663+21G>A) c.3666+21G>A (n.3666+21G>A) c.3504+21G>A (n.3504+21G>A) c.3537+21G>A (n.3537+21G>A) | dbSNP |
3 | g.38575277C>A | CA2533287340 | SCN5A | c.3663+20G>T (n.3663+20G>T) c.3666+20G>T (n.3666+20G>T) c.3504+20G>T (n.3504+20G>T) c.3537+20G>T (n.3537+20G>T) | gnomAD v4 |
3 | g.38575278T>C | CA2665112165 | SCN5A | c.3663+19A>G (n.3663+19A>G) c.3666+19A>G (n.3666+19A>G) c.3504+19A>G (n.3504+19A>G) c.3537+19A>G (n.3537+19A>G) | gnomAD v4 |
3 | g.38575279G>A | CA2665112167 | SCN5A | c.3663+18C>T (n.3663+18C>T) c.3666+18C>T (n.3666+18C>T) c.3504+18C>T (n.3504+18C>T) c.3537+18C>T (n.3537+18C>T) | gnomAD v4 |
3 | g.38575279G>T | CA2665112166 | SCN5A | c.3663+18C>A (n.3663+18C>A) c.3666+18C>A (n.3666+18C>A) c.3504+18C>A (n.3504+18C>A) c.3537+18C>A (n.3537+18C>A) | gnomAD v4 |
3 | g.38575280C>T | CA2577553052 | SCN5A | c.3663+17G>A (n.3663+17G>A) c.3666+17G>A (n.3666+17G>A) c.3504+17G>A (n.3504+17G>A) c.3537+17G>A (n.3537+17G>A) | gnomAD v4 |
3 | g.38575282T>A | CA1358572503 | SCN5A | c.3663+15A>T (n.3663+15A>T) c.3666+15A>T (n.3666+15A>T) c.3504+15A>T (n.3504+15A>T) c.3537+15A>T (n.3537+15A>T) | dbSNP |
3 | g.38575282T= | CA1358572502 | SCN5A | c.3663+15A= (n.3663+15A=) c.3666+15A= (n.3666+15A=) c.3504+15A= (n.3504+15A=) c.3537+15A= (n.3537+15A=) | |
3 | g.38575283C>T | CA2740094355 | SCN5A | c.3663+14G>A (n.3663+14G>A) c.3666+14G>A (n.3666+14G>A) c.3504+14G>A (n.3504+14G>A) c.3537+14G>A (n.3537+14G>A) | ClinVar |
3 | g.38575284_38575286dup | CA2319541 | SCN5A | c.3663+12_3663+14dup (n.3663+12_3663+14dup) c.3666+12_3666+14dup (n.3666+12_3666+14dup) c.3504+12_3504+14dup (n.3504+12_3504+14dup) c.3537+12_3537+14dup (n.3537+12_3537+14dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575286del | CA2665112168 | SCN5A | c.3663+14del (n.3663+14del) c.3666+14del (n.3666+14del) c.3504+14del (n.3504+14del) c.3537+14del (n.3537+14del) | gnomAD v4 |
3 | g.38575285_38575286del | CA2755899224 | SCN5A | c.3663+13_3663+14del (n.3663+13_3663+14del) c.3666+13_3666+14del (n.3666+13_3666+14del) c.3504+13_3504+14del (n.3504+13_3504+14del) c.3537+13_3537+14del (n.3537+13_3537+14del) | |
3 | g.38575285C>A | CA647831915 | SCN5A | c.3663+12G>T (n.3663+12G>T) c.3666+12G>T (n.3666+12G>T) c.3504+12G>T (n.3504+12G>T) c.3537+12G>T (n.3537+12G>T) | COSMIC COSMIC |
3 | g.38575286C>A | CA2665112169 | SCN5A | c.3663+11G>T (n.3663+11G>T) c.3666+11G>T (n.3666+11G>T) c.3504+11G>T (n.3504+11G>T) c.3537+11G>T (n.3537+11G>T) | gnomAD v4 |
3 | g.38575286C= | CA1358572504 | SCN5A | c.3663+11G= (n.3663+11G=) c.3666+11G= (n.3666+11G=) c.3504+11G= (n.3504+11G=) c.3537+11G= (n.3537+11G=) | |
3 | g.38575286C>T | CA906907029 | SCN5A | c.3663+11G>A (n.3663+11G>A) c.3666+11G>A (n.3666+11G>A) c.3504+11G>A (n.3504+11G>A) c.3537+11G>A (n.3537+11G>A) | dbSNP |
3 | g.38575287A= | CA1358572505 | SCN5A | c.3663+10T= (n.3663+10T=) c.3666+10T= (n.3666+10T=) c.3504+10T= (n.3504+10T=) c.3537+10T= (n.3537+10T=) | |
3 | g.38575287A>G | CA017388 | SCN5A | c.3663+10T>C (n.3663+10T>C) c.3666+10T>C (n.3666+10T>C) c.3504+10T>C (n.3504+10T>C) c.3537+10T>C (n.3537+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575288G>A | CA542615674 | SCN5A | c.3663+9C>T (n.3663+9C>T) c.3666+9C>T (n.3666+9C>T) c.3504+9C>T (n.3504+9C>T) c.3537+9C>T (n.3537+9C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575288G= | CA1358572506 | SCN5A | c.3663+9C= (n.3663+9C=) c.3666+9C= (n.3666+9C=) c.3504+9C= (n.3504+9C=) c.3537+9C= (n.3537+9C=) | |
3 | g.38575288G>T | CA2665112170 | SCN5A | c.3663+9C>A (n.3663+9C>A) c.3666+9C>A (n.3666+9C>A) c.3504+9C>A (n.3504+9C>A) c.3537+9C>A (n.3537+9C>A) | gnomAD v4 |
3 | g.38575290A= | CA1358572507 | SCN5A | c.3663+7T= (n.3663+7T=) c.3666+7T= (n.3666+7T=) c.3504+7T= (n.3504+7T=) c.3537+7T= (n.3537+7T=) | |
3 | g.38575290A>T | CA062151 | SCN5A | c.3663+7T>A (n.3663+7T>A) c.3666+7T>A (n.3666+7T>A) c.3504+7T>A (n.3504+7T>A) c.3537+7T>A (n.3537+7T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575291G>A | CA2665112171 | SCN5A | c.3663+6C>T (n.3663+6C>T) c.3666+6C>T (n.3666+6C>T) c.3504+6C>T (n.3504+6C>T) c.3537+6C>T (n.3537+6C>T) | gnomAD v4 |
3 | g.38575291G>T | CA2665112172 | SCN5A | c.3663+6C>A (n.3663+6C>A) c.3666+6C>A (n.3666+6C>A) c.3504+6C>A (n.3504+6C>A) c.3537+6C>A (n.3537+6C>A) | gnomAD v4 |
3 | g.38575292G>A | CA2665112173 | SCN5A | c.3663+5C>T (n.3663+5C>T) c.3666+5C>T (n.3666+5C>T) c.3504+5C>T (n.3504+5C>T) c.3537+5C>T (n.3537+5C>T) | gnomAD v4 |
3 | g.38575292G>T | CA2840078010 | SCN5A | c.3663+5C>A (n.3663+5C>A) c.3666+5C>A (n.3666+5C>A) c.3504+5C>A (n.3504+5C>A) c.3537+5C>A (n.3537+5C>A) | |
3 | g.38575293G>A | CA1358572509 | SCN5A | c.3663+4C>T (n.3663+4C>T) c.3666+4C>T (n.3666+4C>T) c.3504+4C>T (n.3504+4C>T) c.3537+4C>T (n.3537+4C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.38575293G>C | CA062147 | SCN5A | c.3663+4C>G (n.3663+4C>G) c.3666+4C>G (n.3666+4C>G) c.3504+4C>G (n.3504+4C>G) c.3537+4C>G (n.3537+4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575293G= | CA1358572508 | SCN5A | c.3663+4C= (n.3663+4C=) c.3666+4C= (n.3666+4C=) c.3504+4C= (n.3504+4C=) c.3537+4C= (n.3537+4C=) | |
3 | g.38575295A= | CA1358572510 | SCN5A | c.3663+2T= (n.3663+2T=) c.3666+2T= (n.3666+2T=) c.3504+2T= (n.3504+2T=) c.3537+2T= (n.3537+2T=) | |
3 | g.38575295A>C | CA352137964 | SCN5A | c.3663+2T>G (n.3663+2T>G) c.3666+2T>G (n.3666+2T>G) c.3504+2T>G (n.3504+2T>G) c.3537+2T>G (n.3537+2T>G) | |
3 | g.38575295A>G | CA352137965 | SCN5A | c.3663+2T>C (n.3663+2T>C) c.3666+2T>C (n.3666+2T>C) c.3504+2T>C (n.3504+2T>C) c.3537+2T>C (n.3537+2T>C) | ClinVar dbSNP |
3 | g.38575295A>T | CA352137966 | SCN5A | c.3663+2T>A (n.3663+2T>A) c.3666+2T>A (n.3666+2T>A) c.3504+2T>A (n.3504+2T>A) c.3537+2T>A (n.3537+2T>A) | |
3 | g.38575296C>A | CA352137967 | SCN5A | c.3663+1G>T (n.3663+1G>T) c.3666+1G>T (n.3666+1G>T) c.3504+1G>T (n.3504+1G>T) c.3537+1G>T (n.3537+1G>T) | |
3 | g.38575296C>G | CA352137968 | SCN5A | c.3663+1G>C (n.3663+1G>C) c.3666+1G>C (n.3666+1G>C) c.3504+1G>C (n.3504+1G>C) c.3537+1G>C (n.3537+1G>C) | |
3 | g.38575296C>T | CA352137969 | SCN5A | c.3663+1G>A (n.3663+1G>A) c.3666+1G>A (n.3666+1G>A) c.3504+1G>A (n.3504+1G>A) c.3537+1G>A (n.3537+1G>A) | |
3 | g.38575297del | CA2586972093 | SCN5A | c.3663+1del c.3666+1del c.3504+1del c.3537+1del | |
3 | g.38575297C>A | CA433134004 | SCN5A | c.3663G>T (p.Leu1221=) c.3666G>T (p.Leu1222=) c.3504G>T (p.Leu1168=) c.3537G>T (p.Leu1179=) | |
3 | g.38575297C= | CA1358572511 | SCN5A | c.3663G= (p.Leu1221=) c.3666G= (p.Leu1222=) c.3504G= (p.Leu1168=) c.3537G= (p.Leu1179=) | |
3 | g.38575297C>G | CA433134003 | SCN5A | c.3663G>C (p.Leu1221=) c.3666G>C (p.Leu1222=) c.3504G>C (p.Leu1168=) c.3537G>C (p.Leu1179=) | |
3 | g.38575297C>T | CA433134002 | SCN5A | c.3663G>A (p.Leu1221=) c.3666G>A (p.Leu1222=) c.3504G>A (p.Leu1168=) c.3537G>A (p.Leu1179=) | dbSNP gnomAD v2 |
3 | g.38575298A>C | CA352137972 | SCN5A | c.3662T>G (p.Leu1221Arg) c.3665T>G (p.Leu1222Arg) c.3503T>G (p.Leu1168Arg) c.3536T>G (p.Leu1179Arg) | ClinVar |
3 | g.38575298A>G | CA352137971 | SCN5A | c.3662T>C (p.Leu1221Pro) c.3665T>C (p.Leu1222Pro) c.3503T>C (p.Leu1168Pro) c.3536T>C (p.Leu1179Pro) | ClinVar |
3 | g.38575298A>T | CA352137970 | SCN5A | c.3662T>A (p.Leu1221Gln) c.3665T>A (p.Leu1222Gln) c.3503T>A (p.Leu1168Gln) c.3536T>A (p.Leu1179Gln) | |
3 | g.38575299G>A | CA433134005 | SCN5A | c.3661C>T (p.Leu1221=) c.3664C>T (p.Leu1222=) c.3502C>T (p.Leu1168=) c.3535C>T (p.Leu1179=) | ClinVar dbSNP |
3 | g.38575299G>C | CA352137973 | SCN5A | c.3661C>G (p.Leu1221Val) c.3664C>G (p.Leu1222Val) c.3502C>G (p.Leu1168Val) c.3535C>G (p.Leu1179Val) | |
3 | g.38575299G= | CA1358572512 | SCN5A | c.3661C= (p.Leu1221=) c.3664C= (p.Leu1222=) c.3502C= (p.Leu1168=) c.3535C= (p.Leu1179=) | |
3 | g.38575299G>T | CA352137974 | SCN5A | c.3661C>A (p.Leu1221Met) c.3664C>A (p.Leu1222Met) c.3502C>A (p.Leu1168Met) c.3535C>A (p.Leu1179Met) | dbSNP gnomAD v4 |
3 | g.38575300C>A | CA433134006 | SCN5A | c.3660G>T (p.Ala1220=) c.3663G>T (p.Ala1221=) c.3501G>T (p.Ala1167=) c.3534G>T (p.Ala1178=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575300C= | CA1358572513 | SCN5A | c.3660G= (p.Ala1220=) c.3663G= (p.Ala1221=) c.3501G= (p.Ala1167=) c.3534G= (p.Ala1178=) | |
3 | g.38575300C>G | CA433134007 | SCN5A | c.3660G>C (p.Ala1220=) c.3663G>C (p.Ala1221=) c.3501G>C (p.Ala1167=) c.3534G>C (p.Ala1178=) | |
3 | g.38575300C>T | CA16604570 | SCN5A | c.3660G>A (p.Ala1220=) c.3663G>A (p.Ala1221=) c.3501G>A (p.Ala1167=) c.3534G>A (p.Ala1178=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575301G>A | CA017382 | SCN5A | c.3659C>T (p.Ala1220Val) c.3662C>T (p.Ala1221Val) c.3500C>T (p.Ala1167Val) c.3533C>T (p.Ala1178Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575301G>C | CA352137975 | SCN5A | c.3659C>G (p.Ala1220Gly) c.3662C>G (p.Ala1221Gly) c.3500C>G (p.Ala1167Gly) c.3533C>G (p.Ala1178Gly) | gnomAD v4 |
3 | g.38575301G= | CA1358572514 | SCN5A | c.3659C= (p.Ala1220=) c.3662C= (p.Ala1221=) c.3500C= (p.Ala1167=) c.3533C= (p.Ala1178=) | |
3 | g.38575301G>T | CA352137976 | SCN5A | c.3659C>A (p.Ala1220Glu) c.3662C>A (p.Ala1221Glu) c.3500C>A (p.Ala1167Glu) c.3533C>A (p.Ala1178Glu) | COSMIC COSMIC COSMIC |
3 | g.38575302C>A | CA352137977 | SCN5A | c.3658G>T (p.Ala1220Ser) c.3661G>T (p.Ala1221Ser) c.3499G>T (p.Ala1167Ser) c.3532G>T (p.Ala1178Ser) | |
3 | g.38575302C= | CA1358572515 | SCN5A | c.3658G= (p.Ala1220=) c.3661G= (p.Ala1221=) c.3499G= (p.Ala1167=) c.3532G= (p.Ala1178=) | |
3 | g.38575302C>G | CA352137978 | SCN5A | c.3658G>C (p.Ala1220Pro) c.3661G>C (p.Ala1221Pro) c.3499G>C (p.Ala1167Pro) c.3532G>C (p.Ala1178Pro) | |
3 | g.38575302C>T | CA352137979 | SCN5A | c.3658G>A (p.Ala1220Thr) c.3661G>A (p.Ala1221Thr) c.3499G>A (p.Ala1167Thr) c.3532G>A (p.Ala1178Thr) | dbSNP gnomAD v4 |
3 | g.38575303T>A | CA433134008 | SCN5A | c.3657A>T (p.Gly1219=) c.3660A>T (p.Gly1220=) c.3498A>T (p.Gly1166=) c.3531A>T (p.Gly1177=) | |
3 | g.38575303T>C | CA433134009 | SCN5A | c.3657A>G (p.Gly1219=) c.3660A>G (p.Gly1220=) c.3498A>G (p.Gly1166=) c.3531A>G (p.Gly1177=) | |
3 | g.38575303T>G | CA433134010 | SCN5A | c.3657A>C (p.Gly1219=) c.3660A>C (p.Gly1220=) c.3498A>C (p.Gly1166=) c.3531A>C (p.Gly1177=) | |
3 | g.38575304C>A | CA352137980 | SCN5A | c.3656G>T (p.Gly1219Val) c.3659G>T (p.Gly1220Val) c.3497G>T (p.Gly1166Val) c.3530G>T (p.Gly1177Val) | |
3 | g.38575304C= | CA1358572516 | SCN5A | c.3656G= (p.Gly1219=) c.3659G= (p.Gly1220=) c.3497G= (p.Gly1166=) c.3530G= (p.Gly1177=) | |
3 | g.38575304C>G | CA352137981 | SCN5A | c.3656G>C (p.Gly1219Ala) c.3659G>C (p.Gly1220Ala) c.3497G>C (p.Gly1166Ala) c.3530G>C (p.Gly1177Ala) | |
3 | g.38575304C>T | CA352137982 | SCN5A | c.3656G>A (p.Gly1219Glu) c.3659G>A (p.Gly1220Glu) c.3497G>A (p.Gly1166Glu) c.3530G>A (p.Gly1177Glu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575305C>A | CA352137983 | SCN5A | c.3655G>T (p.Gly1219Ter) c.3658G>T (p.Gly1220Ter) c.3496G>T (p.Gly1166Ter) c.3529G>T (p.Gly1177Ter) | dbSNP |
3 | g.38575305C= | CA1358572517 | SCN5A | c.3655G= (p.Gly1219=) c.3658G= (p.Gly1220=) c.3496G= (p.Gly1166=) c.3529G= (p.Gly1177=) | |
3 | g.38575305C>G | CA352137984 | SCN5A | c.3655G>C (p.Gly1219Arg) c.3658G>C (p.Gly1220Arg) c.3496G>C (p.Gly1166Arg) c.3529G>C (p.Gly1177Arg) | |
3 | g.38575305C>T | CA352137985 | SCN5A | c.3655G>A (p.Gly1219Arg) c.3658G>A (p.Gly1220Arg) c.3496G>A (p.Gly1166Arg) c.3529G>A (p.Gly1177Arg) | |
3 | g.38575306A= | CA1358572518 | SCN5A | c.3654T= (p.Ser1218=) c.3657T= (p.Ser1219=) c.3495T= (p.Ser1165=) c.3528T= (p.Ser1176=) | |
3 | g.38575306A>C | CA352137987 | SCN5A | c.3654T>G (p.Ser1218Arg) c.3657T>G (p.Ser1219Arg) c.3495T>G (p.Ser1165Arg) c.3528T>G (p.Ser1176Arg) | |
3 | g.38575306A>G | CA062109 | SCN5A | c.3654T>C (p.Ser1218=) c.3657T>C (p.Ser1219=) c.3495T>C (p.Ser1165=) c.3528T>C (p.Ser1176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575306A>T | CA352137986 | SCN5A | c.3654T>A (p.Ser1218Arg) c.3657T>A (p.Ser1219Arg) c.3495T>A (p.Ser1165Arg) c.3528T>A (p.Ser1176Arg) | |
3 | g.38575307C>A | CA352137988 | SCN5A | c.3653G>T (p.Ser1218Ile) c.3656G>T (p.Ser1219Ile) c.3494G>T (p.Ser1165Ile) c.3527G>T (p.Ser1176Ile) | |
3 | g.38575307C= | CA1358572519 | SCN5A | c.3653G= (p.Ser1218=) c.3656G= (p.Ser1219=) c.3494G= (p.Ser1165=) c.3527G= (p.Ser1176=) | |
3 | g.38575307C>G | CA352137989 | SCN5A | c.3653G>C (p.Ser1218Thr) c.3656G>C (p.Ser1219Thr) c.3494G>C (p.Ser1165Thr) c.3527G>C (p.Ser1176Thr) | |
3 | g.38575307C>T | CA017374 | SCN5A | c.3653G>A (p.Ser1218Asn) c.3656G>A (p.Ser1219Asn) c.3494G>A (p.Ser1165Asn) c.3527G>A (p.Ser1176Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.38575308T>A | CA352137990 | SCN5A | c.3652A>T (p.Ser1218Cys) c.3655A>T (p.Ser1219Cys) c.3493A>T (p.Ser1165Cys) c.3526A>T (p.Ser1176Cys) | |
3 | g.38575308T>C | CA352137991 | SCN5A | c.3652A>G (p.Ser1218Gly) c.3655A>G (p.Ser1219Gly) c.3493A>G (p.Ser1165Gly) c.3526A>G (p.Ser1176Gly) | dbSNP |
3 | g.38575308T>G | CA352137992 | SCN5A | c.3652A>C (p.Ser1218Arg) c.3655A>C (p.Ser1219Arg) c.3493A>C (p.Ser1165Arg) c.3526A>C (p.Ser1176Arg) | |
3 | g.38575308T= | CA1358572520 | SCN5A | c.3652A= (p.Ser1218=) c.3655A= (p.Ser1219=) c.3493A= (p.Ser1165=) c.3526A= (p.Ser1176=) | |
3 | g.38575309G>A | CA433134011 | SCN5A | c.3651C>T (p.Ser1217=) c.3654C>T (p.Ser1218=) c.3492C>T (p.Ser1164=) c.3525C>T (p.Ser1175=) | ClinVar |
3 | g.38575309G>C | CA352137993 | SCN5A | c.3651C>G (p.Ser1217Arg) c.3654C>G (p.Ser1218Arg) c.3492C>G (p.Ser1164Arg) c.3525C>G (p.Ser1175Arg) | |
3 | g.38575309G>T | CA352137994 | SCN5A | c.3651C>A (p.Ser1217Arg) c.3654C>A (p.Ser1218Arg) c.3492C>A (p.Ser1164Arg) c.3525C>A (p.Ser1175Arg) | |
3 | g.38575310C>A | CA352137995 | SCN5A | c.3650G>T (p.Ser1217Ile) c.3653G>T (p.Ser1218Ile) c.3491G>T (p.Ser1164Ile) c.3524G>T (p.Ser1175Ile) | ClinVar dbSNP |
3 | g.38575310C= | CA1358572521 | SCN5A | c.3650G= (p.Ser1217=) c.3653G= (p.Ser1218=) c.3491G= (p.Ser1164=) c.3524G= (p.Ser1175=) | |
3 | g.38575310C>G | CA352137996 | SCN5A | c.3650G>C (p.Ser1217Thr) c.3653G>C (p.Ser1218Thr) c.3491G>C (p.Ser1164Thr) c.3524G>C (p.Ser1175Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575310C>T | CA352137997 | SCN5A | c.3650G>A (p.Ser1217Asn) c.3653G>A (p.Ser1218Asn) c.3491G>A (p.Ser1164Asn) c.3524G>A (p.Ser1175Asn) | |
3 | g.38575311T>A | CA352138000 | SCN5A | c.3649A>T (p.Ser1217Cys) c.3652A>T (p.Ser1218Cys) c.3490A>T (p.Ser1164Cys) c.3523A>T (p.Ser1175Cys) | |
3 | g.38575311T>C | CA352137999 | SCN5A | c.3649A>G (p.Ser1217Gly) c.3652A>G (p.Ser1218Gly) c.3490A>G (p.Ser1164Gly) c.3523A>G (p.Ser1175Gly) | |
3 | g.38575311T>G | CA352137998 | SCN5A | c.3649A>C (p.Ser1217Arg) c.3652A>C (p.Ser1218Arg) c.3490A>C (p.Ser1164Arg) c.3523A>C (p.Ser1175Arg) | |
3 | g.38575312G>A | CA433134014 | SCN5A | c.3648C>T (p.Leu1216=) c.3651C>T (p.Leu1217=) c.3489C>T (p.Leu1163=) c.3522C>T (p.Leu1174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575312G>C | CA433134013 | SCN5A | c.3648C>G (p.Leu1216=) c.3651C>G (p.Leu1217=) c.3489C>G (p.Leu1163=) c.3522C>G (p.Leu1174=) | dbSNP |
3 | g.38575312G= | CA1358572522 | SCN5A | c.3648C= (p.Leu1216=) c.3651C= (p.Leu1217=) c.3489C= (p.Leu1163=) c.3522C= (p.Leu1174=) | |
3 | g.38575312G>T | CA433134012 | SCN5A | c.3648C>A (p.Leu1216=) c.3651C>A (p.Leu1217=) c.3489C>A (p.Leu1163=) c.3522C>A (p.Leu1174=) | |
3 | g.38575313A= | CA1358572523 | SCN5A | c.3647T= (p.Leu1216=) c.3650T= (p.Leu1217=) c.3488T= (p.Leu1163=) c.3521T= (p.Leu1174=) | |
3 | g.38575313A>C | CA017365 | SCN5A | c.3647T>G (p.Leu1216Arg) c.3650T>G (p.Leu1217Arg) c.3488T>G (p.Leu1163Arg) c.3521T>G (p.Leu1174Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575313A>G | CA352138001 | SCN5A | c.3647T>C (p.Leu1216Pro) c.3650T>C (p.Leu1217Pro) c.3488T>C (p.Leu1163Pro) c.3521T>C (p.Leu1174Pro) | |
3 | g.38575313A>T | CA352138002 | SCN5A | c.3647T>A (p.Leu1216His) c.3650T>A (p.Leu1217His) c.3488T>A (p.Leu1163His) c.3521T>A (p.Leu1174His) | |
3 | g.38575314G>A | CA352138003 | SCN5A | c.3646C>T (p.Leu1216Phe) c.3649C>T (p.Leu1217Phe) c.3487C>T (p.Leu1163Phe) c.3520C>T (p.Leu1174Phe) | gnomAD v4 |
3 | g.38575314G>C | CA352138004 | SCN5A | c.3646C>G (p.Leu1216Val) c.3649C>G (p.Leu1217Val) c.3487C>G (p.Leu1163Val) c.3520C>G (p.Leu1174Val) | |
3 | g.38575314G>T | CA352138005 | SCN5A | c.3646C>A (p.Leu1216Ile) c.3649C>A (p.Leu1217Ile) c.3487C>A (p.Leu1163Ile) c.3520C>A (p.Leu1174Ile) | |
3 | g.38575315T>A | CA433134015 | SCN5A | c.3645A>T (p.Leu1215=) c.3648A>T (p.Leu1216=) c.3486A>T (p.Leu1162=) c.3519A>T (p.Leu1173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575315T>C | CA062103 | SCN5A | c.3645A>G (p.Leu1215=) c.3648A>G (p.Leu1216=) c.3486A>G (p.Leu1162=) c.3519A>G (p.Leu1173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575315T>G | CA72923146 | SCN5A | c.3645A>C (p.Leu1215=) c.3648A>C (p.Leu1216=) c.3486A>C (p.Leu1162=) c.3519A>C (p.Leu1173=) | dbSNP gnomAD v4 |
3 | g.38575315T= | CA1358572524 | SCN5A | c.3645A= (p.Leu1215=) c.3648A= (p.Leu1216=) c.3486A= (p.Leu1162=) c.3519A= (p.Leu1173=) | |
3 | g.38575316A>C | CA352138006 | SCN5A | c.3644T>G (p.Leu1215Arg) c.3647T>G (p.Leu1216Arg) c.3485T>G (p.Leu1162Arg) c.3518T>G (p.Leu1173Arg) | |
3 | g.38575316A>G | CA352138007 | SCN5A | c.3644T>C (p.Leu1215Pro) c.3647T>C (p.Leu1216Pro) c.3485T>C (p.Leu1162Pro) c.3518T>C (p.Leu1173Pro) | ClinVar gnomAD v4 |
3 | g.38575316A>T | CA352138008 | SCN5A | c.3644T>A (p.Leu1215Gln) c.3647T>A (p.Leu1216Gln) c.3485T>A (p.Leu1162Gln) c.3518T>A (p.Leu1173Gln) | |
3 | g.38575317G>A | CA72923149 | SCN5A | c.3643C>T (p.Leu1215=) c.3646C>T (p.Leu1216=) c.3484C>T (p.Leu1162=) c.3517C>T (p.Leu1173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575317G>C | CA352138009 | SCN5A | c.3643C>G (p.Leu1215Val) c.3646C>G (p.Leu1216Val) c.3484C>G (p.Leu1162Val) c.3517C>G (p.Leu1173Val) | dbSNP gnomAD v4 |
3 | g.38575317G= | CA1358572525 | SCN5A | c.3643C= (p.Leu1215=) c.3646C= (p.Leu1216=) c.3484C= (p.Leu1162=) c.3517C= (p.Leu1173=) | |
3 | g.38575317G>T | CA352138010 | SCN5A | c.3643C>A (p.Leu1215Ile) c.3646C>A (p.Leu1216Ile) c.3484C>A (p.Leu1162Ile) c.3517C>A (p.Leu1173Ile) | |
3 | g.38575318G>A | CA433134017 | SCN5A | c.3642C>T (p.Ile1214=) c.3645C>T (p.Ile1215=) c.3483C>T (p.Ile1161=) c.3516C>T (p.Ile1172=) | |
3 | g.38575318G>C | CA352138011 | SCN5A | c.3642C>G (p.Ile1214Met) c.3645C>G (p.Ile1215Met) c.3483C>G (p.Ile1161Met) c.3516C>G (p.Ile1172Met) | |
3 | g.38575318G>T | CA433134018 | SCN5A | c.3642C>A (p.Ile1214=) c.3645C>A (p.Ile1215=) c.3483C>A (p.Ile1161=) c.3516C>A (p.Ile1172=) | |
3 | g.38575319A>C | CA352138013 | SCN5A | c.3641T>G (p.Ile1214Ser) c.3644T>G (p.Ile1215Ser) c.3482T>G (p.Ile1161Ser) c.3515T>G (p.Ile1172Ser) | |
3 | g.38575319A>G | CA352138012 | SCN5A | c.3641T>C (p.Ile1214Thr) c.3644T>C (p.Ile1215Thr) c.3482T>C (p.Ile1161Thr) c.3515T>C (p.Ile1172Thr) | |
3 | g.38575319A>T | CA352138014 | SCN5A | c.3641T>A (p.Ile1214Asn) c.3644T>A (p.Ile1215Asn) c.3482T>A (p.Ile1161Asn) c.3515T>A (p.Ile1172Asn) | |
3 | g.38575320T>A | CA352138015 | SCN5A | c.3640A>T (p.Ile1214Phe) c.3643A>T (p.Ile1215Phe) c.3481A>T (p.Ile1161Phe) c.3514A>T (p.Ile1172Phe) | |
3 | g.38575320T>C | CA062097 | SCN5A | c.3640A>G (p.Ile1214Val) c.3643A>G (p.Ile1215Val) c.3481A>G (p.Ile1161Val) c.3514A>G (p.Ile1172Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575320T>G | CA352138016 | SCN5A | c.3640A>C (p.Ile1214Leu) c.3643A>C (p.Ile1215Leu) c.3481A>C (p.Ile1161Leu) c.3514A>C (p.Ile1172Leu) | |
3 | g.38575320T= | CA1358572526 | SCN5A | c.3640A= (p.Ile1214=) c.3643A= (p.Ile1215=) c.3481A= (p.Ile1161=) c.3514A= (p.Ile1172=) | |
3 | g.38575321C>A | CA352138018 | SCN5A | c.3639G>T (p.Met1213Ile) c.3642G>T (p.Met1214Ile) c.3480G>T (p.Met1160Ile) c.3513G>T (p.Met1171Ile) | |
3 | g.38575321C>G | CA352138019 | SCN5A | c.3639G>C (p.Met1213Ile) c.3642G>C (p.Met1214Ile) c.3480G>C (p.Met1160Ile) c.3513G>C (p.Met1171Ile) | |
3 | g.38575321C>T | CA352138020 | SCN5A | c.3639G>A (p.Met1213Ile) c.3642G>A (p.Met1214Ile) c.3480G>A (p.Met1160Ile) c.3513G>A (p.Met1171Ile) | |
3 | g.38575322A= | CA1358572527 | SCN5A | c.3638T= (p.Met1213=) c.3641T= (p.Met1214=) c.3479T= (p.Met1160=) c.3512T= (p.Met1171=) | |
3 | g.38575322A>C | CA352138022 | SCN5A | c.3638T>G (p.Met1213Arg) c.3641T>G (p.Met1214Arg) c.3479T>G (p.Met1160Arg) c.3512T>G (p.Met1171Arg) | |
3 | g.38575322A>G | CA16611463 | SCN5A | c.3638T>C (p.Met1213Thr) c.3641T>C (p.Met1214Thr) c.3479T>C (p.Met1160Thr) c.3512T>C (p.Met1171Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38575322A>T | CA352138021 | SCN5A | c.3638T>A (p.Met1213Lys) c.3641T>A (p.Met1214Lys) c.3479T>A (p.Met1160Lys) c.3512T>A (p.Met1171Lys) | |
3 | g.38575323T>A | CA352138023 | SCN5A | c.3637A>T (p.Met1213Leu) c.3640A>T (p.Met1214Leu) c.3478A>T (p.Met1160Leu) c.3511A>T (p.Met1171Leu) | |
3 | g.38575323T>C | CA352138024 | SCN5A | c.3637A>G (p.Met1213Val) c.3640A>G (p.Met1214Val) c.3478A>G (p.Met1160Val) c.3511A>G (p.Met1171Val) | ClinVar gnomAD v4 |
3 | g.38575323T>G | CA352138025 | SCN5A | c.3637A>C (p.Met1213Leu) c.3640A>C (p.Met1214Leu) c.3478A>C (p.Met1160Leu) c.3511A>C (p.Met1171Leu) | |
3 | g.38575324G>A | CA72923155 | SCN5A | c.3636C>T (p.Phe1212=) c.3639C>T (p.Phe1213=) c.3477C>T (p.Phe1159=) c.3510C>T (p.Phe1170=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575324G>C | CA352138026 | SCN5A | c.3636C>G (p.Phe1212Leu) c.3639C>G (p.Phe1213Leu) c.3477C>G (p.Phe1159Leu) c.3510C>G (p.Phe1170Leu) | |
3 | g.38575324G= | CA1358572528 | SCN5A | c.3636C= (p.Phe1212=) c.3639C= (p.Phe1213=) c.3477C= (p.Phe1159=) c.3510C= (p.Phe1170=) | |
3 | g.38575324G>T | CA352138027 | SCN5A | c.3636C>A (p.Phe1212Leu) c.3639C>A (p.Phe1213Leu) c.3477C>A (p.Phe1159Leu) c.3510C>A (p.Phe1170Leu) | ClinVar dbSNP |
3 | g.38575325A>C | CA352138028 | SCN5A | c.3635T>G (p.Phe1212Cys) c.3638T>G (p.Phe1213Cys) c.3476T>G (p.Phe1159Cys) c.3509T>G (p.Phe1170Cys) | |
3 | g.38575325A>G | CA352138030 | SCN5A | c.3635T>C (p.Phe1212Ser) c.3638T>C (p.Phe1213Ser) c.3476T>C (p.Phe1159Ser) c.3509T>C (p.Phe1170Ser) | |
3 | g.38575325A>T | CA352138029 | SCN5A | c.3635T>A (p.Phe1212Tyr) c.3638T>A (p.Phe1213Tyr) c.3476T>A (p.Phe1159Tyr) c.3509T>A (p.Phe1170Tyr) | |
3 | g.38575326A= | CA1358572529 | SCN5A | c.3634T= (p.Phe1212=) c.3637T= (p.Phe1213=) c.3475T= (p.Phe1159=) c.3508T= (p.Phe1170=) | |
3 | g.38575326A>C | CA352138031 | SCN5A | c.3634T>G (p.Phe1212Val) c.3637T>G (p.Phe1213Val) c.3475T>G (p.Phe1159Val) c.3508T>G (p.Phe1170Val) | ClinVar dbSNP |
3 | g.38575326A>G | CA352138032 | SCN5A | c.3634T>C (p.Phe1212Leu) c.3637T>C (p.Phe1213Leu) c.3475T>C (p.Phe1159Leu) c.3508T>C (p.Phe1170Leu) | |
3 | g.38575326A>T | CA352138033 | SCN5A | c.3634T>A (p.Phe1212Ile) c.3637T>A (p.Phe1213Ile) c.3475T>A (p.Phe1159Ile) c.3508T>A (p.Phe1170Ile) | |
3 | g.38575326_38575329delinsAGAT | CA1358572530 | SCN5A | c.3631_3634delinsATCT (p.Ile1211=) c.3634_3637delinsATCT (p.Ile1212=) c.3472_3475delinsATCT (p.Ile1158=) c.3505_3508delinsATCT (p.Ile1169=) | |
3 | g.38575327G>A | CA433134020 | SCN5A | c.3633C>T (p.Ile1211=) c.3636C>T (p.Ile1212=) c.3474C>T (p.Ile1158=) c.3507C>T (p.Ile1169=) | |
3 | g.38575327G>C | CA352138034 | SCN5A | c.3633C>G (p.Ile1211Met) c.3636C>G (p.Ile1212Met) c.3474C>G (p.Ile1158Met) c.3507C>G (p.Ile1169Met) | |
3 | g.38575327G>T | CA433134019 | SCN5A | c.3633C>A (p.Ile1211=) c.3636C>A (p.Ile1212=) c.3474C>A (p.Ile1158=) c.3507C>A (p.Ile1169=) | |
3 | g.38575332_38575334del | CA017359 | SCN5A | c.3631_3633del (p.Ile1211del) c.3634_3636del (p.Ile1212del) c.3472_3474del (p.Ile1158del) c.3505_3507del (p.Ile1169del) | ClinVar dbSNP |
3 | g.38575328A>C | CA352138035 | SCN5A | c.3632T>G (p.Ile1211Ser) c.3635T>G (p.Ile1212Ser) c.3473T>G (p.Ile1158Ser) c.3506T>G (p.Ile1169Ser) | gnomAD v4 |
3 | g.38575328A>G | CA352138036 | SCN5A | c.3632T>C (p.Ile1211Thr) c.3635T>C (p.Ile1212Thr) c.3473T>C (p.Ile1158Thr) c.3506T>C (p.Ile1169Thr) | |
3 | g.38575328A>T | CA352138037 | SCN5A | c.3632T>A (p.Ile1211Asn) c.3635T>A (p.Ile1212Asn) c.3473T>A (p.Ile1158Asn) c.3506T>A (p.Ile1169Asn) | gnomAD v4 |
3 | g.38575329T>A | CA352138038 | SCN5A | c.3631A>T (p.Ile1211Phe) c.3634A>T (p.Ile1212Phe) c.3472A>T (p.Ile1158Phe) c.3505A>T (p.Ile1169Phe) | |
3 | g.38575329T>C | CA352138039 | SCN5A | c.3631A>G (p.Ile1211Val) c.3634A>G (p.Ile1212Val) c.3472A>G (p.Ile1158Val) c.3505A>G (p.Ile1169Val) | |
3 | g.38575329T>G | CA352138040 | SCN5A | c.3631A>C (p.Ile1211Leu) c.3634A>C (p.Ile1212Leu) c.3472A>C (p.Ile1158Leu) c.3505A>C (p.Ile1169Leu) | |
3 | g.38575330G>A | CA433134021 | SCN5A | c.3630C>T (p.Ile1210=) c.3633C>T (p.Ile1211=) c.3471C>T (p.Ile1157=) c.3504C>T (p.Ile1168=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38575330G>C | CA352138041 | SCN5A | c.3630C>G (p.Ile1210Met) c.3633C>G (p.Ile1211Met) c.3471C>G (p.Ile1157Met) c.3504C>G (p.Ile1168Met) | |
3 | g.38575330G= | CA1358572531 | SCN5A | c.3630C= (p.Ile1210=) c.3633C= (p.Ile1211=) c.3471C= (p.Ile1157=) c.3504C= (p.Ile1168=) | |
3 | g.38575330G>T | CA433134022 | SCN5A | c.3630C>A (p.Ile1210=) c.3633C>A (p.Ile1211=) c.3471C>A (p.Ile1157=) c.3504C>A (p.Ile1168=) | |
3 | g.38575331A>C | CA352138044 | SCN5A | c.3629T>G (p.Ile1210Ser) c.3632T>G (p.Ile1211Ser) c.3470T>G (p.Ile1157Ser) c.3503T>G (p.Ile1168Ser) | |
3 | g.38575331A>G | CA352138042 | SCN5A | c.3629T>C (p.Ile1210Thr) c.3632T>C (p.Ile1211Thr) c.3470T>C (p.Ile1157Thr) c.3503T>C (p.Ile1168Thr) | gnomAD v4 |
3 | g.38575331A>T | CA352138043 | SCN5A | c.3629T>A (p.Ile1210Asn) c.3632T>A (p.Ile1211Asn) c.3470T>A (p.Ile1157Asn) c.3503T>A (p.Ile1168Asn) | gnomAD v4 |
3 | g.38575332T>A | CA352138045 | SCN5A | c.3628A>T (p.Ile1210Phe) c.3631A>T (p.Ile1211Phe) c.3469A>T (p.Ile1157Phe) c.3502A>T (p.Ile1168Phe) | |
3 | g.38575332T>C | CA352138046 | SCN5A | c.3628A>G (p.Ile1210Val) c.3631A>G (p.Ile1211Val) c.3469A>G (p.Ile1157Val) c.3502A>G (p.Ile1168Val) | |
3 | g.38575332T>G | CA352138047 | SCN5A | c.3628A>C (p.Ile1210Leu) c.3631A>C (p.Ile1211Leu) c.3469A>C (p.Ile1157Leu) c.3502A>C (p.Ile1168Leu) | |
3 | g.38575333G>A | CA72923163 | SCN5A | c.3627C>T (p.Phe1209=) c.3630C>T (p.Phe1210=) c.3468C>T (p.Phe1156=) c.3501C>T (p.Phe1167=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575333G>C | CA352138048 | SCN5A | c.3627C>G (p.Phe1209Leu) c.3630C>G (p.Phe1210Leu) c.3468C>G (p.Phe1156Leu) c.3501C>G (p.Phe1167Leu) | gnomAD v4 |
3 | g.38575333G= | CA1358572532 | SCN5A | c.3627C= (p.Phe1209=) c.3630C= (p.Phe1210=) c.3468C= (p.Phe1156=) c.3501C= (p.Phe1167=) | |
3 | g.38575333G>T | CA352138049 | SCN5A | c.3627C>A (p.Phe1209Leu) c.3630C>A (p.Phe1210Leu) c.3468C>A (p.Phe1156Leu) c.3501C>A (p.Phe1167Leu) | |
3 | g.38575334A= | CA1358572533 | SCN5A | c.3626T= (p.Phe1209=) c.3629T= (p.Phe1210=) c.3467T= (p.Phe1156=) c.3500T= (p.Phe1167=) | |
3 | g.38575334A>C | CA352138050 | SCN5A | c.3626T>G (p.Phe1209Cys) c.3629T>G (p.Phe1210Cys) c.3467T>G (p.Phe1156Cys) c.3500T>G (p.Phe1167Cys) | ClinVar |
3 | g.38575334A>G | CA017347 | SCN5A | c.3626T>C (p.Phe1209Ser) c.3629T>C (p.Phe1210Ser) c.3467T>C (p.Phe1156Ser) c.3500T>C (p.Phe1167Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38575334A>T | CA352138051 | SCN5A | c.3626T>A (p.Phe1209Tyr) c.3629T>A (p.Phe1210Tyr) c.3467T>A (p.Phe1156Tyr) c.3500T>A (p.Phe1167Tyr) | |
3 | g.38575335A= | CA1358572534 | SCN5A | c.3625T= (p.Phe1209=) c.3628T= (p.Phe1210=) c.3466T= (p.Phe1156=) c.3499T= (p.Phe1167=) | |
3 | g.38575335A>C | CA352138052 | SCN5A | c.3625T>G (p.Phe1209Val) c.3628T>G (p.Phe1210Val) c.3466T>G (p.Phe1156Val) c.3499T>G (p.Phe1167Val) | |
3 | g.38575335A>G | CA352138053 | SCN5A | c.3625T>C (p.Phe1209Leu) c.3628T>C (p.Phe1210Leu) c.3466T>C (p.Phe1156Leu) c.3499T>C (p.Phe1167Leu) | dbSNP |
3 | g.38575335A>T | CA352138054 | SCN5A | c.3625T>A (p.Phe1209Ile) c.3628T>A (p.Phe1210Ile) c.3466T>A (p.Phe1156Ile) c.3499T>A (p.Phe1167Ile) | |
3 | g.38575336T>A | CA433134023 | SCN5A | c.3624A>T (p.Thr1208=) c.3627A>T (p.Thr1209=) c.3465A>T (p.Thr1155=) c.3498A>T (p.Thr1166=) | ClinVar dbSNP |
3 | g.38575336T>C | CA433134024 | SCN5A | c.3624A>G (p.Thr1208=) c.3627A>G (p.Thr1209=) c.3465A>G (p.Thr1155=) c.3498A>G (p.Thr1166=) | ClinVar dbSNP gnomAD v4 |
3 | g.38575336T>G | CA433134025 | SCN5A | c.3624A>C (p.Thr1208=) c.3627A>C (p.Thr1209=) c.3465A>C (p.Thr1155=) c.3498A>C (p.Thr1166=) | |
3 | g.38575336T= | CA1358572535 | SCN5A | c.3624A= (p.Thr1208=) c.3627A= (p.Thr1209=) c.3465A= (p.Thr1155=) c.3498A= (p.Thr1166=) | |
3 | g.38575337G>A | CA352138057 | SCN5A | c.3623C>T (p.Thr1208Ile) c.3626C>T (p.Thr1209Ile) c.3464C>T (p.Thr1155Ile) c.3497C>T (p.Thr1166Ile) | dbSNP |
3 | g.38575337G>C | CA352138055 | SCN5A | c.3623C>G (p.Thr1208Arg) c.3626C>G (p.Thr1209Arg) c.3464C>G (p.Thr1155Arg) c.3497C>G (p.Thr1166Arg) | |
3 | g.38575337G= | CA1358572536 | SCN5A | c.3623C= (p.Thr1208=) c.3626C= (p.Thr1209=) c.3464C= (p.Thr1155=) c.3497C= (p.Thr1166=) | |
3 | g.38575337G>T | CA352138056 | SCN5A | c.3623C>A (p.Thr1208Lys) c.3626C>A (p.Thr1209Lys) c.3464C>A (p.Thr1155Lys) c.3497C>A (p.Thr1166Lys) | |
3 | g.38575338T>A | CA352138058 | SCN5A | c.3622A>T (p.Thr1208Ser) c.3625A>T (p.Thr1209Ser) c.3463A>T (p.Thr1155Ser) c.3496A>T (p.Thr1166Ser) | |
3 | g.38575338T>C | CA352138059 | SCN5A | c.3622A>G (p.Thr1208Ala) c.3625A>G (p.Thr1209Ala) c.3463A>G (p.Thr1155Ala) c.3496A>G (p.Thr1166Ala) | gnomAD v4 |
3 | g.38575338T>G | CA352138060 | SCN5A | c.3622A>C (p.Thr1208Pro) c.3625A>C (p.Thr1209Pro) c.3463A>C (p.Thr1155Pro) c.3496A>C (p.Thr1166Pro) | |
3 | g.38575339C>A | CA352138061 | SCN5A | c.3621G>T (p.Glu1207Asp) c.3624G>T (p.Glu1208Asp) c.3462G>T (p.Glu1154Asp) c.3495G>T (p.Glu1165Asp) | |
3 | g.38575339C= | CA1358572537 | SCN5A | c.3621G= (p.Glu1207=) c.3624G= (p.Glu1208=) c.3462G= (p.Glu1154=) c.3495G= (p.Glu1165=) | |
3 | g.38575339C>G | CA352138062 | SCN5A | c.3621G>C (p.Glu1207Asp) c.3624G>C (p.Glu1208Asp) c.3462G>C (p.Glu1154Asp) c.3495G>C (p.Glu1165Asp) | |
3 | g.38575339C>T | CA433134026 | SCN5A | c.3621G>A (p.Glu1207=) c.3624G>A (p.Glu1208=) c.3462G>A (p.Glu1154=) c.3495G>A (p.Glu1165=) | dbSNP |
3 | g.38575340T>A | CA352138063 | SCN5A | c.3620A>T (p.Glu1207Val) c.3623A>T (p.Glu1208Val) c.3461A>T (p.Glu1154Val) c.3494A>T (p.Glu1165Val) | |
3 | g.38575340T>C | CA352138064 | SCN5A | c.3620A>G (p.Glu1207Gly) c.3623A>G (p.Glu1208Gly) c.3461A>G (p.Glu1154Gly) c.3494A>G (p.Glu1165Gly) | COSMIC COSMIC COSMIC |
3 | g.38575340T>G | CA352138065 | SCN5A | c.3620A>C (p.Glu1207Ala) c.3623A>C (p.Glu1208Ala) c.3461A>C (p.Glu1154Ala) c.3494A>C (p.Glu1165Ala) | |
3 | g.38575341C>A | CA10602904 | SCN5A | c.3619G>T (p.Glu1207Ter) c.3622G>T (p.Glu1208Ter) c.3460G>T (p.Glu1154Ter) c.3493G>T (p.Glu1165Ter) | ClinVar dbSNP |
3 | g.38575341C= | CA1358572538 | SCN5A | c.3619G= (p.Glu1207=) c.3622G= (p.Glu1208=) c.3460G= (p.Glu1154=) c.3493G= (p.Glu1165=) | |
3 | g.38575341C>G | CA352138066 | SCN5A | c.3619G>C (p.Glu1207Gln) c.3622G>C (p.Glu1208Gln) c.3460G>C (p.Glu1154Gln) c.3493G>C (p.Glu1165Gln) | |
3 | g.38575341C>T | CA062091 | SCN5A | c.3619G>A (p.Glu1207Lys) c.3622G>A (p.Glu1208Lys) c.3460G>A (p.Glu1154Lys) c.3493G>A (p.Glu1165Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575342G>A | CA017335 | SCN5A | c.3618C>T (p.Phe1206=) c.3621C>T (p.Phe1207=) c.3459C>T (p.Phe1153=) c.3492C>T (p.Phe1164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38575342G>C | CA352138068 | SCN5A | c.3618C>G (p.Phe1206Leu) c.3621C>G (p.Phe1207Leu) c.3459C>G (p.Phe1153Leu) c.3492C>G (p.Phe1164Leu) | |
3 | g.38575342G= | CA1358572539 | SCN5A | c.3618C= (p.Phe1206=) c.3621C= (p.Phe1207=) c.3459C= (p.Phe1153=) c.3492C= (p.Phe1164=) | |
3 | g.38575342G>T | CA352138067 | SCN5A | c.3618C>A (p.Phe1206Leu) c.3621C>A (p.Phe1207Leu) c.3459C>A (p.Phe1153Leu) c.3492C>A (p.Phe1164Leu) | |
3 | g.38575343A>C | CA352138069 | SCN5A | c.3617T>G (p.Phe1206Cys) c.3620T>G (p.Phe1207Cys) c.3458T>G (p.Phe1153Cys) c.3491T>G (p.Phe1164Cys) | |
3 | g.38575343A>G | CA352138071 | SCN5A | c.3617T>C (p.Phe1206Ser) c.3620T>C (p.Phe1207Ser) c.3458T>C (p.Phe1153Ser) c.3491T>C (p.Phe1164Ser) | |
3 | g.38575343A>T | CA352138070 | SCN5A | c.3617T>A (p.Phe1206Tyr) c.3620T>A (p.Phe1207Tyr) c.3458T>A (p.Phe1153Tyr) c.3491T>A (p.Phe1164Tyr) | |
3 | g.38575344A>C | CA352138072 | SCN5A | c.3616T>G (p.Phe1206Val) c.3619T>G (p.Phe1207Val) c.3457T>G (p.Phe1153Val) c.3490T>G (p.Phe1164Val) | |
3 | g.38575344A>G | CA352138074 | SCN5A | c.3616T>C (p.Phe1206Leu) c.3619T>C (p.Phe1207Leu) c.3457T>C (p.Phe1153Leu) c.3490T>C (p.Phe1164Leu) | |
3 | g.38575344A>T | CA352138073 | SCN5A | c.3616T>A (p.Phe1206Ile) c.3619T>A (p.Phe1207Ile) c.3457T>A (p.Phe1153Ile) c.3490T>A (p.Phe1164Ile) | |
3 | g.38575344_38575345insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG | CA2665112174 | SCN5A | c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSerLeuThrHisGlu) c.3489_3490insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA (p.Trp1163_Phe1164insArgProGlyGluProTrpAlaSerLeuThrHisGlu) | gnomAD v4 |
3 | g.38575345C>A | CA017325 | SCN5A | c.3615G>T (p.Trp1205Cys) c.3618G>T (p.Trp1206Cys) c.3456G>T (p.Trp1152Cys) c.3489G>T (p.Trp1163Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575345C= | CA1358572540 | SCN5A | c.3615G= (p.Trp1205=) c.3618G= (p.Trp1206=) c.3456G= (p.Trp1152=) c.3489G= (p.Trp1163=) | |
3 | g.38575345C>G | CA352138075 | SCN5A | c.3615G>C (p.Trp1205Cys) c.3618G>C (p.Trp1206Cys) c.3456G>C (p.Trp1152Cys) c.3489G>C (p.Trp1163Cys) | |
3 | g.38575345C>T | CA352138076 | SCN5A | c.3615G>A (p.Trp1205Ter) c.3618G>A (p.Trp1206Ter) c.3456G>A (p.Trp1152Ter) c.3489G>A (p.Trp1163Ter) | dbSNP |
3 | g.38575346C>A | CA352138077 | SCN5A | c.3614G>T (p.Trp1205Leu) c.3617G>T (p.Trp1206Leu) c.3455G>T (p.Trp1152Leu) c.3488G>T (p.Trp1163Leu) | |
3 | g.38575346C>G | CA352138078 | SCN5A | c.3614G>C (p.Trp1205Ser) c.3617G>C (p.Trp1206Ser) c.3455G>C (p.Trp1152Ser) c.3488G>C (p.Trp1163Ser) | |
3 | g.38575346C>T | CA352138079 | SCN5A | c.3614G>A (p.Trp1205Ter) c.3617G>A (p.Trp1206Ter) c.3455G>A (p.Trp1152Ter) c.3488G>A (p.Trp1163Ter) | COSMIC COSMIC COSMIC |
3 | g.38575347A= | CA1358572541 | SCN5A | c.3613T= (p.Trp1205=) c.3616T= (p.Trp1206=) c.3454T= (p.Trp1152=) c.3487T= (p.Trp1163=) | |
3 | g.38575347A>C | CA352138082 | SCN5A | c.3613T>G (p.Trp1205Gly) c.3616T>G (p.Trp1206Gly) c.3454T>G (p.Trp1152Gly) c.3487T>G (p.Trp1163Gly) | |
3 | g.38575347A>G | CA352138080 | SCN5A | c.3613T>C (p.Trp1205Arg) c.3616T>C (p.Trp1206Arg) c.3454T>C (p.Trp1152Arg) c.3487T>C (p.Trp1163Arg) | gnomAD v4 |
3 | g.38575347A>T | CA352138081 | SCN5A | c.3613T>A (p.Trp1205Arg) c.3616T>A (p.Trp1206Arg) c.3454T>A (p.Trp1152Arg) c.3487T>A (p.Trp1163Arg) | dbSNP |
3 | g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCG | CA1358572542 | SCN5A | c.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=) c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=) c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=) c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=) | |
3 | g.38575348G>A | CA433134027 | SCN5A | c.3612C>T (p.Ser1204=) c.3615C>T (p.Ser1205=) c.3453C>T (p.Ser1151=) c.3486C>T (p.Ser1162=) | gnomAD v4 |
3 | g.38575348G>C | CA352138083 | SCN5A | c.3612C>G (p.Ser1204Arg) c.3615C>G (p.Ser1205Arg) c.3453C>G (p.Ser1151Arg) c.3486C>G (p.Ser1162Arg) | |
3 | g.38575348G>T | CA352138084 | SCN5A | c.3612C>A (p.Ser1204Arg) c.3615C>A (p.Ser1205Arg) c.3453C>A (p.Ser1151Arg) c.3486C>A (p.Ser1162Arg) | |
3 | g.38575348_38575386del | CA1047000738 | SCN5A | c.3574_3612del (p.Arg1192_Ser1204del) c.3577_3615del (p.Arg1193_Ser1205del) c.3415_3453del (p.Arg1139_Ser1151del) c.3448_3486del (p.Arg1150_Ser1162del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38575349C>A | CA352138085 | SCN5A | c.3611G>T (p.Ser1204Ile) c.3614G>T (p.Ser1205Ile) c.3452G>T (p.Ser1151Ile) c.3485G>T (p.Ser1162Ile) | |
3 | g.38575349C>G | CA352138086 | SCN5A | c.3611G>C (p.Ser1204Thr) c.3614G>C (p.Ser1205Thr) c.3452G>C (p.Ser1151Thr) c.3485G>C (p.Ser1162Thr) | |
3 | g.38575349C>T | CA352138087 | SCN5A | c.3611G>A (p.Ser1204Asn) c.3614G>A (p.Ser1205Asn) c.3452G>A (p.Ser1151Asn) c.3485G>A (p.Ser1162Asn) | |
3 | g.38575350T>A | CA352138088 | SCN5A | c.3610A>T (p.Ser1204Cys) c.3613A>T (p.Ser1205Cys) c.3451A>T (p.Ser1151Cys) c.3484A>T (p.Ser1162Cys) | |
3 | g.38575350T>C | CA352138090 | SCN5A | c.3610A>G (p.Ser1204Gly) c.3613A>G (p.Ser1205Gly) c.3451A>G (p.Ser1151Gly) c.3484A>G (p.Ser1162Gly) | gnomAD v4 |
3 | g.38575350T>G | CA352138089 | SCN5A | c.3610A>C (p.Ser1204Arg) c.3613A>C (p.Ser1205Arg) c.3451A>C (p.Ser1151Arg) c.3484A>C (p.Ser1162Arg) | |
3 | g.38575351G>A | CA062087 | SCN5A | c.3609C>T (p.His1203=) c.3612C>T (p.His1204=) c.3450C>T (p.His1150=) c.3483C>T (p.His1161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38575351G>C | CA352138091 | SCN5A | c.3609C>G (p.His1203Gln) c.3612C>G (p.His1204Gln) c.3450C>G (p.His1150Gln) c.3483C>G (p.His1161Gln) | gnomAD v4 |
3 | g.38575351G= | CA1358572543 | SCN5A | c.3609C= (p.His1203=) c.3612C= (p.His1204=) c.3450C= (p.His1150=) c.3483C= (p.His1161=) | |
3 | g.38575351G>T | CA352138092 | SCN5A | c.3609C>A (p.His1203Gln) c.3612C>A (p.His1204Gln) c.3450C>A (p.His1150Gln) c.3483C>A (p.His1161Gln) | ClinVar dbSNP |
3 | g.38575352T>A | CA352138093 | SCN5A | c.3608A>T (p.His1203Leu) c.3611A>T (p.His1204Leu) c.3449A>T (p.His1150Leu) c.3482A>T (p.His1161Leu) | |
3 | g.38575352T>C | CA352138094 | SCN5A | c.3608A>G (p.His1203Arg) c.3611A>G (p.His1204Arg) c.3449A>G (p.His1150Arg) c.3482A>G (p.His1161Arg) | |
3 | g.38575352T>G | CA352138095 | SCN5A | c.3608A>C (p.His1203Pro) c.3611A>C (p.His1204Pro) c.3449A>C (p.His1150Pro) c.3482A>C (p.His1161Pro) |