Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38613696del | CA2665116241 | SCN5A | c.703+49del (n.703+49del) c.703+281del (n.703+281del) c.574+49del (n.574+49del) | gnomAD v4 |
3 | g.38613697G>A | CA542273931 | SCN5A | c.703+46C>T (n.703+46C>T) c.703+278C>T (n.703+278C>T) c.574+46C>T (n.574+46C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613697G= | CA1358589323 | SCN5A | c.703+46C= (n.703+46C=) c.703+278C= (n.703+278C=) c.574+46C= (n.574+46C=) | |
3 | g.38613697G>T | CA542273932 | SCN5A | c.703+46C>A (n.703+46C>A) c.703+278C>A (n.703+278C>A) c.574+46C>A (n.574+46C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613698del | CA2665116242 | SCN5A | c.703+46del (n.703+46del) c.703+278del (n.703+278del) c.574+46del (n.574+46del) | gnomAD v4 |
3 | g.38613698G>A | CA2581867705 | SCN5A | c.703+45C>T (n.703+45C>T) c.703+277C>T (n.703+277C>T) c.574+45C>T (n.574+45C>T) | |
3 | g.38613698G>C | CA2581867704 | SCN5A | c.703+45C>G (n.703+45C>G) c.703+277C>G (n.703+277C>G) c.574+45C>G (n.574+45C>G) | |
3 | g.38613698G= | CA1358589324 | SCN5A | c.703+45C= (n.703+45C=) c.703+277C= (n.703+277C=) c.574+45C= (n.574+45C=) | |
3 | g.38613698G>T | CA065563 | SCN5A | c.703+45C>A (n.703+45C>A) c.703+277C>A (n.703+277C>A) c.574+45C>A (n.574+45C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613699C>A | CA2665116243 | SCN5A | c.703+44G>T (n.703+44G>T) c.703+276G>T (n.703+276G>T) c.574+44G>T (n.574+44G>T) | gnomAD v4 |
3 | g.38613701C= | CA1358589325 | SCN5A | c.703+42G= (n.703+42G=) c.703+274G= (n.703+274G=) c.574+42G= (n.574+42G=) | |
3 | g.38613701C>T | CA542273933 | SCN5A | c.703+42G>A (n.703+42G>A) c.703+274G>A (n.703+274G>A) c.574+42G>A (n.574+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613702A>G | CA2577553618 | SCN5A | c.703+41T>C (n.703+41T>C) c.703+273T>C (n.703+273T>C) c.574+41T>C (n.574+41T>C) | |
3 | g.38613703G>A | CA2577553619 | SCN5A | c.703+40C>T (n.703+40C>T) c.703+272C>T (n.703+272C>T) c.574+40C>T (n.574+40C>T) | |
3 | g.38613703G>C | CA065559 | SCN5A | c.703+40C>G (n.703+40C>G) c.703+272C>G (n.703+272C>G) c.574+40C>G (n.574+40C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613703G= | CA1358589326 | SCN5A | c.703+40C= (n.703+40C=) c.703+272C= (n.703+272C=) c.574+40C= (n.574+40C=) | |
3 | g.38613703G>T | CA2577553620 | SCN5A | c.703+40C>A (n.703+40C>A) c.703+272C>A (n.703+272C>A) c.574+40C>A (n.574+40C>A) | gnomAD v4 |
3 | g.38613704G>T | CA2665116244 | SCN5A | c.703+39C>A (n.703+39C>A) c.703+271C>A (n.703+271C>A) c.574+39C>A (n.574+39C>A) | gnomAD v4 |
3 | g.38613705C>A | CA542273934 | SCN5A | c.703+38G>T (n.703+38G>T) c.703+270G>T (n.703+270G>T) c.574+38G>T (n.574+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613705C= | CA1358589327 | SCN5A | c.703+38G= (n.703+38G=) c.703+270G= (n.703+270G=) c.574+38G= (n.574+38G=) | |
3 | g.38613706A>G | CA2577553621 | SCN5A | c.703+37T>C (n.703+37T>C) c.703+269T>C (n.703+269T>C) c.574+37T>C (n.574+37T>C) | dbSNP gnomAD v4 |
3 | g.38613707T>A | CA2577553622 | SCN5A | c.703+36A>T (n.703+36A>T) c.703+268A>T (n.703+268A>T) c.574+36A>T (n.574+36A>T) | |
3 | g.38613707T>C | CA2665116245 | SCN5A | c.703+36A>G (n.703+36A>G) c.703+268A>G (n.703+268A>G) c.574+36A>G (n.574+36A>G) | gnomAD v4 |
3 | g.38613708A= | CA1358589328 | SCN5A | c.703+35T= (n.703+35T=) c.703+267T= (n.703+267T=) c.574+35T= (n.574+35T=) | |
3 | g.38613708A>G | CA1358589329 | SCN5A | c.703+35T>C (n.703+35T>C) c.703+267T>C (n.703+267T>C) c.574+35T>C (n.574+35T>C) | dbSNP gnomAD v4 |
3 | g.38613709T>C | CA2577553623 | SCN5A | c.703+34A>G (n.703+34A>G) c.703+266A>G (n.703+266A>G) c.574+34A>G (n.574+34A>G) | gnomAD v4 |
3 | g.38613709T= | CA1358589330 | SCN5A | c.703+34A= (n.703+34A=) c.703+266A= (n.703+266A=) c.574+34A= (n.574+34A=) | |
3 | g.38613710C>A | CA2665116246 | SCN5A | c.703+33G>T (n.703+33G>T) c.703+265G>T (n.703+265G>T) c.574+33G>T (n.574+33G>T) | gnomAD v4 |
3 | g.38613711_38613712dup | CA2319566 | SCN5A | c.703+32_703+33dup (n.703+32_703+33dup) c.703+264_703+265dup (n.703+264_703+265dup) c.574+32_574+33dup (n.574+32_574+33dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613711C= | CA1358589331 | SCN5A | c.703+32G= (n.703+32G=) c.703+264G= (n.703+264G=) c.574+32G= (n.574+32G=) | |
3 | g.38613711C>T | CA065557 | SCN5A | c.703+32G>A (n.703+32G>A) c.703+264G>A (n.703+264G>A) c.574+32G>A (n.574+32G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613712C= | CA1358589332 | SCN5A | c.703+31G= (n.703+31G=) c.703+263G= (n.703+263G=) c.574+31G= (n.574+31G=) | |
3 | g.38613712C>G | CA906901706 | SCN5A | c.703+31G>C (n.703+31G>C) c.703+263G>C (n.703+263G>C) c.574+31G>C (n.574+31G>C) | dbSNP |
3 | g.38613712C>T | CA542273935 | SCN5A | c.703+31G>A (n.703+31G>A) c.703+263G>A (n.703+263G>A) c.574+31G>A (n.574+31G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613714C= | CA1358589333 | SCN5A | c.703+29G= (n.703+29G=) c.703+261G= (n.703+261G=) c.574+29G= (n.574+29G=) | |
3 | g.38613714C>G | CA065553 | SCN5A | c.703+29G>C (n.703+29G>C) c.703+261G>C (n.703+261G>C) c.574+29G>C (n.574+29G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613715T>C | CA2577553624 | SCN5A | c.703+28A>G (n.703+28A>G) c.703+260A>G (n.703+260A>G) c.574+28A>G (n.574+28A>G) | |
3 | g.38613716A>T | CA2665116247 | SCN5A | c.703+27T>A (n.703+27T>A) c.703+259T>A (n.703+259T>A) c.574+27T>A (n.574+27T>A) | gnomAD v4 |
3 | g.38613717G= | CA1358589334 | SCN5A | c.703+26C= (n.703+26C=) c.703+258C= (n.703+258C=) c.574+26C= (n.574+26C=) | |
3 | g.38613717G>T | CA1358589335 | SCN5A | c.703+26C>A (n.703+26C>A) c.703+258C>A (n.703+258C>A) c.574+26C>A (n.574+26C>A) | dbSNP gnomAD v4 |
3 | g.38613718C>A | CA542273936 | SCN5A | c.703+25G>T (n.703+25G>T) c.703+257G>T (n.703+257G>T) c.574+25G>T (n.574+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613718C= | CA1358589336 | SCN5A | c.703+25G= (n.703+25G=) c.703+257G= (n.703+257G=) c.574+25G= (n.574+25G=) | |
3 | g.38613719C>A | CA2665116248 | SCN5A | c.703+24G>T (n.703+24G>T) c.703+256G>T (n.703+256G>T) c.574+24G>T (n.574+24G>T) | gnomAD v4 |
3 | g.38613719C>T | CA2665116249 | SCN5A | c.703+24G>A (n.703+24G>A) c.703+256G>A (n.703+256G>A) c.574+24G>A (n.574+24G>A) | gnomAD v4 |
3 | g.38613720T>C | CA2665116250 | SCN5A | c.703+23A>G (n.703+23A>G) c.703+255A>G (n.703+255A>G) c.574+23A>G (n.574+23A>G) | gnomAD v4 |
3 | g.38613722G>A | CA2665116251 | SCN5A | c.703+21C>T (n.703+21C>T) c.703+253C>T (n.703+253C>T) c.574+21C>T (n.574+21C>T) | gnomAD v4 |
3 | g.38613722G>T | CA2665116252 | SCN5A | c.703+21C>A (n.703+21C>A) c.703+253C>A (n.703+253C>A) c.574+21C>A (n.574+21C>A) | gnomAD v4 |
3 | g.38613723G>C | CA065549 | SCN5A | c.703+20C>G (n.703+20C>G) c.703+252C>G (n.703+252C>G) c.574+20C>G (n.574+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613723G= | CA1358589337 | SCN5A | c.703+20C= (n.703+20C=) c.703+252C= (n.703+252C=) c.574+20C= (n.574+20C=) | |
3 | g.38613723G>T | CA2665116253 | SCN5A | c.703+20C>A (n.703+20C>A) c.703+252C>A (n.703+252C>A) c.574+20C>A (n.574+20C>A) | gnomAD v4 |
3 | g.38613724T>A | CA1358589339 | SCN5A | c.703+19A>T (n.703+19A>T) c.703+251A>T (n.703+251A>T) c.574+19A>T (n.574+19A>T) | dbSNP gnomAD v4 |
3 | g.38613724T>C | CA2577553625 | SCN5A | c.703+19A>G (n.703+19A>G) c.703+251A>G (n.703+251A>G) c.574+19A>G (n.574+19A>G) | gnomAD v4 |
3 | g.38613724T= | CA1358589338 | SCN5A | c.703+19A= (n.703+19A=) c.703+251A= (n.703+251A=) c.574+19A= (n.574+19A=) | |
3 | g.38613725G>A | CA2665116254 | SCN5A | c.703+18C>T (n.703+18C>T) c.703+250C>T (n.703+250C>T) c.574+18C>T (n.574+18C>T) | gnomAD v4 |
3 | g.38613725G>T | CA2665116255 | SCN5A | c.703+18C>A (n.703+18C>A) c.703+250C>A (n.703+250C>A) c.574+18C>A (n.574+18C>A) | gnomAD v4 |
3 | g.38613727T>C | CA542273937 | SCN5A | c.703+16A>G (n.703+16A>G) c.703+248A>G (n.703+248A>G) c.574+16A>G (n.574+16A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613727T= | CA1358589340 | SCN5A | c.703+16A= (n.703+16A=) c.703+248A= (n.703+248A=) c.574+16A= (n.574+16A=) | |
3 | g.38613728T>C | CA1358589341 | SCN5A | c.703+15A>G (n.703+15A>G) c.703+247A>G (n.703+247A>G) c.574+15A>G (n.574+15A>G) | dbSNP gnomAD v4 |
3 | g.38613728T= | CA1358589342 | SCN5A | c.703+15A= (n.703+15A=) c.703+247A= (n.703+247A=) c.574+15A= (n.574+15A=) | |
3 | g.38613729A>G | CA2665116256 | SCN5A | c.703+14T>C (n.703+14T>C) c.703+246T>C (n.703+246T>C) c.574+14T>C (n.574+14T>C) | gnomAD v4 |
3 | g.38613729A>T | CA2665116257 | SCN5A | c.703+14T>A (n.703+14T>A) c.703+246T>A (n.703+246T>A) c.574+14T>A (n.574+14T>A) | gnomAD v4 |
3 | g.38613730A>T | CA2665116258 | SCN5A | c.703+13T>A (n.703+13T>A) c.703+245T>A (n.703+245T>A) c.574+13T>A (n.574+13T>A) | gnomAD v4 |
3 | g.38613731C>A | CA2577553626 | SCN5A | c.703+12G>T (n.703+12G>T) c.703+244G>T (n.703+244G>T) c.574+12G>T (n.574+12G>T) | |
3 | g.38613731C= | CA1358589343 | SCN5A | c.703+12G= (n.703+12G=) c.703+244G= (n.703+244G=) c.574+12G= (n.574+12G=) | |
3 | g.38613731C>T | CA065546 | SCN5A | c.703+12G>A (n.703+12G>A) c.703+244G>A (n.703+244G>A) c.574+12G>A (n.574+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613732C>A | CA2665116259 | SCN5A | c.703+11G>T (n.703+11G>T) c.703+243G>T (n.703+243G>T) c.574+11G>T (n.574+11G>T) | gnomAD v4 |
3 | g.38613732C= | CA1358589344 | SCN5A | c.703+11G= (n.703+11G=) c.703+243G= (n.703+243G=) c.574+11G= (n.574+11G=) | |
3 | g.38613732C>G | CA542273938 | SCN5A | c.703+11G>C (n.703+11G>C) c.703+243G>C (n.703+243G>C) c.574+11G>C (n.574+11G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613732C>T | CA72943135 | SCN5A | c.703+11G>A (n.703+11G>A) c.703+243G>A (n.703+243G>A) c.574+11G>A (n.574+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613733T>A | CA2665116260 | SCN5A | c.703+10A>T (n.703+10A>T) c.703+242A>T (n.703+242A>T) c.574+10A>T (n.574+10A>T) | gnomAD v4 |
3 | g.38613733T>C | CA542273939 | SCN5A | c.703+10A>G (n.703+10A>G) c.703+242A>G (n.703+242A>G) c.574+10A>G (n.574+10A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613733T= | CA1358589345 | SCN5A | c.703+10A= (n.703+10A=) c.703+242A= (n.703+242A=) c.574+10A= (n.574+10A=) | |
3 | g.38613734G>A | CA542273940 | SCN5A | c.703+9C>T (n.703+9C>T) c.703+241C>T (n.703+241C>T) c.574+9C>T (n.574+9C>T) | dbSNP gnomAD v2 |
3 | g.38613734G= | CA1358589346 | SCN5A | c.703+9C= (n.703+9C=) c.703+241C= (n.703+241C=) c.574+9C= (n.574+9C=) | |
3 | g.38613734G>T | CA2665116261 | SCN5A | c.703+9C>A (n.703+9C>A) c.703+241C>A (n.703+241C>A) c.574+9C>A (n.574+9C>A) | gnomAD v4 |
3 | g.38613735A>G | CA2511262251 | SCN5A | c.703+8T>C (n.703+8T>C) c.703+240T>C (n.703+240T>C) c.574+8T>C (n.574+8T>C) | |
3 | g.38613736T>G | CA542273941 | SCN5A | c.703+7A>C (n.703+7A>C) c.703+239A>C (n.703+239A>C) c.574+7A>C (n.574+7A>C) | dbSNP gnomAD v2 |
3 | g.38613736T= | CA1358589347 | SCN5A | c.703+7A= (n.703+7A=) c.703+239A= (n.703+239A=) c.574+7A= (n.574+7A=) | |
3 | g.38613737T>C | CA065566 | SCN5A | c.703+6A>G (n.703+6A>G) c.703+238A>G (n.703+238A>G) c.574+6A>G (n.574+6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613737T= | CA1358589348 | SCN5A | c.703+6A= (n.703+6A=) c.703+238A= (n.703+238A=) c.574+6A= (n.574+6A=) | |
3 | g.38613738T>C | CA2665116262 | SCN5A | c.703+5A>G (n.703+5A>G) c.703+237A>G (n.703+237A>G) c.574+5A>G (n.574+5A>G) | gnomAD v4 |
3 | g.38613740C>A | CA2665116263 | SCN5A | c.703+3G>T (n.703+3G>T) c.703+235G>T (n.703+235G>T) c.574+3G>T (n.574+3G>T) | gnomAD v4 |
3 | g.38613740C= | CA1358589349 | SCN5A | c.703+3G= (n.703+3G=) c.703+235G= (n.703+235G=) c.574+3G= (n.574+3G=) | |
3 | g.38613740C>T | CA542273942 | SCN5A | c.703+3G>A (n.703+3G>A) c.703+235G>A (n.703+235G>A) c.574+3G>A (n.574+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613741A= | CA1358589350 | SCN5A | c.703+2T= (n.703+2T=) c.703+234T= (n.703+234T=) c.574+2T= (n.574+2T=) | |
3 | g.38613741A>C | CA352151430 | SCN5A | c.703+2T>G (n.703+2T>G) c.703+234T>G (n.703+234T>G) c.574+2T>G (n.574+2T>G) | dbSNP |
3 | g.38613741A>G | CA352151432 | SCN5A | c.703+2T>C (n.703+2T>C) c.703+234T>C (n.703+234T>C) c.574+2T>C (n.574+2T>C) | gnomAD v4 |
3 | g.38613741A>T | CA352151434 | SCN5A | c.703+2T>A (n.703+2T>A) c.703+234T>A (n.703+234T>A) c.574+2T>A (n.574+2T>A) | |
3 | g.38613742C>A | CA352151435 | SCN5A | c.703+1G>T (n.703+1G>T) c.703+233G>T (n.703+233G>T) c.574+1G>T (n.574+1G>T) | ClinVar dbSNP gnomAD v4 |
3 | g.38613742C>G | CA352151436 | SCN5A | c.703+1G>C (n.703+1G>C) c.703+233G>C (n.703+233G>C) c.574+1G>C (n.574+1G>C) | ClinVar dbSNP |
3 | g.38613742C>T | CA352151437 | SCN5A | c.703+1G>A (n.703+1G>A) c.703+233G>A (n.703+233G>A) c.574+1G>A (n.574+1G>A) | |
3 | g.38613743C>A | CA72943141 | SCN5A | c.703G>T (p.Gly235Trp) c.703+232G>T (n.703+232G>T) c.574G>T (p.Gly192Trp) | dbSNP gnomAD v4 |
3 | g.38613743C= | CA1358589352 | SCN5A | c.703G= (p.Gly235=) c.703+232G= (n.703+232G=) c.574G= (p.Gly192=) | |
3 | g.38613743C>G | CA352151440 | SCN5A | c.703G>C (p.Gly235Arg) c.703+232G>C (n.703+232G>C) c.574G>C (p.Gly192Arg) | gnomAD v4 |
3 | g.38613743C>T | CA065574 | SCN5A | c.703G>A (p.Gly235Arg) c.703+232G>A (n.703+232G>A) c.574G>A (p.Gly192Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613743_38613744delinsCT | CA1358589351 | SCN5A | c.702_703delinsAG (p.Ser234=) c.703+231_703+232delinsAG (n.703+231_703+232delinsAG) c.573_574delinsAG (p.Ser191=) | |
3 | g.38613744del | CA1139655792 | SCN5A | c.702del (p.Leu236Ter) c.703+231del (n.703+231del) c.573del (p.Leu193Ter) | ClinVar dbSNP |
3 | g.38613744T>A | CA2665116264 | SCN5A | c.702A>T (p.Ser234=) c.703+231A>T (n.703+231A>T) c.573A>T (p.Ser191=) | gnomAD v4 |
3 | g.38613744T>C | CA1046999391 | SCN5A | c.702A>G (p.Ser234=) c.703+231A>G (n.703+231A>G) c.573A>G (p.Ser191=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38613744T>G | CA019750 | SCN5A | c.702A>C (p.Ser234=) c.703+231A>C (n.703+231A>C) c.573A>C (p.Ser191=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613744T= | CA1358589353 | SCN5A | c.702A= (p.Ser234=) c.703+231A= (n.703+231A=) c.573A= (p.Ser191=) | |
3 | g.38613745G>A | CA352151444 | SCN5A | c.701C>T (p.Ser234Leu) c.703+230C>T (n.703+230C>T) c.572C>T (p.Ser191Leu) | dbSNP gnomAD v2 |
3 | g.38613745G>C | CA352151448 | SCN5A | c.701C>G (p.Ser234Ter) c.703+230C>G (n.703+230C>G) c.572C>G (p.Ser191Ter) | |
3 | g.38613745G= | CA1358589354 | SCN5A | c.701C= (p.Ser234=) c.703+230C= (n.703+230C=) c.572C= (p.Ser191=) | |
3 | g.38613745G>T | CA352151446 | SCN5A | c.701C>A (p.Ser234Ter) c.703+230C>A (n.703+230C>A) c.572C>A (p.Ser191Ter) | gnomAD v4 |
3 | g.38613746A>C | CA352151449 | SCN5A | c.700T>G (p.Ser234Ala) c.703+229T>G (n.703+229T>G) c.571T>G (p.Ser191Ala) | |
3 | g.38613746A>G | CA352151450 | SCN5A | c.700T>C (p.Ser234Pro) c.703+229T>C (n.703+229T>C) c.571T>C (p.Ser191Pro) | gnomAD v4 |
3 | g.38613746A>T | CA352151452 | SCN5A | c.700T>A (p.Ser234Thr) c.703+229T>A (n.703+229T>A) c.571T>A (p.Ser191Thr) | |
3 | g.38613747A>C | CA352151454 | SCN5A | c.699T>G (p.Ile233Met) c.703+228T>G (n.703+228T>G) c.570T>G (p.Ile190Met) | |
3 | g.38613748A= | CA1358589355 | SCN5A | c.698T= (p.Ile233=) c.703+227T= (n.703+227T=) c.569T= (p.Ile190=) | |
3 | g.38613748A>C | CA352151456 | SCN5A | c.698T>G (p.Ile233Ser) c.703+227T>G (n.703+227T>G) c.569T>G (p.Ile190Ser) | |
3 | g.38613748A>G | CA72943148 | SCN5A | c.698T>C (p.Ile233Thr) c.703+227T>C (n.703+227T>C) c.569T>C (p.Ile190Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.38613748A>T | CA352151459 | SCN5A | c.698T>A (p.Ile233Asn) c.703+227T>A (n.703+227T>A) c.569T>A (p.Ile190Asn) | |
3 | g.38613749T>A | CA352151461 | SCN5A | c.697A>T (p.Ile233Phe) c.703+226A>T (n.703+226A>T) c.568A>T (p.Ile190Phe) | |
3 | g.38613749T>C | CA352151462 | SCN5A | c.697A>G (p.Ile233Val) c.703+226A>G (n.703+226A>G) c.568A>G (p.Ile190Val) | |
3 | g.38613749T>G | CA352151464 | SCN5A | c.697A>C (p.Ile233Leu) c.703+226A>C (n.703+226A>C) c.568A>C (p.Ile190Leu) | |
3 | g.38613750G>A | CA065538 | SCN5A | c.696C>T (p.Val232=) c.703+225C>T (n.703+225C>T) c.567C>T (p.Val189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613750G= | CA1358589356 | SCN5A | c.696C= (p.Val232=) c.703+225C= (n.703+225C=) c.567C= (p.Val189=) | |
3 | g.38613750G>T | CA2665116265 | SCN5A | c.696C>A (p.Val232=) c.703+225C>A (n.703+225C>A) c.567C>A (p.Val189=) | gnomAD v4 |
3 | g.38613751A>C | CA352151469 | SCN5A | c.695T>G (p.Val232Gly) c.703+224T>G (n.703+224T>G) c.566T>G (p.Val189Gly) | |
3 | g.38613751A>G | CA352151471 | SCN5A | c.695T>C (p.Val232Ala) c.703+224T>C (n.703+224T>C) c.566T>C (p.Val189Ala) | gnomAD v4 |
3 | g.38613751A>T | CA352151468 | SCN5A | c.695T>A (p.Val232Asp) c.703+224T>A (n.703+224T>A) c.566T>A (p.Val189Asp) | |
3 | g.38613752C>A | CA352151476 | SCN5A | c.694G>T (p.Val232Phe) c.703+223G>T (n.703+223G>T) c.565G>T (p.Val189Phe) | |
3 | g.38613752C= | CA1358589357 | SCN5A | c.694G= (p.Val232=) c.703+223G= (n.703+223G=) c.565G= (p.Val189=) | |
3 | g.38613752C>G | CA352151473 | SCN5A | c.694G>C (p.Val232Leu) c.703+223G>C (n.703+223G>C) c.565G>C (p.Val189Leu) | |
3 | g.38613752C>T | CA019745 | SCN5A | c.694G>A (p.Val232Ile) c.703+223G>A (n.703+223G>A) c.565G>A (p.Val189Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613753T>A | CA2665116266 | SCN5A | c.693A>T (p.Ser231=) c.703+222A>T (n.703+222A>T) c.564A>T (p.Ser188=) | gnomAD v4 |
3 | g.38613753T>G | CA2577553627 | SCN5A | c.693A>C (p.Ser231=) c.703+222A>C (n.703+222A>C) c.564A>C (p.Ser188=) | |
3 | g.38613753_38613754del | CA2586971922 | SCN5A | c.692_693del (p.Ser231CysfsTer21) c.703+221_703+222del (n.703+221_703+222del) c.563_564del (p.Ser188CysfsTer21) | |
3 | g.38613754G>A | CA352151478 | SCN5A | c.692C>T (p.Ser231Leu) c.703+221C>T (n.703+221C>T) c.563C>T (p.Ser188Leu) | |
3 | g.38613754G>C | CA352151480 | SCN5A | c.692C>G (p.Ser231Ter) c.703+221C>G (n.703+221C>G) c.563C>G (p.Ser188Ter) | gnomAD v4 |
3 | g.38613754G>T | CA352151481 | SCN5A | c.692C>A (p.Ser231Ter) c.703+221C>A (n.703+221C>A) c.563C>A (p.Ser188Ter) | gnomAD v4 |
3 | g.38613755A>C | CA352151482 | SCN5A | c.691T>G (p.Ser231Ala) c.703+220T>G (n.703+220T>G) c.562T>G (p.Ser188Ala) | |
3 | g.38613755A>G | CA352151483 | SCN5A | c.691T>C (p.Ser231Pro) c.703+220T>C (n.703+220T>C) c.562T>C (p.Ser188Pro) | gnomAD v4 |
3 | g.38613755A>T | CA352151485 | SCN5A | c.691T>A (p.Ser231Thr) c.703+220T>A (n.703+220T>A) c.562T>A (p.Ser188Thr) | |
3 | g.38613756T>C | CA352151486 | SCN5A | c.690A>G (p.Ile230Met) c.703+219A>G (n.703+219A>G) c.561A>G (p.Ile187Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613756T>G | CA2570024354 | SCN5A | c.690A>C (p.Ile230=) c.703+219A>C (n.703+219A>C) c.561A>C (p.Ile187=) | |
3 | g.38613756T= | CA1358589358 | SCN5A | c.690A= (p.Ile230=) c.703+219A= (n.703+219A=) c.561A= (p.Ile187=) | |
3 | g.38613757A= | CA1358589359 | SCN5A | c.689T= (p.Ile230=) c.703+218T= (n.703+218T=) c.560T= (p.Ile187=) | |
3 | g.38613757A>C | CA352151488 | SCN5A | c.689T>G (p.Ile230Arg) c.703+218T>G (n.703+218T>G) c.560T>G (p.Ile187Arg) | |
3 | g.38613757A>G | CA019740 | SCN5A | c.689T>C (p.Ile230Thr) c.703+218T>C (n.703+218T>C) c.560T>C (p.Ile187Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38613757A>T | CA352151490 | SCN5A | c.689T>A (p.Ile230Lys) c.703+218T>A (n.703+218T>A) c.560T>A (p.Ile187Lys) | |
3 | g.38613758T>A | CA352151495 | SCN5A | c.688A>T (p.Ile230Leu) c.703+217A>T (n.703+217A>T) c.559A>T (p.Ile187Leu) | |
3 | g.38613758T>C | CA019734 | SCN5A | c.688A>G (p.Ile230Val) c.703+217A>G (n.703+217A>G) c.559A>G (p.Ile187Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613758T>G | CA352151493 | SCN5A | c.688A>C (p.Ile230Leu) c.703+217A>C (n.703+217A>C) c.559A>C (p.Ile187Leu) | |
3 | g.38613758T= | CA1358589360 | SCN5A | c.688A= (p.Ile230=) c.703+217A= (n.703+217A=) c.559A= (p.Ile187=) | |
3 | g.38613759A= | CA1358589361 | SCN5A | c.687T= (p.Thr229=) c.703+216T= (n.703+216T=) c.558T= (p.Thr186=) | |
3 | g.38613759A>G | CA065526 | SCN5A | c.687T>C (p.Thr229=) c.703+216T>C (n.703+216T>C) c.558T>C (p.Thr186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613759A>T | CA2540259858 | SCN5A | c.687T>A (p.Thr229=) c.703+216T>A (n.703+216T>A) c.558T>A (p.Thr186=) | |
3 | g.38613760G>A | CA352151498 | SCN5A | c.686C>T (p.Thr229Ile) c.703+215C>T (n.703+215C>T) c.557C>T (p.Thr186Ile) | |
3 | g.38613760G>C | CA352151499 | SCN5A | c.686C>G (p.Thr229Ser) c.703+215C>G (n.703+215C>G) c.557C>G (p.Thr186Ser) | ClinVar dbSNP |
3 | g.38613760G= | CA1358589362 | SCN5A | c.686C= (p.Thr229=) c.703+215C= (n.703+215C=) c.557C= (p.Thr186=) | |
3 | g.38613760G>T | CA352151501 | SCN5A | c.686C>A (p.Thr229Asn) c.703+215C>A (n.703+215C>A) c.557C>A (p.Thr186Asn) | gnomAD v4 |
3 | g.38613761T>A | CA352151503 | SCN5A | c.685A>T (p.Thr229Ser) c.703+214A>T (n.703+214A>T) c.556A>T (p.Thr186Ser) | gnomAD v4 |
3 | g.38613761T>C | CA352151505 | SCN5A | c.685A>G (p.Thr229Ala) c.703+214A>G (n.703+214A>G) c.556A>G (p.Thr186Ala) | |
3 | g.38613761T>G | CA352151506 | SCN5A | c.685A>C (p.Thr229Pro) c.703+214A>C (n.703+214A>C) c.556A>C (p.Thr186Pro) | |
3 | g.38613762T>A | CA352151508 | SCN5A | c.684A>T (p.Lys228Asn) c.703+213A>T (n.703+213A>T) c.555A>T (p.Lys185Asn) | |
3 | g.38613762T>G | CA352151509 | SCN5A | c.684A>C (p.Lys228Asn) c.703+213A>C (n.703+213A>C) c.555A>C (p.Lys185Asn) | COSMIC COSMIC |
3 | g.38613763T>A | CA352151511 | SCN5A | c.683A>T (p.Lys228Ile) c.703+212A>T (n.703+212A>T) c.554A>T (p.Lys185Ile) | |
3 | g.38613763T>C | CA352151513 | SCN5A | c.683A>G (p.Lys228Arg) c.703+212A>G (n.703+212A>G) c.554A>G (p.Lys185Arg) | |
3 | g.38613763T>G | CA352151514 | SCN5A | c.683A>C (p.Lys228Thr) c.703+212A>C (n.703+212A>C) c.554A>C (p.Lys185Thr) | |
3 | g.38613764T>A | CA352151517 | SCN5A | c.682A>T (p.Lys228Ter) c.703+211A>T (n.703+211A>T) c.553A>T (p.Lys185Ter) | |
3 | g.38613764T>C | CA352151519 | SCN5A | c.682A>G (p.Lys228Glu) c.703+211A>G (n.703+211A>G) c.553A>G (p.Lys185Glu) | |
3 | g.38613764T>G | CA352151515 | SCN5A | c.682A>C (p.Lys228Gln) c.703+211A>C (n.703+211A>C) c.553A>C (p.Lys185Gln) | |
3 | g.38613765del | CA645519441 | SCN5A | c.681del (p.Thr229LeufsTer8) c.703+210del (n.703+210del) c.552del (p.Thr186LeufsTer8) | COSMIC COSMIC |
3 | g.38613765C= | CA1358589363 | SCN5A | c.681G= (p.Leu227=) c.703+210G= (n.703+210G=) c.552G= (p.Leu184=) | |
3 | g.38613765C>T | CA065523 | SCN5A | c.681G>A (p.Leu227=) c.703+210G>A (n.703+210G>A) c.552G>A (p.Leu184=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613766A= | CA1358589364 | SCN5A | c.680T= (p.Leu227=) c.703+209T= (n.703+209T=) c.551T= (p.Leu184=) | |
3 | g.38613766A>C | CA352151522 | SCN5A | c.680T>G (p.Leu227Arg) c.703+209T>G (n.703+209T>G) c.551T>G (p.Leu184Arg) | |
3 | g.38613766A>G | CA019728 | SCN5A | c.680T>C (p.Leu227Pro) c.703+209T>C (n.703+209T>C) c.551T>C (p.Leu184Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613766A>T | CA352151524 | SCN5A | c.680T>A (p.Leu227Gln) c.703+209T>A (n.703+209T>A) c.551T>A (p.Leu184Gln) | |
3 | g.38613767G>C | CA352151525 | SCN5A | c.679C>G (p.Leu227Val) c.703+208C>G (n.703+208C>G) c.550C>G (p.Leu184Val) | |
3 | g.38613767G>T | CA352151526 | SCN5A | c.679C>A (p.Leu227Met) c.703+208C>A (n.703+208C>A) c.550C>A (p.Leu184Met) | gnomAD v4 |
3 | g.38613768G>A | CA2665116267 | SCN5A | c.678C>T (p.Ala226=) c.703+207C>T (n.703+207C>T) c.549C>T (p.Ala183=) | ClinVar gnomAD v4 |
3 | g.38613768G>C | CA2550955374 | SCN5A | c.678C>G (p.Ala226=) c.703+207C>G (n.703+207C>G) c.549C>G (p.Ala183=) | |
3 | g.38613768G>T | CA2665116268 | SCN5A | c.678C>A (p.Ala226=) c.703+207C>A (n.703+207C>A) c.549C>A (p.Ala183=) | gnomAD v4 |
3 | g.38613769G>A | CA019724 | SCN5A | c.677C>T (p.Ala226Val) c.703+206C>T (n.703+206C>T) c.548C>T (p.Ala183Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613769G>C | CA352151529 | SCN5A | c.677C>G (p.Ala226Gly) c.703+206C>G (n.703+206C>G) c.548C>G (p.Ala183Gly) | |
3 | g.38613769G= | CA1358589365 | SCN5A | c.677C= (p.Ala226=) c.703+206C= (n.703+206C=) c.548C= (p.Ala183=) | |
3 | g.38613769G>T | CA352151530 | SCN5A | c.677C>A (p.Ala226Asp) c.703+206C>A (n.703+206C>A) c.548C>A (p.Ala183Asp) | ClinVar dbSNP |
3 | g.38613770C>A | CA352151531 | SCN5A | c.676G>T (p.Ala226Ser) c.703+205G>T (n.703+205G>T) c.547G>T (p.Ala183Ser) | gnomAD v4 |
3 | g.38613770C= | CA1358589366 | SCN5A | c.676G= (p.Ala226=) c.703+205G= (n.703+205G=) c.547G= (p.Ala183=) | |
3 | g.38613770C>G | CA352151532 | SCN5A | c.676G>C (p.Ala226Pro) c.703+205G>C (n.703+205G>C) c.547G>C (p.Ala183Pro) | |
3 | g.38613770C>T | CA352151534 | SCN5A | c.676G>A (p.Ala226Thr) c.703+205G>A (n.703+205G>A) c.547G>A (p.Ala183Thr) | dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.38613771C>A | CA2577553628 | SCN5A | c.675G>T (p.Arg225=) c.703+204G>T (n.703+204G>T) c.546G>T (p.Arg182=) | |
3 | g.38613771C>T | CA2665116269 | SCN5A | c.675G>A (p.Arg225=) c.703+204G>A (n.703+204G>A) c.546G>A (p.Arg182=) | gnomAD v4 |
3 | g.38613772C>A | CA352151536 | SCN5A | c.674G>T (p.Arg225Leu) c.703+203G>T (n.703+203G>T) c.545G>T (p.Arg182Leu) | COSMIC COSMIC |
3 | g.38613772C= | CA1358589367 | SCN5A | c.674G= (p.Arg225=) c.703+203G= (n.703+203G=) c.545G= (p.Arg182=) | |
3 | g.38613772C>G | CA352151537 | SCN5A | c.674G>C (p.Arg225Pro) c.703+203G>C (n.703+203G>C) c.545G>C (p.Arg182Pro) | ClinVar |
3 | g.38613772C>T | CA019719 | SCN5A | c.674G>A (p.Arg225Gln) c.703+203G>A (n.703+203G>A) c.545G>A (p.Arg182Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.38613773G>A | CA019714 | SCN5A | c.673C>T (p.Arg225Trp) c.703+202C>T (n.703+202C>T) c.544C>T (p.Arg182Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
3 | g.38613773G>C | CA352151540 | SCN5A | c.673C>G (p.Arg225Gly) c.703+202C>G (n.703+202C>G) c.544C>G (p.Arg182Gly) | |
3 | g.38613773G= | CA1358589368 | SCN5A | c.673C= (p.Arg225=) c.703+202C= (n.703+202C=) c.544C= (p.Arg182=) | |
3 | g.38613773G>T | CA2577553629 | SCN5A | c.673C>A (p.Arg225=) c.703+202C>A (n.703+202C>A) c.544C>A (p.Arg182=) | |
3 | g.38613774G>C | CA2536395364 | SCN5A | c.672C>G (p.Leu224=) c.703+201C>G (n.703+201C>G) c.543C>G (p.Leu181=) | |
3 | g.38613775A>C | CA352151542 | SCN5A | c.671T>G (p.Leu224Arg) c.703+200T>G (n.703+200T>G) c.542T>G (p.Leu181Arg) | |
3 | g.38613775A>G | CA352151544 | SCN5A | c.671T>C (p.Leu224Pro) c.703+200T>C (n.703+200T>C) c.542T>C (p.Leu181Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.38613775A>T | CA352151545 | SCN5A | c.671T>A (p.Leu224His) c.703+200T>A (n.703+200T>A) c.542T>A (p.Leu181His) | |
3 | g.38613776G>A | CA352151550 | SCN5A | c.670C>T (p.Leu224Phe) c.703+199C>T (n.703+199C>T) c.541C>T (p.Leu181Phe) | dbSNP gnomAD v4 |
3 | g.38613776G>C | CA352151548 | SCN5A | c.670C>G (p.Leu224Val) c.703+199C>G (n.703+199C>G) c.541C>G (p.Leu181Val) | |
3 | g.38613776G= | CA1358589369 | SCN5A | c.670C= (p.Leu224=) c.703+199C= (n.703+199C=) c.541C= (p.Leu181=) | |
3 | g.38613776G>T | CA352151546 | SCN5A | c.670C>A (p.Leu224Ile) c.703+199C>A (n.703+199C>A) c.541C>A (p.Leu181Ile) | |
3 | g.38613777G>A | CA2580069759 | SCN5A | c.669C>T (p.Val223=) c.703+198C>T (n.703+198C>T) c.540C>T (p.Val180=) | ClinVar |
3 | g.38613777G>T | CA2545675836 | SCN5A | c.669C>A (p.Val223=) c.703+198C>A (n.703+198C>A) c.540C>A (p.Val180=) | gnomAD v4 |
3 | g.38613778A>C | CA352151552 | SCN5A | c.668T>G (p.Val223Gly) c.703+197T>G (n.703+197T>G) c.539T>G (p.Val180Gly) | |
3 | g.38613778A>G | CA352151553 | SCN5A | c.668T>C (p.Val223Ala) c.703+197T>C (n.703+197T>C) c.539T>C (p.Val180Ala) | |
3 | g.38613778A>T | CA352151555 | SCN5A | c.668T>A (p.Val223Asp) c.703+197T>A (n.703+197T>A) c.539T>A (p.Val180Asp) | |
3 | g.38613779C>A | CA352151557 | SCN5A | c.667G>T (p.Val223Phe) c.703+196G>T (n.703+196G>T) c.538G>T (p.Val180Phe) | gnomAD v4 |
3 | g.38613779C= | CA1358589370 | SCN5A | c.667G= (p.Val223=) c.703+196G= (n.703+196G=) c.538G= (p.Val180=) | |
3 | g.38613779C>G | CA019709 | SCN5A | c.667G>C (p.Val223Leu) c.703+196G>C (n.703+196G>C) c.538G>C (p.Val180Leu) | ClinVar dbSNP |
3 | g.38613779C>T | CA352151559 | SCN5A | c.667G>A (p.Val223Ile) c.703+196G>A (n.703+196G>A) c.538G>A (p.Val180Ile) | |
3 | g.38613780T>C | CA065487 | SCN5A | c.666A>G (p.Arg222=) c.703+195A>G (n.703+195A>G) c.537A>G (p.Arg179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38613780T= | CA1358589371 | SCN5A | c.666A= (p.Arg222=) c.703+195A= (n.703+195A=) c.537A= (p.Arg179=) | |
3 | g.38613781C>A | CA352151562 | SCN5A | c.665G>T (p.Arg222Leu) c.703+194G>T (n.703+194G>T) c.536G>T (p.Arg179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38613781C= | CA1358589372 | SCN5A | c.665G= (p.Arg222=) c.703+194G= (n.703+194G=) c.536G= (p.Arg179=) | |
3 | g.38613781C>G | CA352151564 | SCN5A | c.665G>C (p.Arg222Pro) c.703+194G>C (n.703+194G>C) c.536G>C (p.Arg179Pro) | |
3 | g.38613781C>T | CA019704 | SCN5A | c.665G>A (p.Arg222Gln) c.703+194G>A (n.703+194G>A) c.536G>A (p.Arg179Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38613781_38613782delinsTA | CA2586971923 | SCN5A | c.664_665delinsTA (p.Arg222Ter) c.703+193_703+194delinsTA (n.703+193_703+194delinsTA) c.535_536delinsTA (p.Arg179Ter) | |
3 | g.38613782G>A | CA019700 | SCN5A | c.664C>T (p.Arg222Ter) c.703+193C>T (n.703+193C>T) c.535C>T (p.Arg179Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
3 | g.38613782G>C | CA019695 | SCN5A | c.664C>G (p.Arg222Gly) c.703+193C>G (n.703+193C>G) c.535C>G (p.Arg179Gly) | ClinVar dbSNP |
3 | g.38613782G= | CA1358589373 | SCN5A | c.664C= (p.Arg222=) c.703+193C= (n.703+193C=) c.535C= (p.Arg179=) | |
3 | g.38613782G>T | CA2570203289 | SCN5A | c.664C>A (p.Arg222=) c.703+193C>A (n.703+193C>A) c.535C>A (p.Arg179=) | |
3 | g.38613783G>A | CA645519442 | SCN5A | c.663C>T (p.Phe221=) c.703+192C>T (n.703+192C>T) c.534C>T (p.Phe178=) | gnomAD v4 COSMIC COSMIC |
3 | g.38613783G>C | CA352151569 | SCN5A | c.663C>G (p.Phe221Leu) c.703+192C>G (n.703+192C>G) c.534C>G (p.Phe178Leu) | |
3 | g.38613783G>T | CA352151568 | SCN5A | c.663C>A (p.Phe221Leu) c.703+192C>A (n.703+192C>A) c.534C>A (p.Phe178Leu) | |
3 | g.38613784A>C | CA352151571 | SCN5A | c.662T>G (p.Phe221Cys) c.703+191T>G (n.703+191T>G) c.533T>G (p.Phe178Cys) | gnomAD v4 |
3 | g.38613784A>G | CA352151573 | SCN5A | c.662T>C (p.Phe221Ser) c.703+191T>C (n.703+191T>C) c.533T>C (p.Phe178Ser) | |
3 | g.38613784A>T | CA352151575 | SCN5A | c.662T>A (p.Phe221Tyr) c.703+191T>A (n.703+191T>A) c.533T>A (p.Phe178Tyr) | |
3 | g.38613785A>C | CA352151577 | SCN5A | c.661T>G (p.Phe221Val) c.703+190T>G (n.703+190T>G) c.532T>G (p.Phe178Val) | ClinVar |
3 | g.38613785A>G | CA352151578 | SCN5A | c.661T>C (p.Phe221Leu) c.703+190T>C (n.703+190T>C) c.532T>C (p.Phe178Leu) | |
3 | g.38613785A>T | CA352151580 | SCN5A | c.661T>A (p.Phe221Ile) c.703+190T>A (n.703+190T>A) c.532T>A (p.Phe178Ile) | |
3 | g.38613786G>C | CA2527546116 | SCN5A | c.660C>G (p.Thr220=) c.703+189C>G (n.703+189C>G) c.531C>G (p.Thr177=) | |
3 | g.38613787G>A | CA019690 | SCN5A | c.659C>T (p.Thr220Ile) c.703+188C>T (n.703+188C>T) c.530C>T (p.Thr177Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613787G>C | CA352151583 | SCN5A | c.659C>G (p.Thr220Ser) c.703+188C>G (n.703+188C>G) c.530C>G (p.Thr177Ser) | gnomAD v4 COSMIC |
3 | g.38613787G= | CA1358589374 | SCN5A | c.659C= (p.Thr220=) c.703+188C= (n.703+188C=) c.530C= (p.Thr177=) | |
3 | g.38613787G>T | CA352151584 | SCN5A | c.659C>A (p.Thr220Asn) c.703+188C>A (n.703+188C>A) c.530C>A (p.Thr177Asn) | |
3 | g.38613788T>A | CA352151585 | SCN5A | c.658A>T (p.Thr220Ser) c.703+187A>T (n.703+187A>T) c.529A>T (p.Thr177Ser) | |
3 | g.38613788T>C | CA352151586 | SCN5A | c.658A>G (p.Thr220Ala) c.703+187A>G (n.703+187A>G) c.529A>G (p.Thr177Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38613788T>G | CA352151588 | SCN5A | c.658A>C (p.Thr220Pro) c.703+187A>C (n.703+187A>C) c.529A>C (p.Thr177Pro) | |
3 | g.38613789G>A | CA433138702 | SCN5A | c.657C>T (p.Arg219=) c.703+186C>T (n.703+186C>T) c.528C>T (p.Arg176=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38613789G= | CA1358589375 | SCN5A | c.657C= (p.Arg219=) c.703+186C= (n.703+186C=) c.528C= (p.Arg176=) | |
3 | g.38613789G>T | CA2542471745 | SCN5A | c.657C>A (p.Arg219=) c.703+186C>A (n.703+186C>A) c.528C>A (p.Arg176=) | |
3 | g.38613789_38613790insTGAAT | CA2586971924 | SCN5A | c.656_657insATTCA (p.Thr220PhefsTer10) c.703+185_703+186insATTCA (n.703+185_703+186insATTCA) c.527_528insATTCA (p.Thr177PhefsTer10) | |
3 | g.38613790C>A | CA352151591 | SCN5A | c.656G>T (p.Arg219Leu) c.703+185G>T (n.703+185G>T) c.527G>T (p.Arg176Leu) | |
3 | g.38613790C= | CA1358589376 | SCN5A | c.656G= (p.Arg219=) c.703+185G= (n.703+185G=) c.527G= (p.Arg176=) | |
3 | g.38613790C>G | CA352151590 | SCN5A | c.656G>C (p.Arg219Pro) c.703+185G>C (n.703+185G>C) c.527G>C (p.Arg176Pro) | ClinVar dbSNP |
3 | g.38613790C>T | CA10582196 | SCN5A | c.656G>A (p.Arg219His) c.703+185G>A (n.703+185G>A) c.527G>A (p.Arg176His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613790_38613791insTGAAT | CA542273943 | SCN5A | c.655_656insATTCA (p.Arg219HisfsTer11) c.703+184_703+185insATTCA (n.703+184_703+185insATTCA) c.526_527insATTCA (p.Arg176HisfsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613791G>A | CA065472 | SCN5A | c.655C>T (p.Arg219Cys) c.703+184C>T (n.703+184C>T) c.526C>T (p.Arg176Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
3 | g.38613791G>C | CA352151593 | SCN5A | c.655C>G (p.Arg219Gly) c.703+184C>G (n.703+184C>G) c.526C>G (p.Arg176Gly) | |
3 | g.38613791G= | CA1358589377 | SCN5A | c.655C= (p.Arg219=) c.703+184C= (n.703+184C=) c.526C= (p.Arg176=) | |
3 | g.38613791G>T | CA352151594 | SCN5A | c.655C>A (p.Arg219Ser) c.703+184C>A (n.703+184C>A) c.526C>A (p.Arg176Ser) | |
3 | g.38613792T>A | CA352151595 | SCN5A | c.654A>T (p.Leu218Phe) c.703+183A>T (n.703+183A>T) c.525A>T (p.Leu175Phe) | |
3 | g.38613792T>C | CA2524856918 | SCN5A | c.654A>G (p.Leu218=) c.703+183A>G (n.703+183A>G) c.525A>G (p.Leu175=) | |
3 | g.38613792T>G | CA352151596 | SCN5A | c.654A>C (p.Leu218Phe) c.703+183A>C (n.703+183A>C) c.525A>C (p.Leu175Phe) | |
3 | g.38613792dup | CA10590122 | SCN5A | c.654dup (p.Arg219ThrfsTer?) c.703+183dup (n.703+183dup) c.525dup (p.Arg176ThrfsTer?) | |
3 | g.38613793A>C | CA352151599 | SCN5A | c.653T>G (p.Leu218Ter) c.703+182T>G (n.703+182T>G) c.524T>G (p.Leu175Ter) | |
3 | g.38613793A>G | CA352151600 | SCN5A | c.653T>C (p.Leu218Ser) c.703+182T>C (n.703+182T>C) c.524T>C (p.Leu175Ser) | |
3 | g.38613793A>T | CA352151602 | SCN5A | c.653T>A (p.Leu218Ter) c.703+182T>A (n.703+182T>A) c.524T>A (p.Leu175Ter) | |
3 | g.38613794A>C | CA352151604 | SCN5A | c.652T>G (p.Leu218Val) c.703+181T>G (n.703+181T>G) c.523T>G (p.Leu175Val) | |
3 | g.38613794A>T | CA352151605 | SCN5A | c.652T>A (p.Leu218Ile) c.703+181T>A (n.703+181T>A) c.523T>A (p.Leu175Ile) | |
3 | g.38613795G>A | CA2572993173 | SCN5A | c.651C>T (p.Ala217=) c.703+180C>T (n.703+180C>T) c.522C>T (p.Ala174=) | |
3 | g.38613795G>C | CA645519443 | SCN5A | c.651C>G (p.Ala217=) c.703+180C>G (n.703+180C>G) c.522C>G (p.Ala174=) | COSMIC COSMIC |
3 | g.38613795G>T | CA2665116270 | SCN5A | c.651C>A (p.Ala217=) c.703+180C>A (n.703+180C>A) c.522C>A (p.Ala174=) | gnomAD v4 |
3 | g.38613796G>A | CA352151607 | SCN5A | c.650C>T (p.Ala217Val) c.703+179C>T (n.703+179C>T) c.521C>T (p.Ala174Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38613796G>C | CA352151609 | SCN5A | c.650C>G (p.Ala217Gly) c.703+179C>G (n.703+179C>G) c.521C>G (p.Ala174Gly) | |
3 | g.38613796G= | CA1358589378 | SCN5A | c.650C= (p.Ala217=) c.703+179C= (n.703+179C=) c.521C= (p.Ala174=) | |
3 | g.38613796G>T | CA352151610 | SCN5A | c.650C>A (p.Ala217Asp) c.703+179C>A (n.703+179C>A) c.521C>A (p.Ala174Asp) | gnomAD v4 COSMIC COSMIC |