17 | g.63972473_63972570del | CA627150415 | SCN4A | c.273+1_274-1del
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972474A>C | CA2576356264 | SCN4A | c.274-4T>G (n.274-4T>G)
| gnomAD v4 |
17 | g.63972475G>A | CA2270175858 | SCN4A | c.274-5C>T (n.274-5C>T)
| dbSNP |
17 | g.63972475G= | CA2270175857 | SCN4A | c.274-5C= (n.274-5C=)
| |
17 | g.63972475G>T | CA2639312491 | SCN4A | c.274-5C>A (n.274-5C>A)
| gnomAD v4 |
17 | g.63972476G>A | CA2270175860 | SCN4A | c.274-6C>T (n.274-6C>T)
| dbSNP |
17 | g.63972476G= | CA2270175859 | SCN4A | c.274-6C= (n.274-6C=)
| |
17 | g.63972477T>G | CA2270175862 | SCN4A | c.274-7A>C (n.274-7A>C)
| dbSNP |
17 | g.63972477T= | CA2270175861 | SCN4A | c.274-7A= (n.274-7A=)
| |
17 | g.63972478G>A | CA2576356265 | SCN4A | c.274-8C>T (n.274-8C>T)
| |
17 | g.63972480G>A | CA645591547 | SCN4A | c.274-10C>T (n.274-10C>T)
| COSMIC |
17 | g.63972485_63972486del | CA2639312496 | SCN4A | c.274-11_274-10del (n.274-11_274-10del)
| gnomAD v4 |
17 | g.63972482G>A | CA774008759 | SCN4A | c.274-12C>T (n.274-12C>T)
| dbSNP |
17 | g.63972482G= | CA2270175863 | SCN4A | c.274-12C= (n.274-12C=)
| |
17 | g.63972484G>A | CA627150416 | SCN4A | c.274-14C>T (n.274-14C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972484G= | CA2270175864 | SCN4A | c.274-14C= (n.274-14C=)
| |
17 | g.63972486G>A | CA774008762 | SCN4A | c.274-16C>T (n.274-16C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63972486G= | CA2270175865 | SCN4A | c.274-16C= (n.274-16C=)
| |
17 | g.63972487G>A | CA8710213 | SCN4A | c.274-17C>T (n.274-17C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972487G= | CA2270175866 | SCN4A | c.274-17C= (n.274-17C=)
| |
17 | g.63972487G>T | CA2545461930 | SCN4A | c.274-17C>A (n.274-17C>A)
| |
17 | g.63972488_63972490delinsCTG | CA2270175867 | SCN4A | c.274-20_274-18delinsCAG (n.274-20_274-18delinsCAG)
| |
17 | g.63972491_63972492del | CA627150419 | SCN4A | c.274-20_274-19del (n.274-20_274-19del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972490G>A | CA8710214 | SCN4A | c.274-20C>T (n.274-20C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972490G>C | CA627150420 | SCN4A | c.274-20C>G (n.274-20C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972490G= | CA2270175868 | SCN4A | c.274-20C= (n.274-20C=)
| |
17 | g.63972491T>G | CA2270175870 | SCN4A | c.274-21A>C (n.274-21A>C)
| dbSNP |
17 | g.63972491T= | CA2270175869 | SCN4A | c.274-21A= (n.274-21A=)
| |
17 | g.63972494G>A | CA8710215 | SCN4A | c.274-24C>T (n.274-24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972494G= | CA2270175871 | SCN4A | c.274-24C= (n.274-24C=)
| |
17 | g.63972498C>A | CA2639312503 | SCN4A | c.274-28G>T (n.274-28G>T)
| gnomAD v4 |
17 | g.63972499A= | CA2270175872 | SCN4A | c.274-29T= (n.274-29T=)
| |
17 | g.63972499A>C | CA2576356266 | SCN4A | c.274-29T>G (n.274-29T>G)
| |
17 | g.63972499A>G | CA2270175873 | SCN4A | c.274-29T>C (n.274-29T>C)
| dbSNP |
17 | g.63972500G>C | CA8710216 | SCN4A | c.274-30C>G (n.274-30C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972500G= | CA2270175874 | SCN4A | c.274-30C= (n.274-30C=)
| |
17 | g.63972501G>A | CA2576356267 | SCN4A | c.274-31C>T (n.274-31C>T)
| gnomAD v4 |
17 | g.63972501_63972505delinsGGACA | CA2270175875 | SCN4A | c.274-35_274-31delinsTGTCC (n.274-35_274-31delinsTGTCC)
| |
17 | g.63972502G>A | CA2639312517 | SCN4A | c.274-32C>T (n.274-32C>T)
| gnomAD v4 |
17 | g.63972511_63972514dup | CA2270175876 | SCN4A | c.274-35_274-32dup (n.274-35_274-32dup)
| dbSNP gnomAD v4 |
17 | g.63972507_63972514dup | CA2270175877 | SCN4A | c.274-39_274-32dup (n.274-39_274-32dup)
| dbSNP gnomAD v4 |
17 | g.63972511_63972514del | CA8710217 | SCN4A | c.274-35_274-32del (n.274-35_274-32del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972503A= | CA2270175878 | SCN4A | c.274-33T= (n.274-33T=)
| |
17 | g.63972503_63972504insGAGACAGACAGG | CA8710219 | SCN4A | c.274-34_274-33insCCTGTCTGTCTC (n.274-34_274-33insCCTGTCTGTCTC)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972504C>G | CA2639312541 | SCN4A | c.274-34G>C (n.274-34G>C)
| gnomAD v4 |
17 | g.63972512_63972523dup | CA8710218 | SCN4A | c.274-45_274-34dup (n.274-45_274-34dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972505A= | CA2270175879 | SCN4A | c.274-35T= (n.274-35T=)
| |
17 | g.63972505A>G | CA2270175880 | SCN4A | c.274-35T>C (n.274-35T>C)
| dbSNP |
17 | g.63972506G>A | CA8710220 | SCN4A | c.274-36C>T (n.274-36C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972506G>C | CA2270175882 | SCN4A | c.274-36C>G (n.274-36C>G)
| dbSNP |
17 | g.63972506G= | CA2270175881 | SCN4A | c.274-36C= (n.274-36C=)
| |
17 | g.63972507A>G | CA2576356268 | SCN4A | c.274-37T>C (n.274-37T>C)
| gnomAD v4 |
17 | g.63972508C= | CA2270175883 | SCN4A | c.274-38G= (n.274-38G=)
| |
17 | g.63972508C>G | CA8710221 | SCN4A | c.274-38G>C (n.274-38G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972508C>T | CA8710222 | SCN4A | c.274-38G>A (n.274-38G>A)
| dbSNP ExAC gnomAD v2 |
17 | g.63972510G>C | CA2810128108 | SCN4A | c.274-40C>G (n.274-40C>G)
| |
17 | g.63972510G= | CA2270175884 | SCN4A | c.274-40C= (n.274-40C=)
| |
17 | g.63972510G>T | CA627150423 | SCN4A | c.274-40C>A (n.274-40C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972511A= | CA2270175885 | SCN4A | c.274-41T= (n.274-41T=)
| |
17 | g.63972511A>G | CA627150424 | SCN4A | c.274-41T>C (n.274-41T>C)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972512C>G | CA2519853072 | SCN4A | c.274-42G>C (n.274-42G>C)
| |
17 | g.63972513_63972532delinsAGGCAGACAGATGGATGGAT | CA2270175886 | SCN4A | c.273+37_274-43delinsATCCATCCATCTGTCTGCCT (n.273+37_274-43delinsATCCATCCATCTGTCTGCCT)
| |
17 | g.63972524_63972542dup | CA2639312574 | SCN4A | c.273+37_274-44dup (n.273+37_274-44dup)
| gnomAD v4 |
17 | g.63972524_63972542del | CA8710223 | SCN4A | c.273+37_274-44del (n.273+37_274-44del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972515G= | CA2270175887 | SCN4A | c.274-45C= (n.274-45C=)
| |
17 | g.63972515G>T | CA8710224 | SCN4A | c.274-45C>A (n.274-45C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972516C>A | CA2576356269 | SCN4A | c.274-46G>T (n.274-46G>T)
| |
17 | g.63972520_63972523dup | CA2639312580 | SCN4A | c.274-49_274-46dup (n.274-49_274-46dup)
| gnomAD v4 |
17 | g.63972517A>T | CA2576356270 | SCN4A | c.274-47T>A (n.274-47T>A)
| |
17 | g.63972519A>G | CA2576356271 | SCN4A | c.274-49T>C (n.274-49T>C)
| |
17 | g.63972520C>T | CA2810128109 | SCN4A | c.274-50G>A (n.274-50G>A)
| |
17 | g.63972520_63972524delinsCAGAT | CA2270175888 | SCN4A | c.273+45_274-50delinsATCTG (n.273+45_274-50delinsATCTG)
| |
17 | g.63972521_63972524del | CA8710225 | SCN4A | c.273+45_273+48del (n.273+45_273+48del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972531_63972534dup | CA2639312589 | SCN4A | c.273+44_273+47dup (n.273+44_273+47dup)
| gnomAD v4 |
17 | g.63972523A= | CA2270175889 | SCN4A | c.273+46T= (n.273+46T=)
| |
17 | g.63972523A>G | CA985438398 | SCN4A | c.273+46T>C (n.273+46T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63972524T>C | CA2270175891 | SCN4A | c.273+45A>G (n.273+45A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63972524T= | CA2270175890 | SCN4A | c.273+45A= (n.273+45A=)
| |
17 | g.63972525G>A | CA2639312595 | SCN4A | c.273+44C>T (n.273+44C>T)
| gnomAD v4 |
17 | g.63972525_63972543dup | CA2639312591 | SCN4A | c.273+26_273+44dup (n.273+26_273+44dup)
| gnomAD v4 |
17 | g.63972526G= | CA2270175892 | SCN4A | c.273+43C= (n.273+43C=)
| |
17 | g.63972526G>T | CA8710226 | SCN4A | c.273+43C>A (n.273+43C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972527A= | CA2270175893 | SCN4A | c.273+42T= (n.273+42T=)
| |
17 | g.63972527A>C | CA2639312604 | SCN4A | c.273+42T>G (n.273+42T>G)
| gnomAD v4 |
17 | g.63972527A>G | CA8710227 | SCN4A | c.273+42T>C (n.273+42T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972527A>T | CA627150425 | SCN4A | c.273+42T>A (n.273+42T>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972528T>A | CA8710228 | SCN4A | c.273+41A>T (n.273+41A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972528T= | CA2270175894 | SCN4A | c.273+41A= (n.273+41A=)
| |
17 | g.63972529G>A | CA2639312612 | SCN4A | c.273+40C>T (n.273+40C>T)
| gnomAD v4 |
17 | g.63972530G= | CA2270175895 | SCN4A | c.273+39C= (n.273+39C=)
| |
17 | g.63972530G>T | CA627150426 | SCN4A | c.273+39C>A (n.273+39C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972533G>A | CA2270175897 | SCN4A | c.273+36C>T (n.273+36C>T)
| dbSNP |
17 | g.63972533G= | CA2270175896 | SCN4A | c.273+36C= (n.273+36C=)
| |
17 | g.63972534_63972537dup | CA2639312616 | SCN4A | c.273+33_273+36dup (n.273+33_273+36dup)
| gnomAD v4 |
17 | g.63972534G>A | CA2810128110 | SCN4A | c.273+35C>T (n.273+35C>T)
| |
17 | g.63972534_63972538delinsGCAGA | CA2270175898 | SCN4A | c.273+31_273+35delinsTCTGC (n.273+31_273+35delinsTCTGC)
| |
17 | g.63972535C= | CA2270175899 | SCN4A | c.273+34G= (n.273+34G=)
| |
17 | g.63972535C>G | CA2270175900 | SCN4A | c.273+34G>C (n.273+34G>C)
| dbSNP |
17 | g.63972543_63972546dup | CA627150427 | SCN4A | c.273+31_273+34dup (n.273+31_273+34dup)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63972543_63972546del | CA919876414 | SCN4A | c.273+31_273+34del (n.273+31_273+34del)
| dbSNP gnomAD v4 |
17 | g.63972539C>G | CA2810128111 | SCN4A | c.273+30G>C (n.273+30G>C)
| |
17 | g.63972540A>T | CA2639312625 | SCN4A | c.273+29T>A (n.273+29T>A)
| gnomAD v4 |
17 | g.63972541G>A | CA2639312628 | SCN4A | c.273+28C>T (n.273+28C>T)
| gnomAD v4 |
17 | g.63972541G>C | CA2270175902 | SCN4A | c.273+28C>G (n.273+28C>G)
| dbSNP gnomAD v4 |
17 | g.63972541G= | CA2270175901 | SCN4A | c.273+28C= (n.273+28C=)
| |
17 | g.63972543C= | CA2270175903 | SCN4A | c.273+26G= (n.273+26G=)
| |
17 | g.63972543C>G | CA774008779 | SCN4A | c.273+26G>C (n.273+26G>C)
| dbSNP |
17 | g.63972543C>T | CA2639312633 | SCN4A | c.273+26G>A (n.273+26G>A)
| gnomAD v4 |
17 | g.63972545G>A | CA8710229 | SCN4A | c.273+24C>T (n.273+24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972545G= | CA2270175904 | SCN4A | c.273+24C= (n.273+24C=)
| |
17 | g.63972546_63972547delinsAG | CA2270175905 | SCN4A | c.273+22_273+23delinsCT (n.273+22_273+23delinsCT)
| |
17 | g.63972547G>A | CA292972874 | SCN4A | c.273+22C>T (n.273+22C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972547G= | CA2270175906 | SCN4A | c.273+22C= (n.273+22C=)
| |
17 | g.63972548del | CA8710230 | SCN4A | c.273+22del (n.273+22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972548G>A | CA627150428 | SCN4A | c.273+21C>T (n.273+21C>T)
| dbSNP gnomAD v2 |
17 | g.63972548G= | CA2270175907 | SCN4A | c.273+21C= (n.273+21C=)
| |
17 | g.63972550del | CA2639312637 | SCN4A | c.273+20del (n.273+20del)
| gnomAD v4 |
17 | g.63972550A= | CA2270175908 | SCN4A | c.273+19T= (n.273+19T=)
| |
17 | g.63972550A>C | CA8710231 | SCN4A | c.273+19T>G (n.273+19T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972550A>G | CA2639312646 | SCN4A | c.273+19T>C (n.273+19T>C)
| gnomAD v4 |
17 | g.63972551G>T | CA656835729 | SCN4A | c.273+18C>A (n.273+18C>A)
| gnomAD v4 COSMIC |
17 | g.63972552C>A | CA8710233 | SCN4A | c.273+17G>T (n.273+17G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972552C= | CA2270175909 | SCN4A | c.273+17G= (n.273+17G=)
| |
17 | g.63972552C>G | CA8710232 | SCN4A | c.273+17G>C (n.273+17G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972552C>T | CA8710234 | SCN4A | c.273+17G>A (n.273+17G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972553C= | CA2270175910 | SCN4A | c.273+16G= (n.273+16G=)
| |
17 | g.63972553C>T | CA8710235 | SCN4A | c.273+16G>A (n.273+16G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972555T>C | CA2639312665 | SCN4A | c.273+14A>G (n.273+14A>G)
| gnomAD v4 |
17 | g.63972556C>A | CA2639312666 | SCN4A | c.273+13G>T (n.273+13G>T)
| gnomAD v4 |
17 | g.63972557C>A | CA2639312667 | SCN4A | c.273+12G>T (n.273+12G>T)
| gnomAD v4 |
17 | g.63972557C= | CA2270175911 | SCN4A | c.273+12G= (n.273+12G=)
| |
17 | g.63972557C>T | CA2270175912 | SCN4A | c.273+12G>A (n.273+12G>A)
| dbSNP |
17 | g.63972558C>A | CA2639312668 | SCN4A | c.273+11G>T (n.273+11G>T)
| gnomAD v4 |
17 | g.63972558C>T | CA2639312669 | SCN4A | c.273+11G>A (n.273+11G>A)
| gnomAD v4 |
17 | g.63972559A= | CA2270175913 | SCN4A | c.273+10T= (n.273+10T=)
| |
17 | g.63972559A>T | CA8710236 | SCN4A | c.273+10T>A (n.273+10T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972560G>A | CA2639312672 | SCN4A | c.273+9C>T (n.273+9C>T)
| gnomAD v4 |
17 | g.63972561G>A | CA2639312673 | SCN4A | c.273+8C>T (n.273+8C>T)
| gnomAD v4 |
17 | g.63972561G= | CA2270175914 | SCN4A | c.273+8C= (n.273+8C=)
| |
17 | g.63972561G>T | CA774008786 | SCN4A | c.273+8C>A (n.273+8C>A)
| ClinVar dbSNP |
17 | g.63972562C>A | CA2639312674 | SCN4A | c.273+7G>T (n.273+7G>T)
| gnomAD v4 |
17 | g.63972562C= | CA2270175915 | SCN4A | c.273+7G= (n.273+7G=)
| |
17 | g.63972562C>T | CA8710237 | SCN4A | c.273+7G>A (n.273+7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63972564del | CA2576356272 | SCN4A | c.273+7del (n.273+7del)
| |
17 | g.63972567A>C | CA400640102 | SCN4A | c.273+2T>G (n.273+2T>G)
| |
17 | g.63972567A>G | CA400640103 | SCN4A | c.273+2T>C (n.273+2T>C)
| gnomAD v4 |
17 | g.63972567A>T | CA400640104 | SCN4A | c.273+2T>A (n.273+2T>A)
| |
17 | g.63972568C>A | CA8710238 | SCN4A | c.273+1G>T (n.273+1G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972568C= | CA2270175916 | SCN4A | c.273+1G= (n.273+1G=)
| |
17 | g.63972568C>G | CA400640105 | SCN4A | c.273+1G>C (n.273+1G>C)
| |
17 | g.63972568C>T | CA400640106 | SCN4A | c.273+1G>A (n.273+1G>A)
| gnomAD v4 |
17 | g.63972568_63972571delinsCCTT | CA2270175917 | SCN4A | c.271_273+1delinsAAGG
| |
17 | g.63972569C>A | CA400640107 | SCN4A | c.273G>T (p.Lys91Asn)
| gnomAD v4 |
17 | g.63972569C>G | CA400640108 | SCN4A | c.273G>C (p.Lys91Asn)
| |
17 | g.63972569C>T | CA501348991 | SCN4A | c.273G>A (p.Lys91=)
| gnomAD v4 |
17 | g.63972572_63972574del | CA292972882 | SCN4A | c.271_273del (p.Lys91del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63972570T>A | CA400640109 | SCN4A | c.272A>T (p.Lys91Met)
| |
17 | g.63972570T>C | CA400640110 | SCN4A | c.272A>G (p.Lys91Arg)
| |
17 | g.63972570T>G | CA400640111 | SCN4A | c.272A>C (p.Lys91Thr)
| |
17 | g.63972571T>A | CA400640114 | SCN4A | c.271A>T (p.Lys91Ter)
| |
17 | g.63972571T>C | CA400640112 | SCN4A | c.271A>G (p.Lys91Glu)
| |
17 | g.63972571T>G | CA400640113 | SCN4A | c.271A>C (p.Lys91Gln)
| |
17 | g.63972572C>A | CA400640115 | SCN4A | c.270G>T (p.Lys90Asn)
| dbSNP gnomAD v4 |
17 | g.63972572C= | CA2270175919 | SCN4A | c.270G= (p.Lys90=)
| |
17 | g.63972572C>G | CA400640116 | SCN4A | c.270G>C (p.Lys90Asn)
| |
17 | g.63972572C>T | CA501348992 | SCN4A | c.270G>A (p.Lys90=)
| |
17 | g.63972572_63972574delinsCTT | CA2270175918 | SCN4A | c.268_270delinsAAG (p.Lys90=)
| |
17 | g.63972573T>A | CA400640117 | SCN4A | c.269A>T (p.Lys90Met)
| |
17 | g.63972573T>C | CA400640118 | SCN4A | c.269A>G (p.Lys90Arg)
| |
17 | g.63972573T>G | CA400640119 | SCN4A | c.269A>C (p.Lys90Thr)
| |
17 | g.63972573_63972574del | CA891863036 | SCN4A | c.268_269del (p.Lys90GlufsTer?)
| ClinVar dbSNP |