| 17 | g.63945308del | CA985428775 | SCN4A | c.3720+55del (n.3720+55del)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945312_63945345del | CA2639311491 | SCN4A | c.3720+22_3720+55del (n.3720+22_3720+55del)
| gnomAD v4 |
| 17 | g.63945308G>A | CA2639311523 | SCN4A | c.3720+52C>T (n.3720+52C>T)
| gnomAD v4 |
| 17 | g.63945308G>T | CA2639311524 | SCN4A | c.3720+52C>A (n.3720+52C>A)
| gnomAD v4 |
| 17 | g.63945309T>A | CA2639311526 | SCN4A | c.3720+51A>T (n.3720+51A>T)
| gnomAD v4 |
| 17 | g.63945309T>C | CA2639311527 | SCN4A | c.3720+51A>G (n.3720+51A>G)
| gnomAD v4 |
| 17 | g.63945309T>G | CA2270162972 | SCN4A | c.3720+51A>C (n.3720+51A>C)
| dbSNP gnomAD v4 |
| 17 | g.63945309T= | CA2270162971 | SCN4A | c.3720+51A= (n.3720+51A=)
| |
| 17 | g.63945310G>A | CA8709186 | SCN4A | c.3720+50C>T (n.3720+50C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945310G>C | CA8709185 | SCN4A | c.3720+50C>G (n.3720+50C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945310G= | CA2270162973 | SCN4A | c.3720+50C= (n.3720+50C=)
| |
| 17 | g.63945310G>T | CA627150280 | SCN4A | c.3720+50C>A (n.3720+50C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945315dup | CA2500048125 | SCN4A | c.3720+50dup (n.3720+50dup)
| gnomAD v4 |
| 17 | g.63945315del | CA2576355615 | SCN4A | c.3720+50del (n.3720+50del)
| gnomAD v4 |
| 17 | g.63945311G>A | CA627150281 | SCN4A | c.3720+49C>T (n.3720+49C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945311G= | CA2270162974 | SCN4A | c.3720+49C= (n.3720+49C=)
| |
| 17 | g.63945311G>T | CA2639311577 | SCN4A | c.3720+49C>A (n.3720+49C>A)
| gnomAD v4 |
| 17 | g.63945312G>A | CA292961537 | SCN4A | c.3720+48C>T (n.3720+48C>T)
| dbSNP gnomAD v4 |
| 17 | g.63945312G= | CA2270162975 | SCN4A | c.3720+48C= (n.3720+48C=)
| |
| 17 | g.63945312G>T | CA2639311585 | SCN4A | c.3720+48C>A (n.3720+48C>A)
| gnomAD v4 |
| 17 | g.63945313G>A | CA8709187 | SCN4A | c.3720+47C>T (n.3720+47C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945313G= | CA2270162976 | SCN4A | c.3720+47C= (n.3720+47C=)
| |
| 17 | g.63945313G>T | CA2639311591 | SCN4A | c.3720+47C>A (n.3720+47C>A)
| gnomAD v4 |
| 17 | g.63945314G>A | CA8709188 | SCN4A | c.3720+46C>T (n.3720+46C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945314G= | CA2270162977 | SCN4A | c.3720+46C= (n.3720+46C=)
| |
| 17 | g.63945314G>T | CA2639311596 | SCN4A | c.3720+46C>A (n.3720+46C>A)
| gnomAD v4 |
| 17 | g.63945315G>A | CA2576355616 | SCN4A | c.3720+45C>T (n.3720+45C>T)
| gnomAD v4 |
| 17 | g.63945315G>C | CA2576355617 | SCN4A | c.3720+45C>G (n.3720+45C>G)
| |
| 17 | g.63945315G>T | CA2639311601 | SCN4A | c.3720+45C>A (n.3720+45C>A)
| gnomAD v4 |
| 17 | g.63945316del | CA2639311604 | SCN4A | c.3720+44del (n.3720+44del)
| gnomAD v4 |
| 17 | g.63945316C>A | CA2639311605 | SCN4A | c.3720+44G>T (n.3720+44G>T)
| gnomAD v4 |
| 17 | g.63945316C= | CA2270162978 | SCN4A | c.3720+44G= (n.3720+44G=)
| |
| 17 | g.63945316C>T | CA8709189 | SCN4A | c.3720+44G>A (n.3720+44G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945317A= | CA2270162980 | SCN4A | c.3720+43T= (n.3720+43T=)
| |
| 17 | g.63945317A>C | CA2270162979 | SCN4A | c.3720+43T>G (n.3720+43T>G)
| dbSNP |
| 17 | g.63945317A>G | CA627150282 | SCN4A | c.3720+43T>C (n.3720+43T>C)
| dbSNP gnomAD v2 |
| 17 | g.63945317A>T | CA2639311613 | SCN4A | c.3720+43T>A (n.3720+43T>A)
| gnomAD v4 |
| 17 | g.63945318C>A | CA2639311639 | SCN4A | c.3720+42G>T (n.3720+42G>T)
| gnomAD v4 |
| 17 | g.63945318C= | CA2270162981 | SCN4A | c.3720+42G= (n.3720+42G=)
| |
| 17 | g.63945318C>T | CA292961554 | SCN4A | c.3720+42G>A (n.3720+42G>A)
| dbSNP gnomAD v4 |
| 17 | g.63945319C>A | CA774009106 | SCN4A | c.3720+41G>T (n.3720+41G>T)
| dbSNP gnomAD v4 |
| 17 | g.63945319C= | CA2270162982 | SCN4A | c.3720+41G= (n.3720+41G=)
| |
| 17 | g.63945319C>T | CA2639311645 | SCN4A | c.3720+41G>A (n.3720+41G>A)
| gnomAD v4 |
| 17 | g.63945320T>C | CA2639311649 | SCN4A | c.3720+40A>G (n.3720+40A>G)
| gnomAD v4 |
| 17 | g.63945322C>A | CA2639311651 | SCN4A | c.3720+38G>T (n.3720+38G>T)
| gnomAD v4 |
| 17 | g.63945322C= | CA2270162983 | SCN4A | c.3720+38G= (n.3720+38G=)
| |
| 17 | g.63945322C>T | CA774009107 | SCN4A | c.3720+38G>A (n.3720+38G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945323A= | CA2270162447 | SCN4A | c.3720+37T= (n.3720+37T=)
| |
| 17 | g.63945323A>C | CA2639311656 | SCN4A | c.3720+37T>G (n.3720+37T>G)
| gnomAD v4 |
| 17 | g.63945323A>G | CA8709190 | SCN4A | c.3720+37T>C (n.3720+37T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945323A>T | CA627150283 | SCN4A | c.3720+37T>A (n.3720+37T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945325C= | CA2270162448 | SCN4A | c.3720+35G= (n.3720+35G=)
| |
| 17 | g.63945325C>T | CA627150284 | SCN4A | c.3720+35G>A (n.3720+35G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945326C>A | CA2639311664 | SCN4A | c.3720+34G>T (n.3720+34G>T)
| gnomAD v4 |
| 17 | g.63945327A>G | CA2639311665 | SCN4A | c.3720+33T>C (n.3720+33T>C)
| gnomAD v4 |
| 17 | g.63945328G>A | CA627150285 | SCN4A | c.3720+32C>T (n.3720+32C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945328G= | CA2270162449 | SCN4A | c.3720+32C= (n.3720+32C=)
| |
| 17 | g.63945328G>T | CA2639311672 | SCN4A | c.3720+32C>A (n.3720+32C>A)
| gnomAD v4 |
| 17 | g.63945329G>A | CA8709191 | SCN4A | c.3720+31C>T (n.3720+31C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945329G= | CA2270162450 | SCN4A | c.3720+31C= (n.3720+31C=)
| |
| 17 | g.63945329G>T | CA627150286 | SCN4A | c.3720+31C>A (n.3720+31C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945330T>C | CA2639311681 | SCN4A | c.3720+30A>G (n.3720+30A>G)
| gnomAD v4 |
| 17 | g.63945330T>G | CA2810127568 | SCN4A | c.3720+30A>C (n.3720+30A>C)
| |
| 17 | g.63945331T>C | CA2639311684 | SCN4A | c.3720+29A>G (n.3720+29A>G)
| gnomAD v4 |
| 17 | g.63945332C>A | CA2639311691 | SCN4A | c.3720+28G>T (n.3720+28G>T)
| gnomAD v4 |
| 17 | g.63945332C= | CA2270162451 | SCN4A | c.3720+28G= (n.3720+28G=)
| |
| 17 | g.63945332C>G | CA2639311689 | SCN4A | c.3720+28G>C (n.3720+28G>C)
| gnomAD v4 |
| 17 | g.63945332C>T | CA8709192 | SCN4A | c.3720+28G>A (n.3720+28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945333C= | CA2270162452 | SCN4A | c.3720+27G= (n.3720+27G=)
| |
| 17 | g.63945333C>T | CA627150287 | SCN4A | c.3720+27G>A (n.3720+27G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945334C>A | CA2639311695 | SCN4A | c.3720+26G>T (n.3720+26G>T)
| gnomAD v4 |
| 17 | g.63945334C= | CA2270162453 | SCN4A | c.3720+26G= (n.3720+26G=)
| |
| 17 | g.63945334C>G | CA8709194 | SCN4A | c.3720+26G>C (n.3720+26G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945334C>T | CA8709193 | SCN4A | c.3720+26G>A (n.3720+26G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945335G>A | CA8709195 | SCN4A | c.3720+25C>T (n.3720+25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945335G= | CA2270162454 | SCN4A | c.3720+25C= (n.3720+25C=)
| |
| 17 | g.63945335G>T | CA2639311699 | SCN4A | c.3720+25C>A (n.3720+25C>A)
| gnomAD v4 |
| 17 | g.63945336G>A | CA774009118 | SCN4A | c.3720+24C>T (n.3720+24C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945336G= | CA2270162455 | SCN4A | c.3720+24C= (n.3720+24C=)
| |
| 17 | g.63945336G>T | CA2639311744 | SCN4A | c.3720+24C>A (n.3720+24C>A)
| gnomAD v4 |
| 17 | g.63945337C>A | CA627150288 | SCN4A | c.3720+23G>T (n.3720+23G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945337C= | CA2270162456 | SCN4A | c.3720+23G= (n.3720+23G=)
| |
| 17 | g.63945337C>T | CA985428804 | SCN4A | c.3720+23G>A (n.3720+23G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945338A= | CA2270162457 | SCN4A | c.3720+22T= (n.3720+22T=)
| |
| 17 | g.63945338A>G | CA627150289 | SCN4A | c.3720+22T>C (n.3720+22T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945338_63945339delinsAG | CA2270162458 | SCN4A | c.3720+21_3720+22delinsCT (n.3720+21_3720+22delinsCT)
| |
| 17 | g.63945339G>A | CA8709197 | SCN4A | c.3720+21C>T (n.3720+21C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945339G= | CA2270162459 | SCN4A | c.3720+21C= (n.3720+21C=)
| |
| 17 | g.63945339G>T | CA8709196 | SCN4A | c.3720+21C>A (n.3720+21C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945342del | CA627150290 | SCN4A | c.3720+21del (n.3720+21del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945340G>A | CA985428829 | SCN4A | c.3720+20C>T (n.3720+20C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945340G= | CA2270162460 | SCN4A | c.3720+20C= (n.3720+20C=)
| |
| 17 | g.63945340G>T | CA627150291 | SCN4A | c.3720+20C>A (n.3720+20C>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945341G>A | CA8709198 | SCN4A | c.3720+19C>T (n.3720+19C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945341G= | CA2270162461 | SCN4A | c.3720+19C= (n.3720+19C=)
| |
| 17 | g.63945341G>T | CA2639311756 | SCN4A | c.3720+19C>A (n.3720+19C>A)
| gnomAD v4 |
| 17 | g.63945342G= | CA2270162462 | SCN4A | c.3720+18C= (n.3720+18C=)
| |
| 17 | g.63945342G>T | CA2270162463 | SCN4A | c.3720+18C>A (n.3720+18C>A)
| dbSNP gnomAD v4 |
| 17 | g.63945343T>C | CA8709200 | SCN4A | c.3720+17A>G (n.3720+17A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945343T>G | CA8709199 | SCN4A | c.3720+17A>C (n.3720+17A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945343T= | CA2270162464 | SCN4A | c.3720+17A= (n.3720+17A=)
| |
| 17 | g.63945344G>A | CA2639311762 | SCN4A | c.3720+16C>T (n.3720+16C>T)
| gnomAD v4 |
| 17 | g.63945346T>G | CA8709201 | SCN4A | c.3720+14A>C (n.3720+14A>C)
| dbSNP ExAC gnomAD v2 |
| 17 | g.63945346T= | CA2270162465 | SCN4A | c.3720+14A= (n.3720+14A=)
| |
| 17 | g.63945347G= | CA2270162466 | SCN4A | c.3720+13C= (n.3720+13C=)
| |
| 17 | g.63945347G>T | CA8709202 | SCN4A | c.3720+13C>A (n.3720+13C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945348G>A | CA2576355618 | SCN4A | c.3720+12C>T (n.3720+12C>T)
| |
| 17 | g.63945348G= | CA2270162467 | SCN4A | c.3720+12C= (n.3720+12C=)
| |
| 17 | g.63945348G>T | CA627150292 | SCN4A | c.3720+12C>A (n.3720+12C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945349G>A | CA2576355619 | SCN4A | c.3720+11C>T (n.3720+11C>T)
| |
| 17 | g.63945350T>A | CA2639311766 | SCN4A | c.3720+10A>T (n.3720+10A>T)
| gnomAD v4 |
| 17 | g.63945350T>C | CA8709203 | SCN4A | c.3720+10A>G (n.3720+10A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945350T>G | CA2270162469 | SCN4A | c.3720+10A>C (n.3720+10A>C)
| dbSNP |
| 17 | g.63945350T= | CA2270162468 | SCN4A | c.3720+10A= (n.3720+10A=)
| |
| 17 | g.63945350_63945351dup | CA16044103 | SCN4A | c.3720+9_3720+10dup (n.3720+9_3720+10dup)
| |
| 17 | g.63945351C>A | CA8709204 | SCN4A | c.3720+9G>T (n.3720+9G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945351C= | CA2270162470 | SCN4A | c.3720+9G= (n.3720+9G=)
| |
| 17 | g.63945351C>T | CA627150293 | SCN4A | c.3720+9G>A (n.3720+9G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945351_63945352insT | CA16044104 | SCN4A | c.3720+8_3720+9insA (n.3720+8_3720+9insA)
| |
| 17 | g.63945353C= | CA2270162472 | SCN4A | c.3720+7G= (n.3720+7G=)
| |
| 17 | g.63945353C>T | CA8709205 | SCN4A | c.3720+7G>A (n.3720+7G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945354A= | CA2270162473 | SCN4A | c.3720+6T= (n.3720+6T=)
| |
| 17 | g.63945354A>G | CA774009129 | SCN4A | c.3720+6T>C (n.3720+6T>C)
| ClinVar dbSNP |
| 17 | g.63945355C>A | CA2741548946 | SCN4A | c.3720+5G>T (n.3720+5G>T)
| |
| 17 | g.63945355C= | CA2270162474 | SCN4A | c.3720+5G= (n.3720+5G=)
| |
| 17 | g.63945355C>T | CA627150294 | SCN4A | c.3720+5G>A (n.3720+5G>A)
| dbSNP gnomAD v2 |
| 17 | g.63945357C= | CA2270162475 | SCN4A | c.3720+3G= (n.3720+3G=)
| |
| 17 | g.63945357C>G | CA985428851 | SCN4A | c.3720+3G>C (n.3720+3G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945357C>T | CA627150295 | SCN4A | c.3720+3G>A (n.3720+3G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945358A>C | CA400617669 | SCN4A | c.3720+2T>G (n.3720+2T>G)
| |
| 17 | g.63945358A>G | CA400617670 | SCN4A | c.3720+2T>C (n.3720+2T>C)
| |
| 17 | g.63945358A>T | CA400617671 | SCN4A | c.3720+2T>A (n.3720+2T>A)
| |
| 17 | g.63945359C>A | CA400617672 | SCN4A | c.3720+1G>T (n.3720+1G>T)
| |
| 17 | g.63945359C>G | CA400617673 | SCN4A | c.3720+1G>C (n.3720+1G>C)
| |
| 17 | g.63945359C>T | CA400617674 | SCN4A | c.3720+1G>A (n.3720+1G>A)
| |
| 17 | g.63945360C>A | CA501348556 | SCN4A | c.3720G>T (p.Val1240=)
| |
| 17 | g.63945360C= | CA2270162476 | SCN4A | c.3720G= (p.Val1240=)
| |
| 17 | g.63945360C>G | CA501348557 | SCN4A | c.3720G>C (p.Val1240=)
| |
| 17 | g.63945360C>T | CA501348559 | SCN4A | c.3720G>A (p.Val1240=)
| ClinVar dbSNP |
| 17 | g.63945361A>C | CA400617675 | SCN4A | c.3719T>G (p.Val1240Gly)
| |
| 17 | g.63945361A>G | CA400617676 | SCN4A | c.3719T>C (p.Val1240Ala)
| gnomAD v4 |
| 17 | g.63945361A>T | CA400617677 | SCN4A | c.3719T>A (p.Val1240Glu)
| |
| 17 | g.63945362C>A | CA400617678 | SCN4A | c.3718G>T (p.Val1240Leu)
| |
| 17 | g.63945362C>G | CA400617680 | SCN4A | c.3718G>C (p.Val1240Leu)
| |
| 17 | g.63945362C>T | CA400617679 | SCN4A | c.3718G>A (p.Val1240Met)
| |
| 17 | g.63945363C>A | CA400617681 | SCN4A | c.3717G>T (p.Gln1239His)
| |
| 17 | g.63945363C>G | CA400617682 | SCN4A | c.3717G>C (p.Gln1239His)
| |
| 17 | g.63945363C>T | CA501348560 | SCN4A | c.3717G>A (p.Gln1239=)
| |
| 17 | g.63945364T>A | CA400617683 | SCN4A | c.3716A>T (p.Gln1239Leu)
| |
| 17 | g.63945364T>C | CA400617684 | SCN4A | c.3716A>G (p.Gln1239Arg)
| |
| 17 | g.63945364T>G | CA400617685 | SCN4A | c.3716A>C (p.Gln1239Pro)
| |
| 17 | g.63945365G>A | CA400617686 | SCN4A | c.3715C>T (p.Gln1239Ter)
| gnomAD v4 |
| 17 | g.63945365G>C | CA400617687 | SCN4A | c.3715C>G (p.Gln1239Glu)
| |
| 17 | g.63945365G>T | CA400617688 | SCN4A | c.3715C>A (p.Gln1239Lys)
| |
| 17 | g.63945366C>A | CA501348564 | SCN4A | c.3714G>T (p.Leu1238=)
| |
| 17 | g.63945366C>G | CA501348566 | SCN4A | c.3714G>C (p.Leu1238=)
| |
| 17 | g.63945366C>T | CA501348568 | SCN4A | c.3714G>A (p.Leu1238=)
| |
| 17 | g.63945367A>C | CA400617689 | SCN4A | c.3713T>G (p.Leu1238Arg)
| |
| 17 | g.63945367A>G | CA400617690 | SCN4A | c.3713T>C (p.Leu1238Pro)
| |
| 17 | g.63945367A>T | CA400617691 | SCN4A | c.3713T>A (p.Leu1238Gln)
| |
| 17 | g.63945368G>A | CA501348570 | SCN4A | c.3712C>T (p.Leu1238=)
| dbSNP |
| 17 | g.63945368G>C | CA400617694 | SCN4A | c.3712C>G (p.Leu1238Val)
| |
| 17 | g.63945368G= | CA2270162478 | SCN4A | c.3712C= (p.Leu1238=)
| |
| 17 | g.63945368G>T | CA400617692 | SCN4A | c.3712C>A (p.Leu1238Met)
| |
| 17 | g.63945369G>A | CA501348571 | SCN4A | c.3711C>T (p.Leu1237=)
| gnomAD v4 |
| 17 | g.63945369G>C | CA501348572 | SCN4A | c.3711C>G (p.Leu1237=)
| COSMIC |
| 17 | g.63945369G>T | CA501348573 | SCN4A | c.3711C>A (p.Leu1237=)
| |
| 17 | g.63945370A>C | CA400617695 | SCN4A | c.3710T>G (p.Leu1237Arg)
| |
| 17 | g.63945370A>G | CA400617696 | SCN4A | c.3710T>C (p.Leu1237Pro)
| |
| 17 | g.63945370A>T | CA400617697 | SCN4A | c.3710T>A (p.Leu1237His)
| |
| 17 | g.63945371G>A | CA400617698 | SCN4A | c.3709C>T (p.Leu1237Phe)
| |
| 17 | g.63945371G>C | CA400617699 | SCN4A | c.3709C>G (p.Leu1237Val)
| dbSNP |
| 17 | g.63945371G= | CA2270162480 | SCN4A | c.3709C= (p.Leu1237=)
| |
| 17 | g.63945371G>T | CA400617700 | SCN4A | c.3709C>A (p.Leu1237Ile)
| |
| 17 | g.63945372G>A | CA501348579 | SCN4A | c.3708C>T (p.Ser1236=)
| |
| 17 | g.63945372G>C | CA501348577 | SCN4A | c.3708C>G (p.Ser1236=)
| |
| 17 | g.63945372G>T | CA501348578 | SCN4A | c.3708C>A (p.Ser1236=)
| |
| 17 | g.63945373G>A | CA8709206 | SCN4A | c.3707C>T (p.Ser1236Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.63945373G>C | CA400617701 | SCN4A | c.3707C>G (p.Ser1236Cys)
| |
| 17 | g.63945373G= | CA2270162482 | SCN4A | c.3707C= (p.Ser1236=)
| |
| 17 | g.63945373G>T | CA400617702 | SCN4A | c.3707C>A (p.Ser1236Tyr)
| |
| 17 | g.63945374A>C | CA400617703 | SCN4A | c.3706T>G (p.Ser1236Ala)
| |
| 17 | g.63945374A>G | CA400617704 | SCN4A | c.3706T>C (p.Ser1236Pro)
| |
| 17 | g.63945374A>T | CA400617705 | SCN4A | c.3706T>A (p.Ser1236Thr)
| |
| 17 | g.63945375G>A | CA501348581 | SCN4A | c.3705C>T (p.Leu1235=)
| |
| 17 | g.63945375G>C | CA501348582 | SCN4A | c.3705C>G (p.Leu1235=)
| |
| 17 | g.63945375G>T | CA501348583 | SCN4A | c.3705C>A (p.Leu1235=)
| |
| 17 | g.63945376A>C | CA400617707 | SCN4A | c.3704T>G (p.Leu1235Arg)
| COSMIC |
| 17 | g.63945376A>G | CA400617708 | SCN4A | c.3704T>C (p.Leu1235Pro)
| gnomAD v4 |
| 17 | g.63945376A>T | CA400617706 | SCN4A | c.3704T>A (p.Leu1235His)
| gnomAD v4 |
| 17 | g.63945377G>A | CA400617709 | SCN4A | c.3703C>T (p.Leu1235Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945377G>C | CA400617710 | SCN4A | c.3703C>G (p.Leu1235Val)
| |
| 17 | g.63945377G= | CA2270162486 | SCN4A | c.3703C= (p.Leu1235=)
| |
| 17 | g.63945377G>T | CA400617711 | SCN4A | c.3703C>A (p.Leu1235Ile)
| dbSNP |
| 17 | g.63945378del | CA2639311805 | SCN4A | c.3703del (p.Leu1235SerfsTer?)
| gnomAD v4 |
| 17 | g.63945378G>A | CA501348585 | SCN4A | c.3702C>T (p.Tyr1234=)
| |
| 17 | g.63945378G>C | CA400617712 | SCN4A | c.3702C>G (p.Tyr1234Ter)
| |
| 17 | g.63945378G>T | CA400617713 | SCN4A | c.3702C>A (p.Tyr1234Ter)
| |
| 17 | g.63945379T>A | CA400617716 | SCN4A | c.3701A>T (p.Tyr1234Phe)
| dbSNP |
| 17 | g.63945379T>C | CA400617714 | SCN4A | c.3701A>G (p.Tyr1234Cys)
| |
| 17 | g.63945379T>G | CA400617715 | SCN4A | c.3701A>C (p.Tyr1234Ser)
| |
| 17 | g.63945379T= | CA2270162490 | SCN4A | c.3701A= (p.Tyr1234=)
| |
| 17 | g.63945380A>C | CA400617717 | SCN4A | c.3700T>G (p.Tyr1234Asp)
| |
| 17 | g.63945380A>G | CA400617718 | SCN4A | c.3700T>C (p.Tyr1234His)
| |
| 17 | g.63945380A>T | CA400617719 | SCN4A | c.3700T>A (p.Tyr1234Asn)
| |
| 17 | g.63945381G>A | CA501348590 | SCN4A | c.3699C>T (p.Gly1233=)
| |
| 17 | g.63945381G>C | CA501348592 | SCN4A | c.3699C>G (p.Gly1233=)
| ClinVar |
| 17 | g.63945381G>T | CA501348593 | SCN4A | c.3699C>A (p.Gly1233=)
| |
| 17 | g.63945382C>A | CA400617720 | SCN4A | c.3698G>T (p.Gly1233Val)
| gnomAD v4 |
| 17 | g.63945382C>G | CA400617721 | SCN4A | c.3698G>C (p.Gly1233Ala)
| |
| 17 | g.63945382C>T | CA400617722 | SCN4A | c.3698G>A (p.Gly1233Asp)
| |
| 17 | g.63945383C>A | CA400617724 | SCN4A | c.3697G>T (p.Gly1233Cys)
| COSMIC |
| 17 | g.63945383C>G | CA400617725 | SCN4A | c.3697G>C (p.Gly1233Arg)
| |
| 17 | g.63945383C>T | CA400617723 | SCN4A | c.3697G>A (p.Gly1233Ser)
| |
| 17 | g.63945384C>A | CA501348595 | SCN4A | c.3696G>T (p.Leu1232=)
| |
| 17 | g.63945384C>G | CA501348597 | SCN4A | c.3696G>C (p.Leu1232=)
| |
| 17 | g.63945384C>T | CA501348599 | SCN4A | c.3696G>A (p.Leu1232=)
| ClinVar dbSNP |
| 17 | g.63945385A>C | CA400617726 | SCN4A | c.3695T>G (p.Leu1232Arg)
| |
| 17 | g.63945385A>G | CA400617727 | SCN4A | c.3695T>C (p.Leu1232Pro)
| |
| 17 | g.63945385A>T | CA400617728 | SCN4A | c.3695T>A (p.Leu1232Gln)
| |
| 17 | g.63945386G>A | CA501348602 | SCN4A | c.3694C>T (p.Leu1232=)
| gnomAD v4 |
| 17 | g.63945386G>C | CA400617729 | SCN4A | c.3694C>G (p.Leu1232Val)
| |
| 17 | g.63945386G>T | CA400617730 | SCN4A | c.3694C>A (p.Leu1232Met)
| |
| 17 | g.63945387A>C | CA501348604 | SCN4A | c.3693T>G (p.Gly1231=)
| |
| 17 | g.63945387A>G | CA501348606 | SCN4A | c.3693T>C (p.Gly1231=)
| gnomAD v4 |
| 17 | g.63945387A>T | CA501348603 | SCN4A | c.3693T>A (p.Gly1231=)
| |
| 17 | g.63945388C>A | CA400617733 | SCN4A | c.3692G>T (p.Gly1231Val)
| |
| 17 | g.63945388C= | CA2270162492 | SCN4A | c.3692G= (p.Gly1231=)
| |
| 17 | g.63945388C>G | CA400617732 | SCN4A | c.3692G>C (p.Gly1231Ala)
| |
| 17 | g.63945388C>T | CA400617731 | SCN4A | c.3692G>A (p.Gly1231Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945389C>A | CA400617734 | SCN4A | c.3691G>T (p.Gly1231Cys)
| |
| 17 | g.63945389C>G | CA400617735 | SCN4A | c.3691G>C (p.Gly1231Arg)
| |
| 17 | g.63945389C>T | CA400617736 | SCN4A | c.3691G>A (p.Gly1231Ser)
| |
| 17 | g.63945390C>A | CA501348607 | SCN4A | c.3690G>T (p.Val1230=)
| |
| 17 | g.63945390C>G | CA501348608 | SCN4A | c.3690G>C (p.Val1230=)
| |
| 17 | g.63945390C>T | CA501348609 | SCN4A | c.3690G>A (p.Val1230=)
| |
| 17 | g.63945391A= | CA2270162496 | SCN4A | c.3689T= (p.Val1230=)
| |
| 17 | g.63945391A>C | CA400617737 | SCN4A | c.3689T>G (p.Val1230Gly)
| |
| 17 | g.63945391A>G | CA400617738 | SCN4A | c.3689T>C (p.Val1230Ala)
| dbSNP |
| 17 | g.63945391A>T | CA400617739 | SCN4A | c.3689T>A (p.Val1230Glu)
| |
| 17 | g.63945392C>A | CA400617741 | SCN4A | c.3688G>T (p.Val1230Leu)
| |
| 17 | g.63945392C= | CA2270162501 | SCN4A | c.3688G= (p.Val1230=)
| |
| 17 | g.63945392C>G | CA400617740 | SCN4A | c.3688G>C (p.Val1230Leu)
| |
| 17 | g.63945392C>T | CA8709207 | SCN4A | c.3688G>A (p.Val1230Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945393G>A | CA501348610 | SCN4A | c.3687C>T (p.Asn1229=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.63945393G>C | CA400617742 | SCN4A | c.3687C>G (p.Asn1229Lys)
| |
| 17 | g.63945393G= | CA2270162505 | SCN4A | c.3687C= (p.Asn1229=)
| |
| 17 | g.63945393G>T | CA400617743 | SCN4A | c.3687C>A (p.Asn1229Lys)
| |
| 17 | g.63945394T>A | CA400617744 | SCN4A | c.3686A>T (p.Asn1229Ile)
| |
| 17 | g.63945394T>C | CA292961573 | SCN4A | c.3686A>G (p.Asn1229Ser)
| ClinVar dbSNP |
| 17 | g.63945394T>G | CA400617745 | SCN4A | c.3686A>C (p.Asn1229Thr)
| |
| 17 | g.63945394T= | CA2270162507 | SCN4A | c.3686A= (p.Asn1229=)
| |
| 17 | g.63945395T>A | CA400617746 | SCN4A | c.3685A>T (p.Asn1229Tyr)
| |
| 17 | g.63945395T>C | CA8709208 | SCN4A | c.3685A>G (p.Asn1229Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945395T>G | CA400617747 | SCN4A | c.3685A>C (p.Asn1229His)
| |
| 17 | g.63945395T= | CA2270162510 | SCN4A | c.3685A= (p.Asn1229=)
| |
| 17 | g.63945396G>A | CA501348612 | SCN4A | c.3684C>T (p.Asp1228=)
| |
| 17 | g.63945396G>C | CA400617748 | SCN4A | c.3684C>G (p.Asp1228Glu)
| |
| 17 | g.63945396G>T | CA400617749 | SCN4A | c.3684C>A (p.Asp1228Glu)
| |
| 17 | g.63945397T>A | CA400617750 | SCN4A | c.3683A>T (p.Asp1228Val)
| |
| 17 | g.63945397T>C | CA400617751 | SCN4A | c.3683A>G (p.Asp1228Gly)
| gnomAD v4 |
| 17 | g.63945397T>G | CA400617752 | SCN4A | c.3683A>C (p.Asp1228Ala)
| |
| 17 | g.63945398C>A | CA400617754 | SCN4A | c.3682G>T (p.Asp1228Tyr)
| |
| 17 | g.63945398C= | CA2270162513 | SCN4A | c.3682G= (p.Asp1228=)
| |
| 17 | g.63945398C>G | CA400617753 | SCN4A | c.3682G>C (p.Asp1228His)
| |
| 17 | g.63945398C>T | CA8709209 | SCN4A | c.3682G>A (p.Asp1228Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945399del | CA2639311853 | SCN4A | c.3681del (p.Tyr1227Ter)
| gnomAD v4 |
| 17 | g.63945399G>A | CA8709210 | SCN4A | c.3681C>T (p.Tyr1227=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945399G>C | CA400617755 | SCN4A | c.3681C>G (p.Tyr1227Ter)
| |
| 17 | g.63945399G= | CA2270162520 | SCN4A | c.3681C= (p.Tyr1227=)
| |
| 17 | g.63945399G>T | CA400617756 | SCN4A | c.3681C>A (p.Tyr1227Ter)
| |
| 17 | g.63945400T>A | CA400617757 | SCN4A | c.3680A>T (p.Tyr1227Phe)
| |
| 17 | g.63945400T>C | CA400617758 | SCN4A | c.3680A>G (p.Tyr1227Cys)
| |
| 17 | g.63945400T>G | CA400617759 | SCN4A | c.3680A>C (p.Tyr1227Ser)
| |
| 17 | g.63945401A= | CA2270162525 | SCN4A | c.3679T= (p.Tyr1227=)
| |
| 17 | g.63945401A>C | CA400617762 | SCN4A | c.3679T>G (p.Tyr1227Asp)
| ClinVar |
| 17 | g.63945401A>G | CA400617760 | SCN4A | c.3679T>C (p.Tyr1227His)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.63945401A>T | CA400617761 | SCN4A | c.3679T>A (p.Tyr1227Asn)
| |
| 17 | g.63945402G>A | CA501348617 | SCN4A | c.3678C>T (p.Asn1226=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63945402G>C | CA400617763 | SCN4A | c.3678C>G (p.Asn1226Lys)
| |
| 17 | g.63945402G= | CA2270162529 | SCN4A | c.3678C= (p.Asn1226=)
| |
| 17 | g.63945402G>T | CA400617764 | SCN4A | c.3678C>A (p.Asn1226Lys)
| |
| 17 | g.63945403T>A | CA400617765 | SCN4A | c.3677A>T (p.Asn1226Ile)
| |
| 17 | g.63945403T>C | CA400617766 | SCN4A | c.3677A>G (p.Asn1226Ser)
| gnomAD v4 |
| 17 | g.63945403T>G | CA400617767 | SCN4A | c.3677A>C (p.Asn1226Thr)
| |
| 17 | g.63945404T>A | CA400617770 | SCN4A | c.3676A>T (p.Asn1226Tyr)
| |
| 17 | g.63945404T>C | CA400617768 | SCN4A | c.3676A>G (p.Asn1226Asp)
| |
| 17 | g.63945404T>G | CA400617769 | SCN4A | c.3676A>C (p.Asn1226His)
| |
| 17 | g.63945405G>A | CA501348618 | SCN4A | c.3675C>T (p.Val1225=)
| |
| 17 | g.63945405G>C | CA501348620 | SCN4A | c.3675C>G (p.Val1225=)
| |
| 17 | g.63945405G>T | CA501348619 | SCN4A | c.3675C>A (p.Val1225=)
| gnomAD v4 |
| 17 | g.63945406A>C | CA400617771 | SCN4A | c.3674T>G (p.Val1225Gly)
| gnomAD v4 |
| 17 | g.63945406A>G | CA400617772 | SCN4A | c.3674T>C (p.Val1225Ala)
| |
| 17 | g.63945406A>T | CA400617773 | SCN4A | c.3674T>A (p.Val1225Asp)
| |
| 17 | g.63945407C>A | CA400617774 | SCN4A | c.3673G>T (p.Val1225Phe)
| |
| 17 | g.63945407C>G | CA400617775 | SCN4A | c.3673G>C (p.Val1225Leu)
| |
| 17 | g.63945407C>T | CA400617776 | SCN4A | c.3673G>A (p.Val1225Ile)
| |
| 17 | g.63945408C>A | CA400617777 | SCN4A | c.3672G>T (p.Lys1224Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.63945408C= | CA2270162532 | SCN4A | c.3672G= (p.Lys1224=)
| |
| 17 | g.63945408C>G | CA400617778 | SCN4A | c.3672G>C (p.Lys1224Asn)
| |
| 17 | g.63945408C>T | CA8709211 | SCN4A | c.3672G>A (p.Lys1224=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
