17 | g.63942895G>A | CA501214831 | SCN4A | c.4219C>T (p.Leu1407=)
| |
17 | g.63942895G>C | CA400616462 | SCN4A | c.4219C>G (p.Leu1407Val)
| |
17 | g.63942895G>T | CA400616463 | SCN4A | c.4219C>A (p.Leu1407Met)
| |
17 | g.63942896G>A | CA501214832 | SCN4A | c.4218C>T (p.Ala1406=)
| |
17 | g.63942896G>C | CA8709036 | SCN4A | c.4218C>G (p.Ala1406=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942896G= | CA2270161698 | SCN4A | c.4218C= (p.Ala1406=)
| |
17 | g.63942896G>T | CA501214833 | SCN4A | c.4218C>A (p.Ala1406=)
| |
17 | g.63942897G>A | CA400616465 | SCN4A | c.4217C>T (p.Ala1406Val)
| |
17 | g.63942897G>C | CA400616466 | SCN4A | c.4217C>G (p.Ala1406Gly)
| |
17 | g.63942897G>T | CA400616464 | SCN4A | c.4217C>A (p.Ala1406Asp)
| |
17 | g.63942898C>A | CA400616467 | SCN4A | c.4216G>T (p.Ala1406Ser)
| gnomAD v4 |
17 | g.63942898C= | CA2270161699 | SCN4A | c.4216G= (p.Ala1406=)
| |
17 | g.63942898C>G | CA400616468 | SCN4A | c.4216G>C (p.Ala1406Pro)
| |
17 | g.63942898C>T | CA8709037 | SCN4A | c.4216G>A (p.Ala1406Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942899G>A | CA8709038 | SCN4A | c.4215C>T (p.Leu1405=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942899G>C | CA501214834 | SCN4A | c.4215C>G (p.Leu1405=)
| |
17 | g.63942899G= | CA2270161700 | SCN4A | c.4215C= (p.Leu1405=)
| |
17 | g.63942899G>T | CA501214835 | SCN4A | c.4215C>A (p.Leu1405=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942900A>C | CA400616471 | SCN4A | c.4214T>G (p.Leu1405Arg)
| |
17 | g.63942900A>G | CA400616470 | SCN4A | c.4214T>C (p.Leu1405Pro)
| |
17 | g.63942900A>T | CA400616469 | SCN4A | c.4214T>A (p.Leu1405His)
| |
17 | g.63942901G>A | CA400616472 | SCN4A | c.4213C>T (p.Leu1405Phe)
| |
17 | g.63942901G>C | CA400616473 | SCN4A | c.4213C>G (p.Leu1405Val)
| |
17 | g.63942901G>T | CA400616474 | SCN4A | c.4213C>A (p.Leu1405Ile)
| gnomAD v4 |
17 | g.63942902C>A | CA400616475 | SCN4A | c.4212G>T (p.Met1404Ile)
| |
17 | g.63942902C>G | CA400616476 | SCN4A | c.4212G>C (p.Met1404Ile)
| |
17 | g.63942902C>T | CA400616477 | SCN4A | c.4212G>A (p.Met1404Ile)
| COSMIC |
17 | g.63942903A>C | CA400616480 | SCN4A | c.4211T>G (p.Met1404Arg)
| |
17 | g.63942903A>G | CA400616479 | SCN4A | c.4211T>C (p.Met1404Thr)
| |
17 | g.63942903A>T | CA400616478 | SCN4A | c.4211T>A (p.Met1404Lys)
| |
17 | g.63942904T>A | CA400616481 | SCN4A | c.4210A>T (p.Met1404Leu)
| |
17 | g.63942904T>C | CA8709039 | SCN4A | c.4210A>G (p.Met1404Val)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.63942904T>G | CA400616482 | SCN4A | c.4210A>C (p.Met1404Leu)
| |
17 | g.63942904T= | CA2270161701 | SCN4A | c.4210A= (p.Met1404=)
| |
17 | g.63942905C>A | CA400616483 | SCN4A | c.4209G>T (p.Lys1403Asn)
| |
17 | g.63942905C>G | CA400616484 | SCN4A | c.4209G>C (p.Lys1403Asn)
| ClinVar dbSNP |
17 | g.63942905C>T | CA501214836 | SCN4A | c.4209G>A (p.Lys1403=)
| COSMIC |
17 | g.63942906T>A | CA400616485 | SCN4A | c.4208A>T (p.Lys1403Met)
| dbSNP |
17 | g.63942906T>C | CA400616486 | SCN4A | c.4208A>G (p.Lys1403Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942906T>G | CA400616487 | SCN4A | c.4208A>C (p.Lys1403Thr)
| |
17 | g.63942906T= | CA2270161702 | SCN4A | c.4208A= (p.Lys1403=)
| |
17 | g.63942907T>A | CA400616488 | SCN4A | c.4207A>T (p.Lys1403Ter)
| dbSNP |
17 | g.63942907T>C | CA400616489 | SCN4A | c.4207A>G (p.Lys1403Glu)
| |
17 | g.63942907T>G | CA400616490 | SCN4A | c.4207A>C (p.Lys1403Gln)
| ClinVar dbSNP |
17 | g.63942907T= | CA2270161703 | SCN4A | c.4207A= (p.Lys1403=)
| |
17 | g.63942908G>A | CA501214837 | SCN4A | c.4206C>T (p.Leu1402=)
| |
17 | g.63942908G>C | CA501214838 | SCN4A | c.4206C>G (p.Leu1402=)
| dbSNP gnomAD v4 |
17 | g.63942908G= | CA2270161704 | SCN4A | c.4206C= (p.Leu1402=)
| |
17 | g.63942908G>T | CA501214839 | SCN4A | c.4206C>A (p.Leu1402=)
| |
17 | g.63942909A>C | CA400616491 | SCN4A | c.4205T>G (p.Leu1402Arg)
| |
17 | g.63942909A>G | CA400616492 | SCN4A | c.4205T>C (p.Leu1402Pro)
| |
17 | g.63942909A>T | CA400616493 | SCN4A | c.4205T>A (p.Leu1402His)
| |
17 | g.63942910G>A | CA400616494 | SCN4A | c.4204C>T (p.Leu1402Phe)
| ClinVar |
17 | g.63942910G>C | CA400616495 | SCN4A | c.4204C>G (p.Leu1402Val)
| |
17 | g.63942910G>T | CA400616496 | SCN4A | c.4204C>A (p.Leu1402Ile)
| |
17 | g.63942911C>A | CA501214840 | SCN4A | c.4203G>T (p.Val1401=)
| |
17 | g.63942911C>G | CA501214841 | SCN4A | c.4203G>C (p.Val1401=)
| |
17 | g.63942911C>T | CA501214842 | SCN4A | c.4203G>A (p.Val1401=)
| gnomAD v4 |
17 | g.63942912A>C | CA400616499 | SCN4A | c.4202T>G (p.Val1401Gly)
| |
17 | g.63942912A>G | CA400616497 | SCN4A | c.4202T>C (p.Val1401Ala)
| |
17 | g.63942912A>T | CA400616498 | SCN4A | c.4202T>A (p.Val1401Glu)
| |
17 | g.63942913C>A | CA400616500 | SCN4A | c.4201G>T (p.Val1401Leu)
| |
17 | g.63942913C= | CA2270161705 | SCN4A | c.4201G= (p.Val1401=)
| |
17 | g.63942913C>G | CA400616501 | SCN4A | c.4201G>C (p.Val1401Leu)
| |
17 | g.63942913C>T | CA8709040 | SCN4A | c.4201G>A (p.Val1401Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63942914G>A | CA8709041 | SCN4A | c.4200C>T (p.Cys1400=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63942914G>C | CA400616502 | SCN4A | c.4200C>G (p.Cys1400Trp)
| |
17 | g.63942914G= | CA2270161706 | SCN4A | c.4200C= (p.Cys1400=)
| |
17 | g.63942914G>T | CA400616503 | SCN4A | c.4200C>A (p.Cys1400Ter)
| dbSNP |
17 | g.63942915C>A | CA400616504 | SCN4A | c.4199G>T (p.Cys1400Phe)
| gnomAD v4 |
17 | g.63942915C>G | CA400616505 | SCN4A | c.4199G>C (p.Cys1400Ser)
| |
17 | g.63942915C>T | CA400616506 | SCN4A | c.4199G>A (p.Cys1400Tyr)
| |
17 | g.63942916A>C | CA400616507 | SCN4A | c.4198T>G (p.Cys1400Gly)
| |
17 | g.63942916A>G | CA400616508 | SCN4A | c.4198T>C (p.Cys1400Arg)
| gnomAD v4 |
17 | g.63942916A>T | CA400616509 | SCN4A | c.4198T>A (p.Cys1400Ser)
| ClinVar dbSNP |
17 | g.63942917C>A | CA400616510 | SCN4A | c.4197G>T (p.Glu1399Asp)
| |
17 | g.63942917C>G | CA400616511 | SCN4A | c.4197G>C (p.Glu1399Asp)
| |
17 | g.63942917C>T | CA501214843 | SCN4A | c.4197G>A (p.Glu1399=)
| |
17 | g.63942918T>A | CA400616512 | SCN4A | c.4196A>T (p.Glu1399Val)
| |
17 | g.63942918T>C | CA400616513 | SCN4A | c.4196A>G (p.Glu1399Gly)
| |
17 | g.63942918T>G | CA400616514 | SCN4A | c.4196A>C (p.Glu1399Ala)
| |
17 | g.63942919C>A | CA400616515 | SCN4A | c.4195G>T (p.Glu1399Ter)
| dbSNP |
17 | g.63942919C= | CA2270161707 | SCN4A | c.4195G= (p.Glu1399=)
| |
17 | g.63942919C>G | CA400616516 | SCN4A | c.4195G>C (p.Glu1399Gln)
| |
17 | g.63942919C>T | CA400616517 | SCN4A | c.4195G>A (p.Glu1399Lys)
| |
17 | g.63942920C>A | CA501214846 | SCN4A | c.4194G>T (p.Gly1398=)
| |
17 | g.63942920C>G | CA501214845 | SCN4A | c.4194G>C (p.Gly1398=)
| |
17 | g.63942920C>T | CA501214844 | SCN4A | c.4194G>A (p.Gly1398=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63942921C>A | CA400616518 | SCN4A | c.4193G>T (p.Gly1398Val)
| |
17 | g.63942921C>G | CA400616519 | SCN4A | c.4193G>C (p.Gly1398Ala)
| |
17 | g.63942921C>T | CA400616520 | SCN4A | c.4193G>A (p.Gly1398Glu)
| COSMIC |
17 | g.63942922C>A | CA400616521 | SCN4A | c.4192G>T (p.Gly1398Trp)
| gnomAD v4 |
17 | g.63942922C>G | CA400616522 | SCN4A | c.4192G>C (p.Gly1398Arg)
| |
17 | g.63942922C>T | CA400616523 | SCN4A | c.4192G>A (p.Gly1398Arg)
| COSMIC |
17 | g.63942923T>A | CA501214847 | SCN4A | c.4191A>T (p.Thr1397=)
| |
17 | g.63942923T>C | CA501214848 | SCN4A | c.4191A>G (p.Thr1397=)
| |
17 | g.63942923T>G | CA501214849 | SCN4A | c.4191A>C (p.Thr1397=)
| |
17 | g.63942924G>A | CA400616526 | SCN4A | c.4190C>T (p.Thr1397Ile)
| gnomAD v4 |
17 | g.63942924G>C | CA400616524 | SCN4A | c.4190C>G (p.Thr1397Arg)
| |
17 | g.63942924G>T | CA400616525 | SCN4A | c.4190C>A (p.Thr1397Lys)
| |
17 | g.63942925T>A | CA400616527 | SCN4A | c.4189A>T (p.Thr1397Ser)
| |
17 | g.63942925T>C | CA400616528 | SCN4A | c.4189A>G (p.Thr1397Ala)
| |
17 | g.63942925T>G | CA400616529 | SCN4A | c.4189A>C (p.Thr1397Pro)
| |
17 | g.63942926G>A | CA501214850 | SCN4A | c.4188C>T (p.Phe1396=)
| |
17 | g.63942926G>C | CA400616530 | SCN4A | c.4188C>G (p.Phe1396Leu)
| |
17 | g.63942926G>T | CA400616531 | SCN4A | c.4188C>A (p.Phe1396Leu)
| |
17 | g.63942927A>C | CA400616532 | SCN4A | c.4187T>G (p.Phe1396Cys)
| |
17 | g.63942927A>G | CA400616533 | SCN4A | c.4187T>C (p.Phe1396Ser)
| |
17 | g.63942927A>T | CA400616534 | SCN4A | c.4187T>A (p.Phe1396Tyr)
| |
17 | g.63942928A>C | CA400616535 | SCN4A | c.4186T>G (p.Phe1396Val)
| |
17 | g.63942928A>G | CA400616536 | SCN4A | c.4186T>C (p.Phe1396Leu)
| |
17 | g.63942928A>T | CA400616537 | SCN4A | c.4186T>A (p.Phe1396Ile)
| |
17 | g.63942929G>A | CA501214851 | SCN4A | c.4185C>T (p.Ile1395=)
| COSMIC |
17 | g.63942929G>C | CA400616538 | SCN4A | c.4185C>G (p.Ile1395Met)
| |
17 | g.63942929G>T | CA501214852 | SCN4A | c.4185C>A (p.Ile1395=)
| |
17 | g.63942937_63942939del | CA2639308428 | SCN4A | c.4183_4185del (p.Ile1395del)
| gnomAD v4 |
17 | g.63942930A>C | CA400616541 | SCN4A | c.4184T>G (p.Ile1395Ser)
| |
17 | g.63942930A>G | CA400616540 | SCN4A | c.4184T>C (p.Ile1395Thr)
| |
17 | g.63942930A>T | CA400616539 | SCN4A | c.4184T>A (p.Ile1395Asn)
| |
17 | g.63942931T>A | CA400616543 | SCN4A | c.4183A>T (p.Ile1395Phe)
| gnomAD v4 |
17 | g.63942931T>C | CA400616542 | SCN4A | c.4183A>G (p.Ile1395Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.63942931T>G | CA400616544 | SCN4A | c.4183A>C (p.Ile1395Leu)
| |
17 | g.63942931T= | CA2270161708 | SCN4A | c.4183A= (p.Ile1395=)
| |
17 | g.63942932G>A | CA501214853 | SCN4A | c.4182C>T (p.Ile1394=)
| |
17 | g.63942932G>C | CA400616545 | SCN4A | c.4182C>G (p.Ile1394Met)
| |
17 | g.63942932G>T | CA501214854 | SCN4A | c.4182C>A (p.Ile1394=)
| |
17 | g.63942933A= | CA2270161709 | SCN4A | c.4181T= (p.Ile1394=)
| |
17 | g.63942933A>C | CA400616546 | SCN4A | c.4181T>G (p.Ile1394Ser)
| |
17 | g.63942933A>G | CA400616547 | SCN4A | c.4181T>C (p.Ile1394Thr)
| |
17 | g.63942933A>T | CA8709042 | SCN4A | c.4181T>A (p.Ile1394Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942934T>A | CA400616548 | SCN4A | c.4180A>T (p.Ile1394Phe)
| |
17 | g.63942934T>C | CA292958193 | SCN4A | c.4180A>G (p.Ile1394Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942934T>G | CA400616549 | SCN4A | c.4180A>C (p.Ile1394Leu)
| |
17 | g.63942934T= | CA2270161710 | SCN4A | c.4180A= (p.Ile1394=)
| |
17 | g.63942935G>A | CA501214855 | SCN4A | c.4179C>T (p.Ile1393=)
| gnomAD v4 |
17 | g.63942935G>C | CA400616550 | SCN4A | c.4179C>G (p.Ile1393Met)
| |
17 | g.63942935G>T | CA501214856 | SCN4A | c.4179C>A (p.Ile1393=)
| |
17 | g.63942935_63942936insGG | CA16620555 | SCN4A | c.4179_4180insCC (p.Ile1394ProfsTer?)
| ClinVar dbSNP |
17 | g.63942936A>C | CA400616551 | SCN4A | c.4178T>G (p.Ile1393Ser)
| |
17 | g.63942936A>G | CA400616552 | SCN4A | c.4178T>C (p.Ile1393Thr)
| |
17 | g.63942936A>T | CA400616553 | SCN4A | c.4178T>A (p.Ile1393Asn)
| gnomAD v4 |
17 | g.63942937T>A | CA400616556 | SCN4A | c.4177A>T (p.Ile1393Phe)
| |
17 | g.63942937T>C | CA400616555 | SCN4A | c.4177A>G (p.Ile1393Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942937T>G | CA400616554 | SCN4A | c.4177A>C (p.Ile1393Leu)
| dbSNP gnomAD v4 |
17 | g.63942937T= | CA2270161711 | SCN4A | c.4177A= (p.Ile1393=)
| |
17 | g.63942938G>A | CA501214857 | SCN4A | c.4176C>T (p.Phe1392=)
| |
17 | g.63942938G>C | CA400616557 | SCN4A | c.4176C>G (p.Phe1392Leu)
| |
17 | g.63942938G>T | CA400616558 | SCN4A | c.4176C>A (p.Phe1392Leu)
| |
17 | g.63942939A= | CA2270161712 | SCN4A | c.4175T= (p.Phe1392=)
| |
17 | g.63942939A>C | CA400616559 | SCN4A | c.4175T>G (p.Phe1392Cys)
| |
17 | g.63942939A>G | CA400616560 | SCN4A | c.4175T>C (p.Phe1392Ser)
| ClinVar dbSNP |
17 | g.63942939A>T | CA400616561 | SCN4A | c.4175T>A (p.Phe1392Tyr)
| |
17 | g.63942940A>C | CA400616562 | SCN4A | c.4174T>G (p.Phe1392Val)
| |
17 | g.63942940A>G | CA400616563 | SCN4A | c.4174T>C (p.Phe1392Leu)
| gnomAD v4 |
17 | g.63942940A>T | CA400616564 | SCN4A | c.4174T>A (p.Phe1392Ile)
| |
17 | g.63942941G>A | CA501214859 | SCN4A | c.4173C>T (p.Ile1391=)
| |
17 | g.63942941G>C | CA400616565 | SCN4A | c.4173C>G (p.Ile1391Met)
| COSMIC |
17 | g.63942941G>T | CA501214860 | SCN4A | c.4173C>A (p.Ile1391=)
| |
17 | g.63942942A= | CA2270161713 | SCN4A | c.4172T= (p.Ile1391=)
| |
17 | g.63942942A>C | CA400616566 | SCN4A | c.4172T>G (p.Ile1391Ser)
| |
17 | g.63942942A>G | CA400616567 | SCN4A | c.4172T>C (p.Ile1391Thr)
| gnomAD v4 |
17 | g.63942942A>T | CA400616568 | SCN4A | c.4172T>A (p.Ile1391Asn)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942943T>A | CA400616570 | SCN4A | c.4171A>T (p.Ile1391Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942943T>C | CA292958196 | SCN4A | c.4171A>G (p.Ile1391Val)
| ClinVar dbSNP |
17 | g.63942943T>G | CA400616569 | SCN4A | c.4171A>C (p.Ile1391Leu)
| |
17 | g.63942943T= | CA2270161714 | SCN4A | c.4171A= (p.Ile1391=)
| |
17 | g.63942944C>A | CA400616571 | SCN4A | c.4170G>T (p.Met1390Ile)
| |
17 | g.63942944C>G | CA400616572 | SCN4A | c.4170G>C (p.Met1390Ile)
| |
17 | g.63942944C>T | CA400616573 | SCN4A | c.4170G>A (p.Met1390Ile)
| gnomAD v4 |
17 | g.63942945A>C | CA400616574 | SCN4A | c.4169T>G (p.Met1390Arg)
| ClinVar |
17 | g.63942945A>G | CA400616575 | SCN4A | c.4169T>C (p.Met1390Thr)
| |
17 | g.63942945A>T | CA400616576 | SCN4A | c.4169T>A (p.Met1390Lys)
| |
17 | g.63942946T>A | CA8709043 | SCN4A | c.4168A>T (p.Met1390Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942946T>C | CA400616577 | SCN4A | c.4168A>G (p.Met1390Val)
| ClinVar dbSNP |
17 | g.63942946T>G | CA400616578 | SCN4A | c.4168A>C (p.Met1390Leu)
| ClinVar |
17 | g.63942946T= | CA2270161715 | SCN4A | c.4168A= (p.Met1390=)
| |
17 | g.63942947G>A | CA501214861 | SCN4A | c.4167C>T (p.Asn1389=)
| ClinVar dbSNP |
17 | g.63942947G>C | CA400616579 | SCN4A | c.4167C>G (p.Asn1389Lys)
| |
17 | g.63942947G= | CA2270161716 | SCN4A | c.4167C= (p.Asn1389=)
| |
17 | g.63942947G>T | CA400616580 | SCN4A | c.4167C>A (p.Asn1389Lys)
| ClinVar dbSNP |
17 | g.63942948T>A | CA400616581 | SCN4A | c.4166A>T (p.Asn1389Ile)
| |
17 | g.63942948T>C | CA400616582 | SCN4A | c.4166A>G (p.Asn1389Ser)
| gnomAD v4 |
17 | g.63942948T>G | CA400616583 | SCN4A | c.4166A>C (p.Asn1389Thr)
| |
17 | g.63942949T>A | CA400616584 | SCN4A | c.4165A>T (p.Asn1389Tyr)
| |
17 | g.63942949T>C | CA400616586 | SCN4A | c.4165A>G (p.Asn1389Asp)
| |
17 | g.63942949T>G | CA400616585 | SCN4A | c.4165A>C (p.Asn1389His)
| gnomAD v4 |
17 | g.63942950G>A | CA501214862 | SCN4A | c.4164C>T (p.Ile1388=)
| |
17 | g.63942950G>C | CA400616587 | SCN4A | c.4164C>G (p.Ile1388Met)
| dbSNP |
17 | g.63942950G= | CA2270161717 | SCN4A | c.4164C= (p.Ile1388=)
| |
17 | g.63942950G>T | CA501214863 | SCN4A | c.4164C>A (p.Ile1388=)
| |
17 | g.63942951A>C | CA400616588 | SCN4A | c.4163T>G (p.Ile1388Ser)
| |
17 | g.63942951A>G | CA400616589 | SCN4A | c.4163T>C (p.Ile1388Thr)
| |
17 | g.63942951A>T | CA400616590 | SCN4A | c.4163T>A (p.Ile1388Asn)
| |
17 | g.63942952T>A | CA400616591 | SCN4A | c.4162A>T (p.Ile1388Phe)
| gnomAD v4 |
17 | g.63942952T>C | CA400616592 | SCN4A | c.4162A>G (p.Ile1388Val)
| gnomAD v4 |
17 | g.63942952T>G | CA400616593 | SCN4A | c.4162A>C (p.Ile1388Leu)
| |
17 | g.63942955_63942957del | CA2639308458 | SCN4A | c.4160_4162del (p.Asn1387del)
| gnomAD v4 |
17 | g.63942953G>A | CA501214864 | SCN4A | c.4161C>T (p.Asn1387=)
| |
17 | g.63942953G>C | CA400616594 | SCN4A | c.4161C>G (p.Asn1387Lys)
| |
17 | g.63942953G>T | CA400616595 | SCN4A | c.4161C>A (p.Asn1387Lys)
| |
17 | g.63942954T>A | CA400616596 | SCN4A | c.4160A>T (p.Asn1387Ile)
| |
17 | g.63942954T>C | CA400616597 | SCN4A | c.4160A>G (p.Asn1387Ser)
| gnomAD v4 |
17 | g.63942954T>G | CA400616598 | SCN4A | c.4160A>C (p.Asn1387Thr)
| |
17 | g.63942955T>A | CA400616600 | SCN4A | c.4159A>T (p.Asn1387Tyr)
| |
17 | g.63942955T>C | CA400616601 | SCN4A | c.4159A>G (p.Asn1387Asp)
| |
17 | g.63942955T>G | CA400616599 | SCN4A | c.4159A>C (p.Asn1387His)
| |
17 | g.63942956G>A | CA501214868 | SCN4A | c.4158C>T (p.Tyr1386=)
| |
17 | g.63942956G>C | CA400616602 | SCN4A | c.4158C>G (p.Tyr1386Ter)
| |
17 | g.63942956G>T | CA400616603 | SCN4A | c.4158C>A (p.Tyr1386Ter)
| |
17 | g.63942957T>A | CA400616604 | SCN4A | c.4157A>T (p.Tyr1386Phe)
| |
17 | g.63942957T>C | CA400616606 | SCN4A | c.4157A>G (p.Tyr1386Cys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942957T>G | CA400616605 | SCN4A | c.4157A>C (p.Tyr1386Ser)
| |
17 | g.63942957T= | CA2270161718 | SCN4A | c.4157A= (p.Tyr1386=)
| |
17 | g.63942958A>C | CA400616607 | SCN4A | c.4156T>G (p.Tyr1386Asp)
| |
17 | g.63942958A>G | CA400616608 | SCN4A | c.4156T>C (p.Tyr1386His)
| |
17 | g.63942958A>T | CA400616609 | SCN4A | c.4156T>A (p.Tyr1386Asn)
| |
17 | g.63942959C>A | CA501214872 | SCN4A | c.4155G>T (p.Leu1385=)
| |
17 | g.63942959C= | CA2270161719 | SCN4A | c.4155G= (p.Leu1385=)
| |
17 | g.63942959C>G | CA501214873 | SCN4A | c.4155G>C (p.Leu1385=)
| |
17 | g.63942959C>T | CA8709044 | SCN4A | c.4155G>A (p.Leu1385=)
| dbSNP ExAC gnomAD v4 |
17 | g.63942960A= | CA2270161720 | SCN4A | c.4154T= (p.Leu1385=)
| |
17 | g.63942960A>C | CA400616610 | SCN4A | c.4154T>G (p.Leu1385Arg)
| |
17 | g.63942960A>G | CA400616611 | SCN4A | c.4154T>C (p.Leu1385Pro)
| dbSNP |
17 | g.63942960A>T | CA400616612 | SCN4A | c.4154T>A (p.Leu1385Gln)
| |
17 | g.63942961G>A | CA501214874 | SCN4A | c.4153C>T (p.Leu1385=)
| |
17 | g.63942961G>C | CA400616613 | SCN4A | c.4153C>G (p.Leu1385Val)
| |
17 | g.63942961G>T | CA400616614 | SCN4A | c.4153C>A (p.Leu1385Met)
| |
17 | g.63942962G>A | CA501214875 | SCN4A | c.4152C>T (p.Ile1384=)
| |
17 | g.63942962G>C | CA400616615 | SCN4A | c.4152C>G (p.Ile1384Met)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942962G= | CA2270161721 | SCN4A | c.4152C= (p.Ile1384=)
| |
17 | g.63942962G>T | CA501214876 | SCN4A | c.4152C>A (p.Ile1384=)
| |
17 | g.63942963A= | CA2270161722 | SCN4A | c.4151T= (p.Ile1384=)
| |
17 | g.63942963A>C | CA400616617 | SCN4A | c.4151T>G (p.Ile1384Ser)
| |
17 | g.63942963A>G | CA8709045 | SCN4A | c.4151T>C (p.Ile1384Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942963A>T | CA400616616 | SCN4A | c.4151T>A (p.Ile1384Asn)
| |
17 | g.63942964T>A | CA400616618 | SCN4A | c.4150A>T (p.Ile1384Phe)
| |
17 | g.63942964T>C | CA400616619 | SCN4A | c.4150A>G (p.Ile1384Val)
| |
17 | g.63942964T>G | CA400616620 | SCN4A | c.4150A>C (p.Ile1384Leu)
| |
17 | g.63942965G>A | CA501214877 | SCN4A | c.4149C>T (p.Asp1383=)
| ClinVar |
17 | g.63942965G>C | CA400616621 | SCN4A | c.4149C>G (p.Asp1383Glu)
| |
17 | g.63942965G>T | CA400616622 | SCN4A | c.4149C>A (p.Asp1383Glu)
| |
17 | g.63942966T>A | CA400616623 | SCN4A | c.4148A>T (p.Asp1383Val)
| |
17 | g.63942966T>C | CA400616624 | SCN4A | c.4148A>G (p.Asp1383Gly)
| |
17 | g.63942966T>G | CA400616625 | SCN4A | c.4148A>C (p.Asp1383Ala)
| |
17 | g.63942967C>A | CA400616626 | SCN4A | c.4147G>T (p.Asp1383Tyr)
| |
17 | g.63942967C>G | CA400616627 | SCN4A | c.4147G>C (p.Asp1383His)
| |
17 | g.63942967C>T | CA400616628 | SCN4A | c.4147G>A (p.Asp1383Asn)
| |
17 | g.63942968C>A | CA501214880 | SCN4A | c.4146G>T (p.Val1382=)
| |
17 | g.63942968C>G | CA501214879 | SCN4A | c.4146G>C (p.Val1382=)
| |
17 | g.63942968C>T | CA501214878 | SCN4A | c.4146G>A (p.Val1382=)
| COSMIC |
17 | g.63942969A>C | CA400616631 | SCN4A | c.4145T>G (p.Val1382Gly)
| |
17 | g.63942969A>G | CA400616630 | SCN4A | c.4145T>C (p.Val1382Ala)
| gnomAD v4 |
17 | g.63942969A>T | CA400616629 | SCN4A | c.4145T>A (p.Val1382Glu)
| |
17 | g.63942969dup | CA2566645399 | SCN4A | c.4145dup (p.Asp1383GlyfsTer?)
| |
17 | g.63942970C>A | CA400616632 | SCN4A | c.4144G>T (p.Val1382Leu)
| |
17 | g.63942970C= | CA2270161723 | SCN4A | c.4144G= (p.Val1382=)
| |
17 | g.63942970C>G | CA400616633 | SCN4A | c.4144G>C (p.Val1382Leu)
| |
17 | g.63942970C>T | CA400616634 | SCN4A | c.4144G>A (p.Val1382Met)
| dbSNP gnomAD v4 |
17 | g.63942971C>A | CA400616635 | SCN4A | c.4143G>T (p.Lys1381Asn)
| |
17 | g.63942971C>G | CA400616636 | SCN4A | c.4143G>C (p.Lys1381Asn)
| |
17 | g.63942971C>T | CA501214881 | SCN4A | c.4143G>A (p.Lys1381=)
| |
17 | g.63942972T>A | CA400616637 | SCN4A | c.4142A>T (p.Lys1381Met)
| |
17 | g.63942972T>C | CA400616638 | SCN4A | c.4142A>G (p.Lys1381Arg)
| |
17 | g.63942972T>G | CA400616639 | SCN4A | c.4142A>C (p.Lys1381Thr)
| |
17 | g.63942972_63942973insGTTT | CA2810127093 | SCN4A | c.4142_4143insAACA (p.Val1382ThrfsTer?)
| |
17 | g.63942973T>A | CA400616640 | SCN4A | c.4141A>T (p.Lys1381Ter)
| dbSNP |
17 | g.63942973T>C | CA400616641 | SCN4A | c.4141A>G (p.Lys1381Glu)
| |
17 | g.63942973T>G | CA400616642 | SCN4A | c.4141A>C (p.Lys1381Gln)
| gnomAD v4 |
17 | g.63942973T= | CA2270161724 | SCN4A | c.4141A= (p.Lys1381=)
| |
17 | g.63942974G>A | CA501214882 | SCN4A | c.4140C>T (p.Leu1380=)
| dbSNP |
17 | g.63942974G>C | CA501214883 | SCN4A | c.4140C>G (p.Leu1380=)
| gnomAD v4 |
17 | g.63942974G= | CA2270161725 | SCN4A | c.4140C= (p.Leu1380=)
| |
17 | g.63942974G>T | CA501214884 | SCN4A | c.4140C>A (p.Leu1380=)
| |
17 | g.63942975A>C | CA400616645 | SCN4A | c.4139T>G (p.Leu1380Arg)
| |
17 | g.63942975A>G | CA400616644 | SCN4A | c.4139T>C (p.Leu1380Pro)
| |
17 | g.63942975A>T | CA400616643 | SCN4A | c.4139T>A (p.Leu1380His)
| |
17 | g.63942976G>A | CA400616646 | SCN4A | c.4138C>T (p.Leu1380Phe)
| |
17 | g.63942976G>C | CA400616647 | SCN4A | c.4138C>G (p.Leu1380Val)
| |
17 | g.63942976G>T | CA400616648 | SCN4A | c.4138C>A (p.Leu1380Ile)
| |
17 | g.63942977C>A | CA400616649 | SCN4A | c.4137G>T (p.Gln1379His)
| |
17 | g.63942977C= | CA2270161726 | SCN4A | c.4137G= (p.Gln1379=)
| |
17 | g.63942977C>G | CA8709046 | SCN4A | c.4137G>C (p.Gln1379His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942977C>T | CA501214885 | SCN4A | c.4137G>A (p.Gln1379=)
| COSMIC |
17 | g.63942978T>A | CA400616650 | SCN4A | c.4136A>T (p.Gln1379Leu)
| |
17 | g.63942978T>C | CA400616651 | SCN4A | c.4136A>G (p.Gln1379Arg)
| |
17 | g.63942978T>G | CA400616652 | SCN4A | c.4136A>C (p.Gln1379Pro)
| gnomAD v4 |
17 | g.63942979G>A | CA400616653 | SCN4A | c.4135C>T (p.Gln1379Ter)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942979G>C | CA400616654 | SCN4A | c.4135C>G (p.Gln1379Glu)
| |
17 | g.63942979G= | CA2270161727 | SCN4A | c.4135C= (p.Gln1379=)
| |
17 | g.63942979G>T | CA400616655 | SCN4A | c.4135C>A (p.Gln1379Lys)
| gnomAD v4 |
17 | g.63942980G>A | CA501214886 | SCN4A | c.4134C>T (p.Ser1378=)
| |
17 | g.63942980G>C | CA400616656 | SCN4A | c.4134C>G (p.Ser1378Arg)
| |
17 | g.63942980G>T | CA400616657 | SCN4A | c.4134C>A (p.Ser1378Arg)
| |
17 | g.63942981C>A | CA400616659 | SCN4A | c.4133G>T (p.Ser1378Ile)
| |
17 | g.63942981C>G | CA400616661 | SCN4A | c.4133G>C (p.Ser1378Thr)
| |
17 | g.63942981C>T | CA400616658 | SCN4A | c.4133G>A (p.Ser1378Asn)
| |
17 | g.63942982T>A | CA400616664 | SCN4A | c.4132A>T (p.Ser1378Cys)
| |
17 | g.63942982T>C | CA400616662 | SCN4A | c.4132A>G (p.Ser1378Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942982T>G | CA400616663 | SCN4A | c.4132A>C (p.Ser1378Arg)
| |
17 | g.63942982T= | CA2270161728 | SCN4A | c.4132A= (p.Ser1378=)
| |
17 | g.63942983C>A | CA400616665 | SCN4A | c.4131G>T (p.Gln1377His)
| |
17 | g.63942983C>G | CA400616666 | SCN4A | c.4131G>C (p.Gln1377His)
| |
17 | g.63942983C>T | CA501214887 | SCN4A | c.4131G>A (p.Gln1377=)
| |
17 | g.63942984T>A | CA400616667 | SCN4A | c.4130A>T (p.Gln1377Leu)
| |
17 | g.63942984T>C | CA400616668 | SCN4A | c.4130A>G (p.Gln1377Arg)
| |
17 | g.63942984T>G | CA400616669 | SCN4A | c.4130A>C (p.Gln1377Pro)
| |
17 | g.63942985G>A | CA400616670 | SCN4A | c.4129C>T (p.Gln1377Ter)
| gnomAD v4 |
17 | g.63942985G>C | CA400616671 | SCN4A | c.4129C>G (p.Gln1377Glu)
| |
17 | g.63942985G= | CA2270161729 | SCN4A | c.4129C= (p.Gln1377=)
| |
17 | g.63942985G>T | CA400616672 | SCN4A | c.4129C>A (p.Gln1377Lys)
| dbSNP gnomAD v2 |
17 | g.63942986G>A | CA501214888 | SCN4A | c.4128C>T (p.Asn1376=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63942986G>C | CA400616673 | SCN4A | c.4128C>G (p.Asn1376Lys)
| |
17 | g.63942986G= | CA2270161730 | SCN4A | c.4128C= (p.Asn1376=)
| |
17 | g.63942986G>T | CA400616674 | SCN4A | c.4128C>A (p.Asn1376Lys)
| ClinVar gnomAD v4 |
17 | g.63942987T>A | CA8709047 | SCN4A | c.4127A>T (p.Asn1376Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942987T>C | CA292958237 | SCN4A | c.4127A>G (p.Asn1376Ser)
| dbSNP gnomAD v4 |
17 | g.63942987T>G | CA400616675 | SCN4A | c.4127A>C (p.Asn1376Thr)
| ClinVar gnomAD v4 |
17 | g.63942987T= | CA2270161731 | SCN4A | c.4127A= (p.Asn1376=)
| |
17 | g.63942988T>A | CA400616676 | SCN4A | c.4126A>T (p.Asn1376Tyr)
| dbSNP gnomAD v4 |
17 | g.63942988T>C | CA155081 | SCN4A | c.4126A>G (p.Asn1376Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942988T>G | CA400616677 | SCN4A | c.4126A>C (p.Asn1376His)
| |
17 | g.63942988T= | CA2270161732 | SCN4A | c.4126A= (p.Asn1376=)
| |
17 | g.63942988_63942989delinsCA | CA2573154596 | SCN4A | c.4125_4126delinsTG (p.Asn1376Asp)
| ClinVar |
17 | g.63942989G>A | CA8709048 | SCN4A | c.4125C>T (p.Asp1375=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942989G>C | CA400616678 | SCN4A | c.4125C>G (p.Asp1375Glu)
| gnomAD v4 |
17 | g.63942989G= | CA2270161733 | SCN4A | c.4125C= (p.Asp1375=)
| |
17 | g.63942989G>T | CA400616679 | SCN4A | c.4125C>A (p.Asp1375Glu)
| |
17 | g.63942990T>A | CA400616680 | SCN4A | c.4124A>T (p.Asp1375Val)
| |
17 | g.63942990T>C | CA400616681 | SCN4A | c.4124A>G (p.Asp1375Gly)
| |
17 | g.63942990T>G | CA400616682 | SCN4A | c.4124A>C (p.Asp1375Ala)
| |
17 | g.63942991C>A | CA400616683 | SCN4A | c.4123G>T (p.Asp1375Tyr)
| |
17 | g.63942991C>G | CA400616684 | SCN4A | c.4123G>C (p.Asp1375His)
| |
17 | g.63942991C>T | CA400616685 | SCN4A | c.4123G>A (p.Asp1375Asn)
| gnomAD v4 |
17 | g.63942992T>A | CA501214891 | SCN4A | c.4122A>T (p.Thr1374=)
| |
17 | g.63942992T>C | CA501214890 | SCN4A | c.4122A>G (p.Thr1374=)
| |
17 | g.63942992T>G | CA501214889 | SCN4A | c.4122A>C (p.Thr1374=)
| |
17 | g.63942993G>A | CA400616687 | SCN4A | c.4121C>T (p.Thr1374Ile)
| |
17 | g.63942993G>C | CA400616688 | SCN4A | c.4121C>G (p.Thr1374Arg)
| |
17 | g.63942993G>T | CA400616686 | SCN4A | c.4121C>A (p.Thr1374Lys)
| |
17 | g.63942994T>A | CA400616689 | SCN4A | c.4120A>T (p.Thr1374Ser)
| |
17 | g.63942994T>C | CA400616690 | SCN4A | c.4120A>G (p.Thr1374Ala)
| |
17 | g.63942994T>G | CA400616691 | SCN4A | c.4120A>C (p.Thr1374Pro)
| |
17 | g.63942995C>A | CA400616692 | SCN4A | c.4119G>T (p.Glu1373Asp)
| |
17 | g.63942995C>G | CA400616693 | SCN4A | c.4119G>C (p.Glu1373Asp)
| |
17 | g.63942995C>T | CA501214892 | SCN4A | c.4119G>A (p.Glu1373=)
| |