17 | g.63941558_63941581del | CA2639323970 | SCN4A | c.4705_4728del (p.Gly1569_Cys1576del)
| gnomAD v4 |
17 | g.63941572del | CA501348139 | SCN4A | c.4713del (p.Ser1572ProfsTer?)
| |
17 | g.63941572G>A | CA501348143 | SCN4A | c.4710C>T (p.Asn1570=)
| |
17 | g.63941572G>C | CA400615304 | SCN4A | c.4710C>G (p.Asn1570Lys)
| |
17 | g.63941572G= | CA2270160998 | SCN4A | c.4710C= (p.Asn1570=)
| |
17 | g.63941572G>T | CA400615307 | SCN4A | c.4710C>A (p.Asn1570Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941573T>A | CA400615310 | SCN4A | c.4709A>T (p.Asn1570Ile)
| |
17 | g.63941573T>C | CA8708911 | SCN4A | c.4709A>G (p.Asn1570Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941573T>G | CA400615311 | SCN4A | c.4709A>C (p.Asn1570Thr)
| |
17 | g.63941573T= | CA2270160999 | SCN4A | c.4709A= (p.Asn1570=)
| |
17 | g.63941574T>A | CA400615316 | SCN4A | c.4708A>T (p.Asn1570Tyr)
| |
17 | g.63941574T>C | CA400615317 | SCN4A | c.4708A>G (p.Asn1570Asp)
| |
17 | g.63941574T>G | CA400615319 | SCN4A | c.4708A>C (p.Asn1570His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941574T= | CA2270161000 | SCN4A | c.4708A= (p.Asn1570=)
| |
17 | g.63941575G>A | CA501348146 | SCN4A | c.4707C>T (p.Gly1569=)
| |
17 | g.63941575G>C | CA501348144 | SCN4A | c.4707C>G (p.Gly1569=)
| |
17 | g.63941575G>T | CA501348145 | SCN4A | c.4707C>A (p.Gly1569=)
| |
17 | g.63941576C>A | CA8708912 | SCN4A | c.4706G>T (p.Gly1569Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941576C= | CA2270161001 | SCN4A | c.4706G= (p.Gly1569=)
| |
17 | g.63941576C>G | CA400615322 | SCN4A | c.4706G>C (p.Gly1569Ala)
| |
17 | g.63941576C>T | CA400615325 | SCN4A | c.4706G>A (p.Gly1569Asp)
| |
17 | g.63941577C>A | CA400615332 | SCN4A | c.4705G>T (p.Gly1569Cys)
| |
17 | g.63941577C= | CA2270161002 | SCN4A | c.4705G= (p.Gly1569=)
| |
17 | g.63941577C>G | CA400615329 | SCN4A | c.4705G>C (p.Gly1569Arg)
| |
17 | g.63941577C>T | CA8708913 | SCN4A | c.4705G>A (p.Gly1569Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941578G>A | CA8708914 | SCN4A | c.4704C>T (p.Cys1568=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941578G>C | CA400615336 | SCN4A | c.4704C>G (p.Cys1568Trp)
| |
17 | g.63941578G= | CA2270161003 | SCN4A | c.4704C= (p.Cys1568=)
| |
17 | g.63941578G>T | CA400615338 | SCN4A | c.4704C>A (p.Cys1568Ter)
| dbSNP |
17 | g.63941579C>A | CA400615341 | SCN4A | c.4703G>T (p.Cys1568Phe)
| |
17 | g.63941579C>G | CA400615344 | SCN4A | c.4703G>C (p.Cys1568Ser)
| |
17 | g.63941579C>T | CA400615346 | SCN4A | c.4703G>A (p.Cys1568Tyr)
| |
17 | g.63941580A>C | CA400615349 | SCN4A | c.4702T>G (p.Cys1568Gly)
| |
17 | g.63941580A>G | CA400615354 | SCN4A | c.4702T>C (p.Cys1568Arg)
| |
17 | g.63941580A>T | CA400615352 | SCN4A | c.4702T>A (p.Cys1568Ser)
| |
17 | g.63941581G>A | CA501348155 | SCN4A | c.4701C>T (p.Asp1567=)
| |
17 | g.63941581G>C | CA400615357 | SCN4A | c.4701C>G (p.Asp1567Glu)
| |
17 | g.63941581G>T | CA400615359 | SCN4A | c.4701C>A (p.Asp1567Glu)
| |
17 | g.63941582T>A | CA400615362 | SCN4A | c.4700A>T (p.Asp1567Val)
| |
17 | g.63941582T>C | CA400615364 | SCN4A | c.4700A>G (p.Asp1567Gly)
| |
17 | g.63941582T>G | CA400615365 | SCN4A | c.4700A>C (p.Asp1567Ala)
| |
17 | g.63941583C>A | CA400615368 | SCN4A | c.4699G>T (p.Asp1567Tyr)
| gnomAD v4 |
17 | g.63941583C= | CA2270161004 | SCN4A | c.4699G= (p.Asp1567=)
| |
17 | g.63941583C>G | CA400615370 | SCN4A | c.4699G>C (p.Asp1567His)
| |
17 | g.63941583C>T | CA8708915 | SCN4A | c.4699G>A (p.Asp1567Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941584A>C | CA501348158 | SCN4A | c.4698T>G (p.Gly1566=)
| |
17 | g.63941584A>G | CA501348159 | SCN4A | c.4698T>C (p.Gly1566=)
| |
17 | g.63941584A>T | CA501348160 | SCN4A | c.4698T>A (p.Gly1566=)
| |
17 | g.63941585C>A | CA400615375 | SCN4A | c.4697G>T (p.Gly1566Val)
| |
17 | g.63941585C>G | CA400615377 | SCN4A | c.4697G>C (p.Gly1566Ala)
| |
17 | g.63941585C>T | CA400615380 | SCN4A | c.4697G>A (p.Gly1566Asp)
| |
17 | g.63941586C>A | CA400615387 | SCN4A | c.4696G>T (p.Gly1566Cys)
| |
17 | g.63941586C= | CA2270161005 | SCN4A | c.4696G= (p.Gly1566=)
| |
17 | g.63941586C>G | CA400615383 | SCN4A | c.4696G>C (p.Gly1566Arg)
| |
17 | g.63941586C>T | CA400615385 | SCN4A | c.4696G>A (p.Gly1566Ser)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.63941587C>A | CA400615389 | SCN4A | c.4695G>T (p.Lys1565Asn)
| |
17 | g.63941587C= | CA2270161006 | SCN4A | c.4695G= (p.Lys1565=)
| |
17 | g.63941587C>G | CA400615391 | SCN4A | c.4695G>C (p.Lys1565Asn)
| |
17 | g.63941587C>T | CA501348161 | SCN4A | c.4695G>A (p.Lys1565=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941588T>A | CA400615394 | SCN4A | c.4694A>T (p.Lys1565Met)
| |
17 | g.63941588T>C | CA400615396 | SCN4A | c.4694A>G (p.Lys1565Arg)
| |
17 | g.63941588T>G | CA400615398 | SCN4A | c.4694A>C (p.Lys1565Thr)
| |
17 | g.63941589T>A | CA400615401 | SCN4A | c.4693A>T (p.Lys1565Ter)
| dbSNP |
17 | g.63941589T>C | CA400615402 | SCN4A | c.4693A>G (p.Lys1565Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941589T>G | CA400615405 | SCN4A | c.4693A>C (p.Lys1565Gln)
| |
17 | g.63941589T= | CA2270161007 | SCN4A | c.4693A= (p.Lys1565=)
| |
17 | g.63941590G>A | CA501348166 | SCN4A | c.4692C>T (p.Val1564=)
| ClinVar gnomAD v4 |
17 | g.63941590G>C | CA501348167 | SCN4A | c.4692C>G (p.Val1564=)
| |
17 | g.63941590G>T | CA501348165 | SCN4A | c.4692C>A (p.Val1564=)
| |
17 | g.63941591A>C | CA400615407 | SCN4A | c.4691T>G (p.Val1564Gly)
| |
17 | g.63941591A>G | CA400615409 | SCN4A | c.4691T>C (p.Val1564Ala)
| |
17 | g.63941591A>T | CA400615411 | SCN4A | c.4691T>A (p.Val1564Asp)
| |
17 | g.63941592C>A | CA400615414 | SCN4A | c.4690G>T (p.Val1564Phe)
| |
17 | g.63941592C= | CA2270161008 | SCN4A | c.4690G= (p.Val1564=)
| |
17 | g.63941592C>G | CA400615416 | SCN4A | c.4690G>C (p.Val1564Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941592C>T | CA205612 | SCN4A | c.4690G>A (p.Val1564Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941592_63941595del | CA2810127879 | SCN4A | c.4687_4690del (p.Val1564ArgfsTer?)
| |
17 | g.63941593A>C | CA400615421 | SCN4A | c.4689T>G (p.Ser1563Arg)
| |
17 | g.63941593A>G | CA501348171 | SCN4A | c.4689T>C (p.Ser1563=)
| gnomAD v4 |
17 | g.63941593A>T | CA400615422 | SCN4A | c.4689T>A (p.Ser1563Arg)
| |
17 | g.63941594C>A | CA400615425 | SCN4A | c.4688G>T (p.Ser1563Ile)
| |
17 | g.63941594C= | CA2270161009 | SCN4A | c.4688G= (p.Ser1563=)
| |
17 | g.63941594C>G | CA400615427 | SCN4A | c.4688G>C (p.Ser1563Thr)
| |
17 | g.63941594C>T | CA8708916 | SCN4A | c.4688G>A (p.Ser1563Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941595T>A | CA400615431 | SCN4A | c.4687A>T (p.Ser1563Cys)
| |
17 | g.63941595T>C | CA400615433 | SCN4A | c.4687A>G (p.Ser1563Gly)
| |
17 | g.63941595T>G | CA400615435 | SCN4A | c.4687A>C (p.Ser1563Arg)
| |
17 | g.63941596G>A | CA501348230 | SCN4A | c.4686C>T (p.Thr1562=)
| |
17 | g.63941596G>C | CA501348229 | SCN4A | c.4686C>G (p.Thr1562=)
| gnomAD v4 |
17 | g.63941596G>T | CA501348228 | SCN4A | c.4686C>A (p.Thr1562=)
| |
17 | g.63941597G>A | CA400615439 | SCN4A | c.4685C>T (p.Thr1562Ile)
| gnomAD v4 |
17 | g.63941597G>C | CA400615441 | SCN4A | c.4685C>G (p.Thr1562Ser)
| |
17 | g.63941597G>T | CA400615444 | SCN4A | c.4685C>A (p.Thr1562Asn)
| |
17 | g.63941598T>A | CA400615447 | SCN4A | c.4684A>T (p.Thr1562Ser)
| |
17 | g.63941598T>C | CA400615449 | SCN4A | c.4684A>G (p.Thr1562Ala)
| |
17 | g.63941598T>G | CA400615452 | SCN4A | c.4684A>C (p.Thr1562Pro)
| |
17 | g.63941599G>A | CA501348234 | SCN4A | c.4683C>T (p.Gly1561=)
| |
17 | g.63941599G>C | CA501348235 | SCN4A | c.4683C>G (p.Gly1561=)
| |
17 | g.63941599G>T | CA501348237 | SCN4A | c.4683C>A (p.Gly1561=)
| gnomAD v4 |
17 | g.63941600C>A | CA400615454 | SCN4A | c.4682G>T (p.Gly1561Val)
| |
17 | g.63941600C>G | CA400615458 | SCN4A | c.4682G>C (p.Gly1561Ala)
| |
17 | g.63941600C>T | CA400615456 | SCN4A | c.4682G>A (p.Gly1561Asp)
| |
17 | g.63941601C>A | CA400615461 | SCN4A | c.4681G>T (p.Gly1561Cys)
| |
17 | g.63941601C>G | CA400615466 | SCN4A | c.4681G>C (p.Gly1561Arg)
| |
17 | g.63941601C>T | CA400615463 | SCN4A | c.4681G>A (p.Gly1561Ser)
| |
17 | g.63941602C>A | CA501348238 | SCN4A | c.4680G>T (p.Pro1560=)
| |
17 | g.63941602C= | CA2270161010 | SCN4A | c.4680G= (p.Pro1560=)
| |
17 | g.63941602C>G | CA501348239 | SCN4A | c.4680G>C (p.Pro1560=)
| |
17 | g.63941602C>T | CA8708917 | SCN4A | c.4680G>A (p.Pro1560=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941603G>A | CA8708918 | SCN4A | c.4679C>T (p.Pro1560Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941603G>C | CA400615473 | SCN4A | c.4679C>G (p.Pro1560Arg)
| |
17 | g.63941603G= | CA2270161011 | SCN4A | c.4679C= (p.Pro1560=)
| |
17 | g.63941603G>T | CA400615475 | SCN4A | c.4679C>A (p.Pro1560Gln)
| |
17 | g.63941604G>A | CA400615478 | SCN4A | c.4678C>T (p.Pro1560Ser)
| ClinVar COSMIC |
17 | g.63941604G>C | CA8708919 | SCN4A | c.4678C>G (p.Pro1560Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941604G= | CA2270161012 | SCN4A | c.4678C= (p.Pro1560=)
| |
17 | g.63941604G>T | CA400615482 | SCN4A | c.4678C>A (p.Pro1560Thr)
| ClinVar |
17 | g.63941605G>A | CA501348243 | SCN4A | c.4677C>T (p.Asn1559=)
| dbSNP gnomAD v4 |
17 | g.63941605G>C | CA400615486 | SCN4A | c.4677C>G (p.Asn1559Lys)
| |
17 | g.63941605G= | CA2270161013 | SCN4A | c.4677C= (p.Asn1559=)
| |
17 | g.63941605G>T | CA400615488 | SCN4A | c.4677C>A (p.Asn1559Lys)
| |
17 | g.63941606T>A | CA400615491 | SCN4A | c.4676A>T (p.Asn1559Ile)
| |
17 | g.63941606T>C | CA400615492 | SCN4A | c.4676A>G (p.Asn1559Ser)
| |
17 | g.63941606T>G | CA400615495 | SCN4A | c.4676A>C (p.Asn1559Thr)
| gnomAD v4 |
17 | g.63941607T>A | CA400615499 | SCN4A | c.4675A>T (p.Asn1559Tyr)
| |
17 | g.63941607T>C | CA400615503 | SCN4A | c.4675A>G (p.Asn1559Asp)
| |
17 | g.63941607T>G | CA400615501 | SCN4A | c.4675A>C (p.Asn1559His)
| |
17 | g.63941608C>A | CA400615505 | SCN4A | c.4674G>T (p.Glu1558Asp)
| |
17 | g.63941608C= | CA2270161014 | SCN4A | c.4674G= (p.Glu1558=)
| |
17 | g.63941608C>G | CA400615506 | SCN4A | c.4674G>C (p.Glu1558Asp)
| |
17 | g.63941608C>T | CA8708920 | SCN4A | c.4674G>A (p.Glu1558=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63941609T>A | CA400615507 | SCN4A | c.4673A>T (p.Glu1558Val)
| |
17 | g.63941609T>C | CA400615508 | SCN4A | c.4673A>G (p.Glu1558Gly)
| |
17 | g.63941609T>G | CA400615509 | SCN4A | c.4673A>C (p.Glu1558Ala)
| |
17 | g.63941610C>A | CA400615510 | SCN4A | c.4672G>T (p.Glu1558Ter)
| dbSNP |
17 | g.63941610C= | CA2270161015 | SCN4A | c.4672G= (p.Glu1558=)
| |
17 | g.63941610C>G | CA400615511 | SCN4A | c.4672G>C (p.Glu1558Gln)
| gnomAD v4 |
17 | g.63941610C>T | CA400615512 | SCN4A | c.4672G>A (p.Glu1558Lys)
| COSMIC |
17 | g.63941611C>A | CA501348249 | SCN4A | c.4671G>T (p.Leu1557=)
| |
17 | g.63941611C= | CA2270161016 | SCN4A | c.4671G= (p.Leu1557=)
| |
17 | g.63941611C>G | CA501348250 | SCN4A | c.4671G>C (p.Leu1557=)
| |
17 | g.63941611C>T | CA501348251 | SCN4A | c.4671G>A (p.Leu1557=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941612A= | CA2270161017 | SCN4A | c.4670T= (p.Leu1557=)
| |
17 | g.63941612A>C | CA400615515 | SCN4A | c.4670T>G (p.Leu1557Arg)
| |
17 | g.63941612A>G | CA400615514 | SCN4A | c.4670T>C (p.Leu1557Pro)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941612A>T | CA400615513 | SCN4A | c.4670T>A (p.Leu1557Gln)
| |
17 | g.63941613G>A | CA501348255 | SCN4A | c.4669C>T (p.Leu1557=)
| |
17 | g.63941613G>C | CA400615516 | SCN4A | c.4669C>G (p.Leu1557Val)
| gnomAD v4 |
17 | g.63941613G>T | CA400615517 | SCN4A | c.4669C>A (p.Leu1557Met)
| |
17 | g.63941614G>A | CA501348257 | SCN4A | c.4668C>T (p.Asn1556=)
| |
17 | g.63941614G>C | CA400615518 | SCN4A | c.4668C>G (p.Asn1556Lys)
| dbSNP gnomAD v4 |
17 | g.63941614G= | CA2270161018 | SCN4A | c.4668C= (p.Asn1556=)
| |
17 | g.63941614G>T | CA400615519 | SCN4A | c.4668C>A (p.Asn1556Lys)
| |
17 | g.63941615T>A | CA400615520 | SCN4A | c.4667A>T (p.Asn1556Ile)
| |
17 | g.63941615T>C | CA8708921 | SCN4A | c.4667A>G (p.Asn1556Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941615T>G | CA400615521 | SCN4A | c.4667A>C (p.Asn1556Thr)
| |
17 | g.63941615T= | CA2270161019 | SCN4A | c.4667A= (p.Asn1556=)
| |
17 | g.63941616T>A | CA400615522 | SCN4A | c.4666A>T (p.Asn1556Tyr)
| |
17 | g.63941616T>C | CA400615523 | SCN4A | c.4666A>G (p.Asn1556Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941616T>G | CA400615524 | SCN4A | c.4666A>C (p.Asn1556His)
| |
17 | g.63941616T= | CA2270161020 | SCN4A | c.4666A= (p.Asn1556=)
| |
17 | g.63941617G>A | CA8708922 | SCN4A | c.4665C>T (p.Pro1555=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941617G>C | CA501348261 | SCN4A | c.4665C>G (p.Pro1555=)
| |
17 | g.63941617G= | CA2270161021 | SCN4A | c.4665C= (p.Pro1555=)
| |
17 | g.63941617G>T | CA501348262 | SCN4A | c.4665C>A (p.Pro1555=)
| |
17 | g.63941618G>A | CA400615527 | SCN4A | c.4664C>T (p.Pro1555Leu)
| gnomAD v4 |
17 | g.63941618G>C | CA400615526 | SCN4A | c.4664C>G (p.Pro1555Arg)
| |
17 | g.63941618G= | CA2270161022 | SCN4A | c.4664C= (p.Pro1555=)
| |
17 | g.63941618G>T | CA400615525 | SCN4A | c.4664C>A (p.Pro1555His)
| dbSNP |
17 | g.63941619G>A | CA400615528 | SCN4A | c.4663C>T (p.Pro1555Ser)
| |
17 | g.63941619G>C | CA400615529 | SCN4A | c.4663C>G (p.Pro1555Ala)
| |
17 | g.63941619G>T | CA400615530 | SCN4A | c.4663C>A (p.Pro1555Thr)
| COSMIC |
17 | g.63941620G>A | CA501348264 | SCN4A | c.4662C>T (p.Asp1554=)
| |
17 | g.63941620G>C | CA400615531 | SCN4A | c.4662C>G (p.Asp1554Glu)
| |
17 | g.63941620G= | CA2270161023 | SCN4A | c.4662C= (p.Asp1554=)
| |
17 | g.63941620G>T | CA292956928 | SCN4A | c.4662C>A (p.Asp1554Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941621T>A | CA400615532 | SCN4A | c.4661A>T (p.Asp1554Val)
| |
17 | g.63941621T>C | CA400615533 | SCN4A | c.4661A>G (p.Asp1554Gly)
| |
17 | g.63941621T>G | CA400615534 | SCN4A | c.4661A>C (p.Asp1554Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941621T= | CA2270161024 | SCN4A | c.4661A= (p.Asp1554=)
| |
17 | g.63941622C>A | CA400615535 | SCN4A | c.4660G>T (p.Asp1554Tyr)
| ClinVar |
17 | g.63941622C>G | CA400615536 | SCN4A | c.4660G>C (p.Asp1554His)
| gnomAD v4 |
17 | g.63941622C>T | CA400615537 | SCN4A | c.4660G>A (p.Asp1554Asn)
| |
17 | g.63941623A= | CA2270161025 | SCN4A | c.4659T= (p.Cys1553=)
| |
17 | g.63941623A>C | CA400615538 | SCN4A | c.4659T>G (p.Cys1553Trp)
| |
17 | g.63941623A>G | CA501348271 | SCN4A | c.4659T>C (p.Cys1553=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941623A>T | CA400615539 | SCN4A | c.4659T>A (p.Cys1553Ter)
| |
17 | g.63941624C>A | CA400615541 | SCN4A | c.4658G>T (p.Cys1553Phe)
| |
17 | g.63941624C>G | CA400615542 | SCN4A | c.4658G>C (p.Cys1553Ser)
| |
17 | g.63941624C>T | CA400615540 | SCN4A | c.4658G>A (p.Cys1553Tyr)
| |
17 | g.63941625A>C | CA400615544 | SCN4A | c.4657T>G (p.Cys1553Gly)
| |
17 | g.63941625A>G | CA400615543 | SCN4A | c.4657T>C (p.Cys1553Arg)
| |
17 | g.63941625A>T | CA400615545 | SCN4A | c.4657T>A (p.Cys1553Ser)
| |
17 | g.63941626G>A | CA501348277 | SCN4A | c.4656C>T (p.Asp1552=)
| gnomAD v4 |
17 | g.63941626G>C | CA400615546 | SCN4A | c.4656C>G (p.Asp1552Glu)
| |
17 | g.63941626G>T | CA400615547 | SCN4A | c.4656C>A (p.Asp1552Glu)
| |
17 | g.63941627T>A | CA400615548 | SCN4A | c.4655A>T (p.Asp1552Val)
| |
17 | g.63941627T>C | CA400615549 | SCN4A | c.4655A>G (p.Asp1552Gly)
| |
17 | g.63941627T>G | CA400615550 | SCN4A | c.4655A>C (p.Asp1552Ala)
| |
17 | g.63941628C>A | CA400615551 | SCN4A | c.4654G>T (p.Asp1552Tyr)
| |
17 | g.63941628C= | CA2270161026 | SCN4A | c.4654G= (p.Asp1552=)
| |
17 | g.63941628C>G | CA8708923 | SCN4A | c.4654G>C (p.Asp1552His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941628C>T | CA400615552 | SCN4A | c.4654G>A (p.Asp1552Asn)
| |
17 | g.63941629T>A | CA501348280 | SCN4A | c.4653A>T (p.Pro1551=)
| ClinVar |
17 | g.63941629T>C | CA501348282 | SCN4A | c.4653A>G (p.Pro1551=)
| |
17 | g.63941629T>G | CA501348284 | SCN4A | c.4653A>C (p.Pro1551=)
| dbSNP |
17 | g.63941629T= | CA2270161027 | SCN4A | c.4653A= (p.Pro1551=)
| |
17 | g.63941630G>A | CA400615553 | SCN4A | c.4652C>T (p.Pro1551Leu)
| |
17 | g.63941630G>C | CA400615554 | SCN4A | c.4652C>G (p.Pro1551Arg)
| |
17 | g.63941630G>T | CA400615555 | SCN4A | c.4652C>A (p.Pro1551Gln)
| |
17 | g.63941634del | CA2810127883 | SCN4A | c.4652del (p.Pro1551GlnfsTer?)
| |
17 | g.63941631G>A | CA400615559 | SCN4A | c.4651C>T (p.Pro1551Ser)
| |
17 | g.63941631G>C | CA400615557 | SCN4A | c.4651C>G (p.Pro1551Ala)
| |
17 | g.63941631G>T | CA400615556 | SCN4A | c.4651C>A (p.Pro1551Thr)
| |
17 | g.63941632G>A | CA501348287 | SCN4A | c.4650C>T (p.Pro1550=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941632G>C | CA501348288 | SCN4A | c.4650C>G (p.Pro1550=)
| |
17 | g.63941632G= | CA2270161028 | SCN4A | c.4650C= (p.Pro1550=)
| |
17 | g.63941632G>T | CA501348289 | SCN4A | c.4650C>A (p.Pro1550=)
| dbSNP gnomAD v4 |
17 | g.63941633G>A | CA400615560 | SCN4A | c.4649C>T (p.Pro1550Leu)
| |
17 | g.63941633G>C | CA400615561 | SCN4A | c.4649C>G (p.Pro1550Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941633G= | CA2270161029 | SCN4A | c.4649C= (p.Pro1550=)
| |
17 | g.63941633G>T | CA400615562 | SCN4A | c.4649C>A (p.Pro1550His)
| |
17 | g.63941634G>A | CA292956940 | SCN4A | c.4648C>T (p.Pro1550Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941634G>C | CA400615563 | SCN4A | c.4648C>G (p.Pro1550Ala)
| |
17 | g.63941634G= | CA2270161030 | SCN4A | c.4648C= (p.Pro1550=)
| |
17 | g.63941634G>T | CA400615564 | SCN4A | c.4648C>A (p.Pro1550Thr)
| gnomAD v4 COSMIC |
17 | g.63941635C>A | CA501348295 | SCN4A | c.4647G>T (p.Gly1549=)
| |
17 | g.63941635C>G | CA501348294 | SCN4A | c.4647G>C (p.Gly1549=)
| |
17 | g.63941635C>T | CA501348293 | SCN4A | c.4647G>A (p.Gly1549=)
| |
17 | g.63941636C>A | CA400615565 | SCN4A | c.4646G>T (p.Gly1549Val)
| |
17 | g.63941636C>G | CA400615566 | SCN4A | c.4646G>C (p.Gly1549Ala)
| |
17 | g.63941636C>T | CA400615567 | SCN4A | c.4646G>A (p.Gly1549Glu)
| ClinVar gnomAD v4 |
17 | g.63941637C>A | CA400615568 | SCN4A | c.4645G>T (p.Gly1549Trp)
| |
17 | g.63941637C= | CA2270161031 | SCN4A | c.4645G= (p.Gly1549=)
| |
17 | g.63941637C>G | CA8708925 | SCN4A | c.4645G>C (p.Gly1549Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941637C>T | CA8708924 | SCN4A | c.4645G>A (p.Gly1549Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63941638G>A | CA8708926 | SCN4A | c.4644C>T (p.Ser1548=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941638G>C | CA400615570 | SCN4A | c.4644C>G (p.Ser1548Arg)
| |
17 | g.63941638G= | CA2270161032 | SCN4A | c.4644C= (p.Ser1548=)
| |
17 | g.63941638G>T | CA400615569 | SCN4A | c.4644C>A (p.Ser1548Arg)
| |
17 | g.63941639C>A | CA400615571 | SCN4A | c.4643G>T (p.Ser1548Ile)
| |
17 | g.63941639C>G | CA400615572 | SCN4A | c.4643G>C (p.Ser1548Thr)
| |
17 | g.63941639C>T | CA400615573 | SCN4A | c.4643G>A (p.Ser1548Asn)
| |
17 | g.63941640T>A | CA400615574 | SCN4A | c.4642A>T (p.Ser1548Cys)
| COSMIC |
17 | g.63941640T>C | CA400615575 | SCN4A | c.4642A>G (p.Ser1548Gly)
| ClinVar dbSNP |
17 | g.63941640T>G | CA400615576 | SCN4A | c.4642A>C (p.Ser1548Arg)
| |
17 | g.63941640T= | CA2270161034 | SCN4A | c.4642A= (p.Ser1548=)
| |
17 | g.63941640_63941652delinsTGTTGAGGATGGG | CA2270161033 | SCN4A | c.4630_4642delinsCCCATCCTCAACA (p.Pro1544=)
| |
17 | g.63941641G>A | CA501348305 | SCN4A | c.4641C>T (p.Asn1547=)
| gnomAD v4 |
17 | g.63941641G>C | CA400615577 | SCN4A | c.4641C>G (p.Asn1547Lys)
| |
17 | g.63941641G>T | CA400615578 | SCN4A | c.4641C>A (p.Asn1547Lys)
| |
17 | g.63941649_63941660del | CA8708927 | SCN4A | c.4630_4641del (p.Pro1544_Asn1547del)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.63941642T>A | CA400615579 | SCN4A | c.4640A>T (p.Asn1547Ile)
| |
17 | g.63941642T>C | CA400615580 | SCN4A | c.4640A>G (p.Asn1547Ser)
| |
17 | g.63941642T>G | CA400615581 | SCN4A | c.4640A>C (p.Asn1547Thr)
| |
17 | g.63941643T>A | CA400615582 | SCN4A | c.4639A>T (p.Asn1547Tyr)
| |
17 | g.63941643T>C | CA400615583 | SCN4A | c.4639A>G (p.Asn1547Asp)
| |
17 | g.63941643T>G | CA8708928 | SCN4A | c.4639A>C (p.Asn1547His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941643T= | CA2270161035 | SCN4A | c.4639A= (p.Asn1547=)
| |
17 | g.63941644G>A | CA501348307 | SCN4A | c.4638C>T (p.Leu1546=)
| |
17 | g.63941644G>C | CA501348308 | SCN4A | c.4638C>G (p.Leu1546=)
| |
17 | g.63941644G>T | CA501348309 | SCN4A | c.4638C>A (p.Leu1546=)
| |
17 | g.63941645A>C | CA400615584 | SCN4A | c.4637T>G (p.Leu1546Arg)
| |
17 | g.63941645A>G | CA400615585 | SCN4A | c.4637T>C (p.Leu1546Pro)
| |
17 | g.63941645A>T | CA400615586 | SCN4A | c.4637T>A (p.Leu1546His)
| |
17 | g.63941646G>A | CA400615587 | SCN4A | c.4636C>T (p.Leu1546Phe)
| gnomAD v4 |
17 | g.63941646G>C | CA400615588 | SCN4A | c.4636C>G (p.Leu1546Val)
| |
17 | g.63941646G>T | CA400615589 | SCN4A | c.4636C>A (p.Leu1546Ile)
| |
17 | g.63941647G>A | CA501348310 | SCN4A | c.4635C>T (p.Ile1545=)
| gnomAD v4 |
17 | g.63941647G>C | CA400615590 | SCN4A | c.4635C>G (p.Ile1545Met)
| |
17 | g.63941647G>T | CA501348312 | SCN4A | c.4635C>A (p.Ile1545=)
| |
17 | g.63941648A>C | CA400615591 | SCN4A | c.4634T>G (p.Ile1545Ser)
| |
17 | g.63941648A>G | CA400615592 | SCN4A | c.4634T>C (p.Ile1545Thr)
| |
17 | g.63941648A>T | CA400615593 | SCN4A | c.4634T>A (p.Ile1545Asn)
| |
17 | g.63941649T>A | CA400615594 | SCN4A | c.4633A>T (p.Ile1545Phe)
| |
17 | g.63941649T>C | CA8708929 | SCN4A | c.4633A>G (p.Ile1545Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941649T>G | CA400615595 | SCN4A | c.4633A>C (p.Ile1545Leu)
| dbSNP |
17 | g.63941649T= | CA2270161036 | SCN4A | c.4633A= (p.Ile1545=)
| |
17 | g.63941650G>A | CA501348315 | SCN4A | c.4632C>T (p.Pro1544=)
| |
17 | g.63941650G>C | CA501348314 | SCN4A | c.4632C>G (p.Pro1544=)
| |
17 | g.63941650G>T | CA501348313 | SCN4A | c.4632C>A (p.Pro1544=)
| |
17 | g.63941651G>A | CA400615598 | SCN4A | c.4631C>T (p.Pro1544Leu)
| |
17 | g.63941651G>C | CA400615597 | SCN4A | c.4631C>G (p.Pro1544Arg)
| dbSNP |
17 | g.63941651G= | CA2270161037 | SCN4A | c.4631C= (p.Pro1544=)
| |
17 | g.63941651G>T | CA400615596 | SCN4A | c.4631C>A (p.Pro1544His)
| |
17 | g.63941652G>A | CA400615599 | SCN4A | c.4630C>T (p.Pro1544Ser)
| |
17 | g.63941652G>C | CA400615600 | SCN4A | c.4630C>G (p.Pro1544Ala)
| |
17 | g.63941652G>T | CA400615601 | SCN4A | c.4630C>A (p.Pro1544Thr)
| |
17 | g.63941653G>A | CA292956972 | SCN4A | c.4629C>T (p.Asn1543=)
| dbSNP |
17 | g.63941653G>C | CA400615602 | SCN4A | c.4629C>G (p.Asn1543Lys)
| |
17 | g.63941653G= | CA2270161038 | SCN4A | c.4629C= (p.Asn1543=)
| |
17 | g.63941653G>T | CA292956974 | SCN4A | c.4629C>A (p.Asn1543Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941654T>A | CA400615603 | SCN4A | c.4628A>T (p.Asn1543Ile)
| |
17 | g.63941654T>C | CA400615604 | SCN4A | c.4628A>G (p.Asn1543Ser)
| |
17 | g.63941654T>G | CA400615605 | SCN4A | c.4628A>C (p.Asn1543Thr)
| dbSNP |
17 | g.63941654T= | CA2270161039 | SCN4A | c.4628A= (p.Asn1543=)
| |
17 | g.63941655T>A | CA400615606 | SCN4A | c.4627A>T (p.Asn1543Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941655T>C | CA400615608 | SCN4A | c.4627A>G (p.Asn1543Asp)
| gnomAD v4 |
17 | g.63941655T>G | CA400615607 | SCN4A | c.4627A>C (p.Asn1543His)
| |
17 | g.63941655T= | CA2270161040 | SCN4A | c.4627A= (p.Asn1543=)
| |
17 | g.63941656G>A | CA8708930 | SCN4A | c.4626C>T (p.Leu1542=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941656G>C | CA501348327 | SCN4A | c.4626C>G (p.Leu1542=)
| |
17 | g.63941656G= | CA2270161041 | SCN4A | c.4626C= (p.Leu1542=)
| |
17 | g.63941656G>T | CA501348326 | SCN4A | c.4626C>A (p.Leu1542=)
| |
17 | g.63941657A>C | CA400615609 | SCN4A | c.4625T>G (p.Leu1542Arg)
| |
17 | g.63941657A>G | CA400615610 | SCN4A | c.4625T>C (p.Leu1542Pro)
| |
17 | g.63941657A>T | CA400615611 | SCN4A | c.4625T>A (p.Leu1542His)
| |
17 | g.63941658G>A | CA400615612 | SCN4A | c.4624C>T (p.Leu1542Phe)
| |
17 | g.63941658G>C | CA400615614 | SCN4A | c.4624C>G (p.Leu1542Val)
| |
17 | g.63941658G>T | CA400615613 | SCN4A | c.4624C>A (p.Leu1542Ile)
| |
17 | g.63941659G>A | CA501348330 | SCN4A | c.4623C>T (p.Leu1541=)
| |
17 | g.63941659G>C | CA501348331 | SCN4A | c.4623C>G (p.Leu1541=)
| |
17 | g.63941659G>T | CA501348332 | SCN4A | c.4623C>A (p.Leu1541=)
| |
17 | g.63941660A>C | CA400615615 | SCN4A | c.4622T>G (p.Leu1541Arg)
| |
17 | g.63941660A>G | CA400615616 | SCN4A | c.4622T>C (p.Leu1541Pro)
| |
17 | g.63941660A>T | CA400615617 | SCN4A | c.4622T>A (p.Leu1541His)
| |
17 | g.63941661G>A | CA400615618 | SCN4A | c.4621C>T (p.Leu1541Phe)
| gnomAD v4 |
17 | g.63941661G>C | CA400615619 | SCN4A | c.4621C>G (p.Leu1541Val)
| |
17 | g.63941661G= | CA2270161042 | SCN4A | c.4621C= (p.Leu1541=)
| |
17 | g.63941661G>T | CA400615620 | SCN4A | c.4621C>A (p.Leu1541Ile)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941662C>A | CA501348337 | SCN4A | c.4620G>T (p.Gly1540=)
| gnomAD v4 |
17 | g.63941662C= | CA2270161043 | SCN4A | c.4620G= (p.Gly1540=)
| |
17 | g.63941662C>G | CA501348340 | SCN4A | c.4620G>C (p.Gly1540=)
| |
17 | g.63941662C>T | CA501348339 | SCN4A | c.4620G>A (p.Gly1540=)
| dbSNP |
17 | g.63941663C>A | CA400615621 | SCN4A | c.4619G>T (p.Gly1540Val)
| |
17 | g.63941663C>G | CA400615622 | SCN4A | c.4619G>C (p.Gly1540Ala)
| |
17 | g.63941663C>T | CA400615623 | SCN4A | c.4619G>A (p.Gly1540Glu)
| |
17 | g.63941664C>A | CA400615624 | SCN4A | c.4618G>T (p.Gly1540Trp)
| |
17 | g.63941664C= | CA2270161044 | SCN4A | c.4618G= (p.Gly1540=)
| |
17 | g.63941664C>G | CA400615625 | SCN4A | c.4618G>C (p.Gly1540Arg)
| |
17 | g.63941664C>T | CA8708931 | SCN4A | c.4618G>A (p.Gly1540Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941665G>A | CA8708932 | SCN4A | c.4617C>T (p.Asp1539=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941665G>C | CA400615627 | SCN4A | c.4617C>G (p.Asp1539Glu)
| |
17 | g.63941665G= | CA2270161045 | SCN4A | c.4617C= (p.Asp1539=)
| |
17 | g.63941665G>T | CA400615626 | SCN4A | c.4617C>A (p.Asp1539Glu)
| |
17 | g.63941666T>A | CA400615628 | SCN4A | c.4616A>T (p.Asp1539Val)
| |
17 | g.63941666T>C | CA400615629 | SCN4A | c.4616A>G (p.Asp1539Gly)
| dbSNP |
17 | g.63941666T>G | CA400615630 | SCN4A | c.4616A>C (p.Asp1539Ala)
| |
17 | g.63941666T= | CA2270161046 | SCN4A | c.4616A= (p.Asp1539=)
| |
17 | g.63941667C>A | CA400615631 | SCN4A | c.4615G>T (p.Asp1539Tyr)
| |
17 | g.63941667C= | CA2270161047 | SCN4A | c.4615G= (p.Asp1539=)
| |
17 | g.63941667C>G | CA400615632 | SCN4A | c.4615G>C (p.Asp1539His)
| |
17 | g.63941667C>T | CA8708933 | SCN4A | c.4615G>A (p.Asp1539Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941668C>A | CA400615633 | SCN4A | c.4614G>T (p.Trp1538Cys)
| |
17 | g.63941668C= | CA2270161048 | SCN4A | c.4614G= (p.Trp1538=)
| |
17 | g.63941668C>G | CA400615634 | SCN4A | c.4614G>C (p.Trp1538Cys)
| |
17 | g.63941668C>T | CA400615635 | SCN4A | c.4614G>A (p.Trp1538Ter)
| dbSNP |
17 | g.63941669C>A | CA400615636 | SCN4A | c.4613G>T (p.Trp1538Leu)
| |
17 | g.63941669C>G | CA400615637 | SCN4A | c.4613G>C (p.Trp1538Ser)
| |
17 | g.63941669C>T | CA400615638 | SCN4A | c.4613G>A (p.Trp1538Ter)
| COSMIC |
17 | g.63941670A>C | CA400615641 | SCN4A | c.4612T>G (p.Trp1538Gly)
| |
17 | g.63941670A>G | CA400615640 | SCN4A | c.4612T>C (p.Trp1538Arg)
| |
17 | g.63941670A>T | CA400615639 | SCN4A | c.4612T>A (p.Trp1538Arg)
| |
17 | g.63941671G>A | CA501348352 | SCN4A | c.4611C>T (p.Gly1537=)
| |
17 | g.63941671G>C | CA501348350 | SCN4A | c.4611C>G (p.Gly1537=)
| |
17 | g.63941671G>T | CA501348351 | SCN4A | c.4611C>A (p.Gly1537=)
| |
17 | g.63941672C>A | CA400615642 | SCN4A | c.4610G>T (p.Gly1537Val)
| |
17 | g.63941672C>G | CA400615643 | SCN4A | c.4610G>C (p.Gly1537Ala)
| ClinVar |
17 | g.63941672C>T | CA400615644 | SCN4A | c.4610G>A (p.Gly1537Asp)
| |