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)
| |
17 | g.63941673C>A | CA292957001 | SCN4A | c.4609G>T (p.Gly1537Cys)
| dbSNP |
17 | g.63941673C= | CA2270161049 | SCN4A | c.4609G= (p.Gly1537=)
| |
17 | g.63941673C>G | CA400615645 | SCN4A | c.4609G>C (p.Gly1537Arg)
| |
17 | g.63941673C>T | CA354829 | SCN4A | c.4609G>A (p.Gly1537Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941674G>A | CA8708934 | SCN4A | c.4608C>T (p.Ala1536=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941674G>C | CA501348356 | SCN4A | c.4608C>G (p.Ala1536=)
| |
17 | g.63941674G= | CA2270161050 | SCN4A | c.4608C= (p.Ala1536=)
| |
17 | g.63941674G>T | CA501348357 | SCN4A | c.4608C>A (p.Ala1536=)
| |
17 | g.63941675G>A | CA292957015 | SCN4A | c.4607C>T (p.Ala1536Val)
| dbSNP gnomAD v4 |
17 | g.63941675G>C | CA400615646 | SCN4A | c.4607C>G (p.Ala1536Gly)
| |
17 | g.63941675G= | CA2270161051 | SCN4A | c.4607C= (p.Ala1536=)
| |
17 | g.63941675G>T | CA400615647 | SCN4A | c.4607C>A (p.Ala1536Asp)
| |
17 | g.63941676C>A | CA400615648 | SCN4A | c.4606G>T (p.Ala1536Ser)
| gnomAD v4 |
17 | g.63941676C>G | CA400615649 | SCN4A | c.4606G>C (p.Ala1536Pro)
| |
17 | g.63941676C>T | CA400615650 | SCN4A | c.4606G>A (p.Ala1536Thr)
| |
17 | g.63941677C>A | CA501348359 | SCN4A | c.4605G>T (p.Ser1535=)
| gnomAD v4 |
17 | g.63941677C= | CA2270161052 | SCN4A | c.4605G= (p.Ser1535=)
| |
17 | g.63941677C>G | CA8708936 | SCN4A | c.4605G>C (p.Ser1535=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941677C>T | CA8708935 | SCN4A | c.4605G>A (p.Ser1535=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941678G>A | CA400615651 | SCN4A | c.4604C>T (p.Ser1535Leu)
| |
17 | g.63941678G>C | CA400615653 | SCN4A | c.4604C>G (p.Ser1535Trp)
| |
17 | g.63941678G= | CA2270161053 | SCN4A | c.4604C= (p.Ser1535=)
| |
17 | g.63941678G>T | CA400615652 | SCN4A | c.4604C>A (p.Ser1535Ter)
| dbSNP |
17 | g.63941679A>C | CA400615654 | SCN4A | c.4603T>G (p.Ser1535Ala)
| |
17 | g.63941679A>G | CA400615656 | SCN4A | c.4603T>C (p.Ser1535Pro)
| |
17 | g.63941679A>T | CA400615655 | SCN4A | c.4603T>A (p.Ser1535Thr)
| |
17 | g.63941680C>A | CA501348362 | SCN4A | c.4602G>T (p.Thr1534=)
| COSMIC |
17 | g.63941680C= | CA2270161054 | SCN4A | c.4602G= (p.Thr1534=)
| |
17 | g.63941680C>G | CA501348363 | SCN4A | c.4602G>C (p.Thr1534=)
| |
17 | g.63941680C>T | CA8708937 | SCN4A | c.4602G>A (p.Thr1534=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941681G>A | CA292957030 | SCN4A | c.4601C>T (p.Thr1534Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941681G>C | CA400615657 | SCN4A | c.4601C>G (p.Thr1534Arg)
| |
17 | g.63941681G= | CA2270161055 | SCN4A | c.4601C= (p.Thr1534=)
| |
17 | g.63941681G>T | CA400615658 | SCN4A | c.4601C>A (p.Thr1534Lys)
| ClinVar dbSNP |
17 | g.63941682T>A | CA400615659 | SCN4A | c.4600A>T (p.Thr1534Ser)
| |
17 | g.63941682T>C | CA400615660 | SCN4A | c.4600A>G (p.Thr1534Ala)
| COSMIC |
17 | g.63941682T>G | CA400615661 | SCN4A | c.4600A>C (p.Thr1534Pro)
| |
17 | g.63941683G>A | CA501348364 | SCN4A | c.4599C>T (p.Thr1533=)
| |
17 | g.63941683G>C | CA501348365 | SCN4A | c.4599C>G (p.Thr1533=)
| |
17 | g.63941683G>T | CA501348366 | SCN4A | c.4599C>A (p.Thr1533=)
| gnomAD v4 |
17 | g.63941684G>A | CA400615662 | SCN4A | c.4598C>T (p.Thr1533Ile)
| |
17 | g.63941684G>C | CA8708938 | SCN4A | c.4598C>G (p.Thr1533Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941684G= | CA2270161056 | SCN4A | c.4598C= (p.Thr1533=)
| |
17 | g.63941684G>T | CA400615663 | SCN4A | c.4598C>A (p.Thr1533Asn)
| |
17 | g.63941685T>A | CA400615664 | SCN4A | c.4597A>T (p.Thr1533Ser)
| |
17 | g.63941685T>C | CA400615665 | SCN4A | c.4597A>G (p.Thr1533Ala)
| gnomAD v4 |
17 | g.63941685T>G | CA400615666 | SCN4A | c.4597A>C (p.Thr1533Pro)
| |
17 | g.63941686G>A | CA501348367 | SCN4A | c.4596C>T (p.Ile1532=)
| |
17 | g.63941686G>C | CA400615667 | SCN4A | c.4596C>G (p.Ile1532Met)
| |
17 | g.63941686G>T | CA501348368 | SCN4A | c.4596C>A (p.Ile1532=)
| |
17 | g.63941687A>C | CA400615668 | SCN4A | c.4595T>G (p.Ile1532Ser)
| |
17 | g.63941687A>G | CA400615669 | SCN4A | c.4595T>C (p.Ile1532Thr)
| |
17 | g.63941687A>T | CA400615670 | SCN4A | c.4595T>A (p.Ile1532Asn)
| gnomAD v4 |
17 | g.63941688T>A | CA8708939 | SCN4A | c.4594A>T (p.Ile1532Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941688T>C | CA400615671 | SCN4A | c.4594A>G (p.Ile1532Val)
| |
17 | g.63941688T>G | CA400615672 | SCN4A | c.4594A>C (p.Ile1532Leu)
| |
17 | g.63941688T= | CA2270161057 | SCN4A | c.4594A= (p.Ile1532=)
| |
17 | g.63941689C>A | CA400615673 | SCN4A | c.4593G>T (p.Glu1531Asp)
| |
17 | g.63941689C= | CA2270161058 | SCN4A | c.4593G= (p.Glu1531=)
| |
17 | g.63941689C>G | CA400615674 | SCN4A | c.4593G>C (p.Glu1531Asp)
| |
17 | g.63941689C>T | CA501348370 | SCN4A | c.4593G>A (p.Glu1531=)
| dbSNP |
17 | g.63941690T>A | CA400615675 | SCN4A | c.4592A>T (p.Glu1531Val)
| |
17 | g.63941690T>C | CA400615676 | SCN4A | c.4592A>G (p.Glu1531Gly)
| |
17 | g.63941690T>G | CA400615677 | SCN4A | c.4592A>C (p.Glu1531Ala)
| |
17 | g.63941691C>A | CA400615680 | SCN4A | c.4591G>T (p.Glu1531Ter)
| dbSNP |
17 | g.63941691C= | CA2270161059 | SCN4A | c.4591G= (p.Glu1531=)
| |
17 | g.63941691C>G | CA400615679 | SCN4A | c.4591G>C (p.Glu1531Gln)
| gnomAD v4 |
17 | g.63941691C>T | CA400615678 | SCN4A | c.4591G>A (p.Glu1531Lys)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.63941692G>A | CA8708940 | SCN4A | c.4590C>T (p.Phe1530=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941692G>C | CA400615681 | SCN4A | c.4590C>G (p.Phe1530Leu)
| gnomAD v4 |
17 | g.63941692G= | CA2270161060 | SCN4A | c.4590C= (p.Phe1530=)
| |
17 | g.63941692G>T | CA400615682 | SCN4A | c.4590C>A (p.Phe1530Leu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941693A>C | CA400615683 | SCN4A | c.4589T>G (p.Phe1530Cys)
| |
17 | g.63941693A>G | CA400615684 | SCN4A | c.4589T>C (p.Phe1530Ser)
| |
17 | g.63941693A>T | CA400615685 | SCN4A | c.4589T>A (p.Phe1530Tyr)
| |
17 | g.63941694A>C | CA400615686 | SCN4A | c.4588T>G (p.Phe1530Val)
| |
17 | g.63941694A>G | CA400615687 | SCN4A | c.4588T>C (p.Phe1530Leu)
| |
17 | g.63941694A>T | CA400615688 | SCN4A | c.4588T>A (p.Phe1530Ile)
| |
17 | g.63941695C>A | CA501348372 | SCN4A | c.4587G>T (p.Leu1529=)
| |
17 | g.63941695C>G | CA501348373 | SCN4A | c.4587G>C (p.Leu1529=)
| |
17 | g.63941695C>T | CA501348374 | SCN4A | c.4587G>A (p.Leu1529=)
| |
17 | g.63941696A>C | CA400615689 | SCN4A | c.4586T>G (p.Leu1529Arg)
| |
17 | g.63941696A>G | CA400615690 | SCN4A | c.4586T>C (p.Leu1529Pro)
| |
17 | g.63941696A>T | CA400615691 | SCN4A | c.4586T>A (p.Leu1529Gln)
| |
17 | g.63941697G>A | CA501348376 | SCN4A | c.4585C>T (p.Leu1529=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941697G>C | CA400615693 | SCN4A | c.4585C>G (p.Leu1529Val)
| |
17 | g.63941697G= | CA2270161061 | SCN4A | c.4585C= (p.Leu1529=)
| |
17 | g.63941697G>T | CA400615692 | SCN4A | c.4585C>A (p.Leu1529Met)
| |
17 | g.63941698G>A | CA501348377 | SCN4A | c.4584C>T (p.Cys1528=)
| |
17 | g.63941698G>C | CA400615694 | SCN4A | c.4584C>G (p.Cys1528Trp)
| |
17 | g.63941698G= | CA2270161062 | SCN4A | c.4584C= (p.Cys1528=)
| |
17 | g.63941698G>T | CA400615695 | SCN4A | c.4584C>A (p.Cys1528Ter)
| dbSNP |
17 | g.63941700_63941708del | CA2639307163 | SCN4A | c.4576_4584del (p.Ile1526_Cys1528del)
| gnomAD v4 |
17 | g.63941699C>A | CA400615696 | SCN4A | c.4583G>T (p.Cys1528Phe)
| |
17 | g.63941699C>G | CA400615697 | SCN4A | c.4583G>C (p.Cys1528Ser)
| |
17 | g.63941699C>T | CA400615698 | SCN4A | c.4583G>A (p.Cys1528Tyr)
| |
17 | g.63941700A>C | CA400615699 | SCN4A | c.4582T>G (p.Cys1528Gly)
| gnomAD v4 |
17 | g.63941700A>G | CA400615700 | SCN4A | c.4582T>C (p.Cys1528Arg)
| |
17 | g.63941700A>T | CA400615701 | SCN4A | c.4582T>A (p.Cys1528Ser)
| |
17 | g.63941701G>A | CA501348379 | SCN4A | c.4581C>T (p.Ile1527=)
| dbSNP gnomAD v4 |
17 | g.63941701G>C | CA400615702 | SCN4A | c.4581C>G (p.Ile1527Met)
| |
17 | g.63941701G= | CA2270161063 | SCN4A | c.4581C= (p.Ile1527=)
| |
17 | g.63941701G>T | CA8708941 | SCN4A | c.4581C>A (p.Ile1527=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941702A= | CA2270161064 | SCN4A | c.4580T= (p.Ile1527=)
| |
17 | g.63941702A>C | CA400615703 | SCN4A | c.4580T>G (p.Ile1527Ser)
| |
17 | g.63941702A>G | CA400615704 | SCN4A | c.4580T>C (p.Ile1527Thr)
| dbSNP gnomAD v4 |
17 | g.63941702A>T | CA400615705 | SCN4A | c.4580T>A (p.Ile1527Asn)
| |
17 | g.63941703T>A | CA400615708 | SCN4A | c.4579A>T (p.Ile1527Phe)
| |
17 | g.63941703T>C | CA400615707 | SCN4A | c.4579A>G (p.Ile1527Val)
| |
17 | g.63941703T>G | CA400615706 | SCN4A | c.4579A>C (p.Ile1527Leu)
| |
17 | g.63941704G>A | CA501348380 | SCN4A | c.4578C>T (p.Ile1526=)
| |
17 | g.63941704G>C | CA400615709 | SCN4A | c.4578C>G (p.Ile1526Met)
| |
17 | g.63941704G>T | CA501348381 | SCN4A | c.4578C>A (p.Ile1526=)
| |
17 | g.63941705A>C | CA400615710 | SCN4A | c.4577T>G (p.Ile1526Ser)
| |
17 | g.63941705A>G | CA400615712 | SCN4A | c.4577T>C (p.Ile1526Thr)
| |
17 | g.63941705A>T | CA400615711 | SCN4A | c.4577T>A (p.Ile1526Asn)
| |
17 | g.63941706T>A | CA400615713 | SCN4A | c.4576A>T (p.Ile1526Phe)
| gnomAD v4 |
17 | g.63941706T>C | CA400615714 | SCN4A | c.4576A>G (p.Ile1526Val)
| dbSNP |
17 | g.63941706T>G | CA400615715 | SCN4A | c.4576A>C (p.Ile1526Leu)
| |
17 | g.63941706T= | CA2270161065 | SCN4A | c.4576A= (p.Ile1526=)
| |
17 | g.63941707G>A | CA501348382 | SCN4A | c.4575C>T (p.Ser1525=)
| |
17 | g.63941707G>C | CA400615716 | SCN4A | c.4575C>G (p.Ser1525Arg)
| |
17 | g.63941707G>T | CA400615717 | SCN4A | c.4575C>A (p.Ser1525Arg)
| COSMIC |
17 | g.63941708C>A | CA400615718 | SCN4A | c.4574G>T (p.Ser1525Ile)
| |
17 | g.63941708C>G | CA400615719 | SCN4A | c.4574G>C (p.Ser1525Thr)
| |
17 | g.63941708C>T | CA400615720 | SCN4A | c.4574G>A (p.Ser1525Asn)
| |
17 | g.63941709T>A | CA400615721 | SCN4A | c.4573A>T (p.Ser1525Cys)
| ClinVar |
17 | g.63941709T>C | CA400615722 | SCN4A | c.4573A>G (p.Ser1525Gly)
| |
17 | g.63941709T>G | CA400615723 | SCN4A | c.4573A>C (p.Ser1525Arg)
| |
17 | g.63941710G>A | CA501348386 | SCN4A | c.4572C>T (p.Asn1524=)
| |
17 | g.63941710G>C | CA400615725 | SCN4A | c.4572C>G (p.Asn1524Lys)
| gnomAD v4 |
17 | g.63941710G>T | CA400615724 | SCN4A | c.4572C>A (p.Asn1524Lys)
| |
17 | g.63941711T>A | CA400615726 | SCN4A | c.4571A>T (p.Asn1524Ile)
| |
17 | g.63941711T>C | CA8708942 | SCN4A | c.4571A>G (p.Asn1524Ser)
| dbSNP ExAC |
17 | g.63941711T>G | CA400615727 | SCN4A | c.4571A>C (p.Asn1524Thr)
| |
17 | g.63941711T= | CA2270161066 | SCN4A | c.4571A= (p.Asn1524=)
| |
17 | g.63941712T>A | CA400615728 | SCN4A | c.4570A>T (p.Asn1524Tyr)
| |
17 | g.63941712T>C | CA400615729 | SCN4A | c.4570A>G (p.Asn1524Asp)
| |
17 | g.63941712T>G | CA400615730 | SCN4A | c.4570A>C (p.Asn1524His)
| |
17 | g.63941713G>A | CA501348390 | SCN4A | c.4569C>T (p.Gly1523=)
| |
17 | g.63941713G>C | CA501348391 | SCN4A | c.4569C>G (p.Gly1523=)
| |
17 | g.63941713G= | CA2270161067 | SCN4A | c.4569C= (p.Gly1523=)
| |
17 | g.63941713G>T | CA501348393 | SCN4A | c.4569C>A (p.Gly1523=)
| dbSNP |
17 | g.63941714C>A | CA400615731 | SCN4A | c.4568G>T (p.Gly1523Val)
| |
17 | g.63941714C= | CA2270161068 | SCN4A | c.4568G= (p.Gly1523=)
| |
17 | g.63941714C>G | CA400615732 | SCN4A | c.4568G>C (p.Gly1523Ala)
| dbSNP |
17 | g.63941714C>T | CA400615733 | SCN4A | c.4568G>A (p.Gly1523Asp)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941715C>A | CA400615734 | SCN4A | c.4567G>T (p.Gly1523Cys)
| |
17 | g.63941715C= | CA2270161069 | SCN4A | c.4567G= (p.Gly1523=)
| |
17 | g.63941715C>G | CA400615735 | SCN4A | c.4567G>C (p.Gly1523Arg)
| |
17 | g.63941715C>T | CA8708943 | SCN4A | c.4567G>A (p.Gly1523Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941716G>A | CA8708944 | SCN4A | c.4566C>T (p.Phe1522=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941716G>C | CA400615737 | SCN4A | c.4566C>G (p.Phe1522Leu)
| |
17 | g.63941716G= | CA2270161070 | SCN4A | c.4566C= (p.Phe1522=)
| |
17 | g.63941716G>T | CA400615736 | SCN4A | c.4566C>A (p.Phe1522Leu)
| |
17 | g.63941717A>C | CA400615738 | SCN4A | c.4565T>G (p.Phe1522Cys)
| |
17 | g.63941717A>G | CA400615739 | SCN4A | c.4565T>C (p.Phe1522Ser)
| |
17 | g.63941717A>T | CA400615740 | SCN4A | c.4565T>A (p.Phe1522Tyr)
| |
17 | g.63941718A= | CA2270161071 | SCN4A | c.4564T= (p.Phe1522=)
| |
17 | g.63941718A>C | CA400615741 | SCN4A | c.4564T>G (p.Phe1522Val)
| ClinVar dbSNP |
17 | g.63941718A>G | CA400615742 | SCN4A | c.4564T>C (p.Phe1522Leu)
| |
17 | g.63941718A>T | CA400615743 | SCN4A | c.4564T>A (p.Phe1522Ile)
| |
17 | g.63941719G>A | CA501348398 | SCN4A | c.4563C>T (p.Thr1521=)
| gnomAD v3 gnomAD v4 |
17 | g.63941719G>C | CA501348399 | SCN4A | c.4563C>G (p.Thr1521=)
| ClinVar gnomAD v4 |
17 | g.63941719G>T | CA501348397 | SCN4A | c.4563C>A (p.Thr1521=)
| |
17 | g.63941720G>A | CA400615745 | SCN4A | c.4562C>T (p.Thr1521Ile)
| gnomAD v4 |
17 | g.63941720G>C | CA400615744 | SCN4A | c.4562C>G (p.Thr1521Ser)
| gnomAD v4 |
17 | g.63941720G= | CA2270161072 | SCN4A | c.4562C= (p.Thr1521=)
| |
17 | g.63941720G>T | CA8708945 | SCN4A | c.4562C>A (p.Thr1521Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941721T>A | CA400615746 | SCN4A | c.4561A>T (p.Thr1521Ser)
| |
17 | g.63941721T>C | CA400615747 | SCN4A | c.4561A>G (p.Thr1521Ala)
| |
17 | g.63941721T>G | CA400615748 | SCN4A | c.4561A>C (p.Thr1521Pro)
| |
17 | g.63941722C>A | CA400615749 | SCN4A | c.4560G>T (p.Glu1520Asp)
| |
17 | g.63941722C>G | CA400615750 | SCN4A | c.4560G>C (p.Glu1520Asp)
| |
17 | g.63941722C>T | CA501348401 | SCN4A | c.4560G>A (p.Glu1520=)
| |
17 | g.63941723T>A | CA400615751 | SCN4A | c.4559A>T (p.Glu1520Val)
| |
17 | g.63941723T>C | CA400615753 | SCN4A | c.4559A>G (p.Glu1520Gly)
| |
17 | g.63941723T>G | CA400615752 | SCN4A | c.4559A>C (p.Glu1520Ala)
| |
17 | g.63941724C>A | CA400615754 | SCN4A | c.4558G>T (p.Glu1520Ter)
| dbSNP |
17 | g.63941724C= | CA2270161073 | SCN4A | c.4558G= (p.Glu1520=)
| |
17 | g.63941724C>G | CA400615755 | SCN4A | c.4558G>C (p.Glu1520Gln)
| |
17 | g.63941724C>T | CA292957070 | SCN4A | c.4558G>A (p.Glu1520Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941725G>A | CA292957078 | SCN4A | c.4557C>T (p.Phe1519=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941725G>C | CA400615756 | SCN4A | c.4557C>G (p.Phe1519Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941725G= | CA2270161074 | SCN4A | c.4557C= (p.Phe1519=)
| |
17 | g.63941725G>T | CA400615757 | SCN4A | c.4557C>A (p.Phe1519Leu)
| ClinVar dbSNP |
17 | g.63941726A>C | CA400615758 | SCN4A | c.4556T>G (p.Phe1519Cys)
| |
17 | g.63941726A>G | CA400615759 | SCN4A | c.4556T>C (p.Phe1519Ser)
| gnomAD v4 |
17 | g.63941726A>T | CA400615760 | SCN4A | c.4556T>A (p.Phe1519Tyr)
| |
17 | g.63941727A>C | CA400615761 | SCN4A | c.4555T>G (p.Phe1519Val)
| |
17 | g.63941727A>G | CA400615762 | SCN4A | c.4555T>C (p.Phe1519Leu)
| |
17 | g.63941727A>T | CA400615763 | SCN4A | c.4555T>A (p.Phe1519Ile)
| ClinVar |
17 | g.63941728G>A | CA501348191 | SCN4A | c.4554C>T (p.Asn1518=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941728G>C | CA400615764 | SCN4A | c.4554C>G (p.Asn1518Lys)
| |
17 | g.63941728G= | CA2270161075 | SCN4A | c.4554C= (p.Asn1518=)
| |
17 | g.63941728G>T | CA400615765 | SCN4A | c.4554C>A (p.Asn1518Lys)
| |
17 | g.63941729T>A | CA400615767 | SCN4A | c.4553A>T (p.Asn1518Ile)
| |
17 | g.63941729T>C | CA400615768 | SCN4A | c.4553A>G (p.Asn1518Ser)
| gnomAD v4 |
17 | g.63941729T>G | CA400615766 | SCN4A | c.4553A>C (p.Asn1518Thr)
| |
17 | g.63941730T>A | CA400615769 | SCN4A | c.4552A>T (p.Asn1518Tyr)
| |
17 | g.63941730T>C | CA400615771 | SCN4A | c.4552A>G (p.Asn1518Asp)
| |
17 | g.63941730T>G | CA400615770 | SCN4A | c.4552A>C (p.Asn1518His)
| |
17 | g.63941731G>A | CA501348195 | SCN4A | c.4551C>T (p.Phe1517=)
| |
17 | g.63941731G>C | CA400615772 | SCN4A | c.4551C>G (p.Phe1517Leu)
| |
17 | g.63941731G= | CA2270161076 | SCN4A | c.4551C= (p.Phe1517=)
| |
17 | g.63941731G>T | CA400615773 | SCN4A | c.4551C>A (p.Phe1517Leu)
| |