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=)
| |
17 | g.63942996T>A | CA400616694 | SCN4A | c.4118A>T (p.Glu1373Val)
| |
17 | g.63942996T>C | CA400616695 | SCN4A | c.4118A>G (p.Glu1373Gly)
| |
17 | g.63942996T>G | CA400616696 | SCN4A | c.4118A>C (p.Glu1373Ala)
| |
17 | g.63942997C>A | CA400616697 | SCN4A | c.4117G>T (p.Glu1373Ter)
| dbSNP |
17 | g.63942997C= | CA2270161734 | SCN4A | c.4117G= (p.Glu1373=)
| |
17 | g.63942997C>G | CA400616698 | SCN4A | c.4117G>C (p.Glu1373Gln)
| ClinVar dbSNP |
17 | g.63942997C>T | CA400616699 | SCN4A | c.4117G>A (p.Glu1373Lys)
| |
17 | g.63942998C>A | CA501214893 | SCN4A | c.4116G>T (p.Val1372=)
| |
17 | g.63942998C= | CA2270161735 | SCN4A | c.4116G= (p.Val1372=)
| |
17 | g.63942998C>G | CA501214894 | SCN4A | c.4116G>C (p.Val1372=)
| |
17 | g.63942998C>T | CA8709049 | SCN4A | c.4116G>A (p.Val1372=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942999A= | CA2270161736 | SCN4A | c.4115T= (p.Val1372=)
| |
17 | g.63942999A>C | CA400616701 | SCN4A | c.4115T>G (p.Val1372Gly)
| |
17 | g.63942999A>G | CA400616702 | SCN4A | c.4115T>C (p.Val1372Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942999A>T | CA400616700 | SCN4A | c.4115T>A (p.Val1372Glu)
| |
17 | g.63943000C>A | CA400616703 | SCN4A | c.4114G>T (p.Val1372Leu)
| |
17 | g.63943000C= | CA2270161737 | SCN4A | c.4114G= (p.Val1372=)
| |
17 | g.63943000C>G | CA8709050 | SCN4A | c.4114G>C (p.Val1372Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63943000C>T | CA400616704 | SCN4A | c.4114G>A (p.Val1372Met)
| dbSNP gnomAD v4 |
17 | g.63943001C>A | CA400616705 | SCN4A | c.4113G>T (p.Met1371Ile)
| |
17 | g.63943001C>G | CA400616706 | SCN4A | c.4113G>C (p.Met1371Ile)
| |
17 | g.63943001C>T | CA400616707 | SCN4A | c.4113G>A (p.Met1371Ile)
| |
17 | g.63943002A>C | CA400616710 | SCN4A | c.4112T>G (p.Met1371Arg)
| |
17 | g.63943002A>G | CA400616708 | SCN4A | c.4112T>C (p.Met1371Thr)
| |
17 | g.63943002A>T | CA400616709 | SCN4A | c.4112T>A (p.Met1371Lys)
| |
17 | g.63943003T>A | CA400616711 | SCN4A | c.4111A>T (p.Met1371Leu)
| |
17 | g.63943003T>C | CA400616712 | SCN4A | c.4111A>G (p.Met1371Val)
| gnomAD v4 |
17 | g.63943003T>G | CA400616713 | SCN4A | c.4111A>C (p.Met1371Leu)
| |
17 | g.63943004C>A | CA400616717 | SCN4A | c.4110G>T (p.Met1370Ile)
| |
17 | g.63943004C>G | CA400616718 | SCN4A | c.4110G>C (p.Met1370Ile)
| |
17 | g.63943004C>T | CA400616719 | SCN4A | c.4110G>A (p.Met1370Ile)
| gnomAD v4 |
17 | g.63943005A= | CA2270161738 | SCN4A | c.4109T= (p.Met1370=)
| |
17 | g.63943005A>C | CA400616721 | SCN4A | c.4109T>G (p.Met1370Arg)
| |
17 | g.63943005A>G | CA400616722 | SCN4A | c.4109T>C (p.Met1370Thr)
| ClinVar dbSNP |
17 | g.63943005A>T | CA400616720 | SCN4A | c.4109T>A (p.Met1370Lys)
| |
17 | g.63943006T>A | CA400616723 | SCN4A | c.4108A>T (p.Met1370Leu)
| |
17 | g.63943006T>C | CA341673 | SCN4A | c.4108A>G (p.Met1370Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63943006T>G | CA400616724 | SCN4A | c.4108A>C (p.Met1370Leu)
| gnomAD v4 |
17 | g.63943006T= | CA2270161739 | SCN4A | c.4108A= (p.Met1370=)
| |
17 | g.63943007G>A | CA501215031 | SCN4A | c.4107C>T (p.Thr1369=)
| |
17 | g.63943007G>C | CA501215033 | SCN4A | c.4107C>G (p.Thr1369=)
| gnomAD v4 |
17 | g.63943007G>T | CA501215035 | SCN4A | c.4107C>A (p.Thr1369=)
| |
17 | g.63943008G>A | CA400616725 | SCN4A | c.4106C>T (p.Thr1369Ile)
| |
17 | g.63943008G>C | CA400616726 | SCN4A | c.4106C>G (p.Thr1369Ser)
| |
17 | g.63943008G= | CA2270161740 | SCN4A | c.4106C= (p.Thr1369=)
| |
17 | g.63943008G>T | CA8709051 | SCN4A | c.4106C>A (p.Thr1369Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63943009T>A | CA400616727 | SCN4A | c.4105A>T (p.Thr1369Ser)
| |
17 | g.63943009T>C | CA400616729 | SCN4A | c.4105A>G (p.Thr1369Ala)
| |
17 | g.63943009T>G | CA400616728 | SCN4A | c.4105A>C (p.Thr1369Pro)
| |
17 | g.63943010G>A | CA501215048 | SCN4A | c.4104C>T (p.Val1368=)
| |
17 | g.63943010G>C | CA501215049 | SCN4A | c.4104C>G (p.Val1368=)
| |
17 | g.63943010G>T | CA501215046 | SCN4A | c.4104C>A (p.Val1368=)
| |
17 | g.63943011A= | CA2270161741 | SCN4A | c.4103T= (p.Val1368=)
| |
17 | g.63943011A>C | CA400616730 | SCN4A | c.4103T>G (p.Val1368Gly)
| |
17 | g.63943011A>G | CA400616731 | SCN4A | c.4103T>C (p.Val1368Ala)
| |
17 | g.63943011A>T | CA400616732 | SCN4A | c.4103T>A (p.Val1368Asp)
| |
17 | g.63943012C>A | CA400616733 | SCN4A | c.4102G>T (p.Val1368Phe)
| |
17 | g.63943012C= | CA2270161742 | SCN4A | c.4102G= (p.Val1368=)
| |
17 | g.63943012C>G | CA400616734 | SCN4A | c.4102G>C (p.Val1368Leu)
| |
17 | g.63943012C>T | CA400616735 | SCN4A | c.4102G>A (p.Val1368Ile)
| dbSNP gnomAD v2 |
17 | g.63943013dup | CA774008075 | SCN4A | c.4102dup (p.Val1368GlyfsTer?)
| dbSNP |
17 | g.63943013C>A | CA400616736 | SCN4A | c.4101G>T (p.Met1367Ile)
| |
17 | g.63943013C>G | CA400616737 | SCN4A | c.4101G>C (p.Met1367Ile)
| |
17 | g.63943013C>T | CA400616738 | SCN4A | c.4101G>A (p.Met1367Ile)
| |
17 | g.63943014A= | CA2270161743 | SCN4A | c.4100T= (p.Met1367=)
| |
17 | g.63943014A>C | CA400616739 | SCN4A | c.4100T>G (p.Met1367Arg)
| |
17 | g.63943014A>G | CA400616740 | SCN4A | c.4100T>C (p.Met1367Thr)
| dbSNP gnomAD v4 |
17 | g.63943014A>T | CA400616741 | SCN4A | c.4100T>A (p.Met1367Lys)
| gnomAD v4 |
17 | g.63943015T>A | CA400616742 | SCN4A | c.4099A>T (p.Met1367Leu)
| |
17 | g.63943015T>C | CA8709052 | SCN4A | c.4099A>G (p.Met1367Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63943015T>G | CA400616743 | SCN4A | c.4099A>C (p.Met1367Leu)
| |
17 | g.63943015T= | CA2270161744 | SCN4A | c.4099A= (p.Met1367=)
| |
17 | g.63943016G>A | CA501215074 | SCN4A | c.4098C>T (p.Asn1366=)
| dbSNP |
17 | g.63943016G>C | CA400616744 | SCN4A | c.4098C>G (p.Asn1366Lys)
| |
17 | g.63943016G= | CA2270161745 | SCN4A | c.4098C= (p.Asn1366=)
| |
17 | g.63943016G>T | CA400616745 | SCN4A | c.4098C>A (p.Asn1366Lys)
| ClinVar dbSNP |
17 | g.63943017T>A | CA400616746 | SCN4A | c.4097A>T (p.Asn1366Ile)
| |
17 | g.63943017T>C | CA400616747 | SCN4A | c.4097A>G (p.Asn1366Ser)
| |
17 | g.63943017T>G | CA400616748 | SCN4A | c.4097A>C (p.Asn1366Thr)
| |
17 | g.63943018T>A | CA400616749 | SCN4A | c.4096A>T (p.Asn1366Tyr)
| |
17 | g.63943018T>C | CA400616750 | SCN4A | c.4096A>G (p.Asn1366Asp)
| |
17 | g.63943018T>G | CA400616751 | SCN4A | c.4096A>C (p.Asn1366His)
| |
17 | g.63943019G>A | CA501215088 | SCN4A | c.4095C>T (p.Leu1365=)
| |
17 | g.63943019G>C | CA501215091 | SCN4A | c.4095C>G (p.Leu1365=)
| |
17 | g.63943019G= | CA2270161746 | SCN4A | c.4095C= (p.Leu1365=)
| |
17 | g.63943019G>T | CA292958287 | SCN4A | c.4095C>A (p.Leu1365=)
| dbSNP |
17 | g.63943020A>C | CA400616753 | SCN4A | c.4094T>G (p.Leu1365Arg)
| |
17 | g.63943020A>G | CA400616754 | SCN4A | c.4094T>C (p.Leu1365Pro)
| |
17 | g.63943020A>T | CA400616752 | SCN4A | c.4094T>A (p.Leu1365His)
| |
17 | g.63943021G>A | CA400616755 | SCN4A | c.4093C>T (p.Leu1365Phe)
| |
17 | g.63943021G>C | CA400616756 | SCN4A | c.4093C>G (p.Leu1365Val)
| |
17 | g.63943021G>T | CA400616757 | SCN4A | c.4093C>A (p.Leu1365Ile)
| |
17 | g.63943022G>A | CA501215104 | SCN4A | c.4092C>T (p.Cys1364=)
| ClinVar |
17 | g.63943022G>C | CA400616758 | SCN4A | c.4092C>G (p.Cys1364Trp)
| |
17 | g.63943022G= | CA2270161747 | SCN4A | c.4092C= (p.Cys1364=)
| |
17 | g.63943022G>T | CA400616759 | SCN4A | c.4092C>A (p.Cys1364Ter)
| dbSNP |
17 | g.63943023C>A | CA400616762 | SCN4A | c.4091G>T (p.Cys1364Phe)
| |
17 | g.63943023C>G | CA400616760 | SCN4A | c.4091G>C (p.Cys1364Ser)
| |
17 | g.63943023C>T | CA400616761 | SCN4A | c.4091G>A (p.Cys1364Tyr)
| |
17 | g.63943024A>C | CA400616763 | SCN4A | c.4090T>G (p.Cys1364Gly)
| |
17 | g.63943024A>G | CA400616764 | SCN4A | c.4090T>C (p.Cys1364Arg)
| |
17 | g.63943024A>T | CA400616765 | SCN4A | c.4090T>A (p.Cys1364Ser)
| |
17 | g.63943025G>A | CA8709053 | SCN4A | c.4089C>T (p.Ile1363=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63943025G>C | CA400616766 | SCN4A | c.4089C>G (p.Ile1363Met)
| |
17 | g.63943025G= | CA2270161748 | SCN4A | c.4089C= (p.Ile1363=)
| |
17 | g.63943025G>T | CA501215122 | SCN4A | c.4089C>A (p.Ile1363=)
| gnomAD v4 |
17 | g.63943026A= | CA2270161749 | SCN4A | c.4088T= (p.Ile1363=)
| |
17 | g.63943026A>C | CA400616767 | SCN4A | c.4088T>G (p.Ile1363Ser)
| |
17 | g.63943026A>G | CA400616769 | SCN4A | c.4088T>C (p.Ile1363Thr)
| |
17 | g.63943026A>T | CA400616768 | SCN4A | c.4088T>A (p.Ile1363Asn)
| ClinVar dbSNP |
17 | g.63943027T>A | CA400616770 | SCN4A | c.4087A>T (p.Ile1363Phe)
| |
17 | g.63943027T>C | CA400616771 | SCN4A | c.4087A>G (p.Ile1363Val)
| |
17 | g.63943027T>G | CA400616772 | SCN4A | c.4087A>C (p.Ile1363Leu)
| |
17 | g.63943027_63943028delinsAT | CA915950730 | SCN4A | c.4086_4087delinsAT (p.Ile1363Phe)
| ClinVar dbSNP |
17 | g.63943027_63943028delinsTG | CA2270161750 | SCN4A | c.4086_4087delinsCA (p.Leu1362=)
| |
17 | g.63943028G>A | CA501215132 | SCN4A | c.4086C>T (p.Leu1362=)
| |
17 | g.63943028G>C | CA501215134 | SCN4A | c.4086C>G (p.Leu1362=)
| |
17 | g.63943028G>T | CA501215136 | SCN4A | c.4086C>A (p.Leu1362=)
| |
17 | g.63943029A>C | CA400616773 | SCN4A | c.4085T>G (p.Leu1362Arg)
| |
17 | g.63943029A>G | CA400616774 | SCN4A | c.4085T>C (p.Leu1362Pro)
| |
17 | g.63943029A>T | CA400616775 | SCN4A | c.4085T>A (p.Leu1362His)
| |
17 | g.63943030G>A | CA400616776 | SCN4A | c.4084C>T (p.Leu1362Phe)
| |
17 | g.63943030G>C | CA400616777 | SCN4A | c.4084C>G (p.Leu1362Val)
| |
17 | g.63943030G>T | CA400616778 | SCN4A | c.4084C>A (p.Leu1362Ile)
| COSMIC |
17 | g.63943031G>A | CA501215148 | SCN4A | c.4083C>T (p.Ile1361=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63943031G>C | CA400616779 | SCN4A | c.4083C>G (p.Ile1361Met)
| |
17 | g.63943031G= | CA2270161751 | SCN4A | c.4083C= (p.Ile1361=)
| |
17 | g.63943031G>T | CA8709054 | SCN4A | c.4083C>A (p.Ile1361=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63943032A= | CA2270161752 | SCN4A | c.4082T= (p.Ile1361=)
| |
17 | g.63943032A>C | CA400616781 | SCN4A | c.4082T>G (p.Ile1361Ser)
| |
17 | g.63943032A>G | CA400616780 | SCN4A | c.4082T>C (p.Ile1361Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63943032A>T | CA292958295 | SCN4A | c.4082T>A (p.Ile1361Asn)
| dbSNP gnomAD v4 |
17 | g.63943033T>A | CA400616782 | SCN4A | c.4081A>T (p.Ile1361Phe)
| dbSNP |
17 | g.63943033T>C | CA400616784 | SCN4A | c.4081A>G (p.Ile1361Val)
| gnomAD v4 |
17 | g.63943033T>G | CA400616783 | SCN4A | c.4081A>C (p.Ile1361Leu)
| |
17 | g.63943033T= | CA2270161753 | SCN4A | c.4081A= (p.Ile1361=)
| |
17 | g.63943034C>A | CA292958296 | SCN4A | c.4080G>T (p.Met1360Ile)
| ClinVar dbSNP gnomAD v4 |
17 | g.63943034C= | CA2270161754 | SCN4A | c.4080G= (p.Met1360=)
| |
17 | g.63943034C>G | CA292958299 | SCN4A | c.4080G>C (p.Met1360Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63943034C>T | CA400616785 | SCN4A | c.4080G>A (p.Met1360Ile)
| |
17 | g.63943035A>C | CA400616786 | SCN4A | c.4079T>G (p.Met1360Arg)
| |
17 | g.63943035A>G | CA400616787 | SCN4A | c.4079T>C (p.Met1360Thr)
| |
17 | g.63943035A>T | CA400616788 | SCN4A | c.4079T>A (p.Met1360Lys)
| |
17 | g.63943035_63943041delinsATGATGG | CA2270161755 | SCN4A | c.4073_4079delinsCCATCAT (p.Thr1358=)
| |
17 | g.63943036T>A | CA400616789 | SCN4A | c.4078A>T (p.Met1360Leu)
| |
17 | g.63943036T>C | CA341671 | SCN4A | c.4078A>G (p.Met1360Val)
| ClinVar dbSNP gnomAD v4 |
17 | g.63943036T>G | CA400616790 | SCN4A | c.4078A>C (p.Met1360Leu)
| |
17 | g.63943036T= | CA2270161756 | SCN4A | c.4078A= (p.Met1360=)
| |
17 | g.63943041_63943046del | CA774008115 | SCN4A | c.4073_4078del (p.Thr1358_Ile1359del)
| dbSNP |
17 | g.63943037G>A | CA501215175 | SCN4A | c.4077C>T (p.Ile1359=)
| |
17 | g.63943037G>C | CA400616791 | SCN4A | c.4077C>G (p.Ile1359Met)
| ClinVar dbSNP |
17 | g.63943037G= | CA2270161758 | SCN4A | c.4077C= (p.Ile1359=)
| |
17 | g.63943037G>T | CA501215178 | SCN4A | c.4077C>A (p.Ile1359=)
| |
17 | g.63943037_63943039delinsGAT | CA2270161757 | SCN4A | c.4075_4077delinsATC (p.Ile1359=)
| |
17 | g.63943038A>C | CA400616794 | SCN4A | c.4076T>G (p.Ile1359Ser)
| |
17 | g.63943038A>G | CA400616793 | SCN4A | c.4076T>C (p.Ile1359Thr)
| |
17 | g.63943038A>T | CA400616792 | SCN4A | c.4076T>A (p.Ile1359Asn)
| |
17 | g.63943038_63943039del | CA8709055 | SCN4A | c.4075_4076del (p.Ile1359HisfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63943039T>A | CA400616795 | SCN4A | c.4075A>T (p.Ile1359Phe)
| gnomAD v4 |
17 | g.63943039T>C | CA400616796 | SCN4A | c.4075A>G (p.Ile1359Val)
| |
17 | g.63943039T>G | CA400616797 | SCN4A | c.4075A>C (p.Ile1359Leu)
| |
17 | g.63943040G>A | CA501215190 | SCN4A | c.4074C>T (p.Thr1358=)
| |
17 | g.63943040G>C | CA501215192 | SCN4A | c.4074C>G (p.Thr1358=)
| |
17 | g.63943040G>T | CA501215194 | SCN4A | c.4074C>A (p.Thr1358=)
| |
17 | g.63943041G>A | CA400616798 | SCN4A | c.4073C>T (p.Thr1358Ile)
| |
17 | g.63943041G>C | CA400616799 | SCN4A | c.4073C>G (p.Thr1358Ser)
| |
17 | g.63943041G= | CA2270161759 | SCN4A | c.4073C= (p.Thr1358=)
| |
17 | g.63943041G>T | CA8709056 | SCN4A | c.4073C>A (p.Thr1358Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63943042T>A | CA400616800 | SCN4A | c.4072A>T (p.Thr1358Ser)
| |
17 | g.63943042T>C | CA400616801 | SCN4A | c.4072A>G (p.Thr1358Ala)
| |
17 | g.63943042T>G | CA400616802 | SCN4A | c.4072A>C (p.Thr1358Pro)
| |
17 | g.63943043G>A | CA501215206 | SCN4A | c.4071C>T (p.Ile1357=)
| |
17 | g.63943043G>C | CA400616803 | SCN4A | c.4071C>G (p.Ile1357Met)
| |
17 | g.63943043G>T | CA501215209 | SCN4A | c.4071C>A (p.Ile1357=)
| |
17 | g.63943044A>C | CA400616805 | SCN4A | c.4070T>G (p.Ile1357Ser)
| |
17 | g.63943044A>G | CA400616806 | SCN4A | c.4070T>C (p.Ile1357Thr)
| |
17 | g.63943044A>T | CA400616804 | SCN4A | c.4070T>A (p.Ile1357Asn)
| gnomAD v4 |
17 | g.63943045T>A | CA400616807 | SCN4A | c.4069A>T (p.Ile1357Phe)
| gnomAD v4 |
17 | g.63943045T>C | CA400616808 | SCN4A | c.4069A>G (p.Ile1357Val)
| gnomAD v4 |
17 | g.63943045T>G | CA400616809 | SCN4A | c.4069A>C (p.Ile1357Leu)
| ClinVar dbSNP |
17 | g.63943045T= | CA2270161760 | SCN4A | c.4069A= (p.Ile1357=)
| |