17 | g.63945577A= | CA2270162703 | SCN4A | c.3503T= (p.Leu1168=)
| |
17 | g.63945577A>C | CA400618486 | SCN4A | c.3503T>G (p.Leu1168Arg)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945577A>G | CA400618488 | SCN4A | c.3503T>C (p.Leu1168Pro)
| |
17 | g.63945577A>T | CA400618477 | SCN4A | c.3503T>A (p.Leu1168His)
| |
17 | g.63945578G>A | CA400618491 | SCN4A | c.3502C>T (p.Leu1168Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945578G>C | CA400618494 | SCN4A | c.3502C>G (p.Leu1168Val)
| |
17 | g.63945578G= | CA2270162705 | SCN4A | c.3502C= (p.Leu1168=)
| |
17 | g.63945578G>T | CA292961722 | SCN4A | c.3502C>A (p.Leu1168Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945579del | CA2695226828 | SCN4A | c.3502del (p.Leu1168SerfsTer5)
| |
17 | g.63945579G>A | CA501219054 | SCN4A | c.3501C>T (p.Cys1167=)
| |
17 | g.63945579G>C | CA400618499 | SCN4A | c.3501C>G (p.Cys1167Trp)
| |
17 | g.63945579G= | CA2270162707 | SCN4A | c.3501C= (p.Cys1167=)
| |
17 | g.63945579G>T | CA400618507 | SCN4A | c.3501C>A (p.Cys1167Ter)
| dbSNP |
17 | g.63945580C>A | CA400618518 | SCN4A | c.3500G>T (p.Cys1167Phe)
| |
17 | g.63945580C>G | CA400618515 | SCN4A | c.3500G>C (p.Cys1167Ser)
| |
17 | g.63945580C>T | CA400618512 | SCN4A | c.3500G>A (p.Cys1167Tyr)
| COSMIC |
17 | g.63945581A>C | CA400618523 | SCN4A | c.3499T>G (p.Cys1167Gly)
| |
17 | g.63945581A>G | CA400618526 | SCN4A | c.3499T>C (p.Cys1167Arg)
| |
17 | g.63945581A>T | CA400618529 | SCN4A | c.3499T>A (p.Cys1167Ser)
| |
17 | g.63945582G>A | CA501219064 | SCN4A | c.3498C>T (p.Val1166=)
| |
17 | g.63945582G>C | CA501219066 | SCN4A | c.3498C>G (p.Val1166=)
| dbSNP gnomAD v4 |
17 | g.63945582G= | CA2270162708 | SCN4A | c.3498C= (p.Val1166=)
| |
17 | g.63945582G>T | CA501219068 | SCN4A | c.3498C>A (p.Val1166=)
| |
17 | g.63945583A>C | CA400618532 | SCN4A | c.3497T>G (p.Val1166Gly)
| |
17 | g.63945583A>G | CA400618537 | SCN4A | c.3497T>C (p.Val1166Ala)
| ClinVar dbSNP |
17 | g.63945583A>T | CA400618540 | SCN4A | c.3497T>A (p.Val1166Asp)
| |
17 | g.63945584C>A | CA400618545 | SCN4A | c.3496G>T (p.Val1166Phe)
| |
17 | g.63945584C>G | CA400618551 | SCN4A | c.3496G>C (p.Val1166Leu)
| |
17 | g.63945584C>T | CA400618549 | SCN4A | c.3496G>A (p.Val1166Ile)
| gnomAD v4 |
17 | g.63945585A>C | CA501219077 | SCN4A | c.3495T>G (p.Leu1165=)
| |
17 | g.63945585A>G | CA501219080 | SCN4A | c.3495T>C (p.Leu1165=)
| |
17 | g.63945585A>T | CA501219082 | SCN4A | c.3495T>A (p.Leu1165=)
| |
17 | g.63945586A>C | CA400618555 | SCN4A | c.3494T>G (p.Leu1165Arg)
| |
17 | g.63945586A>G | CA400618557 | SCN4A | c.3494T>C (p.Leu1165Pro)
| |
17 | g.63945586A>T | CA400618559 | SCN4A | c.3494T>A (p.Leu1165His)
| |
17 | g.63945587G>A | CA400618561 | SCN4A | c.3493C>T (p.Leu1165Phe)
| |
17 | g.63945587G>C | CA400618563 | SCN4A | c.3493C>G (p.Leu1165Val)
| |
17 | g.63945587G>T | CA400618566 | SCN4A | c.3493C>A (p.Leu1165Ile)
| |
17 | g.63945588C>A | CA501219092 | SCN4A | c.3492G>T (p.Leu1164=)
| |
17 | g.63945588C= | CA2270162710 | SCN4A | c.3492G= (p.Leu1164=)
| |
17 | g.63945588C>G | CA501219093 | SCN4A | c.3492G>C (p.Leu1164=)
| |
17 | g.63945588C>T | CA501219095 | SCN4A | c.3492G>A (p.Leu1164=)
| dbSNP |
17 | g.63945589A= | CA2270162711 | SCN4A | c.3491T= (p.Leu1164=)
| |
17 | g.63945589A>C | CA400618571 | SCN4A | c.3491T>G (p.Leu1164Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945589A>G | CA400618573 | SCN4A | c.3491T>C (p.Leu1164Pro)
| ClinVar dbSNP |
17 | g.63945589A>T | CA400618577 | SCN4A | c.3491T>A (p.Leu1164Gln)
| |
17 | g.63945590G>A | CA501219101 | SCN4A | c.3490C>T (p.Leu1164=)
| gnomAD v4 |
17 | g.63945590G>C | CA400618581 | SCN4A | c.3490C>G (p.Leu1164Val)
| |
17 | g.63945590G= | CA2270162713 | SCN4A | c.3490C= (p.Leu1164=)
| |
17 | g.63945590G>T | CA8709248 | SCN4A | c.3490C>A (p.Leu1164Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945591C>A | CA501219102 | SCN4A | c.3489G>T (p.Val1163=)
| |
17 | g.63945591C>G | CA501219103 | SCN4A | c.3489G>C (p.Val1163=)
| |
17 | g.63945591C>T | CA501219104 | SCN4A | c.3489G>A (p.Val1163=)
| |
17 | g.63945592A>C | CA400618590 | SCN4A | c.3488T>G (p.Val1163Gly)
| |
17 | g.63945592A>G | CA400618596 | SCN4A | c.3488T>C (p.Val1163Ala)
| |
17 | g.63945592A>T | CA400618593 | SCN4A | c.3488T>A (p.Val1163Glu)
| |
17 | g.63945593C>A | CA400618601 | SCN4A | c.3487G>T (p.Val1163Leu)
| |
17 | g.63945593C>G | CA400618606 | SCN4A | c.3487G>C (p.Val1163Leu)
| |
17 | g.63945593C>T | CA400618603 | SCN4A | c.3487G>A (p.Val1163Met)
| ClinVar |
17 | g.63945594A>C | CA400618612 | SCN4A | c.3486T>G (p.Asn1162Lys)
| |
17 | g.63945594A>G | CA501219105 | SCN4A | c.3486T>C (p.Asn1162=)
| |
17 | g.63945594A>T | CA400618615 | SCN4A | c.3486T>A (p.Asn1162Lys)
| |
17 | g.63945595T>A | CA400618618 | SCN4A | c.3485A>T (p.Asn1162Ile)
| |
17 | g.63945595T>C | CA400618623 | SCN4A | c.3485A>G (p.Asn1162Ser)
| COSMIC |
17 | g.63945595T>G | CA400618621 | SCN4A | c.3485A>C (p.Asn1162Thr)
| |
17 | g.63945596T>A | CA400618626 | SCN4A | c.3484A>T (p.Asn1162Tyr)
| |
17 | g.63945596T>C | CA400618629 | SCN4A | c.3484A>G (p.Asn1162Asp)
| |
17 | g.63945596T>G | CA400618632 | SCN4A | c.3484A>C (p.Asn1162His)
| |
17 | g.63945597C>A | CA400618637 | SCN4A | c.3483G>T (p.Met1161Ile)
| COSMIC |
17 | g.63945597C>G | CA400618640 | SCN4A | c.3483G>C (p.Met1161Ile)
| |
17 | g.63945597C>T | CA400618642 | SCN4A | c.3483G>A (p.Met1161Ile)
| |
17 | g.63945598A= | CA2270162714 | SCN4A | c.3482T= (p.Met1161=)
| |
17 | g.63945598A>C | CA400618647 | SCN4A | c.3482T>G (p.Met1161Arg)
| |
17 | g.63945598A>G | CA400618649 | SCN4A | c.3482T>C (p.Met1161Thr)
| dbSNP gnomAD v4 |
17 | g.63945598A>T | CA400618652 | SCN4A | c.3482T>A (p.Met1161Lys)
| |
17 | g.63945599T>A | CA400618654 | SCN4A | c.3481A>T (p.Met1161Leu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945599T>C | CA8709249 | SCN4A | c.3481A>G (p.Met1161Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945599T>G | CA400618658 | SCN4A | c.3481A>C (p.Met1161Leu)
| |
17 | g.63945599T= | CA2270162984 | SCN4A | c.3481A= (p.Met1161=)
| |
17 | g.63945600G>A | CA501219106 | SCN4A | c.3480C>T (p.Ile1160=)
| gnomAD v4 |
17 | g.63945600G>C | CA400618662 | SCN4A | c.3480C>G (p.Ile1160Met)
| dbSNP |
17 | g.63945600G= | CA2270162985 | SCN4A | c.3480C= (p.Ile1160=)
| |
17 | g.63945600G>T | CA501219107 | SCN4A | c.3480C>A (p.Ile1160=)
| |
17 | g.63945601A>C | CA400618666 | SCN4A | c.3479T>G (p.Ile1160Ser)
| |
17 | g.63945601A>G | CA400618672 | SCN4A | c.3479T>C (p.Ile1160Thr)
| |
17 | g.63945601A>T | CA400618668 | SCN4A | c.3479T>A (p.Ile1160Asn)
| |
17 | g.63945602T>A | CA400618676 | SCN4A | c.3478A>T (p.Ile1160Phe)
| gnomAD v4 |
17 | g.63945602T>C | CA117843 | SCN4A | c.3478A>G (p.Ile1160Val)
| ClinVar dbSNP |
17 | g.63945602T>G | CA400618681 | SCN4A | c.3478A>C (p.Ile1160Leu)
| |
17 | g.63945602T= | CA2270162986 | SCN4A | c.3478A= (p.Ile1160=)
| |
17 | g.63945603G>A | CA501219108 | SCN4A | c.3477C>T (p.Ser1159=)
| |
17 | g.63945603G>C | CA501219109 | SCN4A | c.3477C>G (p.Ser1159=)
| |
17 | g.63945603G>T | CA501219110 | SCN4A | c.3477C>A (p.Ser1159=)
| |
17 | g.63945604G>A | CA400618683 | SCN4A | c.3476C>T (p.Ser1159Phe)
| |
17 | g.63945604G>C | CA400618684 | SCN4A | c.3476C>G (p.Ser1159Cys)
| |
17 | g.63945604G>T | CA400618685 | SCN4A | c.3476C>A (p.Ser1159Tyr)
| |
17 | g.63945605A>C | CA400618686 | SCN4A | c.3475T>G (p.Ser1159Ala)
| |
17 | g.63945605A>G | CA400618687 | SCN4A | c.3475T>C (p.Ser1159Pro)
| ClinVar |
17 | g.63945605A>T | CA400618689 | SCN4A | c.3475T>A (p.Ser1159Thr)
| |
17 | g.63945606G>A | CA501219111 | SCN4A | c.3474C>T (p.Pro1158=)
| |
17 | g.63945606G>C | CA501219112 | SCN4A | c.3474C>G (p.Pro1158=)
| |
17 | g.63945606G>T | CA501219113 | SCN4A | c.3474C>A (p.Pro1158=)
| |
17 | g.63945607G>A | CA400618699 | SCN4A | c.3473C>T (p.Pro1158Leu)
| ClinVar dbSNP |
17 | g.63945607G>C | CA400618696 | SCN4A | c.3473C>G (p.Pro1158Arg)
| |
17 | g.63945607G= | CA2270162987 | SCN4A | c.3473C= (p.Pro1158=)
| |
17 | g.63945607G>T | CA400618692 | SCN4A | c.3473C>A (p.Pro1158His)
| |
17 | g.63945608G>A | CA253655 | SCN4A | c.3472C>T (p.Pro1158Ser)
| ClinVar dbSNP |
17 | g.63945608G>C | CA400618704 | SCN4A | c.3472C>G (p.Pro1158Ala)
| |
17 | g.63945608G= | CA2270162988 | SCN4A | c.3472C= (p.Pro1158=)
| |
17 | g.63945608G>T | CA400618707 | SCN4A | c.3472C>A (p.Pro1158Thr)
| |
17 | g.63945609G>A | CA501219114 | SCN4A | c.3471C>T (p.Ile1157=)
| gnomAD v4 |
17 | g.63945609G>C | CA400618710 | SCN4A | c.3471C>G (p.Ile1157Met)
| dbSNP |
17 | g.63945609G= | CA2270162989 | SCN4A | c.3471C= (p.Ile1157=)
| |
17 | g.63945609G>T | CA501219115 | SCN4A | c.3471C>A (p.Ile1157=)
| |
17 | g.63945610A= | CA2270162990 | SCN4A | c.3470T= (p.Ile1157=)
| |
17 | g.63945610A>C | CA400618715 | SCN4A | c.3470T>G (p.Ile1157Ser)
| |
17 | g.63945610A>G | CA400618718 | SCN4A | c.3470T>C (p.Ile1157Thr)
| dbSNP |
17 | g.63945610A>T | CA400618722 | SCN4A | c.3470T>A (p.Ile1157Asn)
| ClinVar dbSNP |
17 | g.63945611T>A | CA400618726 | SCN4A | c.3469A>T (p.Ile1157Phe)
| |
17 | g.63945611T>C | CA400618729 | SCN4A | c.3469A>G (p.Ile1157Val)
| |
17 | g.63945611T>G | CA400618732 | SCN4A | c.3469A>C (p.Ile1157Leu)
| |
17 | g.63945612G>A | CA501219116 | SCN4A | c.3468C>T (p.Ala1156=)
| |
17 | g.63945612G>C | CA501219118 | SCN4A | c.3468C>G (p.Ala1156=)
| |
17 | g.63945612G>T | CA501219117 | SCN4A | c.3468C>A (p.Ala1156=)
| |
17 | g.63945613G>A | CA400618739 | SCN4A | c.3467C>T (p.Ala1156Val)
| gnomAD v4 |
17 | g.63945613G>C | CA400618743 | SCN4A | c.3467C>G (p.Ala1156Gly)
| |
17 | g.63945613G>T | CA400618746 | SCN4A | c.3467C>A (p.Ala1156Asp)
| |
17 | g.63945614C>A | CA8709250 | SCN4A | c.3466G>T (p.Ala1156Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945614C= | CA2270162991 | SCN4A | c.3466G= (p.Ala1156=)
| |
17 | g.63945614C>G | CA400618751 | SCN4A | c.3466G>C (p.Ala1156Pro)
| |
17 | g.63945614C>T | CA117837 | SCN4A | c.3466G>A (p.Ala1156Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945615G>A | CA8709251 | SCN4A | c.3465C>T (p.Gly1155=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63945615G>C | CA501219119 | SCN4A | c.3465C>G (p.Gly1155=)
| |
17 | g.63945615G= | CA2270162992 | SCN4A | c.3465C= (p.Gly1155=)
| |
17 | g.63945615G>T | CA501219120 | SCN4A | c.3465C>A (p.Gly1155=)
| |
17 | g.63945616C>A | CA400618760 | SCN4A | c.3464G>T (p.Gly1155Val)
| |
17 | g.63945616C>G | CA400618764 | SCN4A | c.3464G>C (p.Gly1155Ala)
| |
17 | g.63945616C>T | CA400618767 | SCN4A | c.3464G>A (p.Gly1155Asp)
| |
17 | g.63945617C>A | CA400618768 | SCN4A | c.3463G>T (p.Gly1155Cys)
| |
17 | g.63945617C>G | CA400618769 | SCN4A | c.3463G>C (p.Gly1155Arg)
| |
17 | g.63945617C>T | CA400618770 | SCN4A | c.3463G>A (p.Gly1155Ser)
| |
17 | g.63945618T>A | CA501219121 | SCN4A | c.3462A>T (p.Leu1154=)
| |
17 | g.63945618T>C | CA501219122 | SCN4A | c.3462A>G (p.Leu1154=)
| |
17 | g.63945618T>G | CA501219123 | SCN4A | c.3462A>C (p.Leu1154=)
| |
17 | g.63945619A>C | CA400618772 | SCN4A | c.3461T>G (p.Leu1154Arg)
| |
17 | g.63945619A>G | CA400618775 | SCN4A | c.3461T>C (p.Leu1154Pro)
| |
17 | g.63945619A>T | CA400618778 | SCN4A | c.3461T>A (p.Leu1154Gln)
| |
17 | g.63945620G>A | CA501219124 | SCN4A | c.3460C>T (p.Leu1154=)
| |
17 | g.63945620G>C | CA400618783 | SCN4A | c.3460C>G (p.Leu1154Val)
| |
17 | g.63945620G>T | CA400618786 | SCN4A | c.3460C>A (p.Leu1154Ile)
| |
17 | g.63945621G>A | CA501219126 | SCN4A | c.3459C>T (p.Leu1153=)
| |
17 | g.63945621G>C | CA8709252 | SCN4A | c.3459C>G (p.Leu1153=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945621G= | CA2270162993 | SCN4A | c.3459C= (p.Leu1153=)
| |
17 | g.63945621G>T | CA501219125 | SCN4A | c.3459C>A (p.Leu1153=)
| |
17 | g.63945622A>C | CA400618795 | SCN4A | c.3458T>G (p.Leu1153Arg)
| |
17 | g.63945622A>G | CA400618792 | SCN4A | c.3458T>C (p.Leu1153Pro)
| |
17 | g.63945622A>T | CA400618798 | SCN4A | c.3458T>A (p.Leu1153His)
| |
17 | g.63945623G>A | CA400618803 | SCN4A | c.3457C>T (p.Leu1153Phe)
| |
17 | g.63945623G>C | CA400618805 | SCN4A | c.3457C>G (p.Leu1153Val)
| |
17 | g.63945623G= | CA2270162994 | SCN4A | c.3457C= (p.Leu1153=)
| |
17 | g.63945623G>T | CA400618808 | SCN4A | c.3457C>A (p.Leu1153Ile)
| dbSNP |
17 | g.63945624G>A | CA501219127 | SCN4A | c.3456C>T (p.Ala1152=)
| gnomAD v4 |
17 | g.63945624G>C | CA501219128 | SCN4A | c.3456C>G (p.Ala1152=)
| |
17 | g.63945624G= | CA2270162995 | SCN4A | c.3456C= (p.Ala1152=)
| |
17 | g.63945624G>T | CA8709253 | SCN4A | c.3456C>A (p.Ala1152=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945625G>A | CA400618811 | SCN4A | c.3455C>T (p.Ala1152Val)
| |
17 | g.63945625G>C | CA400618812 | SCN4A | c.3455C>G (p.Ala1152Gly)
| |
17 | g.63945625G>T | CA400618813 | SCN4A | c.3455C>A (p.Ala1152Asp)
| ClinVar |
17 | g.63945626C>A | CA400618816 | SCN4A | c.3454G>T (p.Ala1152Ser)
| |
17 | g.63945626C>G | CA400618819 | SCN4A | c.3454G>C (p.Ala1152Pro)
| |
17 | g.63945626C>T | CA400618822 | SCN4A | c.3454G>A (p.Ala1152Thr)
| ClinVar gnomAD v4 |
17 | g.63945627G>A | CA8709254 | SCN4A | c.3453C>T (p.Asn1151=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63945627G>C | CA400618829 | SCN4A | c.3453C>G (p.Asn1151Lys)
| |
17 | g.63945627G= | CA2270162996 | SCN4A | c.3453C= (p.Asn1151=)
| |
17 | g.63945627G>T | CA400618832 | SCN4A | c.3453C>A (p.Asn1151Lys)
| |
17 | g.63945628T>A | CA400618838 | SCN4A | c.3452A>T (p.Asn1151Ile)
| gnomAD v4 |
17 | g.63945628T>C | CA400618847 | SCN4A | c.3452A>G (p.Asn1151Ser)
| gnomAD v4 |
17 | g.63945628T>G | CA400618841 | SCN4A | c.3452A>C (p.Asn1151Thr)
| |
17 | g.63945629T>A | CA400618851 | SCN4A | c.3451A>T (p.Asn1151Tyr)
| |
17 | g.63945629T>C | CA400618854 | SCN4A | c.3451A>G (p.Asn1151Asp)
| |
17 | g.63945629T>G | CA400618856 | SCN4A | c.3451A>C (p.Asn1151His)
| |
17 | g.63945630C>A | CA501219130 | SCN4A | c.3450G>T (p.Val1150=)
| |
17 | g.63945630C>G | CA501219131 | SCN4A | c.3450G>C (p.Val1150=)
| |
17 | g.63945630C>T | CA501219132 | SCN4A | c.3450G>A (p.Val1150=)
| COSMIC |
17 | g.63945631A= | CA2270162997 | SCN4A | c.3449T= (p.Val1150=)
| |
17 | g.63945631A>C | CA400618861 | SCN4A | c.3449T>G (p.Val1150Gly)
| dbSNP |
17 | g.63945631A>G | CA400618863 | SCN4A | c.3449T>C (p.Val1150Ala)
| gnomAD v4 |
17 | g.63945631A>T | CA400618866 | SCN4A | c.3449T>A (p.Val1150Glu)
| |
17 | g.63945632C>A | CA400618869 | SCN4A | c.3448G>T (p.Val1150Leu)
| |
17 | g.63945632C= | CA2270162998 | SCN4A | c.3448G= (p.Val1150=)
| |
17 | g.63945632C>G | CA400618873 | SCN4A | c.3448G>C (p.Val1150Leu)
| |
17 | g.63945632C>T | CA400618878 | SCN4A | c.3448G>A (p.Val1150Met)
| dbSNP |
17 | g.63945633C>A | CA501219133 | SCN4A | c.3447G>T (p.Val1149=)
| |
17 | g.63945633C= | CA2270162999 | SCN4A | c.3447G= (p.Val1149=)
| |
17 | g.63945633C>G | CA501219134 | SCN4A | c.3447G>C (p.Val1149=)
| |
17 | g.63945633C>T | CA8709255 | SCN4A | c.3447G>A (p.Val1149=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945634A= | CA2270163000 | SCN4A | c.3446T= (p.Val1149=)
| |
17 | g.63945634A>C | CA400618888 | SCN4A | c.3446T>G (p.Val1149Gly)
| dbSNP |
17 | g.63945634A>G | CA400618886 | SCN4A | c.3446T>C (p.Val1149Ala)
| |
17 | g.63945634A>T | CA400618883 | SCN4A | c.3446T>A (p.Val1149Glu)
| |
17 | g.63945635C>A | CA400618893 | SCN4A | c.3445G>T (p.Val1149Leu)
| ClinVar dbSNP |
17 | g.63945635C= | CA2270163001 | SCN4A | c.3445G= (p.Val1149=)
| |
17 | g.63945635C>G | CA400618898 | SCN4A | c.3445G>C (p.Val1149Leu)
| |
17 | g.63945635C>T | CA400618901 | SCN4A | c.3445G>A (p.Val1149Met)
| |
17 | g.63945636C>A | CA501219135 | SCN4A | c.3444G>T (p.Val1148=)
| |
17 | g.63945636C= | CA2270163002 | SCN4A | c.3444G= (p.Val1148=)
| |
17 | g.63945636C>G | CA501219136 | SCN4A | c.3444G>C (p.Val1148=)
| |
17 | g.63945636C>T | CA501219137 | SCN4A | c.3444G>A (p.Val1148=)
| dbSNP |
17 | g.63945637A= | CA2270163003 | SCN4A | c.3443T= (p.Val1148=)
| |
17 | g.63945637A>C | CA400618906 | SCN4A | c.3443T>G (p.Val1148Gly)
| |
17 | g.63945637A>G | CA400618908 | SCN4A | c.3443T>C (p.Val1148Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945637A>T | CA400618913 | SCN4A | c.3443T>A (p.Val1148Glu)
| |
17 | g.63945638C>A | CA400618918 | SCN4A | c.3442G>T (p.Val1148Leu)
| |
17 | g.63945638C= | CA2270163004 | SCN4A | c.3442G= (p.Val1148=)
| |
17 | g.63945638C>G | CA400618921 | SCN4A | c.3442G>C (p.Val1148Leu)
| |
17 | g.63945638C>T | CA400618924 | SCN4A | c.3442G>A (p.Val1148Met)
| dbSNP gnomAD v4 |
17 | g.63945639C>A | CA400618928 | SCN4A | c.3442-1G>T (n.3442-1G>T)
| |
17 | g.63945639C= | CA2270163005 | SCN4A | c.3442-1G= (n.3442-1G=)
| |
17 | g.63945639C>G | CA400618931 | SCN4A | c.3442-1G>C (n.3442-1G>C)
| |
17 | g.63945639C>T | CA400618933 | SCN4A | c.3442-1G>A (n.3442-1G>A)
| dbSNP gnomAD v4 |
17 | g.63945640T>A | CA400618942 | SCN4A | c.3442-2A>T (n.3442-2A>T)
| |
17 | g.63945640T>C | CA400618940 | SCN4A | c.3442-2A>G (n.3442-2A>G)
| |
17 | g.63945640T>G | CA400618937 | SCN4A | c.3442-2A>C (n.3442-2A>C)
| |
17 | g.63945641G>A | CA2499224832 | SCN4A | c.3442-3C>T (n.3442-3C>T)
| ClinVar dbSNP gnomAD v4 |
17 | g.63945641G>T | CA2543725783 | SCN4A | c.3442-3C>A (n.3442-3C>A)
| |
17 | g.63945643G>C | CA2270163007 | SCN4A | c.3442-5C>G (n.3442-5C>G)
| dbSNP |
17 | g.63945643G= | CA2270163006 | SCN4A | c.3442-5C= (n.3442-5C=)
| |
17 | g.63945644G>A | CA2576355622 | SCN4A | c.3442-6C>T (n.3442-6C>T)
| |
17 | g.63945645G>A | CA2639312411 | SCN4A | c.3442-7C>T (n.3442-7C>T)
| gnomAD v4 |
17 | g.63945645G= | CA2270163008 | SCN4A | c.3442-7C= (n.3442-7C=)
| |
17 | g.63945645G>T | CA626861044 | SCN4A | c.3442-7C>A (n.3442-7C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945645_63945646insGGAAAG | CA2810127638 | SCN4A | c.3442-7_3442-6insTTTCCC (n.3442-7_3442-6insTTTCCC)
| |
17 | g.63945650_63945664del | CA2639312417 | SCN4A | c.3442-21_3442-7del (n.3442-21_3442-7del)
| gnomAD v4 |
17 | g.63945645_63945646insGC | CA16044105 | SCN4A | c.3442-8_3442-7insGC (n.3442-8_3442-7insGC)
| |
17 | g.63945646C>A | CA2810127639 | SCN4A | c.3442-8G>T (n.3442-8G>T)
| |
17 | g.63945646C>G | CA2639312422 | SCN4A | c.3442-8G>C (n.3442-8G>C)
| gnomAD v4 |
17 | g.63945646C>T | CA2810127640 | SCN4A | c.3442-8G>A (n.3442-8G>A)
| |
17 | g.63945647C= | CA2270163009 | SCN4A | c.3442-9G= (n.3442-9G=)
| |
17 | g.63945647C>G | CA2639312425 | SCN4A | c.3442-9G>C (n.3442-9G>C)
| gnomAD v4 |
17 | g.63945648A= | CA2270163010 | SCN4A | c.3442-10T= (n.3442-10T=)
| |
17 | g.63945648A>T | CA8709256 | SCN4A | c.3442-10T>A (n.3442-10T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945648dup | CA626861045 | SCN4A | c.3442-10dup (n.3442-10dup)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945649G>A | CA774009501 | SCN4A | c.3442-11C>T (n.3442-11C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945649G= | CA2270163011 | SCN4A | c.3442-11C= (n.3442-11C=)
| |
17 | g.63945653dup | CA2639312438 | SCN4A | c.3442-11dup (n.3442-11dup)
| gnomAD v4 |
17 | g.63945650G>A | CA8709257 | SCN4A | c.3442-12C>T (n.3442-12C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945650G>C | CA292961756 | SCN4A | c.3442-12C>G (n.3442-12C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945650G= | CA2270163012 | SCN4A | c.3442-12C= (n.3442-12C=)
| |
17 | g.63945650G>T | CA626861046 | SCN4A | c.3442-12C>A (n.3442-12C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945651G>A | CA2639312456 | SCN4A | c.3442-13C>T (n.3442-13C>T)
| gnomAD v4 |
17 | g.63945652G>A | CA626861047 | SCN4A | c.3442-14C>T (n.3442-14C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945652G>C | CA2270163014 | SCN4A | c.3442-14C>G (n.3442-14C>G)
| dbSNP |
17 | g.63945652G= | CA2270163013 | SCN4A | c.3442-14C= (n.3442-14C=)
| |
17 | g.63945652G>T | CA8709258 | SCN4A | c.3442-14C>A (n.3442-14C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945653G>A | CA8709259 | SCN4A | c.3442-15C>T (n.3442-15C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945653G= | CA2270163015 | SCN4A | c.3442-15C= (n.3442-15C=)
| |
17 | g.63945653G>T | CA774009507 | SCN4A | c.3442-15C>A (n.3442-15C>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63945654T>A | CA2576355623 | SCN4A | c.3442-16A>T (n.3442-16A>T)
| |
17 | g.63945655C>A | CA626861048 | SCN4A | c.3442-17G>T (n.3442-17G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945655C= | CA2270163016 | SCN4A | c.3442-17G= (n.3442-17G=)
| |
17 | g.63945655C>G | CA2739268340 | SCN4A | c.3442-17G>C (n.3442-17G>C)
| ClinVar |
17 | g.63945655C>T | CA8709260 | SCN4A | c.3442-17G>A (n.3442-17G>A)
| dbSNP ExAC gnomAD v2 |
17 | g.63945656C>A | CA8709261 | SCN4A | c.3442-18G>T (n.3442-18G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945656C= | CA2270163017 | SCN4A | c.3442-18G= (n.3442-18G=)
| |
17 | g.63945658T>C | CA2639312461 | SCN4A | c.3442-20A>G (n.3442-20A>G)
| gnomAD v4 |
17 | g.63945660G>A | CA2639312463 | SCN4A | c.3442-22C>T (n.3442-22C>T)
| gnomAD v4 |
17 | g.63945661C>A | CA2639312466 | SCN4A | c.3442-23G>T (n.3442-23G>T)
| gnomAD v4 |
17 | g.63945661C= | CA2270163018 | SCN4A | c.3442-23G= (n.3442-23G=)
| |
17 | g.63945661C>T | CA626861049 | SCN4A | c.3442-23G>A (n.3442-23G>A)
| dbSNP gnomAD v2 |
17 | g.63945662C= | CA2270163019 | SCN4A | c.3442-24G= (n.3442-24G=)
| |
17 | g.63945662C>T | CA8709262 | SCN4A | c.3442-24G>A (n.3442-24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945665T>C | CA292961767 | SCN4A | c.3442-27A>G (n.3442-27A>G)
| dbSNP |
17 | g.63945665T= | CA2270163020 | SCN4A | c.3442-27A= (n.3442-27A=)
| |
17 | g.63945668C= | CA2270163021 | SCN4A | c.3442-30G= (n.3442-30G=)
| |
17 | g.63945668C>T | CA2270163022 | SCN4A | c.3442-30G>A (n.3442-30G>A)
| dbSNP gnomAD v4 |
17 | g.63945670C= | CA2270163023 | SCN4A | c.3442-32G= (n.3442-32G=)
| |
17 | g.63945670C>T | CA292961776 | SCN4A | c.3442-32G>A (n.3442-32G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945674_63945694del | CA2639312472 | SCN4A | c.3442-52_3442-32del (n.3442-52_3442-32del)
| gnomAD v4 |
17 | g.63945671T>C | CA8709263 | SCN4A | c.3442-33A>G (n.3442-33A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945671T= | CA2270163024 | SCN4A | c.3442-33A= (n.3442-33A=)
| |
17 | g.63945672C= | CA2270163025 | SCN4A | c.3442-34G= (n.3442-34G=)
| |
17 | g.63945672C>T | CA8709264 | SCN4A | c.3442-34G>A (n.3442-34G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945673C= | CA2270163026 | SCN4A | c.3442-35G= (n.3442-35G=)
| |
17 | g.63945673C>T | CA626861050 | SCN4A | c.3442-35G>A (n.3442-35G>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63945674C>G | CA2639312482 | SCN4A | c.3442-36G>C (n.3442-36G>C)
| gnomAD v4 |
17 | g.63945674C>T | CA2639312483 | SCN4A | c.3442-36G>A (n.3442-36G>A)
| gnomAD v4 |
17 | g.63945675A>C | CA2639312484 | SCN4A | c.3442-37T>G (n.3442-37T>G)
| gnomAD v4 |
17 | g.63945675A>G | CA2639312485 | SCN4A | c.3442-37T>C (n.3442-37T>C)
| gnomAD v4 |
17 | g.63945676G>A | CA2810127646 | SCN4A | c.3442-38C>T (n.3442-38C>T)
| |
17 | g.63945676G>T | CA2639312487 | SCN4A | c.3442-38C>A (n.3442-38C>A)
| gnomAD v4 |
17 | g.63945677C>A | CA2639312489 | SCN4A | c.3442-39G>T (n.3442-39G>T)
| gnomAD v4 |