UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92719013G>A | CA466343202 | BICD2 | c.1632C>T (p.Cys544=) c.1713C>T (p.Cys571=) | |
| 9 | g.92719013G>C | CA374036631 | BICD2 | c.1632C>G (p.Cys544Trp) c.1713C>G (p.Cys571Trp) | |
| 9 | g.92719013G>T | CA374036634 | BICD2 | c.1632C>A (p.Cys544Ter) c.1713C>A (p.Cys571Ter) | COSMIC COSMIC |
| 9 | g.92719014C>A | CA374036638 | BICD2 | c.1631G>T (p.Cys544Phe) c.1712G>T (p.Cys571Phe) | |
| 9 | g.92719014C= | CA1864361484 | BICD2 | c.1631G= (p.Cys544=) c.1712G= (p.Cys571=) | |
| 9 | g.92719014C>G | CA374036640 | BICD2 | c.1631G>C (p.Cys544Ser) c.1712G>C (p.Cys571Ser) | |
| 9 | g.92719014C>T | CA374036641 | BICD2 | c.1631G>A (p.Cys544Tyr) c.1712G>A (p.Cys571Tyr) | ClinVar dbSNP |
| 9 | g.92719015A>C | CA374036650 | BICD2 | c.1630T>G (p.Cys544Gly) c.1711T>G (p.Cys571Gly) | |
| 9 | g.92719015A>G | CA374036647 | BICD2 | c.1630T>C (p.Cys544Arg) c.1711T>C (p.Cys571Arg) | |
| 9 | g.92719015A>T | CA374036645 | BICD2 | c.1630T>A (p.Cys544Ser) c.1711T>A (p.Cys571Ser) | |
| 9 | g.92719016C>A | CA374036654 | BICD2 | c.1629G>T (p.Met543Ile) c.1710G>T (p.Met570Ile) | COSMIC COSMIC |
| 9 | g.92719016C= | CA1864361487 | BICD2 | c.1629G= (p.Met543=) c.1710G= (p.Met570=) | |
| 9 | g.92719016C>G | CA374036656 | BICD2 | c.1629G>C (p.Met543Ile) c.1710G>C (p.Met570Ile) | |
| 9 | g.92719016C>T | CA374036659 | BICD2 | c.1629G>A (p.Met543Ile) c.1710G>A (p.Met570Ile) | dbSNP gnomAD v4 |
| 9 | g.92719017A= | CA1864361492 | BICD2 | c.1628T= (p.Met543=) c.1709T= (p.Met570=) | |
| 9 | g.92719017A>C | CA374036661 | BICD2 | c.1628T>G (p.Met543Arg) c.1709T>G (p.Met570Arg) | |
| 9 | g.92719017A>G | CA5126522 | BICD2 | c.1628T>C (p.Met543Thr) c.1709T>C (p.Met570Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719017A>T | CA374036665 | BICD2 | c.1628T>A (p.Met543Lys) c.1709T>A (p.Met570Lys) | |
| 9 | g.92719017_92719018insG | CA645547587 | BICD2 | c.1627_1628insC (p.Met543ThrfsTer5) c.1708_1709insC (p.Met570ThrfsTer5) | COSMIC COSMIC |
| 9 | g.92719018T>A | CA374036668 | BICD2 | c.1627A>T (p.Met543Leu) c.1708A>T (p.Met570Leu) | ClinVar |
| 9 | g.92719018T>C | CA374036682 | BICD2 | c.1627A>G (p.Met543Val) c.1708A>G (p.Met570Val) | |
| 9 | g.92719018T>G | CA374036670 | BICD2 | c.1627A>C (p.Met543Leu) c.1708A>C (p.Met570Leu) | |
| 9 | g.92719019G>A | CA466343207 | BICD2 | c.1626C>T (p.Cys542=) c.1707C>T (p.Cys569=) | gnomAD v4 |
| 9 | g.92719019G>C | CA374036688 | BICD2 | c.1626C>G (p.Cys542Trp) c.1707C>G (p.Cys569Trp) | |
| 9 | g.92719019G>T | CA374036690 | BICD2 | c.1626C>A (p.Cys542Ter) c.1707C>A (p.Cys569Ter) | |
| 9 | g.92719020C>A | CA374036696 | BICD2 | c.1625G>T (p.Cys542Phe) c.1706G>T (p.Cys569Phe) | |
| 9 | g.92719020C>G | CA374036697 | BICD2 | c.1625G>C (p.Cys542Ser) c.1706G>C (p.Cys569Ser) | |
| 9 | g.92719020C>T | CA374036699 | BICD2 | c.1625G>A (p.Cys542Tyr) c.1706G>A (p.Cys569Tyr) | |
| 9 | g.92719021A= | CA1864361495 | BICD2 | c.1624T= (p.Cys542=) c.1705T= (p.Cys569=) | |
| 9 | g.92719021A>C | CA374036700 | BICD2 | c.1624T>G (p.Cys542Gly) c.1705T>G (p.Cys569Gly) | |
| 9 | g.92719021A>G | CA196340485 | BICD2 | c.1624T>C (p.Cys542Arg) c.1705T>C (p.Cys569Arg) | dbSNP |
| 9 | g.92719021A>T | CA374036703 | BICD2 | c.1624T>A (p.Cys542Ser) c.1705T>A (p.Cys569Ser) | |
| 9 | g.92719022C>A | CA466343213 | BICD2 | c.1623G>T (p.Val541=) c.1704G>T (p.Val568=) | gnomAD v4 |
| 9 | g.92719022C>G | CA466343214 | BICD2 | c.1623G>C (p.Val541=) c.1704G>C (p.Val568=) | |
| 9 | g.92719022C>T | CA466343215 | BICD2 | c.1623G>A (p.Val541=) c.1704G>A (p.Val568=) | |
| 9 | g.92719023A>C | CA374036706 | BICD2 | c.1622T>G (p.Val541Gly) c.1703T>G (p.Val568Gly) | |
| 9 | g.92719023A>G | CA374036708 | BICD2 | c.1622T>C (p.Val541Ala) c.1703T>C (p.Val568Ala) | |
| 9 | g.92719023A>T | CA374036712 | BICD2 | c.1622T>A (p.Val541Glu) c.1703T>A (p.Val568Glu) | |
| 9 | g.92719023_92719024insG | CA645547588 | BICD2 | c.1621_1622insC (p.Val541AlafsTer7) c.1702_1703insC (p.Val568AlafsTer7) | COSMIC COSMIC |
| 9 | g.92719024C>A | CA374036715 | BICD2 | c.1621G>T (p.Val541Leu) c.1702G>T (p.Val568Leu) | dbSNP |
| 9 | g.92719024C= | CA1864361500 | BICD2 | c.1621G= (p.Val541=) c.1702G= (p.Val568=) | |
| 9 | g.92719024C>G | CA374036719 | BICD2 | c.1621G>C (p.Val541Leu) c.1702G>C (p.Val568Leu) | |
| 9 | g.92719024C>T | CA374036717 | BICD2 | c.1621G>A (p.Val541Met) c.1702G>A (p.Val568Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719025G>A | CA5126523 | BICD2 | c.1620C>T (p.His540=) c.1701C>T (p.His567=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719025G>C | CA374036726 | BICD2 | c.1620C>G (p.His540Gln) c.1701C>G (p.His567Gln) | |
| 9 | g.92719025G= | CA1864361508 | BICD2 | c.1620C= (p.His540=) c.1701C= (p.His567=) | |
| 9 | g.92719025G>T | CA374036728 | BICD2 | c.1620C>A (p.His540Gln) c.1701C>A (p.His567Gln) | |
| 9 | g.92719026T>A | CA374036732 | BICD2 | c.1619A>T (p.His540Leu) c.1700A>T (p.His567Leu) | |
| 9 | g.92719026T>C | CA374036735 | BICD2 | c.1619A>G (p.His540Arg) c.1700A>G (p.His567Arg) | ClinVar |
| 9 | g.92719026T>G | CA374036738 | BICD2 | c.1619A>C (p.His540Pro) c.1700A>C (p.His567Pro) | |
| 9 | g.92719027G>A | CA374036740 | BICD2 | c.1618C>T (p.His540Tyr) c.1699C>T (p.His567Tyr) | gnomAD v4 |
| 9 | g.92719027G>C | CA374036742 | BICD2 | c.1618C>G (p.His540Asp) c.1699C>G (p.His567Asp) | ClinVar dbSNP |
| 9 | g.92719027G= | CA1864361515 | BICD2 | c.1618C= (p.His540=) c.1699C= (p.His567=) | |
| 9 | g.92719027G>T | CA374036744 | BICD2 | c.1618C>A (p.His540Asn) c.1699C>A (p.His567Asn) | |
| 9 | g.92719028dup | CA2785103235 | BICD2 | c.1618dup (p.His540ProfsTer8) c.1699dup (p.His567ProfsTer8) | |
| 9 | g.92719028G>A | CA196340502 | BICD2 | c.1617C>T (p.His539=) c.1698C>T (p.His566=) | ClinVar dbSNP |
| 9 | g.92719028G>C | CA374036745 | BICD2 | c.1617C>G (p.His539Gln) c.1698C>G (p.His566Gln) | ClinVar |
| 9 | g.92719028G= | CA1864361520 | BICD2 | c.1617C= (p.His539=) c.1698C= (p.His566=) | |
| 9 | g.92719028G>T | CA374036746 | BICD2 | c.1617C>A (p.His539Gln) c.1698C>A (p.His566Gln) | |
| 9 | g.92719029T>A | CA374036753 | BICD2 | c.1616A>T (p.His539Leu) c.1697A>T (p.His566Leu) | |
| 9 | g.92719029T>C | CA374036751 | BICD2 | c.1616A>G (p.His539Arg) c.1697A>G (p.His566Arg) | |
| 9 | g.92719029T>G | CA374036749 | BICD2 | c.1616A>C (p.His539Pro) c.1697A>C (p.His566Pro) | |
| 9 | g.92719030G>A | CA374036756 | BICD2 | c.1615C>T (p.His539Tyr) c.1696C>T (p.His566Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719030G>C | CA374036758 | BICD2 | c.1615C>G (p.His539Asp) c.1696C>G (p.His566Asp) | |
| 9 | g.92719030G= | CA1864361522 | BICD2 | c.1615C= (p.His539=) c.1696C= (p.His566=) | |
| 9 | g.92719030G>T | CA374036760 | BICD2 | c.1615C>A (p.His539Asn) c.1696C>A (p.His566Asn) | |
| 9 | g.92719031G>A | CA196340514 | BICD2 | c.1614C>T (p.Tyr538=) c.1695C>T (p.Tyr565=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719031G>C | CA374036762 | BICD2 | c.1614C>G (p.Tyr538Ter) c.1695C>G (p.Tyr565Ter) | |
| 9 | g.92719031G= | CA1864361525 | BICD2 | c.1614C= (p.Tyr538=) c.1695C= (p.Tyr565=) | |
| 9 | g.92719031G>T | CA374036765 | BICD2 | c.1614C>A (p.Tyr538Ter) c.1695C>A (p.Tyr565Ter) | gnomAD v4 |
| 9 | g.92719032T>A | CA374036766 | BICD2 | c.1613A>T (p.Tyr538Phe) c.1694A>T (p.Tyr565Phe) | |
| 9 | g.92719032T>C | CA374036769 | BICD2 | c.1613A>G (p.Tyr538Cys) c.1694A>G (p.Tyr565Cys) | ClinVar dbSNP |
| 9 | g.92719032T>G | CA374036770 | BICD2 | c.1613A>C (p.Tyr538Ser) c.1694A>C (p.Tyr565Ser) | |
| 9 | g.92719032T= | CA1864361533 | BICD2 | c.1613A= (p.Tyr538=) c.1694A= (p.Tyr565=) | |
| 9 | g.92719033A>C | CA374036771 | BICD2 | c.1612T>G (p.Tyr538Asp) c.1693T>G (p.Tyr565Asp) | |
| 9 | g.92719033A>G | CA374036773 | BICD2 | c.1612T>C (p.Tyr538His) c.1693T>C (p.Tyr565His) | ClinVar dbSNP |
| 9 | g.92719033A>T | CA374036775 | BICD2 | c.1612T>A (p.Tyr538Asn) c.1693T>A (p.Tyr565Asn) | |
| 9 | g.92719034G>A | CA5126524 | BICD2 | c.1611C>T (p.Leu537=) c.1692C>T (p.Leu564=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719034G>C | CA466343232 | BICD2 | c.1611C>G (p.Leu537=) c.1692C>G (p.Leu564=) | |
| 9 | g.92719034G= | CA1864361538 | BICD2 | c.1611C= (p.Leu537=) c.1692C= (p.Leu564=) | |
| 9 | g.92719034G>T | CA466343233 | BICD2 | c.1611C>A (p.Leu537=) c.1692C>A (p.Leu564=) | gnomAD v4 |
| 9 | g.92719035A>C | CA374036785 | BICD2 | c.1610T>G (p.Leu537Arg) c.1691T>G (p.Leu564Arg) | |
| 9 | g.92719035A>G | CA374036788 | BICD2 | c.1610T>C (p.Leu537Pro) c.1691T>C (p.Leu564Pro) | |
| 9 | g.92719035A>T | CA374036782 | BICD2 | c.1610T>A (p.Leu537His) c.1691T>A (p.Leu564His) | |
| 9 | g.92719036G>A | CA374036799 | BICD2 | c.1609C>T (p.Leu537Phe) c.1690C>T (p.Leu564Phe) | |
| 9 | g.92719036G>C | CA374036792 | BICD2 | c.1609C>G (p.Leu537Val) c.1690C>G (p.Leu564Val) | |
| 9 | g.92719036G>T | CA374036795 | BICD2 | c.1609C>A (p.Leu537Ile) c.1690C>A (p.Leu564Ile) | |
| 9 | g.92719037A>C | CA374036802 | BICD2 | c.1608T>G (p.Asn536Lys) c.1689T>G (p.Asn563Lys) | |
| 9 | g.92719037A>G | CA466343241 | BICD2 | c.1608T>C (p.Asn536=) c.1689T>C (p.Asn563=) | |
| 9 | g.92719037A>T | CA374036806 | BICD2 | c.1608T>A (p.Asn536Lys) c.1689T>A (p.Asn563Lys) | |
| 9 | g.92719038T>A | CA374036809 | BICD2 | c.1607A>T (p.Asn536Ile) c.1688A>T (p.Asn563Ile) | |
| 9 | g.92719038T>C | CA374036812 | BICD2 | c.1607A>G (p.Asn536Ser) c.1688A>G (p.Asn563Ser) | ClinVar gnomAD v4 |
| 9 | g.92719038T>G | CA374036816 | BICD2 | c.1607A>C (p.Asn536Thr) c.1688A>C (p.Asn563Thr) | |
| 9 | g.92719039T>A | CA374036819 | BICD2 | c.1606A>T (p.Asn536Tyr) c.1687A>T (p.Asn563Tyr) | |
| 9 | g.92719039T>C | CA374036823 | BICD2 | c.1606A>G (p.Asn536Asp) c.1687A>G (p.Asn563Asp) | |
| 9 | g.92719039T>G | CA374036825 | BICD2 | c.1606A>C (p.Asn536His) c.1687A>C (p.Asn563His) | |
| 9 | g.92719040G>A | CA466343247 | BICD2 | c.1605C>T (p.Ala535=) c.1686C>T (p.Ala562=) | gnomAD v4 |
| 9 | g.92719040G>C | CA466343248 | BICD2 | c.1605C>G (p.Ala535=) c.1686C>G (p.Ala562=) | |
| 9 | g.92719040G>T | CA466343249 | BICD2 | c.1605C>A (p.Ala535=) c.1686C>A (p.Ala562=) | |
| 9 | g.92719041G>A | CA374036829 | BICD2 | c.1604C>T (p.Ala535Val) c.1685C>T (p.Ala562Val) | ClinVar dbSNP |
| 9 | g.92719041G>C | CA374036832 | BICD2 | c.1604C>G (p.Ala535Gly) c.1685C>G (p.Ala562Gly) | |
| 9 | g.92719041G= | CA1864361545 | BICD2 | c.1604C= (p.Ala535=) c.1685C= (p.Ala562=) | |
| 9 | g.92719041G>T | CA374036835 | BICD2 | c.1604C>A (p.Ala535Asp) c.1685C>A (p.Ala562Asp) | gnomAD v4 |
| 9 | g.92719042C>A | CA374036848 | BICD2 | c.1603G>T (p.Ala535Ser) c.1684G>T (p.Ala562Ser) | |
| 9 | g.92719042C>G | CA374036843 | BICD2 | c.1603G>C (p.Ala535Pro) c.1684G>C (p.Ala562Pro) | |
| 9 | g.92719042C>T | CA374036845 | BICD2 | c.1603G>A (p.Ala535Thr) c.1684G>A (p.Ala562Thr) | |
| 9 | g.92719043C>A | CA466343251 | BICD2 | c.1602G>T (p.Leu534=) c.1683G>T (p.Leu561=) | |
| 9 | g.92719043C>G | CA466343252 | BICD2 | c.1602G>C (p.Leu534=) c.1683G>C (p.Leu561=) | |
| 9 | g.92719043C>T | CA466343254 | BICD2 | c.1602G>A (p.Leu534=) c.1683G>A (p.Leu561=) | |
| 9 | g.92719044A>C | CA374036852 | BICD2 | c.1601T>G (p.Leu534Arg) c.1682T>G (p.Leu561Arg) | |
| 9 | g.92719044A>G | CA374036854 | BICD2 | c.1601T>C (p.Leu534Pro) c.1682T>C (p.Leu561Pro) | |
| 9 | g.92719044A>T | CA374036858 | BICD2 | c.1601T>A (p.Leu534Gln) c.1682T>A (p.Leu561Gln) | |
| 9 | g.92719045G>A | CA466343262 | BICD2 | c.1600C>T (p.Leu534=) c.1681C>T (p.Leu561=) | |
| 9 | g.92719045G>C | CA374036861 | BICD2 | c.1600C>G (p.Leu534Val) c.1681C>G (p.Leu561Val) | |
| 9 | g.92719045G>T | CA374036863 | BICD2 | c.1600C>A (p.Leu534Met) c.1681C>A (p.Leu561Met) | |
| 9 | g.92719046C>A | CA374036876 | BICD2 | c.1599G>T (p.Glu533Asp) c.1680G>T (p.Glu560Asp) | |
| 9 | g.92719046C>G | CA374036878 | BICD2 | c.1599G>C (p.Glu533Asp) c.1680G>C (p.Glu560Asp) | |
| 9 | g.92719046C>T | CA466343263 | BICD2 | c.1599G>A (p.Glu533=) c.1680G>A (p.Glu560=) | |
| 9 | g.92719047T>A | CA374036881 | BICD2 | c.1598A>T (p.Glu533Val) c.1679A>T (p.Glu560Val) | |
| 9 | g.92719047T>C | CA374036883 | BICD2 | c.1598A>G (p.Glu533Gly) c.1679A>G (p.Glu560Gly) | |
| 9 | g.92719047T>G | CA374036886 | BICD2 | c.1598A>C (p.Glu533Ala) c.1679A>C (p.Glu560Ala) | |
| 9 | g.92719048C>A | CA374036896 | BICD2 | c.1597G>T (p.Glu533Ter) c.1678G>T (p.Glu560Ter) | |
| 9 | g.92719048C>G | CA374036897 | BICD2 | c.1597G>C (p.Glu533Gln) c.1678G>C (p.Glu560Gln) | |
| 9 | g.92719048C>T | CA374036899 | BICD2 | c.1597G>A (p.Glu533Lys) c.1678G>A (p.Glu560Lys) | |
| 9 | g.92719049C>A | CA374036902 | BICD2 | c.1596G>T (p.Glu532Asp) c.1677G>T (p.Glu559Asp) | |
| 9 | g.92719049C>G | CA374036904 | BICD2 | c.1596G>C (p.Glu532Asp) c.1677G>C (p.Glu559Asp) | |
| 9 | g.92719049C>T | CA466343268 | BICD2 | c.1596G>A (p.Glu532=) c.1677G>A (p.Glu559=) | |
| 9 | g.92719050T>A | CA374036908 | BICD2 | c.1595A>T (p.Glu532Val) c.1676A>T (p.Glu559Val) | |
| 9 | g.92719050T>C | CA374036910 | BICD2 | c.1595A>G (p.Glu532Gly) c.1676A>G (p.Glu559Gly) | |
| 9 | g.92719050T>G | CA374036912 | BICD2 | c.1595A>C (p.Glu532Ala) c.1676A>C (p.Glu559Ala) | |
| 9 | g.92719051C>A | CA374036914 | BICD2 | c.1594G>T (p.Glu532Ter) c.1675G>T (p.Glu559Ter) | |
| 9 | g.92719051C>G | CA374036916 | BICD2 | c.1594G>C (p.Glu532Gln) c.1675G>C (p.Glu559Gln) | |
| 9 | g.92719051C>T | CA374036918 | BICD2 | c.1594G>A (p.Glu532Lys) c.1675G>A (p.Glu559Lys) | COSMIC COSMIC |
| 9 | g.92719052A>C | CA374036921 | BICD2 | c.1593T>G (p.Ser531Arg) c.1674T>G (p.Ser558Arg) | |
| 9 | g.92719052A>G | CA466343280 | BICD2 | c.1593T>C (p.Ser531=) c.1674T>C (p.Ser558=) | |
| 9 | g.92719052A>T | CA374036925 | BICD2 | c.1593T>A (p.Ser531Arg) c.1674T>A (p.Ser558Arg) | |
| 9 | g.92719053C>A | CA374036934 | BICD2 | c.1592G>T (p.Ser531Ile) c.1673G>T (p.Ser558Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719053C= | CA1864361550 | BICD2 | c.1592G= (p.Ser531=) c.1673G= (p.Ser558=) | |
| 9 | g.92719053C>G | CA374036942 | BICD2 | c.1592G>C (p.Ser531Thr) c.1673G>C (p.Ser558Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719053C>T | CA374036943 | BICD2 | c.1592G>A (p.Ser531Asn) c.1673G>A (p.Ser558Asn) | |
| 9 | g.92719054T>A | CA374036948 | BICD2 | c.1591A>T (p.Ser531Cys) c.1672A>T (p.Ser558Cys) | |
| 9 | g.92719054T>C | CA374036950 | BICD2 | c.1591A>G (p.Ser531Gly) c.1672A>G (p.Ser558Gly) | |
| 9 | g.92719054T>G | CA374036953 | BICD2 | c.1591A>C (p.Ser531Arg) c.1672A>C (p.Ser558Arg) | |
| 9 | g.92719055G>A | CA466343284 | BICD2 | c.1590C>T (p.Phe530=) c.1671C>T (p.Phe557=) | |
| 9 | g.92719055G>C | CA374036958 | BICD2 | c.1590C>G (p.Phe530Leu) c.1671C>G (p.Phe557Leu) | |
| 9 | g.92719055G= | CA1864361555 | BICD2 | c.1590C= (p.Phe530=) c.1671C= (p.Phe557=) | |
| 9 | g.92719055G>T | CA374036960 | BICD2 | c.1590C>A (p.Phe530Leu) c.1671C>A (p.Phe557Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92719056A= | CA1864361559 | BICD2 | c.1589T= (p.Phe530=) c.1670T= (p.Phe557=) | |
| 9 | g.92719056A>C | CA374036964 | BICD2 | c.1589T>G (p.Phe530Cys) c.1670T>G (p.Phe557Cys) | gnomAD v4 |
| 9 | g.92719056A>G | CA204791 | BICD2 | c.1589T>C (p.Phe530Ser) c.1670T>C (p.Phe557Ser) | ClinVar dbSNP |
| 9 | g.92719056A>T | CA374036965 | BICD2 | c.1589T>A (p.Phe530Tyr) c.1670T>A (p.Phe557Tyr) | |
| 9 | g.92719057A>C | CA374036966 | BICD2 | c.1588T>G (p.Phe530Val) c.1669T>G (p.Phe557Val) | |
| 9 | g.92719057A>G | CA374036968 | BICD2 | c.1588T>C (p.Phe530Leu) c.1669T>C (p.Phe557Leu) | |
| 9 | g.92719057A>T | CA374036970 | BICD2 | c.1588T>A (p.Phe530Ile) c.1669T>A (p.Phe557Ile) | |
| 9 | g.92719058G>A | CA466343294 | BICD2 | c.1587C>T (p.Thr529=) c.1668C>T (p.Thr556=) | gnomAD v4 |
| 9 | g.92719058G>C | CA466343295 | BICD2 | c.1587C>G (p.Thr529=) c.1668C>G (p.Thr556=) | |
| 9 | g.92719058G>T | CA466343296 | BICD2 | c.1587C>A (p.Thr529=) c.1668C>A (p.Thr556=) | |
| 9 | g.92719059G>A | CA374036976 | BICD2 | c.1586C>T (p.Thr529Ile) c.1667C>T (p.Thr556Ile) | |
| 9 | g.92719059G>C | CA374036991 | BICD2 | c.1586C>G (p.Thr529Ser) c.1667C>G (p.Thr556Ser) | |
| 9 | g.92719059G>T | CA374036994 | BICD2 | c.1586C>A (p.Thr529Asn) c.1667C>A (p.Thr556Asn) | gnomAD v4 |
| 9 | g.92719060T>A | CA374037014 | BICD2 | c.1585A>T (p.Thr529Ser) c.1666A>T (p.Thr556Ser) | |
| 9 | g.92719060T>C | CA374037016 | BICD2 | c.1585A>G (p.Thr529Ala) c.1666A>G (p.Thr556Ala) | dbSNP |
| 9 | g.92719060T>G | CA374037017 | BICD2 | c.1585A>C (p.Thr529Pro) c.1666A>C (p.Thr556Pro) | |
| 9 | g.92719060T= | CA1864361562 | BICD2 | c.1585A= (p.Thr529=) c.1666A= (p.Thr556=) | |
| 9 | g.92719061C>A | CA466343309 | BICD2 | c.1584G>T (p.Val528=) c.1665G>T (p.Val555=) | ClinVar gnomAD v4 |
| 9 | g.92719061C= | CA1864361566 | BICD2 | c.1584G= (p.Val528=) c.1665G= (p.Val555=) | |
| 9 | g.92719061C>G | CA466343310 | BICD2 | c.1584G>C (p.Val528=) c.1665G>C (p.Val555=) | |
| 9 | g.92719061C>T | CA466343311 | BICD2 | c.1584G>A (p.Val528=) c.1665G>A (p.Val555=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719062A>C | CA374037025 | BICD2 | c.1583T>G (p.Val528Gly) c.1664T>G (p.Val555Gly) | |
| 9 | g.92719062A>G | CA374037036 | BICD2 | c.1583T>C (p.Val528Ala) c.1664T>C (p.Val555Ala) | |
| 9 | g.92719062A>T | CA374037027 | BICD2 | c.1583T>A (p.Val528Glu) c.1664T>A (p.Val555Glu) | |
| 9 | g.92719063C>A | CA374037039 | BICD2 | c.1582G>T (p.Val528Leu) c.1663G>T (p.Val555Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719063C= | CA1864361572 | BICD2 | c.1582G= (p.Val528=) c.1663G= (p.Val555=) | |
| 9 | g.92719063C>G | CA374037050 | BICD2 | c.1582G>C (p.Val528Leu) c.1663G>C (p.Val555Leu) | |
| 9 | g.92719063C>T | CA196340528 | BICD2 | c.1582G>A (p.Val528Met) c.1663G>A (p.Val555Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719064C>A | CA466343319 | BICD2 | c.1581G>T (p.Leu527=) c.1662G>T (p.Leu554=) | |
| 9 | g.92719064C>G | CA466343321 | BICD2 | c.1581G>C (p.Leu527=) c.1662G>C (p.Leu554=) | |
| 9 | g.92719064C>T | CA466343322 | BICD2 | c.1581G>A (p.Leu527=) c.1662G>A (p.Leu554=) | |
| 9 | g.92719065A>C | CA374037056 | BICD2 | c.1580T>G (p.Leu527Arg) c.1661T>G (p.Leu554Arg) | |
| 9 | g.92719065A>G | CA374037058 | BICD2 | c.1580T>C (p.Leu527Pro) c.1661T>C (p.Leu554Pro) | COSMIC COSMIC |
| 9 | g.92719065A>T | CA374037061 | BICD2 | c.1580T>A (p.Leu527Gln) c.1661T>A (p.Leu554Gln) | |
| 9 | g.92719066G>A | CA466343327 | BICD2 | c.1579C>T (p.Leu527=) c.1660C>T (p.Leu554=) | |
| 9 | g.92719066G>C | CA374037065 | BICD2 | c.1579C>G (p.Leu527Val) c.1660C>G (p.Leu554Val) | ClinVar |
| 9 | g.92719066G>T | CA374037070 | BICD2 | c.1579C>A (p.Leu527Met) c.1660C>A (p.Leu554Met) | |
| 9 | g.92719067C>A | CA374037072 | BICD2 | c.1578G>T (p.Glu526Asp) c.1659G>T (p.Glu553Asp) | |
| 9 | g.92719067C= | CA1864361583 | BICD2 | c.1578G= (p.Glu526=) c.1659G= (p.Glu553=) | |
| 9 | g.92719067C>G | CA374037077 | BICD2 | c.1578G>C (p.Glu526Asp) c.1659G>C (p.Glu553Asp) | |
| 9 | g.92719067C>T | CA5126525 | BICD2 | c.1578G>A (p.Glu526=) c.1659G>A (p.Glu553=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719068T>A | CA374037094 | BICD2 | c.1577A>T (p.Glu526Val) c.1658A>T (p.Glu553Val) | |
| 9 | g.92719068T>C | CA5126526 | BICD2 | c.1577A>G (p.Glu526Gly) c.1658A>G (p.Glu553Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719068T>G | CA374037100 | BICD2 | c.1577A>C (p.Glu526Ala) c.1658A>C (p.Glu553Ala) | |
| 9 | g.92719068T= | CA1864361588 | BICD2 | c.1577A= (p.Glu526=) c.1658A= (p.Glu553=) | |
| 9 | g.92719069C>A | CA374037101 | BICD2 | c.1576G>T (p.Glu526Ter) c.1657G>T (p.Glu553Ter) | |
| 9 | g.92719069C>G | CA374037102 | BICD2 | c.1576G>C (p.Glu526Gln) c.1657G>C (p.Glu553Gln) | |
| 9 | g.92719069C>T | CA374037107 | BICD2 | c.1576G>A (p.Glu526Lys) c.1657G>A (p.Glu553Lys) | |
| 9 | g.92719070A= | CA1864361591 | BICD2 | c.1575T= (p.Asp525=) c.1656T= (p.Asp552=) | |
| 9 | g.92719070A>C | CA374037114 | BICD2 | c.1575T>G (p.Asp525Glu) c.1656T>G (p.Asp552Glu) | gnomAD v4 |
| 9 | g.92719070A>G | CA466343338 | BICD2 | c.1575T>C (p.Asp525=) c.1656T>C (p.Asp552=) | |
| 9 | g.92719070A>T | CA374037112 | BICD2 | c.1575T>A (p.Asp525Glu) c.1656T>A (p.Asp552Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719071T>A | CA374037119 | BICD2 | c.1574A>T (p.Asp525Val) c.1655A>T (p.Asp552Val) | |
| 9 | g.92719071T>C | CA374037122 | BICD2 | c.1574A>G (p.Asp525Gly) c.1655A>G (p.Asp552Gly) | |
| 9 | g.92719071T>G | CA374037138 | BICD2 | c.1574A>C (p.Asp525Ala) c.1655A>C (p.Asp552Ala) | |
| 9 | g.92719072C>A | CA374037142 | BICD2 | c.1573G>T (p.Asp525Tyr) c.1654G>T (p.Asp552Tyr) | |
| 9 | g.92719072C>G | CA374037151 | BICD2 | c.1573G>C (p.Asp525His) c.1654G>C (p.Asp552His) | |
| 9 | g.92719072C>T | CA374037154 | BICD2 | c.1573G>A (p.Asp525Asn) c.1654G>A (p.Asp552Asn) | |
| 9 | g.92719073C>A | CA374037165 | BICD2 | c.1572G>T (p.Gln524His) c.1653G>T (p.Gln551His) | |
| 9 | g.92719073C>G | CA374037162 | BICD2 | c.1572G>C (p.Gln524His) c.1653G>C (p.Gln551His) | |
| 9 | g.92719073C>T | CA466343345 | BICD2 | c.1572G>A (p.Gln524=) c.1653G>A (p.Gln551=) | |
| 9 | g.92719074T>A | CA374037169 | BICD2 | c.1571A>T (p.Gln524Leu) c.1652A>T (p.Gln551Leu) | |
| 9 | g.92719074T>C | CA374037172 | BICD2 | c.1571A>G (p.Gln524Arg) c.1652A>G (p.Gln551Arg) | gnomAD v4 |
| 9 | g.92719074T>G | CA374037176 | BICD2 | c.1571A>C (p.Gln524Pro) c.1652A>C (p.Gln551Pro) | |
| 9 | g.92719075G>A | CA374037184 | BICD2 | c.1570C>T (p.Gln524Ter) c.1651C>T (p.Gln551Ter) | |
| 9 | g.92719075G>C | CA374037187 | BICD2 | c.1570C>G (p.Gln524Glu) c.1651C>G (p.Gln551Glu) | |
| 9 | g.92719075G>T | CA374037190 | BICD2 | c.1570C>A (p.Gln524Lys) c.1651C>A (p.Gln551Lys) | |
| 9 | g.92719076G>A | CA466343354 | BICD2 | c.1569C>T (p.Ala523=) c.1650C>T (p.Ala550=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719076G>C | CA466343356 | BICD2 | c.1569C>G (p.Ala523=) c.1650C>G (p.Ala550=) | |
| 9 | g.92719076G= | CA1864361595 | BICD2 | c.1569C= (p.Ala523=) c.1650C= (p.Ala550=) | |
| 9 | g.92719076G>T | CA466343358 | BICD2 | c.1569C>A (p.Ala523=) c.1650C>A (p.Ala550=) | |
| 9 | g.92719077G>A | CA374037195 | BICD2 | c.1568C>T (p.Ala523Val) c.1649C>T (p.Ala550Val) | gnomAD v4 |
| 9 | g.92719077G>C | CA374037210 | BICD2 | c.1568C>G (p.Ala523Gly) c.1649C>G (p.Ala550Gly) | |
| 9 | g.92719077G>T | CA374037206 | BICD2 | c.1568C>A (p.Ala523Asp) c.1649C>A (p.Ala550Asp) | gnomAD v4 |
| 9 | g.92719078C>A | CA374037213 | BICD2 | c.1567G>T (p.Ala523Ser) c.1648G>T (p.Ala550Ser) | |
| 9 | g.92719078C>G | CA374037217 | BICD2 | c.1567G>C (p.Ala523Pro) c.1648G>C (p.Ala550Pro) | |
| 9 | g.92719078C>T | CA374037220 | BICD2 | c.1567G>A (p.Ala523Thr) c.1648G>A (p.Ala550Thr) | |
| 9 | g.92719079C>A | CA466343361 | BICD2 | c.1566G>T (p.Val522=) c.1647G>T (p.Val549=) | |
| 9 | g.92719079C>G | CA466343362 | BICD2 | c.1566G>C (p.Val522=) c.1647G>C (p.Val549=) | |
| 9 | g.92719079C>T | CA466343364 | BICD2 | c.1566G>A (p.Val522=) c.1647G>A (p.Val549=) | gnomAD v4 |
| 9 | g.92719080A>C | CA374037230 | BICD2 | c.1565T>G (p.Val522Gly) c.1646T>G (p.Val549Gly) | |
| 9 | g.92719080A>G | CA374037241 | BICD2 | c.1565T>C (p.Val522Ala) c.1646T>C (p.Val549Ala) | |
| 9 | g.92719080A>T | CA374037245 | BICD2 | c.1565T>A (p.Val522Glu) c.1646T>A (p.Val549Glu) | |
| 9 | g.92719081C>A | CA374037253 | BICD2 | c.1564G>T (p.Val522Leu) c.1645G>T (p.Val549Leu) | |
| 9 | g.92719081C= | CA1864361598 | BICD2 | c.1564G= (p.Val522=) c.1645G= (p.Val549=) | |
| 9 | g.92719081C>G | CA374037247 | BICD2 | c.1564G>C (p.Val522Leu) c.1645G>C (p.Val549Leu) | |
| 9 | g.92719081C>T | CA374037251 | BICD2 | c.1564G>A (p.Val522Met) c.1645G>A (p.Val549Met) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719082A>C | CA374037254 | BICD2 | c.1563T>G (p.Ser521Arg) c.1644T>G (p.Ser548Arg) | |
| 9 | g.92719082A>G | CA466343371 | BICD2 | c.1563T>C (p.Ser521=) c.1644T>C (p.Ser548=) | ClinVar dbSNP |
| 9 | g.92719082A>T | CA374037255 | BICD2 | c.1563T>A (p.Ser521Arg) c.1644T>A (p.Ser548Arg) | |
| 9 | g.92719083C>A | CA374037257 | BICD2 | c.1562G>T (p.Ser521Ile) c.1643G>T (p.Ser548Ile) | |
| 9 | g.92719083C= | CA1864361603 | BICD2 | c.1562G= (p.Ser521=) c.1643G= (p.Ser548=) | |
| 9 | g.92719083C>G | CA374037261 | BICD2 | c.1562G>C (p.Ser521Thr) c.1643G>C (p.Ser548Thr) | gnomAD v4 |
| 9 | g.92719083C>T | CA374037264 | BICD2 | c.1562G>A (p.Ser521Asn) c.1643G>A (p.Ser548Asn) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719084T>A | CA374037269 | BICD2 | c.1561A>T (p.Ser521Cys) c.1642A>T (p.Ser548Cys) | |
| 9 | g.92719084T>C | CA374037275 | BICD2 | c.1561A>G (p.Ser521Gly) c.1642A>G (p.Ser548Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719084T>G | CA374037273 | BICD2 | c.1561A>C (p.Ser521Arg) c.1642A>C (p.Ser548Arg) | |
| 9 | g.92719084T= | CA1864361608 | BICD2 | c.1561A= (p.Ser521=) c.1642A= (p.Ser548=) | |
| 9 | g.92719085C>A | CA466343377 | BICD2 | c.1560G>T (p.Leu520=) c.1641G>T (p.Leu547=) | |
| 9 | g.92719085C>G | CA466343379 | BICD2 | c.1560G>C (p.Leu520=) c.1641G>C (p.Leu547=) | gnomAD v4 |
| 9 | g.92719085C>T | CA466343380 | BICD2 | c.1560G>A (p.Leu520=) c.1641G>A (p.Leu547=) | |
| 9 | g.92719086A>C | CA374037278 | BICD2 | c.1559T>G (p.Leu520Arg) c.1640T>G (p.Leu547Arg) | |
| 9 | g.92719086A>G | CA374037279 | BICD2 | c.1559T>C (p.Leu520Pro) c.1640T>C (p.Leu547Pro) | |
| 9 | g.92719086A>T | CA374037280 | BICD2 | c.1559T>A (p.Leu520Gln) c.1640T>A (p.Leu547Gln) | |
| 9 | g.92719087G>A | CA466343382 | BICD2 | c.1558C>T (p.Leu520=) c.1639C>T (p.Leu547=) | |
| 9 | g.92719087G>C | CA374037283 | BICD2 | c.1558C>G (p.Leu520Val) c.1639C>G (p.Leu547Val) | COSMIC COSMIC |
| 9 | g.92719087G>T | CA374037285 | BICD2 | c.1558C>A (p.Leu520Met) c.1639C>A (p.Leu547Met) | gnomAD v4 |
| 9 | g.92719088G>A | CA466342717 | BICD2 | c.1557C>T (p.Ser519=) c.1638C>T (p.Ser546=) | |
| 9 | g.92719088G>C | CA374037299 | BICD2 | c.1557C>G (p.Ser519Arg) c.1638C>G (p.Ser546Arg) | |
| 9 | g.92719088G>T | CA374037302 | BICD2 | c.1557C>A (p.Ser519Arg) c.1638C>A (p.Ser546Arg) | |
| 9 | g.92719089C>A | CA196340551 | BICD2 | c.1556G>T (p.Ser519Ile) c.1637G>T (p.Ser546Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719089C= | CA1864361616 | BICD2 | c.1556G= (p.Ser519=) c.1637G= (p.Ser546=) | |
| 9 | g.92719089C>G | CA374037306 | BICD2 | c.1556G>C (p.Ser519Thr) c.1637G>C (p.Ser546Thr) | |
| 9 | g.92719089C>T | CA374037307 | BICD2 | c.1556G>A (p.Ser519Asn) c.1637G>A (p.Ser546Asn) | gnomAD v4 |
| 9 | g.92719090T>A | CA374037314 | BICD2 | c.1555A>T (p.Ser519Cys) c.1636A>T (p.Ser546Cys) | |
| 9 | g.92719090T>C | CA374037317 | BICD2 | c.1555A>G (p.Ser519Gly) c.1636A>G (p.Ser546Gly) | gnomAD v4 |
| 9 | g.92719090T>G | CA374037316 | BICD2 | c.1555A>C (p.Ser519Arg) c.1636A>C (p.Ser546Arg) | |
| 9 | g.92719091G>A | CA466342722 | BICD2 | c.1554C>T (p.Gly518=) c.1635C>T (p.Gly545=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92719091G>C | CA466342723 | BICD2 | c.1554C>G (p.Gly518=) c.1635C>G (p.Gly545=) | |
| 9 | g.92719091G= | CA1864361620 | BICD2 | c.1554C= (p.Gly518=) c.1635C= (p.Gly545=) | |
| 9 | g.92719091G>T | CA466342725 | BICD2 | c.1554C>A (p.Gly518=) c.1635C>A (p.Gly545=) | gnomAD v4 |
| 9 | g.92719092C>A | CA374037320 | BICD2 | c.1553G>T (p.Gly518Val) c.1634G>T (p.Gly545Val) | |
| 9 | g.92719092C>G | CA374037322 | BICD2 | c.1553G>C (p.Gly518Ala) c.1634G>C (p.Gly545Ala) | |
| 9 | g.92719092C>T | CA374037321 | BICD2 | c.1553G>A (p.Gly518Asp) c.1634G>A (p.Gly545Asp) | gnomAD v4 |
| 9 | g.92719093C>A | CA374037323 | BICD2 | c.1552G>T (p.Gly518Cys) c.1633G>T (p.Gly545Cys) | |
| 9 | g.92719093C>G | CA374037324 | BICD2 | c.1552G>C (p.Gly518Arg) c.1633G>C (p.Gly545Arg) | ClinVar |
| 9 | g.92719093C>T | CA374037330 | BICD2 | c.1552G>A (p.Gly518Ser) c.1633G>A (p.Gly545Ser) | gnomAD v4 |
| 9 | g.92719094C>A | CA374037334 | BICD2 | c.1551G>T (p.Gln517His) c.1632G>T (p.Gln544His) | |
| 9 | g.92719094C= | CA1864361626 | BICD2 | c.1551G= (p.Gln517=) c.1632G= (p.Gln544=) | |
| 9 | g.92719094C>G | CA374037337 | BICD2 | c.1551G>C (p.Gln517His) c.1632G>C (p.Gln544His) | |
| 9 | g.92719094C>T | CA196340555 | BICD2 | c.1551G>A (p.Gln517=) c.1632G>A (p.Gln544=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719095T>A | CA374037344 | BICD2 | c.1550A>T (p.Gln517Leu) c.1631A>T (p.Gln544Leu) | |
| 9 | g.92719095T>C | CA374037350 | BICD2 | c.1550A>G (p.Gln517Arg) c.1631A>G (p.Gln544Arg) | gnomAD v4 |
| 9 | g.92719095T>G | CA374037354 | BICD2 | c.1550A>C (p.Gln517Pro) c.1631A>C (p.Gln544Pro) | |
| 9 | g.92719096G>A | CA374037359 | BICD2 | c.1549C>T (p.Gln517Ter) c.1630C>T (p.Gln544Ter) | |
| 9 | g.92719096G>C | CA374037358 | BICD2 | c.1549C>G (p.Gln517Glu) c.1630C>G (p.Gln544Glu) | |
| 9 | g.92719096G>T | CA374037355 | BICD2 | c.1549C>A (p.Gln517Lys) c.1630C>A (p.Gln544Lys) | |
| 9 | g.92719097T>A | CA466342730 | BICD2 | c.1548A>T (p.Thr516=) c.1629A>T (p.Thr543=) | |
| 9 | g.92719097T>C | CA466342731 | BICD2 | c.1548A>G (p.Thr516=) c.1629A>G (p.Thr543=) | |
| 9 | g.92719097T>G | CA466342733 | BICD2 | c.1548A>C (p.Thr516=) c.1629A>C (p.Thr543=) | dbSNP gnomAD v4 |
| 9 | g.92719097T= | CA1864361634 | BICD2 | c.1548A= (p.Thr516=) c.1629A= (p.Thr543=) | |
| 9 | g.92719098G>A | CA374037360 | BICD2 | c.1547C>T (p.Thr516Ile) c.1628C>T (p.Thr543Ile) | |
| 9 | g.92719098G>C | CA374037361 | BICD2 | c.1547C>G (p.Thr516Arg) c.1628C>G (p.Thr543Arg) | |
| 9 | g.92719098G>T | CA374037362 | BICD2 | c.1547C>A (p.Thr516Lys) c.1628C>A (p.Thr543Lys) | |
| 9 | g.92719099T>A | CA374037363 | BICD2 | c.1546A>T (p.Thr516Ser) c.1627A>T (p.Thr543Ser) | |
| 9 | g.92719099T>C | CA374037365 | BICD2 | c.1546A>G (p.Thr516Ala) c.1627A>G (p.Thr543Ala) | |
| 9 | g.92719099T>G | CA374037367 | BICD2 | c.1546A>C (p.Thr516Pro) c.1627A>C (p.Thr543Pro) | dbSNP |
| 9 | g.92719099T= | CA1864361641 | BICD2 | c.1546A= (p.Thr516=) c.1627A= (p.Thr543=) | |
| 9 | g.92719100C>A | CA374037369 | BICD2 | c.1545G>T (p.Glu515Asp) c.1626G>T (p.Glu542Asp) | |
| 9 | g.92719100C>G | CA374037371 | BICD2 | c.1545G>C (p.Glu515Asp) c.1626G>C (p.Glu542Asp) | |
| 9 | g.92719100C>T | CA466342735 | BICD2 | c.1545G>A (p.Glu515=) c.1626G>A (p.Glu542=) | |
| 9 | g.92719101T>A | CA374037374 | BICD2 | c.1544A>T (p.Glu515Val) c.1625A>T (p.Glu542Val) | |
| 9 | g.92719101T>C | CA374037377 | BICD2 | c.1544A>G (p.Glu515Gly) c.1625A>G (p.Glu542Gly) | |
| 9 | g.92719101T>G | CA374037380 | BICD2 | c.1544A>C (p.Glu515Ala) c.1625A>C (p.Glu542Ala) | |
| 9 | g.92719102C>A | CA374037390 | BICD2 | c.1543G>T (p.Glu515Ter) c.1624G>T (p.Glu542Ter) | |
| 9 | g.92719102C= | CA1864361645 | BICD2 | c.1543G= (p.Glu515=) c.1624G= (p.Glu542=) | |
| 9 | g.92719102C>G | CA374037392 | BICD2 | c.1543G>C (p.Glu515Gln) c.1624G>C (p.Glu542Gln) | |
| 9 | g.92719102C>T | CA374037389 | BICD2 | c.1543G>A (p.Glu515Lys) c.1624G>A (p.Glu542Lys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92719103G>A | CA466342739 | BICD2 | c.1542C>T (p.Gly514=) c.1623C>T (p.Gly541=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719103G>C | CA466342740 | BICD2 | c.1542C>G (p.Gly514=) c.1623C>G (p.Gly541=) | |
| 9 | g.92719103G= | CA1864361647 | BICD2 | c.1542C= (p.Gly514=) c.1623C= (p.Gly541=) | |
| 9 | g.92719103G>T | CA466342741 | BICD2 | c.1542C>A (p.Gly514=) c.1623C>A (p.Gly541=) | gnomAD v4 |
| 9 | g.92719104C>A | CA374037403 | BICD2 | c.1541G>T (p.Gly514Val) c.1622G>T (p.Gly541Val) | ClinVar |
| 9 | g.92719104C>G | CA374037408 | BICD2 | c.1541G>C (p.Gly514Ala) c.1622G>C (p.Gly541Ala) | |
| 9 | g.92719104C>T | CA374037412 | BICD2 | c.1541G>A (p.Gly514Asp) c.1622G>A (p.Gly541Asp) | gnomAD v4 |
| 9 | g.92719105C>A | CA374037416 | BICD2 | c.1540G>T (p.Gly514Cys) c.1621G>T (p.Gly541Cys) | |
| 9 | g.92719105C= | CA1864361655 | BICD2 | c.1540G= (p.Gly514=) c.1621G= (p.Gly541=) | |
| 9 | g.92719105C>G | CA374037420 | BICD2 | c.1540G>C (p.Gly514Arg) c.1621G>C (p.Gly541Arg) | dbSNP |
| 9 | g.92719105C>T | CA5126527 | BICD2 | c.1540G>A (p.Gly514Ser) c.1621G>A (p.Gly541Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719106G>A | CA5126528 | BICD2 | c.1539C>T (p.Ala513=) c.1620C>T (p.Ala540=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719106G>C | CA466342744 | BICD2 | c.1539C>G (p.Ala513=) c.1620C>G (p.Ala540=) | |
| 9 | g.92719106G= | CA1864361664 | BICD2 | c.1539C= (p.Ala513=) c.1620C= (p.Ala540=) | |
| 9 | g.92719106G>T | CA466342742 | BICD2 | c.1539C>A (p.Ala513=) c.1620C>A (p.Ala540=) | gnomAD v4 |
| 9 | g.92719107G>A | CA374037433 | BICD2 | c.1538C>T (p.Ala513Val) c.1619C>T (p.Ala540Val) | |
| 9 | g.92719107G>C | CA374037437 | BICD2 | c.1538C>G (p.Ala513Gly) c.1619C>G (p.Ala540Gly) | |
| 9 | g.92719107G>T | CA374037439 | BICD2 | c.1538C>A (p.Ala513Asp) c.1619C>A (p.Ala540Asp) | gnomAD v4 |
| 9 | g.92719108C>A | CA374037442 | BICD2 | c.1537G>T (p.Ala513Ser) c.1618G>T (p.Ala540Ser) | |
| 9 | g.92719108C= | CA1864361672 | BICD2 | c.1537G= (p.Ala513=) c.1618G= (p.Ala540=) | |
| 9 | g.92719108C>G | CA374037443 | BICD2 | c.1537G>C (p.Ala513Pro) c.1618G>C (p.Ala540Pro) | |
| 9 | g.92719108C>T | CA196340580 | BICD2 | c.1537G>A (p.Ala513Thr) c.1618G>A (p.Ala540Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.92719109G>A | CA5126529 | BICD2 | c.1536C>T (p.Val512=) c.1617C>T (p.Val539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719109G>C | CA466342745 | BICD2 | c.1536C>G (p.Val512=) c.1617C>G (p.Val539=) | |
| 9 | g.92719109G= | CA1864361675 | BICD2 | c.1536C= (p.Val512=) c.1617C= (p.Val539=) | |
| 9 | g.92719109G>T | CA466342746 | BICD2 | c.1536C>A (p.Val512=) c.1617C>A (p.Val539=) | gnomAD v4 |
| 9 | g.92719110A>C | CA374037445 | BICD2 | c.1535T>G (p.Val512Gly) c.1616T>G (p.Val539Gly) | |
| 9 | g.92719110A>G | CA374037447 | BICD2 | c.1535T>C (p.Val512Ala) c.1616T>C (p.Val539Ala) | |
| 9 | g.92719110A>T | CA374037450 | BICD2 | c.1535T>A (p.Val512Asp) c.1616T>A (p.Val539Asp) | |
| 9 | g.92719111C>A | CA5126531 | BICD2 | c.1534G>T (p.Val512Phe) c.1615G>T (p.Val539Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719111C= | CA1864361684 | BICD2 | c.1534G= (p.Val512=) c.1615G= (p.Val539=) | |
| 9 | g.92719111C>G | CA374037455 | BICD2 | c.1534G>C (p.Val512Leu) c.1615G>C (p.Val539Leu) | dbSNP gnomAD v4 |
| 9 | g.92719111C>T | CA5126530 | BICD2 | c.1534G>A (p.Val512Ile) c.1615G>A (p.Val539Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719112G>A | CA196340602 | BICD2 | c.1533C>T (p.Asp511=) c.1614C>T (p.Asp538=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92719112G>C | CA374037467 | BICD2 | c.1533C>G (p.Asp511Glu) c.1614C>G (p.Asp538Glu) | |
| 9 | g.92719112G= | CA1864361689 | BICD2 | c.1533C= (p.Asp511=) c.1614C= (p.Asp538=) | |
| 9 | g.92719112G>T | CA5126532 | BICD2 | c.1533C>A (p.Asp511Glu) c.1614C>A (p.Asp538Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92719113T>A | CA374037471 | BICD2 | c.1532A>T (p.Asp511Val) c.1613A>T (p.Asp538Val) | |
| 9 | g.92719113T>C | CA374037480 | BICD2 | c.1532A>G (p.Asp511Gly) c.1613A>G (p.Asp538Gly) | |
| 9 | g.92719113T>G | CA374037483 | BICD2 | c.1532A>C (p.Asp511Ala) c.1613A>C (p.Asp538Ala) |