Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.92719157G>A | CA5126541 | BICD2 | c.1488C>T (p.Arg496=) c.1569C>T (p.Arg523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719157G>C | CA466342796 | BICD2 | c.1488C>G (p.Arg496=) c.1569C>G (p.Arg523=) | gnomAD v4 |
9 | g.92719157G= | CA1864361787 | BICD2 | c.1488C= (p.Arg496=) c.1569C= (p.Arg523=) | |
9 | g.92719157G>T | CA466342797 | BICD2 | c.1488C>A (p.Arg496=) c.1569C>A (p.Arg523=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719158C>A | CA374037800 | BICD2 | c.1487G>T (p.Arg496Leu) c.1568G>T (p.Arg523Leu) | |
9 | g.92719158C= | CA1864361794 | BICD2 | c.1487G= (p.Arg496=) c.1568G= (p.Arg523=) | |
9 | g.92719158C>G | CA374037793 | BICD2 | c.1487G>C (p.Arg496Pro) c.1568G>C (p.Arg523Pro) | |
9 | g.92719158C>T | CA374037795 | BICD2 | c.1487G>A (p.Arg496His) c.1568G>A (p.Arg523His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719159G>A | CA374037803 | BICD2 | c.1486C>T (p.Arg496Cys) c.1567C>T (p.Arg523Cys) | ClinVar dbSNP gnomAD v4 |
9 | g.92719159G>C | CA374037805 | BICD2 | c.1486C>G (p.Arg496Gly) c.1567C>G (p.Arg523Gly) | |
9 | g.92719159G= | CA1864361796 | BICD2 | c.1486C= (p.Arg496=) c.1567C= (p.Arg523=) | |
9 | g.92719159G>T | CA374037806 | BICD2 | c.1486C>A (p.Arg496Ser) c.1567C>A (p.Arg523Ser) | |
9 | g.92719160G>A | CA466342802 | BICD2 | c.1485C>T (p.Asp495=) c.1566C>T (p.Asp522=) | |
9 | g.92719160G>C | CA374037808 | BICD2 | c.1485C>G (p.Asp495Glu) c.1566C>G (p.Asp522Glu) | |
9 | g.92719160G>T | CA374037810 | BICD2 | c.1485C>A (p.Asp495Glu) c.1566C>A (p.Asp522Glu) | gnomAD v4 |
9 | g.92719161T>A | CA374037812 | BICD2 | c.1484A>T (p.Asp495Val) c.1565A>T (p.Asp522Val) | |
9 | g.92719161T>C | CA374037822 | BICD2 | c.1484A>G (p.Asp495Gly) c.1565A>G (p.Asp522Gly) | |
9 | g.92719161T>G | CA374037827 | BICD2 | c.1484A>C (p.Asp495Ala) c.1565A>C (p.Asp522Ala) | |
9 | g.92719162C>A | CA374037831 | BICD2 | c.1483G>T (p.Asp495Tyr) c.1564G>T (p.Asp522Tyr) | gnomAD v4 |
9 | g.92719162C= | CA1864361800 | BICD2 | c.1483G= (p.Asp495=) c.1564G= (p.Asp522=) | |
9 | g.92719162C>G | CA374037833 | BICD2 | c.1483G>C (p.Asp495His) c.1564G>C (p.Asp522His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719162C>T | CA374037834 | BICD2 | c.1483G>A (p.Asp495Asn) c.1564G>A (p.Asp522Asn) | |
9 | g.92719163C>A | CA374037839 | BICD2 | c.1482G>T (p.Gln494His) c.1563G>T (p.Gln521His) | |
9 | g.92719163C= | CA1864361804 | BICD2 | c.1482G= (p.Gln494=) c.1563G= (p.Gln521=) | |
9 | g.92719163C>G | CA374037835 | BICD2 | c.1482G>C (p.Gln494His) c.1563G>C (p.Gln521His) | |
9 | g.92719163C>T | CA5126542 | BICD2 | c.1482G>A (p.Gln494=) c.1563G>A (p.Gln521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719164T>A | CA374037841 | BICD2 | c.1481A>T (p.Gln494Leu) c.1562A>T (p.Gln521Leu) | |
9 | g.92719164T>C | CA5126543 | BICD2 | c.1481A>G (p.Gln494Arg) c.1562A>G (p.Gln521Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719164T>G | CA374037844 | BICD2 | c.1481A>C (p.Gln494Pro) c.1562A>C (p.Gln521Pro) | |
9 | g.92719164T= | CA1864361806 | BICD2 | c.1481A= (p.Gln494=) c.1562A= (p.Gln521=) | |
9 | g.92719165G>A | CA374037847 | BICD2 | c.1480C>T (p.Gln494Ter) c.1561C>T (p.Gln521Ter) | dbSNP gnomAD v2 |
9 | g.92719165G>C | CA374037848 | BICD2 | c.1480C>G (p.Gln494Glu) c.1561C>G (p.Gln521Glu) | |
9 | g.92719165G= | CA1864361812 | BICD2 | c.1480C= (p.Gln494=) c.1561C= (p.Gln521=) | |
9 | g.92719165G>T | CA374037849 | BICD2 | c.1480C>A (p.Gln494Lys) c.1561C>A (p.Gln521Lys) | gnomAD v4 |
9 | g.92719166G>A | CA5126544 | BICD2 | c.1479C>T (p.Arg493=) c.1560C>T (p.Arg520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719166G>C | CA466342805 | BICD2 | c.1479C>G (p.Arg493=) c.1560C>G (p.Arg520=) | |
9 | g.92719166G= | CA1864361823 | BICD2 | c.1479C= (p.Arg493=) c.1560C= (p.Arg520=) | |
9 | g.92719166G>T | CA466342806 | BICD2 | c.1479C>A (p.Arg493=) c.1560C>A (p.Arg520=) | |
9 | g.92719166_92719167delinsAA | CA915947044 | BICD2 | c.1478_1479delinsTT (p.Arg493Leu) c.1559_1560delinsTT (p.Arg520Leu) | ClinVar dbSNP |
9 | g.92719166_92719167delinsGC | CA1864361821 | BICD2 | c.1478_1479delinsGC (p.Arg493=) c.1559_1560delinsGC (p.Arg520=) | |
9 | g.92719167C>A | CA5126545 | BICD2 | c.1478G>T (p.Arg493Leu) c.1559G>T (p.Arg520Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719167C= | CA1864361825 | BICD2 | c.1478G= (p.Arg493=) c.1559G= (p.Arg520=) | |
9 | g.92719167C>G | CA374037859 | BICD2 | c.1478G>C (p.Arg493Pro) c.1559G>C (p.Arg520Pro) | |
9 | g.92719167C>T | CA5126546 | BICD2 | c.1478G>A (p.Arg493His) c.1559G>A (p.Arg520His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92719168G>A | CA5126547 | BICD2 | c.1477C>T (p.Arg493Cys) c.1558C>T (p.Arg520Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719168G>C | CA374037862 | BICD2 | c.1477C>G (p.Arg493Gly) c.1558C>G (p.Arg520Gly) | |
9 | g.92719168G= | CA1864361829 | BICD2 | c.1477C= (p.Arg493=) c.1558C= (p.Arg520=) | |
9 | g.92719168G>T | CA374037864 | BICD2 | c.1477C>A (p.Arg493Ser) c.1558C>A (p.Arg520Ser) | |
9 | g.92719169G>A | CA466342810 | BICD2 | c.1476C>T (p.Ser492=) c.1557C>T (p.Ser519=) | gnomAD v4 |
9 | g.92719169G>C | CA374037869 | BICD2 | c.1476C>G (p.Ser492Arg) c.1557C>G (p.Ser519Arg) | |
9 | g.92719169G>T | CA374037867 | BICD2 | c.1476C>A (p.Ser492Arg) c.1557C>A (p.Ser519Arg) | gnomAD v4 |
9 | g.92719170C>A | CA374037872 | BICD2 | c.1475G>T (p.Ser492Ile) c.1556G>T (p.Ser519Ile) | |
9 | g.92719170C>G | CA374037880 | BICD2 | c.1475G>C (p.Ser492Thr) c.1556G>C (p.Ser519Thr) | dbSNP |
9 | g.92719170C>T | CA374037874 | BICD2 | c.1475G>A (p.Ser492Asn) c.1556G>A (p.Ser519Asn) | gnomAD v4 |
9 | g.92719171T>A | CA374037884 | BICD2 | c.1474A>T (p.Ser492Cys) c.1555A>T (p.Ser519Cys) | |
9 | g.92719171T>C | CA374037886 | BICD2 | c.1474A>G (p.Ser492Gly) c.1555A>G (p.Ser519Gly) | dbSNP gnomAD v4 |
9 | g.92719171T>G | CA374037885 | BICD2 | c.1474A>C (p.Ser492Arg) c.1555A>C (p.Ser519Arg) | |
9 | g.92719172G>A | CA466342814 | BICD2 | c.1473C>T (p.Ala491=) c.1554C>T (p.Ala518=) | ClinVar gnomAD v4 |
9 | g.92719172G>C | CA466342815 | BICD2 | c.1473C>G (p.Ala491=) c.1554C>G (p.Ala518=) | |
9 | g.92719172G>T | CA466342816 | BICD2 | c.1473C>A (p.Ala491=) c.1554C>A (p.Ala518=) | |
9 | g.92719173G>A | CA374037887 | BICD2 | c.1472C>T (p.Ala491Val) c.1553C>T (p.Ala518Val) | |
9 | g.92719173G>C | CA374037889 | BICD2 | c.1472C>G (p.Ala491Gly) c.1553C>G (p.Ala518Gly) | |
9 | g.92719173G>T | CA374037888 | BICD2 | c.1472C>A (p.Ala491Asp) c.1553C>A (p.Ala518Asp) | |
9 | g.92719174C>A | CA5126548 | BICD2 | c.1471G>T (p.Ala491Ser) c.1552G>T (p.Ala518Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719174C= | CA1864361835 | BICD2 | c.1471G= (p.Ala491=) c.1552G= (p.Ala518=) | |
9 | g.92719174C>G | CA374037895 | BICD2 | c.1471G>C (p.Ala491Pro) c.1552G>C (p.Ala518Pro) | |
9 | g.92719174C>T | CA374037900 | BICD2 | c.1471G>A (p.Ala491Thr) c.1552G>A (p.Ala518Thr) | |
9 | g.92719175C>A | CA374037903 | BICD2 | c.1470G>T (p.Lys490Asn) c.1551G>T (p.Lys517Asn) | gnomAD v4 COSMIC |
9 | g.92719175C>G | CA374037905 | BICD2 | c.1470G>C (p.Lys490Asn) c.1551G>C (p.Lys517Asn) | |
9 | g.92719175C>T | CA466342819 | BICD2 | c.1470G>A (p.Lys490=) c.1551G>A (p.Lys517=) | |
9 | g.92719176T>A | CA374037911 | BICD2 | c.1469A>T (p.Lys490Met) c.1550A>T (p.Lys517Met) | |
9 | g.92719176T>C | CA374037910 | BICD2 | c.1469A>G (p.Lys490Arg) c.1550A>G (p.Lys517Arg) | |
9 | g.92719176T>G | CA374037908 | BICD2 | c.1469A>C (p.Lys490Thr) c.1550A>C (p.Lys517Thr) | |
9 | g.92719177T>A | CA374037915 | BICD2 | c.1468A>T (p.Lys490Ter) c.1549A>T (p.Lys517Ter) | |
9 | g.92719177T>C | CA374037925 | BICD2 | c.1468A>G (p.Lys490Glu) c.1549A>G (p.Lys517Glu) | |
9 | g.92719177T>G | CA374037926 | BICD2 | c.1468A>C (p.Lys490Gln) c.1549A>C (p.Lys517Gln) | |
9 | g.92719178C>A | CA374037934 | BICD2 | c.1467G>T (p.Glu489Asp) c.1548G>T (p.Glu516Asp) | |
9 | g.92719178C= | CA1864361841 | BICD2 | c.1467G= (p.Glu489=) c.1548G= (p.Glu516=) | |
9 | g.92719178C>G | CA374037935 | BICD2 | c.1467G>C (p.Glu489Asp) c.1548G>C (p.Glu516Asp) | |
9 | g.92719178C>T | CA5126549 | BICD2 | c.1467G>A (p.Glu489=) c.1548G>A (p.Glu516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719179T>A | CA374037936 | BICD2 | c.1466A>T (p.Glu489Val) c.1547A>T (p.Glu516Val) | |
9 | g.92719179T>C | CA374037938 | BICD2 | c.1466A>G (p.Glu489Gly) c.1547A>G (p.Glu516Gly) | |
9 | g.92719179T>G | CA374037937 | BICD2 | c.1466A>C (p.Glu489Ala) c.1547A>C (p.Glu516Ala) | |
9 | g.92719179_92719183delinsTCTAG | CA1864361846 | BICD2 | c.1462_1466delinsCTAGA (p.Leu488=) c.1543_1547delinsCTAGA (p.Leu515=) | |
9 | g.92719180C>A | CA5126550 | BICD2 | c.1465G>T (p.Glu489Ter) c.1546G>T (p.Glu516Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719180C= | CA1864361849 | BICD2 | c.1465G= (p.Glu489=) c.1546G= (p.Glu516=) | |
9 | g.92719180C>G | CA374037947 | BICD2 | c.1465G>C (p.Glu489Gln) c.1546G>C (p.Glu516Gln) | |
9 | g.92719180C>T | CA374037951 | BICD2 | c.1465G>A (p.Glu489Lys) c.1546G>A (p.Glu516Lys) | |
9 | g.92719181_92719184del | CA1126797316 | BICD2 | c.1462_1465del (p.Leu488ArgfsTer18) c.1543_1546del (p.Leu515ArgfsTer18) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719181T>A | CA466342823 | BICD2 | c.1464A>T (p.Leu488=) c.1545A>T (p.Leu515=) | |
9 | g.92719181T>C | CA466342825 | BICD2 | c.1464A>G (p.Leu488=) c.1545A>G (p.Leu515=) | dbSNP |
9 | g.92719181T>G | CA466342824 | BICD2 | c.1464A>C (p.Leu488=) c.1545A>C (p.Leu515=) | |
9 | g.92719182A= | CA1864361854 | BICD2 | c.1463T= (p.Leu488=) c.1544T= (p.Leu515=) | |
9 | g.92719182A>C | CA374037952 | BICD2 | c.1463T>G (p.Leu488Arg) c.1544T>G (p.Leu515Arg) | |
9 | g.92719182A>G | CA374037955 | BICD2 | c.1463T>C (p.Leu488Pro) c.1544T>C (p.Leu515Pro) | ClinVar dbSNP |
9 | g.92719182A>T | CA374037958 | BICD2 | c.1463T>A (p.Leu488Gln) c.1544T>A (p.Leu515Gln) | |
9 | g.92719183G>A | CA466342828 | BICD2 | c.1462C>T (p.Leu488=) c.1543C>T (p.Leu515=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719183G>C | CA374037960 | BICD2 | c.1462C>G (p.Leu488Val) c.1543C>G (p.Leu515Val) | |
9 | g.92719183G= | CA1864361859 | BICD2 | c.1462C= (p.Leu488=) c.1543C= (p.Leu515=) | |
9 | g.92719183G>T | CA374037963 | BICD2 | c.1462C>A (p.Leu488Ile) c.1543C>A (p.Leu515Ile) | gnomAD v4 |
9 | g.92719184C>A | CA466342830 | BICD2 | c.1461G>T (p.Leu487=) c.1542G>T (p.Leu514=) | gnomAD v4 |
9 | g.92719184C= | CA1864361862 | BICD2 | c.1461G= (p.Leu487=) c.1542G= (p.Leu514=) | |
9 | g.92719184C>G | CA466342831 | BICD2 | c.1461G>C (p.Leu487=) c.1542G>C (p.Leu514=) | |
9 | g.92719184C>T | CA196340705 | BICD2 | c.1461G>A (p.Leu487=) c.1542G>A (p.Leu514=) | dbSNP |
9 | g.92719185A>C | CA374037964 | BICD2 | c.1460T>G (p.Leu487Arg) c.1541T>G (p.Leu514Arg) | |
9 | g.92719185A>G | CA374037968 | BICD2 | c.1460T>C (p.Leu487Pro) c.1541T>C (p.Leu514Pro) | |
9 | g.92719185A>T | CA374037970 | BICD2 | c.1460T>A (p.Leu487Gln) c.1541T>A (p.Leu514Gln) | |
9 | g.92719186G>A | CA466342835 | BICD2 | c.1459C>T (p.Leu487=) c.1540C>T (p.Leu514=) | |
9 | g.92719186G>C | CA374037974 | BICD2 | c.1459C>G (p.Leu487Val) c.1540C>G (p.Leu514Val) | |
9 | g.92719186G>T | CA374037975 | BICD2 | c.1459C>A (p.Leu487Met) c.1540C>A (p.Leu514Met) | |
9 | g.92719187G>A | CA466342836 | BICD2 | c.1458C>T (p.Ser486=) c.1539C>T (p.Ser513=) | ClinVar dbSNP gnomAD v4 |
9 | g.92719187G>C | CA466342837 | BICD2 | c.1458C>G (p.Ser486=) c.1539C>G (p.Ser513=) | |
9 | g.92719187G= | CA1864361865 | BICD2 | c.1458C= (p.Ser486=) c.1539C= (p.Ser513=) | |
9 | g.92719187G>T | CA466342838 | BICD2 | c.1458C>A (p.Ser486=) c.1539C>A (p.Ser513=) | dbSNP gnomAD v4 |
9 | g.92719188G>A | CA374037977 | BICD2 | c.1457C>T (p.Ser486Phe) c.1538C>T (p.Ser513Phe) | gnomAD v4 |
9 | g.92719188G>C | CA374037981 | BICD2 | c.1457C>G (p.Ser486Cys) c.1538C>G (p.Ser513Cys) | dbSNP gnomAD v4 |
9 | g.92719188G= | CA1864361869 | BICD2 | c.1457C= (p.Ser486=) c.1538C= (p.Ser513=) | |
9 | g.92719188G>T | CA374037979 | BICD2 | c.1457C>A (p.Ser486Tyr) c.1538C>A (p.Ser513Tyr) | |
9 | g.92719189A>C | CA374037985 | BICD2 | c.1456T>G (p.Ser486Ala) c.1537T>G (p.Ser513Ala) | |
9 | g.92719189A>G | CA374037986 | BICD2 | c.1456T>C (p.Ser486Pro) c.1537T>C (p.Ser513Pro) | |
9 | g.92719189A>T | CA374037990 | BICD2 | c.1456T>A (p.Ser486Thr) c.1537T>A (p.Ser513Thr) | |
9 | g.92719190G>A | CA466342840 | BICD2 | c.1455C>T (p.Val485=) c.1536C>T (p.Val512=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719190G>C | CA466342841 | BICD2 | c.1455C>G (p.Val485=) c.1536C>G (p.Val512=) | |
9 | g.92719190G= | CA1864361872 | BICD2 | c.1455C= (p.Val485=) c.1536C= (p.Val512=) | |
9 | g.92719190G>T | CA466342842 | BICD2 | c.1455C>A (p.Val485=) c.1536C>A (p.Val512=) | gnomAD v4 |
9 | g.92719191A>C | CA374037995 | BICD2 | c.1454T>G (p.Val485Gly) c.1535T>G (p.Val512Gly) | |
9 | g.92719191A>G | CA374037996 | BICD2 | c.1454T>C (p.Val485Ala) c.1535T>C (p.Val512Ala) | |
9 | g.92719191A>T | CA374037999 | BICD2 | c.1454T>A (p.Val485Asp) c.1535T>A (p.Val512Asp) | |
9 | g.92719192C>A | CA5126551 | BICD2 | c.1453G>T (p.Val485Phe) c.1534G>T (p.Val512Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719192C= | CA1864361878 | BICD2 | c.1453G= (p.Val485=) c.1534G= (p.Val512=) | |
9 | g.92719192C>G | CA374038001 | BICD2 | c.1453G>C (p.Val485Leu) c.1534G>C (p.Val512Leu) | |
9 | g.92719192C>T | CA374038002 | BICD2 | c.1453G>A (p.Val485Ile) c.1534G>A (p.Val512Ile) | |
9 | g.92719193C>A | CA374038003 | BICD2 | c.1452G>T (p.Lys484Asn) c.1533G>T (p.Lys511Asn) | gnomAD v4 |
9 | g.92719193C>G | CA374038004 | BICD2 | c.1452G>C (p.Lys484Asn) c.1533G>C (p.Lys511Asn) | |
9 | g.92719193C>T | CA466342845 | BICD2 | c.1452G>A (p.Lys484=) c.1533G>A (p.Lys511=) | |
9 | g.92719194T>A | CA374038014 | BICD2 | c.1451A>T (p.Lys484Met) c.1532A>T (p.Lys511Met) | |
9 | g.92719194T>C | CA374038010 | BICD2 | c.1451A>G (p.Lys484Arg) c.1532A>G (p.Lys511Arg) | gnomAD v4 |
9 | g.92719194T>G | CA374038006 | BICD2 | c.1451A>C (p.Lys484Thr) c.1532A>C (p.Lys511Thr) | ClinVar dbSNP |
9 | g.92719195T>A | CA374038018 | BICD2 | c.1450A>T (p.Lys484Ter) c.1531A>T (p.Lys511Ter) | |
9 | g.92719195T>C | CA374038031 | BICD2 | c.1450A>G (p.Lys484Glu) c.1531A>G (p.Lys511Glu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719195T>G | CA374038032 | BICD2 | c.1450A>C (p.Lys484Gln) c.1531A>C (p.Lys511Gln) | |
9 | g.92719195T= | CA1864361882 | BICD2 | c.1450A= (p.Lys484=) c.1531A= (p.Lys511=) | |
9 | g.92719196C>A | CA374038036 | BICD2 | c.1449G>T (p.Glu483Asp) c.1530G>T (p.Glu510Asp) | |
9 | g.92719196C= | CA1864361884 | BICD2 | c.1449G= (p.Glu483=) c.1530G= (p.Glu510=) | |
9 | g.92719196C>G | CA374038041 | BICD2 | c.1449G>C (p.Glu483Asp) c.1530G>C (p.Glu510Asp) | |
9 | g.92719196C>T | CA466342848 | BICD2 | c.1449G>A (p.Glu483=) c.1530G>A (p.Glu510=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719197T>A | CA374038046 | BICD2 | c.1448A>T (p.Glu483Val) c.1529A>T (p.Glu510Val) | dbSNP |
9 | g.92719197T>C | CA374038047 | BICD2 | c.1448A>G (p.Glu483Gly) c.1529A>G (p.Glu510Gly) | |
9 | g.92719197T>G | CA374038048 | BICD2 | c.1448A>C (p.Glu483Ala) c.1529A>C (p.Glu510Ala) | |
9 | g.92719198C>A | CA374038049 | BICD2 | c.1447G>T (p.Glu483Ter) c.1528G>T (p.Glu510Ter) | |
9 | g.92719198C>G | CA374038050 | BICD2 | c.1447G>C (p.Glu483Gln) c.1528G>C (p.Glu510Gln) | |
9 | g.92719198C>T | CA374038051 | BICD2 | c.1447G>A (p.Glu483Lys) c.1528G>A (p.Glu510Lys) | |
9 | g.92719199C>A | CA466342852 | BICD2 | c.1446G>T (p.Thr482=) c.1527G>T (p.Thr509=) | |
9 | g.92719199C= | CA1864361890 | BICD2 | c.1446G= (p.Thr482=) c.1527G= (p.Thr509=) | |
9 | g.92719199C>G | CA466342853 | BICD2 | c.1446G>C (p.Thr482=) c.1527G>C (p.Thr509=) | gnomAD v4 |
9 | g.92719199C>T | CA5126552 | BICD2 | c.1446G>A (p.Thr482=) c.1527G>A (p.Thr509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719200G>A | CA5126553 | BICD2 | c.1445C>T (p.Thr482Met) c.1526C>T (p.Thr509Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719200G>C | CA374038072 | BICD2 | c.1445C>G (p.Thr482Arg) c.1526C>G (p.Thr509Arg) | dbSNP |
9 | g.92719200G= | CA1864361895 | BICD2 | c.1445C= (p.Thr482=) c.1526C= (p.Thr509=) | |
9 | g.92719200G>T | CA374038067 | BICD2 | c.1445C>A (p.Thr482Lys) c.1526C>A (p.Thr509Lys) | |
9 | g.92719201T>A | CA374038074 | BICD2 | c.1444A>T (p.Thr482Ser) c.1525A>T (p.Thr509Ser) | |
9 | g.92719201T>C | CA374038076 | BICD2 | c.1444A>G (p.Thr482Ala) c.1525A>G (p.Thr509Ala) | gnomAD v4 |
9 | g.92719201T>G | CA374038075 | BICD2 | c.1444A>C (p.Thr482Pro) c.1525A>C (p.Thr509Pro) | |
9 | g.92719202G>A | CA466342858 | BICD2 | c.1443C>T (p.Leu481=) c.1524C>T (p.Leu508=) | gnomAD v4 |
9 | g.92719202G>C | CA466342857 | BICD2 | c.1443C>G (p.Leu481=) c.1524C>G (p.Leu508=) | |
9 | g.92719202G= | CA1864361905 | BICD2 | c.1443C= (p.Leu481=) c.1524C= (p.Leu508=) | |
9 | g.92719202G>T | CA5126554 | BICD2 | c.1443C>A (p.Leu481=) c.1524C>A (p.Leu508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719203A= | CA1864361910 | BICD2 | c.1442T= (p.Leu481=) c.1523T= (p.Leu508=) | |
9 | g.92719203A>C | CA374038079 | BICD2 | c.1442T>G (p.Leu481Arg) c.1523T>G (p.Leu508Arg) | |
9 | g.92719203A>G | CA374038080 | BICD2 | c.1442T>C (p.Leu481Pro) c.1523T>C (p.Leu508Pro) | dbSNP |
9 | g.92719203A>T | CA374038082 | BICD2 | c.1442T>A (p.Leu481His) c.1523T>A (p.Leu508His) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719204G>A | CA374038092 | BICD2 | c.1441C>T (p.Leu481Phe) c.1522C>T (p.Leu508Phe) | gnomAD v4 |
9 | g.92719204G>C | CA374038097 | BICD2 | c.1441C>G (p.Leu481Val) c.1522C>G (p.Leu508Val) | |
9 | g.92719204G>T | CA374038098 | BICD2 | c.1441C>A (p.Leu481Ile) c.1522C>A (p.Leu508Ile) | gnomAD v4 |
9 | g.92719205T>A | CA5126555 | BICD2 | c.1440A>T (p.Ala480=) c.1521A>T (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719205T>C | CA466342860 | BICD2 | c.1440A>G (p.Ala480=) c.1521A>G (p.Ala507=) | |
9 | g.92719205T>G | CA466342861 | BICD2 | c.1440A>C (p.Ala480=) c.1521A>C (p.Ala507=) | |
9 | g.92719205T= | CA1864361919 | BICD2 | c.1440A= (p.Ala480=) c.1521A= (p.Ala507=) | |
9 | g.92719206G>A | CA374038099 | BICD2 | c.1439C>T (p.Ala480Val) c.1520C>T (p.Ala507Val) | gnomAD v4 |
9 | g.92719206G>C | CA374038103 | BICD2 | c.1439C>G (p.Ala480Gly) c.1520C>G (p.Ala507Gly) | |
9 | g.92719206G>T | CA374038104 | BICD2 | c.1439C>A (p.Ala480Glu) c.1520C>A (p.Ala507Glu) | |
9 | g.92719207C>A | CA374038111 | BICD2 | c.1438G>T (p.Ala480Ser) c.1519G>T (p.Ala507Ser) | |
9 | g.92719207C= | CA1864361925 | BICD2 | c.1438G= (p.Ala480=) c.1519G= (p.Ala507=) | |
9 | g.92719207C>G | CA374038109 | BICD2 | c.1438G>C (p.Ala480Pro) c.1519G>C (p.Ala507Pro) | |
9 | g.92719207C>T | CA5126556 | BICD2 | c.1438G>A (p.Ala480Thr) c.1519G>A (p.Ala507Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719208C>A | CA374038112 | BICD2 | c.1437G>T (p.Gln479His) c.1518G>T (p.Gln506His) | |
9 | g.92719208C>G | CA374038113 | BICD2 | c.1437G>C (p.Gln479His) c.1518G>C (p.Gln506His) | |
9 | g.92719208C>T | CA466342865 | BICD2 | c.1437G>A (p.Gln479=) c.1518G>A (p.Gln506=) | |
9 | g.92719209T>A | CA374038114 | BICD2 | c.1436A>T (p.Gln479Leu) c.1517A>T (p.Gln506Leu) | |
9 | g.92719209T>C | CA374038115 | BICD2 | c.1436A>G (p.Gln479Arg) c.1517A>G (p.Gln506Arg) | gnomAD v4 |
9 | g.92719209T>G | CA374038116 | BICD2 | c.1436A>C (p.Gln479Pro) c.1517A>C (p.Gln506Pro) | |
9 | g.92719210G>A | CA374038117 | BICD2 | c.1435C>T (p.Gln479Ter) c.1516C>T (p.Gln506Ter) | |
9 | g.92719210G>C | CA374038119 | BICD2 | c.1435C>G (p.Gln479Glu) c.1516C>G (p.Gln506Glu) | |
9 | g.92719210G>T | CA374038121 | BICD2 | c.1435C>A (p.Gln479Lys) c.1516C>A (p.Gln506Lys) | gnomAD v4 |
9 | g.92719211G>A | CA5126557 | BICD2 | c.1434C>T (p.Gly478=) c.1515C>T (p.Gly505=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92719211G>C | CA466342866 | BICD2 | c.1434C>G (p.Gly478=) c.1515C>G (p.Gly505=) | |
9 | g.92719211G= | CA1864361930 | BICD2 | c.1434C= (p.Gly478=) c.1515C= (p.Gly505=) | |
9 | g.92719211G>T | CA466342868 | BICD2 | c.1434C>A (p.Gly478=) c.1515C>A (p.Gly505=) | |
9 | g.92719212C>A | CA374038132 | BICD2 | c.1433G>T (p.Gly478Val) c.1514G>T (p.Gly505Val) | gnomAD v4 |
9 | g.92719212C= | CA1864361936 | BICD2 | c.1433G= (p.Gly478=) c.1514G= (p.Gly505=) | |
9 | g.92719212C>G | CA374038134 | BICD2 | c.1433G>C (p.Gly478Ala) c.1514G>C (p.Gly505Ala) | |
9 | g.92719212C>T | CA374038135 | BICD2 | c.1433G>A (p.Gly478Asp) c.1514G>A (p.Gly505Asp) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719214del | CA2690686269 | BICD2 | c.1433del (p.Gly478AlafsTer11) c.1514del (p.Gly505AlafsTer11) | gnomAD v4 |
9 | g.92719213C>A | CA374038143 | BICD2 | c.1432G>T (p.Gly478Cys) c.1513G>T (p.Gly505Cys) | |
9 | g.92719213C= | CA1864361939 | BICD2 | c.1432G= (p.Gly478=) c.1513G= (p.Gly505=) | |
9 | g.92719213C>G | CA374038140 | BICD2 | c.1432G>C (p.Gly478Arg) c.1513G>C (p.Gly505Arg) | |
9 | g.92719213C>T | CA5126558 | BICD2 | c.1432G>A (p.Gly478Ser) c.1513G>A (p.Gly505Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719214C>A | CA374038149 | BICD2 | c.1431G>T (p.Glu477Asp) c.1512G>T (p.Glu504Asp) | |
9 | g.92719214C= | CA1864361943 | BICD2 | c.1431G= (p.Glu477=) c.1512G= (p.Glu504=) | |
9 | g.92719214C>G | CA374038151 | BICD2 | c.1431G>C (p.Glu477Asp) c.1512G>C (p.Glu504Asp) | |
9 | g.92719214C>T | CA466342873 | BICD2 | c.1431G>A (p.Glu477=) c.1512G>A (p.Glu504=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719215T>A | CA374038155 | BICD2 | c.1430A>T (p.Glu477Val) c.1511A>T (p.Glu504Val) | |
9 | g.92719215T>C | CA374038157 | BICD2 | c.1430A>G (p.Glu477Gly) c.1511A>G (p.Glu504Gly) | |
9 | g.92719215T>G | CA374038160 | BICD2 | c.1430A>C (p.Glu477Ala) c.1511A>C (p.Glu504Ala) | |
9 | g.92719216C>A | CA374038164 | BICD2 | c.1429G>T (p.Glu477Ter) c.1510G>T (p.Glu504Ter) | |
9 | g.92719216C= | CA1864361945 | BICD2 | c.1429G= (p.Glu477=) c.1510G= (p.Glu504=) | |
9 | g.92719216C>G | CA196340755 | BICD2 | c.1429G>C (p.Glu477Gln) c.1510G>C (p.Glu504Gln) | ClinVar dbSNP gnomAD v4 |
9 | g.92719216C>T | CA374038172 | BICD2 | c.1429G>A (p.Glu477Lys) c.1510G>A (p.Glu504Lys) | |
9 | g.92719217A= | CA1864361948 | BICD2 | c.1428T= (p.Ala476=) c.1509T= (p.Ala503=) | |
9 | g.92719217A>C | CA466342974 | BICD2 | c.1428T>G (p.Ala476=) c.1509T>G (p.Ala503=) | ClinVar dbSNP gnomAD v4 |
9 | g.92719217A>G | CA466342976 | BICD2 | c.1428T>C (p.Ala476=) c.1509T>C (p.Ala503=) | |
9 | g.92719217A>T | CA466342979 | BICD2 | c.1428T>A (p.Ala476=) c.1509T>A (p.Ala503=) | |
9 | g.92719218G>A | CA374038180 | BICD2 | c.1427C>T (p.Ala476Val) c.1508C>T (p.Ala503Val) | |
9 | g.92719218G>C | CA5126559 | BICD2 | c.1427C>G (p.Ala476Gly) c.1508C>G (p.Ala503Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719218G= | CA1864361951 | BICD2 | c.1427C= (p.Ala476=) c.1508C= (p.Ala503=) | |
9 | g.92719218G>T | CA374038184 | BICD2 | c.1427C>A (p.Ala476Asp) c.1508C>A (p.Ala503Asp) | |
9 | g.92719219C>A | CA374038185 | BICD2 | c.1426G>T (p.Ala476Ser) c.1507G>T (p.Ala503Ser) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719219C= | CA1864361957 | BICD2 | c.1426G= (p.Ala476=) c.1507G= (p.Ala503=) | |
9 | g.92719219C>G | CA374038186 | BICD2 | c.1426G>C (p.Ala476Pro) c.1507G>C (p.Ala503Pro) | |
9 | g.92719219C>T | CA374038187 | BICD2 | c.1426G>A (p.Ala476Thr) c.1507G>A (p.Ala503Thr) | gnomAD v4 |
9 | g.92719220C>A | CA374038188 | BICD2 | c.1425G>T (p.Glu475Asp) c.1506G>T (p.Glu502Asp) | |
9 | g.92719220C>G | CA374038189 | BICD2 | c.1425G>C (p.Glu475Asp) c.1506G>C (p.Glu502Asp) | |
9 | g.92719220C>T | CA466342984 | BICD2 | c.1425G>A (p.Glu475=) c.1506G>A (p.Glu502=) | |
9 | g.92719221T>A | CA374038192 | BICD2 | c.1424A>T (p.Glu475Val) c.1505A>T (p.Glu502Val) | |
9 | g.92719221T>C | CA374038194 | BICD2 | c.1424A>G (p.Glu475Gly) c.1505A>G (p.Glu502Gly) | |
9 | g.92719221T>G | CA374038197 | BICD2 | c.1424A>C (p.Glu475Ala) c.1505A>C (p.Glu502Ala) | gnomAD v4 |
9 | g.92719222C>A | CA374038209 | BICD2 | c.1423G>T (p.Glu475Ter) c.1504G>T (p.Glu502Ter) | |
9 | g.92719222C>G | CA374038216 | BICD2 | c.1423G>C (p.Glu475Gln) c.1504G>C (p.Glu502Gln) | |
9 | g.92719222C>T | CA374038217 | BICD2 | c.1423G>A (p.Glu475Lys) c.1504G>A (p.Glu502Lys) | |
9 | g.92719223A>C | CA374038218 | BICD2 | c.1422T>G (p.Tyr474Ter) c.1503T>G (p.Tyr501Ter) | |
9 | g.92719223A>G | CA466342990 | BICD2 | c.1422T>C (p.Tyr474=) c.1503T>C (p.Tyr501=) | |
9 | g.92719223A>T | CA374038219 | BICD2 | c.1422T>A (p.Tyr474Ter) c.1503T>A (p.Tyr501Ter) | |
9 | g.92719224T>A | CA374038222 | BICD2 | c.1421A>T (p.Tyr474Phe) c.1502A>T (p.Tyr501Phe) | |
9 | g.92719224T>C | CA16605541 | BICD2 | c.1421A>G (p.Tyr474Cys) c.1502A>G (p.Tyr501Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719224T>G | CA374038229 | BICD2 | c.1421A>C (p.Tyr474Ser) c.1502A>C (p.Tyr501Ser) | |
9 | g.92719224T= | CA1864361960 | BICD2 | c.1421A= (p.Tyr474=) c.1502A= (p.Tyr501=) | |
9 | g.92719225A= | CA1864361966 | BICD2 | c.1420T= (p.Tyr474=) c.1501T= (p.Tyr501=) | |
9 | g.92719225A>C | CA374038233 | BICD2 | c.1420T>G (p.Tyr474Asp) c.1501T>G (p.Tyr501Asp) | |
9 | g.92719225A>G | CA196340760 | BICD2 | c.1420T>C (p.Tyr474His) c.1501T>C (p.Tyr501His) | dbSNP gnomAD v4 |
9 | g.92719225A>T | CA374038237 | BICD2 | c.1420T>A (p.Tyr474Asn) c.1501T>A (p.Tyr501Asn) | |
9 | g.92719226G>A | CA466342996 | BICD2 | c.1419C>T (p.Arg473=) c.1500C>T (p.Arg500=) | |
9 | g.92719226G>C | CA466342998 | BICD2 | c.1419C>G (p.Arg473=) c.1500C>G (p.Arg500=) | gnomAD v4 |
9 | g.92719226G>T | CA466343000 | BICD2 | c.1419C>A (p.Arg473=) c.1500C>A (p.Arg500=) | |
9 | g.92719227C>A | CA374038238 | BICD2 | c.1418G>T (p.Arg473Leu) c.1499G>T (p.Arg500Leu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719227C= | CA1864361968 | BICD2 | c.1418G= (p.Arg473=) c.1499G= (p.Arg500=) | |
9 | g.92719227C>G | CA374038239 | BICD2 | c.1418G>C (p.Arg473Pro) c.1499G>C (p.Arg500Pro) | |
9 | g.92719227C>T | CA5126560 | BICD2 | c.1418G>A (p.Arg473His) c.1499G>A (p.Arg500His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.92719228G>A | CA5126561 | BICD2 | c.1417C>T (p.Arg473Cys) c.1498C>T (p.Arg500Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.92719228G>C | CA374038243 | BICD2 | c.1417C>G (p.Arg473Gly) c.1498C>G (p.Arg500Gly) | |
9 | g.92719228G= | CA1864361972 | BICD2 | c.1417C= (p.Arg473=) c.1498C= (p.Arg500=) | |
9 | g.92719228G>T | CA374038246 | BICD2 | c.1417C>A (p.Arg473Ser) c.1498C>A (p.Arg500Ser) | gnomAD v4 |
9 | g.92719229G>A | CA466343005 | BICD2 | c.1416C>T (p.Gly472=) c.1497C>T (p.Gly499=) | |
9 | g.92719229G>C | CA466343006 | BICD2 | c.1416C>G (p.Gly472=) c.1497C>G (p.Gly499=) | |
9 | g.92719229G>T | CA466343008 | BICD2 | c.1416C>A (p.Gly472=) c.1497C>A (p.Gly499=) | |
9 | g.92719230C>A | CA374038255 | BICD2 | c.1415G>T (p.Gly472Val) c.1496G>T (p.Gly499Val) | COSMIC |
9 | g.92719230C>G | CA374038250 | BICD2 | c.1415G>C (p.Gly472Ala) c.1496G>C (p.Gly499Ala) | |
9 | g.92719230C>T | CA374038252 | BICD2 | c.1415G>A (p.Gly472Asp) c.1496G>A (p.Gly499Asp) | |
9 | g.92719231C>A | CA374038259 | BICD2 | c.1414G>T (p.Gly472Cys) c.1495G>T (p.Gly499Cys) | |
9 | g.92719231C= | CA1864361975 | BICD2 | c.1414G= (p.Gly472=) c.1495G= (p.Gly499=) | |
9 | g.92719231C>G | CA374038261 | BICD2 | c.1414G>C (p.Gly472Arg) c.1495G>C (p.Gly499Arg) | |
9 | g.92719231C>T | CA374038269 | BICD2 | c.1414G>A (p.Gly472Ser) c.1495G>A (p.Gly499Ser) | ClinVar dbSNP gnomAD v4 |
9 | g.92719232C>A | CA374038272 | BICD2 | c.1413G>T (p.Lys471Asn) c.1494G>T (p.Lys498Asn) | |
9 | g.92719232C= | CA1864361979 | BICD2 | c.1413G= (p.Lys471=) c.1494G= (p.Lys498=) | |
9 | g.92719232C>G | CA374038275 | BICD2 | c.1413G>C (p.Lys471Asn) c.1494G>C (p.Lys498Asn) | |
9 | g.92719232C>T | CA466343015 | BICD2 | c.1413G>A (p.Lys471=) c.1494G>A (p.Lys498=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719233T>A | CA374038301 | BICD2 | c.1412A>T (p.Lys471Met) c.1493A>T (p.Lys498Met) | |
9 | g.92719233T>C | CA374038294 | BICD2 | c.1412A>G (p.Lys471Arg) c.1493A>G (p.Lys498Arg) | dbSNP |
9 | g.92719233T>G | CA374038297 | BICD2 | c.1412A>C (p.Lys471Thr) c.1493A>C (p.Lys498Thr) | |
9 | g.92719234T>A | CA374038302 | BICD2 | c.1411A>T (p.Lys471Ter) c.1492A>T (p.Lys498Ter) | |
9 | g.92719234T>C | CA374038303 | BICD2 | c.1411A>G (p.Lys471Glu) c.1492A>G (p.Lys498Glu) | |
9 | g.92719234T>G | CA374038304 | BICD2 | c.1411A>C (p.Lys471Gln) c.1492A>C (p.Lys498Gln) | |
9 | g.92719234T= | CA1864361982 | BICD2 | c.1411A= (p.Lys471=) c.1492A= (p.Lys498=) | |
9 | g.92719234_92719235insTGTGA | CA918508461 | BICD2 | c.1410_1411insTCACA (p.Lys471SerfsTer20) c.1491_1492insTCACA (p.Lys498SerfsTer20) | dbSNP |
9 | g.92719235C>A | CA374038306 | BICD2 | c.1410G>T (p.Glu470Asp) c.1491G>T (p.Glu497Asp) | |
9 | g.92719235C= | CA1864361988 | BICD2 | c.1410G= (p.Glu470=) c.1491G= (p.Glu497=) | |
9 | g.92719235C>G | CA374038308 | BICD2 | c.1410G>C (p.Glu470Asp) c.1491G>C (p.Glu497Asp) | |
9 | g.92719235C>T | CA466343018 | BICD2 | c.1410G>A (p.Glu470=) c.1491G>A (p.Glu497=) | |
9 | g.92719235_92719236insAAACCCTGGGGATGGACTCCAGCAGCTACGCCATGGGGAG | CA918508462 | BICD2 | c.1409_1410insCTCCCCATGGCGTAGCTGCTGGAGTCCATCCCCAGGGTTT (p.Glu470AspfsTer19) c.1490_1491insCTCCCCATGGCGTAGCTGCTGGAGTCCATCCCCAGGGTTT (p.Glu497AspfsTer19) | dbSNP |
9 | g.92719236T>A | CA374038312 | BICD2 | c.1409A>T (p.Glu470Val) c.1490A>T (p.Glu497Val) | |
9 | g.92719236T>C | CA374038314 | BICD2 | c.1409A>G (p.Glu470Gly) c.1490A>G (p.Glu497Gly) | |
9 | g.92719236T>G | CA374038317 | BICD2 | c.1409A>C (p.Glu470Ala) c.1490A>C (p.Glu497Ala) | |
9 | g.92719237C>A | CA374038326 | BICD2 | c.1408G>T (p.Glu470Ter) c.1489G>T (p.Glu497Ter) | |
9 | g.92719237C>G | CA374038329 | BICD2 | c.1408G>C (p.Glu470Gln) c.1489G>C (p.Glu497Gln) | |
9 | g.92719237C>T | CA374038330 | BICD2 | c.1408G>A (p.Glu470Lys) c.1489G>A (p.Glu497Lys) | |
9 | g.92719238C>A | CA374038331 | BICD2 | c.1407G>T (p.Glu469Asp) c.1488G>T (p.Glu496Asp) | |
9 | g.92719238C= | CA1864361994 | BICD2 | c.1407G= (p.Glu469=) c.1488G= (p.Glu496=) | |
9 | g.92719238C>G | CA374038332 | BICD2 | c.1407G>C (p.Glu469Asp) c.1488G>C (p.Glu496Asp) | ClinVar dbSNP |
9 | g.92719238C>T | CA466343021 | BICD2 | c.1407G>A (p.Glu469=) c.1488G>A (p.Glu496=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719239T>A | CA374038333 | BICD2 | c.1406A>T (p.Glu469Val) c.1487A>T (p.Glu496Val) | gnomAD v4 |
9 | g.92719239T>C | CA374038336 | BICD2 | c.1406A>G (p.Glu469Gly) c.1487A>G (p.Glu496Gly) | |
9 | g.92719239T>G | CA374038334 | BICD2 | c.1406A>C (p.Glu469Ala) c.1487A>C (p.Glu496Ala) | |
9 | g.92719240C>A | CA374038339 | BICD2 | c.1405G>T (p.Glu469Ter) c.1486G>T (p.Glu496Ter) | |
9 | g.92719240C= | CA1864361997 | BICD2 | c.1405G= (p.Glu469=) c.1486G= (p.Glu496=) | |
9 | g.92719240C>G | CA374038341 | BICD2 | c.1405G>C (p.Glu469Gln) c.1486G>C (p.Glu496Gln) | ClinVar dbSNP |
9 | g.92719240C>T | CA5126562 | BICD2 | c.1405G>A (p.Glu469Lys) c.1486G>A (p.Glu496Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719241G>A | CA5126563 | BICD2 | c.1404C>T (p.Ala468=) c.1485C>T (p.Ala495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719241G>C | CA466343026 | BICD2 | c.1404C>G (p.Ala468=) c.1485C>G (p.Ala495=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719241G= | CA1864361999 | BICD2 | c.1404C= (p.Ala468=) c.1485C= (p.Ala495=) | |
9 | g.92719241G>T | CA466343028 | BICD2 | c.1404C>A (p.Ala468=) c.1485C>A (p.Ala495=) | |
9 | g.92719242G>A | CA374038343 | BICD2 | c.1403C>T (p.Ala468Val) c.1484C>T (p.Ala495Val) | |
9 | g.92719242G>C | CA374038344 | BICD2 | c.1403C>G (p.Ala468Gly) c.1484C>G (p.Ala495Gly) | |
9 | g.92719242G>T | CA374038345 | BICD2 | c.1403C>A (p.Ala468Asp) c.1484C>A (p.Ala495Asp) | gnomAD v4 |
9 | g.92719243C>A | CA374038347 | BICD2 | c.1402G>T (p.Ala468Ser) c.1483G>T (p.Ala495Ser) | |
9 | g.92719243C= | CA1864362002 | BICD2 | c.1402G= (p.Ala468=) c.1483G= (p.Ala495=) | |
9 | g.92719243C>G | CA374038349 | BICD2 | c.1402G>C (p.Ala468Pro) c.1483G>C (p.Ala495Pro) | |
9 | g.92719243C>T | CA5126564 | BICD2 | c.1402G>A (p.Ala468Thr) c.1483G>A (p.Ala495Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.92719244G>A | CA5126565 | BICD2 | c.1401C>T (p.His467=) c.1482C>T (p.His494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719244G>C | CA374038357 | BICD2 | c.1401C>G (p.His467Gln) c.1482C>G (p.His494Gln) | |
9 | g.92719244G= | CA1864362007 | BICD2 | c.1401C= (p.His467=) c.1482C= (p.His494=) | |
9 | g.92719244G>T | CA374038360 | BICD2 | c.1401C>A (p.His467Gln) c.1482C>A (p.His494Gln) | |
9 | g.92719245T>A | CA374038373 | BICD2 | c.1400A>T (p.His467Leu) c.1481A>T (p.His494Leu) | |
9 | g.92719245T>C | CA374038365 | BICD2 | c.1400A>G (p.His467Arg) c.1481A>G (p.His494Arg) | ClinVar dbSNP |
9 | g.92719245T>G | CA374038370 | BICD2 | c.1400A>C (p.His467Pro) c.1481A>C (p.His494Pro) | |
9 | g.92719245T= | CA1864362010 | BICD2 | c.1400A= (p.His467=) c.1481A= (p.His494=) | |
9 | g.92719246G>A | CA374038378 | BICD2 | c.1399C>T (p.His467Tyr) c.1480C>T (p.His494Tyr) | |
9 | g.92719246G>C | CA374038382 | BICD2 | c.1399C>G (p.His467Asp) c.1480C>G (p.His494Asp) | |
9 | g.92719246G>T | CA374038385 | BICD2 | c.1399C>A (p.His467Asn) c.1480C>A (p.His494Asn) | |
9 | g.92719247C>A | CA374038389 | BICD2 | c.1398G>T (p.Gln466His) c.1479G>T (p.Gln493His) | dbSNP gnomAD v4 |
9 | g.92719247C= | CA1864362015 | BICD2 | c.1398G= (p.Gln466=) c.1479G= (p.Gln493=) | |
9 | g.92719247C>G | CA374038391 | BICD2 | c.1398G>C (p.Gln466His) c.1479G>C (p.Gln493His) | |
9 | g.92719247C>T | CA466343037 | BICD2 | c.1398G>A (p.Gln466=) c.1479G>A (p.Gln493=) | ClinVar dbSNP COSMIC COSMIC |
9 | g.92719248T>A | CA374038395 | BICD2 | c.1397A>T (p.Gln466Leu) c.1478A>T (p.Gln493Leu) | |
9 | g.92719248T>C | CA374038398 | BICD2 | c.1397A>G (p.Gln466Arg) c.1478A>G (p.Gln493Arg) | ClinVar |
9 | g.92719248T>G | CA374038409 | BICD2 | c.1397A>C (p.Gln466Pro) c.1478A>C (p.Gln493Pro) | |
9 | g.92719249G>A | CA374038413 | BICD2 | c.1396C>T (p.Gln466Ter) c.1477C>T (p.Gln493Ter) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92719249G>C | CA374038415 | BICD2 | c.1396C>G (p.Gln466Glu) c.1477C>G (p.Gln493Glu) | |
9 | g.92719249G= | CA1864362020 | BICD2 | c.1396C= (p.Gln466=) c.1477C= (p.Gln493=) | |
9 | g.92719249G>T | CA374038417 | BICD2 | c.1396C>A (p.Gln466Lys) c.1477C>A (p.Gln493Lys) | |
9 | g.92719250G>A | CA466343041 | BICD2 | c.1395C>T (p.Ala465=) c.1476C>T (p.Ala492=) | |
9 | g.92719250G>C | CA466343040 | BICD2 | c.1395C>G (p.Ala465=) c.1476C>G (p.Ala492=) | |
9 | g.92719250G>T | CA466343039 | BICD2 | c.1395C>A (p.Ala465=) c.1476C>A (p.Ala492=) | |
9 | g.92719251G>A | CA374038421 | BICD2 | c.1394C>T (p.Ala465Val) c.1475C>T (p.Ala492Val) | |
9 | g.92719251G>C | CA5126566 | BICD2 | c.1394C>G (p.Ala465Gly) c.1475C>G (p.Ala492Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92719251G= | CA1864362024 | BICD2 | c.1394C= (p.Ala465=) c.1475C= (p.Ala492=) | |
9 | g.92719251G>T | CA374038425 | BICD2 | c.1394C>A (p.Ala465Asp) c.1475C>A (p.Ala492Asp) | gnomAD v4 |
9 | g.92719252C>A | CA374038429 | BICD2 | c.1393G>T (p.Ala465Ser) c.1474G>T (p.Ala492Ser) | |
9 | g.92719252C>G | CA374038431 | BICD2 | c.1393G>C (p.Ala465Pro) c.1474G>C (p.Ala492Pro) | |
9 | g.92719252C>T | CA374038430 | BICD2 | c.1393G>A (p.Ala465Thr) c.1474G>A (p.Ala492Thr) | gnomAD v4 |
9 | g.92719252_92719253insGTCGGCCAG | CA2516659529 | BICD2 | c.1392_1393insCTGGCCGAC (p.Glu464_Ala465insLeuAlaAsp) c.1473_1474insCTGGCCGAC (p.Glu491_Ala492insLeuAlaAsp) | |
9 | g.92719253C>A | CA374038434 | BICD2 | c.1392G>T (p.Glu464Asp) c.1473G>T (p.Glu491Asp) | |
9 | g.92719253C= | CA1864362029 | BICD2 | c.1392G= (p.Glu464=) c.1473G= (p.Glu491=) | |
9 | g.92719253C>G | CA374038437 | BICD2 | c.1392G>C (p.Glu464Asp) c.1473G>C (p.Glu491Asp) | |
9 | g.92719253C>T | CA196340808 | BICD2 | c.1392G>A (p.Glu464=) c.1473G>A (p.Glu491=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92719254T>A | CA374038444 | BICD2 | c.1391A>T (p.Glu464Val) c.1472A>T (p.Glu491Val) | |
9 | g.92719254T>C | CA374038446 | BICD2 | c.1391A>G (p.Glu464Gly) c.1472A>G (p.Glu491Gly) | |
9 | g.92719254T>G | CA374038448 | BICD2 | c.1391A>C (p.Glu464Ala) c.1472A>C (p.Glu491Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92719254T= | CA1864362032 | BICD2 | c.1391A= (p.Glu464=) c.1472A= (p.Glu491=) | |
9 | g.92719255C>A | CA374038454 | BICD2 | c.1390G>T (p.Glu464Ter) c.1471G>T (p.Glu491Ter) | |
9 | g.92719255C>G | CA374038457 | BICD2 | c.1390G>C (p.Glu464Gln) c.1471G>C (p.Glu491Gln) | |
9 | g.92719255C>T | CA374038461 | BICD2 | c.1390G>A (p.Glu464Lys) c.1471G>A (p.Glu491Lys) | |
9 | g.92719255_92719256insGAAGGCCATCGTGGCCTGCCCCGCCACCAGCTCGGCGATCTCCAGGTCCTGGGCGGTGAAGGGCGCCGCACCCGGGGAGCGCAGCAGCAGCATGACCCCCACGCCCCGCCCCCGGTGG | CA2537798908 | BICD2 | c.1389_1390insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu464ProfsTer51) c.1470_1471insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu491ProfsTer51) | |
9 | g.92719256A>C | CA466343048 | BICD2 | c.1389T>G (p.Arg463=) c.1470T>G (p.Arg490=) | |
9 | g.92719256A>G | CA466343050 | BICD2 | c.1389T>C (p.Arg463=) c.1470T>C (p.Arg490=) | gnomAD v4 |
9 | g.92719256A>T | CA466343049 | BICD2 | c.1389T>A (p.Arg463=) c.1470T>A (p.Arg490=) | |
9 | g.92719257C>A | CA374038466 | BICD2 | c.1388G>T (p.Arg463Leu) c.1469G>T (p.Arg490Leu) | gnomAD v4 |
9 | g.92719257C= | CA1864362036 | BICD2 | c.1388G= (p.Arg463=) c.1469G= (p.Arg490=) | |
9 | g.92719257C>G | CA374038469 | BICD2 | c.1388G>C (p.Arg463Pro) c.1469G>C (p.Arg490Pro) | dbSNP |
9 | g.92719257C>T | CA5126567 | BICD2 | c.1388G>A (p.Arg463His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |