Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.92718642T>A | CA374034457 | BICD2 | c.2003A>T (p.Asp668Val) c.2084A>T (p.Asp695Val) | |
9 | g.92718642T>C | CA374034460 | BICD2 | c.2003A>G (p.Asp668Gly) c.2084A>G (p.Asp695Gly) | |
9 | g.92718642T>G | CA374034463 | BICD2 | c.2003A>C (p.Asp668Ala) c.2084A>C (p.Asp695Ala) | |
9 | g.92718643C>A | CA374034467 | BICD2 | c.2002G>T (p.Asp668Tyr) c.2083G>T (p.Asp695Tyr) | |
9 | g.92718643C>G | CA374034474 | BICD2 | c.2002G>C (p.Asp668His) c.2083G>C (p.Asp695His) | |
9 | g.92718643C>T | CA374034479 | BICD2 | c.2002G>A (p.Asp668Asn) c.2083G>A (p.Asp695Asn) | gnomAD v4 |
9 | g.92718644C>A | CA374034483 | BICD2 | c.2001G>T (p.Lys667Asn) c.2082G>T (p.Lys694Asn) | COSMIC COSMIC |
9 | g.92718644C= | CA1864360597 | BICD2 | c.2001G= (p.Lys667=) c.2082G= (p.Lys694=) | |
9 | g.92718644C>G | CA374034488 | BICD2 | c.2001G>C (p.Lys667Asn) c.2082G>C (p.Lys694Asn) | |
9 | g.92718644C>T | CA466342769 | BICD2 | c.2001G>A (p.Lys667=) c.2082G>A (p.Lys694=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718645T>A | CA374034496 | BICD2 | c.2000A>T (p.Lys667Met) c.2081A>T (p.Lys694Met) | |
9 | g.92718645T>C | CA374034501 | BICD2 | c.2000A>G (p.Lys667Arg) c.2081A>G (p.Lys694Arg) | |
9 | g.92718645T>G | CA374034491 | BICD2 | c.2000A>C (p.Lys667Thr) c.2081A>C (p.Lys694Thr) | |
9 | g.92718646T>A | CA374034510 | BICD2 | c.1999A>T (p.Lys667Ter) c.2080A>T (p.Lys694Ter) | |
9 | g.92718646T>C | CA374034504 | BICD2 | c.1999A>G (p.Lys667Glu) c.2080A>G (p.Lys694Glu) | gnomAD v4 |
9 | g.92718646T>G | CA374034507 | BICD2 | c.1999A>C (p.Lys667Gln) c.2080A>C (p.Lys694Gln) | |
9 | g.92718647G>A | CA466342774 | BICD2 | c.1998C>T (p.Asp666=) c.2079C>T (p.Asp693=) | |
9 | g.92718647G>C | CA374034514 | BICD2 | c.1998C>G (p.Asp666Glu) c.2079C>G (p.Asp693Glu) | |
9 | g.92718647G= | CA1864360602 | BICD2 | c.1998C= (p.Asp666=) c.2079C= (p.Asp693=) | |
9 | g.92718647G>T | CA374034517 | BICD2 | c.1998C>A (p.Asp666Glu) c.2079C>A (p.Asp693Glu) | gnomAD v4 |
9 | g.92718656_92718715del | CA2695201604 | BICD2 | c.1939_1998del (p.Arg647_Asp666del) c.2020_2079del (p.Arg674_Asp693del) | ClinVar |
9 | g.92718648T>A | CA374034521 | BICD2 | c.1997A>T (p.Asp666Val) c.2078A>T (p.Asp693Val) | |
9 | g.92718648T>C | CA374034524 | BICD2 | c.1997A>G (p.Asp666Gly) c.2078A>G (p.Asp693Gly) | gnomAD v4 |
9 | g.92718648T>G | CA374034525 | BICD2 | c.1997A>C (p.Asp666Ala) c.2078A>C (p.Asp693Ala) | ClinVar dbSNP gnomAD v4 |
9 | g.92718648T= | CA1864360606 | BICD2 | c.1997A= (p.Asp666=) c.2078A= (p.Asp693=) | |
9 | g.92718650_92718651insTTCTCC | CA1864360607 | BICD2 | c.1997_1998insGAAGGA (p.Val665_Asp666insGluLys) c.2078_2079insGAAGGA (p.Val692_Asp693insGluLys) | dbSNP |
9 | g.92718649C>A | CA374034526 | BICD2 | c.1996G>T (p.Asp666Tyr) c.2077G>T (p.Asp693Tyr) | |
9 | g.92718649C>G | CA374034527 | BICD2 | c.1996G>C (p.Asp666His) c.2077G>C (p.Asp693His) | |
9 | g.92718649C>T | CA374034528 | BICD2 | c.1996G>A (p.Asp666Asn) c.2077G>A (p.Asp693Asn) | |
9 | g.92718650C>A | CA466342779 | BICD2 | c.1995G>T (p.Val665=) c.2076G>T (p.Val692=) | |
9 | g.92718650C= | CA1864360611 | BICD2 | c.1995G= (p.Val665=) c.2076G= (p.Val692=) | |
9 | g.92718650C>G | CA466342780 | BICD2 | c.1995G>C (p.Val665=) c.2076G>C (p.Val692=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718650C>T | CA466342781 | BICD2 | c.1995G>A (p.Val665=) c.2076G>A (p.Val692=) | |
9 | g.92718651A>C | CA374034532 | BICD2 | c.1994T>G (p.Val665Gly) c.2075T>G (p.Val692Gly) | |
9 | g.92718651A>G | CA374034534 | BICD2 | c.1994T>C (p.Val665Ala) c.2075T>C (p.Val692Ala) | |
9 | g.92718651A>T | CA374034537 | BICD2 | c.1994T>A (p.Val665Glu) c.2075T>A (p.Val692Glu) | |
9 | g.92718652C>A | CA233053 | BICD2 | c.1993G>T (p.Val665Leu) c.2074G>T (p.Val692Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718652C= | CA1864360615 | BICD2 | c.1993G= (p.Val665=) c.2074G= (p.Val692=) | |
9 | g.92718652C>G | CA374034539 | BICD2 | c.1993G>C (p.Val665Leu) c.2074G>C (p.Val692Leu) | |
9 | g.92718652C>T | CA5126432 | BICD2 | c.1993G>A (p.Val665Met) c.2074G>A (p.Val692Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718653G>A | CA5126433 | BICD2 | c.1992C>T (p.Ala664=) c.2073C>T (p.Ala691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718653G>C | CA466342785 | BICD2 | c.1992C>G (p.Ala664=) c.2073C>G (p.Ala691=) | |
9 | g.92718653G= | CA1864360619 | BICD2 | c.1992C= (p.Ala664=) c.2073C= (p.Ala691=) | |
9 | g.92718653G>T | CA466342786 | BICD2 | c.1992C>A (p.Ala664=) c.2073C>A (p.Ala691=) | |
9 | g.92718654G>A | CA374034542 | BICD2 | c.1991C>T (p.Ala664Val) c.2072C>T (p.Ala691Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92718654G>C | CA374034543 | BICD2 | c.1991C>G (p.Ala664Gly) c.2072C>G (p.Ala691Gly) | |
9 | g.92718654G= | CA1864360620 | BICD2 | c.1991C= (p.Ala664=) c.2072C= (p.Ala691=) | |
9 | g.92718654G>T | CA374034546 | BICD2 | c.1991C>A (p.Ala664Asp) c.2072C>A (p.Ala691Asp) | |
9 | g.92718655C>A | CA374034553 | BICD2 | c.1990G>T (p.Ala664Ser) c.2071G>T (p.Ala691Ser) | |
9 | g.92718655C= | CA1864360621 | BICD2 | c.1990G= (p.Ala664=) c.2071G= (p.Ala691=) | |
9 | g.92718655C>G | CA374034562 | BICD2 | c.1990G>C (p.Ala664Pro) c.2071G>C (p.Ala691Pro) | |
9 | g.92718655C>T | CA5126434 | BICD2 | c.1990G>A (p.Ala664Thr) c.2071G>A (p.Ala691Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.92718656G>A | CA5126435 | BICD2 | c.1989C>T (p.Pro663=) c.2070C>T (p.Pro690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718656G>C | CA466342791 | BICD2 | c.1989C>G (p.Pro663=) c.2070C>G (p.Pro690=) | |
9 | g.92718656G= | CA1864360623 | BICD2 | c.1989C= (p.Pro663=) c.2070C= (p.Pro690=) | |
9 | g.92718656G>T | CA466342792 | BICD2 | c.1989C>A (p.Pro663=) c.2070C>A (p.Pro690=) | |
9 | g.92718657G>A | CA374034566 | BICD2 | c.1988C>T (p.Pro663Leu) c.2069C>T (p.Pro690Leu) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718657G>C | CA374034573 | BICD2 | c.1988C>G (p.Pro663Arg) c.2069C>G (p.Pro690Arg) | |
9 | g.92718657G= | CA1864360629 | BICD2 | c.1988C= (p.Pro663=) c.2069C= (p.Pro690=) | |
9 | g.92718657G>T | CA374034576 | BICD2 | c.1988C>A (p.Pro663His) c.2069C>A (p.Pro690His) | COSMIC COSMIC |
9 | g.92718658G>A | CA5126436 | BICD2 | c.1987C>T (p.Pro663Ser) c.2068C>T (p.Pro690Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718658G>C | CA374034590 | BICD2 | c.1987C>G (p.Pro663Ala) c.2068C>G (p.Pro690Ala) | |
9 | g.92718658G= | CA1864360633 | BICD2 | c.1987C= (p.Pro663=) c.2068C= (p.Pro690=) | |
9 | g.92718658G>T | CA374034580 | BICD2 | c.1987C>A (p.Pro663Thr) c.2068C>A (p.Pro690Thr) | |
9 | g.92718659G>A | CA466342793 | BICD2 | c.1986C>T (p.Gly662=) c.2067C>T (p.Gly689=) | dbSNP gnomAD v4 |
9 | g.92718659G>C | CA466342794 | BICD2 | c.1986C>G (p.Gly662=) c.2067C>G (p.Gly689=) | |
9 | g.92718659G= | CA1864360636 | BICD2 | c.1986C= (p.Gly662=) c.2067C= (p.Gly689=) | |
9 | g.92718659G>T | CA466342795 | BICD2 | c.1986C>A (p.Gly662=) c.2067C>A (p.Gly689=) | |
9 | g.92718660C>A | CA374034593 | BICD2 | c.1985G>T (p.Gly662Val) c.2066G>T (p.Gly689Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718660C= | CA1864360638 | BICD2 | c.1985G= (p.Gly662=) c.2066G= (p.Gly689=) | |
9 | g.92718660C>G | CA374034595 | BICD2 | c.1985G>C (p.Gly662Ala) c.2066G>C (p.Gly689Ala) | |
9 | g.92718660C>T | CA374034605 | BICD2 | c.1985G>A (p.Gly662Asp) c.2066G>A (p.Gly689Asp) | |
9 | g.92718661C>A | CA374034609 | BICD2 | c.1984G>T (p.Gly662Cys) c.2065G>T (p.Gly689Cys) | |
9 | g.92718661C>G | CA374034611 | BICD2 | c.1984G>C (p.Gly662Arg) c.2065G>C (p.Gly689Arg) | |
9 | g.92718661C>T | CA374034612 | BICD2 | c.1984G>A (p.Gly662Ser) c.2065G>A (p.Gly689Ser) | |
9 | g.92718662C>A | CA466342798 | BICD2 | c.1983G>T (p.Leu661=) c.2064G>T (p.Leu688=) | |
9 | g.92718662C= | CA1864360640 | BICD2 | c.1983G= (p.Leu661=) c.2064G= (p.Leu688=) | |
9 | g.92718662C>G | CA466342799 | BICD2 | c.1983G>C (p.Leu661=) c.2064G>C (p.Leu688=) | |
9 | g.92718662C>T | CA466342800 | BICD2 | c.1983G>A (p.Leu661=) c.2064G>A (p.Leu688=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718663A>C | CA374034617 | BICD2 | c.1982T>G (p.Leu661Arg) c.2063T>G (p.Leu688Arg) | |
9 | g.92718663A>G | CA374034618 | BICD2 | c.1982T>C (p.Leu661Pro) c.2063T>C (p.Leu688Pro) | |
9 | g.92718663A>T | CA374034621 | BICD2 | c.1982T>A (p.Leu661Gln) c.2063T>A (p.Leu688Gln) | |
9 | g.92718664G>A | CA466342801 | BICD2 | c.1981C>T (p.Leu661=) c.2062C>T (p.Leu688=) | gnomAD v4 |
9 | g.92718664G>C | CA374034623 | BICD2 | c.1981C>G (p.Leu661Val) c.2062C>G (p.Leu688Val) | |
9 | g.92718664G>T | CA374034625 | BICD2 | c.1981C>A (p.Leu661Met) c.2062C>A (p.Leu688Met) | |
9 | g.92718665C>A | CA374034626 | BICD2 | c.1980G>T (p.Glu660Asp) c.2061G>T (p.Glu687Asp) | gnomAD v4 |
9 | g.92718665C>G | CA374034627 | BICD2 | c.1980G>C (p.Glu660Asp) c.2061G>C (p.Glu687Asp) | |
9 | g.92718665C>T | CA466342803 | BICD2 | c.1980G>A (p.Glu660=) c.2061G>A (p.Glu687=) | gnomAD v4 |
9 | g.92718666T>A | CA374034630 | BICD2 | c.1979A>T (p.Glu660Val) c.2060A>T (p.Glu687Val) | |
9 | g.92718666T>C | CA374034631 | BICD2 | c.1979A>G (p.Glu660Gly) c.2060A>G (p.Glu687Gly) | |
9 | g.92718666T>G | CA374034629 | BICD2 | c.1979A>C (p.Glu660Ala) c.2060A>C (p.Glu687Ala) | dbSNP |
9 | g.92718666T= | CA1864360643 | BICD2 | c.1979A= (p.Glu660=) c.2060A= (p.Glu687=) | |
9 | g.92718667C>A | CA374034633 | BICD2 | c.1978G>T (p.Glu660Ter) c.2059G>T (p.Glu687Ter) | |
9 | g.92718667C= | CA1864360647 | BICD2 | c.1978G= (p.Glu660=) c.2059G= (p.Glu687=) | |
9 | g.92718667C>G | CA374034635 | BICD2 | c.1978G>C (p.Glu660Gln) c.2059G>C (p.Glu687Gln) | |
9 | g.92718667C>T | CA374034636 | BICD2 | c.1978G>A (p.Glu660Lys) c.2059G>A (p.Glu687Lys) | ClinVar dbSNP |
9 | g.92718668C>A | CA374034638 | BICD2 | c.1977G>T (p.Gln659His) c.2058G>T (p.Gln686His) | |
9 | g.92718668C= | CA1864360650 | BICD2 | c.1977G= (p.Gln659=) c.2058G= (p.Gln686=) | |
9 | g.92718668C>G | CA374034639 | BICD2 | c.1977G>C (p.Gln659His) c.2058G>C (p.Gln686His) | |
9 | g.92718668C>T | CA466342804 | BICD2 | c.1977G>A (p.Gln659=) c.2058G>A (p.Gln686=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92718669T>A | CA374034644 | BICD2 | c.1976A>T (p.Gln659Leu) c.2057A>T (p.Gln686Leu) | |
9 | g.92718669T>C | CA374034643 | BICD2 | c.1976A>G (p.Gln659Arg) c.2057A>G (p.Gln686Arg) | |
9 | g.92718669T>G | CA374034640 | BICD2 | c.1976A>C (p.Gln659Pro) c.2057A>C (p.Gln686Pro) | |
9 | g.92718670G>A | CA374034647 | BICD2 | c.1975C>T (p.Gln659Ter) c.2056C>T (p.Gln686Ter) | |
9 | g.92718670G>C | CA5126437 | BICD2 | c.1975C>G (p.Gln659Glu) c.2056C>G (p.Gln686Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718670G= | CA1864360652 | BICD2 | c.1975C= (p.Gln659=) c.2056C= (p.Gln686=) | |
9 | g.92718670G>T | CA374034651 | BICD2 | c.1975C>A (p.Gln659Lys) c.2056C>A (p.Gln686Lys) | |
9 | g.92718671A>C | CA466342807 | BICD2 | c.1974T>G (p.Ser658=) c.2055T>G (p.Ser685=) | dbSNP gnomAD v4 |
9 | g.92718671A>G | CA466342808 | BICD2 | c.1974T>C (p.Ser658=) c.2055T>C (p.Ser685=) | |
9 | g.92718671A>T | CA466342809 | BICD2 | c.1974T>A (p.Ser658=) c.2055T>A (p.Ser685=) | |
9 | g.92718672G>A | CA374034652 | BICD2 | c.1973C>T (p.Ser658Phe) c.2054C>T (p.Ser685Phe) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92718672G>C | CA374034653 | BICD2 | c.1973C>G (p.Ser658Cys) c.2054C>G (p.Ser685Cys) | |
9 | g.92718672G= | CA1864360656 | BICD2 | c.1973C= (p.Ser658=) c.2054C= (p.Ser685=) | |
9 | g.92718672G>T | CA374034654 | BICD2 | c.1973C>A (p.Ser658Tyr) c.2054C>A (p.Ser685Tyr) | |
9 | g.92718673A>C | CA374034657 | BICD2 | c.1972T>G (p.Ser658Ala) c.2053T>G (p.Ser685Ala) | |
9 | g.92718673A>G | CA374034656 | BICD2 | c.1972T>C (p.Ser658Pro) c.2053T>C (p.Ser685Pro) | |
9 | g.92718673A>T | CA374034655 | BICD2 | c.1972T>A (p.Ser658Thr) c.2053T>A (p.Ser685Thr) | |
9 | g.92718674G>A | CA466342811 | BICD2 | c.1971C>T (p.Ala657=) c.2052C>T (p.Ala684=) | gnomAD v4 |
9 | g.92718674G>C | CA466342812 | BICD2 | c.1971C>G (p.Ala657=) c.2052C>G (p.Ala684=) | |
9 | g.92718674G>T | CA466342813 | BICD2 | c.1971C>A (p.Ala657=) c.2052C>A (p.Ala684=) | |
9 | g.92718675G>A | CA374034659 | BICD2 | c.1970C>T (p.Ala657Val) c.2051C>T (p.Ala684Val) | gnomAD v4 |
9 | g.92718675G>C | CA374034663 | BICD2 | c.1970C>G (p.Ala657Gly) c.2051C>G (p.Ala684Gly) | |
9 | g.92718675G>T | CA374034661 | BICD2 | c.1970C>A (p.Ala657Asp) c.2051C>A (p.Ala684Asp) | |
9 | g.92718676C>A | CA374034664 | BICD2 | c.1969G>T (p.Ala657Ser) c.2050G>T (p.Ala684Ser) | |
9 | g.92718676C>G | CA374034667 | BICD2 | c.1969G>C (p.Ala657Pro) c.2050G>C (p.Ala684Pro) | gnomAD v4 |
9 | g.92718676C>T | CA374034666 | BICD2 | c.1969G>A (p.Ala657Thr) c.2050G>A (p.Ala684Thr) | gnomAD v4 |
9 | g.92718677A>C | CA374034669 | BICD2 | c.1968T>G (p.Ile656Met) c.2049T>G (p.Ile683Met) | |
9 | g.92718677A>G | CA466342818 | BICD2 | c.1968T>C (p.Ile656=) c.2049T>C (p.Ile683=) | |
9 | g.92718677A>T | CA466342817 | BICD2 | c.1968T>A (p.Ile656=) c.2049T>A (p.Ile683=) | |
9 | g.92718678A>C | CA374034671 | BICD2 | c.1967T>G (p.Ile656Ser) c.2048T>G (p.Ile683Ser) | |
9 | g.92718678A>G | CA374034672 | BICD2 | c.1967T>C (p.Ile656Thr) c.2048T>C (p.Ile683Thr) | gnomAD v4 |
9 | g.92718678A>T | CA374034675 | BICD2 | c.1967T>A (p.Ile656Asn) c.2048T>A (p.Ile683Asn) | |
9 | g.92718679T>A | CA374034676 | BICD2 | c.1966A>T (p.Ile656Phe) c.2047A>T (p.Ile683Phe) | |
9 | g.92718679T>C | CA374034677 | BICD2 | c.1966A>G (p.Ile656Val) c.2047A>G (p.Ile683Val) | gnomAD v4 |
9 | g.92718679T>G | CA374034678 | BICD2 | c.1966A>C (p.Ile656Leu) c.2047A>C (p.Ile683Leu) | |
9 | g.92718680G>A | CA466342820 | BICD2 | c.1965C>T (p.Arg655=) c.2046C>T (p.Arg682=) | |
9 | g.92718680G>C | CA466342821 | BICD2 | c.1965C>G (p.Arg655=) c.2046C>G (p.Arg682=) | |
9 | g.92718680G>T | CA466342822 | BICD2 | c.1965C>A (p.Arg655=) c.2046C>A (p.Arg682=) | |
9 | g.92718681C>A | CA374034679 | BICD2 | c.1964G>T (p.Arg655Leu) c.2045G>T (p.Arg682Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718681C= | CA1864360662 | BICD2 | c.1964G= (p.Arg655=) c.2045G= (p.Arg682=) | |
9 | g.92718681C>G | CA374034680 | BICD2 | c.1964G>C (p.Arg655Pro) c.2045G>C (p.Arg682Pro) | |
9 | g.92718681C>T | CA5126438 | BICD2 | c.1964G>A (p.Arg655His) c.2045G>A (p.Arg682His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.92718682G>A | CA5126439 | BICD2 | c.1963C>T (p.Arg655Cys) c.2044C>T (p.Arg682Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718682G>C | CA374034682 | BICD2 | c.1963C>G (p.Arg655Gly) c.2044C>G (p.Arg682Gly) | |
9 | g.92718682G= | CA1864360672 | BICD2 | c.1963C= (p.Arg655=) c.2044C= (p.Arg682=) | |
9 | g.92718682G>T | CA374034681 | BICD2 | c.1963C>A (p.Arg655Ser) c.2044C>A (p.Arg682Ser) | |
9 | g.92718683C>A | CA374034683 | BICD2 | c.1962G>T (p.Gln654His) c.2043G>T (p.Gln681His) | COSMIC COSMIC |
9 | g.92718683C= | CA1864360678 | BICD2 | c.1962G= (p.Gln654=) c.2043G= (p.Gln681=) | |
9 | g.92718683C>G | CA374034685 | BICD2 | c.1962G>C (p.Gln654His) c.2043G>C (p.Gln681His) | |
9 | g.92718683C>T | CA5126440 | BICD2 | c.1962G>A (p.Gln654=) c.2043G>A (p.Gln681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92718684T>A | CA374034687 | BICD2 | c.1961A>T (p.Gln654Leu) c.2042A>T (p.Gln681Leu) | |
9 | g.92718684T>C | CA374034689 | BICD2 | c.1961A>G (p.Gln654Arg) c.2042A>G (p.Gln681Arg) | |
9 | g.92718684T>G | CA374034690 | BICD2 | c.1961A>C (p.Gln654Pro) c.2042A>C (p.Gln681Pro) | |
9 | g.92718685G>A | CA374034691 | BICD2 | c.1960C>T (p.Gln654Ter) c.2041C>T (p.Gln681Ter) | |
9 | g.92718685G>C | CA374034692 | BICD2 | c.1960C>G (p.Gln654Glu) c.2041C>G (p.Gln681Glu) | |
9 | g.92718685G>T | CA374034693 | BICD2 | c.1960C>A (p.Gln654Lys) c.2041C>A (p.Gln681Lys) | |
9 | g.92718686G>A | CA466342827 | BICD2 | c.1959C>T (p.Arg653=) c.2040C>T (p.Arg680=) | dbSNP |
9 | g.92718686G>C | CA466342829 | BICD2 | c.1959C>G (p.Arg653=) c.2040C>G (p.Arg680=) | ClinVar dbSNP gnomAD v4 |
9 | g.92718686G= | CA1864360687 | BICD2 | c.1959C= (p.Arg653=) c.2040C= (p.Arg680=) | |
9 | g.92718686G>T | CA466342826 | BICD2 | c.1959C>A (p.Arg653=) c.2040C>A (p.Arg680=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718687C>A | CA374034695 | BICD2 | c.1958G>T (p.Arg653Leu) c.2039G>T (p.Arg680Leu) | |
9 | g.92718687C= | CA1864360693 | BICD2 | c.1958G= (p.Arg653=) c.2039G= (p.Arg680=) | |
9 | g.92718687C>G | CA374034699 | BICD2 | c.1958G>C (p.Arg653Pro) c.2039G>C (p.Arg680Pro) | |
9 | g.92718687C>T | CA5126441 | BICD2 | c.1958G>A (p.Arg653His) c.2039G>A (p.Arg680His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718688G>A | CA5126442 | BICD2 | c.1957C>T (p.Arg653Cys) c.2038C>T (p.Arg680Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718688G>C | CA374034705 | BICD2 | c.1957C>G (p.Arg653Gly) c.2038C>G (p.Arg680Gly) | gnomAD v4 |
9 | g.92718688G= | CA1864360695 | BICD2 | c.1957C= (p.Arg653=) c.2038C= (p.Arg680=) | |
9 | g.92718688G>T | CA374034702 | BICD2 | c.1957C>A (p.Arg653Ser) c.2038C>A (p.Arg680Ser) | |
9 | g.92718689T>A | CA466342832 | BICD2 | c.1956A>T (p.Ser652=) c.2037A>T (p.Ser679=) | |
9 | g.92718689T>C | CA466342833 | BICD2 | c.1956A>G (p.Ser652=) c.2037A>G (p.Ser679=) | dbSNP gnomAD v4 |
9 | g.92718689T>G | CA466342834 | BICD2 | c.1956A>C (p.Ser652=) c.2037A>C (p.Ser679=) | dbSNP |
9 | g.92718689T= | CA1864360698 | BICD2 | c.1956A= (p.Ser652=) c.2037A= (p.Ser679=) | |
9 | g.92718690G>A | CA374034709 | BICD2 | c.1955C>T (p.Ser652Leu) c.2036C>T (p.Ser679Leu) | |
9 | g.92718690G>C | CA374034720 | BICD2 | c.1955C>G (p.Ser652Ter) c.2036C>G (p.Ser679Ter) | |
9 | g.92718690G>T | CA374034721 | BICD2 | c.1955C>A (p.Ser652Ter) c.2036C>A (p.Ser679Ter) | |
9 | g.92718691A>C | CA374034722 | BICD2 | c.1954T>G (p.Ser652Ala) c.2035T>G (p.Ser679Ala) | |
9 | g.92718691A>G | CA374034723 | BICD2 | c.1954T>C (p.Ser652Pro) c.2035T>C (p.Ser679Pro) | |
9 | g.92718691A>T | CA374034725 | BICD2 | c.1954T>A (p.Ser652Thr) c.2035T>A (p.Ser679Thr) | |
9 | g.92718692C>A | CA5126444 | BICD2 | c.1953G>T (p.Leu651=) c.2034G>T (p.Leu678=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718692C= | CA1864360701 | BICD2 | c.1953G= (p.Leu651=) c.2034G= (p.Leu678=) | |
9 | g.92718692C>G | CA5126443 | BICD2 | c.1953G>C (p.Leu651=) c.2034G>C (p.Leu678=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718692C>T | CA466342839 | BICD2 | c.1953G>A (p.Leu651=) c.2034G>A (p.Leu678=) | |
9 | g.92718693A>C | CA374034727 | BICD2 | c.1952T>G (p.Leu651Arg) c.2033T>G (p.Leu678Arg) | |
9 | g.92718693A>G | CA374034728 | BICD2 | c.1952T>C (p.Leu651Pro) c.2033T>C (p.Leu678Pro) | |
9 | g.92718693A>T | CA374034729 | BICD2 | c.1952T>A (p.Leu651Gln) c.2033T>A (p.Leu678Gln) | gnomAD v4 |
9 | g.92718694G>A | CA466342843 | BICD2 | c.1951C>T (p.Leu651=) c.2032C>T (p.Leu678=) | |
9 | g.92718694G>C | CA374034732 | BICD2 | c.1951C>G (p.Leu651Val) c.2032C>G (p.Leu678Val) | |
9 | g.92718694G>T | CA374034738 | BICD2 | c.1951C>A (p.Leu651Met) c.2032C>A (p.Leu678Met) | |
9 | g.92718695C>A | CA374034753 | BICD2 | c.1950G>T (p.Glu650Asp) c.2031G>T (p.Glu677Asp) | |
9 | g.92718695C= | CA1864360705 | BICD2 | c.1950G= (p.Glu650=) c.2031G= (p.Glu677=) | |
9 | g.92718695C>G | CA374034741 | BICD2 | c.1950G>C (p.Glu650Asp) c.2031G>C (p.Glu677Asp) | |
9 | g.92718695C>T | CA466342844 | BICD2 | c.1950G>A (p.Glu650=) c.2031G>A (p.Glu677=) | dbSNP |
9 | g.92718696T>A | CA374034756 | BICD2 | c.1949A>T (p.Glu650Val) c.2030A>T (p.Glu677Val) | |
9 | g.92718696T>C | CA5126445 | BICD2 | c.1949A>G (p.Glu650Gly) c.2030A>G (p.Glu677Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718696T>G | CA374034758 | BICD2 | c.1949A>C (p.Glu650Ala) c.2030A>C (p.Glu677Ala) | |
9 | g.92718696T= | CA1864360709 | BICD2 | c.1949A= (p.Glu650=) c.2030A= (p.Glu677=) | |
9 | g.92718697C>A | CA374034759 | BICD2 | c.1948G>T (p.Glu650Ter) c.2029G>T (p.Glu677Ter) | |
9 | g.92718697C= | CA1864360711 | BICD2 | c.1948G= (p.Glu650=) c.2029G= (p.Glu677=) | |
9 | g.92718697C>G | CA374034761 | BICD2 | c.1948G>C (p.Glu650Gln) c.2029G>C (p.Glu677Gln) | |
9 | g.92718697C>T | CA374034762 | BICD2 | c.1948G>A (p.Glu650Lys) c.2029G>A (p.Glu677Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718698C>A | CA466342846 | BICD2 | c.1947G>T (p.Thr649=) c.2028G>T (p.Thr676=) | |
9 | g.92718698C= | CA1864360715 | BICD2 | c.1947G= (p.Thr649=) c.2028G= (p.Thr676=) | |
9 | g.92718698C>G | CA466342847 | BICD2 | c.1947G>C (p.Thr649=) c.2028G>C (p.Thr676=) | dbSNP |
9 | g.92718698C>T | CA5126446 | BICD2 | c.1947G>A (p.Thr649=) c.2028G>A (p.Thr676=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718699G>A | CA5126447 | BICD2 | c.1946C>T (p.Thr649Met) c.2027C>T (p.Thr676Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718699G>C | CA374034770 | BICD2 | c.1946C>G (p.Thr649Arg) c.2027C>G (p.Thr676Arg) | |
9 | g.92718699G= | CA1864360718 | BICD2 | c.1946C= (p.Thr649=) c.2027C= (p.Thr676=) | |
9 | g.92718699G>T | CA374034772 | BICD2 | c.1946C>A (p.Thr649Lys) c.2027C>A (p.Thr676Lys) | |
9 | g.92718700T>A | CA374034776 | BICD2 | c.1945A>T (p.Thr649Ser) c.2026A>T (p.Thr676Ser) | |
9 | g.92718700T>C | CA374034779 | BICD2 | c.1945A>G (p.Thr649Ala) c.2026A>G (p.Thr676Ala) | |
9 | g.92718700T>G | CA374034781 | BICD2 | c.1945A>C (p.Thr649Pro) c.2026A>C (p.Thr676Pro) | |
9 | g.92718701G>A | CA466342849 | BICD2 | c.1944C>T (p.Thr648=) c.2025C>T (p.Thr675=) | gnomAD v4 |
9 | g.92718701G>C | CA466342850 | BICD2 | c.1944C>G (p.Thr648=) c.2025C>G (p.Thr675=) | |
9 | g.92718701G>T | CA466342851 | BICD2 | c.1944C>A (p.Thr648=) c.2025C>A (p.Thr675=) | dbSNP |
9 | g.92718702G>A | CA374034790 | BICD2 | c.1943C>T (p.Thr648Ile) c.2024C>T (p.Thr675Ile) | dbSNP |
9 | g.92718702G>C | CA374034788 | BICD2 | c.1943C>G (p.Thr648Ser) c.2024C>G (p.Thr675Ser) | |
9 | g.92718702G= | CA1864360723 | BICD2 | c.1943C= (p.Thr648=) c.2024C= (p.Thr675=) | |
9 | g.92718702G>T | CA374034785 | BICD2 | c.1943C>A (p.Thr648Asn) c.2024C>A (p.Thr675Asn) | |
9 | g.92718703T>A | CA374034792 | BICD2 | c.1942A>T (p.Thr648Ser) c.2023A>T (p.Thr675Ser) | |
9 | g.92718703T>C | CA374034794 | BICD2 | c.1942A>G (p.Thr648Ala) c.2023A>G (p.Thr675Ala) | |
9 | g.92718703T>G | CA374034796 | BICD2 | c.1942A>C (p.Thr648Pro) c.2023A>C (p.Thr675Pro) | |
9 | g.92718704G>A | CA466342854 | BICD2 | c.1941C>T (p.Arg647=) c.2022C>T (p.Arg674=) | |
9 | g.92718704G>C | CA466342855 | BICD2 | c.1941C>G (p.Arg647=) c.2022C>G (p.Arg674=) | |
9 | g.92718704G>T | CA466342856 | BICD2 | c.1941C>A (p.Arg647=) c.2022C>A (p.Arg674=) | |
9 | g.92718705C>A | CA374034801 | BICD2 | c.1940G>T (p.Arg647Leu) c.2021G>T (p.Arg674Leu) | |
9 | g.92718705C= | CA1864360727 | BICD2 | c.1940G= (p.Arg647=) c.2021G= (p.Arg674=) | |
9 | g.92718705C>G | CA374034803 | BICD2 | c.1940G>C (p.Arg647Pro) c.2021G>C (p.Arg674Pro) | |
9 | g.92718705C>T | CA5126448 | BICD2 | c.1940G>A (p.Arg647His) c.2021G>A (p.Arg674His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92718706G>A | CA374034812 | BICD2 | c.1939C>T (p.Arg647Cys) c.2020C>T (p.Arg674Cys) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718706G>C | CA374034808 | BICD2 | c.1939C>G (p.Arg647Gly) c.2020C>G (p.Arg674Gly) | |
9 | g.92718706G= | CA1864360729 | BICD2 | c.1939C= (p.Arg647=) c.2020C= (p.Arg674=) | |
9 | g.92718706G>T | CA374034810 | BICD2 | c.1939C>A (p.Arg647Ser) c.2020C>A (p.Arg674Ser) | |
9 | g.92718707G>A | CA466342859 | BICD2 | c.1938C>T (p.Asp646=) c.2019C>T (p.Asp673=) | |
9 | g.92718707G>C | CA374034814 | BICD2 | c.1938C>G (p.Asp646Glu) c.2019C>G (p.Asp673Glu) | |
9 | g.92718707G>T | CA374034815 | BICD2 | c.1938C>A (p.Asp646Glu) c.2019C>A (p.Asp673Glu) | |
9 | g.92718708T>A | CA374034816 | BICD2 | c.1937A>T (p.Asp646Val) c.2018A>T (p.Asp673Val) | |
9 | g.92718708T>C | CA374034817 | BICD2 | c.1937A>G (p.Asp646Gly) c.2018A>G (p.Asp673Gly) | |
9 | g.92718708T>G | CA374034818 | BICD2 | c.1937A>C (p.Asp646Ala) c.2018A>C (p.Asp673Ala) | |
9 | g.92718709C>A | CA374034823 | BICD2 | c.1936G>T (p.Asp646Tyr) c.2017G>T (p.Asp673Tyr) | |
9 | g.92718709C>G | CA374034821 | BICD2 | c.1936G>C (p.Asp646His) c.2017G>C (p.Asp673His) | |
9 | g.92718709C>T | CA374034822 | BICD2 | c.1936G>A (p.Asp646Asn) c.2017G>A (p.Asp673Asn) | |
9 | g.92718710C>A | CA466342862 | BICD2 | c.1935G>T (p.Val645=) c.2016G>T (p.Val672=) | |
9 | g.92718710C>G | CA466342863 | BICD2 | c.1935G>C (p.Val645=) c.2016G>C (p.Val672=) | |
9 | g.92718710C>T | CA466342864 | BICD2 | c.1935G>A (p.Val645=) c.2016G>A (p.Val672=) | |
9 | g.92718711A>C | CA374034827 | BICD2 | c.1934T>G (p.Val645Gly) c.2015T>G (p.Val672Gly) | |
9 | g.92718711A>G | CA374034829 | BICD2 | c.1934T>C (p.Val645Ala) c.2015T>C (p.Val672Ala) | |
9 | g.92718711A>T | CA374034832 | BICD2 | c.1934T>A (p.Val645Glu) c.2015T>A (p.Val672Glu) | ClinVar dbSNP |
9 | g.92718712C>A | CA374034833 | BICD2 | c.1933G>T (p.Val645Leu) c.2014G>T (p.Val672Leu) | |
9 | g.92718712C= | CA1864360733 | BICD2 | c.1933G= (p.Val645=) c.2014G= (p.Val672=) | |
9 | g.92718712C>G | CA374034837 | BICD2 | c.1933G>C (p.Val645Leu) c.2014G>C (p.Val672Leu) | |
9 | g.92718712C>T | CA5126449 | BICD2 | c.1933G>A (p.Val645Met) c.2014G>A (p.Val672Met) | dbSNP ExAC |
9 | g.92718713G>A | CA5126450 | BICD2 | c.1932C>T (p.Ala644=) c.2013C>T (p.Ala671=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718713G>C | CA466342867 | BICD2 | c.1932C>G (p.Ala644=) c.2013C>G (p.Ala671=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.92718713G= | CA1864360737 | BICD2 | c.1932C= (p.Ala644=) c.2013C= (p.Ala671=) | |
9 | g.92718713G>T | CA466342869 | BICD2 | c.1932C>A (p.Ala644=) c.2013C>A (p.Ala671=) | gnomAD v4 |
9 | g.92718714G>A | CA374034839 | BICD2 | c.1931C>T (p.Ala644Val) c.2012C>T (p.Ala671Val) | |
9 | g.92718714G>C | CA374034840 | BICD2 | c.1931C>G (p.Ala644Gly) c.2012C>G (p.Ala671Gly) | |
9 | g.92718714G= | CA1864360743 | BICD2 | c.1931C= (p.Ala644=) c.2012C= (p.Ala671=) | |
9 | g.92718714G>T | CA374034841 | BICD2 | c.1931C>A (p.Ala644Asp) c.2012C>A (p.Ala671Asp) | ClinVar dbSNP |
9 | g.92718715C>A | CA374034844 | BICD2 | c.1930G>T (p.Ala644Ser) c.2011G>T (p.Ala671Ser) | |
9 | g.92718715C>G | CA374034845 | BICD2 | c.1930G>C (p.Ala644Pro) c.2011G>C (p.Ala671Pro) | |
9 | g.92718715C>T | CA374034848 | BICD2 | c.1930G>A (p.Ala644Thr) c.2011G>A (p.Ala671Thr) | |
9 | g.92718716T>A | CA466342870 | BICD2 | c.1929A>T (p.Ala643=) c.2010A>T (p.Ala670=) | |
9 | g.92718716T>C | CA466342871 | BICD2 | c.1929A>G (p.Ala643=) c.2010A>G (p.Ala670=) | |
9 | g.92718716T>G | CA466342872 | BICD2 | c.1929A>C (p.Ala643=) c.2010A>C (p.Ala670=) | |
9 | g.92718717G>A | CA5126452 | BICD2 | c.1928C>T (p.Ala643Val) c.2009C>T (p.Ala670Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718717G>C | CA5126451 | BICD2 | c.1928C>G (p.Ala643Gly) c.2009C>G (p.Ala670Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718717G= | CA1864360746 | BICD2 | c.1928C= (p.Ala643=) c.2009C= (p.Ala670=) | |
9 | g.92718717G>T | CA374034854 | BICD2 | c.1928C>A (p.Ala643Glu) c.2009C>A (p.Ala670Glu) | gnomAD v4 COSMIC COSMIC |
9 | g.92718718C>A | CA374034858 | BICD2 | c.1927G>T (p.Ala643Ser) c.2008G>T (p.Ala670Ser) | |
9 | g.92718718C= | CA1864360754 | BICD2 | c.1927G= (p.Ala643=) c.2008G= (p.Ala670=) | |
9 | g.92718718C>G | CA374034861 | BICD2 | c.1927G>C (p.Ala643Pro) c.2008G>C (p.Ala670Pro) | |
9 | g.92718718C>T | CA374034872 | BICD2 | c.1927G>A (p.Ala643Thr) c.2008G>A (p.Ala670Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718719C>A | CA374034874 | BICD2 | c.1926G>T (p.Gln642His) c.2007G>T (p.Gln669His) | |
9 | g.92718719C>G | CA374034877 | BICD2 | c.1926G>C (p.Gln642His) c.2007G>C (p.Gln669His) | |
9 | g.92718719C>T | CA466342874 | BICD2 | c.1926G>A (p.Gln642=) c.2007G>A (p.Gln669=) | |
9 | g.92718720T>A | CA374034884 | BICD2 | c.1925A>T (p.Gln642Leu) c.2006A>T (p.Gln669Leu) | |
9 | g.92718720T>C | CA374034883 | BICD2 | c.1925A>G (p.Gln642Arg) c.2006A>G (p.Gln669Arg) | |
9 | g.92718720T>G | CA374034881 | BICD2 | c.1925A>C (p.Gln642Pro) c.2006A>C (p.Gln669Pro) | |
9 | g.92718721G>A | CA374034885 | BICD2 | c.1924C>T (p.Gln642Ter) c.2005C>T (p.Gln669Ter) | |
9 | g.92718721G>C | CA374034886 | BICD2 | c.1924C>G (p.Gln642Glu) c.2005C>G (p.Gln669Glu) | |
9 | g.92718721G>T | CA374034888 | BICD2 | c.1924C>A (p.Gln642Lys) c.2005C>A (p.Gln669Lys) | |
9 | g.92718722C>A | CA466342875 | BICD2 | c.1923G>T (p.Leu641=) c.2004G>T (p.Leu668=) | |
9 | g.92718722C>G | CA466342876 | BICD2 | c.1923G>C (p.Leu641=) c.2004G>C (p.Leu668=) | |
9 | g.92718722C>T | CA466342877 | BICD2 | c.1923G>A (p.Leu641=) c.2004G>A (p.Leu668=) | gnomAD v4 |
9 | g.92718723A= | CA1864360759 | BICD2 | c.1922T= (p.Leu641=) c.2003T= (p.Leu668=) | |
9 | g.92718723A>C | CA374034890 | BICD2 | c.1922T>G (p.Leu641Arg) c.2003T>G (p.Leu668Arg) | ClinVar |
9 | g.92718723A>G | CA374034892 | BICD2 | c.1922T>C (p.Leu641Pro) c.2003T>C (p.Leu668Pro) | ClinVar dbSNP |
9 | g.92718723A>T | CA374034894 | BICD2 | c.1922T>A (p.Leu641Gln) c.2003T>A (p.Leu668Gln) | ClinVar |
9 | g.92718724G>A | CA5126453 | BICD2 | c.1921C>T (p.Leu641=) c.2002C>T (p.Leu668=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718724G>C | CA374034902 | BICD2 | c.1921C>G (p.Leu641Val) c.2002C>G (p.Leu668Val) | |
9 | g.92718724G= | CA1864360765 | BICD2 | c.1921C= (p.Leu641=) c.2002C= (p.Leu668=) | |
9 | g.92718724G>T | CA374034900 | BICD2 | c.1921C>A (p.Leu641Met) c.2002C>A (p.Leu668Met) | |
9 | g.92718725G>A | CA466342878 | BICD2 | c.1920C>T (p.His640=) c.2001C>T (p.His667=) | |
9 | g.92718725G>C | CA374034904 | BICD2 | c.1920C>G (p.His640Gln) c.2001C>G (p.His667Gln) | |
9 | g.92718725G>T | CA374034907 | BICD2 | c.1920C>A (p.His640Gln) c.2001C>A (p.His667Gln) | |
9 | g.92718726T>A | CA374034910 | BICD2 | c.1919A>T (p.His640Leu) c.2000A>T (p.His667Leu) | |
9 | g.92718726T>C | CA374034912 | BICD2 | c.1919A>G (p.His640Arg) c.2000A>G (p.His667Arg) | |
9 | g.92718726T>G | CA374034914 | BICD2 | c.1919A>C (p.His640Pro) c.2000A>C (p.His667Pro) | |
9 | g.92718727G>A | CA374034918 | BICD2 | c.1918C>T (p.His640Tyr) c.1999C>T (p.His667Tyr) | dbSNP |
9 | g.92718727G>C | CA374034919 | BICD2 | c.1918C>G (p.His640Asp) c.1999C>G (p.His667Asp) | |
9 | g.92718727G>T | CA374034920 | BICD2 | c.1918C>A (p.His640Asn) c.1999C>A (p.His667Asn) | |
9 | g.92718728C>A | CA374034921 | BICD2 | c.1917G>T (p.Lys639Asn) c.1998G>T (p.Lys666Asn) | |
9 | g.92718728C>G | CA374034922 | BICD2 | c.1917G>C (p.Lys639Asn) c.1998G>C (p.Lys666Asn) | |
9 | g.92718728C>T | CA466342879 | BICD2 | c.1917G>A (p.Lys639=) c.1998G>A (p.Lys666=) | |
9 | g.92718729T>A | CA374034926 | BICD2 | c.1916A>T (p.Lys639Met) c.1997A>T (p.Lys666Met) | |
9 | g.92718729T>C | CA5126454 | BICD2 | c.1916A>G (p.Lys639Arg) c.1997A>G (p.Lys666Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718729T>G | CA374034924 | BICD2 | c.1916A>C (p.Lys639Thr) c.1997A>C (p.Lys666Thr) | |
9 | g.92718729T= | CA1864360768 | BICD2 | c.1916A= (p.Lys639=) c.1997A= (p.Lys666=) | |
9 | g.92718730T>A | CA374034928 | BICD2 | c.1915A>T (p.Lys639Ter) c.1996A>T (p.Lys666Ter) | |
9 | g.92718730T>C | CA374034930 | BICD2 | c.1915A>G (p.Lys639Glu) c.1996A>G (p.Lys666Glu) | |
9 | g.92718730T>G | CA374034929 | BICD2 | c.1915A>C (p.Lys639Gln) c.1996A>C (p.Lys666Gln) | |
9 | g.92718731G>A | CA466342880 | BICD2 | c.1914C>T (p.Ile638=) c.1995C>T (p.Ile665=) | gnomAD v4 |
9 | g.92718731G>C | CA374034931 | BICD2 | c.1914C>G (p.Ile638Met) c.1995C>G (p.Ile665Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718731G= | CA1864360773 | BICD2 | c.1914C= (p.Ile638=) c.1995C= (p.Ile665=) | |
9 | g.92718731G>T | CA466342881 | BICD2 | c.1914C>A (p.Ile638=) c.1995C>A (p.Ile665=) | |
9 | g.92718732A>C | CA374034934 | BICD2 | c.1913T>G (p.Ile638Ser) c.1994T>G (p.Ile665Ser) | |
9 | g.92718732A>G | CA374034933 | BICD2 | c.1913T>C (p.Ile638Thr) c.1994T>C (p.Ile665Thr) | |
9 | g.92718732A>T | CA374034936 | BICD2 | c.1913T>A (p.Ile638Asn) c.1994T>A (p.Ile665Asn) | |
9 | g.92718733T>A | CA374034939 | BICD2 | c.1912A>T (p.Ile638Phe) c.1993A>T (p.Ile665Phe) | |
9 | g.92718733T>C | CA5126455 | BICD2 | c.1912A>G (p.Ile638Val) c.1993A>G (p.Ile665Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718733T>G | CA374034942 | BICD2 | c.1912A>C (p.Ile638Leu) c.1993A>C (p.Ile665Leu) | |
9 | g.92718733T= | CA1864360776 | BICD2 | c.1912A= (p.Ile638=) c.1993A= (p.Ile665=) | |
9 | g.92718734C>A | CA374034945 | BICD2 | c.1911G>T (p.Gln637His) c.1992G>T (p.Gln664His) | |
9 | g.92718734C>G | CA374034947 | BICD2 | c.1911G>C (p.Gln637His) c.1992G>C (p.Gln664His) | |
9 | g.92718734C>T | CA466342882 | BICD2 | c.1911G>A (p.Gln637=) c.1992G>A (p.Gln664=) | |
9 | g.92718735T>A | CA374034950 | BICD2 | c.1910A>T (p.Gln637Leu) c.1991A>T (p.Gln664Leu) | |
9 | g.92718735T>C | CA374034956 | BICD2 | c.1910A>G (p.Gln637Arg) c.1991A>G (p.Gln664Arg) | |
9 | g.92718735T>G | CA374034953 | BICD2 | c.1910A>C (p.Gln637Pro) c.1991A>C (p.Gln664Pro) | |
9 | g.92718736G>A | CA374034959 | BICD2 | c.1909C>T (p.Gln637Ter) c.1990C>T (p.Gln664Ter) | |
9 | g.92718736G>C | CA374034961 | BICD2 | c.1909C>G (p.Gln637Glu) c.1990C>G (p.Gln664Glu) | |
9 | g.92718736G>T | CA374034963 | BICD2 | c.1909C>A (p.Gln637Lys) c.1990C>A (p.Gln664Lys) | |
9 | g.92718737G>A | CA466342883 | BICD2 | c.1908C>T (p.Asp636=) c.1989C>T (p.Asp663=) | gnomAD v4 |
9 | g.92718737G>C | CA374034967 | BICD2 | c.1908C>G (p.Asp636Glu) c.1989C>G (p.Asp663Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718737G= | CA1864360781 | BICD2 | c.1908C= (p.Asp636=) c.1989C= (p.Asp663=) | |
9 | g.92718737G>T | CA374034969 | BICD2 | c.1908C>A (p.Asp636Glu) c.1989C>A (p.Asp663Glu) | |
9 | g.92718738T>A | CA374034972 | BICD2 | c.1907A>T (p.Asp636Val) c.1988A>T (p.Asp663Val) | |
9 | g.92718738T>C | CA374034973 | BICD2 | c.1907A>G (p.Asp636Gly) c.1988A>G (p.Asp663Gly) | COSMIC COSMIC |
9 | g.92718738T>G | CA374034976 | BICD2 | c.1907A>C (p.Asp636Ala) c.1988A>C (p.Asp663Ala) | |
9 | g.92718739C>A | CA374034980 | BICD2 | c.1906G>T (p.Asp636Tyr) c.1987G>T (p.Asp663Tyr) | |
9 | g.92718739C>G | CA374034983 | BICD2 | c.1906G>C (p.Asp636His) c.1987G>C (p.Asp663His) | |
9 | g.92718739C>T | CA374034985 | BICD2 | c.1906G>A (p.Asp636Asn) c.1987G>A (p.Asp663Asn) | |
9 | g.92718740A= | CA1864360785 | BICD2 | c.1905T= (p.Arg635=) c.1986T= (p.Arg662=) | |
9 | g.92718740A>C | CA466342884 | BICD2 | c.1905T>G (p.Arg635=) c.1986T>G (p.Arg662=) | |
9 | g.92718740A>G | CA466342885 | BICD2 | c.1905T>C (p.Arg635=) c.1986T>C (p.Arg662=) | |
9 | g.92718740A>T | CA466342886 | BICD2 | c.1905T>A (p.Arg635=) c.1986T>A (p.Arg662=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.92718741C>A | CA374034993 | BICD2 | c.1904G>T (p.Arg635Leu) c.1985G>T (p.Arg662Leu) | |
9 | g.92718741C= | CA1864360788 | BICD2 | c.1904G= (p.Arg635=) c.1985G= (p.Arg662=) | |
9 | g.92718741C>G | CA374034990 | BICD2 | c.1904G>C (p.Arg635Pro) c.1985G>C (p.Arg662Pro) | |
9 | g.92718741C>T | CA5126456 | BICD2 | c.1904G>A (p.Arg635His) c.1985G>A (p.Arg662His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.92718742G>A | CA5126457 | BICD2 | c.1903C>T (p.Arg635Cys) c.1984C>T (p.Arg662Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.92718742G>C | CA374034998 | BICD2 | c.1903C>G (p.Arg635Gly) c.1984C>G (p.Arg662Gly) | ClinVar dbSNP |
9 | g.92718742G= | CA1864360793 | BICD2 | c.1903C= (p.Arg635=) c.1984C= (p.Arg662=) | |
9 | g.92718742G>T | CA374035000 | BICD2 | c.1903C>A (p.Arg635Ser) c.1984C>A (p.Arg662Ser) |