| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92718656_92718715del | CA2695201604 | BICD2 | c.1939_1998del (p.Arg647_Asp666del) c.2020_2079del (p.Arg674_Asp693del) | ClinVar |
| 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) | |
| 9 | g.92718743G>A | CA466342887 | BICD2 | c.1902C>T (p.Ile634=) c.1983C>T (p.Ile661=) | |
| 9 | g.92718743G>C | CA374035004 | BICD2 | c.1902C>G (p.Ile634Met) c.1983C>G (p.Ile661Met) | |
| 9 | g.92718743G>T | CA466342888 | BICD2 | c.1902C>A (p.Ile634=) c.1983C>A (p.Ile661=) | |
| 9 | g.92718746_92718748del | CA2690686265 | BICD2 | c.1900_1902del (p.Ile634del) c.1981_1983del (p.Ile661del) | gnomAD v4 |
| 9 | g.92718744A>C | CA374035007 | BICD2 | c.1901T>G (p.Ile634Ser) c.1982T>G (p.Ile661Ser) | |
| 9 | g.92718744A>G | CA374035010 | BICD2 | c.1901T>C (p.Ile634Thr) c.1982T>C (p.Ile661Thr) | |
| 9 | g.92718744A>T | CA374035011 | BICD2 | c.1901T>A (p.Ile634Asn) c.1982T>A (p.Ile661Asn) | |
| 9 | g.92718745T>A | CA374035015 | BICD2 | c.1900A>T (p.Ile634Phe) c.1981A>T (p.Ile661Phe) | |
| 9 | g.92718745T>C | CA5126458 | BICD2 | c.1900A>G (p.Ile634Val) c.1981A>G (p.Ile661Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718745T>G | CA374035020 | BICD2 | c.1900A>C (p.Ile634Leu) c.1981A>C (p.Ile661Leu) | |
| 9 | g.92718745T= | CA1864360797 | BICD2 | c.1900A= (p.Ile634=) c.1981A= (p.Ile661=) | |
| 9 | g.92718746G>A | CA466342889 | BICD2 | c.1899C>T (p.Ile633=) c.1980C>T (p.Ile660=) | |
| 9 | g.92718746G>C | CA374035022 | BICD2 | c.1899C>G (p.Ile633Met) c.1980C>G (p.Ile660Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718746G= | CA1864360800 | BICD2 | c.1899C= (p.Ile633=) c.1980C= (p.Ile660=) | |
| 9 | g.92718746G>T | CA466342890 | BICD2 | c.1899C>A (p.Ile633=) c.1980C>A (p.Ile660=) | |
| 9 | g.92718747A>C | CA374035030 | BICD2 | c.1898T>G (p.Ile633Ser) c.1979T>G (p.Ile660Ser) | |
| 9 | g.92718747A>G | CA374035026 | BICD2 | c.1898T>C (p.Ile633Thr) c.1979T>C (p.Ile660Thr) | gnomAD v4 |
| 9 | g.92718747A>T | CA374035024 | BICD2 | c.1898T>A (p.Ile633Asn) c.1979T>A (p.Ile660Asn) | |
| 9 | g.92718748T>A | CA374035034 | BICD2 | c.1897A>T (p.Ile633Phe) c.1978A>T (p.Ile660Phe) | |
| 9 | g.92718748T>C | CA374035036 | BICD2 | c.1897A>G (p.Ile633Val) c.1978A>G (p.Ile660Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718748T>G | CA374035039 | BICD2 | c.1897A>C (p.Ile633Leu) c.1978A>C (p.Ile660Leu) | |
| 9 | g.92718748T= | CA1864360807 | BICD2 | c.1897A= (p.Ile633=) c.1978A= (p.Ile660=) | |
| 9 | g.92718748_92718749delinsTA | CA1864360803 | BICD2 | c.1896_1897delinsTA (p.Ala632=) c.1977_1978delinsTA (p.Ala659=) | |
| 9 | g.92718749del | CA5126459 | BICD2 | c.1896del (p.Ile633SerfsTer?) c.1977del (p.Ile660SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718749A>C | CA466342891 | BICD2 | c.1896T>G (p.Ala632=) c.1977T>G (p.Ala659=) | gnomAD v4 |
| 9 | g.92718749A>G | CA466342892 | BICD2 | c.1896T>C (p.Ala632=) c.1977T>C (p.Ala659=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718749A>T | CA466342893 | BICD2 | c.1896T>A (p.Ala632=) c.1977T>A (p.Ala659=) | |
| 9 | g.92718750G>A | CA374035043 | BICD2 | c.1895C>T (p.Ala632Val) c.1976C>T (p.Ala659Val) | |
| 9 | g.92718750G>C | CA5126460 | BICD2 | c.1895C>G (p.Ala632Gly) c.1976C>G (p.Ala659Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718750G= | CA1864360810 | BICD2 | c.1895C= (p.Ala632=) c.1976C= (p.Ala659=) | |
| 9 | g.92718750G>T | CA374035047 | BICD2 | c.1895C>A (p.Ala632Asp) c.1976C>A (p.Ala659Asp) | |
| 9 | g.92718751C>A | CA374035051 | BICD2 | c.1894G>T (p.Ala632Ser) c.1975G>T (p.Ala659Ser) | |
| 9 | g.92718751C>G | CA374035053 | BICD2 | c.1894G>C (p.Ala632Pro) c.1975G>C (p.Ala659Pro) | |
| 9 | g.92718751C>T | CA374035056 | BICD2 | c.1894G>A (p.Ala632Thr) c.1975G>A (p.Ala659Thr) | |
| 9 | g.92718752G>A | CA5126461 | BICD2 | c.1893C>T (p.Ile631=) c.1974C>T (p.Ile658=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92718752G>C | CA196339967 | BICD2 | c.1893C>G (p.Ile631Met) c.1974C>G (p.Ile658Met) | dbSNP gnomAD v4 |
| 9 | g.92718752G= | CA1864360818 | BICD2 | c.1893C= (p.Ile631=) c.1974C= (p.Ile658=) | |
| 9 | g.92718752G>T | CA466342895 | BICD2 | c.1893C>A (p.Ile631=) c.1974C>A (p.Ile658=) | dbSNP |
| 9 | g.92718753A>C | CA374035068 | BICD2 | c.1892T>G (p.Ile631Ser) c.1973T>G (p.Ile658Ser) | |
| 9 | g.92718753A>G | CA374035066 | BICD2 | c.1892T>C (p.Ile631Thr) c.1973T>C (p.Ile658Thr) | |
| 9 | g.92718753A>T | CA374035063 | BICD2 | c.1892T>A (p.Ile631Asn) c.1973T>A (p.Ile658Asn) | |
| 9 | g.92718754T>A | CA374035072 | BICD2 | c.1891A>T (p.Ile631Phe) c.1972A>T (p.Ile658Phe) | |
| 9 | g.92718754T>C | CA374035074 | BICD2 | c.1891A>G (p.Ile631Val) c.1972A>G (p.Ile658Val) | |
| 9 | g.92718754T>G | CA374035077 | BICD2 | c.1891A>C (p.Ile631Leu) c.1972A>C (p.Ile658Leu) | |
| 9 | g.92718755C>A | CA466342899 | BICD2 | c.1890G>T (p.Leu630=) c.1971G>T (p.Leu657=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718755C= | CA1864360828 | BICD2 | c.1890G= (p.Leu630=) c.1971G= (p.Leu657=) | |
| 9 | g.92718755C>G | CA466342900 | BICD2 | c.1890G>C (p.Leu630=) c.1971G>C (p.Leu657=) | |
| 9 | g.92718755C>T | CA466342901 | BICD2 | c.1890G>A (p.Leu630=) c.1971G>A (p.Leu657=) | |
| 9 | g.92718756A>C | CA374035080 | BICD2 | c.1889T>G (p.Leu630Arg) c.1970T>G (p.Leu657Arg) | |
| 9 | g.92718756A>G | CA374035082 | BICD2 | c.1889T>C (p.Leu630Pro) c.1970T>C (p.Leu657Pro) | |
| 9 | g.92718756A>T | CA374035084 | BICD2 | c.1889T>A (p.Leu630Gln) c.1970T>A (p.Leu657Gln) | |
| 9 | g.92718757G>A | CA466342904 | BICD2 | c.1888C>T (p.Leu630=) c.1969C>T (p.Leu657=) | |
| 9 | g.92718757G>C | CA374035086 | BICD2 | c.1888C>G (p.Leu630Val) c.1969C>G (p.Leu657Val) | |
| 9 | g.92718757G>T | CA374035088 | BICD2 | c.1888C>A (p.Leu630Met) c.1969C>A (p.Leu657Met) | |
| 9 | g.92718758G>A | CA466342905 | BICD2 | c.1887C>T (p.Asn629=) c.1968C>T (p.Asn656=) | |
| 9 | g.92718758G>C | CA374035090 | BICD2 | c.1887C>G (p.Asn629Lys) c.1968C>G (p.Asn656Lys) | |
| 9 | g.92718758G>T | CA374035093 | BICD2 | c.1887C>A (p.Asn629Lys) c.1968C>A (p.Asn656Lys) | |
| 9 | g.92718759T>A | CA374035096 | BICD2 | c.1886A>T (p.Asn629Ile) c.1967A>T (p.Asn656Ile) | |
| 9 | g.92718759T>C | CA5126462 | BICD2 | c.1886A>G (p.Asn629Ser) c.1967A>G (p.Asn656Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718759T>G | CA374035102 | BICD2 | c.1886A>C (p.Asn629Thr) c.1967A>C (p.Asn656Thr) | |
| 9 | g.92718759T= | CA1864360833 | BICD2 | c.1886A= (p.Asn629=) c.1967A= (p.Asn656=) | |
| 9 | g.92718760T>A | CA374035111 | BICD2 | c.1885A>T (p.Asn629Tyr) c.1966A>T (p.Asn656Tyr) | |
| 9 | g.92718760T>C | CA374035108 | BICD2 | c.1885A>G (p.Asn629Asp) c.1966A>G (p.Asn656Asp) | |
| 9 | g.92718760T>G | CA374035105 | BICD2 | c.1885A>C (p.Asn629His) c.1966A>C (p.Asn656His) | |
| 9 | g.92718761G>A | CA466342908 | BICD2 | c.1884C>T (p.Tyr628=) c.1965C>T (p.Tyr655=) | |
| 9 | g.92718761G>C | CA374035117 | BICD2 | c.1884C>G (p.Tyr628Ter) c.1965C>G (p.Tyr655Ter) | |
| 9 | g.92718761G>T | CA374035114 | BICD2 | c.1884C>A (p.Tyr628Ter) c.1965C>A (p.Tyr655Ter) | |
| 9 | g.92718762T>A | CA374035124 | BICD2 | c.1883A>T (p.Tyr628Phe) c.1964A>T (p.Tyr655Phe) | |
| 9 | g.92718762T>C | CA374035120 | BICD2 | c.1883A>G (p.Tyr628Cys) c.1964A>G (p.Tyr655Cys) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718762T>G | CA374035121 | BICD2 | c.1883A>C (p.Tyr628Ser) c.1964A>C (p.Tyr655Ser) | |
| 9 | g.92718762T= | CA1864360838 | BICD2 | c.1883A= (p.Tyr628=) c.1964A= (p.Tyr655=) | |
| 9 | g.92718763A= | CA1864360845 | BICD2 | c.1882T= (p.Tyr628=) c.1963T= (p.Tyr655=) | |
| 9 | g.92718763A>C | CA5126463 | BICD2 | c.1882T>G (p.Tyr628Asp) c.1963T>G (p.Tyr655Asp) | dbSNP ExAC gnomAD v2 |
| 9 | g.92718763A>G | CA374035129 | BICD2 | c.1882T>C (p.Tyr628His) c.1963T>C (p.Tyr655His) | |
| 9 | g.92718763A>T | CA374035132 | BICD2 | c.1882T>A (p.Tyr628Asn) c.1963T>A (p.Tyr655Asn) | |
| 9 | g.92718764G>A | CA466342909 | BICD2 | c.1881C>T (p.Ile627=) c.1962C>T (p.Ile654=) | |
| 9 | g.92718764G>C | CA374035135 | BICD2 | c.1881C>G (p.Ile627Met) c.1962C>G (p.Ile654Met) | |
| 9 | g.92718764G= | CA1864360848 | BICD2 | c.1881C= (p.Ile627=) c.1962C= (p.Ile654=) | |
| 9 | g.92718764G>T | CA466342910 | BICD2 | c.1881C>A (p.Ile627=) c.1962C>A (p.Ile654=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718765A>C | CA374035139 | BICD2 | c.1880T>G (p.Ile627Ser) c.1961T>G (p.Ile654Ser) | |
| 9 | g.92718765A>G | CA374035141 | BICD2 | c.1880T>C (p.Ile627Thr) c.1961T>C (p.Ile654Thr) | |
| 9 | g.92718765A>T | CA374035143 | BICD2 | c.1880T>A (p.Ile627Asn) c.1961T>A (p.Ile654Asn) | |
| 9 | g.92718766T>A | CA374035146 | BICD2 | c.1879A>T (p.Ile627Phe) c.1960A>T (p.Ile654Phe) | |
| 9 | g.92718766T>C | CA374035149 | BICD2 | c.1879A>G (p.Ile627Val) c.1960A>G (p.Ile654Val) | |
| 9 | g.92718766T>G | CA374035151 | BICD2 | c.1879A>C (p.Ile627Leu) c.1960A>C (p.Ile654Leu) | |
| 9 | g.92718767G>A | CA5126464 | BICD2 | c.1878C>T (p.Asn626=) c.1959C>T (p.Asn653=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718767G>C | CA374035157 | BICD2 | c.1878C>G (p.Asn626Lys) c.1959C>G (p.Asn653Lys) | |
| 9 | g.92718767G= | CA1864360852 | BICD2 | c.1878C= (p.Asn626=) c.1959C= (p.Asn653=) | |
| 9 | g.92718767G>T | CA374035154 | BICD2 | c.1878C>A (p.Asn626Lys) c.1959C>A (p.Asn653Lys) | |
| 9 | g.92718768T>A | CA374035162 | BICD2 | c.1877A>T (p.Asn626Ile) c.1958A>T (p.Asn653Ile) | |
| 9 | g.92718768T>C | CA374035164 | BICD2 | c.1877A>G (p.Asn626Ser) c.1958A>G (p.Asn653Ser) | |
| 9 | g.92718768T>G | CA374035168 | BICD2 | c.1877A>C (p.Asn626Thr) c.1958A>C (p.Asn653Thr) | |
| 9 | g.92718769T>A | CA374035171 | BICD2 | c.1876A>T (p.Asn626Tyr) c.1957A>T (p.Asn653Tyr) | |
| 9 | g.92718769T>C | CA374035173 | BICD2 | c.1876A>G (p.Asn626Asp) c.1957A>G (p.Asn653Asp) | gnomAD v4 |
| 9 | g.92718769T>G | CA374035175 | BICD2 | c.1876A>C (p.Asn626His) c.1957A>C (p.Asn653His) | |
| 9 | g.92718770C>A | CA374035179 | BICD2 | c.1875G>T (p.Met625Ile) c.1956G>T (p.Met652Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718770C= | CA1864360853 | BICD2 | c.1875G= (p.Met625=) c.1956G= (p.Met652=) | |
| 9 | g.92718770C>G | CA374035181 | BICD2 | c.1875G>C (p.Met625Ile) c.1956G>C (p.Met652Ile) | |
| 9 | g.92718770C>T | CA374035184 | BICD2 | c.1875G>A (p.Met625Ile) c.1956G>A (p.Met652Ile) | |
| 9 | g.92718771A= | CA1864360855 | BICD2 | c.1874T= (p.Met625=) c.1955T= (p.Met652=) | |
| 9 | g.92718771A>C | CA374035186 | BICD2 | c.1874T>G (p.Met625Arg) c.1955T>G (p.Met652Arg) | |
| 9 | g.92718771A>G | CA374035188 | BICD2 | c.1874T>C (p.Met625Thr) c.1955T>C (p.Met652Thr) | dbSNP |
| 9 | g.92718771A>T | CA374035190 | BICD2 | c.1874T>A (p.Met625Lys) c.1955T>A (p.Met652Lys) | |
| 9 | g.92718772T>A | CA374035197 | BICD2 | c.1873A>T (p.Met625Leu) c.1954A>T (p.Met652Leu) | |
| 9 | g.92718772T>C | CA374035194 | BICD2 | c.1873A>G (p.Met625Val) c.1954A>G (p.Met652Val) | |
| 9 | g.92718772T>G | CA374035192 | BICD2 | c.1873A>C (p.Met625Leu) c.1954A>C (p.Met652Leu) | |
| 9 | g.92718773G>A | CA466342922 | BICD2 | c.1872C>T (p.Pro624=) c.1953C>T (p.Pro651=) | |
| 9 | g.92718773G>C | CA466342921 | BICD2 | c.1872C>G (p.Pro624=) c.1953C>G (p.Pro651=) | gnomAD v4 |
| 9 | g.92718773G>T | CA466342920 | BICD2 | c.1872C>A (p.Pro624=) c.1953C>A (p.Pro651=) | |
| 9 | g.92718774G>A | CA374035200 | BICD2 | c.1871C>T (p.Pro624Leu) c.1952C>T (p.Pro651Leu) | |
| 9 | g.92718774G>C | CA374035202 | BICD2 | c.1871C>G (p.Pro624Arg) c.1952C>G (p.Pro651Arg) | |
| 9 | g.92718774G>T | CA374035204 | BICD2 | c.1871C>A (p.Pro624His) c.1952C>A (p.Pro651His) | gnomAD v4 |
| 9 | g.92718775G>A | CA374035208 | BICD2 | c.1870C>T (p.Pro624Ser) c.1951C>T (p.Pro651Ser) | |
| 9 | g.92718775G>C | CA374035211 | BICD2 | c.1870C>G (p.Pro624Ala) c.1951C>G (p.Pro651Ala) | |
| 9 | g.92718775G>T | CA374035214 | BICD2 | c.1870C>A (p.Pro624Thr) c.1951C>A (p.Pro651Thr) | |
| 9 | g.92718776C>A | CA374035222 | BICD2 | c.1869G>T (p.Glu623Asp) c.1950G>T (p.Glu650Asp) | |
| 9 | g.92718776C= | CA1864360859 | BICD2 | c.1869G= (p.Glu623=) c.1950G= (p.Glu650=) | |
| 9 | g.92718776C>G | CA374035218 | BICD2 | c.1869G>C (p.Glu623Asp) c.1950G>C (p.Glu650Asp) | |
| 9 | g.92718776C>T | CA466342927 | BICD2 | c.1869G>A (p.Glu623=) c.1950G>A (p.Glu650=) | dbSNP |
| 9 | g.92718777T>A | CA374035224 | BICD2 | c.1868A>T (p.Glu623Val) c.1949A>T (p.Glu650Val) | |
| 9 | g.92718777T>C | CA374035225 | BICD2 | c.1868A>G (p.Glu623Gly) c.1949A>G (p.Glu650Gly) | |
| 9 | g.92718777T>G | CA374035228 | BICD2 | c.1868A>C (p.Glu623Ala) c.1949A>C (p.Glu650Ala) | |
| 9 | g.92718778C>A | CA374035233 | BICD2 | c.1867G>T (p.Glu623Ter) c.1948G>T (p.Glu650Ter) | |
| 9 | g.92718778C>G | CA374035246 | BICD2 | c.1867G>C (p.Glu623Gln) c.1948G>C (p.Glu650Gln) | |
| 9 | g.92718778C>T | CA374035249 | BICD2 | c.1867G>A (p.Glu623Lys) c.1948G>A (p.Glu650Lys) | COSMIC COSMIC |
| 9 | g.92718779C>A | CA466342930 | BICD2 | c.1866G>T (p.Arg622=) c.1947G>T (p.Arg649=) | |
| 9 | g.92718779C>G | CA466342931 | BICD2 | c.1866G>C (p.Arg622=) c.1947G>C (p.Arg649=) | |
| 9 | g.92718779C>T | CA466342932 | BICD2 | c.1866G>A (p.Arg622=) c.1947G>A (p.Arg649=) | |
| 9 | g.92718780C>A | CA374035252 | BICD2 | c.1865G>T (p.Arg622Leu) c.1946G>T (p.Arg649Leu) | |
| 9 | g.92718780C= | CA1864360864 | BICD2 | c.1865G= (p.Arg622=) c.1946G= (p.Arg649=) | |
| 9 | g.92718780C>G | CA374035257 | BICD2 | c.1865G>C (p.Arg622Pro) c.1946G>C (p.Arg649Pro) | |
| 9 | g.92718780C>T | CA5126465 | BICD2 | c.1865G>A (p.Arg622Gln) c.1946G>A (p.Arg649Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718781G>A | CA374035261 | BICD2 | c.1864C>T (p.Arg622Trp) c.1945C>T (p.Arg649Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718781G>C | CA374035265 | BICD2 | c.1864C>G (p.Arg622Gly) c.1945C>G (p.Arg649Gly) | |
| 9 | g.92718781G= | CA1864360866 | BICD2 | c.1864C= (p.Arg622=) c.1945C= (p.Arg649=) | |
| 9 | g.92718781G>T | CA466342934 | BICD2 | c.1864C>A (p.Arg622=) c.1945C>A (p.Arg649=) | dbSNP |