| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92718544T>A | CA374033568 | BICD2 | c.2101A>T (p.Lys701Ter) c.2182A>T (p.Lys728Ter) | |
| 9 | g.92718544T>C | CA374033570 | BICD2 | c.2101A>G (p.Lys701Glu) c.2182A>G (p.Lys728Glu) | |
| 9 | g.92718544T>G | CA374033573 | BICD2 | c.2101A>C (p.Lys701Gln) c.2182A>C (p.Lys728Gln) | |
| 9 | g.92718545G>A | CA466029952 | BICD2 | c.2100C>T (p.Asn700=) c.2181C>T (p.Asn727=) | gnomAD v4 |
| 9 | g.92718545G>C | CA374033582 | BICD2 | c.2100C>G (p.Asn700Lys) c.2181C>G (p.Asn727Lys) | ClinVar |
| 9 | g.92718545G>T | CA374033579 | BICD2 | c.2100C>A (p.Asn700Lys) c.2181C>A (p.Asn727Lys) | ClinVar gnomAD v4 |
| 9 | g.92718546T>A | CA374033583 | BICD2 | c.2099A>T (p.Asn700Ile) c.2180A>T (p.Asn727Ile) | |
| 9 | g.92718546T>C | CA374033584 | BICD2 | c.2099A>G (p.Asn700Ser) c.2180A>G (p.Asn727Ser) | |
| 9 | g.92718546T>G | CA374033588 | BICD2 | c.2099A>C (p.Asn700Thr) c.2180A>C (p.Asn727Thr) | |
| 9 | g.92718547T>A | CA374033600 | BICD2 | c.2098A>T (p.Asn700Tyr) c.2179A>T (p.Asn727Tyr) | |
| 9 | g.92718547T>C | CA374033604 | BICD2 | c.2098A>G (p.Asn700Asp) c.2179A>G (p.Asn727Asp) | |
| 9 | g.92718547T>G | CA374033605 | BICD2 | c.2098A>C (p.Asn700His) c.2179A>C (p.Asn727His) | |
| 9 | g.92718548G>A | CA5126414 | BICD2 | c.2097C>T (p.Ala699=) c.2178C>T (p.Ala726=) | dbSNP ExAC gnomAD v2 |
| 9 | g.92718548G>C | CA466029954 | BICD2 | c.2097C>G (p.Ala699=) c.2178C>G (p.Ala726=) | |
| 9 | g.92718548G= | CA1864360408 | BICD2 | c.2097C= (p.Ala699=) c.2178C= (p.Ala726=) | |
| 9 | g.92718548G>T | CA466029953 | BICD2 | c.2097C>A (p.Ala699=) c.2178C>A (p.Ala726=) | |
| 9 | g.92718549G>A | CA374033611 | BICD2 | c.2096C>T (p.Ala699Val) c.2177C>T (p.Ala726Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718549G>C | CA374033616 | BICD2 | c.2096C>G (p.Ala699Gly) c.2177C>G (p.Ala726Gly) | |
| 9 | g.92718549G= | CA1864360411 | BICD2 | c.2096C= (p.Ala699=) c.2177C= (p.Ala726=) | |
| 9 | g.92718549G>T | CA374033617 | BICD2 | c.2096C>A (p.Ala699Asp) c.2177C>A (p.Ala726Asp) | |
| 9 | g.92718550C>A | CA374033622 | BICD2 | c.2095G>T (p.Ala699Ser) c.2176G>T (p.Ala726Ser) | |
| 9 | g.92718550C>G | CA374033625 | BICD2 | c.2095G>C (p.Ala699Pro) c.2176G>C (p.Ala726Pro) | |
| 9 | g.92718550C>T | CA374033627 | BICD2 | c.2095G>A (p.Ala699Thr) c.2176G>A (p.Ala726Thr) | |
| 9 | g.92718551C>A | CA374033630 | BICD2 | c.2094G>T (p.Lys698Asn) c.2175G>T (p.Lys725Asn) | gnomAD v4 |
| 9 | g.92718551C= | CA1864360414 | BICD2 | c.2094G= (p.Lys698=) c.2175G= (p.Lys725=) | |
| 9 | g.92718551C>G | CA374033635 | BICD2 | c.2094G>C (p.Lys698Asn) c.2175G>C (p.Lys725Asn) | gnomAD v4 |
| 9 | g.92718551C>T | CA466029955 | BICD2 | c.2094G>A (p.Lys698=) c.2175G>A (p.Lys725=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718552T>A | CA374033637 | BICD2 | c.2093A>T (p.Lys698Met) c.2174A>T (p.Lys725Met) | |
| 9 | g.92718552T>C | CA374033641 | BICD2 | c.2093A>G (p.Lys698Arg) c.2174A>G (p.Lys725Arg) | |
| 9 | g.92718552T>G | CA374033650 | BICD2 | c.2093A>C (p.Lys698Thr) c.2174A>C (p.Lys725Thr) | |
| 9 | g.92718553T>A | CA374033652 | BICD2 | c.2092A>T (p.Lys698Ter) c.2173A>T (p.Lys725Ter) | |
| 9 | g.92718553T>C | CA374033655 | BICD2 | c.2092A>G (p.Lys698Glu) c.2173A>G (p.Lys725Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718553T>G | CA374033656 | BICD2 | c.2092A>C (p.Lys698Gln) c.2173A>C (p.Lys725Gln) | |
| 9 | g.92718553T= | CA1864360418 | BICD2 | c.2092A= (p.Lys698=) c.2173A= (p.Lys725=) | |
| 9 | g.92718554G>A | CA466029956 | BICD2 | c.2091C>T (p.Leu697=) c.2172C>T (p.Leu724=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718554G>C | CA5126415 | BICD2 | c.2091C>G (p.Leu697=) c.2172C>G (p.Leu724=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718554G= | CA1864360421 | BICD2 | c.2091C= (p.Leu697=) c.2172C= (p.Leu724=) | |
| 9 | g.92718554G>T | CA466029957 | BICD2 | c.2091C>A (p.Leu697=) c.2172C>A (p.Leu724=) | |
| 9 | g.92718555A>C | CA374033664 | BICD2 | c.2090T>G (p.Leu697Arg) c.2171T>G (p.Leu724Arg) | |
| 9 | g.92718555A>G | CA374033672 | BICD2 | c.2090T>C (p.Leu697Pro) c.2171T>C (p.Leu724Pro) | |
| 9 | g.92718555A>T | CA374033680 | BICD2 | c.2090T>A (p.Leu697His) c.2171T>A (p.Leu724His) | |
| 9 | g.92718556G>A | CA374033684 | BICD2 | c.2089C>T (p.Leu697Phe) c.2170C>T (p.Leu724Phe) | |
| 9 | g.92718556G>C | CA374033690 | BICD2 | c.2089C>G (p.Leu697Val) c.2170C>G (p.Leu724Val) | |
| 9 | g.92718556G>T | CA374033694 | BICD2 | c.2089C>A (p.Leu697Ile) c.2170C>A (p.Leu724Ile) | |
| 9 | g.92718557C>A | CA466029958 | BICD2 | c.2088G>T (p.Val696=) c.2169G>T (p.Val723=) | |
| 9 | g.92718557C>G | CA466029959 | BICD2 | c.2088G>C (p.Val696=) c.2169G>C (p.Val723=) | |
| 9 | g.92718557C>T | CA466029960 | BICD2 | c.2088G>A (p.Val696=) c.2169G>A (p.Val723=) | |
| 9 | g.92718558A>C | CA374033699 | BICD2 | c.2087T>G (p.Val696Gly) c.2168T>G (p.Val723Gly) | |
| 9 | g.92718558A>G | CA374033697 | BICD2 | c.2087T>C (p.Val696Ala) c.2168T>C (p.Val723Ala) | |
| 9 | g.92718558A>T | CA374033698 | BICD2 | c.2087T>A (p.Val696Glu) c.2168T>A (p.Val723Glu) | |
| 9 | g.92718559C>A | CA374033702 | BICD2 | c.2086G>T (p.Val696Leu) c.2167G>T (p.Val723Leu) | |
| 9 | g.92718559C>G | CA374033705 | BICD2 | c.2086G>C (p.Val696Leu) c.2167G>C (p.Val723Leu) | ClinVar gnomAD v4 |
| 9 | g.92718559C>T | CA374033708 | BICD2 | c.2086G>A (p.Val696Met) c.2167G>A (p.Val723Met) | gnomAD v4 |
| 9 | g.92718560A= | CA1864360424 | BICD2 | c.2085T= (p.Thr695=) c.2166T= (p.Thr722=) | |
| 9 | g.92718560A>C | CA466029961 | BICD2 | c.2085T>G (p.Thr695=) c.2166T>G (p.Thr722=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718560A>G | CA466029963 | BICD2 | c.2085T>C (p.Thr695=) c.2166T>C (p.Thr722=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718560A>T | CA466029962 | BICD2 | c.2085T>A (p.Thr695=) c.2166T>A (p.Thr722=) | |
| 9 | g.92718560_92718561del | CA2690686264 | BICD2 | c.2084_2085del (p.Thr695SerfsTer21) c.2165_2166del (p.Thr722SerfsTer21) | gnomAD v4 |
| 9 | g.92718561G>A | CA5126416 | BICD2 | c.2084C>T (p.Thr695Ile) c.2165C>T (p.Thr722Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718561G>C | CA374033714 | BICD2 | c.2084C>G (p.Thr695Ser) c.2165C>G (p.Thr722Ser) | |
| 9 | g.92718561G= | CA1864360426 | BICD2 | c.2084C= (p.Thr695=) c.2165C= (p.Thr722=) | |
| 9 | g.92718561G>T | CA374033718 | BICD2 | c.2084C>A (p.Thr695Asn) c.2165C>A (p.Thr722Asn) | |
| 9 | g.92718562T>A | CA374033725 | BICD2 | c.2083A>T (p.Thr695Ser) c.2164A>T (p.Thr722Ser) | |
| 9 | g.92718562T>C | CA374033727 | BICD2 | c.2083A>G (p.Thr695Ala) c.2164A>G (p.Thr722Ala) | |
| 9 | g.92718562T>G | CA374033731 | BICD2 | c.2083A>C (p.Thr695Pro) c.2164A>C (p.Thr722Pro) | |
| 9 | g.92718563G>A | CA466029964 | BICD2 | c.2082C>T (p.Arg694=) c.2163C>T (p.Arg721=) | |
| 9 | g.92718563G>C | CA466029965 | BICD2 | c.2082C>G (p.Arg694=) c.2163C>G (p.Arg721=) | |
| 9 | g.92718563G>T | CA466029966 | BICD2 | c.2082C>A (p.Arg694=) c.2163C>A (p.Arg721=) | |
| 9 | g.92718564C>A | CA374033736 | BICD2 | c.2081G>T (p.Arg694Leu) c.2162G>T (p.Arg721Leu) | |
| 9 | g.92718564C>G | CA374033738 | BICD2 | c.2081G>C (p.Arg694Pro) c.2162G>C (p.Arg721Pro) | |
| 9 | g.92718564C>T | CA374033750 | BICD2 | c.2081G>A (p.Arg694His) c.2162G>A (p.Arg721His) | ClinVar dbSNP |
| 9 | g.92718565G>A | CA209708 | BICD2 | c.2080C>T (p.Arg694Cys) c.2161C>T (p.Arg721Cys) | ClinVar dbSNP |
| 9 | g.92718565G>C | CA374033758 | BICD2 | c.2080C>G (p.Arg694Gly) c.2161C>G (p.Arg721Gly) | ClinVar dbSNP |
| 9 | g.92718565G= | CA1864360434 | BICD2 | c.2080C= (p.Arg694=) c.2161C= (p.Arg721=) | |
| 9 | g.92718565G>T | CA374033754 | BICD2 | c.2080C>A (p.Arg694Ser) c.2161C>A (p.Arg721Ser) | dbSNP gnomAD v2 |
| 9 | g.92718566C>A | CA466029967 | BICD2 | c.2079G>T (p.Leu693=) c.2160G>T (p.Leu720=) | |
| 9 | g.92718566C>G | CA466029968 | BICD2 | c.2079G>C (p.Leu693=) c.2160G>C (p.Leu720=) | |
| 9 | g.92718566C>T | CA466029969 | BICD2 | c.2079G>A (p.Leu693=) c.2160G>A (p.Leu720=) | |
| 9 | g.92718567A>C | CA374033773 | BICD2 | c.2078T>G (p.Leu693Arg) c.2159T>G (p.Leu720Arg) | |
| 9 | g.92718567A>G | CA374033760 | BICD2 | c.2078T>C (p.Leu693Pro) c.2159T>C (p.Leu720Pro) | |
| 9 | g.92718567A>T | CA374033769 | BICD2 | c.2078T>A (p.Leu693Gln) c.2159T>A (p.Leu720Gln) | |
| 9 | g.92718568G>A | CA466029970 | BICD2 | c.2077C>T (p.Leu693=) c.2158C>T (p.Leu720=) | |
| 9 | g.92718568G>C | CA374033778 | BICD2 | c.2077C>G (p.Leu693Val) c.2158C>G (p.Leu720Val) | |
| 9 | g.92718568G>T | CA374033791 | BICD2 | c.2077C>A (p.Leu693Met) c.2158C>A (p.Leu720Met) | |
| 9 | g.92718569C>A | CA5126418 | BICD2 | c.2076G>T (p.Thr692=) c.2157G>T (p.Thr719=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718569C= | CA1864360447 | BICD2 | c.2076G= (p.Thr692=) c.2157G= (p.Thr719=) | |
| 9 | g.92718569C>G | CA466029971 | BICD2 | c.2076G>C (p.Thr692=) c.2157G>C (p.Thr719=) | |
| 9 | g.92718569C>T | CA5126417 | BICD2 | c.2076G>A (p.Thr692=) c.2157G>A (p.Thr719=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718570G>A | CA5126419 | BICD2 | c.2075C>T (p.Thr692Met) c.2156C>T (p.Thr719Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718570G>C | CA374033815 | BICD2 | c.2075C>G (p.Thr692Arg) c.2156C>G (p.Thr719Arg) | |
| 9 | g.92718570G= | CA1864360454 | BICD2 | c.2075C= (p.Thr692=) c.2156C= (p.Thr719=) | |
| 9 | g.92718570G>T | CA374033807 | BICD2 | c.2075C>A (p.Thr692Lys) c.2156C>A (p.Thr719Lys) | |
| 9 | g.92718571T>A | CA374033832 | BICD2 | c.2074A>T (p.Thr692Ser) c.2155A>T (p.Thr719Ser) | |
| 9 | g.92718571T>C | CA374033840 | BICD2 | c.2074A>G (p.Thr692Ala) c.2155A>G (p.Thr719Ala) | |
| 9 | g.92718571T>G | CA374033849 | BICD2 | c.2074A>C (p.Thr692Pro) c.2155A>C (p.Thr719Pro) | |
| 9 | g.92718572G>A | CA466029972 | BICD2 | c.2073C>T (p.Thr691=) c.2154C>T (p.Thr718=) | |
| 9 | g.92718572G>C | CA466029973 | BICD2 | c.2073C>G (p.Thr691=) c.2154C>G (p.Thr718=) | |
| 9 | g.92718572G>T | CA466029974 | BICD2 | c.2073C>A (p.Thr691=) c.2154C>A (p.Thr718=) | |
| 9 | g.92718573G>A | CA374033853 | BICD2 | c.2072C>T (p.Thr691Ile) c.2153C>T (p.Thr718Ile) | |
| 9 | g.92718573G>C | CA5126420 | BICD2 | c.2072C>G (p.Thr691Ser) c.2153C>G (p.Thr718Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718573G= | CA1864360458 | BICD2 | c.2072C= (p.Thr691=) c.2153C= (p.Thr718=) | |
| 9 | g.92718573G>T | CA374033864 | BICD2 | c.2072C>A (p.Thr691Asn) c.2153C>A (p.Thr718Asn) | |
| 9 | g.92718574T>A | CA374033881 | BICD2 | c.2071A>T (p.Thr691Ser) c.2152A>T (p.Thr718Ser) | |
| 9 | g.92718574T>C | CA374033889 | BICD2 | c.2071A>G (p.Thr691Ala) c.2152A>G (p.Thr718Ala) | |
| 9 | g.92718574T>G | CA374033884 | BICD2 | c.2071A>C (p.Thr691Pro) c.2152A>C (p.Thr718Pro) | |
| 9 | g.92718575G>A | CA466029975 | BICD2 | c.2070C>T (p.Ile690=) c.2151C>T (p.Ile717=) | |
| 9 | g.92718575G>C | CA374033891 | BICD2 | c.2070C>G (p.Ile690Met) c.2151C>G (p.Ile717Met) | |
| 9 | g.92718575G>T | CA466029976 | BICD2 | c.2070C>A (p.Ile690=) c.2151C>A (p.Ile717=) | |
| 9 | g.92718576A>C | CA374033893 | BICD2 | c.2069T>G (p.Ile690Ser) c.2150T>G (p.Ile717Ser) | |
| 9 | g.92718576A>G | CA374033895 | BICD2 | c.2069T>C (p.Ile690Thr) c.2150T>C (p.Ile717Thr) | |
| 9 | g.92718576A>T | CA374033901 | BICD2 | c.2069T>A (p.Ile690Asn) c.2150T>A (p.Ile717Asn) | |
| 9 | g.92718577T>A | CA374033907 | BICD2 | c.2068A>T (p.Ile690Phe) c.2149A>T (p.Ile717Phe) | |
| 9 | g.92718577T>C | CA374033909 | BICD2 | c.2068A>G (p.Ile690Val) c.2149A>G (p.Ile717Val) | |
| 9 | g.92718577T>G | CA374033927 | BICD2 | c.2068A>C (p.Ile690Leu) c.2149A>C (p.Ile717Leu) | |
| 9 | g.92718578C>A | CA374033935 | BICD2 | c.2067G>T (p.Gln689His) c.2148G>T (p.Gln716His) | |
| 9 | g.92718578C>G | CA374033936 | BICD2 | c.2067G>C (p.Gln689His) c.2148G>C (p.Gln716His) | |
| 9 | g.92718578C>T | CA466342687 | BICD2 | c.2067G>A (p.Gln689=) c.2148G>A (p.Gln716=) | |
| 9 | g.92718579T>A | CA374033939 | BICD2 | c.2066A>T (p.Gln689Leu) c.2147A>T (p.Gln716Leu) | |
| 9 | g.92718579T>C | CA374033942 | BICD2 | c.2066A>G (p.Gln689Arg) c.2147A>G (p.Gln716Arg) | ClinVar dbSNP |
| 9 | g.92718579T>G | CA374033943 | BICD2 | c.2066A>C (p.Gln689Pro) c.2147A>C (p.Gln716Pro) | |
| 9 | g.92718579T= | CA1864360463 | BICD2 | c.2066A= (p.Gln689=) c.2147A= (p.Gln716=) | |
| 9 | g.92718580G>A | CA374033947 | BICD2 | c.2065C>T (p.Gln689Ter) c.2146C>T (p.Gln716Ter) | gnomAD v4 |
| 9 | g.92718580G>C | CA374033949 | BICD2 | c.2065C>G (p.Gln689Glu) c.2146C>G (p.Gln716Glu) | ClinVar |
| 9 | g.92718580G>T | CA374033948 | BICD2 | c.2065C>A (p.Gln689Lys) c.2146C>A (p.Gln716Lys) | |
| 9 | g.92718581C>A | CA374033950 | BICD2 | c.2064G>T (p.Glu688Asp) c.2145G>T (p.Glu715Asp) | |
| 9 | g.92718581C= | CA1864360470 | BICD2 | c.2064G= (p.Glu688=) c.2145G= (p.Glu715=) | |
| 9 | g.92718581C>G | CA374033952 | BICD2 | c.2064G>C (p.Glu688Asp) c.2145G>C (p.Glu715Asp) | |
| 9 | g.92718581C>T | CA466342691 | BICD2 | c.2064G>A (p.Glu688=) c.2145G>A (p.Glu715=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718582T>A | CA374033955 | BICD2 | c.2063A>T (p.Glu688Val) c.2144A>T (p.Glu715Val) | |
| 9 | g.92718582T>C | CA374033956 | BICD2 | c.2063A>G (p.Glu688Gly) c.2144A>G (p.Glu715Gly) | |
| 9 | g.92718582T>G | CA374033958 | BICD2 | c.2063A>C (p.Glu688Ala) c.2144A>C (p.Glu715Ala) | |
| 9 | g.92718583C>A | CA374033964 | BICD2 | c.2062G>T (p.Glu688Ter) c.2143G>T (p.Glu715Ter) | |
| 9 | g.92718583C>G | CA374033967 | BICD2 | c.2062G>C (p.Glu688Gln) c.2143G>C (p.Glu715Gln) | |
| 9 | g.92718583C>T | CA374033968 | BICD2 | c.2062G>A (p.Glu688Lys) c.2143G>A (p.Glu715Lys) | |
| 9 | g.92718584C>A | CA466342692 | BICD2 | c.2061G>T (p.Arg687=) c.2142G>T (p.Arg714=) | |
| 9 | g.92718584C>G | CA466342693 | BICD2 | c.2061G>C (p.Arg687=) c.2142G>C (p.Arg714=) | |
| 9 | g.92718584C>T | CA466342694 | BICD2 | c.2061G>A (p.Arg687=) c.2142G>A (p.Arg714=) | |
| 9 | g.92718585C>A | CA374033972 | BICD2 | c.2060G>T (p.Arg687Leu) c.2141G>T (p.Arg714Leu) | |
| 9 | g.92718585C= | CA1864360475 | BICD2 | c.2060G= (p.Arg687=) c.2141G= (p.Arg714=) | |
| 9 | g.92718585C>G | CA374033975 | BICD2 | c.2060G>C (p.Arg687Pro) c.2141G>C (p.Arg714Pro) | |
| 9 | g.92718585C>T | CA196339713 | BICD2 | c.2060G>A (p.Arg687Gln) c.2141G>A (p.Arg714Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718586G>A | CA5126421 | BICD2 | c.2059C>T (p.Arg687Trp) c.2140C>T (p.Arg714Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718586G>C | CA374033990 | BICD2 | c.2059C>G (p.Arg687Gly) c.2140C>G (p.Arg714Gly) | |
| 9 | g.92718586G= | CA1864360480 | BICD2 | c.2059C= (p.Arg687=) c.2140C= (p.Arg714=) | |
| 9 | g.92718586G>T | CA466342696 | BICD2 | c.2059C>A (p.Arg687=) c.2140C>A (p.Arg714=) | |
| 9 | g.92718588_92718599dup | CA2580080668 | BICD2 | c.2048_2059dup (p.Lys686_Arg687insLeuSerThrLys) c.2129_2140dup (p.Lys713_Arg714insLeuSerThrLys) | ClinVar |
| 9 | g.92718587C>A | CA374034006 | BICD2 | c.2058G>T (p.Lys686Asn) c.2139G>T (p.Lys713Asn) | ClinVar dbSNP |
| 9 | g.92718587C= | CA1864360486 | BICD2 | c.2058G= (p.Lys686=) c.2139G= (p.Lys713=) | |
| 9 | g.92718587C>G | CA374033994 | BICD2 | c.2058G>C (p.Lys686Asn) c.2139G>C (p.Lys713Asn) | ClinVar |
| 9 | g.92718587C>T | CA5126422 | BICD2 | c.2058G>A (p.Lys686=) c.2139G>A (p.Lys713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718588T>A | CA374034010 | BICD2 | c.2057A>T (p.Lys686Met) c.2138A>T (p.Lys713Met) | ClinVar dbSNP |
| 9 | g.92718588T>C | CA374034018 | BICD2 | c.2057A>G (p.Lys686Arg) c.2138A>G (p.Lys713Arg) | |
| 9 | g.92718588T>G | CA374034023 | BICD2 | c.2057A>C (p.Lys686Thr) c.2138A>C (p.Lys713Thr) | |
| 9 | g.92718588T= | CA1864360490 | BICD2 | c.2057A= (p.Lys686=) c.2138A= (p.Lys713=) | |
| 9 | g.92718589T>A | CA374034027 | BICD2 | c.2056A>T (p.Lys686Ter) c.2137A>T (p.Lys713Ter) | |
| 9 | g.92718589T>C | CA374034029 | BICD2 | c.2056A>G (p.Lys686Glu) c.2137A>G (p.Lys713Glu) | |
| 9 | g.92718589T>G | CA374034031 | BICD2 | c.2056A>C (p.Lys686Gln) c.2137A>C (p.Lys713Gln) | |
| 9 | g.92718590G>A | CA466342700 | BICD2 | c.2055C>T (p.Thr685=) c.2136C>T (p.Thr712=) | |
| 9 | g.92718590G>C | CA466342699 | BICD2 | c.2055C>G (p.Thr685=) c.2136C>G (p.Thr712=) | |
| 9 | g.92718590G>T | CA466342698 | BICD2 | c.2055C>A (p.Thr685=) c.2136C>A (p.Thr712=) | |
| 9 | g.92718591G>A | CA374034034 | BICD2 | c.2054C>T (p.Thr685Ile) c.2135C>T (p.Thr712Ile) | ClinVar |
| 9 | g.92718591G>C | CA374034036 | BICD2 | c.2054C>G (p.Thr685Ser) c.2135C>G (p.Thr712Ser) | |
| 9 | g.92718591G>T | CA374034037 | BICD2 | c.2054C>A (p.Thr685Asn) c.2135C>A (p.Thr712Asn) | |
| 9 | g.92718592T>A | CA374034039 | BICD2 | c.2053A>T (p.Thr685Ser) c.2134A>T (p.Thr712Ser) | |
| 9 | g.92718592T>C | CA374034042 | BICD2 | c.2053A>G (p.Thr685Ala) c.2134A>G (p.Thr712Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718592T>G | CA374034048 | BICD2 | c.2053A>C (p.Thr685Pro) c.2134A>C (p.Thr712Pro) | |
| 9 | g.92718592T= | CA1864360493 | BICD2 | c.2053A= (p.Thr685=) c.2134A= (p.Thr712=) | |
| 9 | g.92718593G>A | CA466342704 | BICD2 | c.2052C>T (p.Ser684=) c.2133C>T (p.Ser711=) | |
| 9 | g.92718593G>C | CA374034051 | BICD2 | c.2052C>G (p.Ser684Arg) c.2133C>G (p.Ser711Arg) | |
| 9 | g.92718593G>T | CA374034052 | BICD2 | c.2052C>A (p.Ser684Arg) c.2133C>A (p.Ser711Arg) | gnomAD v4 |
| 9 | g.92718593_92718594delinsGC | CA1864360495 | BICD2 | c.2051_2052delinsGC (p.Ser684=) c.2132_2133delinsGC (p.Ser711=) | |
| 9 | g.92718594del | CA589579136 | BICD2 | c.2051del (p.Ser684ThrfsTer28) c.2132del (p.Ser711ThrfsTer28) | dbSNP gnomAD v2 |
| 9 | g.92718594C>A | CA374034053 | BICD2 | c.2051G>T (p.Ser684Ile) c.2132G>T (p.Ser711Ile) | |
| 9 | g.92718594C= | CA1864360502 | BICD2 | c.2051G= (p.Ser684=) c.2132G= (p.Ser711=) | |
| 9 | g.92718594C>G | CA196339721 | BICD2 | c.2051G>C (p.Ser684Thr) c.2132G>C (p.Ser711Thr) | dbSNP |
| 9 | g.92718594C>T | CA374034055 | BICD2 | c.2051G>A (p.Ser684Asn) c.2132G>A (p.Ser711Asn) | |
| 9 | g.92718595T>A | CA374034071 | BICD2 | c.2050A>T (p.Ser684Cys) c.2131A>T (p.Ser711Cys) | |
| 9 | g.92718595T>C | CA374034079 | BICD2 | c.2050A>G (p.Ser684Gly) c.2131A>G (p.Ser711Gly) | |
| 9 | g.92718595T>G | CA374034081 | BICD2 | c.2050A>C (p.Ser684Arg) c.2131A>C (p.Ser711Arg) | |
| 9 | g.92718596G>A | CA466342707 | BICD2 | c.2049C>T (p.Leu683=) c.2130C>T (p.Leu710=) | gnomAD v4 |
| 9 | g.92718596G>C | CA466342708 | BICD2 | c.2049C>G (p.Leu683=) c.2130C>G (p.Leu710=) | COSMIC |
| 9 | g.92718596G>T | CA466342709 | BICD2 | c.2049C>A (p.Leu683=) c.2130C>A (p.Leu710=) | |
| 9 | g.92718597A>C | CA374034089 | BICD2 | c.2048T>G (p.Leu683Arg) c.2129T>G (p.Leu710Arg) | |
| 9 | g.92718597A>G | CA374034091 | BICD2 | c.2048T>C (p.Leu683Pro) c.2129T>C (p.Leu710Pro) | |
| 9 | g.92718597A>T | CA374034095 | BICD2 | c.2048T>A (p.Leu683His) c.2129T>A (p.Leu710His) | |
| 9 | g.92718598G>A | CA374034096 | BICD2 | c.2047C>T (p.Leu683Phe) c.2128C>T (p.Leu710Phe) | |
| 9 | g.92718598G>C | CA374034097 | BICD2 | c.2047C>G (p.Leu683Val) c.2128C>G (p.Leu710Val) | |
| 9 | g.92718598G>T | CA374034098 | BICD2 | c.2047C>A (p.Leu683Ile) c.2128C>A (p.Leu710Ile) | |
| 9 | g.92718599C>A | CA466342713 | BICD2 | c.2046G>T (p.Leu682=) c.2127G>T (p.Leu709=) | |
| 9 | g.92718599C>G | CA466342714 | BICD2 | c.2046G>C (p.Leu682=) c.2127G>C (p.Leu709=) | |
| 9 | g.92718599C>T | CA466342715 | BICD2 | c.2046G>A (p.Leu682=) c.2127G>A (p.Leu709=) | |
| 9 | g.92718600A>C | CA374034101 | BICD2 | c.2045T>G (p.Leu682Arg) c.2126T>G (p.Leu709Arg) | |
| 9 | g.92718600A>G | CA374034105 | BICD2 | c.2045T>C (p.Leu682Pro) c.2126T>C (p.Leu709Pro) | |
| 9 | g.92718600A>T | CA374034107 | BICD2 | c.2045T>A (p.Leu682Gln) c.2126T>A (p.Leu709Gln) | |
| 9 | g.92718601G>A | CA466342718 | BICD2 | c.2044C>T (p.Leu682=) c.2125C>T (p.Leu709=) | |
| 9 | g.92718601G>C | CA374034111 | BICD2 | c.2044C>G (p.Leu682Val) c.2125C>G (p.Leu709Val) | |
| 9 | g.92718601G>T | CA374034109 | BICD2 | c.2044C>A (p.Leu682Met) c.2125C>A (p.Leu709Met) | |
| 9 | g.92718602C>A | CA466342719 | BICD2 | c.2043G>T (p.Ser681=) c.2124G>T (p.Ser708=) | |
| 9 | g.92718602C= | CA1864360511 | BICD2 | c.2043G= (p.Ser681=) c.2124G= (p.Ser708=) | |
| 9 | g.92718602C>G | CA466342720 | BICD2 | c.2043G>C (p.Ser681=) c.2124G>C (p.Ser708=) | |
| 9 | g.92718602C>T | CA5126423 | BICD2 | c.2043G>A (p.Ser681=) c.2124G>A (p.Ser708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718603G>A | CA374034117 | BICD2 | c.2042C>T (p.Ser681Leu) c.2123C>T (p.Ser708Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 9 | g.92718603G>C | CA374034118 | BICD2 | c.2042C>G (p.Ser681Trp) c.2123C>G (p.Ser708Trp) | |
| 9 | g.92718603G= | CA1864360521 | BICD2 | c.2042C= (p.Ser681=) c.2123C= (p.Ser708=) | |
| 9 | g.92718603G>T | CA374034119 | BICD2 | c.2042C>A (p.Ser681Ter) c.2123C>A (p.Ser708Ter) | |
| 9 | g.92718604A>C | CA374034120 | BICD2 | c.2041T>G (p.Ser681Ala) c.2122T>G (p.Ser708Ala) | |
| 9 | g.92718604A>G | CA374034124 | BICD2 | c.2041T>C (p.Ser681Pro) c.2122T>C (p.Ser708Pro) | |
| 9 | g.92718604A>T | CA374034127 | BICD2 | c.2041T>A (p.Ser681Thr) c.2122T>A (p.Ser708Thr) | |
| 9 | g.92718605C>A | CA374034137 | BICD2 | c.2040G>T (p.Lys680Asn) c.2121G>T (p.Lys707Asn) | |
| 9 | g.92718605C= | CA1864360527 | BICD2 | c.2040G= (p.Lys680=) c.2121G= (p.Lys707=) | |
| 9 | g.92718605C>G | CA374034139 | BICD2 | c.2040G>C (p.Lys680Asn) c.2121G>C (p.Lys707Asn) | |
| 9 | g.92718605C>T | CA466342724 | BICD2 | c.2040G>A (p.Lys680=) c.2121G>A (p.Lys707=) | dbSNP |
| 9 | g.92718606T>A | CA374034141 | BICD2 | c.2039A>T (p.Lys680Met) c.2120A>T (p.Lys707Met) | |
| 9 | g.92718606T>C | CA5126424 | BICD2 | c.2039A>G (p.Lys680Arg) c.2120A>G (p.Lys707Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718606T>G | CA374034150 | BICD2 | c.2039A>C (p.Lys680Thr) c.2120A>C (p.Lys707Thr) | |
| 9 | g.92718606T= | CA1864360530 | BICD2 | c.2039A= (p.Lys680=) c.2120A= (p.Lys707=) | |
| 9 | g.92718607T>A | CA374034156 | BICD2 | c.2038A>T (p.Lys680Ter) c.2119A>T (p.Lys707Ter) | |
| 9 | g.92718607T>C | CA374034155 | BICD2 | c.2038A>G (p.Lys680Glu) c.2119A>G (p.Lys707Glu) | |
| 9 | g.92718607T>G | CA374034154 | BICD2 | c.2038A>C (p.Lys680Gln) c.2119A>C (p.Lys707Gln) | |
| 9 | g.92718608C>A | CA466342727 | BICD2 | c.2037G>T (p.Leu679=) c.2118G>T (p.Leu706=) | |
| 9 | g.92718608C= | CA1864360533 | BICD2 | c.2037G= (p.Leu679=) c.2118G= (p.Leu706=) | |
| 9 | g.92718608C>G | CA466342728 | BICD2 | c.2037G>C (p.Leu679=) c.2118G>C (p.Leu706=) | |
| 9 | g.92718608C>T | CA196339728 | BICD2 | c.2037G>A (p.Leu679=) c.2118G>A (p.Leu706=) | dbSNP gnomAD v4 |
| 9 | g.92718609A>C | CA374034157 | BICD2 | c.2036T>G (p.Leu679Arg) c.2117T>G (p.Leu706Arg) | ClinVar dbSNP |
| 9 | g.92718609A>G | CA374034158 | BICD2 | c.2036T>C (p.Leu679Pro) c.2117T>C (p.Leu706Pro) | |
| 9 | g.92718609A>T | CA374034160 | BICD2 | c.2036T>A (p.Leu679Gln) c.2117T>A (p.Leu706Gln) | |
| 9 | g.92718610G>A | CA466342729 | BICD2 | c.2035C>T (p.Leu679=) c.2116C>T (p.Leu706=) | gnomAD v4 |
| 9 | g.92718610G>C | CA374034162 | BICD2 | c.2035C>G (p.Leu679Val) c.2116C>G (p.Leu706Val) | |
| 9 | g.92718610G>T | CA374034163 | BICD2 | c.2035C>A (p.Leu679Met) c.2116C>A (p.Leu706Met) | |
| 9 | g.92718611C>A | CA374034172 | BICD2 | c.2034G>T (p.Lys678Asn) c.2115G>T (p.Lys705Asn) | |
| 9 | g.92718611C>G | CA374034173 | BICD2 | c.2034G>C (p.Lys678Asn) c.2115G>C (p.Lys705Asn) | |
| 9 | g.92718611C>T | CA466342732 | BICD2 | c.2034G>A (p.Lys678=) c.2115G>A (p.Lys705=) | |
| 9 | g.92718612T>A | CA374034175 | BICD2 | c.2033A>T (p.Lys678Met) c.2114A>T (p.Lys705Met) | |
| 9 | g.92718612T>C | CA374034186 | BICD2 | c.2033A>G (p.Lys678Arg) c.2114A>G (p.Lys705Arg) | |
| 9 | g.92718612T>G | CA374034187 | BICD2 | c.2033A>C (p.Lys678Thr) c.2114A>C (p.Lys705Thr) | |
| 9 | g.92718613T>A | CA374034192 | BICD2 | c.2032A>T (p.Lys678Ter) c.2113A>T (p.Lys705Ter) | |
| 9 | g.92718613T>C | CA374034195 | BICD2 | c.2032A>G (p.Lys678Glu) c.2113A>G (p.Lys705Glu) | |
| 9 | g.92718613T>G | CA374034206 | BICD2 | c.2032A>C (p.Lys678Gln) c.2113A>C (p.Lys705Gln) | |
| 9 | g.92718614G>A | CA466342738 | BICD2 | c.2031C>T (p.Leu677=) c.2112C>T (p.Leu704=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718614G>C | CA466342737 | BICD2 | c.2031C>G (p.Leu677=) c.2112C>G (p.Leu704=) | |
| 9 | g.92718614G= | CA1864360536 | BICD2 | c.2031C= (p.Leu677=) c.2112C= (p.Leu704=) | |
| 9 | g.92718614G>T | CA466342736 | BICD2 | c.2031C>A (p.Leu677=) c.2112C>A (p.Leu704=) | |
| 9 | g.92718615A>C | CA374034213 | BICD2 | c.2030T>G (p.Leu677Arg) c.2111T>G (p.Leu704Arg) | |
| 9 | g.92718615A>G | CA374034210 | BICD2 | c.2030T>C (p.Leu677Pro) c.2111T>C (p.Leu704Pro) | |
| 9 | g.92718615A>T | CA374034212 | BICD2 | c.2030T>A (p.Leu677His) c.2111T>A (p.Leu704His) | |
| 9 | g.92718616G>A | CA374034216 | BICD2 | c.2029C>T (p.Leu677Phe) c.2110C>T (p.Leu704Phe) | |
| 9 | g.92718616G>C | CA374034217 | BICD2 | c.2029C>G (p.Leu677Val) c.2110C>G (p.Leu704Val) | |
| 9 | g.92718616G>T | CA374034219 | BICD2 | c.2029C>A (p.Leu677Ile) c.2110C>A (p.Leu704Ile) | |
| 9 | g.92718617G>A | CA5126425 | BICD2 | c.2028C>T (p.Ile676=) c.2109C>T (p.Ile703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92718617G>C | CA374034228 | BICD2 | c.2028C>G (p.Ile676Met) c.2109C>G (p.Ile703Met) | dbSNP gnomAD v4 |
| 9 | g.92718617G= | CA1864360541 | BICD2 | c.2028C= (p.Ile676=) c.2109C= (p.Ile703=) | |
| 9 | g.92718617G>T | CA466342743 | BICD2 | c.2028C>A (p.Ile676=) c.2109C>A (p.Ile703=) | |
| 9 | g.92718618A>C | CA374034231 | BICD2 | c.2027T>G (p.Ile676Ser) c.2108T>G (p.Ile703Ser) | |
| 9 | g.92718618A>G | CA374034233 | BICD2 | c.2027T>C (p.Ile676Thr) c.2108T>C (p.Ile703Thr) | |
| 9 | g.92718618A>T | CA374034236 | BICD2 | c.2027T>A (p.Ile676Asn) c.2108T>A (p.Ile703Asn) | |
| 9 | g.92718619T>A | CA374034239 | BICD2 | c.2026A>T (p.Ile676Phe) c.2107A>T (p.Ile703Phe) | |
| 9 | g.92718619T>C | CA374034245 | BICD2 | c.2026A>G (p.Ile676Val) c.2107A>G (p.Ile703Val) | |
| 9 | g.92718619T>G | CA374034248 | BICD2 | c.2026A>C (p.Ile676Leu) c.2107A>C (p.Ile703Leu) | |
| 9 | g.92718620C>A | CA374034250 | BICD2 | c.2025G>T (p.Glu675Asp) c.2106G>T (p.Glu702Asp) | |
| 9 | g.92718620C>G | CA374034265 | BICD2 | c.2025G>C (p.Glu675Asp) c.2106G>C (p.Glu702Asp) | |
| 9 | g.92718620C>T | CA466342747 | BICD2 | c.2025G>A (p.Glu675=) c.2106G>A (p.Glu702=) | |
| 9 | g.92718621T>A | CA374034272 | BICD2 | c.2024A>T (p.Glu675Val) c.2105A>T (p.Glu702Val) | |
| 9 | g.92718621T>C | CA374034275 | BICD2 | c.2024A>G (p.Glu675Gly) c.2105A>G (p.Glu702Gly) | |
| 9 | g.92718621T>G | CA374034267 | BICD2 | c.2024A>C (p.Glu675Ala) c.2105A>C (p.Glu702Ala) | |
| 9 | g.92718622C>A | CA374034282 | BICD2 | c.2023G>T (p.Glu675Ter) c.2104G>T (p.Glu702Ter) | |
| 9 | g.92718622C>G | CA374034278 | BICD2 | c.2023G>C (p.Glu675Gln) c.2104G>C (p.Glu702Gln) | |
| 9 | g.92718622C>T | CA374034285 | BICD2 | c.2023G>A (p.Glu675Lys) c.2104G>A (p.Glu702Lys) | |
| 9 | g.92718623C>A | CA374034289 | BICD2 | c.2022G>T (p.Glu674Asp) c.2103G>T (p.Glu701Asp) | |
| 9 | g.92718623C= | CA1864360548 | BICD2 | c.2022G= (p.Glu674=) c.2103G= (p.Glu701=) | |
| 9 | g.92718623C>G | CA374034294 | BICD2 | c.2022G>C (p.Glu674Asp) c.2103G>C (p.Glu701Asp) | |
| 9 | g.92718623C>T | CA196339757 | BICD2 | c.2022G>A (p.Glu674=) c.2103G>A (p.Glu701=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718624T>A | CA374034297 | BICD2 | c.2021A>T (p.Glu674Val) c.2102A>T (p.Glu701Val) | |
| 9 | g.92718624T>C | CA5126426 | BICD2 | c.2021A>G (p.Glu674Gly) c.2102A>G (p.Glu701Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718624T>G | CA374034298 | BICD2 | c.2021A>C (p.Glu674Ala) c.2102A>C (p.Glu701Ala) | |
| 9 | g.92718624T= | CA1864360550 | BICD2 | c.2021A= (p.Glu674=) c.2102A= (p.Glu701=) | |
| 9 | g.92718625C>A | CA374034299 | BICD2 | c.2020G>T (p.Glu674Ter) c.2101G>T (p.Glu701Ter) | |
| 9 | g.92718625C>G | CA374034300 | BICD2 | c.2020G>C (p.Glu674Gln) c.2101G>C (p.Glu701Gln) | |
| 9 | g.92718625C>T | CA374034301 | BICD2 | c.2020G>A (p.Glu674Lys) c.2101G>A (p.Glu701Lys) | |
| 9 | g.92718626C>A | CA374034303 | BICD2 | c.2019G>T (p.Met673Ile) c.2100G>T (p.Met700Ile) | |
| 9 | g.92718626C>G | CA374034305 | BICD2 | c.2019G>C (p.Met673Ile) c.2100G>C (p.Met700Ile) | |
| 9 | g.92718626C>T | CA374034324 | BICD2 | c.2019G>A (p.Met673Ile) c.2100G>A (p.Met700Ile) | |
| 9 | g.92718627A>C | CA374034325 | BICD2 | c.2018T>G (p.Met673Arg) c.2099T>G (p.Met700Arg) | |
| 9 | g.92718627A>G | CA374034326 | BICD2 | c.2018T>C (p.Met673Thr) c.2099T>C (p.Met700Thr) | gnomAD v4 |
| 9 | g.92718627A>T | CA374034327 | BICD2 | c.2018T>A (p.Met673Lys) c.2099T>A (p.Met700Lys) | |
| 9 | g.92718628T>A | CA374034338 | BICD2 | c.2017A>T (p.Met673Leu) c.2098A>T (p.Met700Leu) | |
| 9 | g.92718628T>C | CA374034330 | BICD2 | c.2017A>G (p.Met673Val) c.2098A>G (p.Met700Val) | ClinVar |
| 9 | g.92718628T>G | CA374034332 | BICD2 | c.2017A>C (p.Met673Leu) c.2098A>C (p.Met700Leu) | |
| 9 | g.92718629A>C | CA466342752 | BICD2 | c.2016T>G (p.Leu672=) c.2097T>G (p.Leu699=) | |
| 9 | g.92718629A>G | CA466342753 | BICD2 | c.2016T>C (p.Leu672=) c.2097T>C (p.Leu699=) | |
| 9 | g.92718629A>T | CA466342754 | BICD2 | c.2016T>A (p.Leu672=) c.2097T>A (p.Leu699=) | |
| 9 | g.92718630A= | CA1864360554 | BICD2 | c.2015T= (p.Leu672=) c.2096T= (p.Leu699=) | |
| 9 | g.92718630A>C | CA374034339 | BICD2 | c.2015T>G (p.Leu672Arg) c.2096T>G (p.Leu699Arg) | |
| 9 | g.92718630A>G | CA5126427 | BICD2 | c.2015T>C (p.Leu672Pro) c.2096T>C (p.Leu699Pro) | dbSNP ExAC gnomAD v2 |
| 9 | g.92718630A>T | CA374034345 | BICD2 | c.2015T>A (p.Leu672His) c.2096T>A (p.Leu699His) | |
| 9 | g.92718631G>A | CA374034347 | BICD2 | c.2014C>T (p.Leu672Phe) c.2095C>T (p.Leu699Phe) | |
| 9 | g.92718631G>C | CA374034352 | BICD2 | c.2014C>G (p.Leu672Val) c.2095C>G (p.Leu699Val) | |
| 9 | g.92718631G>T | CA374034353 | BICD2 | c.2014C>A (p.Leu672Ile) c.2095C>A (p.Leu699Ile) | |
| 9 | g.92718632C>A | CA466342756 | BICD2 | c.2013G>T (p.Ala671=) c.2094G>T (p.Ala698=) | |
| 9 | g.92718632C= | CA1864360559 | BICD2 | c.2013G= (p.Ala671=) c.2094G= (p.Ala698=) | |
| 9 | g.92718632C>G | CA466342757 | BICD2 | c.2013G>C (p.Ala671=) c.2094G>C (p.Ala698=) | |
| 9 | g.92718632C>T | CA5126428 | BICD2 | c.2013G>A (p.Ala671=) c.2094G>A (p.Ala698=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718633G>A | CA5126429 | BICD2 | c.2012C>T (p.Ala671Val) c.2093C>T (p.Ala698Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718633G>C | CA374034357 | BICD2 | c.2012C>G (p.Ala671Gly) c.2093C>G (p.Ala698Gly) | dbSNP |
| 9 | g.92718633G= | CA1864360569 | BICD2 | c.2012C= (p.Ala671=) c.2093C= (p.Ala698=) | |
| 9 | g.92718633G>T | CA374034368 | BICD2 | c.2012C>A (p.Ala671Glu) c.2093C>A (p.Ala698Glu) | |
| 9 | g.92718634C>A | CA374034374 | BICD2 | c.2011G>T (p.Ala671Ser) c.2092G>T (p.Ala698Ser) | |
| 9 | g.92718634C= | CA1864360573 | BICD2 | c.2011G= (p.Ala671=) c.2092G= (p.Ala698=) | |
| 9 | g.92718634C>G | CA374034372 | BICD2 | c.2011G>C (p.Ala671Pro) c.2092G>C (p.Ala698Pro) | |
| 9 | g.92718634C>T | CA374034370 | BICD2 | c.2011G>A (p.Ala671Thr) c.2092G>A (p.Ala698Thr) | dbSNP |
| 9 | g.92718635T>A | CA374034375 | BICD2 | c.2010A>T (p.Glu670Asp) c.2091A>T (p.Glu697Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718635T>C | CA466342762 | BICD2 | c.2010A>G (p.Glu670=) c.2091A>G (p.Glu697=) | |
| 9 | g.92718635T>G | CA374034390 | BICD2 | c.2010A>C (p.Glu670Asp) c.2091A>C (p.Glu697Asp) | dbSNP gnomAD v4 |
| 9 | g.92718635T= | CA1864360582 | BICD2 | c.2010A= (p.Glu670=) c.2091A= (p.Glu697=) | |
| 9 | g.92718636T>A | CA374034392 | BICD2 | c.2009A>T (p.Glu670Val) c.2090A>T (p.Glu697Val) | |
| 9 | g.92718636T>C | CA374034398 | BICD2 | c.2009A>G (p.Glu670Gly) c.2090A>G (p.Glu697Gly) | |
| 9 | g.92718636T>G | CA374034400 | BICD2 | c.2009A>C (p.Glu670Ala) c.2090A>C (p.Glu697Ala) | |
| 9 | g.92718637C>A | CA374034403 | BICD2 | c.2008G>T (p.Glu670Ter) c.2089G>T (p.Glu697Ter) | |
| 9 | g.92718637C= | CA1864360587 | BICD2 | c.2008G= (p.Glu670=) c.2089G= (p.Glu697=) | |
| 9 | g.92718637C>G | CA374034409 | BICD2 | c.2008G>C (p.Glu670Gln) c.2089G>C (p.Glu697Gln) | |
| 9 | g.92718637C>T | CA196339794 | BICD2 | c.2008G>A (p.Glu670Lys) c.2089G>A (p.Glu697Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718638C>A | CA374034414 | BICD2 | c.2007G>T (p.Lys669Asn) c.2088G>T (p.Lys696Asn) | |
| 9 | g.92718638C>G | CA374034417 | BICD2 | c.2007G>C (p.Lys669Asn) c.2088G>C (p.Lys696Asn) | |
| 9 | g.92718638C>T | CA466342763 | BICD2 | c.2007G>A (p.Lys669=) c.2088G>A (p.Lys696=) | gnomAD v4 |
| 9 | g.92718639T>A | CA374034420 | BICD2 | c.2006A>T (p.Lys669Met) c.2087A>T (p.Lys696Met) | |
| 9 | g.92718639T>C | CA374034432 | BICD2 | c.2006A>G (p.Lys669Arg) c.2087A>G (p.Lys696Arg) | |
| 9 | g.92718639T>G | CA374034444 | BICD2 | c.2006A>C (p.Lys669Thr) c.2087A>C (p.Lys696Thr) | |
| 9 | g.92718640T>A | CA374034446 | BICD2 | c.2005A>T (p.Lys669Ter) c.2086A>T (p.Lys696Ter) | |
| 9 | g.92718640T>C | CA374034448 | BICD2 | c.2005A>G (p.Lys669Glu) c.2086A>G (p.Lys696Glu) | gnomAD v4 |
| 9 | g.92718640T>G | CA5126430 | BICD2 | c.2005A>C (p.Lys669Gln) c.2086A>C (p.Lys696Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718640T= | CA1864360590 | BICD2 | c.2005A= (p.Lys669=) c.2086A= (p.Lys696=) | |
| 9 | g.92718641G>A | CA5126431 | BICD2 | c.2004C>T (p.Asp668=) c.2085C>T (p.Asp695=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718641G>C | CA374034450 | BICD2 | c.2004C>G (p.Asp668Glu) c.2085C>G (p.Asp695Glu) | |
| 9 | g.92718641G= | CA1864360594 | BICD2 | c.2004C= (p.Asp668=) c.2085C= (p.Asp695=) | |
| 9 | g.92718641G>T | CA374034453 | BICD2 | c.2004C>A (p.Asp668Glu) c.2085C>A (p.Asp695Glu) | |
| 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 |