Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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.92718648_92718653dup | CA2832528950 | BICD2 | c.1993_1998dup (p.Asp666_Lys667insValAsp) c.2074_2079dup (p.Asp693_Lys694insValAsp) | |
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 |