Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.108209162C>A | CA388614013 | LIG4 | c.1906G>T (p.Gly636Trp) c.2107G>T (p.Gly703Trp) c.2143G>T (p.Gly715Trp) c.2119G>T (p.Gly707Trp) | |
13 | g.108209162C>G | CA388614014 | LIG4 | c.1906G>C (p.Gly636Arg) c.2107G>C (p.Gly703Arg) c.2143G>C (p.Gly715Arg) c.2119G>C (p.Gly707Arg) | gnomAD v4 |
13 | g.108209162C>T | CA388614015 | LIG4 | c.1906G>A (p.Gly636Arg) c.2107G>A (p.Gly703Arg) c.2143G>A (p.Gly715Arg) c.2119G>A (p.Gly707Arg) | |
13 | g.108209163T>A | CA484975351 | LIG4 | c.1905A>T (p.Ala635=) c.2106A>T (p.Ala702=) c.2142A>T (p.Ala714=) c.2118A>T (p.Ala706=) | |
13 | g.108209163T>C | CA484975353 | LIG4 | c.1905A>G (p.Ala635=) c.2106A>G (p.Ala702=) c.2142A>G (p.Ala714=) c.2118A>G (p.Ala706=) | |
13 | g.108209163T>G | CA484975352 | LIG4 | c.1905A>C (p.Ala635=) c.2106A>C (p.Ala702=) c.2142A>C (p.Ala714=) c.2118A>C (p.Ala706=) | |
13 | g.108209164G>A | CA388614017 | LIG4 | c.1904C>T (p.Ala635Val) c.2105C>T (p.Ala702Val) c.2141C>T (p.Ala714Val) c.2117C>T (p.Ala706Val) | gnomAD v4 |
13 | g.108209164G>C | CA388614018 | LIG4 | c.1904C>G (p.Ala635Gly) c.2105C>G (p.Ala702Gly) c.2141C>G (p.Ala714Gly) c.2117C>G (p.Ala706Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209164G= | CA2117794067 | LIG4 | c.1904C= (p.Ala635=) c.2105C= (p.Ala702=) c.2141C= (p.Ala714=) c.2117C= (p.Ala706=) | |
13 | g.108209164G>T | CA388614016 | LIG4 | c.1904C>A (p.Ala635Glu) c.2105C>A (p.Ala702Glu) c.2141C>A (p.Ala714Glu) c.2117C>A (p.Ala706Glu) | |
13 | g.108209165C>A | CA388614019 | LIG4 | c.1903G>T (p.Ala635Ser) c.2104G>T (p.Ala702Ser) c.2140G>T (p.Ala714Ser) c.2116G>T (p.Ala706Ser) | |
13 | g.108209165C>G | CA388614021 | LIG4 | c.1903G>C (p.Ala635Pro) c.2104G>C (p.Ala702Pro) c.2140G>C (p.Ala714Pro) c.2116G>C (p.Ala706Pro) | |
13 | g.108209165C>T | CA388614022 | LIG4 | c.1903G>A (p.Ala635Thr) c.2104G>A (p.Ala702Thr) c.2140G>A (p.Ala714Thr) c.2116G>A (p.Ala706Thr) | |
13 | g.108209166A= | CA2117794068 | LIG4 | c.1902T= (p.Ile634=) c.2103T= (p.Ile701=) c.2139T= (p.Ile713=) c.2115T= (p.Ile705=) | |
13 | g.108209166A>C | CA388614024 | LIG4 | c.1902T>G (p.Ile634Met) c.2103T>G (p.Ile701Met) c.2139T>G (p.Ile713Met) c.2115T>G (p.Ile705Met) | |
13 | g.108209166A>G | CA484975361 | LIG4 | c.1902T>C (p.Ile634=) c.2103T>C (p.Ile701=) c.2139T>C (p.Ile713=) c.2115T>C (p.Ile705=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209166A>T | CA484975362 | LIG4 | c.1902T>A (p.Ile634=) c.2103T>A (p.Ile701=) c.2139T>A (p.Ile713=) c.2115T>A (p.Ile705=) | |
13 | g.108209167A= | CA2117794069 | LIG4 | c.1901T= (p.Ile634=) c.2102T= (p.Ile701=) c.2138T= (p.Ile713=) c.2114T= (p.Ile705=) | |
13 | g.108209167A>C | CA388614030 | LIG4 | c.1901T>G (p.Ile634Ser) c.2102T>G (p.Ile701Ser) c.2138T>G (p.Ile713Ser) c.2114T>G (p.Ile705Ser) | |
13 | g.108209167A>G | CA388614028 | LIG4 | c.1901T>C (p.Ile634Thr) c.2102T>C (p.Ile701Thr) c.2138T>C (p.Ile713Thr) c.2114T>C (p.Ile705Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209167A>T | CA388614026 | LIG4 | c.1901T>A (p.Ile634Asn) c.2102T>A (p.Ile701Asn) c.2138T>A (p.Ile713Asn) c.2114T>A (p.Ile705Asn) | |
13 | g.108209168T>A | CA388614032 | LIG4 | c.1900A>T (p.Ile634Phe) c.2101A>T (p.Ile701Phe) c.2137A>T (p.Ile713Phe) c.2113A>T (p.Ile705Phe) | |
13 | g.108209168T>C | CA388614034 | LIG4 | c.1900A>G (p.Ile634Val) c.2101A>G (p.Ile701Val) c.2137A>G (p.Ile713Val) c.2113A>G (p.Ile705Val) | gnomAD v4 |
13 | g.108209168T>G | CA388614036 | LIG4 | c.1900A>C (p.Ile634Leu) c.2101A>C (p.Ile701Leu) c.2137A>C (p.Ile713Leu) c.2113A>C (p.Ile705Leu) | dbSNP |
13 | g.108209168T= | CA2117794070 | LIG4 | c.1900A= (p.Ile634=) c.2101A= (p.Ile701=) c.2137A= (p.Ile713=) c.2113A= (p.Ile705=) | |
13 | g.108209168_108209175delinsTTACACAG | CA2117794071 | LIG4 | c.1893_1900delinsCTGTGTAA (p.Tyr631=) c.2094_2101delinsCTGTGTAA (p.Tyr698=) c.2130_2137delinsCTGTGTAA (p.Tyr710=) c.2106_2113delinsCTGTGTAA (p.Tyr702=) | |
13 | g.108209169T>A | CA484975363 | LIG4 | c.1899A>T (p.Val633=) c.2100A>T (p.Val700=) c.2136A>T (p.Val712=) c.2112A>T (p.Val704=) | |
13 | g.108209169T>C | CA484975366 | LIG4 | c.1899A>G (p.Val633=) c.2100A>G (p.Val700=) c.2136A>G (p.Val712=) c.2112A>G (p.Val704=) | |
13 | g.108209169T>G | CA484975368 | LIG4 | c.1899A>C (p.Val633=) c.2100A>C (p.Val700=) c.2136A>C (p.Val712=) c.2112A>C (p.Val704=) | |
13 | g.108209172_108209178del | CA694834317 | LIG4 | c.1893_1899del (p.Tyr631Ter) c.2094_2100del (p.Tyr698Ter) c.2130_2136del (p.Tyr710Ter) c.2106_2112del (p.Tyr702Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209170A>C | CA388614038 | LIG4 | c.1898T>G (p.Val633Gly) c.2099T>G (p.Val700Gly) c.2135T>G (p.Val712Gly) c.2111T>G (p.Val704Gly) | |
13 | g.108209170A>G | CA388614040 | LIG4 | c.1898T>C (p.Val633Ala) c.2099T>C (p.Val700Ala) c.2135T>C (p.Val712Ala) c.2111T>C (p.Val704Ala) | |
13 | g.108209170A>T | CA388614042 | LIG4 | c.1898T>A (p.Val633Glu) c.2099T>A (p.Val700Glu) c.2135T>A (p.Val712Glu) c.2111T>A (p.Val704Glu) | |
13 | g.108209170dup | CA2623644101 | LIG4 | c.1898dup (p.Ile634AsnfsTer5) c.2099dup (p.Ile701AsnfsTer5) c.2135dup (p.Ile713AsnfsTer5) c.2111dup (p.Ile705AsnfsTer5) | gnomAD v4 |
13 | g.108209171C>A | CA388614045 | LIG4 | c.1897G>T (p.Val633Leu) c.2098G>T (p.Val700Leu) c.2134G>T (p.Val712Leu) c.2110G>T (p.Val704Leu) | |
13 | g.108209171C= | CA2117794072 | LIG4 | c.1897G= (p.Val633=) c.2098G= (p.Val700=) c.2134G= (p.Val712=) c.2110G= (p.Val704=) | |
13 | g.108209171C>G | CA388614048 | LIG4 | c.1897G>C (p.Val633Leu) c.2098G>C (p.Val700Leu) c.2134G>C (p.Val712Leu) c.2110G>C (p.Val704Leu) | |
13 | g.108209171C>T | CA388614047 | LIG4 | c.1897G>A (p.Val633Ile) c.2098G>A (p.Val700Ile) c.2134G>A (p.Val712Ile) c.2110G>A (p.Val704Ile) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209172A>C | CA388614050 | LIG4 | c.1896T>G (p.Cys632Trp) c.2097T>G (p.Cys699Trp) c.2133T>G (p.Cys711Trp) c.2109T>G (p.Cys703Trp) | |
13 | g.108209172A>G | CA484975373 | LIG4 | c.1896T>C (p.Cys632=) c.2097T>C (p.Cys699=) c.2133T>C (p.Cys711=) c.2109T>C (p.Cys703=) | |
13 | g.108209172A>T | CA388614052 | LIG4 | c.1896T>A (p.Cys632Ter) c.2097T>A (p.Cys699Ter) c.2133T>A (p.Cys711Ter) c.2109T>A (p.Cys703Ter) | |
13 | g.108209173C>A | CA256180034 | LIG4 | c.1895G>T (p.Cys632Phe) c.2096G>T (p.Cys699Phe) c.2132G>T (p.Cys711Phe) c.2108G>T (p.Cys703Phe) | dbSNP |
13 | g.108209173C= | CA2117794073 | LIG4 | c.1895G= (p.Cys632=) c.2096G= (p.Cys699=) c.2132G= (p.Cys711=) c.2108G= (p.Cys703=) | |
13 | g.108209173C>G | CA388614054 | LIG4 | c.1895G>C (p.Cys632Ser) c.2096G>C (p.Cys699Ser) c.2132G>C (p.Cys711Ser) c.2108G>C (p.Cys703Ser) | |
13 | g.108209173C>T | CA388614055 | LIG4 | c.1895G>A (p.Cys632Tyr) c.2096G>A (p.Cys699Tyr) c.2132G>A (p.Cys711Tyr) c.2108G>A (p.Cys703Tyr) | |
13 | g.108209174A= | CA2117794074 | LIG4 | c.1894T= (p.Cys632=) c.2095T= (p.Cys699=) c.2131T= (p.Cys711=) c.2107T= (p.Cys703=) | |
13 | g.108209174A>C | CA388614056 | LIG4 | c.1894T>G (p.Cys632Gly) c.2095T>G (p.Cys699Gly) c.2131T>G (p.Cys711Gly) c.2107T>G (p.Cys703Gly) | |
13 | g.108209174A>G | CA388614058 | LIG4 | c.1894T>C (p.Cys632Arg) c.2095T>C (p.Cys699Arg) c.2131T>C (p.Cys711Arg) c.2107T>C (p.Cys703Arg) | dbSNP |
13 | g.108209174A>T | CA388614059 | LIG4 | c.1894T>A (p.Cys632Ser) c.2095T>A (p.Cys699Ser) c.2131T>A (p.Cys711Ser) c.2107T>A (p.Cys703Ser) | |
13 | g.108209175G>A | CA484975382 | LIG4 | c.1893C>T (p.Tyr631=) c.2094C>T (p.Tyr698=) c.2130C>T (p.Tyr710=) c.2106C>T (p.Tyr702=) | |
13 | g.108209175G>C | CA7043559 | LIG4 | c.1893C>G (p.Tyr631Ter) c.2094C>G (p.Tyr698Ter) c.2130C>G (p.Tyr710Ter) c.2106C>G (p.Tyr702Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209175G= | CA2117794075 | LIG4 | c.1893C= (p.Tyr631=) c.2094C= (p.Tyr698=) c.2130C= (p.Tyr710=) c.2106C= (p.Tyr702=) | |
13 | g.108209175G>T | CA388614063 | LIG4 | c.1893C>A (p.Tyr631Ter) c.2094C>A (p.Tyr698Ter) c.2130C>A (p.Tyr710Ter) c.2106C>A (p.Tyr702Ter) | |
13 | g.108209176T>A | CA388614064 | LIG4 | c.1892A>T (p.Tyr631Phe) c.2093A>T (p.Tyr698Phe) c.2129A>T (p.Tyr710Phe) c.2105A>T (p.Tyr702Phe) | |
13 | g.108209176T>C | CA388614066 | LIG4 | c.1892A>G (p.Tyr631Cys) c.2093A>G (p.Tyr698Cys) c.2129A>G (p.Tyr710Cys) c.2105A>G (p.Tyr702Cys) | gnomAD v4 |
13 | g.108209176T>G | CA388614067 | LIG4 | c.1892A>C (p.Tyr631Ser) c.2093A>C (p.Tyr698Ser) c.2129A>C (p.Tyr710Ser) c.2105A>C (p.Tyr702Ser) | |
13 | g.108209177A>C | CA388614071 | LIG4 | c.1891T>G (p.Tyr631Asp) c.2092T>G (p.Tyr698Asp) c.2128T>G (p.Tyr710Asp) c.2104T>G (p.Tyr702Asp) | gnomAD v4 |
13 | g.108209177A>G | CA388614069 | LIG4 | c.1891T>C (p.Tyr631His) c.2092T>C (p.Tyr698His) c.2128T>C (p.Tyr710His) c.2104T>C (p.Tyr702His) | |
13 | g.108209177A>T | CA388614068 | LIG4 | c.1891T>A (p.Tyr631Asn) c.2092T>A (p.Tyr698Asn) c.2128T>A (p.Tyr710Asn) c.2104T>A (p.Tyr702Asn) | |
13 | g.108209178C>A | CA484975391 | LIG4 | c.1890G>T (p.Thr630=) c.2091G>T (p.Thr697=) c.2127G>T (p.Thr709=) c.2103G>T (p.Thr701=) | gnomAD v4 |
13 | g.108209178C= | CA2117794076 | LIG4 | c.1890G= (p.Thr630=) c.2091G= (p.Thr697=) c.2127G= (p.Thr709=) c.2103G= (p.Thr701=) | |
13 | g.108209178C>G | CA484975393 | LIG4 | c.1890G>C (p.Thr630=) c.2091G>C (p.Thr697=) c.2127G>C (p.Thr709=) c.2103G>C (p.Thr701=) | gnomAD v4 |
13 | g.108209178C>T | CA7043560 | LIG4 | c.1890G>A (p.Thr630=) c.2091G>A (p.Thr697=) c.2127G>A (p.Thr709=) c.2103G>A (p.Thr701=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209179G>A | CA388614074 | LIG4 | c.1889C>T (p.Thr630Met) c.2090C>T (p.Thr697Met) c.2126C>T (p.Thr709Met) c.2102C>T (p.Thr701Met) | gnomAD v4 COSMIC |
13 | g.108209179G>C | CA388614075 | LIG4 | c.1889C>G (p.Thr630Arg) c.2090C>G (p.Thr697Arg) c.2126C>G (p.Thr709Arg) c.2102C>G (p.Thr701Arg) | |
13 | g.108209179G>T | CA388614077 | LIG4 | c.1889C>A (p.Thr630Lys) c.2090C>A (p.Thr697Lys) c.2126C>A (p.Thr709Lys) c.2102C>A (p.Thr701Lys) | |
13 | g.108209180T>A | CA388614078 | LIG4 | c.1888A>T (p.Thr630Ser) c.2089A>T (p.Thr697Ser) c.2125A>T (p.Thr709Ser) c.2101A>T (p.Thr701Ser) | |
13 | g.108209180T>C | CA388614080 | LIG4 | c.1888A>G (p.Thr630Ala) c.2089A>G (p.Thr697Ala) c.2125A>G (p.Thr709Ala) c.2101A>G (p.Thr701Ala) | |
13 | g.108209180T>G | CA388614081 | LIG4 | c.1888A>C (p.Thr630Pro) c.2089A>C (p.Thr697Pro) c.2125A>C (p.Thr709Pro) c.2101A>C (p.Thr701Pro) | |
13 | g.108209181G>A | CA484975398 | LIG4 | c.1887C>T (p.Asp629=) c.2088C>T (p.Asp696=) c.2124C>T (p.Asp708=) c.2100C>T (p.Asp700=) | |
13 | g.108209181G>C | CA388614084 | LIG4 | c.1887C>G (p.Asp629Glu) c.2088C>G (p.Asp696Glu) c.2124C>G (p.Asp708Glu) c.2100C>G (p.Asp700Glu) | |
13 | g.108209181G>T | CA388614085 | LIG4 | c.1887C>A (p.Asp629Glu) c.2088C>A (p.Asp696Glu) c.2124C>A (p.Asp708Glu) c.2100C>A (p.Asp700Glu) | |
13 | g.108209182T>A | CA388614087 | LIG4 | c.1886A>T (p.Asp629Val) c.2087A>T (p.Asp696Val) c.2123A>T (p.Asp708Val) c.2099A>T (p.Asp700Val) | |
13 | g.108209182T>C | CA7043561 | LIG4 | c.1886A>G (p.Asp629Gly) c.2087A>G (p.Asp696Gly) c.2123A>G (p.Asp708Gly) c.2099A>G (p.Asp700Gly) | dbSNP ExAC gnomAD v2 |
13 | g.108209182T>G | CA388614090 | LIG4 | c.1886A>C (p.Asp629Ala) c.2087A>C (p.Asp696Ala) c.2123A>C (p.Asp708Ala) c.2099A>C (p.Asp700Ala) | |
13 | g.108209182T= | CA2117794077 | LIG4 | c.1886A= (p.Asp629=) c.2087A= (p.Asp696=) c.2123A= (p.Asp708=) c.2099A= (p.Asp700=) | |
13 | g.108209183C>A | CA388614095 | LIG4 | c.1885G>T (p.Asp629Tyr) c.2086G>T (p.Asp696Tyr) c.2122G>T (p.Asp708Tyr) c.2098G>T (p.Asp700Tyr) | |
13 | g.108209183C>G | CA388614097 | LIG4 | c.1885G>C (p.Asp629His) c.2086G>C (p.Asp696His) c.2122G>C (p.Asp708His) c.2098G>C (p.Asp700His) | COSMIC |
13 | g.108209183C>T | CA388614093 | LIG4 | c.1885G>A (p.Asp629Asn) c.2086G>A (p.Asp696Asn) c.2122G>A (p.Asp708Asn) c.2098G>A (p.Asp700Asn) | |
13 | g.108209184T>A | CA484975404 | LIG4 | c.1884A>T (p.Pro628=) c.2085A>T (p.Pro695=) c.2121A>T (p.Pro707=) c.2097A>T (p.Pro699=) | |
13 | g.108209184T>C | CA484975405 | LIG4 | c.1884A>G (p.Pro628=) c.2085A>G (p.Pro695=) c.2121A>G (p.Pro707=) c.2097A>G (p.Pro699=) | |
13 | g.108209184T>G | CA484975406 | LIG4 | c.1884A>C (p.Pro628=) c.2085A>C (p.Pro695=) c.2121A>C (p.Pro707=) c.2097A>C (p.Pro699=) | |
13 | g.108209184_108209185delinsTG | CA2117794078 | LIG4 | c.1883_1884delinsCA (p.Pro628=) c.2084_2085delinsCA (p.Pro695=) c.2120_2121delinsCA (p.Pro707=) c.2096_2097delinsCA (p.Pro699=) | |
13 | g.108209185G>A | CA388614098 | LIG4 | c.1883C>T (p.Pro628Leu) c.2084C>T (p.Pro695Leu) c.2120C>T (p.Pro707Leu) c.2096C>T (p.Pro699Leu) | |
13 | g.108209185G>C | CA388614099 | LIG4 | c.1883C>G (p.Pro628Arg) c.2084C>G (p.Pro695Arg) c.2120C>G (p.Pro707Arg) c.2096C>G (p.Pro699Arg) | |
13 | g.108209185G>T | CA388614100 | LIG4 | c.1883C>A (p.Pro628Gln) c.2084C>A (p.Pro695Gln) c.2120C>A (p.Pro707Gln) c.2096C>A (p.Pro699Gln) | |
13 | g.108209187del | CA612360450 | LIG4 | c.1883del (p.Pro628GlnfsTer6) c.2084del (p.Pro695GlnfsTer6) c.2120del (p.Pro707GlnfsTer6) c.2096del (p.Pro699GlnfsTer6) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209186G>A | CA388614101 | LIG4 | c.1882C>T (p.Pro628Ser) c.2083C>T (p.Pro695Ser) c.2119C>T (p.Pro707Ser) c.2095C>T (p.Pro699Ser) | |
13 | g.108209186G>C | CA388614102 | LIG4 | c.1882C>G (p.Pro628Ala) c.2083C>G (p.Pro695Ala) c.2119C>G (p.Pro707Ala) c.2095C>G (p.Pro699Ala) | |
13 | g.108209186G>T | CA388614103 | LIG4 | c.1882C>A (p.Pro628Thr) c.2083C>A (p.Pro695Thr) c.2119C>A (p.Pro707Thr) c.2095C>A (p.Pro699Thr) | |
13 | g.108209187G>A | CA484975411 | LIG4 | c.1881C>T (p.Gly627=) c.2082C>T (p.Gly694=) c.2118C>T (p.Gly706=) c.2094C>T (p.Gly698=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209187G>C | CA484975412 | LIG4 | c.1881C>G (p.Gly627=) c.2082C>G (p.Gly694=) c.2118C>G (p.Gly706=) c.2094C>G (p.Gly698=) | |
13 | g.108209187G= | CA2117794079 | LIG4 | c.1881C= (p.Gly627=) c.2082C= (p.Gly694=) c.2118C= (p.Gly706=) c.2094C= (p.Gly698=) | |
13 | g.108209187G>T | CA484975413 | LIG4 | c.1881C>A (p.Gly627=) c.2082C>A (p.Gly694=) c.2118C>A (p.Gly706=) c.2094C>A (p.Gly698=) | |
13 | g.108209188C>A | CA388614104 | LIG4 | c.1880G>T (p.Gly627Val) c.2081G>T (p.Gly694Val) c.2117G>T (p.Gly706Val) c.2093G>T (p.Gly698Val) | |
13 | g.108209188C>G | CA388614106 | LIG4 | c.1880G>C (p.Gly627Ala) c.2081G>C (p.Gly694Ala) c.2117G>C (p.Gly706Ala) c.2093G>C (p.Gly698Ala) | |
13 | g.108209188C>T | CA388614107 | LIG4 | c.1880G>A (p.Gly627Asp) c.2081G>A (p.Gly694Asp) c.2117G>A (p.Gly706Asp) c.2093G>A (p.Gly698Asp) | |
13 | g.108209189C>A | CA388614109 | LIG4 | c.1879G>T (p.Gly627Cys) c.2080G>T (p.Gly694Cys) c.2116G>T (p.Gly706Cys) c.2092G>T (p.Gly698Cys) | |
13 | g.108209189C>G | CA388614110 | LIG4 | c.1879G>C (p.Gly627Arg) c.2080G>C (p.Gly694Arg) c.2116G>C (p.Gly706Arg) c.2092G>C (p.Gly698Arg) | |
13 | g.108209189C>T | CA388614112 | LIG4 | c.1879G>A (p.Gly627Ser) c.2080G>A (p.Gly694Ser) c.2116G>A (p.Gly706Ser) c.2092G>A (p.Gly698Ser) | |
13 | g.108209190T>A | CA484975420 | LIG4 | c.1878A>T (p.Pro626=) c.2079A>T (p.Pro693=) c.2115A>T (p.Pro705=) c.2091A>T (p.Pro697=) | |
13 | g.108209190T>C | CA484975423 | LIG4 | c.1878A>G (p.Pro626=) c.2079A>G (p.Pro693=) c.2115A>G (p.Pro705=) c.2091A>G (p.Pro697=) | |
13 | g.108209190T>G | CA484975424 | LIG4 | c.1878A>C (p.Pro626=) c.2079A>C (p.Pro693=) c.2115A>C (p.Pro705=) c.2091A>C (p.Pro697=) | |
13 | g.108209191G>A | CA256180099 | LIG4 | c.1877C>T (p.Pro626Leu) c.2078C>T (p.Pro693Leu) c.2114C>T (p.Pro705Leu) c.2090C>T (p.Pro697Leu) | dbSNP |
13 | g.108209191G>C | CA388614116 | LIG4 | c.1877C>G (p.Pro626Arg) c.2078C>G (p.Pro693Arg) c.2114C>G (p.Pro705Arg) c.2090C>G (p.Pro697Arg) | |
13 | g.108209191G= | CA2117794080 | LIG4 | c.1877C= (p.Pro626=) c.2078C= (p.Pro693=) c.2114C= (p.Pro705=) c.2090C= (p.Pro697=) | |
13 | g.108209191G>T | CA388614114 | LIG4 | c.1877C>A (p.Pro626Gln) c.2078C>A (p.Pro693Gln) c.2114C>A (p.Pro705Gln) c.2090C>A (p.Pro697Gln) | |
13 | g.108209192G>A | CA388614118 | LIG4 | c.1876C>T (p.Pro626Ser) c.2077C>T (p.Pro693Ser) c.2113C>T (p.Pro705Ser) c.2089C>T (p.Pro697Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209192G>C | CA388614119 | LIG4 | c.1876C>G (p.Pro626Ala) c.2077C>G (p.Pro693Ala) c.2113C>G (p.Pro705Ala) c.2089C>G (p.Pro697Ala) | gnomAD v4 |
13 | g.108209192G= | CA2117794081 | LIG4 | c.1876C= (p.Pro626=) c.2077C= (p.Pro693=) c.2113C= (p.Pro705=) c.2089C= (p.Pro697=) | |
13 | g.108209192G>T | CA388614120 | LIG4 | c.1876C>A (p.Pro626Thr) c.2077C>A (p.Pro693Thr) c.2113C>A (p.Pro705Thr) c.2089C>A (p.Pro697Thr) | |
13 | g.108209193A>C | CA388614121 | LIG4 | c.1875T>G (p.Asn625Lys) c.2076T>G (p.Asn692Lys) c.2112T>G (p.Asn704Lys) c.2088T>G (p.Asn696Lys) | |
13 | g.108209193A>G | CA484975428 | LIG4 | c.1875T>C (p.Asn625=) c.2076T>C (p.Asn692=) c.2112T>C (p.Asn704=) c.2088T>C (p.Asn696=) | |
13 | g.108209193A>T | CA388614122 | LIG4 | c.1875T>A (p.Asn625Lys) c.2076T>A (p.Asn692Lys) c.2112T>A (p.Asn704Lys) c.2088T>A (p.Asn696Lys) | |
13 | g.108209194T>A | CA388614125 | LIG4 | c.1874A>T (p.Asn625Ile) c.2075A>T (p.Asn692Ile) c.2111A>T (p.Asn704Ile) c.2087A>T (p.Asn696Ile) | |
13 | g.108209194T>C | CA388614123 | LIG4 | c.1874A>G (p.Asn625Ser) c.2075A>G (p.Asn692Ser) c.2111A>G (p.Asn704Ser) c.2087A>G (p.Asn696Ser) | |
13 | g.108209194T>G | CA388614124 | LIG4 | c.1874A>C (p.Asn625Thr) c.2075A>C (p.Asn692Thr) c.2111A>C (p.Asn704Thr) c.2087A>C (p.Asn696Thr) | |
13 | g.108209195T>A | CA388614128 | LIG4 | c.1873A>T (p.Asn625Tyr) c.2074A>T (p.Asn692Tyr) c.2110A>T (p.Asn704Tyr) c.2086A>T (p.Asn696Tyr) | |
13 | g.108209195T>C | CA388614130 | LIG4 | c.1873A>G (p.Asn625Asp) c.2074A>G (p.Asn692Asp) c.2110A>G (p.Asn704Asp) c.2086A>G (p.Asn696Asp) | |
13 | g.108209195T>G | CA388614132 | LIG4 | c.1873A>C (p.Asn625His) c.2074A>C (p.Asn692His) c.2110A>C (p.Asn704His) c.2086A>C (p.Asn696His) | |
13 | g.108209196T>A | CA388614136 | LIG4 | c.1872A>T (p.Gln624His) c.2073A>T (p.Gln691His) c.2109A>T (p.Gln703His) c.2085A>T (p.Gln695His) | |
13 | g.108209196T>C | CA484975432 | LIG4 | c.1872A>G (p.Gln624=) c.2073A>G (p.Gln691=) c.2109A>G (p.Gln703=) c.2085A>G (p.Gln695=) | |
13 | g.108209196T>G | CA388614139 | LIG4 | c.1872A>C (p.Gln624His) c.2073A>C (p.Gln691His) c.2109A>C (p.Gln703His) c.2085A>C (p.Gln695His) | |
13 | g.108209197T>A | CA388614144 | LIG4 | c.1871A>T (p.Gln624Leu) c.2072A>T (p.Gln691Leu) c.2108A>T (p.Gln703Leu) c.2084A>T (p.Gln695Leu) | |
13 | g.108209197T>C | CA256180106 | LIG4 | c.1871A>G (p.Gln624Arg) c.2072A>G (p.Gln691Arg) c.2108A>G (p.Gln703Arg) c.2084A>G (p.Gln695Arg) | dbSNP |
13 | g.108209197T>G | CA388614142 | LIG4 | c.1871A>C (p.Gln624Pro) c.2072A>C (p.Gln691Pro) c.2108A>C (p.Gln703Pro) c.2084A>C (p.Gln695Pro) | |
13 | g.108209197T= | CA2117794082 | LIG4 | c.1871A= (p.Gln624=) c.2072A= (p.Gln691=) c.2108A= (p.Gln703=) c.2084A= (p.Gln695=) | |
13 | g.108209198G>A | CA388614145 | LIG4 | c.1870C>T (p.Gln624Ter) c.2071C>T (p.Gln691Ter) c.2107C>T (p.Gln703Ter) c.2083C>T (p.Gln695Ter) | |
13 | g.108209198G>C | CA388614149 | LIG4 | c.1870C>G (p.Gln624Glu) c.2071C>G (p.Gln691Glu) c.2107C>G (p.Gln703Glu) c.2083C>G (p.Gln695Glu) | |
13 | g.108209198G>T | CA388614147 | LIG4 | c.1870C>A (p.Gln624Lys) c.2071C>A (p.Gln691Lys) c.2107C>A (p.Gln703Lys) c.2083C>A (p.Gln695Lys) | |
13 | g.108209199T>A | CA484975437 | LIG4 | c.1869A>T (p.Val623=) c.2070A>T (p.Val690=) c.2106A>T (p.Val702=) c.2082A>T (p.Val694=) | |
13 | g.108209199T>C | CA484975438 | LIG4 | c.1869A>G (p.Val623=) c.2070A>G (p.Val690=) c.2106A>G (p.Val702=) c.2082A>G (p.Val694=) | |
13 | g.108209199T>G | CA484975439 | LIG4 | c.1869A>C (p.Val623=) c.2070A>C (p.Val690=) c.2106A>C (p.Val702=) c.2082A>C (p.Val694=) | |
13 | g.108209200A>C | CA388614150 | LIG4 | c.1868T>G (p.Val623Gly) c.2069T>G (p.Val690Gly) c.2105T>G (p.Val702Gly) c.2081T>G (p.Val694Gly) | |
13 | g.108209200A>G | CA388614154 | LIG4 | c.1868T>C (p.Val623Ala) c.2069T>C (p.Val690Ala) c.2105T>C (p.Val702Ala) c.2081T>C (p.Val694Ala) | |
13 | g.108209200A>T | CA388614152 | LIG4 | c.1868T>A (p.Val623Glu) c.2069T>A (p.Val690Glu) c.2105T>A (p.Val702Glu) c.2081T>A (p.Val694Glu) | |
13 | g.108209201C>A | CA388614155 | LIG4 | c.1867G>T (p.Val623Leu) c.2068G>T (p.Val690Leu) c.2104G>T (p.Val702Leu) c.2080G>T (p.Val694Leu) | gnomAD v4 |
13 | g.108209201C= | CA2117794083 | LIG4 | c.1867G= (p.Val623=) c.2068G= (p.Val690=) c.2104G= (p.Val702=) c.2080G= (p.Val694=) | |
13 | g.108209201C>G | CA388614159 | LIG4 | c.1867G>C (p.Val623Leu) c.2068G>C (p.Val690Leu) c.2104G>C (p.Val702Leu) c.2080G>C (p.Val694Leu) | |
13 | g.108209201C>T | CA388614157 | LIG4 | c.1867G>A (p.Val623Ile) c.2068G>A (p.Val690Ile) c.2104G>A (p.Val702Ile) c.2080G>A (p.Val694Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209202T>A | CA484975441 | LIG4 | c.1866A>T (p.Ile622=) c.2067A>T (p.Ile689=) c.2103A>T (p.Ile701=) c.2079A>T (p.Ile693=) | ClinVar |
13 | g.108209202T>C | CA256180112 | LIG4 | c.1866A>G (p.Ile622Met) c.2067A>G (p.Ile689Met) c.2103A>G (p.Ile701Met) c.2079A>G (p.Ile693Met) | dbSNP |
13 | g.108209202T>G | CA484975443 | LIG4 | c.1866A>C (p.Ile622=) c.2067A>C (p.Ile689=) c.2103A>C (p.Ile701=) c.2079A>C (p.Ile693=) | |
13 | g.108209202T= | CA2117794084 | LIG4 | c.1866A= (p.Ile622=) c.2067A= (p.Ile689=) c.2103A= (p.Ile701=) c.2079A= (p.Ile693=) | |
13 | g.108209203A= | CA2117794085 | LIG4 | c.1865T= (p.Ile622=) c.2066T= (p.Ile689=) c.2102T= (p.Ile701=) c.2078T= (p.Ile693=) | |
13 | g.108209203A>C | CA388614161 | LIG4 | c.1865T>G (p.Ile622Arg) c.2066T>G (p.Ile689Arg) c.2102T>G (p.Ile701Arg) c.2078T>G (p.Ile693Arg) | |
13 | g.108209203A>G | CA7043562 | LIG4 | c.1865T>C (p.Ile622Thr) c.2066T>C (p.Ile689Thr) c.2102T>C (p.Ile701Thr) c.2078T>C (p.Ile693Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209203A>T | CA388614164 | LIG4 | c.1865T>A (p.Ile622Lys) c.2066T>A (p.Ile689Lys) c.2102T>A (p.Ile701Lys) c.2078T>A (p.Ile693Lys) | |
13 | g.108209204T>A | CA388614167 | LIG4 | c.1864A>T (p.Ile622Leu) c.2065A>T (p.Ile689Leu) c.2101A>T (p.Ile701Leu) c.2077A>T (p.Ile693Leu) | |
13 | g.108209204T>C | CA388614171 | LIG4 | c.1864A>G (p.Ile622Val) c.2065A>G (p.Ile689Val) c.2101A>G (p.Ile701Val) c.2077A>G (p.Ile693Val) | dbSNP gnomAD v4 |
13 | g.108209204T>G | CA388614174 | LIG4 | c.1864A>C (p.Ile622Leu) c.2065A>C (p.Ile689Leu) c.2101A>C (p.Ile701Leu) c.2077A>C (p.Ile693Leu) | |
13 | g.108209204T= | CA2117794086 | LIG4 | c.1864A= (p.Ile622=) c.2065A= (p.Ile689=) c.2101A= (p.Ile701=) c.2077A= (p.Ile693=) | |
13 | g.108209205A= | CA2117794087 | LIG4 | c.1863T= (p.Tyr621=) c.2064T= (p.Tyr688=) c.2100T= (p.Tyr700=) c.2076T= (p.Tyr692=) | |
13 | g.108209205A>C | CA388614176 | LIG4 | c.1863T>G (p.Tyr621Ter) c.2064T>G (p.Tyr688Ter) c.2100T>G (p.Tyr700Ter) c.2076T>G (p.Tyr692Ter) | |
13 | g.108209205A>G | CA484975452 | LIG4 | c.1863T>C (p.Tyr621=) c.2064T>C (p.Tyr688=) c.2100T>C (p.Tyr700=) c.2076T>C (p.Tyr692=) | dbSNP |
13 | g.108209205A>T | CA388614179 | LIG4 | c.1863T>A (p.Tyr621Ter) c.2064T>A (p.Tyr688Ter) c.2100T>A (p.Tyr700Ter) c.2076T>A (p.Tyr692Ter) | |
13 | g.108209206T>A | CA388614183 | LIG4 | c.1862A>T (p.Tyr621Phe) c.2063A>T (p.Tyr688Phe) c.2099A>T (p.Tyr700Phe) c.2075A>T (p.Tyr692Phe) | |
13 | g.108209206T>C | CA388614185 | LIG4 | c.1862A>G (p.Tyr621Cys) c.2063A>G (p.Tyr688Cys) c.2099A>G (p.Tyr700Cys) c.2075A>G (p.Tyr692Cys) | gnomAD v4 |
13 | g.108209206T>G | CA388614186 | LIG4 | c.1862A>C (p.Tyr621Ser) c.2063A>C (p.Tyr688Ser) c.2099A>C (p.Tyr700Ser) c.2075A>C (p.Tyr692Ser) | |
13 | g.108209207A= | CA2117794088 | LIG4 | c.1861T= (p.Tyr621=) c.2062T= (p.Tyr688=) c.2098T= (p.Tyr700=) c.2074T= (p.Tyr692=) | |
13 | g.108209207A>C | CA388614189 | LIG4 | c.1861T>G (p.Tyr621Asp) c.2062T>G (p.Tyr688Asp) c.2098T>G (p.Tyr700Asp) c.2074T>G (p.Tyr692Asp) | |
13 | g.108209207A>G | CA388614194 | LIG4 | c.1861T>C (p.Tyr621His) c.2062T>C (p.Tyr688His) c.2098T>C (p.Tyr700His) c.2074T>C (p.Tyr692His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209207A>T | CA388614192 | LIG4 | c.1861T>A (p.Tyr621Asn) c.2062T>A (p.Tyr688Asn) c.2098T>A (p.Tyr700Asn) c.2074T>A (p.Tyr692Asn) | |
13 | g.108209208A>C | CA484975458 | LIG4 | c.1860T>G (p.Gly620=) c.2061T>G (p.Gly687=) c.2097T>G (p.Gly699=) c.2073T>G (p.Gly691=) | COSMIC |
13 | g.108209208A>G | CA484975459 | LIG4 | c.1860T>C (p.Gly620=) c.2061T>C (p.Gly687=) c.2097T>C (p.Gly699=) c.2073T>C (p.Gly691=) | |
13 | g.108209208A>T | CA484975461 | LIG4 | c.1860T>A (p.Gly620=) c.2061T>A (p.Gly687=) c.2097T>A (p.Gly699=) c.2073T>A (p.Gly691=) | |
13 | g.108209209C>A | CA388614196 | LIG4 | c.1859G>T (p.Gly620Val) c.2060G>T (p.Gly687Val) c.2096G>T (p.Gly699Val) c.2072G>T (p.Gly691Val) | gnomAD v4 |
13 | g.108209209C= | CA2117794089 | LIG4 | c.1859G= (p.Gly620=) c.2060G= (p.Gly687=) c.2096G= (p.Gly699=) c.2072G= (p.Gly691=) | |
13 | g.108209209C>G | CA388614198 | LIG4 | c.1859G>C (p.Gly620Ala) c.2060G>C (p.Gly687Ala) c.2096G>C (p.Gly699Ala) c.2072G>C (p.Gly691Ala) | dbSNP |
13 | g.108209209C>T | CA388614201 | LIG4 | c.1859G>A (p.Gly620Asp) c.2060G>A (p.Gly687Asp) c.2096G>A (p.Gly699Asp) c.2072G>A (p.Gly691Asp) | |
13 | g.108209210C>A | CA388614205 | LIG4 | c.1858G>T (p.Gly620Cys) c.2059G>T (p.Gly687Cys) c.2095G>T (p.Gly699Cys) c.2071G>T (p.Gly691Cys) | dbSNP COSMIC |
13 | g.108209210C= | CA2117794090 | LIG4 | c.1858G= (p.Gly620=) c.2059G= (p.Gly687=) c.2095G= (p.Gly699=) c.2071G= (p.Gly691=) | |
13 | g.108209210C>G | CA388614208 | LIG4 | c.1858G>C (p.Gly620Arg) c.2059G>C (p.Gly687Arg) c.2095G>C (p.Gly699Arg) c.2071G>C (p.Gly691Arg) | |
13 | g.108209210C>T | CA388614210 | LIG4 | c.1858G>A (p.Gly620Ser) c.2059G>A (p.Gly687Ser) c.2095G>A (p.Gly699Ser) c.2071G>A (p.Gly691Ser) | ClinVar gnomAD v4 |
13 | g.108209211A>C | CA484975462 | LIG4 | c.1857T>G (p.Gly619=) c.2058T>G (p.Gly686=) c.2094T>G (p.Gly698=) c.2070T>G (p.Gly690=) | |
13 | g.108209211A>G | CA484975463 | LIG4 | c.1857T>C (p.Gly619=) c.2058T>C (p.Gly686=) c.2094T>C (p.Gly698=) c.2070T>C (p.Gly690=) | |
13 | g.108209211A>T | CA484975464 | LIG4 | c.1857T>A (p.Gly619=) c.2058T>A (p.Gly686=) c.2094T>A (p.Gly698=) c.2070T>A (p.Gly690=) | |
13 | g.108209212C>A | CA388614211 | LIG4 | c.1856G>T (p.Gly619Val) c.2057G>T (p.Gly686Val) c.2093G>T (p.Gly698Val) c.2069G>T (p.Gly690Val) | |
13 | g.108209212C>G | CA388614213 | LIG4 | c.1856G>C (p.Gly619Ala) c.2057G>C (p.Gly686Ala) c.2093G>C (p.Gly698Ala) c.2069G>C (p.Gly690Ala) | |
13 | g.108209212C>T | CA388614216 | LIG4 | c.1856G>A (p.Gly619Asp) c.2057G>A (p.Gly686Asp) c.2093G>A (p.Gly698Asp) c.2069G>A (p.Gly690Asp) | |
13 | g.108209213C>A | CA388614218 | LIG4 | c.1855G>T (p.Gly619Cys) c.2056G>T (p.Gly686Cys) c.2092G>T (p.Gly698Cys) c.2068G>T (p.Gly690Cys) | |
13 | g.108209213C= | CA2117794091 | LIG4 | c.1855G= (p.Gly619=) c.2056G= (p.Gly686=) c.2092G= (p.Gly698=) c.2068G= (p.Gly690=) | |
13 | g.108209213C>G | CA388614219 | LIG4 | c.1855G>C (p.Gly619Arg) c.2056G>C (p.Gly686Arg) c.2092G>C (p.Gly698Arg) c.2068G>C (p.Gly690Arg) | |
13 | g.108209213C>T | CA388614217 | LIG4 | c.1855G>A (p.Gly619Ser) c.2056G>A (p.Gly686Ser) c.2092G>A (p.Gly698Ser) c.2068G>A (p.Gly690Ser) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209214A>C | CA388614222 | LIG4 | c.1854T>G (p.Phe618Leu) c.2055T>G (p.Phe685Leu) c.2091T>G (p.Phe697Leu) c.2067T>G (p.Phe689Leu) | |
13 | g.108209214A>G | CA484975472 | LIG4 | c.1854T>C (p.Phe618=) c.2055T>C (p.Phe685=) c.2091T>C (p.Phe697=) c.2067T>C (p.Phe689=) | |
13 | g.108209214A>T | CA388614225 | LIG4 | c.1854T>A (p.Phe618Leu) c.2055T>A (p.Phe685Leu) c.2091T>A (p.Phe697Leu) c.2067T>A (p.Phe689Leu) | |
13 | g.108209215A>C | CA388614227 | LIG4 | c.1853T>G (p.Phe618Cys) c.2054T>G (p.Phe685Cys) c.2090T>G (p.Phe697Cys) c.2066T>G (p.Phe689Cys) | |
13 | g.108209215A>G | CA388614228 | LIG4 | c.1853T>C (p.Phe618Ser) c.2054T>C (p.Phe685Ser) c.2090T>C (p.Phe697Ser) c.2066T>C (p.Phe689Ser) | |
13 | g.108209215A>T | CA388614230 | LIG4 | c.1853T>A (p.Phe618Tyr) c.2054T>A (p.Phe685Tyr) c.2090T>A (p.Phe697Tyr) c.2066T>A (p.Phe689Tyr) | |
13 | g.108209216A>C | CA388614232 | LIG4 | c.1852T>G (p.Phe618Val) c.2053T>G (p.Phe685Val) c.2089T>G (p.Phe697Val) c.2065T>G (p.Phe689Val) | |
13 | g.108209216A>G | CA388614235 | LIG4 | c.1852T>C (p.Phe618Leu) c.2053T>C (p.Phe685Leu) c.2089T>C (p.Phe697Leu) c.2065T>C (p.Phe689Leu) | |
13 | g.108209216A>T | CA388614237 | LIG4 | c.1852T>A (p.Phe618Ile) c.2053T>A (p.Phe685Ile) c.2089T>A (p.Phe697Ile) c.2065T>A (p.Phe689Ile) | |
13 | g.108209217T>A | CA388614239 | LIG4 | c.1851A>T (p.Glu617Asp) c.2052A>T (p.Glu684Asp) c.2088A>T (p.Glu696Asp) c.2064A>T (p.Glu688Asp) | |
13 | g.108209217T>C | CA484975479 | LIG4 | c.1851A>G (p.Glu617=) c.2052A>G (p.Glu684=) c.2088A>G (p.Glu696=) c.2064A>G (p.Glu688=) | |
13 | g.108209217T>G | CA388614241 | LIG4 | c.1851A>C (p.Glu617Asp) c.2052A>C (p.Glu684Asp) c.2088A>C (p.Glu696Asp) c.2064A>C (p.Glu688Asp) | |
13 | g.108209218T>A | CA388614244 | LIG4 | c.1850A>T (p.Glu617Val) c.2051A>T (p.Glu684Val) c.2087A>T (p.Glu696Val) c.2063A>T (p.Glu688Val) | |
13 | g.108209218T>C | CA388614246 | LIG4 | c.1850A>G (p.Glu617Gly) c.2051A>G (p.Glu684Gly) c.2087A>G (p.Glu696Gly) c.2063A>G (p.Glu688Gly) | |
13 | g.108209218T>G | CA388614249 | LIG4 | c.1850A>C (p.Glu617Ala) c.2051A>C (p.Glu684Ala) c.2087A>C (p.Glu696Ala) c.2063A>C (p.Glu688Ala) | gnomAD v4 |
13 | g.108209219C>A | CA388614259 | LIG4 | c.1849G>T (p.Glu617Ter) c.2050G>T (p.Glu684Ter) c.2086G>T (p.Glu696Ter) c.2062G>T (p.Glu688Ter) | |
13 | g.108209219C= | CA2117794092 | LIG4 | c.1849G= (p.Glu617=) c.2050G= (p.Glu684=) c.2086G= (p.Glu696=) c.2062G= (p.Glu688=) | |
13 | g.108209219C>G | CA388614253 | LIG4 | c.1849G>C (p.Glu617Gln) c.2050G>C (p.Glu684Gln) c.2086G>C (p.Glu696Gln) c.2062G>C (p.Glu688Gln) | dbSNP |
13 | g.108209219C>T | CA7043563 | LIG4 | c.1849G>A (p.Glu617Lys) c.2050G>A (p.Glu684Lys) c.2086G>A (p.Glu696Lys) c.2062G>A (p.Glu688Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209220T>A | CA484975092 | LIG4 | c.1848A>T (p.Ala616=) c.2049A>T (p.Ala683=) c.2085A>T (p.Ala695=) c.2061A>T (p.Ala687=) | |
13 | g.108209220T>C | CA484975097 | LIG4 | c.1848A>G (p.Ala616=) c.2049A>G (p.Ala683=) c.2085A>G (p.Ala695=) c.2061A>G (p.Ala687=) | |
13 | g.108209220T>G | CA484975095 | LIG4 | c.1848A>C (p.Ala616=) c.2049A>C (p.Ala683=) c.2085A>C (p.Ala695=) c.2061A>C (p.Ala687=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209220T= | CA2117794093 | LIG4 | c.1848A= (p.Ala616=) c.2049A= (p.Ala683=) c.2085A= (p.Ala695=) c.2061A= (p.Ala687=) | |
13 | g.108209221G>A | CA388614261 | LIG4 | c.1847C>T (p.Ala616Val) c.2048C>T (p.Ala683Val) c.2084C>T (p.Ala695Val) c.2060C>T (p.Ala687Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209221G>C | CA388614262 | LIG4 | c.1847C>G (p.Ala616Gly) c.2048C>G (p.Ala683Gly) c.2084C>G (p.Ala695Gly) c.2060C>G (p.Ala687Gly) | dbSNP |
13 | g.108209221G= | CA2117794094 | LIG4 | c.1847C= (p.Ala616=) c.2048C= (p.Ala683=) c.2084C= (p.Ala695=) c.2060C= (p.Ala687=) | |
13 | g.108209221G>T | CA388614263 | LIG4 | c.1847C>A (p.Ala616Glu) c.2048C>A (p.Ala683Glu) c.2084C>A (p.Ala695Glu) c.2060C>A (p.Ala687Glu) | |
13 | g.108209222C>A | CA388614266 | LIG4 | c.1846G>T (p.Ala616Ser) c.2047G>T (p.Ala683Ser) c.2083G>T (p.Ala695Ser) c.2059G>T (p.Ala687Ser) | |
13 | g.108209222C>G | CA388614269 | LIG4 | c.1846G>C (p.Ala616Pro) c.2047G>C (p.Ala683Pro) c.2083G>C (p.Ala695Pro) c.2059G>C (p.Ala687Pro) | |
13 | g.108209222C>T | CA388614271 | LIG4 | c.1846G>A (p.Ala616Thr) c.2047G>A (p.Ala683Thr) c.2083G>A (p.Ala695Thr) c.2059G>A (p.Ala687Thr) | |
13 | g.108209223A>C | CA388614274 | LIG4 | c.1845T>G (p.Ile615Met) c.2046T>G (p.Ile682Met) c.2082T>G (p.Ile694Met) c.2058T>G (p.Ile686Met) | ClinVar dbSNP |
13 | g.108209223A>G | CA484975099 | LIG4 | c.1845T>C (p.Ile615=) c.2046T>C (p.Ile682=) c.2082T>C (p.Ile694=) c.2058T>C (p.Ile686=) | |
13 | g.108209223A>T | CA484975100 | LIG4 | c.1845T>A (p.Ile615=) c.2046T>A (p.Ile682=) c.2082T>A (p.Ile694=) c.2058T>A (p.Ile686=) | |
13 | g.108209224A= | CA2117794095 | LIG4 | c.1844T= (p.Ile615=) c.2045T= (p.Ile682=) c.2081T= (p.Ile694=) c.2057T= (p.Ile686=) | |
13 | g.108209224A>C | CA388614277 | LIG4 | c.1844T>G (p.Ile615Ser) c.2045T>G (p.Ile682Ser) c.2081T>G (p.Ile694Ser) c.2057T>G (p.Ile686Ser) | |
13 | g.108209224A>G | CA7043564 | LIG4 | c.1844T>C (p.Ile615Thr) c.2045T>C (p.Ile682Thr) c.2081T>C (p.Ile694Thr) c.2057T>C (p.Ile686Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209224A>T | CA388614278 | LIG4 | c.1844T>A (p.Ile615Asn) c.2045T>A (p.Ile682Asn) c.2081T>A (p.Ile694Asn) c.2057T>A (p.Ile686Asn) | |
13 | g.108209225T>A | CA388614279 | LIG4 | c.1843A>T (p.Ile615Phe) c.2044A>T (p.Ile682Phe) c.2080A>T (p.Ile694Phe) c.2056A>T (p.Ile686Phe) | |
13 | g.108209225T>C | CA388614283 | LIG4 | c.1843A>G (p.Ile615Val) c.2044A>G (p.Ile682Val) c.2080A>G (p.Ile694Val) c.2056A>G (p.Ile686Val) | |
13 | g.108209225T>G | CA7043565 | LIG4 | c.1843A>C (p.Ile615Leu) c.2044A>C (p.Ile682Leu) c.2080A>C (p.Ile694Leu) c.2056A>C (p.Ile686Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209225T= | CA2117794096 | LIG4 | c.1843A= (p.Ile615=) c.2044A= (p.Ile682=) c.2080A= (p.Ile694=) c.2056A= (p.Ile686=) | |
13 | g.108209226T>A | CA388614287 | LIG4 | c.1842A>T (p.Arg614Ser) c.2043A>T (p.Arg681Ser) c.2079A>T (p.Arg693Ser) c.2055A>T (p.Arg685Ser) | |
13 | g.108209226T>C | CA484975103 | LIG4 | c.1842A>G (p.Arg614=) c.2043A>G (p.Arg681=) c.2079A>G (p.Arg693=) c.2055A>G (p.Arg685=) | |
13 | g.108209226T>G | CA388614290 | LIG4 | c.1842A>C (p.Arg614Ser) c.2043A>C (p.Arg681Ser) c.2079A>C (p.Arg693Ser) c.2055A>C (p.Arg685Ser) | |
13 | g.108209227C>A | CA388614293 | LIG4 | c.1841G>T (p.Arg614Ile) c.2042G>T (p.Arg681Ile) c.2078G>T (p.Arg693Ile) c.2054G>T (p.Arg685Ile) | COSMIC |
13 | g.108209227C= | CA2117794097 | LIG4 | c.1841G= (p.Arg614=) c.2042G= (p.Arg681=) c.2078G= (p.Arg693=) c.2054G= (p.Arg685=) | |
13 | g.108209227C>G | CA388614299 | LIG4 | c.1841G>C (p.Arg614Thr) c.2042G>C (p.Arg681Thr) c.2078G>C (p.Arg693Thr) c.2054G>C (p.Arg685Thr) | |
13 | g.108209227C>T | CA7043566 | LIG4 | c.1841G>A (p.Arg614Lys) c.2042G>A (p.Arg681Lys) c.2078G>A (p.Arg693Lys) c.2054G>A (p.Arg685Lys) | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.108209228T>A | CA7043567 | LIG4 | c.1840A>T (p.Arg614Ter) c.2041A>T (p.Arg681Ter) c.2077A>T (p.Arg693Ter) c.2053A>T (p.Arg685Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.108209228T>C | CA388614302 | LIG4 | c.1840A>G (p.Arg614Gly) c.2041A>G (p.Arg681Gly) c.2077A>G (p.Arg693Gly) c.2053A>G (p.Arg685Gly) | dbSNP |
13 | g.108209228T>G | CA484975106 | LIG4 | c.1840A>C (p.Arg614=) c.2041A>C (p.Arg681=) c.2077A>C (p.Arg693=) c.2053A>C (p.Arg685=) | gnomAD v4 |
13 | g.108209228T= | CA2117794098 | LIG4 | c.1840A= (p.Arg614=) c.2041A= (p.Arg681=) c.2077A= (p.Arg693=) c.2053A= (p.Arg685=) | |
13 | g.108209229G>A | CA484975108 | LIG4 | c.1839C>T (p.Asn613=) c.2040C>T (p.Asn680=) c.2076C>T (p.Asn692=) c.2052C>T (p.Asn684=) | ClinVar gnomAD v4 |
13 | g.108209229G>C | CA388614303 | LIG4 | c.1839C>G (p.Asn613Lys) c.2040C>G (p.Asn680Lys) c.2076C>G (p.Asn692Lys) c.2052C>G (p.Asn684Lys) | |
13 | g.108209229G>T | CA388614305 | LIG4 | c.1839C>A (p.Asn613Lys) c.2040C>A (p.Asn680Lys) c.2076C>A (p.Asn692Lys) c.2052C>A (p.Asn684Lys) | |
13 | g.108209230T>A | CA388614310 | LIG4 | c.1838A>T (p.Asn613Ile) c.2039A>T (p.Asn680Ile) c.2075A>T (p.Asn692Ile) c.2051A>T (p.Asn684Ile) | |
13 | g.108209230T>C | CA256180176 | LIG4 | c.1838A>G (p.Asn613Ser) c.2039A>G (p.Asn680Ser) c.2075A>G (p.Asn692Ser) c.2051A>G (p.Asn684Ser) | dbSNP |
13 | g.108209230T>G | CA388614313 | LIG4 | c.1838A>C (p.Asn613Thr) c.2039A>C (p.Asn680Thr) c.2075A>C (p.Asn692Thr) c.2051A>C (p.Asn684Thr) | dbSNP |
13 | g.108209230T= | CA2117794099 | LIG4 | c.1838A= (p.Asn613=) c.2039A= (p.Asn680=) c.2075A= (p.Asn692=) c.2051A= (p.Asn684=) | |
13 | g.108209231T>A | CA388614315 | LIG4 | c.1837A>T (p.Asn613Tyr) c.2038A>T (p.Asn680Tyr) c.2074A>T (p.Asn692Tyr) c.2050A>T (p.Asn684Tyr) | |
13 | g.108209231T>C | CA388614318 | LIG4 | c.1837A>G (p.Asn613Asp) c.2038A>G (p.Asn680Asp) c.2074A>G (p.Asn692Asp) c.2050A>G (p.Asn684Asp) | ClinVar dbSNP gnomAD v4 |
13 | g.108209231T>G | CA388614327 | LIG4 | c.1837A>C (p.Asn613His) c.2038A>C (p.Asn680His) c.2074A>C (p.Asn692His) c.2050A>C (p.Asn684His) | |
13 | g.108209232C>A | CA388614333 | LIG4 | c.1836G>T (p.Glu612Asp) c.2037G>T (p.Glu679Asp) c.2073G>T (p.Glu691Asp) c.2049G>T (p.Glu683Asp) | |
13 | g.108209232C>G | CA388614336 | LIG4 | c.1836G>C (p.Glu612Asp) c.2037G>C (p.Glu679Asp) c.2073G>C (p.Glu691Asp) c.2049G>C (p.Glu683Asp) | |
13 | g.108209232C>T | CA484975118 | LIG4 | c.1836G>A (p.Glu612=) c.2037G>A (p.Glu679=) c.2073G>A (p.Glu691=) c.2049G>A (p.Glu683=) | |
13 | g.108209233T>A | CA388614339 | LIG4 | c.1835A>T (p.Glu612Val) c.2036A>T (p.Glu679Val) c.2072A>T (p.Glu691Val) c.2048A>T (p.Glu683Val) | |
13 | g.108209233T>C | CA388614344 | LIG4 | c.1835A>G (p.Glu612Gly) c.2036A>G (p.Glu679Gly) c.2072A>G (p.Glu691Gly) c.2048A>G (p.Glu683Gly) | |
13 | g.108209233T>G | CA388614342 | LIG4 | c.1835A>C (p.Glu612Ala) c.2036A>C (p.Glu679Ala) c.2072A>C (p.Glu691Ala) c.2048A>C (p.Glu683Ala) | |
13 | g.108209234C>A | CA388614348 | LIG4 | c.1834G>T (p.Glu612Ter) c.2035G>T (p.Glu679Ter) c.2071G>T (p.Glu691Ter) c.2047G>T (p.Glu683Ter) | |
13 | g.108209234C= | CA2117794100 | LIG4 | c.1834G= (p.Glu612=) c.2035G= (p.Glu679=) c.2071G= (p.Glu691=) c.2047G= (p.Glu683=) | |
13 | g.108209234C>G | CA256180199 | LIG4 | c.1834G>C (p.Glu612Gln) c.2035G>C (p.Glu679Gln) c.2071G>C (p.Glu691Gln) c.2047G>C (p.Glu683Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209234C>T | CA388614360 | LIG4 | c.1834G>A (p.Glu612Lys) c.2035G>A (p.Glu679Lys) c.2071G>A (p.Glu691Lys) c.2047G>A (p.Glu683Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.108209235C>A | CA484975122 | LIG4 | c.1833G>T (p.Leu611=) c.2034G>T (p.Leu678=) c.2070G>T (p.Leu690=) c.2046G>T (p.Leu682=) | |
13 | g.108209235C>G | CA484975124 | LIG4 | c.1833G>C (p.Leu611=) c.2034G>C (p.Leu678=) c.2070G>C (p.Leu690=) c.2046G>C (p.Leu682=) | |
13 | g.108209235C>T | CA484975125 | LIG4 | c.1833G>A (p.Leu611=) c.2034G>A (p.Leu678=) c.2070G>A (p.Leu690=) c.2046G>A (p.Leu682=) | |
13 | g.108209236A>C | CA388614366 | LIG4 | c.1832T>G (p.Leu611Arg) c.2033T>G (p.Leu678Arg) c.2069T>G (p.Leu690Arg) c.2045T>G (p.Leu682Arg) | |
13 | g.108209236A>G | CA388614369 | LIG4 | c.1832T>C (p.Leu611Pro) c.2033T>C (p.Leu678Pro) c.2069T>C (p.Leu690Pro) c.2045T>C (p.Leu682Pro) | |
13 | g.108209236A>T | CA388614371 | LIG4 | c.1832T>A (p.Leu611Gln) c.2033T>A (p.Leu678Gln) c.2069T>A (p.Leu690Gln) c.2045T>A (p.Leu682Gln) | |
13 | g.108209237G>A | CA484975126 | LIG4 | c.1831C>T (p.Leu611=) c.2032C>T (p.Leu678=) c.2068C>T (p.Leu690=) c.2044C>T (p.Leu682=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.108209237G>C | CA388614375 | LIG4 | c.1831C>G (p.Leu611Val) c.2032C>G (p.Leu678Val) c.2068C>G (p.Leu690Val) c.2044C>G (p.Leu682Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209237G= | CA2117794101 | LIG4 | c.1831C= (p.Leu611=) c.2032C= (p.Leu678=) c.2068C= (p.Leu690=) c.2044C= (p.Leu682=) | |
13 | g.108209237G>T | CA388614389 | LIG4 | c.1831C>A (p.Leu611Met) c.2032C>A (p.Leu678Met) c.2068C>A (p.Leu690Met) c.2044C>A (p.Leu682Met) | gnomAD v4 |
13 | g.108209238G>A | CA484975128 | LIG4 | c.1830C>T (p.Asp610=) c.2031C>T (p.Asp677=) c.2067C>T (p.Asp689=) c.2043C>T (p.Asp681=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.108209238G>C | CA388614393 | LIG4 | c.1830C>G (p.Asp610Glu) c.2031C>G (p.Asp677Glu) c.2067C>G (p.Asp689Glu) c.2043C>G (p.Asp681Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209238G= | CA2117794102 | LIG4 | c.1830C= (p.Asp610=) c.2031C= (p.Asp677=) c.2067C= (p.Asp689=) c.2043C= (p.Asp681=) | |
13 | g.108209238G>T | CA388614397 | LIG4 | c.1830C>A (p.Asp610Glu) c.2031C>A (p.Asp677Glu) c.2067C>A (p.Asp689Glu) c.2043C>A (p.Asp681Glu) | |
13 | g.108209239T>A | CA388614409 | LIG4 | c.1829A>T (p.Asp610Val) c.2030A>T (p.Asp677Val) c.2066A>T (p.Asp689Val) c.2042A>T (p.Asp681Val) | |
13 | g.108209239T>C | CA388614410 | LIG4 | c.1829A>G (p.Asp610Gly) c.2030A>G (p.Asp677Gly) c.2066A>G (p.Asp689Gly) c.2042A>G (p.Asp681Gly) | |
13 | g.108209239T>G | CA388614406 | LIG4 | c.1829A>C (p.Asp610Ala) c.2030A>C (p.Asp677Ala) c.2066A>C (p.Asp689Ala) c.2042A>C (p.Asp681Ala) | |
13 | g.108209240C>A | CA388614411 | LIG4 | c.1828G>T (p.Asp610Tyr) c.2029G>T (p.Asp677Tyr) c.2065G>T (p.Asp689Tyr) c.2041G>T (p.Asp681Tyr) | |
13 | g.108209240C>G | CA388614416 | LIG4 | c.1828G>C (p.Asp610His) c.2029G>C (p.Asp677His) c.2065G>C (p.Asp689His) c.2041G>C (p.Asp681His) | |
13 | g.108209240C>T | CA388614418 | LIG4 | c.1828G>A (p.Asp610Asn) c.2029G>A (p.Asp677Asn) c.2065G>A (p.Asp689Asn) c.2041G>A (p.Asp681Asn) | COSMIC |
13 | g.108209241A= | CA2117794103 | LIG4 | c.1827T= (p.Pro609=) c.2028T= (p.Pro676=) c.2064T= (p.Pro688=) c.2040T= (p.Pro680=) | |
13 | g.108209241A>C | CA484975135 | LIG4 | c.1827T>G (p.Pro609=) c.2028T>G (p.Pro676=) c.2064T>G (p.Pro688=) c.2040T>G (p.Pro680=) | |
13 | g.108209241A>G | CA484975134 | LIG4 | c.1827T>C (p.Pro609=) c.2028T>C (p.Pro676=) c.2064T>C (p.Pro688=) c.2040T>C (p.Pro680=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209241A>T | CA484975133 | LIG4 | c.1827T>A (p.Pro609=) c.2028T>A (p.Pro676=) c.2064T>A (p.Pro688=) c.2040T>A (p.Pro680=) | dbSNP |
13 | g.108209242G>A | CA388614420 | LIG4 | c.1826C>T (p.Pro609Leu) c.2027C>T (p.Pro676Leu) c.2063C>T (p.Pro688Leu) c.2039C>T (p.Pro680Leu) | |
13 | g.108209242G>C | CA388614423 | LIG4 | c.1826C>G (p.Pro609Arg) c.2027C>G (p.Pro676Arg) c.2063C>G (p.Pro688Arg) c.2039C>G (p.Pro680Arg) | |
13 | g.108209242G>T | CA388614425 | LIG4 | c.1826C>A (p.Pro609His) c.2027C>A (p.Pro676His) c.2063C>A (p.Pro688His) c.2039C>A (p.Pro680His) | |
13 | g.108209243G>A | CA388614433 | LIG4 | c.1825C>T (p.Pro609Ser) c.2026C>T (p.Pro676Ser) c.2062C>T (p.Pro688Ser) c.2038C>T (p.Pro680Ser) | dbSNP |
13 | g.108209243G>C | CA388614429 | LIG4 | c.1825C>G (p.Pro609Ala) c.2026C>G (p.Pro676Ala) c.2062C>G (p.Pro688Ala) c.2038C>G (p.Pro680Ala) | |
13 | g.108209243G= | CA2117794104 | LIG4 | c.1825C= (p.Pro609=) c.2026C= (p.Pro676=) c.2062C= (p.Pro688=) c.2038C= (p.Pro680=) | |
13 | g.108209243G>T | CA388614432 | LIG4 | c.1825C>A (p.Pro609Thr) c.2026C>A (p.Pro676Thr) c.2062C>A (p.Pro688Thr) c.2038C>A (p.Pro680Thr) | |
13 | g.108209244C>A | CA388614435 | LIG4 | c.1824G>T (p.Lys608Asn) c.2025G>T (p.Lys675Asn) c.2061G>T (p.Lys687Asn) c.2037G>T (p.Lys679Asn) | |
13 | g.108209244C>G | CA388614437 | LIG4 | c.1824G>C (p.Lys608Asn) c.2025G>C (p.Lys675Asn) c.2061G>C (p.Lys687Asn) c.2037G>C (p.Lys679Asn) | |
13 | g.108209244C>T | CA484975144 | LIG4 | c.1824G>A (p.Lys608=) c.2025G>A (p.Lys675=) c.2061G>A (p.Lys687=) c.2037G>A (p.Lys679=) | |
13 | g.108209245T>A | CA388614441 | LIG4 | c.1823A>T (p.Lys608Met) c.2024A>T (p.Lys675Met) c.2060A>T (p.Lys687Met) c.2036A>T (p.Lys679Met) | |
13 | g.108209245T>C | CA388614446 | LIG4 | c.1823A>G (p.Lys608Arg) c.2024A>G (p.Lys675Arg) c.2060A>G (p.Lys687Arg) c.2036A>G (p.Lys679Arg) | |
13 | g.108209245T>G | CA388614447 | LIG4 | c.1823A>C (p.Lys608Thr) c.2024A>C (p.Lys675Thr) c.2060A>C (p.Lys687Thr) c.2036A>C (p.Lys679Thr) | |
13 | g.108209246T>A | CA388614450 | LIG4 | c.1822A>T (p.Lys608Ter) c.2023A>T (p.Lys675Ter) c.2059A>T (p.Lys687Ter) c.2035A>T (p.Lys679Ter) | |
13 | g.108209246T>C | CA388614457 | LIG4 | c.1822A>G (p.Lys608Glu) c.2023A>G (p.Lys675Glu) c.2059A>G (p.Lys687Glu) c.2035A>G (p.Lys679Glu) | |
13 | g.108209246T>G | CA388614453 | LIG4 | c.1822A>C (p.Lys608Gln) c.2023A>C (p.Lys675Gln) c.2059A>C (p.Lys687Gln) c.2035A>C (p.Lys679Gln) | |
13 | g.108209247T>A | CA484975146 | LIG4 | c.1821A>T (p.Pro607=) c.2022A>T (p.Pro674=) c.2058A>T (p.Pro686=) c.2034A>T (p.Pro678=) | |
13 | g.108209247T>C | CA484975148 | LIG4 | c.1821A>G (p.Pro607=) c.2022A>G (p.Pro674=) c.2058A>G (p.Pro686=) c.2034A>G (p.Pro678=) | |
13 | g.108209247T>G | CA484975147 | LIG4 | c.1821A>C (p.Pro607=) c.2022A>C (p.Pro674=) c.2058A>C (p.Pro686=) c.2034A>C (p.Pro678=) | |
13 | g.108209247T= | CA2117794105 | LIG4 | c.1821A= (p.Pro607=) c.2022A= (p.Pro674=) c.2058A= (p.Pro686=) c.2034A= (p.Pro678=) | |
13 | g.108209248G>A | CA388614461 | LIG4 | c.1820C>T (p.Pro607Leu) c.2021C>T (p.Pro674Leu) c.2057C>T (p.Pro686Leu) c.2033C>T (p.Pro678Leu) | |
13 | g.108209248G>C | CA388614464 | LIG4 | c.1820C>G (p.Pro607Arg) c.2021C>G (p.Pro674Arg) c.2057C>G (p.Pro686Arg) c.2033C>G (p.Pro678Arg) | |
13 | g.108209248G>T | CA388614467 | LIG4 | c.1820C>A (p.Pro607Gln) c.2021C>A (p.Pro674Gln) c.2057C>A (p.Pro686Gln) c.2033C>A (p.Pro678Gln) | |
13 | g.108209249dup | CA2117794106 | LIG4 | c.1820dup (p.Pro609AlafsTer2) c.2021dup (p.Pro676AlafsTer2) c.2057dup (p.Pro688AlafsTer2) c.2033dup (p.Pro680AlafsTer2) | dbSNP |
13 | g.108209249G>A | CA388614472 | LIG4 | c.1819C>T (p.Pro607Ser) c.2020C>T (p.Pro674Ser) c.2056C>T (p.Pro686Ser) c.2032C>T (p.Pro678Ser) | |
13 | g.108209249G>C | CA388614475 | LIG4 | c.1819C>G (p.Pro607Ala) c.2020C>G (p.Pro674Ala) c.2056C>G (p.Pro686Ala) c.2032C>G (p.Pro678Ala) | |
13 | g.108209249G>T | CA388614477 | LIG4 | c.1819C>A (p.Pro607Thr) c.2020C>A (p.Pro674Thr) c.2056C>A (p.Pro686Thr) c.2032C>A (p.Pro678Thr) | |
13 | g.108209250C>A | CA388614481 | LIG4 | c.1818G>T (p.Gln606His) c.2019G>T (p.Gln673His) c.2055G>T (p.Gln685His) c.2031G>T (p.Gln677His) | |
13 | g.108209250C>G | CA388614483 | LIG4 | c.1818G>C (p.Gln606His) c.2019G>C (p.Gln673His) c.2055G>C (p.Gln685His) c.2031G>C (p.Gln677His) | |
13 | g.108209250C>T | CA484975152 | LIG4 | c.1818G>A (p.Gln606=) c.2019G>A (p.Gln673=) c.2055G>A (p.Gln685=) c.2031G>A (p.Gln677=) | |
13 | g.108209251T>A | CA388614487 | LIG4 | c.1817A>T (p.Gln606Leu) c.2018A>T (p.Gln673Leu) c.2054A>T (p.Gln685Leu) c.2030A>T (p.Gln677Leu) | |
13 | g.108209251T>C | CA388614490 | LIG4 | c.1817A>G (p.Gln606Arg) c.2018A>G (p.Gln673Arg) c.2054A>G (p.Gln685Arg) c.2030A>G (p.Gln677Arg) | |
13 | g.108209251T>G | CA388614498 | LIG4 | c.1817A>C (p.Gln606Pro) c.2018A>C (p.Gln673Pro) c.2054A>C (p.Gln685Pro) c.2030A>C (p.Gln677Pro) | |
13 | g.108209252G>A | CA388614507 | LIG4 | c.1816C>T (p.Gln606Ter) c.2017C>T (p.Gln673Ter) c.2053C>T (p.Gln685Ter) c.2029C>T (p.Gln677Ter) | |
13 | g.108209252G>C | CA388614504 | LIG4 | c.1816C>G (p.Gln606Glu) c.2017C>G (p.Gln673Glu) c.2053C>G (p.Gln685Glu) c.2029C>G (p.Gln677Glu) | |
13 | g.108209252G>T | CA388614502 | LIG4 | c.1816C>A (p.Gln606Lys) c.2017C>A (p.Gln673Lys) c.2053C>A (p.Gln685Lys) c.2029C>A (p.Gln677Lys) | |
13 | g.108209253G>A | CA484975159 | LIG4 | c.1815C>T (p.Ser605=) c.2016C>T (p.Ser672=) c.2052C>T (p.Ser684=) c.2028C>T (p.Ser676=) | |
13 | g.108209253G>C | CA206421 | LIG4 | c.1815C>G (p.Ser605Arg) c.2016C>G (p.Ser672Arg) c.2052C>G (p.Ser684Arg) c.2028C>G (p.Ser676Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209253G= | CA2117794107 | LIG4 | c.1815C= (p.Ser605=) c.2016C= (p.Ser672=) c.2052C= (p.Ser684=) c.2028C= (p.Ser676=) | |
13 | g.108209253G>T | CA388614528 | LIG4 | c.1815C>A (p.Ser605Arg) c.2016C>A (p.Ser672Arg) c.2052C>A (p.Ser684Arg) c.2028C>A (p.Ser676Arg) | |
13 | g.108209254C>A | CA388614532 | LIG4 | c.1814G>T (p.Ser605Ile) c.2015G>T (p.Ser672Ile) c.2051G>T (p.Ser684Ile) c.2027G>T (p.Ser676Ile) | |
13 | g.108209254C>G | CA388614535 | LIG4 | c.1814G>C (p.Ser605Thr) c.2015G>C (p.Ser672Thr) c.2051G>C (p.Ser684Thr) c.2027G>C (p.Ser676Thr) | |
13 | g.108209254C>T | CA388614538 | LIG4 | c.1814G>A (p.Ser605Asn) c.2015G>A (p.Ser672Asn) c.2051G>A (p.Ser684Asn) c.2027G>A (p.Ser676Asn) | |
13 | g.108209255T>A | CA388614543 | LIG4 | c.1813A>T (p.Ser605Cys) c.2014A>T (p.Ser672Cys) c.2050A>T (p.Ser684Cys) c.2026A>T (p.Ser676Cys) | |
13 | g.108209255T>C | CA388614546 | LIG4 | c.1813A>G (p.Ser605Gly) c.2014A>G (p.Ser672Gly) c.2050A>G (p.Ser684Gly) c.2026A>G (p.Ser676Gly) | |
13 | g.108209255T>G | CA388614552 | LIG4 | c.1813A>C (p.Ser605Arg) c.2014A>C (p.Ser672Arg) c.2050A>C (p.Ser684Arg) c.2026A>C (p.Ser676Arg) | |
13 | g.108209256A= | CA2117794108 | LIG4 | c.1812T= (p.Asp604=) c.2013T= (p.Asp671=) c.2049T= (p.Asp683=) c.2025T= (p.Asp675=) | |
13 | g.108209256A>C | CA388614556 | LIG4 | c.1812T>G (p.Asp604Glu) c.2013T>G (p.Asp671Glu) c.2049T>G (p.Asp683Glu) c.2025T>G (p.Asp675Glu) | |
13 | g.108209256A>G | CA256180214 | LIG4 | c.1812T>C (p.Asp604=) c.2013T>C (p.Asp671=) c.2049T>C (p.Asp683=) c.2025T>C (p.Asp675=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.108209256A>T | CA388614559 | LIG4 | c.1812T>A (p.Asp604Glu) c.2013T>A (p.Asp671Glu) c.2049T>A (p.Asp683Glu) c.2025T>A (p.Asp675Glu) | |
13 | g.108209257T>A | CA388614562 | LIG4 | c.1811A>T (p.Asp604Val) c.2012A>T (p.Asp671Val) c.2048A>T (p.Asp683Val) c.2024A>T (p.Asp675Val) | |
13 | g.108209257T>C | CA388614566 | LIG4 | c.1811A>G (p.Asp604Gly) c.2012A>G (p.Asp671Gly) c.2048A>G (p.Asp683Gly) c.2024A>G (p.Asp675Gly) | |
13 | g.108209257T>G | CA388614570 | LIG4 | c.1811A>C (p.Asp604Ala) c.2012A>C (p.Asp671Ala) c.2048A>C (p.Asp683Ala) c.2024A>C (p.Asp675Ala) | |
13 | g.108209258C>A | CA388614578 | LIG4 | c.1810G>T (p.Asp604Tyr) c.2011G>T (p.Asp671Tyr) c.2047G>T (p.Asp683Tyr) c.2023G>T (p.Asp675Tyr) | |
13 | g.108209258C= | CA2117794109 | LIG4 | c.1810G= (p.Asp604=) c.2011G= (p.Asp671=) c.2047G= (p.Asp683=) c.2023G= (p.Asp675=) | |
13 | g.108209258C>G | CA388614574 | LIG4 | c.1810G>C (p.Asp604His) c.2011G>C (p.Asp671His) c.2047G>C (p.Asp683His) c.2023G>C (p.Asp675His) | |
13 | g.108209258C>T | CA7043568 | LIG4 | c.1810G>A (p.Asp604Asn) c.2011G>A (p.Asp671Asn) c.2047G>A (p.Asp683Asn) c.2023G>A (p.Asp675Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.108209259T>A | CA484975165 | LIG4 | c.1809A>T (p.Thr603=) c.2010A>T (p.Thr670=) c.2046A>T (p.Thr682=) c.2022A>T (p.Thr674=) | dbSNP |
13 | g.108209259T>C | CA484975167 | LIG4 | c.1809A>G (p.Thr603=) c.2010A>G (p.Thr670=) c.2046A>G (p.Thr682=) c.2022A>G (p.Thr674=) | |
13 | g.108209259T>G | CA484975171 | LIG4 | c.1809A>C (p.Thr603=) c.2010A>C (p.Thr670=) c.2046A>C (p.Thr682=) c.2022A>C (p.Thr674=) | |
13 | g.108209259T= | CA2117794110 | LIG4 | c.1809A= (p.Thr603=) c.2010A= (p.Thr670=) c.2046A= (p.Thr682=) c.2022A= (p.Thr674=) | |
13 | g.108209260G>A | CA388614581 | LIG4 | c.1808C>T (p.Thr603Ile) c.2009C>T (p.Thr670Ile) c.2045C>T (p.Thr682Ile) c.2021C>T (p.Thr674Ile) | |
13 | g.108209260G>C | CA388614583 | LIG4 | c.1808C>G (p.Thr603Arg) c.2009C>G (p.Thr670Arg) c.2045C>G (p.Thr682Arg) c.2021C>G (p.Thr674Arg) | |
13 | g.108209260G>T | CA388614587 | LIG4 | c.1808C>A (p.Thr603Lys) c.2009C>A (p.Thr670Lys) c.2045C>A (p.Thr682Lys) c.2021C>A (p.Thr674Lys) | |
13 | g.108209261T>A | CA388614589 | LIG4 | c.1807A>T (p.Thr603Ser) c.2008A>T (p.Thr670Ser) c.2044A>T (p.Thr682Ser) c.2020A>T (p.Thr674Ser) | |
13 | g.108209261T>C | CA388614590 | LIG4 | c.1807A>G (p.Thr603Ala) c.2008A>G (p.Thr670Ala) c.2044A>G (p.Thr682Ala) c.2020A>G (p.Thr674Ala) | gnomAD v4 |
13 | g.108209261T>G | CA388614592 | LIG4 | c.1807A>C (p.Thr603Pro) c.2008A>C (p.Thr670Pro) c.2044A>C (p.Thr682Pro) c.2020A>C (p.Thr674Pro) | |
13 | g.108209262T>A | CA484975177 | LIG4 | c.1806A>T (p.Gly602=) c.2007A>T (p.Gly669=) c.2043A>T (p.Gly681=) c.2019A>T (p.Gly673=) | |
13 | g.108209262T>C | CA484975175 | LIG4 | c.1806A>G (p.Gly602=) c.2007A>G (p.Gly669=) c.2043A>G (p.Gly681=) c.2019A>G (p.Gly673=) | |
13 | g.108209262T>G | CA484975176 | LIG4 | c.1806A>C (p.Gly602=) c.2007A>C (p.Gly669=) c.2043A>C (p.Gly681=) c.2019A>C (p.Gly673=) |