Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.121318286del | CA2621415537 | ANAPC5 | c.1887del (p.Phe629LeufsTer13) c.1551del (p.Phe517LeufsTer13) n.2619del c.885del (p.Phe295LeufsTer13) n.2098del c.1211del c.1848del (p.Phe616LeufsTer13) n.1005del n.1057del c.693del (p.Phe231LeufsTer13) | gnomAD v4 |
12 | g.121318285A>C | CA386959271 | ANAPC5 | c.1885T>G (p.Phe629Val) c.1549T>G (p.Phe517Val) n.2617T>G c.883T>G (p.Phe295Val) n.2096T>G c.1209T>G c.1846T>G (p.Phe616Val) n.1003T>G n.1055T>G c.691T>G (p.Phe231Val) | COSMIC |
12 | g.121318285A>G | CA386959268 | ANAPC5 | c.1885T>C (p.Phe629Leu) c.1549T>C (p.Phe517Leu) n.2617T>C c.883T>C (p.Phe295Leu) n.2096T>C c.1209T>C c.1846T>C (p.Phe616Leu) n.1003T>C n.1055T>C c.691T>C (p.Phe231Leu) | |
12 | g.121318285A>T | CA386959265 | ANAPC5 | c.1885T>A (p.Phe629Ile) c.1549T>A (p.Phe517Ile) n.2617T>A c.883T>A (p.Phe295Ile) n.2096T>A c.1209T>A c.1846T>A (p.Phe616Ile) n.1003T>A n.1055T>A c.691T>A (p.Phe231Ile) | |
12 | g.121318286A>C | CA482430244 | ANAPC5 | c.1884T>G (p.Ala628=) c.1548T>G (p.Ala516=) n.2616T>G c.882T>G (p.Ala294=) n.2095T>G c.1208T>G c.1845T>G (p.Ala615=) n.1002T>G n.1054T>G c.690T>G (p.Ala230=) | |
12 | g.121318286A>G | CA482430246 | ANAPC5 | c.1884T>C (p.Ala628=) c.1548T>C (p.Ala516=) n.2616T>C c.882T>C (p.Ala294=) n.2095T>C c.1208T>C c.1845T>C (p.Ala615=) n.1002T>C n.1054T>C c.690T>C (p.Ala230=) | |
12 | g.121318286A>T | CA482430245 | ANAPC5 | c.1884T>A (p.Ala628=) c.1548T>A (p.Ala516=) n.2616T>A c.882T>A (p.Ala294=) n.2095T>A c.1208T>A c.1845T>A (p.Ala615=) n.1002T>A n.1054T>A c.690T>A (p.Ala230=) | |
12 | g.121318287G>A | CA386959278 | ANAPC5 | c.1883C>T (p.Ala628Val) c.1547C>T (p.Ala516Val) n.2615C>T c.881C>T (p.Ala294Val) n.2094C>T c.1207C>T c.1844C>T (p.Ala615Val) n.1001C>T n.1053C>T c.689C>T (p.Ala230Val) | |
12 | g.121318287G>C | CA386959283 | ANAPC5 | c.1883C>G (p.Ala628Gly) c.1547C>G (p.Ala516Gly) n.2615C>G c.881C>G (p.Ala294Gly) n.2094C>G c.1207C>G c.1844C>G (p.Ala615Gly) n.1001C>G n.1053C>G c.689C>G (p.Ala230Gly) | |
12 | g.121318287G>T | CA386959286 | ANAPC5 | c.1883C>A (p.Ala628Asp) c.1547C>A (p.Ala516Asp) n.2615C>A c.881C>A (p.Ala294Asp) n.2094C>A c.1207C>A c.1844C>A (p.Ala615Asp) n.1001C>A n.1053C>A c.689C>A (p.Ala230Asp) | gnomAD v4 |
12 | g.121318288C>A | CA386959291 | ANAPC5 | c.1882G>T (p.Ala628Ser) c.1546G>T (p.Ala516Ser) n.2614G>T c.880G>T (p.Ala294Ser) n.2093G>T c.1206G>T c.1843G>T (p.Ala615Ser) n.1000G>T n.1052G>T c.688G>T (p.Ala230Ser) | gnomAD v4 |
12 | g.121318288C= | CA2067835223 | ANAPC5 | c.1882G= (p.Ala628=) c.1546G= (p.Ala516=) n.2614G= c.880G= (p.Ala294=) n.2093G= c.1206G= c.1843G= (p.Ala615=) n.1000G= n.1052G= c.688G= (p.Ala230=) | |
12 | g.121318288C>G | CA386959294 | ANAPC5 | c.1882G>C (p.Ala628Pro) c.1546G>C (p.Ala516Pro) n.2614G>C c.880G>C (p.Ala294Pro) n.2093G>C c.1206G>C c.1843G>C (p.Ala615Pro) n.1000G>C n.1052G>C c.688G>C (p.Ala230Pro) | gnomAD v4 |
12 | g.121318288C>T | CA386959295 | ANAPC5 | c.1882G>A (p.Ala628Thr) c.1546G>A (p.Ala516Thr) n.2614G>A c.880G>A (p.Ala294Thr) n.2093G>A c.1206G>A c.1843G>A (p.Ala615Thr) n.1000G>A n.1052G>A c.688G>A (p.Ala230Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318289C>A | CA386959299 | ANAPC5 | c.1881G>T (p.Leu627Phe) c.1545G>T (p.Leu515Phe) n.2613G>T c.879G>T (p.Leu293Phe) n.2092G>T c.1205G>T c.1842G>T (p.Leu614Phe) n.999G>T n.1051G>T c.687G>T (p.Leu229Phe) | gnomAD v4 |
12 | g.121318289C= | CA2067835227 | ANAPC5 | c.1881G= (p.Leu627=) c.1545G= (p.Leu515=) n.2613G= c.879G= (p.Leu293=) n.2092G= c.1205G= c.1842G= (p.Leu614=) n.999G= n.1051G= c.687G= (p.Leu229=) | |
12 | g.121318289C>G | CA386959300 | ANAPC5 | c.1881G>C (p.Leu627Phe) c.1545G>C (p.Leu515Phe) n.2613G>C c.879G>C (p.Leu293Phe) n.2092G>C c.1205G>C c.1842G>C (p.Leu614Phe) n.999G>C n.1051G>C c.687G>C (p.Leu229Phe) | |
12 | g.121318289C>T | CA6835149 | ANAPC5 | c.1881G>A (p.Leu627=) c.1545G>A (p.Leu515=) n.2613G>A c.879G>A (p.Leu293=) n.2092G>A c.1205G>A c.1842G>A (p.Leu614=) n.999G>A n.1051G>A c.687G>A (p.Leu229=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318290A>C | CA386959305 | ANAPC5 | c.1880T>G (p.Leu627Trp) c.1544T>G (p.Leu515Trp) n.2612T>G c.878T>G (p.Leu293Trp) n.2091T>G c.1204T>G c.1841T>G (p.Leu614Trp) n.998T>G n.1050T>G c.686T>G (p.Leu229Trp) | |
12 | g.121318290A>G | CA386959306 | ANAPC5 | c.1880T>C (p.Leu627Ser) c.1544T>C (p.Leu515Ser) n.2612T>C c.878T>C (p.Leu293Ser) n.2091T>C c.1204T>C c.1841T>C (p.Leu614Ser) n.998T>C n.1050T>C c.686T>C (p.Leu229Ser) | |
12 | g.121318290A>T | CA386959307 | ANAPC5 | c.1880T>A (p.Leu627Ter) c.1544T>A (p.Leu515Ter) n.2612T>A c.878T>A (p.Leu293Ter) n.2091T>A c.1204T>A c.1841T>A (p.Leu614Ter) n.998T>A n.1050T>A c.686T>A (p.Leu229Ter) | |
12 | g.121318291A>C | CA386959309 | ANAPC5 | c.1879T>G (p.Leu627Val) c.1543T>G (p.Leu515Val) n.2611T>G c.877T>G (p.Leu293Val) n.2090T>G c.1203T>G c.1840T>G (p.Leu614Val) n.997T>G n.1049T>G c.685T>G (p.Leu229Val) | |
12 | g.121318291A>G | CA482430247 | ANAPC5 | c.1879T>C (p.Leu627=) c.1543T>C (p.Leu515=) n.2611T>C c.877T>C (p.Leu293=) n.2090T>C c.1203T>C c.1840T>C (p.Leu614=) n.997T>C n.1049T>C c.685T>C (p.Leu229=) | |
12 | g.121318291A>T | CA386959308 | ANAPC5 | c.1879T>A (p.Leu627Met) c.1543T>A (p.Leu515Met) n.2611T>A c.877T>A (p.Leu293Met) n.2090T>A c.1203T>A c.1840T>A (p.Leu614Met) n.997T>A n.1049T>A c.685T>A (p.Leu229Met) | |
12 | g.121318292G>A | CA482430248 | ANAPC5 | c.1878C>T (p.Asn626=) c.1542C>T (p.Asn514=) n.2610C>T c.876C>T (p.Asn292=) n.2089C>T c.1202C>T c.1839C>T (p.Asn613=) n.996C>T n.1048C>T c.684C>T (p.Asn228=) | |
12 | g.121318292G>C | CA386959311 | ANAPC5 | c.1878C>G (p.Asn626Lys) c.1542C>G (p.Asn514Lys) n.2610C>G c.876C>G (p.Asn292Lys) n.2089C>G c.1202C>G c.1839C>G (p.Asn613Lys) n.996C>G n.1048C>G c.684C>G (p.Asn228Lys) | |
12 | g.121318292G>T | CA386959314 | ANAPC5 | c.1878C>A (p.Asn626Lys) c.1542C>A (p.Asn514Lys) n.2610C>A c.876C>A (p.Asn292Lys) n.2089C>A c.1202C>A c.1839C>A (p.Asn613Lys) n.996C>A n.1048C>A c.684C>A (p.Asn228Lys) | |
12 | g.121318293T>A | CA386959317 | ANAPC5 | c.1877A>T (p.Asn626Ile) c.1541A>T (p.Asn514Ile) n.2609A>T c.875A>T (p.Asn292Ile) n.2088A>T c.1201A>T c.1838A>T (p.Asn613Ile) n.995A>T n.1047A>T c.683A>T (p.Asn228Ile) | |
12 | g.121318293T>C | CA386959318 | ANAPC5 | c.1877A>G (p.Asn626Ser) c.1541A>G (p.Asn514Ser) n.2609A>G c.875A>G (p.Asn292Ser) n.2088A>G c.1201A>G c.1838A>G (p.Asn613Ser) n.995A>G n.1047A>G c.683A>G (p.Asn228Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318293T>G | CA386959319 | ANAPC5 | c.1877A>C (p.Asn626Thr) c.1541A>C (p.Asn514Thr) n.2609A>C c.875A>C (p.Asn292Thr) n.2088A>C c.1201A>C c.1838A>C (p.Asn613Thr) n.995A>C n.1047A>C c.683A>C (p.Asn228Thr) | |
12 | g.121318293T= | CA2067835229 | ANAPC5 | c.1877A= (p.Asn626=) c.1541A= (p.Asn514=) n.2609A= c.875A= (p.Asn292=) n.2088A= c.1201A= c.1838A= (p.Asn613=) n.995A= n.1047A= c.683A= (p.Asn228=) | |
12 | g.121318294T>A | CA386959326 | ANAPC5 | c.1876A>T (p.Asn626Tyr) c.1540A>T (p.Asn514Tyr) n.2608A>T c.874A>T (p.Asn292Tyr) n.2087A>T c.1200A>T c.1837A>T (p.Asn613Tyr) n.994A>T n.1046A>T c.682A>T (p.Asn228Tyr) | |
12 | g.121318294T>C | CA386959324 | ANAPC5 | c.1876A>G (p.Asn626Asp) c.1540A>G (p.Asn514Asp) n.2608A>G c.874A>G (p.Asn292Asp) n.2087A>G c.1200A>G c.1837A>G (p.Asn613Asp) n.994A>G n.1046A>G c.682A>G (p.Asn228Asp) | |
12 | g.121318294T>G | CA386959321 | ANAPC5 | c.1876A>C (p.Asn626His) c.1540A>C (p.Asn514His) n.2608A>C c.874A>C (p.Asn292His) n.2087A>C c.1200A>C c.1837A>C (p.Asn613His) n.994A>C n.1046A>C c.682A>C (p.Asn228His) | |
12 | g.121318295C>A | CA482430249 | ANAPC5 | c.1875G>T (p.Leu625=) c.1539G>T (p.Leu513=) n.2607G>T c.873G>T (p.Leu291=) n.2086G>T c.1199G>T c.1836G>T (p.Leu612=) n.993G>T n.1045G>T c.681G>T (p.Leu227=) | gnomAD v4 |
12 | g.121318295C= | CA2067835230 | ANAPC5 | c.1875G= (p.Leu625=) c.1539G= (p.Leu513=) n.2607G= c.873G= (p.Leu291=) n.2086G= c.1199G= c.1836G= (p.Leu612=) n.993G= n.1045G= c.681G= (p.Leu227=) | |
12 | g.121318295C>G | CA244574696 | ANAPC5 | c.1875G>C (p.Leu625=) c.1539G>C (p.Leu513=) n.2607G>C c.873G>C (p.Leu291=) n.2086G>C c.1199G>C c.1836G>C (p.Leu612=) n.993G>C n.1045G>C c.681G>C (p.Leu227=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318295C>T | CA482430250 | ANAPC5 | c.1875G>A (p.Leu625=) c.1539G>A (p.Leu513=) n.2607G>A c.873G>A (p.Leu291=) n.2086G>A c.1199G>A c.1836G>A (p.Leu612=) n.993G>A n.1045G>A c.681G>A (p.Leu227=) | |
12 | g.121318296A>C | CA386959332 | ANAPC5 | c.1874T>G (p.Leu625Arg) c.1538T>G (p.Leu513Arg) n.2606T>G c.872T>G (p.Leu291Arg) n.2085T>G c.1198T>G c.1835T>G (p.Leu612Arg) n.992T>G n.1044T>G c.680T>G (p.Leu227Arg) | |
12 | g.121318296A>G | CA386959333 | ANAPC5 | c.1874T>C (p.Leu625Pro) c.1538T>C (p.Leu513Pro) n.2606T>C c.872T>C (p.Leu291Pro) n.2085T>C c.1198T>C c.1835T>C (p.Leu612Pro) n.992T>C n.1044T>C c.680T>C (p.Leu227Pro) | gnomAD v4 |
12 | g.121318296A>T | CA386959334 | ANAPC5 | c.1874T>A (p.Leu625Gln) c.1538T>A (p.Leu513Gln) n.2606T>A c.872T>A (p.Leu291Gln) n.2085T>A c.1198T>A c.1835T>A (p.Leu612Gln) n.992T>A n.1044T>A c.680T>A (p.Leu227Gln) | |
12 | g.121318297G>A | CA482430251 | ANAPC5 | c.1873C>T (p.Leu625=) c.1537C>T (p.Leu513=) n.2605C>T c.871C>T (p.Leu291=) n.2084C>T c.1197C>T c.1834C>T (p.Leu612=) n.991C>T n.1043C>T c.679C>T (p.Leu227=) | gnomAD v4 |
12 | g.121318297G>C | CA386959335 | ANAPC5 | c.1873C>G (p.Leu625Val) c.1537C>G (p.Leu513Val) n.2605C>G c.871C>G (p.Leu291Val) n.2084C>G c.1197C>G c.1834C>G (p.Leu612Val) n.991C>G n.1043C>G c.679C>G (p.Leu227Val) | |
12 | g.121318297G>T | CA386959337 | ANAPC5 | c.1873C>A (p.Leu625Met) c.1537C>A (p.Leu513Met) n.2605C>A c.871C>A (p.Leu291Met) n.2084C>A c.1197C>A c.1834C>A (p.Leu612Met) n.991C>A n.1043C>A c.679C>A (p.Leu227Met) | gnomAD v4 |
12 | g.121318298C>A | CA482430252 | ANAPC5 | c.1872G>T (p.Val624=) c.1536G>T (p.Val512=) n.2604G>T c.870G>T (p.Val290=) n.2083G>T c.1196G>T c.1833G>T (p.Val611=) n.990G>T n.1042G>T c.678G>T (p.Val226=) | gnomAD v4 |
12 | g.121318298C>G | CA482430253 | ANAPC5 | c.1872G>C (p.Val624=) c.1536G>C (p.Val512=) n.2604G>C c.870G>C (p.Val290=) n.2083G>C c.1196G>C c.1833G>C (p.Val611=) n.990G>C n.1042G>C c.678G>C (p.Val226=) | |
12 | g.121318298C>T | CA482430254 | ANAPC5 | c.1872G>A (p.Val624=) c.1536G>A (p.Val512=) n.2604G>A c.870G>A (p.Val290=) n.2083G>A c.1196G>A c.1833G>A (p.Val611=) n.990G>A n.1042G>A c.678G>A (p.Val226=) | |
12 | g.121318299A>C | CA386959344 | ANAPC5 | c.1871T>G (p.Val624Gly) c.1535T>G (p.Val512Gly) n.2603T>G c.869T>G (p.Val290Gly) n.2082T>G c.1195T>G c.1832T>G (p.Val611Gly) n.989T>G n.1041T>G c.677T>G (p.Val226Gly) | |
12 | g.121318299A>G | CA386959367 | ANAPC5 | c.1871T>C (p.Val624Ala) c.1535T>C (p.Val512Ala) n.2603T>C c.869T>C (p.Val290Ala) n.2082T>C c.1195T>C c.1832T>C (p.Val611Ala) n.989T>C n.1041T>C c.677T>C (p.Val226Ala) | |
12 | g.121318299A>T | CA386959350 | ANAPC5 | c.1871T>A (p.Val624Glu) c.1535T>A (p.Val512Glu) n.2603T>A c.869T>A (p.Val290Glu) n.2082T>A c.1195T>A c.1832T>A (p.Val611Glu) n.989T>A n.1041T>A c.677T>A (p.Val226Glu) | |
12 | g.121318300C>A | CA386959372 | ANAPC5 | c.1870G>T (p.Val624Leu) c.1534G>T (p.Val512Leu) n.2602G>T c.868G>T (p.Val290Leu) n.2081G>T c.1194G>T c.1831G>T (p.Val611Leu) n.988G>T n.1040G>T c.676G>T (p.Val226Leu) | gnomAD v4 |
12 | g.121318300C>G | CA386959375 | ANAPC5 | c.1870G>C (p.Val624Leu) c.1534G>C (p.Val512Leu) n.2602G>C c.868G>C (p.Val290Leu) n.2081G>C c.1194G>C c.1831G>C (p.Val611Leu) n.988G>C n.1040G>C c.676G>C (p.Val226Leu) | |
12 | g.121318300C>T | CA386959380 | ANAPC5 | c.1870G>A (p.Val624Met) c.1534G>A (p.Val512Met) n.2602G>A c.868G>A (p.Val290Met) n.2081G>A c.1194G>A c.1831G>A (p.Val611Met) n.988G>A n.1040G>A c.676G>A (p.Val226Met) | |
12 | g.121318301T>A | CA482430256 | ANAPC5 | c.1869A>T (p.Thr623=) c.1533A>T (p.Thr511=) n.2601A>T c.867A>T (p.Thr289=) n.2080A>T c.1193A>T c.1830A>T (p.Thr610=) n.987A>T n.1039A>T c.675A>T (p.Thr225=) | dbSNP |
12 | g.121318301T>C | CA482430255 | ANAPC5 | c.1869A>G (p.Thr623=) c.1533A>G (p.Thr511=) n.2601A>G c.867A>G (p.Thr289=) n.2080A>G c.1193A>G c.1830A>G (p.Thr610=) n.987A>G n.1039A>G c.675A>G (p.Thr225=) | |
12 | g.121318301T>G | CA6835150 | ANAPC5 | c.1869A>C (p.Thr623=) c.1533A>C (p.Thr511=) n.2601A>C c.867A>C (p.Thr289=) n.2080A>C c.1193A>C c.1830A>C (p.Thr610=) n.987A>C n.1039A>C c.675A>C (p.Thr225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318301T= | CA2067835233 | ANAPC5 | c.1869A= (p.Thr623=) c.1533A= (p.Thr511=) n.2601A= c.867A= (p.Thr289=) n.2080A= c.1193A= c.1830A= (p.Thr610=) n.987A= n.1039A= c.675A= (p.Thr225=) | |
12 | g.121318302G>A | CA386959388 | ANAPC5 | c.1868C>T (p.Thr623Ile) c.1532C>T (p.Thr511Ile) n.2600C>T c.866C>T (p.Thr289Ile) n.2079C>T c.1192C>T c.1829C>T (p.Thr610Ile) n.986C>T n.1038C>T c.674C>T (p.Thr225Ile) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121318302G>C | CA386959390 | ANAPC5 | c.1868C>G (p.Thr623Arg) c.1532C>G (p.Thr511Arg) n.2600C>G c.866C>G (p.Thr289Arg) n.2079C>G c.1192C>G c.1829C>G (p.Thr610Arg) n.986C>G n.1038C>G c.674C>G (p.Thr225Arg) | dbSNP |
12 | g.121318302G= | CA2067835235 | ANAPC5 | c.1868C= (p.Thr623=) c.1532C= (p.Thr511=) n.2600C= c.866C= (p.Thr289=) n.2079C= c.1192C= c.1829C= (p.Thr610=) n.986C= n.1038C= c.674C= (p.Thr225=) | |
12 | g.121318302G>T | CA386959392 | ANAPC5 | c.1868C>A (p.Thr623Lys) c.1532C>A (p.Thr511Lys) n.2600C>A c.866C>A (p.Thr289Lys) n.2079C>A c.1192C>A c.1829C>A (p.Thr610Lys) n.986C>A n.1038C>A c.674C>A (p.Thr225Lys) | |
12 | g.121318303T>A | CA386959393 | ANAPC5 | c.1867A>T (p.Thr623Ser) c.1531A>T (p.Thr511Ser) n.2599A>T c.865A>T (p.Thr289Ser) n.2078A>T c.1191A>T c.1828A>T (p.Thr610Ser) n.985A>T n.1037A>T c.673A>T (p.Thr225Ser) | |
12 | g.121318303T>C | CA386959395 | ANAPC5 | c.1867A>G (p.Thr623Ala) c.1531A>G (p.Thr511Ala) n.2599A>G c.865A>G (p.Thr289Ala) n.2078A>G c.1191A>G c.1828A>G (p.Thr610Ala) n.985A>G n.1037A>G c.673A>G (p.Thr225Ala) | |
12 | g.121318303T>G | CA386959396 | ANAPC5 | c.1867A>C (p.Thr623Pro) c.1531A>C (p.Thr511Pro) n.2599A>C c.865A>C (p.Thr289Pro) n.2078A>C c.1191A>C c.1828A>C (p.Thr610Pro) n.985A>C n.1037A>C c.673A>C (p.Thr225Pro) | |
12 | g.121318304T>A | CA386959404 | ANAPC5 | c.1866A>T (p.Glu622Asp) c.1530A>T (p.Glu510Asp) n.2598A>T c.864A>T (p.Glu288Asp) n.2077A>T c.1190A>T c.1827A>T (p.Glu609Asp) n.984A>T n.1036A>T c.672A>T (p.Glu224Asp) | |
12 | g.121318304T>C | CA482430257 | ANAPC5 | c.1866A>G (p.Glu622=) c.1530A>G (p.Glu510=) n.2598A>G c.864A>G (p.Glu288=) n.2077A>G c.1190A>G c.1827A>G (p.Glu609=) n.984A>G n.1036A>G c.672A>G (p.Glu224=) | gnomAD v4 |
12 | g.121318304T>G | CA386959407 | ANAPC5 | c.1866A>C (p.Glu622Asp) c.1530A>C (p.Glu510Asp) n.2598A>C c.864A>C (p.Glu288Asp) n.2077A>C c.1190A>C c.1827A>C (p.Glu609Asp) n.984A>C n.1036A>C c.672A>C (p.Glu224Asp) | gnomAD v4 |
12 | g.121318305T>A | CA386959426 | ANAPC5 | c.1865A>T (p.Glu622Val) c.1529A>T (p.Glu510Val) n.2597A>T c.863A>T (p.Glu288Val) n.2076A>T c.1189A>T c.1826A>T (p.Glu609Val) n.983A>T n.1035A>T c.671A>T (p.Glu224Val) | |
12 | g.121318305T>C | CA386959417 | ANAPC5 | c.1865A>G (p.Glu622Gly) c.1529A>G (p.Glu510Gly) n.2597A>G c.863A>G (p.Glu288Gly) n.2076A>G c.1189A>G c.1826A>G (p.Glu609Gly) n.983A>G n.1035A>G c.671A>G (p.Glu224Gly) | |
12 | g.121318305T>G | CA386959414 | ANAPC5 | c.1865A>C (p.Glu622Ala) c.1529A>C (p.Glu510Ala) n.2597A>C c.863A>C (p.Glu288Ala) n.2076A>C c.1189A>C c.1826A>C (p.Glu609Ala) n.983A>C n.1035A>C c.671A>C (p.Glu224Ala) | |
12 | g.121318306C>A | CA386959431 | ANAPC5 | c.1864G>T (p.Glu622Ter) c.1528G>T (p.Glu510Ter) n.2596G>T c.862G>T (p.Glu288Ter) n.2075G>T c.1188G>T c.1825G>T (p.Glu609Ter) n.982G>T n.1034G>T c.670G>T (p.Glu224Ter) | gnomAD v4 |
12 | g.121318306C>G | CA386959428 | ANAPC5 | c.1864G>C (p.Glu622Gln) c.1528G>C (p.Glu510Gln) n.2596G>C c.862G>C (p.Glu288Gln) n.2075G>C c.1188G>C c.1825G>C (p.Glu609Gln) n.982G>C n.1034G>C c.670G>C (p.Glu224Gln) | |
12 | g.121318306C>T | CA386959433 | ANAPC5 | c.1864G>A (p.Glu622Lys) c.1528G>A (p.Glu510Lys) n.2596G>A c.862G>A (p.Glu288Lys) n.2075G>A c.1188G>A c.1825G>A (p.Glu609Lys) n.982G>A n.1034G>A c.670G>A (p.Glu224Lys) | |
12 | g.121318307A>C | CA482430258 | ANAPC5 | c.1863T>G (p.Ser621=) c.1527T>G (p.Ser509=) n.2595T>G c.861T>G (p.Ser287=) n.2074T>G c.1187T>G c.1824T>G (p.Ser608=) n.981T>G n.1033T>G c.669T>G (p.Ser223=) | |
12 | g.121318307A>G | CA482430259 | ANAPC5 | c.1863T>C (p.Ser621=) c.1527T>C (p.Ser509=) n.2595T>C c.861T>C (p.Ser287=) n.2074T>C c.1187T>C c.1824T>C (p.Ser608=) n.981T>C n.1033T>C c.669T>C (p.Ser223=) | gnomAD v4 |
12 | g.121318307A>T | CA482430260 | ANAPC5 | c.1863T>A (p.Ser621=) c.1527T>A (p.Ser509=) n.2595T>A c.861T>A (p.Ser287=) n.2074T>A c.1187T>A c.1824T>A (p.Ser608=) n.981T>A n.1033T>A c.669T>A (p.Ser223=) | |
12 | g.121318308G>A | CA386959435 | ANAPC5 | c.1862C>T (p.Ser621Phe) c.1526C>T (p.Ser509Phe) n.2594C>T c.860C>T (p.Ser287Phe) n.2073C>T c.1186C>T c.1823C>T (p.Ser608Phe) n.980C>T n.1032C>T c.668C>T (p.Ser223Phe) | |
12 | g.121318308G>C | CA386959437 | ANAPC5 | c.1862C>G (p.Ser621Cys) c.1526C>G (p.Ser509Cys) n.2594C>G c.860C>G (p.Ser287Cys) n.2073C>G c.1186C>G c.1823C>G (p.Ser608Cys) n.980C>G n.1032C>G c.668C>G (p.Ser223Cys) | |
12 | g.121318308G>T | CA386959445 | ANAPC5 | c.1862C>A (p.Ser621Tyr) c.1526C>A (p.Ser509Tyr) n.2594C>A c.860C>A (p.Ser287Tyr) n.2073C>A c.1186C>A c.1823C>A (p.Ser608Tyr) n.980C>A n.1032C>A c.668C>A (p.Ser223Tyr) | |
12 | g.121318309A>C | CA386959450 | ANAPC5 | c.1861T>G (p.Ser621Ala) c.1525T>G (p.Ser509Ala) n.2593T>G c.859T>G (p.Ser287Ala) n.2072T>G c.1185T>G c.1822T>G (p.Ser608Ala) n.979T>G n.1031T>G c.667T>G (p.Ser223Ala) | |
12 | g.121318309A>G | CA386959455 | ANAPC5 | c.1861T>C (p.Ser621Pro) c.1525T>C (p.Ser509Pro) n.2593T>C c.859T>C (p.Ser287Pro) n.2072T>C c.1185T>C c.1822T>C (p.Ser608Pro) n.979T>C n.1031T>C c.667T>C (p.Ser223Pro) | gnomAD v4 |
12 | g.121318309A>T | CA386959463 | ANAPC5 | c.1861T>A (p.Ser621Thr) c.1525T>A (p.Ser509Thr) n.2593T>A c.859T>A (p.Ser287Thr) n.2072T>A c.1185T>A c.1822T>A (p.Ser608Thr) n.979T>A n.1031T>A c.667T>A (p.Ser223Thr) | gnomAD v4 |
12 | g.121318310G>A | CA244574701 | ANAPC5 | c.1860C>T (p.Ala620=) c.1524C>T (p.Ala508=) n.2592C>T c.858C>T (p.Ala286=) n.2071C>T c.1184C>T c.1821C>T (p.Ala607=) n.978C>T n.1030C>T c.666C>T (p.Ala222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318310G>C | CA482430261 | ANAPC5 | c.1860C>G (p.Ala620=) c.1524C>G (p.Ala508=) n.2592C>G c.858C>G (p.Ala286=) n.2071C>G c.1184C>G c.1821C>G (p.Ala607=) n.978C>G n.1030C>G c.666C>G (p.Ala222=) | |
12 | g.121318310G= | CA2067835240 | ANAPC5 | c.1860C= (p.Ala620=) c.1524C= (p.Ala508=) n.2592C= c.858C= (p.Ala286=) n.2071C= c.1184C= c.1821C= (p.Ala607=) n.978C= n.1030C= c.666C= (p.Ala222=) | |
12 | g.121318310G>T | CA482430262 | ANAPC5 | c.1860C>A (p.Ala620=) c.1524C>A (p.Ala508=) n.2592C>A c.858C>A (p.Ala286=) n.2071C>A c.1184C>A c.1821C>A (p.Ala607=) n.978C>A n.1030C>A c.666C>A (p.Ala222=) | |
12 | g.121318311G>A | CA386959484 | ANAPC5 | c.1859C>T (p.Ala620Val) c.1523C>T (p.Ala508Val) n.2591C>T c.857C>T (p.Ala286Val) n.2070C>T c.1183C>T c.1820C>T (p.Ala607Val) n.977C>T n.1029C>T c.665C>T (p.Ala222Val) | gnomAD v4 |
12 | g.121318311G>C | CA386959468 | ANAPC5 | c.1859C>G (p.Ala620Gly) c.1523C>G (p.Ala508Gly) n.2591C>G c.857C>G (p.Ala286Gly) n.2070C>G c.1183C>G c.1820C>G (p.Ala607Gly) n.977C>G n.1029C>G c.665C>G (p.Ala222Gly) | |
12 | g.121318311G>T | CA386959481 | ANAPC5 | c.1859C>A (p.Ala620Asp) c.1523C>A (p.Ala508Asp) n.2591C>A c.857C>A (p.Ala286Asp) n.2070C>A c.1183C>A c.1820C>A (p.Ala607Asp) n.977C>A n.1029C>A c.665C>A (p.Ala222Asp) | gnomAD v4 |
12 | g.121318312C>A | CA386959486 | ANAPC5 | c.1858G>T (p.Ala620Ser) c.1522G>T (p.Ala508Ser) n.2590G>T c.856G>T (p.Ala286Ser) n.2069G>T c.1182G>T c.1819G>T (p.Ala607Ser) n.976G>T n.1028G>T c.664G>T (p.Ala222Ser) | gnomAD v4 |
12 | g.121318312C>G | CA386959489 | ANAPC5 | c.1858G>C (p.Ala620Pro) c.1522G>C (p.Ala508Pro) n.2590G>C c.856G>C (p.Ala286Pro) n.2069G>C c.1182G>C c.1819G>C (p.Ala607Pro) n.976G>C n.1028G>C c.664G>C (p.Ala222Pro) | |
12 | g.121318312C>T | CA386959498 | ANAPC5 | c.1858G>A (p.Ala620Thr) c.1522G>A (p.Ala508Thr) n.2590G>A c.856G>A (p.Ala286Thr) n.2069G>A c.1182G>A c.1819G>A (p.Ala607Thr) n.976G>A n.1028G>A c.664G>A (p.Ala222Thr) | gnomAD v4 |
12 | g.121318313C>A | CA386959500 | ANAPC5 | c.1857G>T (p.Leu619Phe) c.1521G>T (p.Leu507Phe) n.2589G>T c.855G>T (p.Leu285Phe) n.2068G>T c.1181G>T c.1818G>T (p.Leu606Phe) n.975G>T n.1027G>T c.663G>T (p.Leu221Phe) | gnomAD v4 |
12 | g.121318313C>G | CA386959503 | ANAPC5 | c.1857G>C (p.Leu619Phe) c.1521G>C (p.Leu507Phe) n.2589G>C c.855G>C (p.Leu285Phe) n.2068G>C c.1181G>C c.1818G>C (p.Leu606Phe) n.975G>C n.1027G>C c.663G>C (p.Leu221Phe) | |
12 | g.121318313C>T | CA482430263 | ANAPC5 | c.1857G>A (p.Leu619=) c.1521G>A (p.Leu507=) n.2589G>A c.855G>A (p.Leu285=) n.2068G>A c.1181G>A c.1818G>A (p.Leu606=) n.975G>A n.1027G>A c.663G>A (p.Leu221=) | |
12 | g.121318314A>C | CA386959507 | ANAPC5 | c.1856T>G (p.Leu619Trp) c.1520T>G (p.Leu507Trp) n.2588T>G c.854T>G (p.Leu285Trp) n.2067T>G c.1180T>G c.1817T>G (p.Leu606Trp) n.974T>G n.1026T>G c.662T>G (p.Leu221Trp) | |
12 | g.121318314A>G | CA386959515 | ANAPC5 | c.1856T>C (p.Leu619Ser) c.1520T>C (p.Leu507Ser) n.2588T>C c.854T>C (p.Leu285Ser) n.2067T>C c.1180T>C c.1817T>C (p.Leu606Ser) n.974T>C n.1026T>C c.662T>C (p.Leu221Ser) | |
12 | g.121318314A>T | CA386959511 | ANAPC5 | c.1856T>A (p.Leu619Ter) c.1520T>A (p.Leu507Ter) n.2588T>A c.854T>A (p.Leu285Ter) n.2067T>A c.1180T>A c.1817T>A (p.Leu606Ter) n.974T>A n.1026T>A c.662T>A (p.Leu221Ter) | |
12 | g.121318315A>C | CA386959516 | ANAPC5 | c.1855T>G (p.Leu619Val) c.1519T>G (p.Leu507Val) n.2587T>G c.853T>G (p.Leu285Val) n.2066T>G c.1179T>G c.1816T>G (p.Leu606Val) n.973T>G n.1025T>G c.661T>G (p.Leu221Val) | |
12 | g.121318315A>G | CA482430264 | ANAPC5 | c.1855T>C (p.Leu619=) c.1519T>C (p.Leu507=) n.2587T>C c.853T>C (p.Leu285=) n.2066T>C c.1179T>C c.1816T>C (p.Leu606=) n.973T>C n.1025T>C c.661T>C (p.Leu221=) | gnomAD v4 |
12 | g.121318315A>T | CA386959518 | ANAPC5 | c.1855T>A (p.Leu619Met) c.1519T>A (p.Leu507Met) n.2587T>A c.853T>A (p.Leu285Met) n.2066T>A c.1179T>A c.1816T>A (p.Leu606Met) n.973T>A n.1025T>A c.661T>A (p.Leu221Met) | |
12 | g.121318316G>A | CA482430265 | ANAPC5 | c.1854C>T (p.Tyr618=) c.1518C>T (p.Tyr506=) n.2586C>T c.852C>T (p.Tyr284=) n.2065C>T c.1178C>T c.1815C>T (p.Tyr605=) n.972C>T n.1024C>T c.660C>T (p.Tyr220=) | gnomAD v4 |
12 | g.121318316G>C | CA386959520 | ANAPC5 | c.1854C>G (p.Tyr618Ter) c.1518C>G (p.Tyr506Ter) n.2586C>G c.852C>G (p.Tyr284Ter) n.2065C>G c.1178C>G c.1815C>G (p.Tyr605Ter) n.972C>G n.1024C>G c.660C>G (p.Tyr220Ter) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121318316G= | CA2067835246 | ANAPC5 | c.1854C= (p.Tyr618=) c.1518C= (p.Tyr506=) n.2586C= c.852C= (p.Tyr284=) n.2065C= c.1178C= c.1815C= (p.Tyr605=) n.972C= n.1024C= c.660C= (p.Tyr220=) | |
12 | g.121318316G>T | CA386959526 | ANAPC5 | c.1854C>A (p.Tyr618Ter) c.1518C>A (p.Tyr506Ter) n.2586C>A c.852C>A (p.Tyr284Ter) n.2065C>A c.1178C>A c.1815C>A (p.Tyr605Ter) n.972C>A n.1024C>A c.660C>A (p.Tyr220Ter) | |
12 | g.121318317T>A | CA386959533 | ANAPC5 | c.1853A>T (p.Tyr618Phe) c.1517A>T (p.Tyr506Phe) n.2585A>T c.851A>T (p.Tyr284Phe) n.2064A>T c.1177A>T c.1814A>T (p.Tyr605Phe) n.971A>T n.1023A>T c.659A>T (p.Tyr220Phe) | |
12 | g.121318317T>C | CA386959534 | ANAPC5 | c.1853A>G (p.Tyr618Cys) c.1517A>G (p.Tyr506Cys) n.2585A>G c.851A>G (p.Tyr284Cys) n.2064A>G c.1177A>G c.1814A>G (p.Tyr605Cys) n.971A>G n.1023A>G c.659A>G (p.Tyr220Cys) | |
12 | g.121318317T>G | CA386959536 | ANAPC5 | c.1853A>C (p.Tyr618Ser) c.1517A>C (p.Tyr506Ser) n.2585A>C c.851A>C (p.Tyr284Ser) n.2064A>C c.1177A>C c.1814A>C (p.Tyr605Ser) n.971A>C n.1023A>C c.659A>C (p.Tyr220Ser) | |
12 | g.121318318A>C | CA386959537 | ANAPC5 | c.1852T>G (p.Tyr618Asp) c.1516T>G (p.Tyr506Asp) n.2584T>G c.850T>G (p.Tyr284Asp) n.2063T>G c.1176T>G c.1813T>G (p.Tyr605Asp) n.970T>G n.1022T>G c.658T>G (p.Tyr220Asp) | gnomAD v4 |
12 | g.121318318A>G | CA386959538 | ANAPC5 | c.1852T>C (p.Tyr618His) c.1516T>C (p.Tyr506His) n.2584T>C c.850T>C (p.Tyr284His) n.2063T>C c.1176T>C c.1813T>C (p.Tyr605His) n.970T>C n.1022T>C c.658T>C (p.Tyr220His) | |
12 | g.121318318A>T | CA386959539 | ANAPC5 | c.1852T>A (p.Tyr618Asn) c.1516T>A (p.Tyr506Asn) n.2584T>A c.850T>A (p.Tyr284Asn) n.2063T>A c.1176T>A c.1813T>A (p.Tyr605Asn) n.970T>A n.1022T>A c.658T>A (p.Tyr220Asn) | |
12 | g.121318319C>A | CA386959549 | ANAPC5 | c.1851G>T (p.Gln617His) c.1515G>T (p.Gln505His) n.2583G>T c.849G>T (p.Gln283His) n.2062G>T c.1175G>T c.1812G>T (p.Gln604His) n.969G>T n.1021G>T c.657G>T (p.Gln219His) | gnomAD v4 COSMIC |
12 | g.121318319C= | CA2067835251 | ANAPC5 | c.1851G= (p.Gln617=) c.1515G= (p.Gln505=) n.2583G= c.849G= (p.Gln283=) n.2062G= c.1175G= c.1812G= (p.Gln604=) n.969G= n.1021G= c.657G= (p.Gln219=) | |
12 | g.121318319C>G | CA386959543 | ANAPC5 | c.1851G>C (p.Gln617His) c.1515G>C (p.Gln505His) n.2583G>C c.849G>C (p.Gln283His) n.2062G>C c.1175G>C c.1812G>C (p.Gln604His) n.969G>C n.1021G>C c.657G>C (p.Gln219His) | |
12 | g.121318319C>T | CA6835151 | ANAPC5 | c.1851G>A (p.Gln617=) c.1515G>A (p.Gln505=) n.2583G>A c.849G>A (p.Gln283=) n.2062G>A c.1175G>A c.1812G>A (p.Gln604=) n.969G>A n.1021G>A c.657G>A (p.Gln219=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318320T>A | CA386959557 | ANAPC5 | c.1850A>T (p.Gln617Leu) c.1514A>T (p.Gln505Leu) n.2582A>T c.848A>T (p.Gln283Leu) n.2061A>T c.1174A>T c.1811A>T (p.Gln604Leu) n.968A>T n.1020A>T c.656A>T (p.Gln219Leu) | |
12 | g.121318320T>C | CA386959560 | ANAPC5 | c.1850A>G (p.Gln617Arg) c.1514A>G (p.Gln505Arg) n.2582A>G c.848A>G (p.Gln283Arg) n.2061A>G c.1174A>G c.1811A>G (p.Gln604Arg) n.968A>G n.1020A>G c.656A>G (p.Gln219Arg) | gnomAD v4 |
12 | g.121318320T>G | CA386959573 | ANAPC5 | c.1850A>C (p.Gln617Pro) c.1514A>C (p.Gln505Pro) n.2582A>C c.848A>C (p.Gln283Pro) n.2061A>C c.1174A>C c.1811A>C (p.Gln604Pro) n.968A>C n.1020A>C c.656A>C (p.Gln219Pro) | |
12 | g.121318321G>A | CA386959575 | ANAPC5 | c.1849C>T (p.Gln617Ter) c.1513C>T (p.Gln505Ter) n.2581C>T c.847C>T (p.Gln283Ter) n.2060C>T c.1173C>T c.1810C>T (p.Gln604Ter) n.967C>T n.1019C>T c.655C>T (p.Gln219Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318321G>C | CA386959576 | ANAPC5 | c.1849C>G (p.Gln617Glu) c.1513C>G (p.Gln505Glu) n.2581C>G c.847C>G (p.Gln283Glu) n.2060C>G c.1173C>G c.1810C>G (p.Gln604Glu) n.967C>G n.1019C>G c.655C>G (p.Gln219Glu) | |
12 | g.121318321G= | CA2067835256 | ANAPC5 | c.1849C= (p.Gln617=) c.1513C= (p.Gln505=) n.2581C= c.847C= (p.Gln283=) n.2060C= c.1173C= c.1810C= (p.Gln604=) n.967C= n.1019C= c.655C= (p.Gln219=) | |
12 | g.121318321G>T | CA386959577 | ANAPC5 | c.1849C>A (p.Gln617Lys) c.1513C>A (p.Gln505Lys) n.2581C>A c.847C>A (p.Gln283Lys) n.2060C>A c.1173C>A c.1810C>A (p.Gln604Lys) n.967C>A n.1019C>A c.655C>A (p.Gln219Lys) | |
12 | g.121318322T>A | CA386959580 | ANAPC5 | c.1848A>T (p.Leu616Phe) c.1512A>T (p.Leu504Phe) n.2580A>T c.846A>T (p.Leu282Phe) n.2059A>T c.1172A>T c.1809A>T (p.Leu603Phe) n.966A>T n.1018A>T c.654A>T (p.Leu218Phe) | |
12 | g.121318322T>C | CA482430266 | ANAPC5 | c.1848A>G (p.Leu616=) c.1512A>G (p.Leu504=) n.2580A>G c.846A>G (p.Leu282=) n.2059A>G c.1172A>G c.1809A>G (p.Leu603=) n.966A>G n.1018A>G c.654A>G (p.Leu218=) | gnomAD v4 |
12 | g.121318322T>G | CA386959583 | ANAPC5 | c.1848A>C (p.Leu616Phe) c.1512A>C (p.Leu504Phe) n.2580A>C c.846A>C (p.Leu282Phe) n.2059A>C c.1172A>C c.1809A>C (p.Leu603Phe) n.966A>C n.1018A>C c.654A>C (p.Leu218Phe) | |
12 | g.121318323A>C | CA386959587 | ANAPC5 | c.1847T>G (p.Leu616Ter) c.1511T>G (p.Leu504Ter) n.2579T>G c.845T>G (p.Leu282Ter) n.2058T>G c.1171T>G c.1808T>G (p.Leu603Ter) n.965T>G n.1017T>G c.653T>G (p.Leu218Ter) | |
12 | g.121318323A>G | CA386959592 | ANAPC5 | c.1847T>C (p.Leu616Ser) c.1511T>C (p.Leu504Ser) n.2579T>C c.845T>C (p.Leu282Ser) n.2058T>C c.1171T>C c.1808T>C (p.Leu603Ser) n.965T>C n.1017T>C c.653T>C (p.Leu218Ser) | |
12 | g.121318323A>T | CA386959601 | ANAPC5 | c.1847T>A (p.Leu616Ter) c.1511T>A (p.Leu504Ter) n.2579T>A c.845T>A (p.Leu282Ter) n.2058T>A c.1171T>A c.1808T>A (p.Leu603Ter) n.965T>A n.1017T>A c.653T>A (p.Leu218Ter) | |
12 | g.121318324A>C | CA386959607 | ANAPC5 | c.1846T>G (p.Leu616Val) c.1510T>G (p.Leu504Val) n.2578T>G c.844T>G (p.Leu282Val) n.2057T>G c.1170T>G c.1807T>G (p.Leu603Val) n.964T>G n.1016T>G c.652T>G (p.Leu218Val) | |
12 | g.121318324A>G | CA482430267 | ANAPC5 | c.1846T>C (p.Leu616=) c.1510T>C (p.Leu504=) n.2578T>C c.844T>C (p.Leu282=) n.2057T>C c.1170T>C c.1807T>C (p.Leu603=) n.964T>C n.1016T>C c.652T>C (p.Leu218=) | |
12 | g.121318324A>T | CA386959620 | ANAPC5 | c.1846T>A (p.Leu616Ile) c.1510T>A (p.Leu504Ile) n.2578T>A c.844T>A (p.Leu282Ile) n.2057T>A c.1170T>A c.1807T>A (p.Leu603Ile) n.964T>A n.1016T>A c.652T>A (p.Leu218Ile) | |
12 | g.121318325C>A | CA482430268 | ANAPC5 | c.1845G>T (p.Arg615=) c.1509G>T (p.Arg503=) n.2577G>T c.843G>T (p.Arg281=) n.2056G>T c.1169G>T c.1806G>T (p.Arg602=) n.963G>T n.1015G>T c.651G>T (p.Arg217=) | |
12 | g.121318325C= | CA2067835261 | ANAPC5 | c.1845G= (p.Arg615=) c.1509G= (p.Arg503=) n.2577G= c.843G= (p.Arg281=) n.2056G= c.1169G= c.1806G= (p.Arg602=) n.963G= n.1015G= c.651G= (p.Arg217=) | |
12 | g.121318325C>G | CA482430269 | ANAPC5 | c.1845G>C (p.Arg615=) c.1509G>C (p.Arg503=) n.2577G>C c.843G>C (p.Arg281=) n.2056G>C c.1169G>C c.1806G>C (p.Arg602=) n.963G>C n.1015G>C c.651G>C (p.Arg217=) | gnomAD v4 |
12 | g.121318325C>T | CA482430270 | ANAPC5 | c.1845G>A (p.Arg615=) c.1509G>A (p.Arg503=) n.2577G>A c.843G>A (p.Arg281=) n.2056G>A c.1169G>A c.1806G>A (p.Arg602=) n.963G>A n.1015G>A c.651G>A (p.Arg217=) | dbSNP |
12 | g.121318326C>A | CA386959629 | ANAPC5 | c.1844G>T (p.Arg615Leu) c.1508G>T (p.Arg503Leu) n.2576G>T c.842G>T (p.Arg281Leu) n.2055G>T c.1168G>T c.1805G>T (p.Arg602Leu) n.962G>T n.1014G>T c.650G>T (p.Arg217Leu) | gnomAD v4 |
12 | g.121318326C= | CA2067835267 | ANAPC5 | c.1844G= (p.Arg615=) c.1508G= (p.Arg503=) n.2576G= c.842G= (p.Arg281=) n.2055G= c.1168G= c.1805G= (p.Arg602=) n.962G= n.1014G= c.650G= (p.Arg217=) | |
12 | g.121318326C>G | CA386959623 | ANAPC5 | c.1844G>C (p.Arg615Pro) c.1508G>C (p.Arg503Pro) n.2576G>C c.842G>C (p.Arg281Pro) n.2055G>C c.1168G>C c.1805G>C (p.Arg602Pro) n.962G>C n.1014G>C c.650G>C (p.Arg217Pro) | |
12 | g.121318326C>T | CA386959627 | ANAPC5 | c.1844G>A (p.Arg615Gln) c.1508G>A (p.Arg503Gln) n.2576G>A c.842G>A (p.Arg281Gln) n.2055G>A c.1168G>A c.1805G>A (p.Arg602Gln) n.962G>A n.1014G>A c.650G>A (p.Arg217Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318327G>A | CA6835152 | ANAPC5 | c.1843C>T (p.Arg615Trp) c.1507C>T (p.Arg503Trp) n.2575C>T c.841C>T (p.Arg281Trp) n.2054C>T c.1167C>T c.1804C>T (p.Arg602Trp) n.961C>T n.1013C>T c.649C>T (p.Arg217Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318327G>C | CA386959641 | ANAPC5 | c.1843C>G (p.Arg615Gly) c.1507C>G (p.Arg503Gly) n.2575C>G c.841C>G (p.Arg281Gly) n.2054C>G c.1167C>G c.1804C>G (p.Arg602Gly) n.961C>G n.1013C>G c.649C>G (p.Arg217Gly) | |
12 | g.121318327G= | CA2067835269 | ANAPC5 | c.1843C= (p.Arg615=) c.1507C= (p.Arg503=) n.2575C= c.841C= (p.Arg281=) n.2054C= c.1167C= c.1804C= (p.Arg602=) n.961C= n.1013C= c.649C= (p.Arg217=) | |
12 | g.121318327G>T | CA482430271 | ANAPC5 | c.1843C>A (p.Arg615=) c.1507C>A (p.Arg503=) n.2575C>A c.841C>A (p.Arg281=) n.2054C>A c.1167C>A c.1804C>A (p.Arg602=) n.961C>A n.1013C>A c.649C>A (p.Arg217=) | |
12 | g.121318328G>A | CA6835153 | ANAPC5 | c.1842C>T (p.Tyr614=) c.1506C>T (p.Tyr502=) n.2574C>T c.840C>T (p.Tyr280=) n.2053C>T c.1166C>T c.1803C>T (p.Tyr601=) n.960C>T n.1012C>T c.648C>T (p.Tyr216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318328G>C | CA386959645 | ANAPC5 | c.1842C>G (p.Tyr614Ter) c.1506C>G (p.Tyr502Ter) n.2574C>G c.840C>G (p.Tyr280Ter) n.2053C>G c.1166C>G c.1803C>G (p.Tyr601Ter) n.960C>G n.1012C>G c.648C>G (p.Tyr216Ter) | gnomAD v4 |
12 | g.121318328G= | CA2067835273 | ANAPC5 | c.1842C= (p.Tyr614=) c.1506C= (p.Tyr502=) n.2574C= c.840C= (p.Tyr280=) n.2053C= c.1166C= c.1803C= (p.Tyr601=) n.960C= n.1012C= c.648C= (p.Tyr216=) | |
12 | g.121318328G>T | CA386959648 | ANAPC5 | c.1842C>A (p.Tyr614Ter) c.1506C>A (p.Tyr502Ter) n.2574C>A c.840C>A (p.Tyr280Ter) n.2053C>A c.1166C>A c.1803C>A (p.Tyr601Ter) n.960C>A n.1012C>A c.648C>A (p.Tyr216Ter) | gnomAD v4 |
12 | g.121318329T>A | CA386959656 | ANAPC5 | c.1841A>T (p.Tyr614Phe) c.1505A>T (p.Tyr502Phe) n.2573A>T c.839A>T (p.Tyr280Phe) n.2052A>T c.1165A>T c.1802A>T (p.Tyr601Phe) n.959A>T n.1011A>T c.647A>T (p.Tyr216Phe) | |
12 | g.121318329T>C | CA386959658 | ANAPC5 | c.1841A>G (p.Tyr614Cys) c.1505A>G (p.Tyr502Cys) n.2573A>G c.839A>G (p.Tyr280Cys) n.2052A>G c.1165A>G c.1802A>G (p.Tyr601Cys) n.959A>G n.1011A>G c.647A>G (p.Tyr216Cys) | |
12 | g.121318329T>G | CA386959661 | ANAPC5 | c.1841A>C (p.Tyr614Ser) c.1505A>C (p.Tyr502Ser) n.2573A>C c.839A>C (p.Tyr280Ser) n.2052A>C c.1165A>C c.1802A>C (p.Tyr601Ser) n.959A>C n.1011A>C c.647A>C (p.Tyr216Ser) | |
12 | g.121318330A>C | CA386959669 | ANAPC5 | c.1840T>G (p.Tyr614Asp) c.1504T>G (p.Tyr502Asp) n.2572T>G c.838T>G (p.Tyr280Asp) n.2051T>G c.1164T>G c.1801T>G (p.Tyr601Asp) n.958T>G n.1010T>G c.646T>G (p.Tyr216Asp) | |
12 | g.121318330A>G | CA386959672 | ANAPC5 | c.1840T>C (p.Tyr614His) c.1504T>C (p.Tyr502His) n.2572T>C c.838T>C (p.Tyr280His) n.2051T>C c.1164T>C c.1801T>C (p.Tyr601His) n.958T>C n.1010T>C c.646T>C (p.Tyr216His) | |
12 | g.121318330A>T | CA386959677 | ANAPC5 | c.1840T>A (p.Tyr614Asn) c.1504T>A (p.Tyr502Asn) n.2572T>A c.838T>A (p.Tyr280Asn) n.2051T>A c.1164T>A c.1801T>A (p.Tyr601Asn) n.958T>A n.1010T>A c.646T>A (p.Tyr216Asn) | |
12 | g.121318331C>A | CA386959679 | ANAPC5 | c.1839G>T (p.Glu613Asp) c.1503G>T (p.Glu501Asp) n.2571G>T c.837G>T (p.Glu279Asp) n.2050G>T c.1163G>T c.1800G>T (p.Glu600Asp) n.957G>T n.1009G>T c.645G>T (p.Glu215Asp) | |
12 | g.121318331C= | CA2067835277 | ANAPC5 | c.1839G= (p.Glu613=) c.1503G= (p.Glu501=) n.2571G= c.837G= (p.Glu279=) n.2050G= c.1163G= c.1800G= (p.Glu600=) n.957G= n.1009G= c.645G= (p.Glu215=) | |
12 | g.121318331C>G | CA386959680 | ANAPC5 | c.1839G>C (p.Glu613Asp) c.1503G>C (p.Glu501Asp) n.2571G>C c.837G>C (p.Glu279Asp) n.2050G>C c.1163G>C c.1800G>C (p.Glu600Asp) n.957G>C n.1009G>C c.645G>C (p.Glu215Asp) | |
12 | g.121318331C>T | CA482430272 | ANAPC5 | c.1839G>A (p.Glu613=) c.1503G>A (p.Glu501=) n.2571G>A c.837G>A (p.Glu279=) n.2050G>A c.1163G>A c.1800G>A (p.Glu600=) n.957G>A n.1009G>A c.645G>A (p.Glu215=) | dbSNP gnomAD v4 |
12 | g.121318332T>A | CA386959682 | ANAPC5 | c.1838A>T (p.Glu613Val) c.1502A>T (p.Glu501Val) n.2570A>T c.836A>T (p.Glu279Val) n.2049A>T c.1162A>T c.1799A>T (p.Glu600Val) n.956A>T n.1008A>T c.644A>T (p.Glu215Val) | |
12 | g.121318332T>C | CA386959683 | ANAPC5 | c.1838A>G (p.Glu613Gly) c.1502A>G (p.Glu501Gly) n.2570A>G c.836A>G (p.Glu279Gly) n.2049A>G c.1162A>G c.1799A>G (p.Glu600Gly) n.956A>G n.1008A>G c.644A>G (p.Glu215Gly) | |
12 | g.121318332T>G | CA386959681 | ANAPC5 | c.1838A>C (p.Glu613Ala) c.1502A>C (p.Glu501Ala) n.2570A>C c.836A>C (p.Glu279Ala) n.2049A>C c.1162A>C c.1799A>C (p.Glu600Ala) n.956A>C n.1008A>C c.644A>C (p.Glu215Ala) | |
12 | g.121318333C>A | CA386959686 | ANAPC5 | c.1837G>T (p.Glu613Ter) c.1501G>T (p.Glu501Ter) n.2569G>T c.835G>T (p.Glu279Ter) n.2048G>T c.1161G>T c.1798G>T (p.Glu600Ter) n.955G>T n.1007G>T c.643G>T (p.Glu215Ter) | |
12 | g.121318333C= | CA2067835280 | ANAPC5 | c.1837G= (p.Glu613=) c.1501G= (p.Glu501=) n.2569G= c.835G= (p.Glu279=) n.2048G= c.1161G= c.1798G= (p.Glu600=) n.955G= n.1007G= c.643G= (p.Glu215=) | |
12 | g.121318333C>G | CA386959689 | ANAPC5 | c.1837G>C (p.Glu613Gln) c.1501G>C (p.Glu501Gln) n.2569G>C c.835G>C (p.Glu279Gln) n.2048G>C c.1161G>C c.1798G>C (p.Glu600Gln) n.955G>C n.1007G>C c.643G>C (p.Glu215Gln) | |
12 | g.121318333C>T | CA386959692 | ANAPC5 | c.1837G>A (p.Glu613Lys) c.1501G>A (p.Glu501Lys) n.2569G>A c.835G>A (p.Glu279Lys) n.2048G>A c.1161G>A c.1798G>A (p.Glu600Lys) n.955G>A n.1007G>A c.643G>A (p.Glu215Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121318334C>A | CA386959696 | ANAPC5 | c.1836G>T (p.Lys612Asn) c.1500G>T (p.Lys500Asn) n.2568G>T c.834G>T (p.Lys278Asn) n.2047G>T c.1160G>T c.1797G>T (p.Lys599Asn) n.954G>T n.1006G>T c.642G>T (p.Lys214Asn) | |
12 | g.121318334C= | CA2067835281 | ANAPC5 | c.1836G= (p.Lys612=) c.1500G= (p.Lys500=) n.2568G= c.834G= (p.Lys278=) n.2047G= c.1160G= c.1797G= (p.Lys599=) n.954G= n.1006G= c.642G= (p.Lys214=) | |
12 | g.121318334C>G | CA386959699 | ANAPC5 | c.1836G>C (p.Lys612Asn) c.1500G>C (p.Lys500Asn) n.2568G>C c.834G>C (p.Lys278Asn) n.2047G>C c.1160G>C c.1797G>C (p.Lys599Asn) n.954G>C n.1006G>C c.642G>C (p.Lys214Asn) | gnomAD v4 |
12 | g.121318334C>T | CA482430273 | ANAPC5 | c.1836G>A (p.Lys612=) c.1500G>A (p.Lys500=) n.2568G>A c.834G>A (p.Lys278=) n.2047G>A c.1160G>A c.1797G>A (p.Lys599=) n.954G>A n.1006G>A c.642G>A (p.Lys214=) | dbSNP |
12 | g.121318335T>A | CA386959703 | ANAPC5 | c.1835A>T (p.Lys612Met) c.1499A>T (p.Lys500Met) n.2567A>T c.833A>T (p.Lys278Met) n.2046A>T c.1159A>T c.1796A>T (p.Lys599Met) n.953A>T n.1005A>T c.641A>T (p.Lys214Met) | |
12 | g.121318335T>C | CA386959705 | ANAPC5 | c.1835A>G (p.Lys612Arg) c.1499A>G (p.Lys500Arg) n.2567A>G c.833A>G (p.Lys278Arg) n.2046A>G c.1159A>G c.1796A>G (p.Lys599Arg) n.953A>G n.1005A>G c.641A>G (p.Lys214Arg) | dbSNP gnomAD v4 |
12 | g.121318335T>G | CA386959715 | ANAPC5 | c.1835A>C (p.Lys612Thr) c.1499A>C (p.Lys500Thr) n.2567A>C c.833A>C (p.Lys278Thr) n.2046A>C c.1159A>C c.1796A>C (p.Lys599Thr) n.953A>C n.1005A>C c.641A>C (p.Lys214Thr) | |
12 | g.121318335T= | CA2067835285 | ANAPC5 | c.1835A= (p.Lys612=) c.1499A= (p.Lys500=) n.2567A= c.833A= (p.Lys278=) n.2046A= c.1159A= c.1796A= (p.Lys599=) n.953A= n.1005A= c.641A= (p.Lys214=) | |
12 | g.121318336T>A | CA386959719 | ANAPC5 | c.1834A>T (p.Lys612Ter) c.1498A>T (p.Lys500Ter) n.2566A>T c.832A>T (p.Lys278Ter) n.2045A>T c.1158A>T c.1795A>T (p.Lys599Ter) n.952A>T n.1004A>T c.640A>T (p.Lys214Ter) | |
12 | g.121318336T>C | CA244574737 | ANAPC5 | c.1834A>G (p.Lys612Glu) c.1498A>G (p.Lys500Glu) n.2566A>G c.832A>G (p.Lys278Glu) n.2045A>G c.1158A>G c.1795A>G (p.Lys599Glu) n.952A>G n.1004A>G c.640A>G (p.Lys214Glu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121318336T>G | CA386959727 | ANAPC5 | c.1834A>C (p.Lys612Gln) c.1498A>C (p.Lys500Gln) n.2566A>C c.832A>C (p.Lys278Gln) n.2045A>C c.1158A>C c.1795A>C (p.Lys599Gln) n.952A>C n.1004A>C c.640A>C (p.Lys214Gln) | |
12 | g.121318336T= | CA2067835291 | ANAPC5 | c.1834A= (p.Lys612=) c.1498A= (p.Lys500=) n.2566A= c.832A= (p.Lys278=) n.2045A= c.1158A= c.1795A= (p.Lys599=) n.952A= n.1004A= c.640A= (p.Lys214=) | |
12 | g.121318337G>A | CA6835154 | ANAPC5 | c.1833C>T (p.Ser611=) c.1497C>T (p.Ser499=) n.2565C>T c.831C>T (p.Ser277=) n.2044C>T c.1157C>T c.1794C>T (p.Ser598=) n.951C>T n.1003C>T c.639C>T (p.Ser213=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318337G>C | CA482430274 | ANAPC5 | c.1833C>G (p.Ser611=) c.1497C>G (p.Ser499=) n.2565C>G c.831C>G (p.Ser277=) n.2044C>G c.1157C>G c.1794C>G (p.Ser598=) n.951C>G n.1003C>G c.639C>G (p.Ser213=) | |
12 | g.121318337G= | CA2067835301 | ANAPC5 | c.1833C= (p.Ser611=) c.1497C= (p.Ser499=) n.2565C= c.831C= (p.Ser277=) n.2044C= c.1157C= c.1794C= (p.Ser598=) n.951C= n.1003C= c.639C= (p.Ser213=) | |
12 | g.121318337G>T | CA482430275 | ANAPC5 | c.1833C>A (p.Ser611=) c.1497C>A (p.Ser499=) n.2565C>A c.831C>A (p.Ser277=) n.2044C>A c.1157C>A c.1794C>A (p.Ser598=) n.951C>A n.1003C>A c.639C>A (p.Ser213=) | |
12 | g.121318338G>A | CA386959748 | ANAPC5 | c.1832C>T (p.Ser611Phe) c.1496C>T (p.Ser499Phe) n.2564C>T c.830C>T (p.Ser277Phe) n.2043C>T c.1156C>T c.1793C>T (p.Ser598Phe) n.950C>T n.1002C>T c.638C>T (p.Ser213Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.121318338G>C | CA386959758 | ANAPC5 | c.1832C>G (p.Ser611Cys) c.1496C>G (p.Ser499Cys) n.2564C>G c.830C>G (p.Ser277Cys) n.2043C>G c.1156C>G c.1793C>G (p.Ser598Cys) n.950C>G n.1002C>G c.638C>G (p.Ser213Cys) | |
12 | g.121318338G= | CA2067835310 | ANAPC5 | c.1832C= (p.Ser611=) c.1496C= (p.Ser499=) n.2564C= c.830C= (p.Ser277=) n.2043C= c.1156C= c.1793C= (p.Ser598=) n.950C= n.1002C= c.638C= (p.Ser213=) | |
12 | g.121318338G>T | CA386959763 | ANAPC5 | c.1832C>A (p.Ser611Tyr) c.1496C>A (p.Ser499Tyr) n.2564C>A c.830C>A (p.Ser277Tyr) n.2043C>A c.1156C>A c.1793C>A (p.Ser598Tyr) n.950C>A n.1002C>A c.638C>A (p.Ser213Tyr) | |
12 | g.121318339A>C | CA386959787 | ANAPC5 | c.1831T>G (p.Ser611Ala) c.1495T>G (p.Ser499Ala) n.2563T>G c.829T>G (p.Ser277Ala) n.2042T>G c.1155T>G c.1792T>G (p.Ser598Ala) n.949T>G n.1001T>G c.637T>G (p.Ser213Ala) | |
12 | g.121318339A>G | CA386959785 | ANAPC5 | c.1831T>C (p.Ser611Pro) c.1495T>C (p.Ser499Pro) n.2563T>C c.829T>C (p.Ser277Pro) n.2042T>C c.1155T>C c.1792T>C (p.Ser598Pro) n.949T>C n.1001T>C c.637T>C (p.Ser213Pro) | gnomAD v4 |
12 | g.121318339A>T | CA386959786 | ANAPC5 | c.1831T>A (p.Ser611Thr) c.1495T>A (p.Ser499Thr) n.2563T>A c.829T>A (p.Ser277Thr) n.2042T>A c.1155T>A c.1792T>A (p.Ser598Thr) n.949T>A n.1001T>A c.637T>A (p.Ser213Thr) | |
12 | g.121318340G>A | CA482430276 | ANAPC5 | c.1830C>T (p.Leu610=) c.1494C>T (p.Leu498=) n.2562C>T c.828C>T (p.Leu276=) n.2041C>T c.1154C>T c.1791C>T (p.Leu597=) n.948C>T n.1000C>T c.636C>T (p.Leu212=) | |
12 | g.121318340G>C | CA482430277 | ANAPC5 | c.1830C>G (p.Leu610=) c.1494C>G (p.Leu498=) n.2562C>G c.828C>G (p.Leu276=) n.2041C>G c.1154C>G c.1791C>G (p.Leu597=) n.948C>G n.1000C>G c.636C>G (p.Leu212=) | |
12 | g.121318340G>T | CA482430278 | ANAPC5 | c.1830C>A (p.Leu610=) c.1494C>A (p.Leu498=) n.2562C>A c.828C>A (p.Leu276=) n.2041C>A c.1154C>A c.1791C>A (p.Leu597=) n.948C>A n.1000C>A c.636C>A (p.Leu212=) | |
12 | g.121318341A= | CA2067835314 | ANAPC5 | c.1829T= (p.Leu610=) c.1493T= (p.Leu498=) n.2561T= c.827T= (p.Leu276=) n.2040T= c.1153T= c.1790T= (p.Leu597=) n.947T= n.999T= c.635T= (p.Leu212=) | |
12 | g.121318341A>C | CA386959788 | ANAPC5 | c.1829T>G (p.Leu610Arg) c.1493T>G (p.Leu498Arg) n.2561T>G c.827T>G (p.Leu276Arg) n.2040T>G c.1153T>G c.1790T>G (p.Leu597Arg) n.947T>G n.999T>G c.635T>G (p.Leu212Arg) | |
12 | g.121318341A>G | CA386959789 | ANAPC5 | c.1829T>C (p.Leu610Pro) c.1493T>C (p.Leu498Pro) n.2561T>C c.827T>C (p.Leu276Pro) n.2040T>C c.1153T>C c.1790T>C (p.Leu597Pro) n.947T>C n.999T>C c.635T>C (p.Leu212Pro) | |
12 | g.121318341A>T | CA386959792 | ANAPC5 | c.1829T>A (p.Leu610His) c.1493T>A (p.Leu498His) n.2561T>A c.827T>A (p.Leu276His) n.2040T>A c.1153T>A c.1790T>A (p.Leu597His) n.947T>A n.999T>A c.635T>A (p.Leu212His) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.121318342G>A | CA386959796 | ANAPC5 | c.1828C>T (p.Leu610Phe) c.1492C>T (p.Leu498Phe) n.2560C>T c.826C>T (p.Leu276Phe) n.2039C>T c.1152C>T c.1789C>T (p.Leu597Phe) n.946C>T n.998C>T c.634C>T (p.Leu212Phe) | gnomAD v4 |
12 | g.121318342G>C | CA244574741 | ANAPC5 | c.1828C>G (p.Leu610Val) c.1492C>G (p.Leu498Val) n.2560C>G c.826C>G (p.Leu276Val) n.2039C>G c.1152C>G c.1789C>G (p.Leu597Val) n.946C>G n.998C>G c.634C>G (p.Leu212Val) | dbSNP |
12 | g.121318342G= | CA2067835317 | ANAPC5 | c.1828C= (p.Leu610=) c.1492C= (p.Leu498=) n.2560C= c.826C= (p.Leu276=) n.2039C= c.1152C= c.1789C= (p.Leu597=) n.946C= n.998C= c.634C= (p.Leu212=) | |
12 | g.121318342G>T | CA386959800 | ANAPC5 | c.1828C>A (p.Leu610Ile) c.1492C>A (p.Leu498Ile) n.2560C>A c.826C>A (p.Leu276Ile) n.2039C>A c.1152C>A c.1789C>A (p.Leu597Ile) n.946C>A n.998C>A c.634C>A (p.Leu212Ile) | |
12 | g.121318343G>A | CA482430279 | ANAPC5 | c.1827C>T (p.Ala609=) c.1491C>T (p.Ala497=) n.2559C>T c.825C>T (p.Ala275=) n.2038C>T c.1151C>T c.1788C>T (p.Ala596=) n.945C>T n.997C>T c.633C>T (p.Ala211=) | |
12 | g.121318343G>C | CA482430280 | ANAPC5 | c.1827C>G (p.Ala609=) c.1491C>G (p.Ala497=) n.2559C>G c.825C>G (p.Ala275=) n.2038C>G c.1151C>G c.1788C>G (p.Ala596=) n.945C>G n.997C>G c.633C>G (p.Ala211=) | |
12 | g.121318343G>T | CA482430281 | ANAPC5 | c.1827C>A (p.Ala609=) c.1491C>A (p.Ala497=) n.2559C>A c.825C>A (p.Ala275=) n.2038C>A c.1151C>A c.1788C>A (p.Ala596=) n.945C>A n.997C>A c.633C>A (p.Ala211=) | |
12 | g.121318344G>A | CA386959801 | ANAPC5 | c.1826C>T (p.Ala609Val) c.1490C>T (p.Ala497Val) n.2558C>T c.824C>T (p.Ala275Val) n.2037C>T c.1150C>T c.1787C>T (p.Ala596Val) n.944C>T n.996C>T c.632C>T (p.Ala211Val) | |
12 | g.121318344G>C | CA386959802 | ANAPC5 | c.1826C>G (p.Ala609Gly) c.1490C>G (p.Ala497Gly) n.2558C>G c.824C>G (p.Ala275Gly) n.2037C>G c.1150C>G c.1787C>G (p.Ala596Gly) n.944C>G n.996C>G c.632C>G (p.Ala211Gly) | |
12 | g.121318344G>T | CA386959803 | ANAPC5 | c.1826C>A (p.Ala609Asp) c.1490C>A (p.Ala497Asp) n.2558C>A c.824C>A (p.Ala275Asp) n.2037C>A c.1150C>A c.1787C>A (p.Ala596Asp) n.944C>A n.996C>A c.632C>A (p.Ala211Asp) | |
12 | g.121318345C>A | CA386959808 | ANAPC5 | c.1825G>T (p.Ala609Ser) c.1489G>T (p.Ala497Ser) n.2557G>T c.823G>T (p.Ala275Ser) n.2036G>T c.1149G>T c.1786G>T (p.Ala596Ser) n.943G>T n.995G>T c.631G>T (p.Ala211Ser) | gnomAD v4 |
12 | g.121318345C= | CA2067835322 | ANAPC5 | c.1825G= (p.Ala609=) c.1489G= (p.Ala497=) n.2557G= c.823G= (p.Ala275=) n.2036G= c.1149G= c.1786G= (p.Ala596=) n.943G= n.995G= c.631G= (p.Ala211=) | |
12 | g.121318345C>G | CA386959811 | ANAPC5 | c.1825G>C (p.Ala609Pro) c.1489G>C (p.Ala497Pro) n.2557G>C c.823G>C (p.Ala275Pro) n.2036G>C c.1149G>C c.1786G>C (p.Ala596Pro) n.943G>C n.995G>C c.631G>C (p.Ala211Pro) | dbSNP |
12 | g.121318345C>T | CA386959820 | ANAPC5 | c.1825G>A (p.Ala609Thr) c.1489G>A (p.Ala497Thr) n.2557G>A c.823G>A (p.Ala275Thr) n.2036G>A c.1149G>A c.1786G>A (p.Ala596Thr) n.943G>A n.995G>A c.631G>A (p.Ala211Thr) | gnomAD v4 |
12 | g.121318346C>A | CA482430282 | ANAPC5 | c.1824G>T (p.Leu608=) c.1488G>T (p.Leu496=) n.2556G>T c.822G>T (p.Leu274=) n.2035G>T c.1148G>T c.1785G>T (p.Leu595=) n.942G>T n.994G>T c.630G>T (p.Leu210=) | |
12 | g.121318346C= | CA2067835328 | ANAPC5 | c.1824G= (p.Leu608=) c.1488G= (p.Leu496=) n.2556G= c.822G= (p.Leu274=) n.2035G= c.1148G= c.1785G= (p.Leu595=) n.942G= n.994G= c.630G= (p.Leu210=) | |
12 | g.121318346C>G | CA482430283 | ANAPC5 | c.1824G>C (p.Leu608=) c.1488G>C (p.Leu496=) n.2556G>C c.822G>C (p.Leu274=) n.2035G>C c.1148G>C c.1785G>C (p.Leu595=) n.942G>C n.994G>C c.630G>C (p.Leu210=) | dbSNP |
12 | g.121318346C>T | CA6835155 | ANAPC5 | c.1824G>A (p.Leu608=) c.1488G>A (p.Leu496=) n.2556G>A c.822G>A (p.Leu274=) n.2035G>A c.1148G>A c.1785G>A (p.Leu595=) n.942G>A n.994G>A c.630G>A (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318347A>C | CA386959824 | ANAPC5 | c.1823T>G (p.Leu608Arg) c.1487T>G (p.Leu496Arg) n.2555T>G c.821T>G (p.Leu274Arg) n.2034T>G c.1147T>G c.1784T>G (p.Leu595Arg) n.941T>G n.993T>G c.629T>G (p.Leu210Arg) | |
12 | g.121318347A>G | CA386959830 | ANAPC5 | c.1823T>C (p.Leu608Pro) c.1487T>C (p.Leu496Pro) n.2555T>C c.821T>C (p.Leu274Pro) n.2034T>C c.1147T>C c.1784T>C (p.Leu595Pro) n.941T>C n.993T>C c.629T>C (p.Leu210Pro) | |
12 | g.121318347A>T | CA386959827 | ANAPC5 | c.1823T>A (p.Leu608Gln) c.1487T>A (p.Leu496Gln) n.2555T>A c.821T>A (p.Leu274Gln) n.2034T>A c.1147T>A c.1784T>A (p.Leu595Gln) n.941T>A n.993T>A c.629T>A (p.Leu210Gln) | |
12 | g.121318348G>A | CA482430284 | ANAPC5 | c.1822C>T (p.Leu608=) c.1486C>T (p.Leu496=) n.2554C>T c.820C>T (p.Leu274=) n.2033C>T c.1146C>T c.1783C>T (p.Leu595=) n.940C>T n.992C>T c.628C>T (p.Leu210=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121318348G>C | CA386959841 | ANAPC5 | c.1822C>G (p.Leu608Val) c.1486C>G (p.Leu496Val) n.2554C>G c.820C>G (p.Leu274Val) n.2033C>G c.1146C>G c.1783C>G (p.Leu595Val) n.940C>G n.992C>G c.628C>G (p.Leu210Val) | |
12 | g.121318348G= | CA2067835331 | ANAPC5 | c.1822C= (p.Leu608=) c.1486C= (p.Leu496=) n.2554C= c.820C= (p.Leu274=) n.2033C= c.1146C= c.1783C= (p.Leu595=) n.940C= n.992C= c.628C= (p.Leu210=) | |
12 | g.121318348G>T | CA386959851 | ANAPC5 | c.1822C>A (p.Leu608Met) c.1486C>A (p.Leu496Met) n.2554C>A c.820C>A (p.Leu274Met) n.2033C>A c.1146C>A c.1783C>A (p.Leu595Met) n.940C>A n.992C>A c.628C>A (p.Leu210Met) | gnomAD v4 |
12 | g.121318349A= | CA2067835388 | ANAPC5 | c.1821T= (p.Ala607=) c.1485T= (p.Ala495=) n.2553T= c.819T= (p.Ala273=) n.2032T= c.1145T= c.1782T= (p.Ala594=) n.939T= n.991T= c.627T= (p.Ala209=) | |
12 | g.121318349A>C | CA482430286 | ANAPC5 | c.1821T>G (p.Ala607=) c.1485T>G (p.Ala495=) n.2553T>G c.819T>G (p.Ala273=) n.2032T>G c.1145T>G c.1782T>G (p.Ala594=) n.939T>G n.991T>G c.627T>G (p.Ala209=) | |
12 | g.121318349A>G | CA6835156 | ANAPC5 | c.1821T>C (p.Ala607=) c.1485T>C (p.Ala495=) n.2553T>C c.819T>C (p.Ala273=) n.2032T>C c.1145T>C c.1782T>C (p.Ala594=) n.939T>C n.991T>C c.627T>C (p.Ala209=) | dbSNP ExAC gnomAD v2 |
12 | g.121318349A>T | CA482430285 | ANAPC5 | c.1821T>A (p.Ala607=) c.1485T>A (p.Ala495=) n.2553T>A c.819T>A (p.Ala273=) n.2032T>A c.1145T>A c.1782T>A (p.Ala594=) n.939T>A n.991T>A c.627T>A (p.Ala209=) | |
12 | g.121318350G>A | CA386959858 | ANAPC5 | c.1820C>T (p.Ala607Val) c.1484C>T (p.Ala495Val) n.2552C>T c.818C>T (p.Ala273Val) n.2031C>T c.1144C>T c.1781C>T (p.Ala594Val) n.938C>T n.990C>T c.626C>T (p.Ala209Val) | |
12 | g.121318350G>C | CA386959861 | ANAPC5 | c.1820C>G (p.Ala607Gly) c.1484C>G (p.Ala495Gly) n.2552C>G c.818C>G (p.Ala273Gly) n.2031C>G c.1144C>G c.1781C>G (p.Ala594Gly) n.938C>G n.990C>G c.626C>G (p.Ala209Gly) | dbSNP |
12 | g.121318350G= | CA2067835394 | ANAPC5 | c.1820C= (p.Ala607=) c.1484C= (p.Ala495=) n.2552C= c.818C= (p.Ala273=) n.2031C= c.1144C= c.1781C= (p.Ala594=) n.938C= n.990C= c.626C= (p.Ala209=) | |
12 | g.121318350G>T | CA386959863 | ANAPC5 | c.1820C>A (p.Ala607Asp) c.1484C>A (p.Ala495Asp) n.2552C>A c.818C>A (p.Ala273Asp) n.2031C>A c.1144C>A c.1781C>A (p.Ala594Asp) n.938C>A n.990C>A c.626C>A (p.Ala209Asp) | |
12 | g.121318352_121318355dup | CA2067835392 | ANAPC5 | c.1817_1820dup (p.Leu608GlyfsTer16) c.1481_1484dup (p.Leu496GlyfsTer16) n.2549_2552dup c.815_818dup (p.Leu274GlyfsTer16) n.2028_2031dup c.1141_1144dup c.1778_1781dup (p.Leu595GlyfsTer16) n.935_938dup n.989-2_990dup c.623_626dup (p.Leu210GlyfsTer16) | dbSNP |
12 | g.121318351C>A | CA386959874 | ANAPC5 | c.1819G>T (p.Ala607Ser) c.1483G>T (p.Ala495Ser) n.2551G>T c.817G>T (p.Ala273Ser) n.2030G>T c.1143G>T c.1780G>T (p.Ala594Ser) n.937G>T n.989G>T c.625G>T (p.Ala209Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121318351C= | CA2067835398 | ANAPC5 | c.1819G= (p.Ala607=) c.1483G= (p.Ala495=) n.2551G= c.817G= (p.Ala273=) n.2030G= c.1143G= c.1780G= (p.Ala594=) n.937G= n.989G= c.625G= (p.Ala209=) | |
12 | g.121318351C>G | CA386959867 | ANAPC5 | c.1819G>C (p.Ala607Pro) c.1483G>C (p.Ala495Pro) n.2551G>C c.817G>C (p.Ala273Pro) n.2030G>C c.1143G>C c.1780G>C (p.Ala594Pro) n.937G>C n.989G>C c.625G>C (p.Ala209Pro) | |
12 | g.121318351C>T | CA386959872 | ANAPC5 | c.1819G>A (p.Ala607Thr) c.1483G>A (p.Ala495Thr) n.2551G>A c.817G>A (p.Ala273Thr) n.2030G>A c.1143G>A c.1780G>A (p.Ala594Thr) n.937G>A n.989G>A c.625G>A (p.Ala209Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121318352C>A | CA386959878 | ANAPC5 | c.1818G>T (p.Gln606His) c.1482G>T (p.Gln494His) n.2550G>T c.816G>T (p.Gln272His) n.2029G>T c.1142G>T c.1779G>T (p.Gln593His) n.936G>T n.989-1G>T c.624G>T (p.Gln208His) | |
12 | g.121318352C>G | CA386959879 | ANAPC5 | c.1818G>C (p.Gln606His) c.1482G>C (p.Gln494His) n.2550G>C c.816G>C (p.Gln272His) n.2029G>C c.1142G>C c.1779G>C (p.Gln593His) n.936G>C n.989-1G>C c.624G>C (p.Gln208His) | |
12 | g.121318352C>T | CA482430287 | ANAPC5 | c.1818G>A (p.Gln606=) c.1482G>A (p.Gln494=) n.2550G>A c.816G>A (p.Gln272=) n.2029G>A c.1142G>A c.1779G>A (p.Gln593=) n.936G>A n.989-1G>A c.624G>A (p.Gln208=) | |
12 | g.121318353T>A | CA386959888 | ANAPC5 | c.1817A>T (p.Gln606Leu) c.1481A>T (p.Gln494Leu) n.2549A>T c.815A>T (p.Gln272Leu) n.2028A>T c.1141A>T c.1778A>T (p.Gln593Leu) n.935A>T n.989-2A>T c.623A>T (p.Gln208Leu) | |
12 | g.121318353T>C | CA386959889 | ANAPC5 | c.1817A>G (p.Gln606Arg) c.1481A>G (p.Gln494Arg) n.2549A>G c.815A>G (p.Gln272Arg) n.2028A>G c.1141A>G c.1778A>G (p.Gln593Arg) n.935A>G n.989-2A>G c.623A>G (p.Gln208Arg) | gnomAD v4 |
12 | g.121318353T>G | CA386959896 | ANAPC5 | c.1817A>C (p.Gln606Pro) c.1481A>C (p.Gln494Pro) n.2549A>C c.815A>C (p.Gln272Pro) n.2028A>C c.1141A>C c.1778A>C (p.Gln593Pro) n.935A>C n.989-2A>C c.623A>C (p.Gln208Pro) | gnomAD v4 |
12 | g.121318353dup | CA2575323925 | ANAPC5 | c.1817dup (p.Ala607GlyfsTer16) c.1481dup (p.Ala495GlyfsTer16) n.2549dup c.815dup (p.Ala273GlyfsTer16) n.2028dup c.1141dup c.1778dup (p.Ala594GlyfsTer16) n.935dup n.989-2dup c.623dup (p.Ala209GlyfsTer16) | |
12 | g.121318354G>A | CA386959901 | ANAPC5 | c.1816C>T (p.Gln606Ter) c.1480C>T (p.Gln494Ter) n.2548C>T c.814C>T (p.Gln272Ter) n.2027C>T c.1140C>T c.1777C>T (p.Gln593Ter) n.934C>T n.989-3C>T c.622C>T (p.Gln208Ter) | |
12 | g.121318354G>C | CA386959909 | ANAPC5 | c.1816C>G (p.Gln606Glu) c.1480C>G (p.Gln494Glu) n.2548C>G c.814C>G (p.Gln272Glu) n.2027C>G c.1140C>G c.1777C>G (p.Gln593Glu) n.934C>G n.989-3C>G c.622C>G (p.Gln208Glu) | dbSNP |
12 | g.121318354G= | CA2067835403 | ANAPC5 | c.1816C= (p.Gln606=) c.1480C= (p.Gln494=) n.2548C= c.814C= (p.Gln272=) n.2027C= c.1140C= c.1777C= (p.Gln593=) n.934C= n.989-3C= c.622C= (p.Gln208=) | |
12 | g.121318354G>T | CA386959906 | ANAPC5 | c.1816C>A (p.Gln606Lys) c.1480C>A (p.Gln494Lys) n.2548C>A c.814C>A (p.Gln272Lys) n.2027C>A c.1140C>A c.1777C>A (p.Gln593Lys) n.934C>A n.989-3C>A c.622C>A (p.Gln208Lys) | |
12 | g.121318355C>A | CA482430288 | ANAPC5 | c.1815G>T (p.Leu605=) c.1479G>T (p.Leu493=) n.2547G>T c.813G>T (p.Leu271=) n.2026G>T c.1139G>T c.1776G>T (p.Leu592=) n.933G>T n.989-4G>T c.621G>T (p.Leu207=) | |
12 | g.121318355C= | CA2067835407 | ANAPC5 | c.1815G= (p.Leu605=) c.1479G= (p.Leu493=) n.2547G= c.813G= (p.Leu271=) n.2026G= c.1139G= c.1776G= (p.Leu592=) n.933G= n.989-4G= c.621G= (p.Leu207=) | |
12 | g.121318355C>G | CA482430290 | ANAPC5 | c.1815G>C (p.Leu605=) c.1479G>C (p.Leu493=) n.2547G>C c.813G>C (p.Leu271=) n.2026G>C c.1139G>C c.1776G>C (p.Leu592=) n.933G>C n.989-4G>C c.621G>C (p.Leu207=) | |
12 | g.121318355C>T | CA482430289 | ANAPC5 | c.1815G>A (p.Leu605=) c.1479G>A (p.Leu493=) n.2547G>A c.813G>A (p.Leu271=) n.2026G>A c.1139G>A c.1776G>A (p.Leu592=) n.933G>A n.989-4G>A c.621G>A (p.Leu207=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318356A>C | CA386959914 | ANAPC5 | c.1814T>G (p.Leu605Arg) c.1478T>G (p.Leu493Arg) n.2546T>G c.812T>G (p.Leu271Arg) n.2025T>G c.1138T>G c.1775T>G (p.Leu592Arg) n.932T>G n.989-5T>G c.620T>G (p.Leu207Arg) | |
12 | g.121318356A>G | CA386959919 | ANAPC5 | c.1814T>C (p.Leu605Pro) c.1478T>C (p.Leu493Pro) n.2546T>C c.812T>C (p.Leu271Pro) n.2025T>C c.1138T>C c.1775T>C (p.Leu592Pro) n.932T>C n.989-5T>C c.620T>C (p.Leu207Pro) | |
12 | g.121318356A>T | CA386959929 | ANAPC5 | c.1814T>A (p.Leu605Gln) c.1478T>A (p.Leu493Gln) n.2546T>A c.812T>A (p.Leu271Gln) n.2025T>A c.1138T>A c.1775T>A (p.Leu592Gln) n.932T>A n.989-5T>A c.620T>A (p.Leu207Gln) | |
12 | g.121318356_121318360del | CA2621415540 | ANAPC5 | c.1810_1814del (p.Leu604AlafsTer17) c.1474_1478del (p.Leu492AlafsTer17) n.2542_2546del c.808_812del (p.Leu270AlafsTer17) n.2021_2025del c.1134_1138del c.1771_1775del (p.Leu591AlafsTer17) n.928_932del n.989-9_989-5del c.616_620del (p.Leu206AlafsTer17) | gnomAD v4 |
12 | g.121318357G>A | CA482430291 | ANAPC5 | c.1813C>T (p.Leu605=) c.1477C>T (p.Leu493=) n.2545C>T c.811C>T (p.Leu271=) n.2024C>T c.1137C>T c.1774C>T (p.Leu592=) n.931C>T n.989-6C>T c.619C>T (p.Leu207=) | gnomAD v4 |
12 | g.121318357G>C | CA386959938 | ANAPC5 | c.1813C>G (p.Leu605Val) c.1477C>G (p.Leu493Val) n.2545C>G c.811C>G (p.Leu271Val) n.2024C>G c.1137C>G c.1774C>G (p.Leu592Val) n.931C>G n.989-6C>G c.619C>G (p.Leu207Val) | |
12 | g.121318357G>T | CA386959944 | ANAPC5 | c.1813C>A (p.Leu605Met) c.1477C>A (p.Leu493Met) n.2545C>A c.811C>A (p.Leu271Met) n.2024C>A c.1137C>A c.1774C>A (p.Leu592Met) n.931C>A n.989-6C>A c.619C>A (p.Leu207Met) | |
12 | g.121318358G>A | CA482430292 | ANAPC5 | c.1812C>T (p.Leu604=) c.1476C>T (p.Leu492=) n.2544C>T c.810C>T (p.Leu270=) n.2023C>T c.1136C>T c.1773C>T (p.Leu591=) n.930C>T n.989-7C>T c.618C>T (p.Leu206=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318358G>C | CA482430293 | ANAPC5 | c.1812C>G (p.Leu604=) c.1476C>G (p.Leu492=) n.2544C>G c.810C>G (p.Leu270=) n.2023C>G c.1136C>G c.1773C>G (p.Leu591=) n.930C>G n.989-7C>G c.618C>G (p.Leu206=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318358G= | CA2067835411 | ANAPC5 | c.1812C= (p.Leu604=) c.1476C= (p.Leu492=) n.2544C= c.810C= (p.Leu270=) n.2023C= c.1136C= c.1773C= (p.Leu591=) n.930C= n.989-7C= c.618C= (p.Leu206=) | |
12 | g.121318358G>T | CA482430294 | ANAPC5 | c.1812C>A (p.Leu604=) c.1476C>A (p.Leu492=) n.2544C>A c.810C>A (p.Leu270=) n.2023C>A c.1136C>A c.1773C>A (p.Leu591=) n.930C>A n.989-7C>A c.618C>A (p.Leu206=) | |
12 | g.121318359A>C | CA386959948 | ANAPC5 | c.1811T>G (p.Leu604Arg) c.1475T>G (p.Leu492Arg) n.2543T>G c.809T>G (p.Leu270Arg) n.2022T>G c.1135T>G c.1772T>G (p.Leu591Arg) n.929T>G n.989-8T>G c.617T>G (p.Leu206Arg) | |
12 | g.121318359A>G | CA386959951 | ANAPC5 | c.1811T>C (p.Leu604Pro) c.1475T>C (p.Leu492Pro) n.2543T>C c.809T>C (p.Leu270Pro) n.2022T>C c.1135T>C c.1772T>C (p.Leu591Pro) n.929T>C n.989-8T>C c.617T>C (p.Leu206Pro) | |
12 | g.121318359A>T | CA386959961 | ANAPC5 | c.1811T>A (p.Leu604His) c.1475T>A (p.Leu492His) n.2543T>A c.809T>A (p.Leu270His) n.2022T>A c.1135T>A c.1772T>A (p.Leu591His) n.929T>A n.989-8T>A c.617T>A (p.Leu206His) | |
12 | g.121318360G>A | CA386959974 | ANAPC5 | c.1810C>T (p.Leu604Phe) c.1474C>T (p.Leu492Phe) n.2542C>T c.808C>T (p.Leu270Phe) n.2021C>T c.1134C>T c.1771C>T (p.Leu591Phe) n.928C>T n.989-9C>T c.616C>T (p.Leu206Phe) | gnomAD v4 |
12 | g.121318360G>C | CA386959984 | ANAPC5 | c.1810C>G (p.Leu604Val) c.1474C>G (p.Leu492Val) n.2542C>G c.808C>G (p.Leu270Val) n.2021C>G c.1134C>G c.1771C>G (p.Leu591Val) n.928C>G n.989-9C>G c.616C>G (p.Leu206Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121318360G= | CA2067835414 | ANAPC5 | c.1810C= (p.Leu604=) c.1474C= (p.Leu492=) n.2542C= c.808C= (p.Leu270=) n.2021C= c.1134C= c.1771C= (p.Leu591=) n.928C= n.989-9C= c.616C= (p.Leu206=) | |
12 | g.121318360G>T | CA386959985 | ANAPC5 | c.1810C>A (p.Leu604Ile) c.1474C>A (p.Leu492Ile) n.2542C>A c.808C>A (p.Leu270Ile) n.2021C>A c.1134C>A c.1771C>A (p.Leu591Ile) n.928C>A n.989-9C>A c.616C>A (p.Leu206Ile) | |
12 | g.121318361C>A | CA386959986 | ANAPC5 | c.1809G>T (p.Met603Ile) c.1473G>T (p.Met491Ile) n.2541G>T c.807G>T (p.Met269Ile) n.2020G>T c.1133G>T c.1770G>T (p.Met590Ile) n.927G>T n.989-10G>T c.615G>T (p.Met205Ile) | |
12 | g.121318361C>G | CA386959989 | ANAPC5 | c.1809G>C (p.Met603Ile) c.1473G>C (p.Met491Ile) n.2541G>C c.807G>C (p.Met269Ile) n.2020G>C c.1133G>C c.1770G>C (p.Met590Ile) n.927G>C n.989-10G>C c.615G>C (p.Met205Ile) | |
12 | g.121318361C>T | CA386959987 | ANAPC5 | c.1809G>A (p.Met603Ile) c.1473G>A (p.Met491Ile) n.2541G>A c.807G>A (p.Met269Ile) n.2020G>A c.1133G>A c.1770G>A (p.Met590Ile) n.927G>A n.989-10G>A c.615G>A (p.Met205Ile) | |
12 | g.121318362A= | CA2067835415 | ANAPC5 | c.1808T= (p.Met603=) c.1472T= (p.Met491=) n.2540T= c.806T= (p.Met269=) n.2019T= c.1132T= c.1769T= (p.Met590=) n.926T= n.989-11T= c.614T= (p.Met205=) | |
12 | g.121318362A>C | CA386959993 | ANAPC5 | c.1808T>G (p.Met603Arg) c.1472T>G (p.Met491Arg) n.2540T>G c.806T>G (p.Met269Arg) n.2019T>G c.1132T>G c.1769T>G (p.Met590Arg) n.926T>G n.989-11T>G c.614T>G (p.Met205Arg) | dbSNP gnomAD v4 |
12 | g.121318362A>G | CA386960012 | ANAPC5 | c.1808T>C (p.Met603Thr) c.1472T>C (p.Met491Thr) n.2540T>C c.806T>C (p.Met269Thr) n.2019T>C c.1132T>C c.1769T>C (p.Met590Thr) n.926T>C n.989-11T>C c.614T>C (p.Met205Thr) | |
12 | g.121318362A>T | CA386960009 | ANAPC5 | c.1808T>A (p.Met603Lys) c.1472T>A (p.Met491Lys) n.2540T>A c.806T>A (p.Met269Lys) n.2019T>A c.1132T>A c.1769T>A (p.Met590Lys) n.926T>A n.989-11T>A c.614T>A (p.Met205Lys) | gnomAD v4 |
12 | g.121318363T>A | CA386960018 | ANAPC5 | c.1807A>T (p.Met603Leu) c.1471A>T (p.Met491Leu) n.2539A>T c.805A>T (p.Met269Leu) n.2018A>T c.1131A>T c.1768A>T (p.Met590Leu) n.925A>T n.989-12A>T c.613A>T (p.Met205Leu) | COSMIC |
12 | g.121318363T>C | CA6835157 | ANAPC5 | c.1807A>G (p.Met603Val) c.1471A>G (p.Met491Val) n.2539A>G c.805A>G (p.Met269Val) n.2018A>G c.1131A>G c.1768A>G (p.Met590Val) n.925A>G n.989-12A>G c.613A>G (p.Met205Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318363T>G | CA386960021 | ANAPC5 | c.1807A>C (p.Met603Leu) c.1471A>C (p.Met491Leu) n.2539A>C c.805A>C (p.Met269Leu) n.2018A>C c.1131A>C c.1768A>C (p.Met590Leu) n.925A>C n.989-12A>C c.613A>C (p.Met205Leu) | |
12 | g.121318363T= | CA2067835416 | ANAPC5 | c.1807A= (p.Met603=) c.1471A= (p.Met491=) n.2539A= c.805A= (p.Met269=) n.2018A= c.1131A= c.1768A= (p.Met590=) n.925A= n.989-12A= c.613A= (p.Met205=) | |
12 | g.121318364G>A | CA482430295 | ANAPC5 | c.1806C>T (p.Pro602=) c.1470C>T (p.Pro490=) n.2538C>T c.804C>T (p.Pro268=) n.2017C>T c.1130C>T c.1767C>T (p.Pro589=) n.924C>T n.989-13C>T c.612C>T (p.Pro204=) | gnomAD v4 |
12 | g.121318364G>C | CA482430296 | ANAPC5 | c.1806C>G (p.Pro602=) c.1470C>G (p.Pro490=) n.2538C>G c.804C>G (p.Pro268=) n.2017C>G c.1130C>G c.1767C>G (p.Pro589=) n.924C>G n.989-13C>G c.612C>G (p.Pro204=) | |
12 | g.121318364G>T | CA482430297 | ANAPC5 | c.1806C>A (p.Pro602=) c.1470C>A (p.Pro490=) n.2538C>A c.804C>A (p.Pro268=) n.2017C>A c.1130C>A c.1767C>A (p.Pro589=) n.924C>A n.989-13C>A c.612C>A (p.Pro204=) | |
12 | g.121318366dup | CA2067835417 | ANAPC5 | c.1806dup (p.Met603HisfsTer20) c.1470dup (p.Met491HisfsTer20) n.2538dup c.804dup (p.Met269HisfsTer20) n.2017dup c.1130dup c.1767dup (p.Met590HisfsTer20) n.924dup n.989-13dup c.612dup (p.Met205HisfsTer20) | dbSNP |
12 | g.121318366del | CA2575323926 | ANAPC5 | c.1806del (p.Met603CysfsTer23) c.1470del (p.Met491CysfsTer23) n.2538del c.804del (p.Met269CysfsTer23) n.2017del c.1130del c.1767del (p.Met590CysfsTer23) n.924del n.989-13del c.612del (p.Met205CysfsTer23) | |
12 | g.121318364_121318369del | CA2621415541 | ANAPC5 | c.1801_1806del (p.Leu601_Pro602del) c.1465_1470del (p.Leu489_Pro490del) n.2533_2538del c.799_804del (p.Leu267_Pro268del) n.2012_2017del c.1125_1130del c.1762_1767del (p.Leu588_Pro589del) n.919_924del n.989-18_989-13del c.607_612del (p.Leu203_Pro204del) | gnomAD v4 |
12 | g.121318365G>A | CA386960023 | ANAPC5 | c.1805C>T (p.Pro602Leu) c.1469C>T (p.Pro490Leu) n.2537C>T c.803C>T (p.Pro268Leu) n.2016C>T c.1129C>T c.1766C>T (p.Pro589Leu) n.923C>T n.989-14C>T c.611C>T (p.Pro204Leu) | gnomAD v4 |
12 | g.121318365G>C | CA386960027 | ANAPC5 | c.1805C>G (p.Pro602Arg) c.1469C>G (p.Pro490Arg) n.2537C>G c.803C>G (p.Pro268Arg) n.2016C>G c.1129C>G c.1766C>G (p.Pro589Arg) n.923C>G n.989-14C>G c.611C>G (p.Pro204Arg) | |
12 | g.121318365G>T | CA386960030 | ANAPC5 | c.1805C>A (p.Pro602His) c.1469C>A (p.Pro490His) n.2537C>A c.803C>A (p.Pro268His) n.2016C>A c.1129C>A c.1766C>A (p.Pro589His) n.923C>A n.989-14C>A c.611C>A (p.Pro204His) | |
12 | g.121318366G>A | CA386960031 | ANAPC5 | c.1804C>T (p.Pro602Ser) c.1468C>T (p.Pro490Ser) n.2536C>T c.802C>T (p.Pro268Ser) n.2015C>T c.1128C>T c.1765C>T (p.Pro589Ser) n.922C>T n.989-15C>T c.610C>T (p.Pro204Ser) | dbSNP |
12 | g.121318366G>C | CA386960032 | ANAPC5 | c.1804C>G (p.Pro602Ala) c.1468C>G (p.Pro490Ala) n.2536C>G c.802C>G (p.Pro268Ala) n.2015C>G c.1128C>G c.1765C>G (p.Pro589Ala) n.922C>G n.989-15C>G c.610C>G (p.Pro204Ala) | |
12 | g.121318366G= | CA2067835418 | ANAPC5 | c.1804C= (p.Pro602=) c.1468C= (p.Pro490=) n.2536C= c.802C= (p.Pro268=) n.2015C= c.1128C= c.1765C= (p.Pro589=) n.922C= n.989-15C= c.610C= (p.Pro204=) | |
12 | g.121318366G>T | CA386960034 | ANAPC5 | c.1804C>A (p.Pro602Thr) c.1468C>A (p.Pro490Thr) n.2536C>A c.802C>A (p.Pro268Thr) n.2015C>A c.1128C>A c.1765C>A (p.Pro589Thr) n.922C>A n.989-15C>A c.610C>A (p.Pro204Thr) | |
12 | g.121318367C>A | CA482430298 | ANAPC5 | c.1803G>T (p.Leu601=) c.1467G>T (p.Leu489=) n.2535G>T c.801G>T (p.Leu267=) n.2014G>T c.1127G>T c.1764G>T (p.Leu588=) n.921G>T n.989-16G>T c.609G>T (p.Leu203=) | |
12 | g.121318367C= | CA2067835420 | ANAPC5 | c.1803G= (p.Leu601=) c.1467G= (p.Leu489=) n.2535G= c.801G= (p.Leu267=) n.2014G= c.1127G= c.1764G= (p.Leu588=) n.921G= n.989-16G= c.609G= (p.Leu203=) | |
12 | g.121318367C>G | CA482430299 | ANAPC5 | c.1803G>C (p.Leu601=) c.1467G>C (p.Leu489=) n.2535G>C c.801G>C (p.Leu267=) n.2014G>C c.1127G>C c.1764G>C (p.Leu588=) n.921G>C n.989-16G>C c.609G>C (p.Leu203=) | |
12 | g.121318367C>T | CA482430300 | ANAPC5 | c.1803G>A (p.Leu601=) c.1467G>A (p.Leu489=) n.2535G>A c.801G>A (p.Leu267=) n.2014G>A c.1127G>A c.1764G>A (p.Leu588=) n.921G>A n.989-16G>A c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121318368A>C | CA386960040 | ANAPC5 | c.1802T>G (p.Leu601Arg) c.1466T>G (p.Leu489Arg) n.2534T>G c.800T>G (p.Leu267Arg) n.2013T>G c.1126T>G c.1763T>G (p.Leu588Arg) n.920T>G n.989-17T>G c.608T>G (p.Leu203Arg) | |
12 | g.121318368A>G | CA386960045 | ANAPC5 | c.1802T>C (p.Leu601Pro) c.1466T>C (p.Leu489Pro) n.2534T>C c.800T>C (p.Leu267Pro) n.2013T>C c.1126T>C c.1763T>C (p.Leu588Pro) n.920T>C n.989-17T>C c.608T>C (p.Leu203Pro) | |
12 | g.121318368A>T | CA386960048 | ANAPC5 | c.1802T>A (p.Leu601Gln) c.1466T>A (p.Leu489Gln) n.2534T>A c.800T>A (p.Leu267Gln) n.2013T>A c.1126T>A c.1763T>A (p.Leu588Gln) n.920T>A n.989-17T>A c.608T>A (p.Leu203Gln) | |
12 | g.121318369G>A | CA482430301 | ANAPC5 | c.1801C>T (p.Leu601=) c.1465C>T (p.Leu489=) n.2533C>T c.799C>T (p.Leu267=) n.2012C>T c.1125C>T c.1762C>T (p.Leu588=) n.919C>T n.989-18C>T c.607C>T (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.121318369G>C | CA386960060 | ANAPC5 | c.1801C>G (p.Leu601Val) c.1465C>G (p.Leu489Val) n.2533C>G c.799C>G (p.Leu267Val) n.2012C>G c.1125C>G c.1762C>G (p.Leu588Val) n.919C>G n.989-18C>G c.607C>G (p.Leu203Val) | |
12 | g.121318369G= | CA2067835421 | ANAPC5 | c.1801C= (p.Leu601=) c.1465C= (p.Leu489=) n.2533C= c.799C= (p.Leu267=) n.2012C= c.1125C= c.1762C= (p.Leu588=) n.919C= n.989-18C= c.607C= (p.Leu203=) | |
12 | g.121318369G>T | CA386960065 | ANAPC5 | c.1801C>A (p.Leu601Met) c.1465C>A (p.Leu489Met) n.2533C>A c.799C>A (p.Leu267Met) n.2012C>A c.1125C>A c.1762C>A (p.Leu588Met) n.919C>A n.989-18C>A c.607C>A (p.Leu203Met) | gnomAD v4 |
12 | g.121318370C>A | CA482430302 | ANAPC5 | c.1800G>T (p.Ala600=) c.1464G>T (p.Ala488=) n.2532G>T c.798G>T (p.Ala266=) n.2011G>T c.1124G>T c.1761G>T (p.Ala587=) n.918G>T n.989-19G>T c.606G>T (p.Ala202=) | |
12 | g.121318370C= | CA2067835424 | ANAPC5 | c.1800G= (p.Ala600=) c.1464G= (p.Ala488=) n.2532G= c.798G= (p.Ala266=) n.2011G= c.1124G= c.1761G= (p.Ala587=) n.918G= n.989-19G= c.606G= (p.Ala202=) | |
12 | g.121318370C>G | CA482430303 | ANAPC5 | c.1800G>C (p.Ala600=) c.1464G>C (p.Ala488=) n.2532G>C c.798G>C (p.Ala266=) n.2011G>C c.1124G>C c.1761G>C (p.Ala587=) n.918G>C n.989-19G>C c.606G>C (p.Ala202=) | |
12 | g.121318370C>T | CA6835158 | ANAPC5 | c.1800G>A (p.Ala600=) c.1464G>A (p.Ala488=) n.2532G>A c.798G>A (p.Ala266=) n.2011G>A c.1124G>A c.1761G>A (p.Ala587=) n.918G>A n.989-19G>A c.606G>A (p.Ala202=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.121318371G>A | CA6835159 | ANAPC5 | c.1799C>T (p.Ala600Val) c.1463C>T (p.Ala488Val) n.2531C>T c.797C>T (p.Ala266Val) n.2010C>T c.1123C>T c.1760C>T (p.Ala587Val) n.917C>T n.989-20C>T c.605C>T (p.Ala202Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.121318371G>C | CA386960071 | ANAPC5 | c.1799C>G (p.Ala600Gly) c.1463C>G (p.Ala488Gly) n.2531C>G c.797C>G (p.Ala266Gly) n.2010C>G c.1123C>G c.1760C>G (p.Ala587Gly) n.917C>G n.989-20C>G c.605C>G (p.Ala202Gly) | |
12 | g.121318371G= | CA2067835449 | ANAPC5 | c.1799C= (p.Ala600=) c.1463C= (p.Ala488=) n.2531C= c.797C= (p.Ala266=) n.2010C= c.1123C= c.1760C= (p.Ala587=) n.917C= n.989-20C= c.605C= (p.Ala202=) | |
12 | g.121318371G>T | CA386960072 | ANAPC5 | c.1799C>A (p.Ala600Glu) c.1463C>A (p.Ala488Glu) n.2531C>A c.797C>A (p.Ala266Glu) n.2010C>A c.1123C>A c.1760C>A (p.Ala587Glu) n.917C>A n.989-20C>A c.605C>A (p.Ala202Glu) | |
12 | g.121318371dup | CA2575323927 | ANAPC5 | c.1799dup (p.Leu601AlafsTer22) c.1463dup (p.Leu489AlafsTer22) n.2531dup c.797dup (p.Leu267AlafsTer22) n.2010dup c.1123dup c.1760dup (p.Leu588AlafsTer22) n.917dup n.989-20dup c.605dup (p.Leu203AlafsTer22) | |
12 | g.121318372C>A | CA386960074 | ANAPC5 | c.1798G>T (p.Ala600Ser) c.1462G>T (p.Ala488Ser) n.2530G>T c.796G>T (p.Ala266Ser) n.2009G>T c.1122G>T c.1759G>T (p.Ala587Ser) n.916G>T n.989-21G>T c.604G>T (p.Ala202Ser) | |
12 | g.121318372C= | CA2067835452 | ANAPC5 | c.1798G= (p.Ala600=) c.1462G= (p.Ala488=) n.2530G= c.796G= (p.Ala266=) n.2009G= c.1122G= c.1759G= (p.Ala587=) n.916G= n.989-21G= c.604G= (p.Ala202=) | |
12 | g.121318372C>G | CA386960077 | ANAPC5 | c.1798G>C (p.Ala600Pro) c.1462G>C (p.Ala488Pro) n.2530G>C c.796G>C (p.Ala266Pro) n.2009G>C c.1122G>C c.1759G>C (p.Ala587Pro) n.916G>C n.989-21G>C c.604G>C (p.Ala202Pro) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121318372C>T | CA6835160 | ANAPC5 | c.1798G>A (p.Ala600Thr) c.1462G>A (p.Ala488Thr) n.2530G>A c.796G>A (p.Ala266Thr) n.2009G>A c.1122G>A c.1759G>A (p.Ala587Thr) n.916G>A n.989-21G>A c.604G>A (p.Ala202Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318373G>A | CA6835161 | ANAPC5 | c.1797C>T (p.Ile599=) c.1461C>T (p.Ile487=) n.2529C>T c.795C>T (p.Ile265=) n.2008C>T c.1121C>T c.1758C>T (p.Ile586=) n.915C>T n.989-22C>T c.603C>T (p.Ile201=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318373G>C | CA386960106 | ANAPC5 | c.1797C>G (p.Ile599Met) c.1461C>G (p.Ile487Met) n.2529C>G c.795C>G (p.Ile265Met) n.2008C>G c.1121C>G c.1758C>G (p.Ile586Met) n.915C>G n.989-22C>G c.603C>G (p.Ile201Met) | |
12 | g.121318373G= | CA2067835455 | ANAPC5 | c.1797C= (p.Ile599=) c.1461C= (p.Ile487=) n.2529C= c.795C= (p.Ile265=) n.2008C= c.1121C= c.1758C= (p.Ile586=) n.915C= n.989-22C= c.603C= (p.Ile201=) | |
12 | g.121318373G>T | CA482430304 | ANAPC5 | c.1797C>A (p.Ile599=) c.1461C>A (p.Ile487=) n.2529C>A c.795C>A (p.Ile265=) n.2008C>A c.1121C>A c.1758C>A (p.Ile586=) n.915C>A n.989-22C>A c.603C>A (p.Ile201=) | |
12 | g.121318374A>C | CA386960111 | ANAPC5 | c.1796T>G (p.Ile599Ser) c.1460T>G (p.Ile487Ser) n.2528T>G c.794T>G (p.Ile265Ser) n.2007T>G c.1120T>G c.1757T>G (p.Ile586Ser) n.914T>G n.989-23T>G c.602T>G (p.Ile201Ser) | gnomAD v4 |
12 | g.121318374A>G | CA386960120 | ANAPC5 | c.1796T>C (p.Ile599Thr) c.1460T>C (p.Ile487Thr) n.2528T>C c.794T>C (p.Ile265Thr) n.2007T>C c.1120T>C c.1757T>C (p.Ile586Thr) n.914T>C n.989-23T>C c.602T>C (p.Ile201Thr) | gnomAD v4 |
12 | g.121318374A>T | CA386960123 | ANAPC5 | c.1796T>A (p.Ile599Asn) c.1460T>A (p.Ile487Asn) n.2528T>A c.794T>A (p.Ile265Asn) n.2007T>A c.1120T>A c.1757T>A (p.Ile586Asn) n.914T>A n.989-23T>A c.602T>A (p.Ile201Asn) | |
12 | g.121318375T>A | CA386960130 | ANAPC5 | c.1795A>T (p.Ile599Phe) c.1459A>T (p.Ile487Phe) n.2527A>T c.793A>T (p.Ile265Phe) n.2006A>T c.1119A>T c.1756A>T (p.Ile586Phe) n.913A>T n.989-24A>T c.601A>T (p.Ile201Phe) | |
12 | g.121318375T>C | CA6835162 | ANAPC5 | c.1795A>G (p.Ile599Val) c.1459A>G (p.Ile487Val) n.2527A>G c.793A>G (p.Ile265Val) n.2006A>G c.1119A>G c.1756A>G (p.Ile586Val) n.913A>G n.989-24A>G c.601A>G (p.Ile201Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318375T>G | CA6835163 | ANAPC5 | c.1795A>C (p.Ile599Leu) c.1459A>C (p.Ile487Leu) n.2527A>C c.793A>C (p.Ile265Leu) n.2006A>C c.1119A>C c.1756A>C (p.Ile586Leu) n.913A>C n.989-24A>C c.601A>C (p.Ile201Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.121318375T= | CA2067835459 | ANAPC5 | c.1795A= (p.Ile599=) c.1459A= (p.Ile487=) n.2527A= c.793A= (p.Ile265=) n.2006A= c.1119A= c.1756A= (p.Ile586=) n.913A= n.989-24A= c.601A= (p.Ile201=) | |
12 | g.121318376G>A | CA482430305 | ANAPC5 | c.1794C>T (p.Thr598=) c.1458C>T (p.Thr486=) n.2526C>T c.792C>T (p.Thr264=) n.2005C>T c.1118C>T c.1755C>T (p.Thr585=) n.912C>T n.989-25C>T c.600C>T (p.Thr200=) | |
12 | g.121318376G>C | CA482430306 | ANAPC5 | c.1794C>G (p.Thr598=) c.1458C>G (p.Thr486=) n.2526C>G c.792C>G (p.Thr264=) n.2005C>G c.1118C>G c.1755C>G (p.Thr585=) n.912C>G n.989-25C>G c.600C>G (p.Thr200=) | |
12 | g.121318376G>T | CA482430307 | ANAPC5 | c.1794C>A (p.Thr598=) c.1458C>A (p.Thr486=) n.2526C>A c.792C>A (p.Thr264=) n.2005C>A c.1118C>A c.1755C>A (p.Thr585=) n.912C>A n.989-25C>A c.600C>A (p.Thr200=) | |
12 | g.121318377G>A | CA386960142 | ANAPC5 | c.1793C>T (p.Thr598Ile) c.1457C>T (p.Thr486Ile) n.2525C>T c.791C>T (p.Thr264Ile) n.2004C>T c.1117C>T c.1754C>T (p.Thr585Ile) n.911C>T n.989-26C>T c.599C>T (p.Thr200Ile) | |
12 | g.121318377G>C | CA386960144 | ANAPC5 | c.1793C>G (p.Thr598Ser) c.1457C>G (p.Thr486Ser) n.2525C>G c.791C>G (p.Thr264Ser) n.2004C>G c.1117C>G c.1754C>G (p.Thr585Ser) n.911C>G n.989-26C>G c.599C>G (p.Thr200Ser) | |
12 | g.121318377G>T | CA386960148 | ANAPC5 | c.1793C>A (p.Thr598Asn) c.1457C>A (p.Thr486Asn) n.2525C>A c.791C>A (p.Thr264Asn) n.2004C>A c.1117C>A c.1754C>A (p.Thr585Asn) n.911C>A n.989-26C>A c.599C>A (p.Thr200Asn) | |
12 | g.121318378T>A | CA386960167 | ANAPC5 | c.1792A>T (p.Thr598Ser) c.1456A>T (p.Thr486Ser) n.2524A>T c.790A>T (p.Thr264Ser) n.2003A>T c.1116A>T c.1753A>T (p.Thr585Ser) n.910A>T n.989-27A>T c.598A>T (p.Thr200Ser) | |
12 | g.121318378T>C | CA244574783 | ANAPC5 | c.1792A>G (p.Thr598Ala) c.1456A>G (p.Thr486Ala) n.2524A>G c.790A>G (p.Thr264Ala) n.2003A>G c.1116A>G c.1753A>G (p.Thr585Ala) n.910A>G n.989-27A>G c.598A>G (p.Thr200Ala) | dbSNP |
12 | g.121318378T>G | CA386960174 | ANAPC5 | c.1792A>C (p.Thr598Pro) c.1456A>C (p.Thr486Pro) n.2524A>C c.790A>C (p.Thr264Pro) n.2003A>C c.1116A>C c.1753A>C (p.Thr585Pro) n.910A>C n.989-27A>C c.598A>C (p.Thr200Pro) | |
12 | g.121318378T= | CA2067835464 | ANAPC5 | c.1792A= (p.Thr598=) c.1456A= (p.Thr486=) n.2524A= c.790A= (p.Thr264=) n.2003A= c.1116A= c.1753A= (p.Thr585=) n.910A= n.989-27A= c.598A= (p.Thr200=) | |
12 | g.121318379A= | CA2067835469 | ANAPC5 | c.1791T= (p.Pro597=) c.1455T= (p.Pro485=) n.2523T= c.789T= (p.Pro263=) n.2002T= c.1115T= c.1752T= (p.Pro584=) n.909T= n.989-28T= c.597T= (p.Pro199=) | |
12 | g.121318379A>C | CA482430308 | ANAPC5 | c.1791T>G (p.Pro597=) c.1455T>G (p.Pro485=) n.2523T>G c.789T>G (p.Pro263=) n.2002T>G c.1115T>G c.1752T>G (p.Pro584=) n.909T>G n.989-28T>G c.597T>G (p.Pro199=) | |
12 | g.121318379A>G | CA482430309 | ANAPC5 | c.1791T>C (p.Pro597=) c.1455T>C (p.Pro485=) n.2523T>C c.789T>C (p.Pro263=) n.2002T>C c.1115T>C c.1752T>C (p.Pro584=) n.909T>C n.989-28T>C c.597T>C (p.Pro199=) | dbSNP |
12 | g.121318379A>T | CA482430310 | ANAPC5 | c.1791T>A (p.Pro597=) c.1455T>A (p.Pro485=) n.2523T>A c.789T>A (p.Pro263=) n.2002T>A c.1115T>A c.1752T>A (p.Pro584=) n.909T>A n.989-28T>A c.597T>A (p.Pro199=) | |
12 | g.121318380G>A | CA244574793 | ANAPC5 | c.1790C>T (p.Pro597Leu) c.1454C>T (p.Pro485Leu) n.2522C>T c.788C>T (p.Pro263Leu) n.2001C>T c.1114C>T c.1751C>T (p.Pro584Leu) n.908C>T n.989-29C>T c.596C>T (p.Pro199Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.121318380G>C | CA386960181 | ANAPC5 | c.1790C>G (p.Pro597Arg) c.1454C>G (p.Pro485Arg) n.2522C>G c.788C>G (p.Pro263Arg) n.2001C>G c.1114C>G c.1751C>G (p.Pro584Arg) n.908C>G n.989-29C>G c.596C>G (p.Pro199Arg) | |
12 | g.121318380G= | CA2067835473 | ANAPC5 | c.1790C= (p.Pro597=) c.1454C= (p.Pro485=) n.2522C= c.788C= (p.Pro263=) n.2001C= c.1114C= c.1751C= (p.Pro584=) n.908C= n.989-29C= c.596C= (p.Pro199=) | |
12 | g.121318380G>T | CA386960182 | ANAPC5 | c.1790C>A (p.Pro597His) c.1454C>A (p.Pro485His) n.2522C>A c.788C>A (p.Pro263His) n.2001C>A c.1114C>A c.1751C>A (p.Pro584His) n.908C>A n.989-29C>A c.596C>A (p.Pro199His) | |
12 | g.121318381G>A | CA386960186 | ANAPC5 | c.1789C>T (p.Pro597Ser) c.1453C>T (p.Pro485Ser) n.2521C>T c.787C>T (p.Pro263Ser) n.2000C>T c.1113C>T c.1750C>T (p.Pro584Ser) n.907C>T n.989-30C>T c.595C>T (p.Pro199Ser) | |
12 | g.121318381G>C | CA386960192 | ANAPC5 | c.1789C>G (p.Pro597Ala) c.1453C>G (p.Pro485Ala) n.2521C>G c.787C>G (p.Pro263Ala) n.2000C>G c.1113C>G c.1750C>G (p.Pro584Ala) n.907C>G n.989-30C>G c.595C>G (p.Pro199Ala) | |
12 | g.121318381G>T | CA386960196 | ANAPC5 | c.1789C>A (p.Pro597Thr) c.1453C>A (p.Pro485Thr) n.2521C>A c.787C>A (p.Pro263Thr) n.2000C>A c.1113C>A c.1750C>A (p.Pro584Thr) n.907C>A n.989-30C>A c.595C>A (p.Pro199Thr) | |
12 | g.121318382G>A | CA6835164 | ANAPC5 | c.1788C>T (p.Ser596=) c.1452C>T (p.Ser484=) n.2520C>T c.786C>T (p.Ser262=) n.1999C>T c.1112C>T c.1749C>T (p.Ser583=) n.906C>T n.989-31C>T c.594C>T (p.Ser198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.121318382G>C | CA482430312 | ANAPC5 | c.1788C>G (p.Ser596=) c.1452C>G (p.Ser484=) n.2520C>G c.786C>G (p.Ser262=) n.1999C>G c.1112C>G c.1749C>G (p.Ser583=) n.906C>G n.989-31C>G c.594C>G (p.Ser198=) | |
12 | g.121318382G= | CA2067835478 | ANAPC5 | c.1788C= (p.Ser596=) c.1452C= (p.Ser484=) n.2520C= c.786C= (p.Ser262=) n.1999C= c.1112C= c.1749C= (p.Ser583=) n.906C= n.989-31C= c.594C= (p.Ser198=) | |
12 | g.121318382G>T | CA482430311 | ANAPC5 | c.1788C>A (p.Ser596=) c.1452C>A (p.Ser484=) n.2520C>A c.786C>A (p.Ser262=) n.1999C>A c.1112C>A c.1749C>A (p.Ser583=) n.906C>A n.989-31C>A c.594C>A (p.Ser198=) | |
12 | g.121318383G>A | CA386960200 | ANAPC5 | c.1787C>T (p.Ser596Phe) c.1451C>T (p.Ser484Phe) n.2519C>T c.785C>T (p.Ser262Phe) n.1998C>T c.1111C>T c.1748C>T (p.Ser583Phe) n.905C>T n.989-32C>T c.593C>T (p.Ser198Phe) | dbSNP gnomAD v4 |
12 | g.121318383G>C | CA386960207 | ANAPC5 | c.1787C>G (p.Ser596Cys) c.1451C>G (p.Ser484Cys) n.2519C>G c.785C>G (p.Ser262Cys) n.1998C>G c.1111C>G c.1748C>G (p.Ser583Cys) n.905C>G n.989-32C>G c.593C>G (p.Ser198Cys) | |
12 | g.121318383G= | CA2067835482 | ANAPC5 | c.1787C= (p.Ser596=) c.1451C= (p.Ser484=) n.2519C= c.785C= (p.Ser262=) n.1998C= c.1111C= c.1748C= (p.Ser583=) n.905C= n.989-32C= c.593C= (p.Ser198=) | |
12 | g.121318383G>T | CA386960202 | ANAPC5 | c.1787C>A (p.Ser596Tyr) c.1451C>A (p.Ser484Tyr) n.2519C>A c.785C>A (p.Ser262Tyr) n.1998C>A c.1111C>A c.1748C>A (p.Ser583Tyr) n.905C>A n.989-32C>A c.593C>A (p.Ser198Tyr) | |
12 | g.121318384A>C | CA386960209 | ANAPC5 | c.1786T>G (p.Ser596Ala) c.1450T>G (p.Ser484Ala) n.2518T>G c.784T>G (p.Ser262Ala) n.1997T>G c.1110T>G c.1747T>G (p.Ser583Ala) n.904T>G n.989-33T>G c.592T>G (p.Ser198Ala) | |
12 | g.121318384A>G | CA386960210 | ANAPC5 | c.1786T>C (p.Ser596Pro) c.1450T>C (p.Ser484Pro) n.2518T>C c.784T>C (p.Ser262Pro) n.1997T>C c.1110T>C c.1747T>C (p.Ser583Pro) n.904T>C n.989-33T>C c.592T>C (p.Ser198Pro) | |
12 | g.121318384A>T | CA386960211 | ANAPC5 | c.1786T>A (p.Ser596Thr) c.1450T>A (p.Ser484Thr) n.2518T>A c.784T>A (p.Ser262Thr) n.1997T>A c.1110T>A c.1747T>A (p.Ser583Thr) n.904T>A n.989-33T>A c.592T>A (p.Ser198Thr) | |
12 | g.121318385G>A | CA482430313 | ANAPC5 | c.1785C>T (p.Ser595=) c.1449C>T (p.Ser483=) n.2517C>T c.783C>T (p.Ser261=) n.1996C>T c.1109C>T c.1746C>T (p.Ser582=) n.903C>T n.989-34C>T c.591C>T (p.Ser197=) | gnomAD v4 |
12 | g.121318385G>C | CA482430314 | ANAPC5 | c.1785C>G (p.Ser595=) c.1449C>G (p.Ser483=) n.2517C>G c.783C>G (p.Ser261=) n.1996C>G c.1109C>G c.1746C>G (p.Ser582=) n.903C>G n.989-34C>G c.591C>G (p.Ser197=) | |
12 | g.121318385G>T | CA482430315 | ANAPC5 | c.1785C>A (p.Ser595=) c.1449C>A (p.Ser483=) n.2517C>A c.783C>A (p.Ser261=) n.1996C>A c.1109C>A c.1746C>A (p.Ser582=) n.903C>A n.989-34C>A c.591C>A (p.Ser197=) | |
12 | g.121318385_121318388delinsGGAA | CA2067835486 | ANAPC5 | c.1782_1785delinsTTCC (p.Ser594=) c.1446_1449delinsTTCC (p.Ser482=) n.2514_2517delinsTTCC c.780_783delinsTTCC (p.Ser260=) n.1993_1996delinsTTCC c.1106_1109delinsTTCC c.1743_1746delinsTTCC (p.Ser581=) n.900_903delinsTTCC n.989-37_989-34delinsTTCC c.588_591delinsTTCC (p.Ser196=) |