| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 12 | g.121318386G>A | CA386960212 | ANAPC5 | c.1784C>T (p.Ser595Phe) c.1448C>T (p.Ser483Phe) n.2516C>T c.782C>T (p.Ser261Phe) n.1995C>T c.1108C>T c.1745C>T (p.Ser582Phe) n.902C>T n.989-35C>T c.590C>T (p.Ser197Phe) | |
| 12 | g.121318386G>C | CA386960213 | ANAPC5 | c.1784C>G (p.Ser595Cys) c.1448C>G (p.Ser483Cys) n.2516C>G c.782C>G (p.Ser261Cys) n.1995C>G c.1108C>G c.1745C>G (p.Ser582Cys) n.902C>G n.989-35C>G c.590C>G (p.Ser197Cys) | |
| 12 | g.121318386G>T | CA386960215 | ANAPC5 | c.1784C>A (p.Ser595Tyr) c.1448C>A (p.Ser483Tyr) n.2516C>A c.782C>A (p.Ser261Tyr) n.1995C>A c.1108C>A c.1745C>A (p.Ser582Tyr) n.902C>A n.989-35C>A c.590C>A (p.Ser197Tyr) | |
| 12 | g.121318388_121318390del | CA6835165 | ANAPC5 | c.1782_1784del (p.Ser595del) c.1446_1448del (p.Ser483del) n.2514_2516del c.780_782del (p.Ser261del) n.1993_1995del c.1106_1108del c.1743_1745del (p.Ser582del) n.900_902del n.989-37_989-35del c.588_590del (p.Ser197del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121318387A>C | CA386960226 | ANAPC5 | c.1783T>G (p.Ser595Ala) c.1447T>G (p.Ser483Ala) n.2515T>G c.781T>G (p.Ser261Ala) n.1994T>G c.1107T>G c.1744T>G (p.Ser582Ala) n.901T>G n.989-36T>G c.589T>G (p.Ser197Ala) | gnomAD v4 |
| 12 | g.121318387A>G | CA386960229 | ANAPC5 | c.1783T>C (p.Ser595Pro) c.1447T>C (p.Ser483Pro) n.2515T>C c.781T>C (p.Ser261Pro) n.1994T>C c.1107T>C c.1744T>C (p.Ser582Pro) n.901T>C n.989-36T>C c.589T>C (p.Ser197Pro) | |
| 12 | g.121318387A>T | CA386960244 | ANAPC5 | c.1783T>A (p.Ser595Thr) c.1447T>A (p.Ser483Thr) n.2515T>A c.781T>A (p.Ser261Thr) n.1994T>A c.1107T>A c.1744T>A (p.Ser582Thr) n.901T>A n.989-36T>A c.589T>A (p.Ser197Thr) | |
| 12 | g.121318388A= | CA2067835494 | ANAPC5 | c.1782T= (p.Ser594=) c.1446T= (p.Ser482=) n.2514T= c.780T= (p.Ser260=) n.1993T= c.1106T= c.1743T= (p.Ser581=) n.900T= n.989-37T= c.588T= (p.Ser196=) | |
| 12 | g.121318388A>C | CA482430316 | ANAPC5 | c.1782T>G (p.Ser594=) c.1446T>G (p.Ser482=) n.2514T>G c.780T>G (p.Ser260=) n.1993T>G c.1106T>G c.1743T>G (p.Ser581=) n.900T>G n.989-37T>G c.588T>G (p.Ser196=) | |
| 12 | g.121318388A>G | CA6835166 | ANAPC5 | c.1782T>C (p.Ser594=) c.1446T>C (p.Ser482=) n.2514T>C c.780T>C (p.Ser260=) n.1993T>C c.1106T>C c.1743T>C (p.Ser581=) n.900T>C n.989-37T>C c.588T>C (p.Ser196=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.121318388A>T | CA482430317 | ANAPC5 | c.1782T>A (p.Ser594=) c.1446T>A (p.Ser482=) n.2514T>A c.780T>A (p.Ser260=) n.1993T>A c.1106T>A c.1743T>A (p.Ser581=) n.900T>A n.989-37T>A c.588T>A (p.Ser196=) | |
| 12 | g.121318389G>A | CA386960248 | ANAPC5 | c.1781C>T (p.Ser594Phe) c.1445C>T (p.Ser482Phe) n.2513C>T c.779C>T (p.Ser260Phe) n.1992C>T c.1105C>T c.1742C>T (p.Ser581Phe) n.899C>T n.989-38C>T c.587C>T (p.Ser196Phe) | |
| 12 | g.121318389G>C | CA386960250 | ANAPC5 | c.1781C>G (p.Ser594Cys) c.1445C>G (p.Ser482Cys) n.2513C>G c.779C>G (p.Ser260Cys) n.1992C>G c.1105C>G c.1742C>G (p.Ser581Cys) n.899C>G n.989-38C>G c.587C>G (p.Ser196Cys) | |
| 12 | g.121318389G>T | CA386960247 | ANAPC5 | c.1781C>A (p.Ser594Tyr) c.1445C>A (p.Ser482Tyr) n.2513C>A c.779C>A (p.Ser260Tyr) n.1992C>A c.1105C>A c.1742C>A (p.Ser581Tyr) n.899C>A n.989-38C>A c.587C>A (p.Ser196Tyr) | |
| 12 | g.121318390A>C | CA386960256 | ANAPC5 | c.1780T>G (p.Ser594Ala) c.1444T>G (p.Ser482Ala) n.2512T>G c.778T>G (p.Ser260Ala) n.1991T>G c.1104T>G c.1741T>G (p.Ser581Ala) n.898T>G n.989-39T>G c.586T>G (p.Ser196Ala) | gnomAD v4 |
| 12 | g.121318390A>G | CA386960285 | ANAPC5 | c.1780T>C (p.Ser594Pro) c.1444T>C (p.Ser482Pro) n.2512T>C c.778T>C (p.Ser260Pro) n.1991T>C c.1104T>C c.1741T>C (p.Ser581Pro) n.898T>C n.989-39T>C c.586T>C (p.Ser196Pro) | |
| 12 | g.121318390A>T | CA386960284 | ANAPC5 | c.1780T>A (p.Ser594Thr) c.1444T>A (p.Ser482Thr) n.2512T>A c.778T>A (p.Ser260Thr) n.1991T>A c.1104T>A c.1741T>A (p.Ser581Thr) n.898T>A n.989-39T>A c.586T>A (p.Ser196Thr) | |
| 12 | g.121318391T>A | CA482430319 | ANAPC5 | c.1779A>T (p.Arg593=) c.1443A>T (p.Arg481=) n.2511A>T c.777A>T (p.Arg259=) n.1990A>T c.1103A>T c.1740A>T (p.Arg580=) n.897A>T n.989-40A>T c.585A>T (p.Arg195=) | |
| 12 | g.121318391T>C | CA482430320 | ANAPC5 | c.1779A>G (p.Arg593=) c.1443A>G (p.Arg481=) n.2511A>G c.777A>G (p.Arg259=) n.1990A>G c.1103A>G c.1740A>G (p.Arg580=) n.897A>G n.989-40A>G c.585A>G (p.Arg195=) | dbSNP gnomAD v4 |
| 12 | g.121318391T>G | CA482430318 | ANAPC5 | c.1779A>C (p.Arg593=) c.1443A>C (p.Arg481=) n.2511A>C c.777A>C (p.Arg259=) n.1990A>C c.1103A>C c.1740A>C (p.Arg580=) n.897A>C n.989-40A>C c.585A>C (p.Arg195=) | |
| 12 | g.121318391T= | CA2067835500 | ANAPC5 | c.1779A= (p.Arg593=) c.1443A= (p.Arg481=) n.2511A= c.777A= (p.Arg259=) n.1990A= c.1103A= c.1740A= (p.Arg580=) n.897A= n.989-40A= c.585A= (p.Arg195=) | |
| 12 | g.121318392C>A | CA386960293 | ANAPC5 | c.1778G>T (p.Arg593Leu) c.1442G>T (p.Arg481Leu) n.2510G>T c.776G>T (p.Arg259Leu) n.1989G>T c.1102G>T c.1739G>T (p.Arg580Leu) n.896G>T n.989-41G>T c.584G>T (p.Arg195Leu) | gnomAD v4 |
| 12 | g.121318392C= | CA2067835505 | ANAPC5 | c.1778G= (p.Arg593=) c.1442G= (p.Arg481=) n.2510G= c.776G= (p.Arg259=) n.1989G= c.1102G= c.1739G= (p.Arg580=) n.896G= n.989-41G= c.584G= (p.Arg195=) | |
| 12 | g.121318392C>G | CA386960298 | ANAPC5 | c.1778G>C (p.Arg593Pro) c.1442G>C (p.Arg481Pro) n.2510G>C c.776G>C (p.Arg259Pro) n.1989G>C c.1102G>C c.1739G>C (p.Arg580Pro) n.896G>C n.989-41G>C c.584G>C (p.Arg195Pro) | |
| 12 | g.121318392C>T | CA244574808 | ANAPC5 | c.1778G>A (p.Arg593Gln) c.1442G>A (p.Arg481Gln) n.2510G>A c.776G>A (p.Arg259Gln) n.1989G>A c.1102G>A c.1739G>A (p.Arg580Gln) n.896G>A n.989-41G>A c.584G>A (p.Arg195Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121318393G>A | CA6835167 | ANAPC5 | c.1777C>T (p.Arg593Ter) c.1441C>T (p.Arg481Ter) n.2509C>T c.775C>T (p.Arg259Ter) n.1988C>T c.1101C>T c.1738C>T (p.Arg580Ter) n.895C>T n.989-42C>T c.583C>T (p.Arg195Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121318393G>C | CA386960315 | ANAPC5 | c.1777C>G (p.Arg593Gly) c.1441C>G (p.Arg481Gly) n.2509C>G c.775C>G (p.Arg259Gly) n.1988C>G c.1101C>G c.1738C>G (p.Arg580Gly) n.895C>G n.989-42C>G c.583C>G (p.Arg195Gly) | |
| 12 | g.121318393G= | CA2067835510 | ANAPC5 | c.1777C= (p.Arg593=) c.1441C= (p.Arg481=) n.2509C= c.775C= (p.Arg259=) n.1988C= c.1101C= c.1738C= (p.Arg580=) n.895C= n.989-42C= c.583C= (p.Arg195=) | |
| 12 | g.121318393G>T | CA482430321 | ANAPC5 | c.1777C>A (p.Arg593=) c.1441C>A (p.Arg481=) n.2509C>A c.775C>A (p.Arg259=) n.1988C>A c.1101C>A c.1738C>A (p.Arg580=) n.895C>A n.989-42C>A c.583C>A (p.Arg195=) | |
| 12 | g.121318394C>A | CA386960319 | ANAPC5 | c.1776G>T (p.Trp592Cys) c.1440G>T (p.Trp480Cys) n.2508G>T c.774G>T (p.Trp258Cys) n.1987G>T c.1100G>T c.1737G>T (p.Trp579Cys) n.894G>T n.989-43G>T c.582G>T (p.Trp194Cys) | |
| 12 | g.121318394C>G | CA386960325 | ANAPC5 | c.1776G>C (p.Trp592Cys) c.1440G>C (p.Trp480Cys) n.2508G>C c.774G>C (p.Trp258Cys) n.1987G>C c.1100G>C c.1737G>C (p.Trp579Cys) n.894G>C n.989-43G>C c.582G>C (p.Trp194Cys) | |
| 12 | g.121318394C>T | CA386960320 | ANAPC5 | c.1776G>A (p.Trp592Ter) c.1440G>A (p.Trp480Ter) n.2508G>A c.774G>A (p.Trp258Ter) n.1987G>A c.1100G>A c.1737G>A (p.Trp579Ter) n.894G>A n.989-43G>A c.582G>A (p.Trp194Ter) | gnomAD v4 |
| 12 | g.121318395C>A | CA386960326 | ANAPC5 | c.1775G>T (p.Trp592Leu) c.1439G>T (p.Trp480Leu) n.2507G>T c.773G>T (p.Trp258Leu) n.1986G>T c.1099G>T c.1736G>T (p.Trp579Leu) n.893G>T n.989-44G>T c.581G>T (p.Trp194Leu) | |
| 12 | g.121318395C>G | CA386960328 | ANAPC5 | c.1775G>C (p.Trp592Ser) c.1439G>C (p.Trp480Ser) n.2507G>C c.773G>C (p.Trp258Ser) n.1986G>C c.1099G>C c.1736G>C (p.Trp579Ser) n.893G>C n.989-44G>C c.581G>C (p.Trp194Ser) | |
| 12 | g.121318395C>T | CA386960333 | ANAPC5 | c.1775G>A (p.Trp592Ter) c.1439G>A (p.Trp480Ter) n.2507G>A c.773G>A (p.Trp258Ter) n.1986G>A c.1099G>A c.1736G>A (p.Trp579Ter) n.893G>A n.989-44G>A c.581G>A (p.Trp194Ter) | |
| 12 | g.121318396A>C | CA386960335 | ANAPC5 | c.1774T>G (p.Trp592Gly) c.1438T>G (p.Trp480Gly) n.2506T>G c.772T>G (p.Trp258Gly) n.1985T>G c.1098T>G c.1735T>G (p.Trp579Gly) n.892T>G n.989-45T>G c.580T>G (p.Trp194Gly) | |
| 12 | g.121318396A>G | CA386960336 | ANAPC5 | c.1774T>C (p.Trp592Arg) c.1438T>C (p.Trp480Arg) n.2506T>C c.772T>C (p.Trp258Arg) n.1985T>C c.1098T>C c.1735T>C (p.Trp579Arg) n.892T>C n.989-45T>C c.580T>C (p.Trp194Arg) | |
| 12 | g.121318396A>T | CA386960337 | ANAPC5 | c.1774T>A (p.Trp592Arg) c.1438T>A (p.Trp480Arg) n.2506T>A c.772T>A (p.Trp258Arg) n.1985T>A c.1098T>A c.1735T>A (p.Trp579Arg) n.892T>A n.989-45T>A c.580T>A (p.Trp194Arg) | |
| 12 | g.121318397G>A | CA6835168 | ANAPC5 | c.1773C>T (p.Tyr591=) c.1437C>T (p.Tyr479=) n.2505C>T c.771C>T (p.Tyr257=) n.1984C>T c.1097C>T c.1734C>T (p.Tyr578=) n.891C>T n.989-46C>T c.579C>T (p.Tyr193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121318397G>C | CA386960338 | ANAPC5 | c.1773C>G (p.Tyr591Ter) c.1437C>G (p.Tyr479Ter) n.2505C>G c.771C>G (p.Tyr257Ter) n.1984C>G c.1097C>G c.1734C>G (p.Tyr578Ter) n.891C>G n.989-46C>G c.579C>G (p.Tyr193Ter) | |
| 12 | g.121318397G= | CA2067835514 | ANAPC5 | c.1773C= (p.Tyr591=) c.1437C= (p.Tyr479=) n.2505C= c.771C= (p.Tyr257=) n.1984C= c.1097C= c.1734C= (p.Tyr578=) n.891C= n.989-46C= c.579C= (p.Tyr193=) | |
| 12 | g.121318397G>T | CA386960339 | ANAPC5 | c.1773C>A (p.Tyr591Ter) c.1437C>A (p.Tyr479Ter) n.2505C>A c.771C>A (p.Tyr257Ter) n.1984C>A c.1097C>A c.1734C>A (p.Tyr578Ter) n.891C>A n.989-46C>A c.579C>A (p.Tyr193Ter) | |
| 12 | g.121318398T>A | CA386960341 | ANAPC5 | c.1772A>T (p.Tyr591Phe) c.1436A>T (p.Tyr479Phe) n.2504A>T c.770A>T (p.Tyr257Phe) n.1983A>T c.1096A>T c.1733A>T (p.Tyr578Phe) n.890A>T n.989-47A>T c.578A>T (p.Tyr193Phe) | |
| 12 | g.121318398T>C | CA386960343 | ANAPC5 | c.1772A>G (p.Tyr591Cys) c.1436A>G (p.Tyr479Cys) n.2504A>G c.770A>G (p.Tyr257Cys) n.1983A>G c.1096A>G c.1733A>G (p.Tyr578Cys) n.890A>G n.989-47A>G c.578A>G (p.Tyr193Cys) | dbSNP gnomAD v4 |
| 12 | g.121318398T>G | CA386960347 | ANAPC5 | c.1772A>C (p.Tyr591Ser) c.1436A>C (p.Tyr479Ser) n.2504A>C c.770A>C (p.Tyr257Ser) n.1983A>C c.1096A>C c.1733A>C (p.Tyr578Ser) n.890A>C n.989-47A>C c.578A>C (p.Tyr193Ser) | |
| 12 | g.121318398T= | CA2067835518 | ANAPC5 | c.1772A= (p.Tyr591=) c.1436A= (p.Tyr479=) n.2504A= c.770A= (p.Tyr257=) n.1983A= c.1096A= c.1733A= (p.Tyr578=) n.890A= n.989-47A= c.578A= (p.Tyr193=) | |
| 12 | g.121318399A>C | CA386960361 | ANAPC5 | c.1771T>G (p.Tyr591Asp) c.1435T>G (p.Tyr479Asp) n.2503T>G c.769T>G (p.Tyr257Asp) n.1982T>G c.1095T>G c.1732T>G (p.Tyr578Asp) n.889T>G n.989-48T>G c.577T>G (p.Tyr193Asp) | |
| 12 | g.121318399A>G | CA386960353 | ANAPC5 | c.1771T>C (p.Tyr591His) c.1435T>C (p.Tyr479His) n.2503T>C c.769T>C (p.Tyr257His) n.1982T>C c.1095T>C c.1732T>C (p.Tyr578His) n.889T>C n.989-48T>C c.577T>C (p.Tyr193His) | |
| 12 | g.121318399A>T | CA386960356 | ANAPC5 | c.1771T>A (p.Tyr591Asn) c.1435T>A (p.Tyr479Asn) n.2503T>A c.769T>A (p.Tyr257Asn) n.1982T>A c.1095T>A c.1732T>A (p.Tyr578Asn) n.889T>A n.989-48T>A c.577T>A (p.Tyr193Asn) | |
| 12 | g.121318400C>A | CA482430322 | ANAPC5 | c.1770G>T (p.Leu590=) c.1434G>T (p.Leu478=) n.2502G>T c.768G>T (p.Leu256=) n.1981G>T c.1094G>T c.1731G>T (p.Leu577=) n.888G>T n.989-49G>T c.576G>T (p.Leu192=) | COSMIC |
| 12 | g.121318400C>G | CA482430323 | ANAPC5 | c.1770G>C (p.Leu590=) c.1434G>C (p.Leu478=) n.2502G>C c.768G>C (p.Leu256=) n.1981G>C c.1094G>C c.1731G>C (p.Leu577=) n.888G>C n.989-49G>C c.576G>C (p.Leu192=) | |
| 12 | g.121318400C>T | CA482430324 | ANAPC5 | c.1770G>A (p.Leu590=) c.1434G>A (p.Leu478=) n.2502G>A c.768G>A (p.Leu256=) n.1981G>A c.1094G>A c.1731G>A (p.Leu577=) n.888G>A n.989-49G>A c.576G>A (p.Leu192=) | |
| 12 | g.121318401A= | CA2067835521 | ANAPC5 | c.1769T= (p.Leu590=) c.1433T= (p.Leu478=) n.2501T= c.767T= (p.Leu256=) n.1980T= c.1093T= c.1730T= (p.Leu577=) n.887T= n.989-50T= c.575T= (p.Leu192=) | |
| 12 | g.121318401A>C | CA386960363 | ANAPC5 | c.1769T>G (p.Leu590Arg) c.1433T>G (p.Leu478Arg) n.2501T>G c.767T>G (p.Leu256Arg) n.1980T>G c.1093T>G c.1730T>G (p.Leu577Arg) n.887T>G n.989-50T>G c.575T>G (p.Leu192Arg) | |
| 12 | g.121318401A>G | CA386960367 | ANAPC5 | c.1769T>C (p.Leu590Pro) c.1433T>C (p.Leu478Pro) n.2501T>C c.767T>C (p.Leu256Pro) n.1980T>C c.1093T>C c.1730T>C (p.Leu577Pro) n.887T>C n.989-50T>C c.575T>C (p.Leu192Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.121318401A>T | CA386960368 | ANAPC5 | c.1769T>A (p.Leu590Gln) c.1433T>A (p.Leu478Gln) n.2501T>A c.767T>A (p.Leu256Gln) n.1980T>A c.1093T>A c.1730T>A (p.Leu577Gln) n.887T>A n.989-50T>A c.575T>A (p.Leu192Gln) | |
| 12 | g.121318402G>A | CA482430325 | ANAPC5 | c.1768C>T (p.Leu590=) c.1432C>T (p.Leu478=) n.2500C>T c.766C>T (p.Leu256=) n.1979C>T c.1092C>T c.1729C>T (p.Leu577=) n.886C>T n.989-51C>T c.574C>T (p.Leu192=) | |
| 12 | g.121318402G>C | CA386960369 | ANAPC5 | c.1768C>G (p.Leu590Val) c.1432C>G (p.Leu478Val) n.2500C>G c.766C>G (p.Leu256Val) n.1979C>G c.1092C>G c.1729C>G (p.Leu577Val) n.886C>G n.989-51C>G c.574C>G (p.Leu192Val) | |
| 12 | g.121318402G>T | CA386960370 | ANAPC5 | c.1768C>A (p.Leu590Met) c.1432C>A (p.Leu478Met) n.2500C>A c.766C>A (p.Leu256Met) n.1979C>A c.1092C>A c.1729C>A (p.Leu577Met) n.886C>A n.989-51C>A c.574C>A (p.Leu192Met) | |
| 12 | g.121318403C>A | CA386960371 | ANAPC5 | c.1767G>T (p.Glu589Asp) c.1431G>T (p.Glu477Asp) n.2499G>T c.765G>T (p.Glu255Asp) n.1978G>T c.1091G>T c.1728G>T (p.Glu576Asp) n.885G>T n.989-52G>T c.573G>T (p.Glu191Asp) | |
| 12 | g.121318403C= | CA2067835523 | ANAPC5 | c.1767G= (p.Glu589=) c.1431G= (p.Glu477=) n.2499G= c.765G= (p.Glu255=) n.1978G= c.1091G= c.1728G= (p.Glu576=) n.885G= n.989-52G= c.573G= (p.Glu191=) | |
| 12 | g.121318403C>G | CA386960374 | ANAPC5 | c.1767G>C (p.Glu589Asp) c.1431G>C (p.Glu477Asp) n.2499G>C c.765G>C (p.Glu255Asp) n.1978G>C c.1091G>C c.1728G>C (p.Glu576Asp) n.885G>C n.989-52G>C c.573G>C (p.Glu191Asp) | |
| 12 | g.121318403C>T | CA482430326 | ANAPC5 | c.1767G>A (p.Glu589=) c.1431G>A (p.Glu477=) n.2499G>A c.765G>A (p.Glu255=) n.1978G>A c.1091G>A c.1728G>A (p.Glu576=) n.885G>A n.989-52G>A c.573G>A (p.Glu191=) | dbSNP gnomAD v4 |
| 12 | g.121318404T>A | CA386960379 | ANAPC5 | c.1766A>T (p.Glu589Val) c.1430A>T (p.Glu477Val) n.2498A>T c.764A>T (p.Glu255Val) n.1977A>T c.1090A>T c.1727A>T (p.Glu576Val) n.884A>T n.989-53A>T c.572A>T (p.Glu191Val) | |
| 12 | g.121318404T>C | CA386960380 | ANAPC5 | c.1766A>G (p.Glu589Gly) c.1430A>G (p.Glu477Gly) n.2498A>G c.764A>G (p.Glu255Gly) n.1977A>G c.1090A>G c.1727A>G (p.Glu576Gly) n.884A>G n.989-53A>G c.572A>G (p.Glu191Gly) | |
| 12 | g.121318404T>G | CA386960381 | ANAPC5 | c.1766A>C (p.Glu589Ala) c.1430A>C (p.Glu477Ala) n.2498A>C c.764A>C (p.Glu255Ala) n.1977A>C c.1090A>C c.1727A>C (p.Glu576Ala) n.884A>C n.989-53A>C c.572A>C (p.Glu191Ala) | |
| 12 | g.121318405C>A | CA386960385 | ANAPC5 | c.1765G>T (p.Glu589Ter) c.1429G>T (p.Glu477Ter) n.2497G>T c.763G>T (p.Glu255Ter) n.1976G>T c.1090-1G>T c.1726G>T (p.Glu576Ter) n.883G>T n.989-54G>T c.571G>T (p.Glu191Ter) | |
| 12 | g.121318405C>G | CA386960383 | ANAPC5 | c.1765G>C (p.Glu589Gln) c.1429G>C (p.Glu477Gln) n.2497G>C c.763G>C (p.Glu255Gln) n.1976G>C c.1090-1G>C c.1726G>C (p.Glu576Gln) n.883G>C n.989-54G>C c.571G>C (p.Glu191Gln) | |
| 12 | g.121318405C>T | CA386960382 | ANAPC5 | c.1765G>A (p.Glu589Lys) c.1429G>A (p.Glu477Lys) n.2497G>A c.763G>A (p.Glu255Lys) n.1976G>A c.1090-1G>A c.1726G>A (p.Glu576Lys) n.883G>A n.989-54G>A c.571G>A (p.Glu191Lys) | |
| 12 | g.121318406T>A | CA482430327 | ANAPC5 | c.1764A>T (p.Ala588=) c.1428A>T (p.Ala476=) n.2496A>T c.762A>T (p.Ala254=) n.1975A>T c.1090-2A>T c.1725A>T (p.Ala575=) n.882A>T n.989-55A>T c.570A>T (p.Ala190=) | |
| 12 | g.121318406T>C | CA482430328 | ANAPC5 | c.1764A>G (p.Ala588=) c.1428A>G (p.Ala476=) n.2496A>G c.762A>G (p.Ala254=) n.1975A>G c.1090-2A>G c.1725A>G (p.Ala575=) n.882A>G n.989-55A>G c.570A>G (p.Ala190=) | |
| 12 | g.121318406T>G | CA244574824 | ANAPC5 | c.1764A>C (p.Ala588=) c.1428A>C (p.Ala476=) n.2496A>C c.762A>C (p.Ala254=) n.1975A>C c.1090-2A>C c.1725A>C (p.Ala575=) n.882A>C n.989-55A>C c.570A>C (p.Ala190=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121318406T= | CA2067835524 | ANAPC5 | c.1764A= (p.Ala588=) c.1428A= (p.Ala476=) n.2496A= c.762A= (p.Ala254=) n.1975A= c.1090-2A= c.1725A= (p.Ala575=) n.882A= n.989-55A= c.570A= (p.Ala190=) | |
| 12 | g.121318407G>A | CA386960388 | ANAPC5 | c.1763C>T (p.Ala588Val) c.1427C>T (p.Ala476Val) n.2495C>T c.761C>T (p.Ala254Val) n.1974C>T c.1090-3C>T c.1724C>T (p.Ala575Val) n.881C>T n.989-56C>T c.569C>T (p.Ala190Val) | |
| 12 | g.121318407G>C | CA386960393 | ANAPC5 | c.1763C>G (p.Ala588Gly) c.1427C>G (p.Ala476Gly) n.2495C>G c.761C>G (p.Ala254Gly) n.1974C>G c.1090-3C>G c.1724C>G (p.Ala575Gly) n.881C>G n.989-56C>G c.569C>G (p.Ala190Gly) | |
| 12 | g.121318407G>T | CA386960394 | ANAPC5 | c.1763C>A (p.Ala588Glu) c.1427C>A (p.Ala476Glu) n.2495C>A c.761C>A (p.Ala254Glu) n.1974C>A c.1090-3C>A c.1724C>A (p.Ala575Glu) n.881C>A n.989-56C>A c.569C>A (p.Ala190Glu) | |
| 12 | g.121318408C>A | CA386960395 | ANAPC5 | c.1762G>T (p.Ala588Ser) c.1426G>T (p.Ala476Ser) n.2494G>T c.760G>T (p.Ala254Ser) n.1973G>T c.1090-4G>T c.1723G>T (p.Ala575Ser) n.880G>T n.989-57G>T c.568G>T (p.Ala190Ser) | gnomAD v4 |
| 12 | g.121318408C= | CA2067835528 | ANAPC5 | c.1762G= (p.Ala588=) c.1426G= (p.Ala476=) n.2494G= c.760G= (p.Ala254=) n.1973G= c.1090-4G= c.1723G= (p.Ala575=) n.880G= n.989-57G= c.568G= (p.Ala190=) | |
| 12 | g.121318408C>G | CA6835169 | ANAPC5 | c.1762G>C (p.Ala588Pro) c.1426G>C (p.Ala476Pro) n.2494G>C c.760G>C (p.Ala254Pro) n.1973G>C c.1090-4G>C c.1723G>C (p.Ala575Pro) n.880G>C n.989-57G>C c.568G>C (p.Ala190Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121318408C>T | CA386960398 | ANAPC5 | c.1762G>A (p.Ala588Thr) c.1426G>A (p.Ala476Thr) n.2494G>A c.760G>A (p.Ala254Thr) n.1973G>A c.1090-4G>A c.1723G>A (p.Ala575Thr) n.880G>A n.989-57G>A c.568G>A (p.Ala190Thr) | |
| 12 | g.121318409C>A | CA482430330 | ANAPC5 | c.1761G>T (p.Val587=) c.1425G>T (p.Val475=) n.2493G>T c.759G>T (p.Val253=) n.1972G>T c.1090-5G>T c.1722G>T (p.Val574=) n.879G>T n.989-58G>T c.567G>T (p.Val189=) | gnomAD v4 |
| 12 | g.121318409C= | CA2067835533 | ANAPC5 | c.1761G= (p.Val587=) c.1425G= (p.Val475=) n.2493G= c.759G= (p.Val253=) n.1972G= c.1090-5G= c.1722G= (p.Val574=) n.879G= n.989-58G= c.567G= (p.Val189=) | |
| 12 | g.121318409C>G | CA482430329 | ANAPC5 | c.1761G>C (p.Val587=) c.1425G>C (p.Val475=) n.2493G>C c.759G>C (p.Val253=) n.1972G>C c.1090-5G>C c.1722G>C (p.Val574=) n.879G>C n.989-58G>C c.567G>C (p.Val189=) | |
| 12 | g.121318409C>T | CA244574849 | ANAPC5 | c.1761G>A (p.Val587=) c.1425G>A (p.Val475=) n.2493G>A c.759G>A (p.Val253=) n.1972G>A c.1090-5G>A c.1722G>A (p.Val574=) n.879G>A n.989-58G>A c.567G>A (p.Val189=) | dbSNP |
| 12 | g.121318410A>C | CA386960399 | ANAPC5 | c.1760T>G (p.Val587Gly) c.1424T>G (p.Val475Gly) n.2492T>G c.758T>G (p.Val253Gly) n.1971T>G c.1090-6T>G c.1721T>G (p.Val574Gly) n.878T>G n.989-59T>G c.566T>G (p.Val189Gly) | |
| 12 | g.121318410A>G | CA386960402 | ANAPC5 | c.1760T>C (p.Val587Ala) c.1424T>C (p.Val475Ala) n.2492T>C c.758T>C (p.Val253Ala) n.1971T>C c.1090-6T>C c.1721T>C (p.Val574Ala) n.878T>C n.989-59T>C c.566T>C (p.Val189Ala) | |
| 12 | g.121318410A>T | CA386960403 | ANAPC5 | c.1760T>A (p.Val587Glu) c.1424T>A (p.Val475Glu) n.2492T>A c.758T>A (p.Val253Glu) n.1971T>A c.1090-6T>A c.1721T>A (p.Val574Glu) n.878T>A n.989-59T>A c.566T>A (p.Val189Glu) | |
| 12 | g.121318411C>A | CA386960408 | ANAPC5 | c.1759G>T (p.Val587Leu) c.1423G>T (p.Val475Leu) n.2491G>T c.757G>T (p.Val253Leu) n.1970G>T c.1090-7G>T c.1720G>T (p.Val574Leu) n.877G>T n.989-60G>T c.565G>T (p.Val189Leu) | |
| 12 | g.121318411C= | CA2067835538 | ANAPC5 | c.1759G= (p.Val587=) c.1423G= (p.Val475=) n.2491G= c.757G= (p.Val253=) n.1970G= c.1090-7G= c.1720G= (p.Val574=) n.877G= n.989-60G= c.565G= (p.Val189=) | |
| 12 | g.121318411C>G | CA386960412 | ANAPC5 | c.1759G>C (p.Val587Leu) c.1423G>C (p.Val475Leu) n.2491G>C c.757G>C (p.Val253Leu) n.1970G>C c.1090-7G>C c.1720G>C (p.Val574Leu) n.877G>C n.989-60G>C c.565G>C (p.Val189Leu) | gnomAD v4 |
| 12 | g.121318411C>T | CA6835170 | ANAPC5 | c.1759G>A (p.Val587Met) c.1423G>A (p.Val475Met) n.2491G>A c.757G>A (p.Val253Met) n.1970G>A c.1090-7G>A c.1720G>A (p.Val574Met) n.877G>A n.989-60G>A c.565G>A (p.Val189Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121318412G>A | CA6835171 | ANAPC5 | c.1758C>T (p.Ser586=) c.1422C>T (p.Ser474=) n.2490C>T c.756C>T (p.Ser252=) n.1969C>T c.1090-8C>T c.1719C>T (p.Ser573=) n.876C>T n.989-61C>T c.564C>T (p.Ser188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121318412G>C | CA482430332 | ANAPC5 | c.1758C>G (p.Ser586=) c.1422C>G (p.Ser474=) n.2490C>G c.756C>G (p.Ser252=) n.1969C>G c.1090-8C>G c.1719C>G (p.Ser573=) n.876C>G n.989-61C>G c.564C>G (p.Ser188=) | |
| 12 | g.121318412G= | CA2067835542 | ANAPC5 | c.1758C= (p.Ser586=) c.1422C= (p.Ser474=) n.2490C= c.756C= (p.Ser252=) n.1969C= c.1090-8C= c.1719C= (p.Ser573=) n.876C= n.989-61C= c.564C= (p.Ser188=) | |
| 12 | g.121318412G>T | CA482430331 | ANAPC5 | c.1758C>A (p.Ser586=) c.1422C>A (p.Ser474=) n.2490C>A c.756C>A (p.Ser252=) n.1969C>A c.1090-8C>A c.1719C>A (p.Ser573=) n.876C>A n.989-61C>A c.564C>A (p.Ser188=) | |
| 12 | g.121318413G>A | CA386960425 | ANAPC5 | c.1757C>T (p.Ser586Phe) c.1421C>T (p.Ser474Phe) n.2489C>T c.755C>T (p.Ser252Phe) n.1968C>T c.1090-9C>T c.1718C>T (p.Ser573Phe) n.875C>T n.989-62C>T c.563C>T (p.Ser188Phe) | |
| 12 | g.121318413G>C | CA386960421 | ANAPC5 | c.1757C>G (p.Ser586Cys) c.1421C>G (p.Ser474Cys) n.2489C>G c.755C>G (p.Ser252Cys) n.1968C>G c.1090-9C>G c.1718C>G (p.Ser573Cys) n.875C>G n.989-62C>G c.563C>G (p.Ser188Cys) | |
| 12 | g.121318413G>T | CA386960424 | ANAPC5 | c.1757C>A (p.Ser586Tyr) c.1421C>A (p.Ser474Tyr) n.2489C>A c.755C>A (p.Ser252Tyr) n.1968C>A c.1090-9C>A c.1718C>A (p.Ser573Tyr) n.875C>A n.989-62C>A c.563C>A (p.Ser188Tyr) | |
| 12 | g.121318414A>C | CA386960426 | ANAPC5 | c.1756T>G (p.Ser586Ala) c.1420T>G (p.Ser474Ala) n.2488T>G c.754T>G (p.Ser252Ala) n.1967T>G c.1090-10T>G c.1717T>G (p.Ser573Ala) n.874T>G n.989-63T>G c.562T>G (p.Ser188Ala) | |
| 12 | g.121318414A>G | CA386960427 | ANAPC5 | c.1756T>C (p.Ser586Pro) c.1420T>C (p.Ser474Pro) n.2488T>C c.754T>C (p.Ser252Pro) n.1967T>C c.1090-10T>C c.1717T>C (p.Ser573Pro) n.874T>C n.989-63T>C c.562T>C (p.Ser188Pro) | |
| 12 | g.121318414A>T | CA386960428 | ANAPC5 | c.1756T>A (p.Ser586Thr) c.1420T>A (p.Ser474Thr) n.2488T>A c.754T>A (p.Ser252Thr) n.1967T>A c.1090-10T>A c.1717T>A (p.Ser573Thr) n.874T>A n.989-63T>A c.562T>A (p.Ser188Thr) | |
| 12 | g.121318415C>A | CA482430333 | ANAPC5 | c.1755G>T (p.Leu585=) c.1419G>T (p.Leu473=) n.2487G>T c.753G>T (p.Leu251=) n.1966G>T c.1090-11G>T c.1716G>T (p.Leu572=) n.873G>T n.989-64G>T c.561G>T (p.Leu187=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.121318415C= | CA2067835545 | ANAPC5 | c.1755G= (p.Leu585=) c.1419G= (p.Leu473=) n.2487G= c.753G= (p.Leu251=) n.1966G= c.1090-11G= c.1716G= (p.Leu572=) n.873G= n.989-64G= c.561G= (p.Leu187=) | |
| 12 | g.121318415C>G | CA482430334 | ANAPC5 | c.1755G>C (p.Leu585=) c.1419G>C (p.Leu473=) n.2487G>C c.753G>C (p.Leu251=) n.1966G>C c.1090-11G>C c.1716G>C (p.Leu572=) n.873G>C n.989-64G>C c.561G>C (p.Leu187=) | |
| 12 | g.121318415C>T | CA482430335 | ANAPC5 | c.1755G>A (p.Leu585=) c.1419G>A (p.Leu473=) n.2487G>A c.753G>A (p.Leu251=) n.1966G>A c.1090-11G>A c.1716G>A (p.Leu572=) n.873G>A n.989-64G>A c.561G>A (p.Leu187=) | |
| 12 | g.121318416A>C | CA386960431 | ANAPC5 | c.1754T>G (p.Leu585Arg) c.1418T>G (p.Leu473Arg) n.2486T>G c.752T>G (p.Leu251Arg) n.1965T>G c.1090-12T>G c.1715T>G (p.Leu572Arg) n.872T>G n.989-65T>G c.560T>G (p.Leu187Arg) | |
| 12 | g.121318416A>G | CA386960433 | ANAPC5 | c.1754T>C (p.Leu585Pro) c.1418T>C (p.Leu473Pro) n.2486T>C c.752T>C (p.Leu251Pro) n.1965T>C c.1090-12T>C c.1715T>C (p.Leu572Pro) n.872T>C n.989-65T>C c.560T>C (p.Leu187Pro) | |
| 12 | g.121318416A>T | CA386960434 | ANAPC5 | c.1754T>A (p.Leu585Gln) c.1418T>A (p.Leu473Gln) n.2486T>A c.752T>A (p.Leu251Gln) n.1965T>A c.1090-12T>A c.1715T>A (p.Leu572Gln) n.872T>A n.989-65T>A c.560T>A (p.Leu187Gln) |