UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.113064002_113064042delinsGAAAGGCTCTCCCAGGGCTGCACGCTGCAGCCGGCCACGGC | CA1573632491 | MCC | c.1585_1625delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala529=) c.2155_2195delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala719=) c.1396_1436delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala466=) c.1555_1595delinsGCCGTGGCCGGCTGCAGCGTGCAGCCCTGGGAGAGCCTTTC (p.Ala519=) | |
| 5 | g.113064011_113064050del | CA3369999 | MCC | c.1585_1624del (p.Ala529ProfsTer28) c.2155_2194del (p.Ala719ProfsTer28) c.1396_1435del (p.Ala466ProfsTer28) c.1555_1594del (p.Ala519ProfsTer28) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064023A= | CA1573632499 | MCC | c.1604T= (p.Val535=) c.2174T= (p.Val725=) c.1415T= (p.Val472=) c.18T= c.1574T= (p.Val525=) | |
| 5 | g.113064023A>C | CA360626090 | MCC | c.1604T>G (p.Val535Gly) c.2174T>G (p.Val725Gly) c.1415T>G (p.Val472Gly) c.18T>G c.1574T>G (p.Val525Gly) | |
| 5 | g.113064023A>G | CA360626091 | MCC | c.1604T>C (p.Val535Ala) c.2174T>C (p.Val725Ala) c.1415T>C (p.Val472Ala) c.18T>C c.1574T>C (p.Val525Ala) | |
| 5 | g.113064023A>T | CA124994547 | MCC | c.1604T>A (p.Val535Glu) c.2174T>A (p.Val725Glu) c.1415T>A (p.Val472Glu) c.18T>A c.1574T>A (p.Val525Glu) | dbSNP gnomAD v4 |
| 5 | g.113064024C>A | CA360626092 | MCC | c.1603G>T (p.Val535Leu) c.2173G>T (p.Val725Leu) c.1414G>T (p.Val472Leu) c.17G>T c.1573G>T (p.Val525Leu) | gnomAD v4 |
| 5 | g.113064024C= | CA1573632500 | MCC | c.1603G= (p.Val535=) c.2173G= (p.Val725=) c.1414G= (p.Val472=) c.17G= c.1573G= (p.Val525=) | |
| 5 | g.113064024C>G | CA360626093 | MCC | c.1603G>C (p.Val535Leu) c.2173G>C (p.Val725Leu) c.1414G>C (p.Val472Leu) c.17G>C c.1573G>C (p.Val525Leu) | gnomAD v4 |
| 5 | g.113064024C>T | CA3370004 | MCC | c.1603G>A (p.Val535Met) c.2173G>A (p.Val725Met) c.1414G>A (p.Val472Met) c.17G>A c.1573G>A (p.Val525Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064025G>A | CA445979287 | MCC | c.1602C>T (p.Ser534=) c.2172C>T (p.Ser724=) c.1413C>T (p.Ser471=) c.16C>T c.1572C>T (p.Ser524=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064025G>C | CA360626094 | MCC | c.1602C>G (p.Ser534Arg) c.2172C>G (p.Ser724Arg) c.1413C>G (p.Ser471Arg) c.16C>G c.1572C>G (p.Ser524Arg) | |
| 5 | g.113064025G= | CA1573632501 | MCC | c.1602C= (p.Ser534=) c.2172C= (p.Ser724=) c.1413C= (p.Ser471=) c.16C= c.1572C= (p.Ser524=) | |
| 5 | g.113064025G>T | CA360626095 | MCC | c.1602C>A (p.Ser534Arg) c.2172C>A (p.Ser724Arg) c.1413C>A (p.Ser471Arg) c.16C>A c.1572C>A (p.Ser524Arg) | |
| 5 | g.113064026C>A | CA360626096 | MCC | c.1601G>T (p.Ser534Ile) c.2171G>T (p.Ser724Ile) c.1412G>T (p.Ser471Ile) c.15G>T c.1571G>T (p.Ser524Ile) | |
| 5 | g.113064026C= | CA1573632502 | MCC | c.1601G= (p.Ser534=) c.2171G= (p.Ser724=) c.1412G= (p.Ser471=) c.15G= c.1571G= (p.Ser524=) | |
| 5 | g.113064026C>G | CA360626097 | MCC | c.1601G>C (p.Ser534Thr) c.2171G>C (p.Ser724Thr) c.1412G>C (p.Ser471Thr) c.15G>C c.1571G>C (p.Ser524Thr) | |
| 5 | g.113064026C>T | CA124994549 | MCC | c.1601G>A (p.Ser534Asn) c.2171G>A (p.Ser724Asn) c.1412G>A (p.Ser471Asn) c.15G>A c.1571G>A (p.Ser524Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064027T>A | CA360626099 | MCC | c.1600A>T (p.Ser534Cys) c.2170A>T (p.Ser724Cys) c.1411A>T (p.Ser471Cys) c.14A>T c.1570A>T (p.Ser524Cys) | |
| 5 | g.113064027T>C | CA3370005 | MCC | c.1600A>G (p.Ser534Gly) c.2170A>G (p.Ser724Gly) c.1411A>G (p.Ser471Gly) c.14A>G c.1570A>G (p.Ser524Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064027T>G | CA360626098 | MCC | c.1600A>C (p.Ser534Arg) c.2170A>C (p.Ser724Arg) c.1411A>C (p.Ser471Arg) c.14A>C c.1570A>C (p.Ser524Arg) | |
| 5 | g.113064027T= | CA1573632503 | MCC | c.1600A= (p.Ser534=) c.2170A= (p.Ser724=) c.1411A= (p.Ser471=) c.14A= c.1570A= (p.Ser524=) | |
| 5 | g.113064028G>A | CA3370006 | MCC | c.1599C>T (p.Cys533=) c.2169C>T (p.Cys723=) c.1410C>T (p.Cys470=) c.13C>T c.1569C>T (p.Cys523=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064028G>C | CA360626100 | MCC | c.1599C>G (p.Cys533Trp) c.2169C>G (p.Cys723Trp) c.1410C>G (p.Cys470Trp) c.13C>G c.1569C>G (p.Cys523Trp) | |
| 5 | g.113064028G= | CA1573632504 | MCC | c.1599C= (p.Cys533=) c.2169C= (p.Cys723=) c.1410C= (p.Cys470=) c.13C= c.1569C= (p.Cys523=) | |
| 5 | g.113064028G>T | CA360626101 | MCC | c.1599C>A (p.Cys533Ter) c.2169C>A (p.Cys723Ter) c.1410C>A (p.Cys470Ter) c.13C>A c.1569C>A (p.Cys523Ter) | |
| 5 | g.113064029C>A | CA360626102 | MCC | c.1598G>T (p.Cys533Phe) c.2168G>T (p.Cys723Phe) c.1409G>T (p.Cys470Phe) c.12G>T c.1568G>T (p.Cys523Phe) | gnomAD v4 |
| 5 | g.113064029C>G | CA360626103 | MCC | c.1598G>C (p.Cys533Ser) c.2168G>C (p.Cys723Ser) c.1409G>C (p.Cys470Ser) c.12G>C c.1568G>C (p.Cys523Ser) | |
| 5 | g.113064029C>T | CA360626104 | MCC | c.1598G>A (p.Cys533Tyr) c.2168G>A (p.Cys723Tyr) c.1409G>A (p.Cys470Tyr) c.12G>A c.1568G>A (p.Cys523Tyr) | |
| 5 | g.113064030A= | CA1573632505 | MCC | c.1597T= (p.Cys533=) c.2167T= (p.Cys723=) c.1408T= (p.Cys470=) c.11T= c.1567T= (p.Cys523=) | |
| 5 | g.113064030A>C | CA360626105 | MCC | c.1597T>G (p.Cys533Gly) c.2167T>G (p.Cys723Gly) c.1408T>G (p.Cys470Gly) c.11T>G c.1567T>G (p.Cys523Gly) | |
| 5 | g.113064030A>G | CA360626106 | MCC | c.1597T>C (p.Cys533Arg) c.2167T>C (p.Cys723Arg) c.1408T>C (p.Cys470Arg) c.11T>C c.1567T>C (p.Cys523Arg) | |
| 5 | g.113064030A>T | CA360626107 | MCC | c.1597T>A (p.Cys533Ser) c.2167T>A (p.Cys723Ser) c.1408T>A (p.Cys470Ser) c.11T>A c.1567T>A (p.Cys523Ser) | dbSNP gnomAD v4 |
| 5 | g.113064031G>A | CA445979288 | MCC | c.1596C>T (p.Gly532=) c.2166C>T (p.Gly722=) c.1407C>T (p.Gly469=) c.10C>T c.1566C>T (p.Gly522=) | gnomAD v4 |
| 5 | g.113064031G>C | CA445979289 | MCC | c.1596C>G (p.Gly532=) c.2166C>G (p.Gly722=) c.1407C>G (p.Gly469=) c.10C>G c.1566C>G (p.Gly522=) | gnomAD v4 |
| 5 | g.113064031G>T | CA445979290 | MCC | c.1596C>A (p.Gly532=) c.2166C>A (p.Gly722=) c.1407C>A (p.Gly469=) c.10C>A c.1566C>A (p.Gly522=) | |
| 5 | g.113064031_113064032delinsGC | CA1573632506 | MCC | c.1595_1596delinsGC (p.Gly532=) c.2165_2166delinsGC (p.Gly722=) c.1406_1407delinsGC (p.Gly469=) c.9_10delinsGC c.1565_1566delinsGC (p.Gly522=) | |
| 5 | g.113064032C>A | CA360626108 | MCC | c.1595G>T (p.Gly532Val) c.2165G>T (p.Gly722Val) c.1406G>T (p.Gly469Val) c.9G>T c.1565G>T (p.Gly522Val) | |
| 5 | g.113064032C>G | CA360626109 | MCC | c.1595G>C (p.Gly532Ala) c.2165G>C (p.Gly722Ala) c.1406G>C (p.Gly469Ala) c.9G>C c.1565G>C (p.Gly522Ala) | |
| 5 | g.113064032C>T | CA360626110 | MCC | c.1595G>A (p.Gly532Asp) c.2165G>A (p.Gly722Asp) c.1406G>A (p.Gly469Asp) c.9G>A c.1565G>A (p.Gly522Asp) | |
| 5 | g.113064033del | CA3370007 | MCC | c.1595del (p.Gly532AlafsTer?) c.2165del (p.Gly722AlafsTer?) c.1406del (p.Gly469AlafsTer?) c.9del c.1565del (p.Gly522AlafsTer?) | dbSNP ExAC gnomAD v2 |
| 5 | g.113064033C>A | CA360626112 | MCC | c.1594G>T (p.Gly532Cys) c.2164G>T (p.Gly722Cys) c.1405G>T (p.Gly469Cys) c.8G>T c.1564G>T (p.Gly522Cys) | |
| 5 | g.113064033C= | CA1573632507 | MCC | c.1594G= (p.Gly532=) c.2164G= (p.Gly722=) c.1405G= (p.Gly469=) c.8G= c.1564G= (p.Gly522=) | |
| 5 | g.113064033C>G | CA360626111 | MCC | c.1594G>C (p.Gly532Arg) c.2164G>C (p.Gly722Arg) c.1405G>C (p.Gly469Arg) c.8G>C c.1564G>C (p.Gly522Arg) | |
| 5 | g.113064033C>T | CA360626113 | MCC | c.1594G>A (p.Gly532Ser) c.2164G>A (p.Gly722Ser) c.1405G>A (p.Gly469Ser) c.8G>A c.1564G>A (p.Gly522Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064034G>A | CA3370008 | MCC | c.1593C>T (p.Ala531=) c.2163C>T (p.Ala721=) c.1404C>T (p.Ala468=) c.7C>T c.1563C>T (p.Ala521=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064034G>C | CA445979291 | MCC | c.1593C>G (p.Ala531=) c.2163C>G (p.Ala721=) c.1404C>G (p.Ala468=) c.7C>G c.1563C>G (p.Ala521=) | |
| 5 | g.113064034G= | CA1573632508 | MCC | c.1593C= (p.Ala531=) c.2163C= (p.Ala721=) c.1404C= (p.Ala468=) c.7C= c.1563C= (p.Ala521=) | |
| 5 | g.113064034G>T | CA445979292 | MCC | c.1593C>A (p.Ala531=) c.2163C>A (p.Ala721=) c.1404C>A (p.Ala468=) c.7C>A c.1563C>A (p.Ala521=) | |
| 5 | g.113064035G>A | CA360626114 | MCC | c.1592C>T (p.Ala531Val) c.2162C>T (p.Ala721Val) c.1403C>T (p.Ala468Val) c.6C>T c.1562C>T (p.Ala521Val) | gnomAD v4 COSMIC COSMIC |
| 5 | g.113064035G>C | CA360626116 | MCC | c.1592C>G (p.Ala531Gly) c.2162C>G (p.Ala721Gly) c.1403C>G (p.Ala468Gly) c.6C>G c.1562C>G (p.Ala521Gly) | gnomAD v4 |
| 5 | g.113064035G>T | CA360626115 | MCC | c.1592C>A (p.Ala531Asp) c.2162C>A (p.Ala721Asp) c.1403C>A (p.Ala468Asp) c.6C>A c.1562C>A (p.Ala521Asp) | |
| 5 | g.113064036C>A | CA124994558 | MCC | c.1591G>T (p.Ala531Ser) c.2161G>T (p.Ala721Ser) c.1402G>T (p.Ala468Ser) c.5G>T c.1561G>T (p.Ala521Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.113064036C= | CA1573632509 | MCC | c.1591G= (p.Ala531=) c.2161G= (p.Ala721=) c.1402G= (p.Ala468=) c.5G= c.1561G= (p.Ala521=) | |
| 5 | g.113064036C>G | CA360626118 | MCC | c.1591G>C (p.Ala531Pro) c.2161G>C (p.Ala721Pro) c.1402G>C (p.Ala468Pro) c.5G>C c.1561G>C (p.Ala521Pro) | |
| 5 | g.113064036C>T | CA360626117 | MCC | c.1591G>A (p.Ala531Thr) c.2161G>A (p.Ala721Thr) c.1402G>A (p.Ala468Thr) c.5G>A c.1561G>A (p.Ala521Thr) | |
| 5 | g.113064037C>A | CA445979293 | MCC | c.1590G>T (p.Val530=) c.2160G>T (p.Val720=) c.1401G>T (p.Val467=) c.4G>T c.1560G>T (p.Val520=) | |
| 5 | g.113064037C= | CA1573632510 | MCC | c.1590G= (p.Val530=) c.2160G= (p.Val720=) c.1401G= (p.Val467=) c.4G= c.1560G= (p.Val520=) | |
| 5 | g.113064037C>G | CA445979294 | MCC | c.1590G>C (p.Val530=) c.2160G>C (p.Val720=) c.1401G>C (p.Val467=) c.4G>C c.1560G>C (p.Val520=) | |
| 5 | g.113064037C>T | CA445979295 | MCC | c.1590G>A (p.Val530=) c.2160G>A (p.Val720=) c.1401G>A (p.Val467=) c.4G>A c.1560G>A (p.Val520=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.113064038A>C | CA360626119 | MCC | c.1589T>G (p.Val530Gly) c.2159T>G (p.Val720Gly) c.1400T>G (p.Val467Gly) c.3T>G c.1559T>G (p.Val520Gly) | |
| 5 | g.113064038A>G | CA360626121 | MCC | c.1589T>C (p.Val530Ala) c.2159T>C (p.Val720Ala) c.1400T>C (p.Val467Ala) c.3T>C c.1559T>C (p.Val520Ala) | gnomAD v4 |
| 5 | g.113064038A>T | CA360626120 | MCC | c.1589T>A (p.Val530Glu) c.2159T>A (p.Val720Glu) c.1400T>A (p.Val467Glu) c.3T>A c.1559T>A (p.Val520Glu) | |
| 5 | g.113064039C>A | CA360626122 | MCC | c.1588G>T (p.Val530Leu) c.2158G>T (p.Val720Leu) c.1399G>T (p.Val467Leu) c.2G>T c.1558G>T (p.Val520Leu) | |
| 5 | g.113064039C= | CA1573632511 | MCC | c.1588G= (p.Val530=) c.2158G= (p.Val720=) c.1399G= (p.Val467=) c.2G= c.1558G= (p.Val520=) | |
| 5 | g.113064039C>G | CA360626123 | MCC | c.1588G>C (p.Val530Leu) c.2158G>C (p.Val720Leu) c.1399G>C (p.Val467Leu) c.2G>C c.1558G>C (p.Val520Leu) | |
| 5 | g.113064039C>T | CA3370009 | MCC | c.1588G>A (p.Val530Met) c.2158G>A (p.Val720Met) c.1399G>A (p.Val467Met) c.2G>A c.1558G>A (p.Val520Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064040G>A | CA3370010 | MCC | c.1587C>T (p.Ala529=) c.2157C>T (p.Ala719=) c.1398C>T (p.Ala466=) c.1C>T c.1557C>T (p.Ala519=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064040G>C | CA445979296 | MCC | c.1587C>G (p.Ala529=) c.2157C>G (p.Ala719=) c.1398C>G (p.Ala466=) c.1C>G c.1557C>G (p.Ala519=) | dbSNP |
| 5 | g.113064040G= | CA1573632512 | MCC | c.1587C= (p.Ala529=) c.2157C= (p.Ala719=) c.1398C= (p.Ala466=) c.1C= c.1557C= (p.Ala519=) | |
| 5 | g.113064040G>T | CA445979297 | MCC | c.1587C>A (p.Ala529=) c.2157C>A (p.Ala719=) c.1398C>A (p.Ala466=) c.1C>A c.1557C>A (p.Ala519=) | dbSNP |
| 5 | g.113064041G>A | CA3370011 | MCC | c.1586C>T (p.Ala529Val) c.2156C>T (p.Ala719Val) c.1397C>T (p.Ala466Val) c.1556C>T (p.Ala519Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064041G>C | CA360626124 | MCC | c.1586C>G (p.Ala529Gly) c.2156C>G (p.Ala719Gly) c.1397C>G (p.Ala466Gly) c.1556C>G (p.Ala519Gly) | |
| 5 | g.113064041G= | CA1573632513 | MCC | c.1586C= (p.Ala529=) c.2156C= (p.Ala719=) c.1397C= (p.Ala466=) c.1556C= (p.Ala519=) | |
| 5 | g.113064041G>T | CA360626125 | MCC | c.1586C>A (p.Ala529Asp) c.2156C>A (p.Ala719Asp) c.1397C>A (p.Ala466Asp) c.1556C>A (p.Ala519Asp) | |
| 5 | g.113064042del | CA2710021729 | MCC | c.1585del (p.Ala529ProfsTer?) c.2155del (p.Ala719ProfsTer?) c.1396del (p.Ala466ProfsTer?) c.1555del (p.Ala519ProfsTer?) | dbSNP |
| 5 | g.113064042C>A | CA3370012 | MCC | c.1585G>T (p.Ala529Ser) c.2155G>T (p.Ala719Ser) c.1396G>T (p.Ala466Ser) c.1555G>T (p.Ala519Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064042C= | CA1573632514 | MCC | c.1585G= (p.Ala529=) c.2155G= (p.Ala719=) c.1396G= (p.Ala466=) c.1555G= (p.Ala519=) | |
| 5 | g.113064042C>G | CA360626126 | MCC | c.1585G>C (p.Ala529Pro) c.2155G>C (p.Ala719Pro) c.1396G>C (p.Ala466Pro) c.1555G>C (p.Ala519Pro) | |
| 5 | g.113064042C>T | CA3370013 | MCC | c.1585G>A (p.Ala529Thr) c.2155G>A (p.Ala719Thr) c.1396G>A (p.Ala466Thr) c.1555G>A (p.Ala519Thr) | dbSNP ExAC |
| 5 | g.113064043A>C | CA360626127 | MCC | c.1584T>G (p.Phe528Leu) c.2154T>G (p.Phe718Leu) c.1395T>G (p.Phe465Leu) c.1554T>G (p.Phe518Leu) | |
| 5 | g.113064043A>G | CA445979298 | MCC | c.1584T>C (p.Phe528=) c.2154T>C (p.Phe718=) c.1395T>C (p.Phe465=) c.1554T>C (p.Phe518=) | |
| 5 | g.113064043A>T | CA360626128 | MCC | c.1584T>A (p.Phe528Leu) c.2154T>A (p.Phe718Leu) c.1395T>A (p.Phe465Leu) c.1554T>A (p.Phe518Leu) | |
| 5 | g.113064044A>C | CA360626129 | MCC | c.1583T>G (p.Phe528Cys) c.2153T>G (p.Phe718Cys) c.1394T>G (p.Phe465Cys) c.1553T>G (p.Phe518Cys) | |
| 5 | g.113064044A>G | CA360626130 | MCC | c.1583T>C (p.Phe528Ser) c.2153T>C (p.Phe718Ser) c.1394T>C (p.Phe465Ser) c.1553T>C (p.Phe518Ser) | |
| 5 | g.113064044A>T | CA360626131 | MCC | c.1583T>A (p.Phe528Tyr) c.2153T>A (p.Phe718Tyr) c.1394T>A (p.Phe465Tyr) c.1553T>A (p.Phe518Tyr) | |
| 5 | g.113064044_113064046del | CA2674882399 | MCC | c.1581_1583del (p.Phe528del) c.2151_2153del (p.Phe718del) c.1392_1394del (p.Phe465del) c.1551_1553del (p.Phe518del) | gnomAD v4 |
| 5 | g.113064045A>C | CA360626134 | MCC | c.1582T>G (p.Phe528Val) c.2152T>G (p.Phe718Val) c.1393T>G (p.Phe465Val) c.1552T>G (p.Phe518Val) | |
| 5 | g.113064045A>G | CA360626133 | MCC | c.1582T>C (p.Phe528Leu) c.2152T>C (p.Phe718Leu) c.1393T>C (p.Phe465Leu) c.1552T>C (p.Phe518Leu) | |
| 5 | g.113064045A>T | CA360626132 | MCC | c.1582T>A (p.Phe528Ile) c.2152T>A (p.Phe718Ile) c.1393T>A (p.Phe465Ile) c.1552T>A (p.Phe518Ile) | |
| 5 | g.113064046G>A | CA445979299 | MCC | c.1581C>T (p.Ala527=) c.2151C>T (p.Ala717=) c.1392C>T (p.Ala464=) c.1551C>T (p.Ala517=) | |
| 5 | g.113064046G>C | CA445979300 | MCC | c.1581C>G (p.Ala527=) c.2151C>G (p.Ala717=) c.1392C>G (p.Ala464=) c.1551C>G (p.Ala517=) | |
| 5 | g.113064046G>T | CA445979301 | MCC | c.1581C>A (p.Ala527=) c.2151C>A (p.Ala717=) c.1392C>A (p.Ala464=) c.1551C>A (p.Ala517=) | |
| 5 | g.113064047G>A | CA3370014 | MCC | c.1580C>T (p.Ala527Val) c.2150C>T (p.Ala717Val) c.1391C>T (p.Ala464Val) c.1550C>T (p.Ala517Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064047G>C | CA360626135 | MCC | c.1580C>G (p.Ala527Gly) c.2150C>G (p.Ala717Gly) c.1391C>G (p.Ala464Gly) c.1550C>G (p.Ala517Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064047G= | CA1573632515 | MCC | c.1580C= (p.Ala527=) c.2150C= (p.Ala717=) c.1391C= (p.Ala464=) c.1550C= (p.Ala517=) | |
| 5 | g.113064047G>T | CA360626136 | MCC | c.1580C>A (p.Ala527Asp) c.2150C>A (p.Ala717Asp) c.1391C>A (p.Ala464Asp) c.1550C>A (p.Ala517Asp) | gnomAD v4 |
| 5 | g.113064048C>A | CA360626137 | MCC | c.1579G>T (p.Ala527Ser) c.2149G>T (p.Ala717Ser) c.1390G>T (p.Ala464Ser) c.1549G>T (p.Ala517Ser) | dbSNP gnomAD v4 |
| 5 | g.113064048C= | CA1573632516 | MCC | c.1579G= (p.Ala527=) c.2149G= (p.Ala717=) c.1390G= (p.Ala464=) c.1549G= (p.Ala517=) | |
| 5 | g.113064048C>G | CA360626138 | MCC | c.1579G>C (p.Ala527Pro) c.2149G>C (p.Ala717Pro) c.1390G>C (p.Ala464Pro) c.1549G>C (p.Ala517Pro) | gnomAD v4 |
| 5 | g.113064048C>T | CA360626139 | MCC | c.1579G>A (p.Ala527Thr) c.2149G>A (p.Ala717Thr) c.1390G>A (p.Ala464Thr) c.1549G>A (p.Ala517Thr) | gnomAD v4 |
| 5 | g.113064048_113064049insCC | CA2674882400 | MCC | c.1579_1580insGG (p.Ala527GlyfsTer?) c.2149_2150insGG (p.Ala717GlyfsTer?) c.1390_1391insGG (p.Ala464GlyfsTer?) c.1549_1550insGG (p.Ala517GlyfsTer?) | gnomAD v4 |
| 5 | g.113064049T>A | CA445979302 | MCC | c.1578A>T (p.Gly526=) c.2148A>T (p.Gly716=) c.1389A>T (p.Gly463=) c.1548A>T (p.Gly516=) | |
| 5 | g.113064049T>C | CA445979304 | MCC | c.1578A>G (p.Gly526=) c.2148A>G (p.Gly716=) c.1389A>G (p.Gly463=) c.1548A>G (p.Gly516=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064049T>G | CA445979303 | MCC | c.1578A>C (p.Gly526=) c.2148A>C (p.Gly716=) c.1389A>C (p.Gly463=) c.1548A>C (p.Gly516=) | |
| 5 | g.113064049T= | CA1573632517 | MCC | c.1578A= (p.Gly526=) c.2148A= (p.Gly716=) c.1389A= (p.Gly463=) c.1548A= (p.Gly516=) | |
| 5 | g.113064050C>A | CA360626140 | MCC | c.1577G>T (p.Gly526Val) c.2147G>T (p.Gly716Val) c.1388G>T (p.Gly463Val) c.1547G>T (p.Gly516Val) | gnomAD v4 |
| 5 | g.113064050C= | CA1573632518 | MCC | c.1577G= (p.Gly526=) c.2147G= (p.Gly716=) c.1388G= (p.Gly463=) c.1547G= (p.Gly516=) | |
| 5 | g.113064050C>G | CA360626141 | MCC | c.1577G>C (p.Gly526Ala) c.2147G>C (p.Gly716Ala) c.1388G>C (p.Gly463Ala) c.1547G>C (p.Gly516Ala) | gnomAD v4 |
| 5 | g.113064050C>T | CA360626142 | MCC | c.1577G>A (p.Gly526Glu) c.2147G>A (p.Gly716Glu) c.1388G>A (p.Gly463Glu) c.1547G>A (p.Gly516Glu) | dbSNP |
| 5 | g.113064054del | CA2710021732 | MCC | c.1577del (p.Gly526GlufsTer?) c.2147del (p.Gly716GlufsTer?) c.1388del (p.Gly463GlufsTer?) c.1547del (p.Gly516GlufsTer?) | dbSNP |
| 5 | g.113064051C>A | CA360626143 | MCC | c.1576G>T (p.Gly526Ter) c.2146G>T (p.Gly716Ter) c.1387G>T (p.Gly463Ter) c.1546G>T (p.Gly516Ter) | dbSNP |
| 5 | g.113064051C= | CA1573632519 | MCC | c.1576G= (p.Gly526=) c.2146G= (p.Gly716=) c.1387G= (p.Gly463=) c.1546G= (p.Gly516=) | |
| 5 | g.113064051C>G | CA360626144 | MCC | c.1576G>C (p.Gly526Arg) c.2146G>C (p.Gly716Arg) c.1387G>C (p.Gly463Arg) c.1546G>C (p.Gly516Arg) | |
| 5 | g.113064051C>T | CA360626145 | MCC | c.1576G>A (p.Gly526Arg) c.2146G>A (p.Gly716Arg) c.1387G>A (p.Gly463Arg) c.1546G>A (p.Gly516Arg) | gnomAD v4 |
| 5 | g.113064052C>A | CA445979307 | MCC | c.1575G>T (p.Gly525=) c.2145G>T (p.Gly715=) c.1386G>T (p.Gly462=) c.1545G>T (p.Gly515=) | dbSNP |
| 5 | g.113064052C>G | CA445979306 | MCC | c.1575G>C (p.Gly525=) c.2145G>C (p.Gly715=) c.1386G>C (p.Gly462=) c.1545G>C (p.Gly515=) | |
| 5 | g.113064052C>T | CA445979305 | MCC | c.1575G>A (p.Gly525=) c.2145G>A (p.Gly715=) c.1386G>A (p.Gly462=) c.1545G>A (p.Gly515=) | |
| 5 | g.113064053C>A | CA360626146 | MCC | c.1574G>T (p.Gly525Val) c.2144G>T (p.Gly715Val) c.1385G>T (p.Gly462Val) c.1544G>T (p.Gly515Val) | |
| 5 | g.113064053C= | CA1573632520 | MCC | c.1574G= (p.Gly525=) c.2144G= (p.Gly715=) c.1385G= (p.Gly462=) c.1544G= (p.Gly515=) | |
| 5 | g.113064053C>G | CA360626147 | MCC | c.1574G>C (p.Gly525Ala) c.2144G>C (p.Gly715Ala) c.1385G>C (p.Gly462Ala) c.1544G>C (p.Gly515Ala) | |
| 5 | g.113064053C>T | CA124994587 | MCC | c.1574G>A (p.Gly525Glu) c.2144G>A (p.Gly715Glu) c.1385G>A (p.Gly462Glu) c.1544G>A (p.Gly515Glu) | dbSNP gnomAD v4 |
| 5 | g.113064054C>A | CA3370016 | MCC | c.1573G>T (p.Gly525Trp) c.2143G>T (p.Gly715Trp) c.1384G>T (p.Gly462Trp) c.1543G>T (p.Gly515Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064054C= | CA1573632521 | MCC | c.1573G= (p.Gly525=) c.2143G= (p.Gly715=) c.1384G= (p.Gly462=) c.1543G= (p.Gly515=) | |
| 5 | g.113064054C>G | CA3370015 | MCC | c.1573G>C (p.Gly525Arg) c.2143G>C (p.Gly715Arg) c.1384G>C (p.Gly462Arg) c.1543G>C (p.Gly515Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064054C>T | CA3370017 | MCC | c.1573G>A (p.Gly525Arg) c.2143G>A (p.Gly715Arg) c.1384G>A (p.Gly462Arg) c.1543G>A (p.Gly515Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064055A>C | CA360626148 | MCC | c.1572T>G (p.Cys524Trp) c.2142T>G (p.Cys714Trp) c.1383T>G (p.Cys461Trp) c.1542T>G (p.Cys514Trp) | |
| 5 | g.113064055A>G | CA445979308 | MCC | c.1572T>C (p.Cys524=) c.2142T>C (p.Cys714=) c.1383T>C (p.Cys461=) c.1542T>C (p.Cys514=) | gnomAD v4 |
| 5 | g.113064055A>T | CA360626149 | MCC | c.1572T>A (p.Cys524Ter) c.2142T>A (p.Cys714Ter) c.1383T>A (p.Cys461Ter) c.1542T>A (p.Cys514Ter) | |
| 5 | g.113064056C>A | CA360626152 | MCC | c.1571G>T (p.Cys524Phe) c.2141G>T (p.Cys714Phe) c.1382G>T (p.Cys461Phe) c.1541G>T (p.Cys514Phe) | |
| 5 | g.113064056C>G | CA360626150 | MCC | c.1571G>C (p.Cys524Ser) c.2141G>C (p.Cys714Ser) c.1382G>C (p.Cys461Ser) c.1541G>C (p.Cys514Ser) | |
| 5 | g.113064056C>T | CA360626151 | MCC | c.1571G>A (p.Cys524Tyr) c.2141G>A (p.Cys714Tyr) c.1382G>A (p.Cys461Tyr) c.1541G>A (p.Cys514Tyr) | |
| 5 | g.113064056_113064059del | CA2674882401 | MCC | c.1568_1571del (p.Ser523MetfsTer?) c.2138_2141del (p.Ser713MetfsTer?) c.1379_1382del (p.Ser460MetfsTer?) c.1538_1541del (p.Ser513MetfsTer?) | gnomAD v4 |
| 5 | g.113064057A>C | CA360626153 | MCC | c.1570T>G (p.Cys524Gly) c.2140T>G (p.Cys714Gly) c.1381T>G (p.Cys461Gly) c.1540T>G (p.Cys514Gly) | |
| 5 | g.113064057A>G | CA360626154 | MCC | c.1570T>C (p.Cys524Arg) c.2140T>C (p.Cys714Arg) c.1381T>C (p.Cys461Arg) c.1540T>C (p.Cys514Arg) | gnomAD v4 |
| 5 | g.113064057A>T | CA360626155 | MCC | c.1570T>A (p.Cys524Ser) c.2140T>A (p.Cys714Ser) c.1381T>A (p.Cys461Ser) c.1540T>A (p.Cys514Ser) | |
| 5 | g.113064058G>A | CA445979310 | MCC | c.1569C>T (p.Ser523=) c.2139C>T (p.Ser713=) c.1380C>T (p.Ser460=) c.1539C>T (p.Ser513=) | dbSNP gnomAD v4 |
| 5 | g.113064058G>C | CA360626156 | MCC | c.1569C>G (p.Ser523Arg) c.2139C>G (p.Ser713Arg) c.1380C>G (p.Ser460Arg) c.1539C>G (p.Ser513Arg) | |
| 5 | g.113064058G= | CA1573632522 | MCC | c.1569C= (p.Ser523=) c.2139C= (p.Ser713=) c.1380C= (p.Ser460=) c.1539C= (p.Ser513=) | |
| 5 | g.113064058G>T | CA360626157 | MCC | c.1569C>A (p.Ser523Arg) c.2139C>A (p.Ser713Arg) c.1380C>A (p.Ser460Arg) c.1539C>A (p.Ser513Arg) | |
| 5 | g.113064059C>A | CA360626158 | MCC | c.1568G>T (p.Ser523Ile) c.2138G>T (p.Ser713Ile) c.1379G>T (p.Ser460Ile) c.1538G>T (p.Ser513Ile) | |
| 5 | g.113064059C= | CA1573632523 | MCC | c.1568G= (p.Ser523=) c.2138G= (p.Ser713=) c.1379G= (p.Ser460=) c.1538G= (p.Ser513=) | |
| 5 | g.113064059C>G | CA124994639 | MCC | c.1568G>C (p.Ser523Thr) c.2138G>C (p.Ser713Thr) c.1379G>C (p.Ser460Thr) c.1538G>C (p.Ser513Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064059C>T | CA360626159 | MCC | c.1568G>A (p.Ser523Asn) c.2138G>A (p.Ser713Asn) c.1379G>A (p.Ser460Asn) c.1538G>A (p.Ser513Asn) | gnomAD v4 COSMIC COSMIC |
| 5 | g.113064060T>A | CA360626160 | MCC | c.1567A>T (p.Ser523Cys) c.2137A>T (p.Ser713Cys) c.1378A>T (p.Ser460Cys) c.1537A>T (p.Ser513Cys) | |
| 5 | g.113064060T>C | CA360626161 | MCC | c.1567A>G (p.Ser523Gly) c.2137A>G (p.Ser713Gly) c.1378A>G (p.Ser460Gly) c.1537A>G (p.Ser513Gly) | |
| 5 | g.113064060T>G | CA360626162 | MCC | c.1567A>C (p.Ser523Arg) c.2137A>C (p.Ser713Arg) c.1378A>C (p.Ser460Arg) c.1537A>C (p.Ser513Arg) | |
| 5 | g.113064061G>A | CA445979311 | MCC | c.1566C>T (p.Gly522=) c.2136C>T (p.Gly712=) c.1377C>T (p.Gly459=) c.1536C>T (p.Gly512=) | gnomAD v4 |
| 5 | g.113064061G>C | CA445979312 | MCC | c.1566C>G (p.Gly522=) c.2136C>G (p.Gly712=) c.1377C>G (p.Gly459=) c.1536C>G (p.Gly512=) | |
| 5 | g.113064061G= | CA1573632524 | MCC | c.1566C= (p.Gly522=) c.2136C= (p.Gly712=) c.1377C= (p.Gly459=) c.1536C= (p.Gly512=) | |
| 5 | g.113064061G>T | CA445979313 | MCC | c.1566C>A (p.Gly522=) c.2136C>A (p.Gly712=) c.1377C>A (p.Gly459=) c.1536C>A (p.Gly512=) | dbSNP |
| 5 | g.113064062C>A | CA360626163 | MCC | c.1565G>T (p.Gly522Val) c.2135G>T (p.Gly712Val) c.1376G>T (p.Gly459Val) c.1535G>T (p.Gly512Val) | |
| 5 | g.113064062C>G | CA360626164 | MCC | c.1565G>C (p.Gly522Ala) c.2135G>C (p.Gly712Ala) c.1376G>C (p.Gly459Ala) c.1535G>C (p.Gly512Ala) | |
| 5 | g.113064062C>T | CA360626165 | MCC | c.1565G>A (p.Gly522Asp) c.2135G>A (p.Gly712Asp) c.1376G>A (p.Gly459Asp) c.1535G>A (p.Gly512Asp) | |
| 5 | g.113064063C>A | CA360626166 | MCC | c.1564G>T (p.Gly522Cys) c.2134G>T (p.Gly712Cys) c.1375G>T (p.Gly459Cys) c.1534G>T (p.Gly512Cys) | |
| 5 | g.113064063C= | CA1573632525 | MCC | c.1564G= (p.Gly522=) c.2134G= (p.Gly712=) c.1375G= (p.Gly459=) c.1534G= (p.Gly512=) | |
| 5 | g.113064063C>G | CA360626167 | MCC | c.1564G>C (p.Gly522Arg) c.2134G>C (p.Gly712Arg) c.1375G>C (p.Gly459Arg) c.1534G>C (p.Gly512Arg) | |
| 5 | g.113064063C>T | CA3370018 | MCC | c.1564G>A (p.Gly522Ser) c.2134G>A (p.Gly712Ser) c.1375G>A (p.Gly459Ser) c.1534G>A (p.Gly512Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064064G>A | CA3370019 | MCC | c.1563C>T (p.Asp521=) c.2133C>T (p.Asp711=) c.1374C>T (p.Asp458=) c.1533C>T (p.Asp511=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064064G>C | CA360626168 | MCC | c.1563C>G (p.Asp521Glu) c.2133C>G (p.Asp711Glu) c.1374C>G (p.Asp458Glu) c.1533C>G (p.Asp511Glu) | |
| 5 | g.113064064G= | CA1573632526 | MCC | c.1563C= (p.Asp521=) c.2133C= (p.Asp711=) c.1374C= (p.Asp458=) c.1533C= (p.Asp511=) | |
| 5 | g.113064064G>T | CA360626169 | MCC | c.1563C>A (p.Asp521Glu) c.2133C>A (p.Asp711Glu) c.1374C>A (p.Asp458Glu) c.1533C>A (p.Asp511Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064065T>A | CA360626172 | MCC | c.1562A>T (p.Asp521Val) c.2132A>T (p.Asp711Val) c.1373A>T (p.Asp458Val) c.1532A>T (p.Asp511Val) | gnomAD v4 |
| 5 | g.113064065T>C | CA360626171 | MCC | c.1562A>G (p.Asp521Gly) c.2132A>G (p.Asp711Gly) c.1373A>G (p.Asp458Gly) c.1532A>G (p.Asp511Gly) | |
| 5 | g.113064065T>G | CA360626170 | MCC | c.1562A>C (p.Asp521Ala) c.2132A>C (p.Asp711Ala) c.1373A>C (p.Asp458Ala) c.1532A>C (p.Asp511Ala) | |
| 5 | g.113064066C>A | CA360626174 | MCC | c.1561G>T (p.Asp521Tyr) c.2131G>T (p.Asp711Tyr) c.1372G>T (p.Asp458Tyr) c.1531G>T (p.Asp511Tyr) | |
| 5 | g.113064066C>G | CA360626173 | MCC | c.1561G>C (p.Asp521His) c.2131G>C (p.Asp711His) c.1372G>C (p.Asp458His) c.1531G>C (p.Asp511His) | |
| 5 | g.113064066C>T | CA360626175 | MCC | c.1561G>A (p.Asp521Asn) c.2131G>A (p.Asp711Asn) c.1372G>A (p.Asp458Asn) c.1531G>A (p.Asp511Asn) | COSMIC COSMIC |
| 5 | g.113064067C>A | CA445979317 | MCC | c.1560G>T (p.Leu520=) c.2130G>T (p.Leu710=) c.1371G>T (p.Leu457=) c.1530G>T (p.Leu510=) | |
| 5 | g.113064067C= | CA1573632527 | MCC | c.1560G= (p.Leu520=) c.2130G= (p.Leu710=) c.1371G= (p.Leu457=) c.1530G= (p.Leu510=) | |
| 5 | g.113064067C>G | CA445979318 | MCC | c.1560G>C (p.Leu520=) c.2130G>C (p.Leu710=) c.1371G>C (p.Leu457=) c.1530G>C (p.Leu510=) | |
| 5 | g.113064067C>T | CA3370020 | MCC | c.1560G>A (p.Leu520=) c.2130G>A (p.Leu710=) c.1371G>A (p.Leu457=) c.1530G>A (p.Leu510=) | dbSNP ExAC gnomAD v2 |
| 5 | g.113064068A= | CA1573632528 | MCC | c.1559T= (p.Leu520=) c.2129T= (p.Leu710=) c.1370T= (p.Leu457=) c.1529T= (p.Leu510=) | |
| 5 | g.113064068A>C | CA360626176 | MCC | c.1559T>G (p.Leu520Arg) c.2129T>G (p.Leu710Arg) c.1370T>G (p.Leu457Arg) c.1529T>G (p.Leu510Arg) | |
| 5 | g.113064068A>G | CA360626177 | MCC | c.1559T>C (p.Leu520Pro) c.2129T>C (p.Leu710Pro) c.1370T>C (p.Leu457Pro) c.1529T>C (p.Leu510Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064068A>T | CA360626178 | MCC | c.1559T>A (p.Leu520Gln) c.2129T>A (p.Leu710Gln) c.1370T>A (p.Leu457Gln) c.1529T>A (p.Leu510Gln) | |
| 5 | g.113064069G>A | CA445979319 | MCC | c.1558C>T (p.Leu520=) c.2128C>T (p.Leu710=) c.1369C>T (p.Leu457=) c.1528C>T (p.Leu510=) | gnomAD v4 |
| 5 | g.113064069G>C | CA360626179 | MCC | c.1558C>G (p.Leu520Val) c.2128C>G (p.Leu710Val) c.1369C>G (p.Leu457Val) c.1528C>G (p.Leu510Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064069G= | CA1573632529 | MCC | c.1558C= (p.Leu520=) c.2128C= (p.Leu710=) c.1369C= (p.Leu457=) c.1528C= (p.Leu510=) | |
| 5 | g.113064069G>T | CA360626180 | MCC | c.1558C>A (p.Leu520Met) c.2128C>A (p.Leu710Met) c.1369C>A (p.Leu457Met) c.1528C>A (p.Leu510Met) | |
| 5 | g.113064070C>A | CA360626182 | MCC | c.1557G>T (p.Lys519Asn) c.2127G>T (p.Lys709Asn) c.1368G>T (p.Lys456Asn) c.1527G>T (p.Lys509Asn) | |
| 5 | g.113064070C>G | CA360626181 | MCC | c.1557G>C (p.Lys519Asn) c.2127G>C (p.Lys709Asn) c.1368G>C (p.Lys456Asn) c.1527G>C (p.Lys509Asn) | |
| 5 | g.113064070C>T | CA445979320 | MCC | c.1557G>A (p.Lys519=) c.2127G>A (p.Lys709=) c.1368G>A (p.Lys456=) c.1527G>A (p.Lys509=) | |
| 5 | g.113064071T>A | CA360626183 | MCC | c.1556A>T (p.Lys519Met) c.2126A>T (p.Lys709Met) c.1367A>T (p.Lys456Met) c.1526A>T (p.Lys509Met) | |
| 5 | g.113064071T>C | CA360626184 | MCC | c.1556A>G (p.Lys519Arg) c.2126A>G (p.Lys709Arg) c.1367A>G (p.Lys456Arg) c.1526A>G (p.Lys509Arg) | |
| 5 | g.113064071T>G | CA360626185 | MCC | c.1556A>C (p.Lys519Thr) c.2126A>C (p.Lys709Thr) c.1367A>C (p.Lys456Thr) c.1526A>C (p.Lys509Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064071T= | CA1573632530 | MCC | c.1556A= (p.Lys519=) c.2126A= (p.Lys709=) c.1367A= (p.Lys456=) c.1526A= (p.Lys509=) | |
| 5 | g.113064072T>A | CA360626186 | MCC | c.1555A>T (p.Lys519Ter) c.2125A>T (p.Lys709Ter) c.1366A>T (p.Lys456Ter) c.1525A>T (p.Lys509Ter) | |
| 5 | g.113064072T>C | CA360626187 | MCC | c.1555A>G (p.Lys519Glu) c.2125A>G (p.Lys709Glu) c.1366A>G (p.Lys456Glu) c.1525A>G (p.Lys509Glu) | |
| 5 | g.113064072T>G | CA3370021 | MCC | c.1555A>C (p.Lys519Gln) c.2125A>C (p.Lys709Gln) c.1366A>C (p.Lys456Gln) c.1525A>C (p.Lys509Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064072T= | CA1573632531 | MCC | c.1555A= (p.Lys519=) c.2125A= (p.Lys709=) c.1366A= (p.Lys456=) c.1525A= (p.Lys509=) | |
| 5 | g.113064073C>A | CA360626188 | MCC | c.1554G>T (p.Met518Ile) c.2124G>T (p.Met708Ile) c.1365G>T (p.Met455Ile) c.1524G>T (p.Met508Ile) | |
| 5 | g.113064073C>G | CA360626190 | MCC | c.1554G>C (p.Met518Ile) c.2124G>C (p.Met708Ile) c.1365G>C (p.Met455Ile) c.1524G>C (p.Met508Ile) | |
| 5 | g.113064073C>T | CA360626189 | MCC | c.1554G>A (p.Met518Ile) c.2124G>A (p.Met708Ile) c.1365G>A (p.Met455Ile) c.1524G>A (p.Met508Ile) | gnomAD v4 |
| 5 | g.113064074A>C | CA360626191 | MCC | c.1553T>G (p.Met518Arg) c.2123T>G (p.Met708Arg) c.1364T>G (p.Met455Arg) c.1523T>G (p.Met508Arg) | |
| 5 | g.113064074A>G | CA360626192 | MCC | c.1553T>C (p.Met518Thr) c.2123T>C (p.Met708Thr) c.1364T>C (p.Met455Thr) c.1523T>C (p.Met508Thr) | gnomAD v4 COSMIC COSMIC |
| 5 | g.113064074A>T | CA360626193 | MCC | c.1553T>A (p.Met518Lys) c.2123T>A (p.Met708Lys) c.1364T>A (p.Met455Lys) c.1523T>A (p.Met508Lys) | |
| 5 | g.113064075T>A | CA360626194 | MCC | c.1552A>T (p.Met518Leu) c.2122A>T (p.Met708Leu) c.1363A>T (p.Met455Leu) c.1522A>T (p.Met508Leu) | |
| 5 | g.113064075T>C | CA360626195 | MCC | c.1552A>G (p.Met518Val) c.2122A>G (p.Met708Val) c.1363A>G (p.Met455Val) c.1522A>G (p.Met508Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064075T>G | CA360626196 | MCC | c.1552A>C (p.Met518Leu) c.2122A>C (p.Met708Leu) c.1363A>C (p.Met455Leu) c.1522A>C (p.Met508Leu) | |
| 5 | g.113064075T= | CA1573632532 | MCC | c.1552A= (p.Met518=) c.2122A= (p.Met708=) c.1363A= (p.Met455=) c.1522A= (p.Met508=) | |
| 5 | g.113064076G>A | CA3370022 | MCC | c.1551C>T (p.Leu517=) c.2121C>T (p.Leu707=) c.1362C>T (p.Leu454=) c.1521C>T (p.Leu507=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064076G>C | CA445979327 | MCC | c.1551C>G (p.Leu517=) c.2121C>G (p.Leu707=) c.1362C>G (p.Leu454=) c.1521C>G (p.Leu507=) | gnomAD v4 |
| 5 | g.113064076G= | CA1573632533 | MCC | c.1551C= (p.Leu517=) c.2121C= (p.Leu707=) c.1362C= (p.Leu454=) c.1521C= (p.Leu507=) | |
| 5 | g.113064076G>T | CA445979329 | MCC | c.1551C>A (p.Leu517=) c.2121C>A (p.Leu707=) c.1362C>A (p.Leu454=) c.1521C>A (p.Leu507=) | |
| 5 | g.113064077A>C | CA360626197 | MCC | c.1550T>G (p.Leu517Arg) c.2120T>G (p.Leu707Arg) c.1361T>G (p.Leu454Arg) c.1520T>G (p.Leu507Arg) | |
| 5 | g.113064077A>G | CA360626198 | MCC | c.1550T>C (p.Leu517Pro) c.2120T>C (p.Leu707Pro) c.1361T>C (p.Leu454Pro) c.1520T>C (p.Leu507Pro) | |
| 5 | g.113064077A>T | CA360626199 | MCC | c.1550T>A (p.Leu517His) c.2120T>A (p.Leu707His) c.1361T>A (p.Leu454His) c.1520T>A (p.Leu507His) | |
| 5 | g.113064078G>A | CA360626202 | MCC | c.1549C>T (p.Leu517Phe) c.2119C>T (p.Leu707Phe) c.1360C>T (p.Leu454Phe) c.1519C>T (p.Leu507Phe) | dbSNP |
| 5 | g.113064078G>C | CA360626201 | MCC | c.1549C>G (p.Leu517Val) c.2119C>G (p.Leu707Val) c.1360C>G (p.Leu454Val) c.1519C>G (p.Leu507Val) | |
| 5 | g.113064078G= | CA1573632534 | MCC | c.1549C= (p.Leu517=) c.2119C= (p.Leu707=) c.1360C= (p.Leu454=) c.1519C= (p.Leu507=) | |
| 5 | g.113064078G>T | CA360626200 | MCC | c.1549C>A (p.Leu517Ile) c.2119C>A (p.Leu707Ile) c.1360C>A (p.Leu454Ile) c.1519C>A (p.Leu507Ile) | |
| 5 | g.113064079C>A | CA445979333 | MCC | c.1548G>T (p.Leu516=) c.2118G>T (p.Leu706=) c.1359G>T (p.Leu453=) c.1518G>T (p.Leu506=) | |
| 5 | g.113064079C>G | CA445979334 | MCC | c.1548G>C (p.Leu516=) c.2118G>C (p.Leu706=) c.1359G>C (p.Leu453=) c.1518G>C (p.Leu506=) | gnomAD v4 |
| 5 | g.113064079C>T | CA445979335 | MCC | c.1548G>A (p.Leu516=) c.2118G>A (p.Leu706=) c.1359G>A (p.Leu453=) c.1518G>A (p.Leu506=) | |
| 5 | g.113064080A>C | CA360626203 | MCC | c.1547T>G (p.Leu516Arg) c.2117T>G (p.Leu706Arg) c.1358T>G (p.Leu453Arg) c.1517T>G (p.Leu506Arg) | |
| 5 | g.113064080A>G | CA360626204 | MCC | c.1547T>C (p.Leu516Pro) c.2117T>C (p.Leu706Pro) c.1358T>C (p.Leu453Pro) c.1517T>C (p.Leu506Pro) | |
| 5 | g.113064080A>T | CA360626205 | MCC | c.1547T>A (p.Leu516Gln) c.2117T>A (p.Leu706Gln) c.1358T>A (p.Leu453Gln) c.1517T>A (p.Leu506Gln) | gnomAD v4 |
| 5 | g.113064081G>A | CA445979337 | MCC | c.1546C>T (p.Leu516=) c.2116C>T (p.Leu706=) c.1357C>T (p.Leu453=) c.1516C>T (p.Leu506=) | gnomAD v4 |
| 5 | g.113064081G>C | CA360626206 | MCC | c.1546C>G (p.Leu516Val) c.2116C>G (p.Leu706Val) c.1357C>G (p.Leu453Val) c.1516C>G (p.Leu506Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.113064081G= | CA1573632535 | MCC | c.1546C= (p.Leu516=) c.2116C= (p.Leu706=) c.1357C= (p.Leu453=) c.1516C= (p.Leu506=) | |
| 5 | g.113064081G>T | CA360626207 | MCC | c.1546C>A (p.Leu516Met) c.2116C>A (p.Leu706Met) c.1357C>A (p.Leu453Met) c.1516C>A (p.Leu506Met) | |
| 5 | g.113064082G>A | CA124994697 | MCC | c.1545C>T (p.Ala515=) c.2115C>T (p.Ala705=) c.1356C>T (p.Ala452=) c.1515C>T (p.Ala505=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064082G>C | CA445979338 | MCC | c.1545C>G (p.Ala515=) c.2115C>G (p.Ala705=) c.1356C>G (p.Ala452=) c.1515C>G (p.Ala505=) | |
| 5 | g.113064082G= | CA1573632536 | MCC | c.1545C= (p.Ala515=) c.2115C= (p.Ala705=) c.1356C= (p.Ala452=) c.1515C= (p.Ala505=) | |
| 5 | g.113064082G>T | CA445979340 | MCC | c.1545C>A (p.Ala515=) c.2115C>A (p.Ala705=) c.1356C>A (p.Ala452=) c.1515C>A (p.Ala505=) | |
| 5 | g.113064083G>A | CA360626208 | MCC | c.1544C>T (p.Ala515Val) c.2114C>T (p.Ala705Val) c.1355C>T (p.Ala452Val) c.1514C>T (p.Ala505Val) | dbSNP |
| 5 | g.113064083G>C | CA3370023 | MCC | c.1544C>G (p.Ala515Gly) c.2114C>G (p.Ala705Gly) c.1355C>G (p.Ala452Gly) c.1514C>G (p.Ala505Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064083G= | CA1573632537 | MCC | c.1544C= (p.Ala515=) c.2114C= (p.Ala705=) c.1355C= (p.Ala452=) c.1514C= (p.Ala505=) | |
| 5 | g.113064083G>T | CA360626209 | MCC | c.1544C>A (p.Ala515Asp) c.2114C>A (p.Ala705Asp) c.1355C>A (p.Ala452Asp) c.1514C>A (p.Ala505Asp) | |
| 5 | g.113064084C>A | CA360626210 | MCC | c.1543G>T (p.Ala515Ser) c.2113G>T (p.Ala705Ser) c.1354G>T (p.Ala452Ser) c.1513G>T (p.Ala505Ser) | gnomAD v4 |
| 5 | g.113064084C>G | CA360626211 | MCC | c.1543G>C (p.Ala515Pro) c.2113G>C (p.Ala705Pro) c.1354G>C (p.Ala452Pro) c.1513G>C (p.Ala505Pro) | |
| 5 | g.113064084C>T | CA360626212 | MCC | c.1543G>A (p.Ala515Thr) c.2113G>A (p.Ala705Thr) c.1354G>A (p.Ala452Thr) c.1513G>A (p.Ala505Thr) | gnomAD v4 |
| 5 | g.113064085dup | CA2578380796 | MCC | c.1543dup (p.Ala515GlyfsTer?) c.2113dup (p.Ala705GlyfsTer?) c.1354dup (p.Ala452GlyfsTer?) c.1513dup (p.Ala505GlyfsTer?) | gnomAD v4 |
| 5 | g.113064085C>A | CA360626213 | MCC | c.1542G>T (p.Lys514Asn) c.2112G>T (p.Lys704Asn) c.1353G>T (p.Lys451Asn) c.1512G>T (p.Lys504Asn) | |
| 5 | g.113064085C>G | CA360626214 | MCC | c.1542G>C (p.Lys514Asn) c.2112G>C (p.Lys704Asn) c.1353G>C (p.Lys451Asn) c.1512G>C (p.Lys504Asn) | |
| 5 | g.113064085C>T | CA445979348 | MCC | c.1542G>A (p.Lys514=) c.2112G>A (p.Lys704=) c.1353G>A (p.Lys451=) c.1512G>A (p.Lys504=) | |
| 5 | g.113064086T>A | CA360626217 | MCC | c.1541A>T (p.Lys514Met) c.2111A>T (p.Lys704Met) c.1352A>T (p.Lys451Met) c.1511A>T (p.Lys504Met) | dbSNP gnomAD v2 |
| 5 | g.113064086T>C | CA360626215 | MCC | c.1541A>G (p.Lys514Arg) c.2111A>G (p.Lys704Arg) c.1352A>G (p.Lys451Arg) c.1511A>G (p.Lys504Arg) | |
| 5 | g.113064086T>G | CA360626216 | MCC | c.1541A>C (p.Lys514Thr) c.2111A>C (p.Lys704Thr) c.1352A>C (p.Lys451Thr) c.1511A>C (p.Lys504Thr) | |
| 5 | g.113064086T= | CA1573632538 | MCC | c.1541A= (p.Lys514=) c.2111A= (p.Lys704=) c.1352A= (p.Lys451=) c.1511A= (p.Lys504=) | |
| 5 | g.113064087T>A | CA360626218 | MCC | c.1540A>T (p.Lys514Ter) c.2110A>T (p.Lys704Ter) c.1351A>T (p.Lys451Ter) c.1510A>T (p.Lys504Ter) | |
| 5 | g.113064087T>C | CA360626219 | MCC | c.1540A>G (p.Lys514Glu) c.2110A>G (p.Lys704Glu) c.1351A>G (p.Lys451Glu) c.1510A>G (p.Lys504Glu) | |
| 5 | g.113064087T>G | CA360626220 | MCC | c.1540A>C (p.Lys514Gln) c.2110A>C (p.Lys704Gln) c.1351A>C (p.Lys451Gln) c.1510A>C (p.Lys504Gln) | |
| 5 | g.113064088G>A | CA445979350 | MCC | c.1539C>T (p.Ala513=) c.2109C>T (p.Ala703=) c.1350C>T (p.Ala450=) c.1509C>T (p.Ala503=) | |
| 5 | g.113064088G>C | CA3370024 | MCC | c.1539C>G (p.Ala513=) c.2109C>G (p.Ala703=) c.1350C>G (p.Ala450=) c.1509C>G (p.Ala503=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064088G= | CA1573632539 | MCC | c.1539C= (p.Ala513=) c.2109C= (p.Ala703=) c.1350C= (p.Ala450=) c.1509C= (p.Ala503=) | |
| 5 | g.113064088G>T | CA445979354 | MCC | c.1539C>A (p.Ala513=) c.2109C>A (p.Ala703=) c.1350C>A (p.Ala450=) c.1509C>A (p.Ala503=) | |
| 5 | g.113064089G>A | CA3370025 | MCC | c.1538C>T (p.Ala513Val) c.2108C>T (p.Ala703Val) c.1349C>T (p.Ala450Val) c.1508C>T (p.Ala503Val) | dbSNP ExAC gnomAD v4 |
| 5 | g.113064089G>C | CA360626221 | MCC | c.1538C>G (p.Ala513Gly) c.2108C>G (p.Ala703Gly) c.1349C>G (p.Ala450Gly) c.1508C>G (p.Ala503Gly) | |
| 5 | g.113064089G= | CA1573632540 | MCC | c.1538C= (p.Ala513=) c.2108C= (p.Ala703=) c.1349C= (p.Ala450=) c.1508C= (p.Ala503=) | |
| 5 | g.113064089G>T | CA360626222 | MCC | c.1538C>A (p.Ala513Asp) c.2108C>A (p.Ala703Asp) c.1349C>A (p.Ala450Asp) c.1508C>A (p.Ala503Asp) | |
| 5 | g.113064090C>A | CA360626223 | MCC | c.1537G>T (p.Ala513Ser) c.2107G>T (p.Ala703Ser) c.1348G>T (p.Ala450Ser) c.1507G>T (p.Ala503Ser) | |
| 5 | g.113064090C>G | CA360626224 | MCC | c.1537G>C (p.Ala513Pro) c.2107G>C (p.Ala703Pro) c.1348G>C (p.Ala450Pro) c.1507G>C (p.Ala503Pro) | |
| 5 | g.113064090C>T | CA360626225 | MCC | c.1537G>A (p.Ala513Thr) c.2107G>A (p.Ala703Thr) c.1348G>A (p.Ala450Thr) c.1507G>A (p.Ala503Thr) | |
| 5 | g.113064091A>C | CA445979359 | MCC | c.1536T>G (p.Ala512=) c.2106T>G (p.Ala702=) c.1347T>G (p.Ala449=) c.1506T>G (p.Ala502=) | |
| 5 | g.113064091A>G | CA445979360 | MCC | c.1536T>C (p.Ala512=) c.2106T>C (p.Ala702=) c.1347T>C (p.Ala449=) c.1506T>C (p.Ala502=) | |
| 5 | g.113064091A>T | CA445979358 | MCC | c.1536T>A (p.Ala512=) c.2106T>A (p.Ala702=) c.1347T>A (p.Ala449=) c.1506T>A (p.Ala502=) | |
| 5 | g.113064092G>A | CA360626226 | MCC | c.1535C>T (p.Ala512Val) c.2105C>T (p.Ala702Val) c.1346C>T (p.Ala449Val) c.1505C>T (p.Ala502Val) | |
| 5 | g.113064092G>C | CA360626227 | MCC | c.1535C>G (p.Ala512Gly) c.2105C>G (p.Ala702Gly) c.1346C>G (p.Ala449Gly) c.1505C>G (p.Ala502Gly) | |
| 5 | g.113064092G>T | CA360626228 | MCC | c.1535C>A (p.Ala512Asp) c.2105C>A (p.Ala702Asp) c.1346C>A (p.Ala449Asp) c.1505C>A (p.Ala502Asp) | |
| 5 | g.113064093C>A | CA360626230 | MCC | c.1534G>T (p.Ala512Ser) c.2104G>T (p.Ala702Ser) c.1345G>T (p.Ala449Ser) c.1504G>T (p.Ala502Ser) | |
| 5 | g.113064093C= | CA1573632541 | MCC | c.1534G= (p.Ala512=) c.2104G= (p.Ala702=) c.1345G= (p.Ala449=) c.1504G= (p.Ala502=) | |
| 5 | g.113064093C>G | CA360626229 | MCC | c.1534G>C (p.Ala512Pro) c.2104G>C (p.Ala702Pro) c.1345G>C (p.Ala449Pro) c.1504G>C (p.Ala502Pro) | |
| 5 | g.113064093C>T | CA124994721 | MCC | c.1534G>A (p.Ala512Thr) c.2104G>A (p.Ala702Thr) c.1345G>A (p.Ala449Thr) c.1504G>A (p.Ala502Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064094G>A | CA3370026 | MCC | c.1533C>T (p.Asn511=) c.2103C>T (p.Asn701=) c.1344C>T (p.Asn448=) c.1503C>T (p.Asn501=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064094G>C | CA360626231 | MCC | c.1533C>G (p.Asn511Lys) c.2103C>G (p.Asn701Lys) c.1344C>G (p.Asn448Lys) c.1503C>G (p.Asn501Lys) | dbSNP |
| 5 | g.113064094G= | CA1573632542 | MCC | c.1533C= (p.Asn511=) c.2103C= (p.Asn701=) c.1344C= (p.Asn448=) c.1503C= (p.Asn501=) | |
| 5 | g.113064094G>T | CA360626232 | MCC | c.1533C>A (p.Asn511Lys) c.2103C>A (p.Asn701Lys) c.1344C>A (p.Asn448Lys) c.1503C>A (p.Asn501Lys) | dbSNP |
| 5 | g.113064095T>A | CA360626233 | MCC | c.1532A>T (p.Asn511Ile) c.2102A>T (p.Asn701Ile) c.1343A>T (p.Asn448Ile) c.1502A>T (p.Asn501Ile) | |
| 5 | g.113064095T>C | CA360626234 | MCC | c.1532A>G (p.Asn511Ser) c.2102A>G (p.Asn701Ser) c.1343A>G (p.Asn448Ser) c.1502A>G (p.Asn501Ser) | gnomAD v4 |
| 5 | g.113064095T>G | CA360626235 | MCC | c.1532A>C (p.Asn511Thr) c.2102A>C (p.Asn701Thr) c.1343A>C (p.Asn448Thr) c.1502A>C (p.Asn501Thr) | |
| 5 | g.113064096T>A | CA360626236 | MCC | c.1531A>T (p.Asn511Tyr) c.2101A>T (p.Asn701Tyr) c.1342A>T (p.Asn448Tyr) c.1501A>T (p.Asn501Tyr) | gnomAD v4 |
| 5 | g.113064096T>C | CA360626237 | MCC | c.1531A>G (p.Asn511Asp) c.2101A>G (p.Asn701Asp) c.1342A>G (p.Asn448Asp) c.1501A>G (p.Asn501Asp) | gnomAD v4 |
| 5 | g.113064096T>G | CA360626238 | MCC | c.1531A>C (p.Asn511His) c.2101A>C (p.Asn701His) c.1342A>C (p.Asn448His) c.1501A>C (p.Asn501His) | |
| 5 | g.113064097C>A | CA360626239 | MCC | c.1530G>T (p.Glu510Asp) c.2100G>T (p.Glu700Asp) c.1341G>T (p.Glu447Asp) c.1500G>T (p.Glu500Asp) | |
| 5 | g.113064097C>G | CA360626240 | MCC | c.1530G>C (p.Glu510Asp) c.2100G>C (p.Glu700Asp) c.1341G>C (p.Glu447Asp) c.1500G>C (p.Glu500Asp) | |
| 5 | g.113064097C>T | CA445979364 | MCC | c.1530G>A (p.Glu510=) c.2100G>A (p.Glu700=) c.1341G>A (p.Glu447=) c.1500G>A (p.Glu500=) | gnomAD v4 |
| 5 | g.113064098T>A | CA360626241 | MCC | c.1529A>T (p.Glu510Val) c.2099A>T (p.Glu700Val) c.1340A>T (p.Glu447Val) c.1499A>T (p.Glu500Val) | |
| 5 | g.113064098T>C | CA3370027 | MCC | c.1529A>G (p.Glu510Gly) c.2099A>G (p.Glu700Gly) c.1340A>G (p.Glu447Gly) c.1499A>G (p.Glu500Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064098T>G | CA360626242 | MCC | c.1529A>C (p.Glu510Ala) c.2099A>C (p.Glu700Ala) c.1340A>C (p.Glu447Ala) c.1499A>C (p.Glu500Ala) | |
| 5 | g.113064098T= | CA1573632543 | MCC | c.1529A= (p.Glu510=) c.2099A= (p.Glu700=) c.1340A= (p.Glu447=) c.1499A= (p.Glu500=) | |
| 5 | g.113064099C>A | CA360626245 | MCC | c.1528G>T (p.Glu510Ter) c.2098G>T (p.Glu700Ter) c.1339G>T (p.Glu447Ter) c.1498G>T (p.Glu500Ter) | |
| 5 | g.113064099C>G | CA360626244 | MCC | c.1528G>C (p.Glu510Gln) c.2098G>C (p.Glu700Gln) c.1339G>C (p.Glu447Gln) c.1498G>C (p.Glu500Gln) | |
| 5 | g.113064099C>T | CA360626243 | MCC | c.1528G>A (p.Glu510Lys) c.2098G>A (p.Glu700Lys) c.1339G>A (p.Glu447Lys) c.1498G>A (p.Glu500Lys) | dbSNP |
| 5 | g.113064100A>C | CA445979366 | MCC | c.1527T>G (p.Ala509=) c.2097T>G (p.Ala699=) c.1338T>G (p.Ala446=) c.1497T>G (p.Ala499=) | |
| 5 | g.113064100A>G | CA445979367 | MCC | c.1527T>C (p.Ala509=) c.2097T>C (p.Ala699=) c.1338T>C (p.Ala446=) c.1497T>C (p.Ala499=) | |
| 5 | g.113064100A>T | CA445979368 | MCC | c.1527T>A (p.Ala509=) c.2097T>A (p.Ala699=) c.1338T>A (p.Ala446=) c.1497T>A (p.Ala499=) | |
| 5 | g.113064101G>A | CA3370028 | MCC | c.1526C>T (p.Ala509Val) c.2096C>T (p.Ala699Val) c.1337C>T (p.Ala446Val) c.1496C>T (p.Ala499Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064101G>C | CA360626246 | MCC | c.1526C>G (p.Ala509Gly) c.2096C>G (p.Ala699Gly) c.1337C>G (p.Ala446Gly) c.1496C>G (p.Ala499Gly) | |
| 5 | g.113064101G= | CA1573632544 | MCC | c.1526C= (p.Ala509=) c.2096C= (p.Ala699=) c.1337C= (p.Ala446=) c.1496C= (p.Ala499=) | |
| 5 | g.113064101G>T | CA360626247 | MCC | c.1526C>A (p.Ala509Asp) c.2096C>A (p.Ala699Asp) c.1337C>A (p.Ala446Asp) c.1496C>A (p.Ala499Asp) | |
| 5 | g.113064102C>A | CA360626248 | MCC | c.1525G>T (p.Ala509Ser) c.2095G>T (p.Ala699Ser) c.1336G>T (p.Ala446Ser) c.1495G>T (p.Ala499Ser) | |
| 5 | g.113064102C>G | CA360626249 | MCC | c.1525G>C (p.Ala509Pro) c.2095G>C (p.Ala699Pro) c.1336G>C (p.Ala446Pro) c.1495G>C (p.Ala499Pro) | gnomAD v4 |
| 5 | g.113064102C>T | CA360626250 | MCC | c.1525G>A (p.Ala509Thr) c.2095G>A (p.Ala699Thr) c.1336G>A (p.Ala446Thr) c.1495G>A (p.Ala499Thr) | gnomAD v4 |
| 5 | g.113064103T>A | CA445979372 | MCC | c.1524A>T (p.Thr508=) c.2094A>T (p.Thr698=) c.1335A>T (p.Thr445=) c.1494A>T (p.Thr498=) | |
| 5 | g.113064103T>C | CA445979374 | MCC | c.1524A>G (p.Thr508=) c.2094A>G (p.Thr698=) c.1335A>G (p.Thr445=) c.1494A>G (p.Thr498=) | dbSNP gnomAD v2 |
| 5 | g.113064103T>G | CA445979376 | MCC | c.1524A>C (p.Thr508=) c.2094A>C (p.Thr698=) c.1335A>C (p.Thr445=) c.1494A>C (p.Thr498=) | gnomAD v4 |
| 5 | g.113064103T= | CA1573632545 | MCC | c.1524A= (p.Thr508=) c.2094A= (p.Thr698=) c.1335A= (p.Thr445=) c.1494A= (p.Thr498=) | |
| 5 | g.113064104G>A | CA3370029 | MCC | c.1523C>T (p.Thr508Ile) c.2093C>T (p.Thr698Ile) c.1334C>T (p.Thr445Ile) c.1493C>T (p.Thr498Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064104G>C | CA360626251 | MCC | c.1523C>G (p.Thr508Arg) c.2093C>G (p.Thr698Arg) c.1334C>G (p.Thr445Arg) c.1493C>G (p.Thr498Arg) | |
| 5 | g.113064104G= | CA1573632546 | MCC | c.1523C= (p.Thr508=) c.2093C= (p.Thr698=) c.1334C= (p.Thr445=) c.1493C= (p.Thr498=) | |
| 5 | g.113064104G>T | CA360626252 | MCC | c.1523C>A (p.Thr508Lys) c.2093C>A (p.Thr698Lys) c.1334C>A (p.Thr445Lys) c.1493C>A (p.Thr498Lys) | |
| 5 | g.113064105T>A | CA360626253 | MCC | c.1522A>T (p.Thr508Ser) c.2092A>T (p.Thr698Ser) c.1333A>T (p.Thr445Ser) c.1492A>T (p.Thr498Ser) | |
| 5 | g.113064105T>C | CA360626254 | MCC | c.1522A>G (p.Thr508Ala) c.2092A>G (p.Thr698Ala) c.1333A>G (p.Thr445Ala) c.1492A>G (p.Thr498Ala) | |
| 5 | g.113064105T>G | CA360626255 | MCC | c.1522A>C (p.Thr508Pro) c.2092A>C (p.Thr698Pro) c.1333A>C (p.Thr445Pro) c.1492A>C (p.Thr498Pro) | |
| 5 | g.113064106C>A | CA360626256 | MCC | c.1521G>T (p.Lys507Asn) c.2091G>T (p.Lys697Asn) c.1332G>T (p.Lys444Asn) c.1491G>T (p.Lys497Asn) | COSMIC COSMIC |
| 5 | g.113064106C>G | CA360626257 | MCC | c.1521G>C (p.Lys507Asn) c.2091G>C (p.Lys697Asn) c.1332G>C (p.Lys444Asn) c.1491G>C (p.Lys497Asn) | |
| 5 | g.113064106C>T | CA445979380 | MCC | c.1521G>A (p.Lys507=) c.2091G>A (p.Lys697=) c.1332G>A (p.Lys444=) c.1491G>A (p.Lys497=) | |
| 5 | g.113064107T>A | CA360626259 | MCC | c.1520A>T (p.Lys507Met) c.2090A>T (p.Lys697Met) c.1331A>T (p.Lys444Met) c.1490A>T (p.Lys497Met) | |
| 5 | g.113064107T>C | CA360626260 | MCC | c.1520A>G (p.Lys507Arg) c.2090A>G (p.Lys697Arg) c.1331A>G (p.Lys444Arg) c.1490A>G (p.Lys497Arg) | gnomAD v4 |
| 5 | g.113064107T>G | CA360626258 | MCC | c.1520A>C (p.Lys507Thr) c.2090A>C (p.Lys697Thr) c.1331A>C (p.Lys444Thr) c.1490A>C (p.Lys497Thr) | |
| 5 | g.113064108T>A | CA360626261 | MCC | c.1519A>T (p.Lys507Ter) c.2089A>T (p.Lys697Ter) c.1330A>T (p.Lys444Ter) c.1489A>T (p.Lys497Ter) | |
| 5 | g.113064108T>C | CA360626262 | MCC | c.1519A>G (p.Lys507Glu) c.2089A>G (p.Lys697Glu) c.1330A>G (p.Lys444Glu) c.1489A>G (p.Lys497Glu) | gnomAD v4 |
| 5 | g.113064108T>G | CA360626263 | MCC | c.1519A>C (p.Lys507Gln) c.2089A>C (p.Lys697Gln) c.1330A>C (p.Lys444Gln) c.1489A>C (p.Lys497Gln) | |
| 5 | g.113064109C>A | CA124994744 | MCC | c.1518G>T (p.Arg506=) c.2088G>T (p.Arg696=) c.1329G>T (p.Arg443=) c.1488G>T (p.Arg496=) | dbSNP |
| 5 | g.113064109C= | CA1573632547 | MCC | c.1518G= (p.Arg506=) c.2088G= (p.Arg696=) c.1329G= (p.Arg443=) c.1488G= (p.Arg496=) | |
| 5 | g.113064109C>G | CA3370030 | MCC | c.1518G>C (p.Arg506=) c.2088G>C (p.Arg696=) c.1329G>C (p.Arg443=) c.1488G>C (p.Arg496=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064109C>T | CA445979385 | MCC | c.1518G>A (p.Arg506=) c.2088G>A (p.Arg696=) c.1329G>A (p.Arg443=) c.1488G>A (p.Arg496=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.113064110C>A | CA360626264 | MCC | c.1517G>T (p.Arg506Leu) c.2087G>T (p.Arg696Leu) c.1328G>T (p.Arg443Leu) c.1487G>T (p.Arg496Leu) | gnomAD v4 |
| 5 | g.113064110C= | CA1573632548 | MCC | c.1517G= (p.Arg506=) c.2087G= (p.Arg696=) c.1328G= (p.Arg443=) c.1487G= (p.Arg496=) | |
| 5 | g.113064110C>G | CA360626265 | MCC | c.1517G>C (p.Arg506Pro) c.2087G>C (p.Arg696Pro) c.1328G>C (p.Arg443Pro) c.1487G>C (p.Arg496Pro) | |
| 5 | g.113064110C>T | CA250643 | MCC | c.1517G>A (p.Arg506Gln) c.2087G>A (p.Arg696Gln) c.1328G>A (p.Arg443Gln) c.1487G>A (p.Arg496Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064111G>A | CA124994758 | MCC | c.1516C>T (p.Arg506Trp) c.2086C>T (p.Arg696Trp) c.1327C>T (p.Arg443Trp) c.1486C>T (p.Arg496Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064111G>C | CA360626266 | MCC | c.1516C>G (p.Arg506Gly) c.2086C>G (p.Arg696Gly) c.1327C>G (p.Arg443Gly) c.1486C>G (p.Arg496Gly) | dbSNP gnomAD v2 |
| 5 | g.113064111G= | CA1573632549 | MCC | c.1516C= (p.Arg506=) c.2086C= (p.Arg696=) c.1327C= (p.Arg443=) c.1486C= (p.Arg496=) | |
| 5 | g.113064111G>T | CA445979386 | MCC | c.1516C>A (p.Arg506=) c.2086C>A (p.Arg696=) c.1327C>A (p.Arg443=) c.1486C>A (p.Arg496=) | |
| 5 | g.113064112G>A | CA445979387 | MCC | c.1515C>T (p.Cys505=) c.2085C>T (p.Cys695=) c.1326C>T (p.Cys442=) c.1485C>T (p.Cys495=) | gnomAD v4 |
| 5 | g.113064112G>C | CA360626267 | MCC | c.1515C>G (p.Cys505Trp) c.2085C>G (p.Cys695Trp) c.1326C>G (p.Cys442Trp) c.1485C>G (p.Cys495Trp) | |
| 5 | g.113064112G>T | CA360626268 | MCC | c.1515C>A (p.Cys505Ter) c.2085C>A (p.Cys695Ter) c.1326C>A (p.Cys442Ter) c.1485C>A (p.Cys495Ter) | |
| 5 | g.113064113C>A | CA360626269 | MCC | c.1514G>T (p.Cys505Phe) c.2084G>T (p.Cys695Phe) c.1325G>T (p.Cys442Phe) c.1484G>T (p.Cys495Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.113064113C= | CA1573632550 | MCC | c.1514G= (p.Cys505=) c.2084G= (p.Cys695=) c.1325G= (p.Cys442=) c.1484G= (p.Cys495=) | |
| 5 | g.113064113C>G | CA360626270 | MCC | c.1514G>C (p.Cys505Ser) c.2084G>C (p.Cys695Ser) c.1325G>C (p.Cys442Ser) c.1484G>C (p.Cys495Ser) | |
| 5 | g.113064113C>T | CA360626271 | MCC | c.1514G>A (p.Cys505Tyr) c.2084G>A (p.Cys695Tyr) c.1325G>A (p.Cys442Tyr) c.1484G>A (p.Cys495Tyr) | gnomAD v4 |
| 5 | g.113064114A>C | CA360626272 | MCC | c.1513T>G (p.Cys505Gly) c.2083T>G (p.Cys695Gly) c.1324T>G (p.Cys442Gly) c.1483T>G (p.Cys495Gly) | |
| 5 | g.113064114A>G | CA360626274 | MCC | c.1513T>C (p.Cys505Arg) c.2083T>C (p.Cys695Arg) c.1324T>C (p.Cys442Arg) c.1483T>C (p.Cys495Arg) | |
| 5 | g.113064114A>T | CA360626273 | MCC | c.1513T>A (p.Cys505Ser) c.2083T>A (p.Cys695Ser) c.1324T>A (p.Cys442Ser) c.1483T>A (p.Cys495Ser) | |
| 5 | g.113064115G>A | CA445979388 | MCC | c.1512C>T (p.Asp504=) c.2082C>T (p.Asp694=) c.1323C>T (p.Asp441=) c.1482C>T (p.Asp494=) | gnomAD v4 |
| 5 | g.113064115G>C | CA360626275 | MCC | c.1512C>G (p.Asp504Glu) c.2082C>G (p.Asp694Glu) c.1323C>G (p.Asp441Glu) c.1482C>G (p.Asp494Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064115G= | CA1573632551 | MCC | c.1512C= (p.Asp504=) c.2082C= (p.Asp694=) c.1323C= (p.Asp441=) c.1482C= (p.Asp494=) | |
| 5 | g.113064115G>T | CA360626276 | MCC | c.1512C>A (p.Asp504Glu) c.2082C>A (p.Asp694Glu) c.1323C>A (p.Asp441Glu) c.1482C>A (p.Asp494Glu) | |
| 5 | g.113064116T>A | CA360626277 | MCC | c.1511A>T (p.Asp504Val) c.2081A>T (p.Asp694Val) c.1322A>T (p.Asp441Val) c.1481A>T (p.Asp494Val) | |
| 5 | g.113064116T>C | CA360626278 | MCC | c.1511A>G (p.Asp504Gly) c.2081A>G (p.Asp694Gly) c.1322A>G (p.Asp441Gly) c.1481A>G (p.Asp494Gly) | dbSNP gnomAD v4 |
| 5 | g.113064116T>G | CA360626279 | MCC | c.1511A>C (p.Asp504Ala) c.2081A>C (p.Asp694Ala) c.1322A>C (p.Asp441Ala) c.1481A>C (p.Asp494Ala) | |
| 5 | g.113064116T= | CA1573632552 | MCC | c.1511A= (p.Asp504=) c.2081A= (p.Asp694=) c.1322A= (p.Asp441=) c.1481A= (p.Asp494=) | |
| 5 | g.113064117C>A | CA360626280 | MCC | c.1510G>T (p.Asp504Tyr) c.2080G>T (p.Asp694Tyr) c.1321G>T (p.Asp441Tyr) c.1480G>T (p.Asp494Tyr) | |
| 5 | g.113064117C>G | CA360626281 | MCC | c.1510G>C (p.Asp504His) c.2080G>C (p.Asp694His) c.1321G>C (p.Asp441His) c.1480G>C (p.Asp494His) | |
| 5 | g.113064117C>T | CA360626282 | MCC | c.1510G>A (p.Asp504Asn) c.2080G>A (p.Asp694Asn) c.1321G>A (p.Asp441Asn) c.1480G>A (p.Asp494Asn) | |
| 5 | g.113064118A>C | CA360626283 | MCC | c.1509T>G (p.His503Gln) c.2079T>G (p.His693Gln) c.1320T>G (p.His440Gln) c.1479T>G (p.His493Gln) | |
| 5 | g.113064118A>G | CA445979389 | MCC | c.1509T>C (p.His503=) c.2079T>C (p.His693=) c.1320T>C (p.His440=) c.1479T>C (p.His493=) | |
| 5 | g.113064118A>T | CA360626284 | MCC | c.1509T>A (p.His503Gln) c.2079T>A (p.His693Gln) c.1320T>A (p.His440Gln) c.1479T>A (p.His493Gln) | |
| 5 | g.113064119T>A | CA360626287 | MCC | c.1508A>T (p.His503Leu) c.2078A>T (p.His693Leu) c.1319A>T (p.His440Leu) c.1478A>T (p.His493Leu) | gnomAD v4 |
| 5 | g.113064119T>C | CA360626285 | MCC | c.1508A>G (p.His503Arg) c.2078A>G (p.His693Arg) c.1319A>G (p.His440Arg) c.1478A>G (p.His493Arg) | gnomAD v4 |
| 5 | g.113064119T>G | CA360626286 | MCC | c.1508A>C (p.His503Pro) c.2078A>C (p.His693Pro) c.1319A>C (p.His440Pro) c.1478A>C (p.His493Pro) | gnomAD v4 |
| 5 | g.113064120G>A | CA3370031 | MCC | c.1507C>T (p.His503Tyr) c.2077C>T (p.His693Tyr) c.1318C>T (p.His440Tyr) c.1477C>T (p.His493Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.113064120G>C | CA360626289 | MCC | c.1507C>G (p.His503Asp) c.2077C>G (p.His693Asp) c.1318C>G (p.His440Asp) c.1477C>G (p.His493Asp) | |
| 5 | g.113064120G= | CA1573632553 | MCC | c.1507C= (p.His503=) c.2077C= (p.His693=) c.1318C= (p.His440=) c.1477C= (p.His493=) | |
| 5 | g.113064120G>T | CA360626288 | MCC | c.1507C>A (p.His503Asn) c.2077C>A (p.His693Asn) c.1318C>A (p.His440Asn) c.1477C>A (p.His493Asn) | |
| 5 | g.113064121A>C | CA445979390 | MCC | c.1506T>G (p.Ala502=) c.2076T>G (p.Ala692=) c.1317T>G (p.Ala439=) c.1476T>G (p.Ala492=) | |
| 5 | g.113064121A>G | CA445979392 | MCC | c.1506T>C (p.Ala502=) c.2076T>C (p.Ala692=) c.1317T>C (p.Ala439=) c.1476T>C (p.Ala492=) | |
| 5 | g.113064121A>T | CA445979393 | MCC | c.1506T>A (p.Ala502=) c.2076T>A (p.Ala692=) c.1317T>A (p.Ala439=) c.1476T>A (p.Ala492=) | |
| 5 | g.113064122G>A | CA3370032 | MCC | c.1505C>T (p.Ala502Val) c.2075C>T (p.Ala692Val) c.1316C>T (p.Ala439Val) c.1475C>T (p.Ala492Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.113064122G>C | CA360626290 | MCC | c.1505C>G (p.Ala502Gly) c.2075C>G (p.Ala692Gly) c.1316C>G (p.Ala439Gly) c.1475C>G (p.Ala492Gly) | dbSNP |
| 5 | g.113064122G= | CA1573632554 | MCC | c.1505C= (p.Ala502=) c.2075C= (p.Ala692=) c.1316C= (p.Ala439=) c.1475C= (p.Ala492=) | |
| 5 | g.113064122G>T | CA360626291 | MCC | c.1505C>A (p.Ala502Asp) c.2075C>A (p.Ala692Asp) c.1316C>A (p.Ala439Asp) c.1475C>A (p.Ala492Asp) | |
| 5 | g.113064123C>A | CA360626292 | MCC | c.1504G>T (p.Ala502Ser) c.2074G>T (p.Ala692Ser) c.1315G>T (p.Ala439Ser) c.1474G>T (p.Ala492Ser) | |
| 5 | g.113064123C>G | CA360626293 | MCC | c.1504G>C (p.Ala502Pro) c.2074G>C (p.Ala692Pro) c.1315G>C (p.Ala439Pro) c.1474G>C (p.Ala492Pro) | |
| 5 | g.113064123C>T | CA360626294 | MCC | c.1504G>A (p.Ala502Thr) c.2074G>A (p.Ala692Thr) c.1315G>A (p.Ala439Thr) c.1474G>A (p.Ala492Thr) |