| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66849984A>C | CA381491809 | PC | c.2851T>G (p.Tyr951Asp) n.371T>G c.*860T>G (n.*860T>G) c.*1327T>G (n.*1327T>G) c.211T>G (p.Tyr71Asp) c.1330T>G (p.Tyr444Asp) c.1555T>G (p.Tyr519Asp) c.1486T>G (p.Tyr496Asp) | |
| 11 | g.66849984A>G | CA381491810 | PC | c.2851T>C (p.Tyr951His) n.371T>C c.*860T>C (n.*860T>C) c.*1327T>C (n.*1327T>C) c.211T>C (p.Tyr71His) c.1330T>C (p.Tyr444His) c.1555T>C (p.Tyr519His) c.1486T>C (p.Tyr496His) | |
| 11 | g.66849984A>T | CA381491811 | PC | c.2851T>A (p.Tyr951Asn) n.371T>A c.*860T>A (n.*860T>A) c.*1327T>A (n.*1327T>A) c.211T>A (p.Tyr71Asn) c.1330T>A (p.Tyr444Asn) c.1555T>A (p.Tyr519Asn) c.1486T>A (p.Tyr496Asn) | |
| 11 | g.66849985G>A | CA475500615 | PC | c.2850C>T (p.Gly950=) n.370C>T c.*859C>T (n.*859C>T) c.*1326C>T (n.*1326C>T) c.210C>T (p.Gly70=) c.1329C>T (p.Gly443=) c.1554C>T (p.Gly518=) c.1485C>T (p.Gly495=) | |
| 11 | g.66849985G>C | CA6130962 | PC | c.2850C>G (p.Gly950=) n.370C>G c.*859C>G (n.*859C>G) c.*1326C>G (n.*1326C>G) c.210C>G (p.Gly70=) c.1329C>G (p.Gly443=) c.1554C>G (p.Gly518=) c.1485C>G (p.Gly495=) | dbSNP ExAC gnomAD v2 |
| 11 | g.66849985G= | CA1979909978 | PC | c.2850C= (p.Gly950=) n.370C= c.*859C= (n.*859C=) c.*1326C= (n.*1326C=) c.210C= (p.Gly70=) c.1329C= (p.Gly443=) c.1554C= (p.Gly518=) c.1485C= (p.Gly495=) | |
| 11 | g.66849985G>T | CA475500616 | PC | c.2850C>A (p.Gly950=) n.370C>A c.*859C>A (n.*859C>A) c.*1326C>A (n.*1326C>A) c.210C>A (p.Gly70=) c.1329C>A (p.Gly443=) c.1554C>A (p.Gly518=) c.1485C>A (p.Gly495=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66849986C>A | CA381491812 | PC | c.2849G>T (p.Gly950Val) n.369G>T c.*858G>T (n.*858G>T) c.*1325G>T (n.*1325G>T) c.209G>T (p.Gly70Val) c.1328G>T (p.Gly443Val) c.1553G>T (p.Gly518Val) c.1484G>T (p.Gly495Val) | |
| 11 | g.66849986C>G | CA381491813 | PC | c.2849G>C (p.Gly950Ala) n.369G>C c.*858G>C (n.*858G>C) c.*1325G>C (n.*1325G>C) c.209G>C (p.Gly70Ala) c.1328G>C (p.Gly443Ala) c.1553G>C (p.Gly518Ala) c.1484G>C (p.Gly495Ala) | |
| 11 | g.66849986C>T | CA381491814 | PC | c.2849G>A (p.Gly950Asp) n.369G>A c.*858G>A (n.*858G>A) c.*1325G>A (n.*1325G>A) c.209G>A (p.Gly70Asp) c.1328G>A (p.Gly443Asp) c.1553G>A (p.Gly518Asp) c.1484G>A (p.Gly495Asp) | |
| 11 | g.66849987C>A | CA381491815 | PC | c.2848G>T (p.Gly950Cys) n.368G>T c.*857G>T (n.*857G>T) c.*1324G>T (n.*1324G>T) c.208G>T (p.Gly70Cys) c.1327G>T (p.Gly443Cys) c.1552G>T (p.Gly518Cys) c.1483G>T (p.Gly495Cys) | |
| 11 | g.66849987C>G | CA381491816 | PC | c.2848G>C (p.Gly950Arg) n.368G>C c.*857G>C (n.*857G>C) c.*1324G>C (n.*1324G>C) c.208G>C (p.Gly70Arg) c.1327G>C (p.Gly443Arg) c.1552G>C (p.Gly518Arg) c.1483G>C (p.Gly495Arg) | |
| 11 | g.66849987C>T | CA381491817 | PC | c.2848G>A (p.Gly950Ser) n.368G>A c.*857G>A (n.*857G>A) c.*1324G>A (n.*1324G>A) c.208G>A (p.Gly70Ser) c.1327G>A (p.Gly443Ser) c.1552G>A (p.Gly518Ser) c.1483G>A (p.Gly495Ser) | |
| 11 | g.66849988C>A | CA381491818 | PC | c.2847G>T (p.Gln949His) n.367G>T c.*856G>T (n.*856G>T) c.*1323G>T (n.*1323G>T) c.207G>T (p.Gln69His) c.1326G>T (p.Gln442His) c.1551G>T (p.Gln517His) c.1482G>T (p.Gln494His) | |
| 11 | g.66849988C>G | CA381491819 | PC | c.2847G>C (p.Gln949His) n.367G>C c.*856G>C (n.*856G>C) c.*1323G>C (n.*1323G>C) c.207G>C (p.Gln69His) c.1326G>C (p.Gln442His) c.1551G>C (p.Gln517His) c.1482G>C (p.Gln494His) | |
| 11 | g.66849988C>T | CA475500617 | PC | c.2847G>A (p.Gln949=) n.367G>A c.*856G>A (n.*856G>A) c.*1323G>A (n.*1323G>A) c.207G>A (p.Gln69=) c.1326G>A (p.Gln442=) c.1551G>A (p.Gln517=) c.1482G>A (p.Gln494=) | |
| 11 | g.66849989T>A | CA381491822 | PC | c.2846A>T (p.Gln949Leu) n.366A>T c.*855A>T (n.*855A>T) c.*1322A>T (n.*1322A>T) c.206A>T (p.Gln69Leu) c.1325A>T (p.Gln442Leu) c.1550A>T (p.Gln517Leu) c.1481A>T (p.Gln494Leu) | |
| 11 | g.66849989T>C | CA381491821 | PC | c.2846A>G (p.Gln949Arg) n.366A>G c.*855A>G (n.*855A>G) c.*1322A>G (n.*1322A>G) c.206A>G (p.Gln69Arg) c.1325A>G (p.Gln442Arg) c.1550A>G (p.Gln517Arg) c.1481A>G (p.Gln494Arg) | dbSNP gnomAD v4 |
| 11 | g.66849989T>G | CA381491820 | PC | c.2846A>C (p.Gln949Pro) n.366A>C c.*855A>C (n.*855A>C) c.*1322A>C (n.*1322A>C) c.206A>C (p.Gln69Pro) c.1325A>C (p.Gln442Pro) c.1550A>C (p.Gln517Pro) c.1481A>C (p.Gln494Pro) | dbSNP gnomAD v4 |
| 11 | g.66849989T= | CA1979909981 | PC | c.2846A= (p.Gln949=) n.366A= c.*855A= (n.*855A=) c.*1322A= (n.*1322A=) c.206A= (p.Gln69=) c.1325A= (p.Gln442=) c.1550A= (p.Gln517=) c.1481A= (p.Gln494=) | |
| 11 | g.66849990G>A | CA381491823 | PC | c.2845C>T (p.Gln949Ter) n.365C>T c.*854C>T (n.*854C>T) c.*1321C>T (n.*1321C>T) c.205C>T (p.Gln69Ter) c.1324C>T (p.Gln442Ter) c.1549C>T (p.Gln517Ter) c.1480C>T (p.Gln494Ter) | |
| 11 | g.66849990G>C | CA381491825 | PC | c.2845C>G (p.Gln949Glu) n.365C>G c.*854C>G (n.*854C>G) c.*1321C>G (n.*1321C>G) c.205C>G (p.Gln69Glu) c.1324C>G (p.Gln442Glu) c.1549C>G (p.Gln517Glu) c.1480C>G (p.Gln494Glu) | |
| 11 | g.66849990G>T | CA381491824 | PC | c.2845C>A (p.Gln949Lys) n.365C>A c.*854C>A (n.*854C>A) c.*1321C>A (n.*1321C>A) c.205C>A (p.Gln69Lys) c.1324C>A (p.Gln442Lys) c.1549C>A (p.Gln517Lys) c.1480C>A (p.Gln494Lys) | |
| 11 | g.66849991C>A | CA475500618 | PC | c.2844G>T (p.Leu948=) n.364G>T c.*853G>T (n.*853G>T) c.*1320G>T (n.*1320G>T) c.204G>T (p.Leu68=) c.1323G>T (p.Leu441=) c.1548G>T (p.Leu516=) c.1479G>T (p.Leu493=) | |
| 11 | g.66849991C= | CA1979909985 | PC | c.2844G= (p.Leu948=) n.364G= c.*853G= (n.*853G=) c.*1320G= (n.*1320G=) c.204G= (p.Leu68=) c.1323G= (p.Leu441=) c.1548G= (p.Leu516=) c.1479G= (p.Leu493=) | |
| 11 | g.66849991C>G | CA475500619 | PC | c.2844G>C (p.Leu948=) n.364G>C c.*853G>C (n.*853G>C) c.*1320G>C (n.*1320G>C) c.204G>C (p.Leu68=) c.1323G>C (p.Leu441=) c.1548G>C (p.Leu516=) c.1479G>C (p.Leu493=) | |
| 11 | g.66849991C>T | CA6130963 | PC | c.2844G>A (p.Leu948=) n.364G>A c.*853G>A (n.*853G>A) c.*1320G>A (n.*1320G>A) c.204G>A (p.Leu68=) c.1323G>A (p.Leu441=) c.1548G>A (p.Leu516=) c.1479G>A (p.Leu493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66849992A>C | CA381491826 | PC | c.2843T>G (p.Leu948Arg) n.363T>G c.*852T>G (n.*852T>G) c.*1319T>G (n.*1319T>G) c.203T>G (p.Leu68Arg) c.1322T>G (p.Leu441Arg) c.1547T>G (p.Leu516Arg) c.1478T>G (p.Leu493Arg) | |
| 11 | g.66849992A>G | CA381491827 | PC | c.2843T>C (p.Leu948Pro) n.363T>C c.*852T>C (n.*852T>C) c.*1319T>C (n.*1319T>C) c.203T>C (p.Leu68Pro) c.1322T>C (p.Leu441Pro) c.1547T>C (p.Leu516Pro) c.1478T>C (p.Leu493Pro) | gnomAD v4 |
| 11 | g.66849992A>T | CA381491828 | PC | c.2843T>A (p.Leu948Gln) n.363T>A c.*852T>A (n.*852T>A) c.*1319T>A (n.*1319T>A) c.203T>A (p.Leu68Gln) c.1322T>A (p.Leu441Gln) c.1547T>A (p.Leu516Gln) c.1478T>A (p.Leu493Gln) | |
| 11 | g.66849993G>A | CA475500620 | PC | c.2842C>T (p.Leu948=) n.362C>T c.*851C>T (n.*851C>T) c.*1318C>T (n.*1318C>T) c.202C>T (p.Leu68=) c.1321C>T (p.Leu441=) c.1546C>T (p.Leu516=) c.1477C>T (p.Leu493=) | dbSNP |
| 11 | g.66849993G>C | CA381491829 | PC | c.2842C>G (p.Leu948Val) n.362C>G c.*851C>G (n.*851C>G) c.*1318C>G (n.*1318C>G) c.202C>G (p.Leu68Val) c.1321C>G (p.Leu441Val) c.1546C>G (p.Leu516Val) c.1477C>G (p.Leu493Val) | |
| 11 | g.66849993G= | CA1979909990 | PC | c.2842C= (p.Leu948=) n.362C= c.*851C= (n.*851C=) c.*1318C= (n.*1318C=) c.202C= (p.Leu68=) c.1321C= (p.Leu441=) c.1546C= (p.Leu516=) c.1477C= (p.Leu493=) | |
| 11 | g.66849993G>T | CA381491830 | PC | c.2842C>A (p.Leu948Met) n.362C>A c.*851C>A (n.*851C>A) c.*1318C>A (n.*1318C>A) c.202C>A (p.Leu68Met) c.1321C>A (p.Leu441Met) c.1546C>A (p.Leu516Met) c.1477C>A (p.Leu493Met) | |
| 11 | g.66849994G>A | CA475500621 | PC | c.2841C>T (p.Phe947=) n.361C>T c.*850C>T (n.*850C>T) c.*1317C>T (n.*1317C>T) c.201C>T (p.Phe67=) c.1320C>T (p.Phe440=) c.1545C>T (p.Phe515=) c.1476C>T (p.Phe492=) | |
| 11 | g.66849994G>C | CA381491831 | PC | c.2841C>G (p.Phe947Leu) n.361C>G c.*850C>G (n.*850C>G) c.*1317C>G (n.*1317C>G) c.201C>G (p.Phe67Leu) c.1320C>G (p.Phe440Leu) c.1545C>G (p.Phe515Leu) c.1476C>G (p.Phe492Leu) | |
| 11 | g.66849994G>T | CA381491832 | PC | c.2841C>A (p.Phe947Leu) n.361C>A c.*850C>A (n.*850C>A) c.*1317C>A (n.*1317C>A) c.201C>A (p.Phe67Leu) c.1320C>A (p.Phe440Leu) c.1545C>A (p.Phe515Leu) c.1476C>A (p.Phe492Leu) | gnomAD v4 |
| 11 | g.66849995A>C | CA381491833 | PC | c.2840T>G (p.Phe947Cys) n.360T>G c.*849T>G (n.*849T>G) c.*1316T>G (n.*1316T>G) c.200T>G (p.Phe67Cys) c.1319T>G (p.Phe440Cys) c.1544T>G (p.Phe515Cys) c.1475T>G (p.Phe492Cys) | |
| 11 | g.66849995A>G | CA381491834 | PC | c.2840T>C (p.Phe947Ser) n.360T>C c.*849T>C (n.*849T>C) c.*1316T>C (n.*1316T>C) c.200T>C (p.Phe67Ser) c.1319T>C (p.Phe440Ser) c.1544T>C (p.Phe515Ser) c.1475T>C (p.Phe492Ser) | |
| 11 | g.66849995A>T | CA381491835 | PC | c.2840T>A (p.Phe947Tyr) n.360T>A c.*849T>A (n.*849T>A) c.*1316T>A (n.*1316T>A) c.200T>A (p.Phe67Tyr) c.1319T>A (p.Phe440Tyr) c.1544T>A (p.Phe515Tyr) c.1475T>A (p.Phe492Tyr) | |
| 11 | g.66849996A>C | CA381491838 | PC | c.2839T>G (p.Phe947Val) n.359T>G c.*848T>G (n.*848T>G) c.*1315T>G (n.*1315T>G) c.199T>G (p.Phe67Val) c.1318T>G (p.Phe440Val) c.1543T>G (p.Phe515Val) c.1474T>G (p.Phe492Val) | |
| 11 | g.66849996A>G | CA381491836 | PC | c.2839T>C (p.Phe947Leu) n.359T>C c.*848T>C (n.*848T>C) c.*1315T>C (n.*1315T>C) c.199T>C (p.Phe67Leu) c.1318T>C (p.Phe440Leu) c.1543T>C (p.Phe515Leu) c.1474T>C (p.Phe492Leu) | |
| 11 | g.66849996A>T | CA381491837 | PC | c.2839T>A (p.Phe947Ile) n.359T>A c.*848T>A (n.*848T>A) c.*1315T>A (n.*1315T>A) c.199T>A (p.Phe67Ile) c.1318T>A (p.Phe440Ile) c.1543T>A (p.Phe515Ile) c.1474T>A (p.Phe492Ile) | |
| 11 | g.66849997C>A | CA381491839 | PC | c.2838G>T (p.Glu946Asp) n.358G>T c.*847G>T (n.*847G>T) c.*1314G>T (n.*1314G>T) c.198G>T (p.Glu66Asp) c.1317G>T (p.Glu439Asp) c.1542G>T (p.Glu514Asp) c.1473G>T (p.Glu491Asp) | |
| 11 | g.66849997C= | CA1979909994 | PC | c.2838G= (p.Glu946=) n.358G= c.*847G= (n.*847G=) c.*1314G= (n.*1314G=) c.198G= (p.Glu66=) c.1317G= (p.Glu439=) c.1542G= (p.Glu514=) c.1473G= (p.Glu491=) | |
| 11 | g.66849997C>G | CA381491840 | PC | c.2838G>C (p.Glu946Asp) n.358G>C c.*847G>C (n.*847G>C) c.*1314G>C (n.*1314G>C) c.198G>C (p.Glu66Asp) c.1317G>C (p.Glu439Asp) c.1542G>C (p.Glu514Asp) c.1473G>C (p.Glu491Asp) | |
| 11 | g.66849997C>T | CA475500622 | PC | c.2838G>A (p.Glu946=) n.358G>A c.*847G>A (n.*847G>A) c.*1314G>A (n.*1314G>A) c.198G>A (p.Glu66=) c.1317G>A (p.Glu439=) c.1542G>A (p.Glu514=) c.1473G>A (p.Glu491=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66849998T>A | CA381491841 | PC | c.2837A>T (p.Glu946Val) n.357A>T c.*846A>T (n.*846A>T) c.*1313A>T (n.*1313A>T) c.197A>T (p.Glu66Val) c.1316A>T (p.Glu439Val) c.1541A>T (p.Glu514Val) c.1472A>T (p.Glu491Val) | |
| 11 | g.66849998T>C | CA381491842 | PC | c.2837A>G (p.Glu946Gly) n.357A>G c.*846A>G (n.*846A>G) c.*1313A>G (n.*1313A>G) c.197A>G (p.Glu66Gly) c.1316A>G (p.Glu439Gly) c.1541A>G (p.Glu514Gly) c.1472A>G (p.Glu491Gly) | |
| 11 | g.66849998T>G | CA381491843 | PC | c.2837A>C (p.Glu946Ala) n.357A>C c.*846A>C (n.*846A>C) c.*1313A>C (n.*1313A>C) c.197A>C (p.Glu66Ala) c.1316A>C (p.Glu439Ala) c.1541A>C (p.Glu514Ala) c.1472A>C (p.Glu491Ala) | |
| 11 | g.66849999C>A | CA381491844 | PC | c.2836G>T (p.Glu946Ter) n.356G>T c.*845G>T (n.*845G>T) c.*1312G>T (n.*1312G>T) c.196G>T (p.Glu66Ter) c.1315G>T (p.Glu439Ter) c.1540G>T (p.Glu514Ter) c.1471G>T (p.Glu491Ter) | |
| 11 | g.66849999C>G | CA381491845 | PC | c.2836G>C (p.Glu946Gln) n.356G>C c.*845G>C (n.*845G>C) c.*1312G>C (n.*1312G>C) c.196G>C (p.Glu66Gln) c.1315G>C (p.Glu439Gln) c.1540G>C (p.Glu514Gln) c.1471G>C (p.Glu491Gln) | gnomAD v4 |
| 11 | g.66849999C>T | CA381491846 | PC | c.2836G>A (p.Glu946Lys) n.356G>A c.*845G>A (n.*845G>A) c.*1312G>A (n.*1312G>A) c.196G>A (p.Glu66Lys) c.1315G>A (p.Glu439Lys) c.1540G>A (p.Glu514Lys) c.1471G>A (p.Glu491Lys) | |
| 11 | g.66850000C>A | CA475500623 | PC | c.2835G>T (p.Val945=) n.355G>T c.*844G>T (n.*844G>T) c.*1311G>T (n.*1311G>T) c.195G>T (p.Val65=) c.1314G>T (p.Val438=) c.1539G>T (p.Val513=) c.1470G>T (p.Val490=) | |
| 11 | g.66850000C>G | CA475500624 | PC | c.2835G>C (p.Val945=) n.355G>C c.*844G>C (n.*844G>C) c.*1311G>C (n.*1311G>C) c.195G>C (p.Val65=) c.1314G>C (p.Val438=) c.1539G>C (p.Val513=) c.1470G>C (p.Val490=) | |
| 11 | g.66850000C>T | CA475500625 | PC | c.2835G>A (p.Val945=) n.355G>A c.*844G>A (n.*844G>A) c.*1311G>A (n.*1311G>A) c.195G>A (p.Val65=) c.1314G>A (p.Val438=) c.1539G>A (p.Val513=) c.1470G>A (p.Val490=) | |
| 11 | g.66850001A>C | CA381491847 | PC | c.2834T>G (p.Val945Gly) n.354T>G c.*843T>G (n.*843T>G) c.*1310T>G (n.*1310T>G) c.194T>G (p.Val65Gly) c.1313T>G (p.Val438Gly) c.1538T>G (p.Val513Gly) c.1469T>G (p.Val490Gly) | |
| 11 | g.66850001A>G | CA381491848 | PC | c.2834T>C (p.Val945Ala) n.354T>C c.*843T>C (n.*843T>C) c.*1310T>C (n.*1310T>C) c.194T>C (p.Val65Ala) c.1313T>C (p.Val438Ala) c.1538T>C (p.Val513Ala) c.1469T>C (p.Val490Ala) | |
| 11 | g.66850001A>T | CA381491849 | PC | c.2834T>A (p.Val945Glu) n.354T>A c.*843T>A (n.*843T>A) c.*1310T>A (n.*1310T>A) c.194T>A (p.Val65Glu) c.1313T>A (p.Val438Glu) c.1538T>A (p.Val513Glu) c.1469T>A (p.Val490Glu) | |
| 11 | g.66850002C>A | CA381491851 | PC | c.2833G>T (p.Val945Leu) n.353G>T c.*842G>T (n.*842G>T) c.*1309G>T (n.*1309G>T) c.193G>T (p.Val65Leu) c.1312G>T (p.Val438Leu) c.1537G>T (p.Val513Leu) c.1468G>T (p.Val490Leu) | |
| 11 | g.66850002C>G | CA381491853 | PC | c.2833G>C (p.Val945Leu) n.353G>C c.*842G>C (n.*842G>C) c.*1309G>C (n.*1309G>C) c.193G>C (p.Val65Leu) c.1312G>C (p.Val438Leu) c.1537G>C (p.Val513Leu) c.1468G>C (p.Val490Leu) | |
| 11 | g.66850002C>T | CA381491850 | PC | c.2833G>A (p.Val945Met) n.353G>A c.*842G>A (n.*842G>A) c.*1309G>A (n.*1309G>A) c.193G>A (p.Val65Met) c.1312G>A (p.Val438Met) c.1537G>A (p.Val513Met) c.1468G>A (p.Val490Met) | |
| 11 | g.66850003C>A | CA475500626 | PC | c.2832G>T (p.Val944=) n.352G>T c.*841G>T (n.*841G>T) c.*1308G>T (n.*1308G>T) c.192G>T (p.Val64=) c.1311G>T (p.Val437=) c.1536G>T (p.Val512=) c.1467G>T (p.Val489=) | |
| 11 | g.66850003C>G | CA475500627 | PC | c.2832G>C (p.Val944=) n.352G>C c.*841G>C (n.*841G>C) c.*1308G>C (n.*1308G>C) c.192G>C (p.Val64=) c.1311G>C (p.Val437=) c.1536G>C (p.Val512=) c.1467G>C (p.Val489=) | |
| 11 | g.66850003C>T | CA475500628 | PC | c.2832G>A (p.Val944=) n.352G>A c.*841G>A (n.*841G>A) c.*1308G>A (n.*1308G>A) c.192G>A (p.Val64=) c.1311G>A (p.Val437=) c.1536G>A (p.Val512=) c.1467G>A (p.Val489=) | ClinVar |
| 11 | g.66850004A>C | CA381491855 | PC | c.2831T>G (p.Val944Gly) n.351T>G c.*840T>G (n.*840T>G) c.*1307T>G (n.*1307T>G) c.191T>G (p.Val64Gly) c.1310T>G (p.Val437Gly) c.1535T>G (p.Val512Gly) c.1466T>G (p.Val489Gly) | |
| 11 | g.66850004A>G | CA381491856 | PC | c.2831T>C (p.Val944Ala) n.351T>C c.*840T>C (n.*840T>C) c.*1307T>C (n.*1307T>C) c.191T>C (p.Val64Ala) c.1310T>C (p.Val437Ala) c.1535T>C (p.Val512Ala) c.1466T>C (p.Val489Ala) | |
| 11 | g.66850004A>T | CA381491858 | PC | c.2831T>A (p.Val944Glu) n.351T>A c.*840T>A (n.*840T>A) c.*1307T>A (n.*1307T>A) c.191T>A (p.Val64Glu) c.1310T>A (p.Val437Glu) c.1535T>A (p.Val512Glu) c.1466T>A (p.Val489Glu) | |
| 11 | g.66850005C>A | CA381491859 | PC | c.2830G>T (p.Val944Leu) n.350G>T c.*839G>T (n.*839G>T) c.*1306G>T (n.*1306G>T) c.190G>T (p.Val64Leu) c.1309G>T (p.Val437Leu) c.1534G>T (p.Val512Leu) c.1465G>T (p.Val489Leu) | dbSNP |
| 11 | g.66850005C= | CA1979910021 | PC | c.2830G= (p.Val944=) n.350G= c.*839G= (n.*839G=) c.*1306G= (n.*1306G=) c.190G= (p.Val64=) c.1309G= (p.Val437=) c.1534G= (p.Val512=) c.1465G= (p.Val489=) | |
| 11 | g.66850005C>G | CA381491861 | PC | c.2830G>C (p.Val944Leu) n.350G>C c.*839G>C (n.*839G>C) c.*1306G>C (n.*1306G>C) c.190G>C (p.Val64Leu) c.1309G>C (p.Val437Leu) c.1534G>C (p.Val512Leu) c.1465G>C (p.Val489Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850005C>T | CA6130964 | PC | c.2830G>A (p.Val944Met) n.350G>A c.*839G>A (n.*839G>A) c.*1306G>A (n.*1306G>A) c.190G>A (p.Val64Met) c.1309G>A (p.Val437Met) c.1534G>A (p.Val512Met) c.1465G>A (p.Val489Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850006G>A | CA6130965 | PC | c.2829C>T (p.Ser943=) n.349C>T c.*838C>T (n.*838C>T) c.*1305C>T (n.*1305C>T) c.189C>T (p.Ser63=) c.1308C>T (p.Ser436=) c.1533C>T (p.Ser511=) c.1464C>T (p.Ser488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850006G>C | CA475500630 | PC | c.2829C>G (p.Ser943=) n.349C>G c.*838C>G (n.*838C>G) c.*1305C>G (n.*1305C>G) c.189C>G (p.Ser63=) c.1308C>G (p.Ser436=) c.1533C>G (p.Ser511=) c.1464C>G (p.Ser488=) | |
| 11 | g.66850006G= | CA1979910034 | PC | c.2829C= (p.Ser943=) n.349C= c.*838C= (n.*838C=) c.*1305C= (n.*1305C=) c.189C= (p.Ser63=) c.1308C= (p.Ser436=) c.1533C= (p.Ser511=) c.1464C= (p.Ser488=) | |
| 11 | g.66850006G>T | CA475500629 | PC | c.2829C>A (p.Ser943=) n.349C>A c.*838C>A (n.*838C>A) c.*1305C>A (n.*1305C>A) c.189C>A (p.Ser63=) c.1308C>A (p.Ser436=) c.1533C>A (p.Ser511=) c.1464C>A (p.Ser488=) | |
| 11 | g.66850007G>A | CA381491864 | PC | c.2828C>T (p.Ser943Phe) n.348C>T c.*837C>T (n.*837C>T) c.*1304C>T (n.*1304C>T) c.188C>T (p.Ser63Phe) c.1307C>T (p.Ser436Phe) c.1532C>T (p.Ser511Phe) c.1463C>T (p.Ser488Phe) | |
| 11 | g.66850007G>C | CA381491865 | PC | c.2828C>G (p.Ser943Cys) n.348C>G c.*837C>G (n.*837C>G) c.*1304C>G (n.*1304C>G) c.188C>G (p.Ser63Cys) c.1307C>G (p.Ser436Cys) c.1532C>G (p.Ser511Cys) c.1463C>G (p.Ser488Cys) | |
| 11 | g.66850007G>T | CA381491867 | PC | c.2828C>A (p.Ser943Tyr) n.348C>A c.*837C>A (n.*837C>A) c.*1304C>A (n.*1304C>A) c.188C>A (p.Ser63Tyr) c.1307C>A (p.Ser436Tyr) c.1532C>A (p.Ser511Tyr) c.1463C>A (p.Ser488Tyr) | |
| 11 | g.66850008A>C | CA381491869 | PC | c.2827T>G (p.Ser943Ala) n.347T>G c.*836T>G (n.*836T>G) c.*1303T>G (n.*1303T>G) c.187T>G (p.Ser63Ala) c.1306T>G (p.Ser436Ala) c.1531T>G (p.Ser511Ala) c.1462T>G (p.Ser488Ala) | |
| 11 | g.66850008A>G | CA381491871 | PC | c.2827T>C (p.Ser943Pro) n.347T>C c.*836T>C (n.*836T>C) c.*1303T>C (n.*1303T>C) c.187T>C (p.Ser63Pro) c.1306T>C (p.Ser436Pro) c.1531T>C (p.Ser511Pro) c.1462T>C (p.Ser488Pro) | |
| 11 | g.66850008A>T | CA381491872 | PC | c.2827T>A (p.Ser943Thr) n.347T>A c.*836T>A (n.*836T>A) c.*1303T>A (n.*1303T>A) c.187T>A (p.Ser63Thr) c.1306T>A (p.Ser436Thr) c.1531T>A (p.Ser511Thr) c.1462T>A (p.Ser488Thr) | |
| 11 | g.66850009G>A | CA475500631 | PC | c.2826C>T (p.Arg942=) n.346C>T c.*835C>T (n.*835C>T) c.*1302C>T (n.*1302C>T) c.186C>T (p.Arg62=) c.1305C>T (p.Arg435=) c.1530C>T (p.Arg510=) c.1461C>T (p.Arg487=) | |
| 11 | g.66850009G>C | CA475500632 | PC | c.2826C>G (p.Arg942=) n.346C>G c.*835C>G (n.*835C>G) c.*1302C>G (n.*1302C>G) c.186C>G (p.Arg62=) c.1305C>G (p.Arg435=) c.1530C>G (p.Arg510=) c.1461C>G (p.Arg487=) | |
| 11 | g.66850009G>T | CA475500633 | PC | c.2826C>A (p.Arg942=) n.346C>A c.*835C>A (n.*835C>A) c.*1302C>A (n.*1302C>A) c.186C>A (p.Arg62=) c.1305C>A (p.Arg435=) c.1530C>A (p.Arg510=) c.1461C>A (p.Arg487=) | ClinVar |
| 11 | g.66850010C>A | CA381491876 | PC | c.2825G>T (p.Arg942Leu) n.345G>T c.*834G>T (n.*834G>T) c.*1301G>T (n.*1301G>T) c.185G>T (p.Arg62Leu) c.1304G>T (p.Arg435Leu) c.1529G>T (p.Arg510Leu) c.1460G>T (p.Arg487Leu) | |
| 11 | g.66850010C= | CA1979910044 | PC | c.2825G= (p.Arg942=) n.345G= c.*834G= (n.*834G=) c.*1301G= (n.*1301G=) c.185G= (p.Arg62=) c.1304G= (p.Arg435=) c.1529G= (p.Arg510=) c.1460G= (p.Arg487=) | |
| 11 | g.66850010C>G | CA381491874 | PC | c.2825G>C (p.Arg942Pro) n.345G>C c.*834G>C (n.*834G>C) c.*1301G>C (n.*1301G>C) c.185G>C (p.Arg62Pro) c.1304G>C (p.Arg435Pro) c.1529G>C (p.Arg510Pro) c.1460G>C (p.Arg487Pro) | |
| 11 | g.66850010C>T | CA6130966 | PC | c.2825G>A (p.Arg942His) n.345G>A c.*834G>A (n.*834G>A) c.*1301G>A (n.*1301G>A) c.185G>A (p.Arg62His) c.1304G>A (p.Arg435His) c.1529G>A (p.Arg510His) c.1460G>A (p.Arg487His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850011G>A | CA224122340 | PC | c.2824C>T (p.Arg942Cys) n.344C>T c.*833C>T (n.*833C>T) c.*1300C>T (n.*1300C>T) c.184C>T (p.Arg62Cys) c.1303C>T (p.Arg435Cys) c.1528C>T (p.Arg510Cys) c.1459C>T (p.Arg487Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850011G>C | CA381491878 | PC | c.2824C>G (p.Arg942Gly) n.344C>G c.*833C>G (n.*833C>G) c.*1300C>G (n.*1300C>G) c.184C>G (p.Arg62Gly) c.1303C>G (p.Arg435Gly) c.1528C>G (p.Arg510Gly) c.1459C>G (p.Arg487Gly) | |
| 11 | g.66850011G= | CA1979910050 | PC | c.2824C= (p.Arg942=) n.344C= c.*833C= (n.*833C=) c.*1300C= (n.*1300C=) c.184C= (p.Arg62=) c.1303C= (p.Arg435=) c.1528C= (p.Arg510=) c.1459C= (p.Arg487=) | |
| 11 | g.66850011G>T | CA381491879 | PC | c.2824C>A (p.Arg942Ser) n.344C>A c.*833C>A (n.*833C>A) c.*1300C>A (n.*1300C>A) c.184C>A (p.Arg62Ser) c.1303C>A (p.Arg435Ser) c.1528C>A (p.Arg510Ser) c.1459C>A (p.Arg487Ser) | |
| 11 | g.66850014del | CA600234164 | PC | c.2824del (p.Arg942AlafsTer27) n.344del c.*833del (n.*833del) c.*1300del (n.*1300del) c.184del (p.Arg62AlafsTer27) c.1303del (p.Arg435AlafsTer27) c.1528del (p.Arg510AlafsTer27) c.1459del (p.Arg487AlafsTer27) | gnomAD v2 gnomAD v4 |
| 11 | g.66850012G>A | CA475500634 | PC | c.2823C>T (p.Pro941=) n.343C>T c.*832C>T (n.*832C>T) c.*1299C>T (n.*1299C>T) c.183C>T (p.Pro61=) c.1302C>T (p.Pro434=) c.1527C>T (p.Pro509=) c.1458C>T (p.Pro486=) | |
| 11 | g.66850012G>C | CA475500636 | PC | c.2823C>G (p.Pro941=) n.343C>G c.*832C>G (n.*832C>G) c.*1299C>G (n.*1299C>G) c.183C>G (p.Pro61=) c.1302C>G (p.Pro434=) c.1527C>G (p.Pro509=) c.1458C>G (p.Pro486=) | |
| 11 | g.66850012G>T | CA475500635 | PC | c.2823C>A (p.Pro941=) n.343C>A c.*832C>A (n.*832C>A) c.*1299C>A (n.*1299C>A) c.183C>A (p.Pro61=) c.1302C>A (p.Pro434=) c.1527C>A (p.Pro509=) c.1458C>A (p.Pro486=) | |
| 11 | g.66850013G>A | CA381491881 | PC | c.2822C>T (p.Pro941Leu) n.342C>T c.*831C>T (n.*831C>T) c.*1298C>T (n.*1298C>T) c.182C>T (p.Pro61Leu) c.1301C>T (p.Pro434Leu) c.1526C>T (p.Pro509Leu) c.1457C>T (p.Pro486Leu) | |
| 11 | g.66850013G>C | CA381491882 | PC | c.2822C>G (p.Pro941Arg) n.342C>G c.*831C>G (n.*831C>G) c.*1298C>G (n.*1298C>G) c.182C>G (p.Pro61Arg) c.1301C>G (p.Pro434Arg) c.1526C>G (p.Pro509Arg) c.1457C>G (p.Pro486Arg) | |
| 11 | g.66850013G>T | CA381491883 | PC | c.2822C>A (p.Pro941His) n.342C>A c.*831C>A (n.*831C>A) c.*1298C>A (n.*1298C>A) c.182C>A (p.Pro61His) c.1301C>A (p.Pro434His) c.1526C>A (p.Pro509His) c.1457C>A (p.Pro486His) | |
| 11 | g.66850014G>A | CA381491885 | PC | c.2821C>T (p.Pro941Ser) n.341C>T c.*830C>T (n.*830C>T) c.*1297C>T (n.*1297C>T) c.181C>T (p.Pro61Ser) c.1300C>T (p.Pro434Ser) c.1525C>T (p.Pro509Ser) c.1456C>T (p.Pro486Ser) | |
| 11 | g.66850014G>C | CA381491887 | PC | c.2821C>G (p.Pro941Ala) n.341C>G c.*830C>G (n.*830C>G) c.*1297C>G (n.*1297C>G) c.181C>G (p.Pro61Ala) c.1300C>G (p.Pro434Ala) c.1525C>G (p.Pro509Ala) c.1456C>G (p.Pro486Ala) | |
| 11 | g.66850014G>T | CA381491888 | PC | c.2821C>A (p.Pro941Thr) n.341C>A c.*830C>A (n.*830C>A) c.*1297C>A (n.*1297C>A) c.181C>A (p.Pro61Thr) c.1300C>A (p.Pro434Thr) c.1525C>A (p.Pro509Thr) c.1456C>A (p.Pro486Thr) | |
| 11 | g.66850015A= | CA1979910056 | PC | c.2820T= (p.Phe940=) n.340T= c.*829T= (n.*829T=) c.*1296T= (n.*1296T=) c.180T= (p.Phe60=) c.1299T= (p.Phe433=) c.1524T= (p.Phe508=) c.1455T= (p.Phe485=) | |
| 11 | g.66850015A>C | CA381491890 | PC | c.2820T>G (p.Phe940Leu) n.340T>G c.*829T>G (n.*829T>G) c.*1296T>G (n.*1296T>G) c.180T>G (p.Phe60Leu) c.1299T>G (p.Phe433Leu) c.1524T>G (p.Phe508Leu) c.1455T>G (p.Phe485Leu) | |
| 11 | g.66850015A>G | CA475500637 | PC | c.2820T>C (p.Phe940=) n.340T>C c.*829T>C (n.*829T>C) c.*1296T>C (n.*1296T>C) c.180T>C (p.Phe60=) c.1299T>C (p.Phe433=) c.1524T>C (p.Phe508=) c.1455T>C (p.Phe485=) | ClinVar dbSNP |
| 11 | g.66850015A>T | CA381491891 | PC | c.2820T>A (p.Phe940Leu) n.340T>A c.*829T>A (n.*829T>A) c.*1296T>A (n.*1296T>A) c.180T>A (p.Phe60Leu) c.1299T>A (p.Phe433Leu) c.1524T>A (p.Phe508Leu) c.1455T>A (p.Phe485Leu) | |
| 11 | g.66850017del | CA2614541051 | PC | c.2820del (p.Arg942AlafsTer27) n.340del c.*829del (n.*829del) c.*1296del (n.*1296del) c.180del (p.Arg62AlafsTer27) c.1299del (p.Arg435AlafsTer27) c.1524del (p.Arg510AlafsTer27) c.1455del (p.Arg487AlafsTer27) | gnomAD v4 |
| 11 | g.66850016A= | CA1979910061 | PC | c.2819T= (p.Phe940=) n.339T= c.*828T= (n.*828T=) c.*1295T= (n.*1295T=) c.179T= (p.Phe60=) c.1298T= (p.Phe433=) c.1523T= (p.Phe508=) c.1454T= (p.Phe485=) | |
| 11 | g.66850016A>C | CA6130967 | PC | c.2819T>G (p.Phe940Cys) n.339T>G c.*828T>G (n.*828T>G) c.*1295T>G (n.*1295T>G) c.179T>G (p.Phe60Cys) c.1298T>G (p.Phe433Cys) c.1523T>G (p.Phe508Cys) c.1454T>G (p.Phe485Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850016A>G | CA381491893 | PC | c.2819T>C (p.Phe940Ser) n.339T>C c.*828T>C (n.*828T>C) c.*1295T>C (n.*1295T>C) c.179T>C (p.Phe60Ser) c.1298T>C (p.Phe433Ser) c.1523T>C (p.Phe508Ser) c.1454T>C (p.Phe485Ser) | |
| 11 | g.66850016A>T | CA381491895 | PC | c.2819T>A (p.Phe940Tyr) n.339T>A c.*828T>A (n.*828T>A) c.*1295T>A (n.*1295T>A) c.179T>A (p.Phe60Tyr) c.1298T>A (p.Phe433Tyr) c.1523T>A (p.Phe508Tyr) c.1454T>A (p.Phe485Tyr) | |
| 11 | g.66850017A>C | CA381491900 | PC | c.2818T>G (p.Phe940Val) n.338T>G c.*827T>G (n.*827T>G) c.*1294T>G (n.*1294T>G) c.178T>G (p.Phe60Val) c.1297T>G (p.Phe433Val) c.1522T>G (p.Phe508Val) c.1453T>G (p.Phe485Val) | |
| 11 | g.66850017A>G | CA381491898 | PC | c.2818T>C (p.Phe940Leu) n.338T>C c.*827T>C (n.*827T>C) c.*1294T>C (n.*1294T>C) c.178T>C (p.Phe60Leu) c.1297T>C (p.Phe433Leu) c.1522T>C (p.Phe508Leu) c.1453T>C (p.Phe485Leu) | |
| 11 | g.66850017A>T | CA381491897 | PC | c.2818T>A (p.Phe940Ile) n.338T>A c.*827T>A (n.*827T>A) c.*1294T>A (n.*1294T>A) c.178T>A (p.Phe60Ile) c.1297T>A (p.Phe433Ile) c.1522T>A (p.Phe508Ile) c.1453T>A (p.Phe485Ile) | |
| 11 | g.66850018G>A | CA6130968 | PC | c.2817C>T (p.Ser939=) n.337C>T c.*826C>T (n.*826C>T) c.*1293C>T (n.*1293C>T) c.177C>T (p.Ser59=) c.1296C>T (p.Ser432=) c.1521C>T (p.Ser507=) c.1452C>T (p.Ser484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850018G>C | CA475500641 | PC | c.2817C>G (p.Ser939=) n.337C>G c.*826C>G (n.*826C>G) c.*1293C>G (n.*1293C>G) c.177C>G (p.Ser59=) c.1296C>G (p.Ser432=) c.1521C>G (p.Ser507=) c.1452C>G (p.Ser484=) | |
| 11 | g.66850018G= | CA1979910064 | PC | c.2817C= (p.Ser939=) n.337C= c.*826C= (n.*826C=) c.*1293C= (n.*1293C=) c.177C= (p.Ser59=) c.1296C= (p.Ser432=) c.1521C= (p.Ser507=) c.1452C= (p.Ser484=) | |
| 11 | g.66850018G>T | CA475500642 | PC | c.2817C>A (p.Ser939=) n.337C>A c.*826C>A (n.*826C>A) c.*1293C>A (n.*1293C>A) c.177C>A (p.Ser59=) c.1296C>A (p.Ser432=) c.1521C>A (p.Ser507=) c.1452C>A (p.Ser484=) | |
| 11 | g.66850019G>A | CA381491902 | PC | c.2816C>T (p.Ser939Phe) n.336C>T c.*825C>T (n.*825C>T) c.*1292C>T (n.*1292C>T) c.176C>T (p.Ser59Phe) c.1295C>T (p.Ser432Phe) c.1520C>T (p.Ser507Phe) c.1451C>T (p.Ser484Phe) | |
| 11 | g.66850019G>C | CA381491904 | PC | c.2816C>G (p.Ser939Cys) n.336C>G c.*825C>G (n.*825C>G) c.*1292C>G (n.*1292C>G) c.176C>G (p.Ser59Cys) c.1295C>G (p.Ser432Cys) c.1520C>G (p.Ser507Cys) c.1451C>G (p.Ser484Cys) | |
| 11 | g.66850019G>T | CA381491903 | PC | c.2816C>A (p.Ser939Tyr) n.336C>A c.*825C>A (n.*825C>A) c.*1292C>A (n.*1292C>A) c.176C>A (p.Ser59Tyr) c.1295C>A (p.Ser432Tyr) c.1520C>A (p.Ser507Tyr) c.1451C>A (p.Ser484Tyr) | |
| 11 | g.66850020A>C | CA381491905 | PC | c.2815T>G (p.Ser939Ala) n.335T>G c.*824T>G (n.*824T>G) c.*1291T>G (n.*1291T>G) c.175T>G (p.Ser59Ala) c.1294T>G (p.Ser432Ala) c.1519T>G (p.Ser507Ala) c.1450T>G (p.Ser484Ala) | |
| 11 | g.66850020A>G | CA381491909 | PC | c.2815T>C (p.Ser939Pro) n.335T>C c.*824T>C (n.*824T>C) c.*1291T>C (n.*1291T>C) c.175T>C (p.Ser59Pro) c.1294T>C (p.Ser432Pro) c.1519T>C (p.Ser507Pro) c.1450T>C (p.Ser484Pro) | |
| 11 | g.66850020A>T | CA381491907 | PC | c.2815T>A (p.Ser939Thr) n.335T>A c.*824T>A (n.*824T>A) c.*1291T>A (n.*1291T>A) c.175T>A (p.Ser59Thr) c.1294T>A (p.Ser432Thr) c.1519T>A (p.Ser507Thr) c.1450T>A (p.Ser484Thr) | |
| 11 | g.66850021C>A | CA475500651 | PC | c.2814G>T (p.Leu938=) n.334G>T c.*823G>T (n.*823G>T) c.*1290G>T (n.*1290G>T) c.174G>T (p.Leu58=) c.1293G>T (p.Leu431=) c.1518G>T (p.Leu506=) c.1449G>T (p.Leu483=) | |
| 11 | g.66850021C= | CA1979910072 | PC | c.2814G= (p.Leu938=) n.334G= c.*823G= (n.*823G=) c.*1290G= (n.*1290G=) c.174G= (p.Leu58=) c.1293G= (p.Leu431=) c.1518G= (p.Leu506=) c.1449G= (p.Leu483=) | |
| 11 | g.66850021C>G | CA475500649 | PC | c.2814G>C (p.Leu938=) n.334G>C c.*823G>C (n.*823G>C) c.*1290G>C (n.*1290G>C) c.174G>C (p.Leu58=) c.1293G>C (p.Leu431=) c.1518G>C (p.Leu506=) c.1449G>C (p.Leu483=) | dbSNP |
| 11 | g.66850021C>T | CA6130969 | PC | c.2814G>A (p.Leu938=) n.334G>A c.*823G>A (n.*823G>A) c.*1290G>A (n.*1290G>A) c.174G>A (p.Leu58=) c.1293G>A (p.Leu431=) c.1518G>A (p.Leu506=) c.1449G>A (p.Leu483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850022A>C | CA381491912 | PC | c.2813T>G (p.Leu938Arg) n.333T>G c.*822T>G (n.*822T>G) c.*1289T>G (n.*1289T>G) c.173T>G (p.Leu58Arg) c.1292T>G (p.Leu431Arg) c.1517T>G (p.Leu506Arg) c.1448T>G (p.Leu483Arg) | gnomAD v4 |
| 11 | g.66850022A>G | CA381491911 | PC | c.2813T>C (p.Leu938Pro) n.333T>C c.*822T>C (n.*822T>C) c.*1289T>C (n.*1289T>C) c.173T>C (p.Leu58Pro) c.1292T>C (p.Leu431Pro) c.1517T>C (p.Leu506Pro) c.1448T>C (p.Leu483Pro) | |
| 11 | g.66850022A>T | CA381491913 | PC | c.2813T>A (p.Leu938Gln) n.333T>A c.*822T>A (n.*822T>A) c.*1289T>A (n.*1289T>A) c.173T>A (p.Leu58Gln) c.1292T>A (p.Leu431Gln) c.1517T>A (p.Leu506Gln) c.1448T>A (p.Leu483Gln) | |
| 11 | g.66850023G>A | CA475500655 | PC | c.2812C>T (p.Leu938=) n.332C>T c.*821C>T (n.*821C>T) c.*1288C>T (n.*1288C>T) c.172C>T (p.Leu58=) c.1291C>T (p.Leu431=) c.1516C>T (p.Leu506=) c.1447C>T (p.Leu483=) | ClinVar |
| 11 | g.66850023G>C | CA381491914 | PC | c.2812C>G (p.Leu938Val) n.332C>G c.*821C>G (n.*821C>G) c.*1288C>G (n.*1288C>G) c.172C>G (p.Leu58Val) c.1291C>G (p.Leu431Val) c.1516C>G (p.Leu506Val) c.1447C>G (p.Leu483Val) | |
| 11 | g.66850023G>T | CA381491915 | PC | c.2812C>A (p.Leu938Met) n.332C>A c.*821C>A (n.*821C>A) c.*1288C>A (n.*1288C>A) c.172C>A (p.Leu58Met) c.1291C>A (p.Leu431Met) c.1516C>A (p.Leu506Met) c.1447C>A (p.Leu483Met) | |
| 11 | g.66850024C>A | CA381491917 | PC | c.2811G>T (p.Glu937Asp) n.331G>T c.*820G>T (n.*820G>T) c.*1287G>T (n.*1287G>T) c.171G>T (p.Glu57Asp) c.1290G>T (p.Glu430Asp) c.1515G>T (p.Glu505Asp) c.1446G>T (p.Glu482Asp) | |
| 11 | g.66850024C>G | CA381491919 | PC | c.2811G>C (p.Glu937Asp) n.331G>C c.*820G>C (n.*820G>C) c.*1287G>C (n.*1287G>C) c.171G>C (p.Glu57Asp) c.1290G>C (p.Glu430Asp) c.1515G>C (p.Glu505Asp) c.1446G>C (p.Glu482Asp) | |
| 11 | g.66850024C>T | CA475500658 | PC | c.2811G>A (p.Glu937=) n.331G>A c.*820G>A (n.*820G>A) c.*1287G>A (n.*1287G>A) c.171G>A (p.Glu57=) c.1290G>A (p.Glu430=) c.1515G>A (p.Glu505=) c.1446G>A (p.Glu482=) | |
| 11 | g.66850025T>A | CA381491921 | PC | c.2810A>T (p.Glu937Val) n.330A>T c.*819A>T (n.*819A>T) c.*1286A>T (n.*1286A>T) c.170A>T (p.Glu57Val) c.1289A>T (p.Glu430Val) c.1514A>T (p.Glu505Val) c.1445A>T (p.Glu482Val) | |
| 11 | g.66850025T>C | CA381491922 | PC | c.2810A>G (p.Glu937Gly) n.330A>G c.*819A>G (n.*819A>G) c.*1286A>G (n.*1286A>G) c.170A>G (p.Glu57Gly) c.1289A>G (p.Glu430Gly) c.1514A>G (p.Glu505Gly) c.1445A>G (p.Glu482Gly) | |
| 11 | g.66850025T>G | CA381491923 | PC | c.2810A>C (p.Glu937Ala) n.330A>C c.*819A>C (n.*819A>C) c.*1286A>C (n.*1286A>C) c.170A>C (p.Glu57Ala) c.1289A>C (p.Glu430Ala) c.1514A>C (p.Glu505Ala) c.1445A>C (p.Glu482Ala) | |
| 11 | g.66850026C>A | CA381491926 | PC | c.2809G>T (p.Glu937Ter) n.329G>T c.*818G>T (n.*818G>T) c.*1285G>T (n.*1285G>T) c.169G>T (p.Glu57Ter) c.1288G>T (p.Glu430Ter) c.1513G>T (p.Glu505Ter) c.1444G>T (p.Glu482Ter) | |
| 11 | g.66850026C= | CA1979910102 | PC | c.2809G= (p.Glu937=) n.329G= c.*818G= (n.*818G=) c.*1285G= (n.*1285G=) c.169G= (p.Glu57=) c.1288G= (p.Glu430=) c.1513G= (p.Glu505=) c.1444G= (p.Glu482=) | |
| 11 | g.66850026C>G | CA381491925 | PC | c.2809G>C (p.Glu937Gln) n.329G>C c.*818G>C (n.*818G>C) c.*1285G>C (n.*1285G>C) c.169G>C (p.Glu57Gln) c.1288G>C (p.Glu430Gln) c.1513G>C (p.Glu505Gln) c.1444G>C (p.Glu482Gln) | |
| 11 | g.66850026C>T | CA224122358 | PC | c.2809G>A (p.Glu937Lys) n.329G>A c.*818G>A (n.*818G>A) c.*1285G>A (n.*1285G>A) c.169G>A (p.Glu57Lys) c.1288G>A (p.Glu430Lys) c.1513G>A (p.Glu505Lys) c.1444G>A (p.Glu482Lys) | dbSNP gnomAD v4 |
| 11 | g.66850027T>A | CA381491928 | PC | c.2808A>T (p.Glu936Asp) n.328A>T c.*817A>T (n.*817A>T) c.*1284A>T (n.*1284A>T) c.168A>T (p.Glu56Asp) c.1287A>T (p.Glu429Asp) c.1512A>T (p.Glu504Asp) c.1443A>T (p.Glu481Asp) | dbSNP |
| 11 | g.66850027T>C | CA475501167 | PC | c.2808A>G (p.Glu936=) n.328A>G c.*817A>G (n.*817A>G) c.*1284A>G (n.*1284A>G) c.168A>G (p.Glu56=) c.1287A>G (p.Glu429=) c.1512A>G (p.Glu504=) c.1443A>G (p.Glu481=) | |
| 11 | g.66850027T>G | CA381491929 | PC | c.2808A>C (p.Glu936Asp) n.328A>C c.*817A>C (n.*817A>C) c.*1284A>C (n.*1284A>C) c.168A>C (p.Glu56Asp) c.1287A>C (p.Glu429Asp) c.1512A>C (p.Glu504Asp) c.1443A>C (p.Glu481Asp) | |
| 11 | g.66850027T= | CA1979910107 | PC | c.2808A= (p.Glu936=) n.328A= c.*817A= (n.*817A=) c.*1284A= (n.*1284A=) c.168A= (p.Glu56=) c.1287A= (p.Glu429=) c.1512A= (p.Glu504=) c.1443A= (p.Glu481=) | |
| 11 | g.66850028T>A | CA381491931 | PC | c.2807A>T (p.Glu936Val) n.327A>T c.*816A>T (n.*816A>T) c.*1283A>T (n.*1283A>T) c.167A>T (p.Glu56Val) c.1286A>T (p.Glu429Val) c.1511A>T (p.Glu504Val) c.1442A>T (p.Glu481Val) | |
| 11 | g.66850028T>C | CA381491932 | PC | c.2807A>G (p.Glu936Gly) n.327A>G c.*816A>G (n.*816A>G) c.*1283A>G (n.*1283A>G) c.167A>G (p.Glu56Gly) c.1286A>G (p.Glu429Gly) c.1511A>G (p.Glu504Gly) c.1442A>G (p.Glu481Gly) | |
| 11 | g.66850028T>G | CA381491934 | PC | c.2807A>C (p.Glu936Ala) n.327A>C c.*816A>C (n.*816A>C) c.*1283A>C (n.*1283A>C) c.167A>C (p.Glu56Ala) c.1286A>C (p.Glu429Ala) c.1511A>C (p.Glu504Ala) c.1442A>C (p.Glu481Ala) | |
| 11 | g.66850029C>A | CA381491936 | PC | c.2806G>T (p.Glu936Ter) n.326G>T c.*815G>T (n.*815G>T) c.*1282G>T (n.*1282G>T) c.166G>T (p.Glu56Ter) c.1285G>T (p.Glu429Ter) c.1510G>T (p.Glu504Ter) c.1441G>T (p.Glu481Ter) | |
| 11 | g.66850029C>G | CA381491938 | PC | c.2806G>C (p.Glu936Gln) n.326G>C c.*815G>C (n.*815G>C) c.*1282G>C (n.*1282G>C) c.166G>C (p.Glu56Gln) c.1285G>C (p.Glu429Gln) c.1510G>C (p.Glu504Gln) c.1441G>C (p.Glu481Gln) | |
| 11 | g.66850029C>T | CA381491937 | PC | c.2806G>A (p.Glu936Lys) n.326G>A c.*815G>A (n.*815G>A) c.*1282G>A (n.*1282G>A) c.166G>A (p.Glu56Lys) c.1285G>A (p.Glu429Lys) c.1510G>A (p.Glu504Lys) c.1441G>A (p.Glu481Lys) | |
| 11 | g.66850030C>A | CA475501173 | PC | c.2805G>T (p.Ala935=) n.325G>T c.*814G>T (n.*814G>T) c.*1281G>T (n.*1281G>T) c.165G>T (p.Ala55=) c.1284G>T (p.Ala428=) c.1509G>T (p.Ala503=) c.1440G>T (p.Ala480=) | ClinVar gnomAD v4 |
| 11 | g.66850030C= | CA1979910109 | PC | c.2805G= (p.Ala935=) n.325G= c.*814G= (n.*814G=) c.*1281G= (n.*1281G=) c.165G= (p.Ala55=) c.1284G= (p.Ala428=) c.1509G= (p.Ala503=) c.1440G= (p.Ala480=) | |
| 11 | g.66850030C>G | CA475501172 | PC | c.2805G>C (p.Ala935=) n.325G>C c.*814G>C (n.*814G>C) c.*1281G>C (n.*1281G>C) c.165G>C (p.Ala55=) c.1284G>C (p.Ala428=) c.1509G>C (p.Ala503=) c.1440G>C (p.Ala480=) | gnomAD v4 |
| 11 | g.66850030C>T | CA475501171 | PC | c.2805G>A (p.Ala935=) n.325G>A c.*814G>A (n.*814G>A) c.*1281G>A (n.*1281G>A) c.165G>A (p.Ala55=) c.1284G>A (p.Ala428=) c.1509G>A (p.Ala503=) c.1440G>A (p.Ala480=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850031_66850032del | CA2580084564 | PC | c.2804_2805del (p.Ala935GlyfsTer?) n.324_325del c.*813_*814del (n.*813_*814del) c.*1280_*1281del (n.*1280_*1281del) c.164_165del (p.Ala55GlyfsTer?) c.1283_1284del (p.Ala428GlyfsTer?) c.1508_1509del (p.Ala503GlyfsTer?) c.1439_1440del (p.Ala480GlyfsTer?) | ClinVar |
| 11 | g.66850031G>A | CA312905 | PC | c.2804C>T (p.Ala935Val) n.324C>T c.*813C>T (n.*813C>T) c.*1280C>T (n.*1280C>T) c.164C>T (p.Ala55Val) c.1283C>T (p.Ala428Val) c.1508C>T (p.Ala503Val) c.1439C>T (p.Ala480Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850031G>C | CA381491941 | PC | c.2804C>G (p.Ala935Gly) n.324C>G c.*813C>G (n.*813C>G) c.*1280C>G (n.*1280C>G) c.164C>G (p.Ala55Gly) c.1283C>G (p.Ala428Gly) c.1508C>G (p.Ala503Gly) c.1439C>G (p.Ala480Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850031G= | CA1979910114 | PC | c.2804C= (p.Ala935=) n.324C= c.*813C= (n.*813C=) c.*1280C= (n.*1280C=) c.164C= (p.Ala55=) c.1283C= (p.Ala428=) c.1508C= (p.Ala503=) c.1439C= (p.Ala480=) | |
| 11 | g.66850031G>T | CA381491943 | PC | c.2804C>A (p.Ala935Glu) n.324C>A c.*813C>A (n.*813C>A) c.*1280C>A (n.*1280C>A) c.164C>A (p.Ala55Glu) c.1283C>A (p.Ala428Glu) c.1508C>A (p.Ala503Glu) c.1439C>A (p.Ala480Glu) | |
| 11 | g.66850032C>A | CA381491944 | PC | c.2803G>T (p.Ala935Ser) n.323G>T c.*812G>T (n.*812G>T) c.*1279G>T (n.*1279G>T) c.163G>T (p.Ala55Ser) c.1282G>T (p.Ala428Ser) c.1507G>T (p.Ala503Ser) c.1438G>T (p.Ala480Ser) | |
| 11 | g.66850032C>G | CA381491945 | PC | c.2803G>C (p.Ala935Pro) n.323G>C c.*812G>C (n.*812G>C) c.*1279G>C (n.*1279G>C) c.163G>C (p.Ala55Pro) c.1282G>C (p.Ala428Pro) c.1507G>C (p.Ala503Pro) c.1438G>C (p.Ala480Pro) | |
| 11 | g.66850032C>T | CA381491946 | PC | c.2803G>A (p.Ala935Thr) n.323G>A c.*812G>A (n.*812G>A) c.*1279G>A (n.*1279G>A) c.163G>A (p.Ala55Thr) c.1282G>A (p.Ala428Thr) c.1507G>A (p.Ala503Thr) c.1438G>A (p.Ala480Thr) | |
| 11 | g.66850033C>A | CA381491948 | PC | c.2802G>T (p.Gln934His) n.322G>T c.*811G>T (n.*811G>T) c.*1278G>T (n.*1278G>T) c.162G>T (p.Gln54His) c.1281G>T (p.Gln427His) c.1506G>T (p.Gln502His) c.1437G>T (p.Gln479His) | |
| 11 | g.66850033C>G | CA381491950 | PC | c.2802G>C (p.Gln934His) n.322G>C c.*811G>C (n.*811G>C) c.*1278G>C (n.*1278G>C) c.162G>C (p.Gln54His) c.1281G>C (p.Gln427His) c.1506G>C (p.Gln502His) c.1437G>C (p.Gln479His) | |
| 11 | g.66850033C>T | CA475501175 | PC | c.2802G>A (p.Gln934=) n.322G>A c.*811G>A (n.*811G>A) c.*1278G>A (n.*1278G>A) c.162G>A (p.Gln54=) c.1281G>A (p.Gln427=) c.1506G>A (p.Gln502=) c.1437G>A (p.Gln479=) | |
| 11 | g.66850034T>A | CA381491951 | PC | c.2801A>T (p.Gln934Leu) n.321A>T c.*810A>T (n.*810A>T) c.*1277A>T (n.*1277A>T) c.161A>T (p.Gln54Leu) c.1280A>T (p.Gln427Leu) c.1505A>T (p.Gln502Leu) c.1436A>T (p.Gln479Leu) | |
| 11 | g.66850034T>C | CA381491952 | PC | c.2801A>G (p.Gln934Arg) n.321A>G c.*810A>G (n.*810A>G) c.*1277A>G (n.*1277A>G) c.161A>G (p.Gln54Arg) c.1280A>G (p.Gln427Arg) c.1505A>G (p.Gln502Arg) c.1436A>G (p.Gln479Arg) | gnomAD v4 |
| 11 | g.66850034T>G | CA381491953 | PC | c.2801A>C (p.Gln934Pro) n.321A>C c.*810A>C (n.*810A>C) c.*1277A>C (n.*1277A>C) c.161A>C (p.Gln54Pro) c.1280A>C (p.Gln427Pro) c.1505A>C (p.Gln502Pro) c.1436A>C (p.Gln479Pro) | |
| 11 | g.66850035G>A | CA381491957 | PC | c.2800C>T (p.Gln934Ter) n.320C>T c.*809C>T (n.*809C>T) c.*1276C>T (n.*1276C>T) c.160C>T (p.Gln54Ter) c.1279C>T (p.Gln427Ter) c.1504C>T (p.Gln502Ter) c.1435C>T (p.Gln479Ter) | ClinVar gnomAD v4 |
| 11 | g.66850035G>C | CA381491955 | PC | c.2800C>G (p.Gln934Glu) n.320C>G c.*809C>G (n.*809C>G) c.*1276C>G (n.*1276C>G) c.160C>G (p.Gln54Glu) c.1279C>G (p.Gln427Glu) c.1504C>G (p.Gln502Glu) c.1435C>G (p.Gln479Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850035G= | CA1979910122 | PC | c.2800C= (p.Gln934=) n.320C= c.*809C= (n.*809C=) c.*1276C= (n.*1276C=) c.160C= (p.Gln54=) c.1279C= (p.Gln427=) c.1504C= (p.Gln502=) c.1435C= (p.Gln479=) | |
| 11 | g.66850035G>T | CA381491956 | PC | c.2800C>A (p.Gln934Lys) n.320C>A c.*809C>A (n.*809C>A) c.*1276C>A (n.*1276C>A) c.160C>A (p.Gln54Lys) c.1279C>A (p.Gln427Lys) c.1504C>A (p.Gln502Lys) c.1435C>A (p.Gln479Lys) | |
| 11 | g.66850036A>C | CA475501179 | PC | c.2799T>G (p.Ala933=) n.319T>G c.*808T>G (n.*808T>G) c.*1275T>G (n.*1275T>G) c.159T>G (p.Ala53=) c.1278T>G (p.Ala426=) c.1503T>G (p.Ala501=) c.1434T>G (p.Ala478=) | |
| 11 | g.66850036A>G | CA475501180 | PC | c.2799T>C (p.Ala933=) n.319T>C c.*808T>C (n.*808T>C) c.*1275T>C (n.*1275T>C) c.159T>C (p.Ala53=) c.1278T>C (p.Ala426=) c.1503T>C (p.Ala501=) c.1434T>C (p.Ala478=) | |
| 11 | g.66850036A>T | CA475501181 | PC | c.2799T>A (p.Ala933=) n.319T>A c.*808T>A (n.*808T>A) c.*1275T>A (n.*1275T>A) c.159T>A (p.Ala53=) c.1278T>A (p.Ala426=) c.1503T>A (p.Ala501=) c.1434T>A (p.Ala478=) | |
| 11 | g.66850037G>A | CA381491958 | PC | c.2798C>T (p.Ala933Val) n.318C>T c.*807C>T (n.*807C>T) c.*1274C>T (n.*1274C>T) c.158C>T (p.Ala53Val) c.1277C>T (p.Ala426Val) c.1502C>T (p.Ala501Val) c.1433C>T (p.Ala478Val) | |
| 11 | g.66850037G>C | CA381491960 | PC | c.2798C>G (p.Ala933Gly) n.318C>G c.*807C>G (n.*807C>G) c.*1274C>G (n.*1274C>G) c.158C>G (p.Ala53Gly) c.1277C>G (p.Ala426Gly) c.1502C>G (p.Ala501Gly) c.1433C>G (p.Ala478Gly) | |
| 11 | g.66850037G>T | CA381491962 | PC | c.2798C>A (p.Ala933Asp) n.318C>A c.*807C>A (n.*807C>A) c.*1274C>A (n.*1274C>A) c.158C>A (p.Ala53Asp) c.1277C>A (p.Ala426Asp) c.1502C>A (p.Ala501Asp) c.1433C>A (p.Ala478Asp) | |
| 11 | g.66850038C>A | CA381491964 | PC | c.2797G>T (p.Ala933Ser) n.317G>T c.*806G>T (n.*806G>T) c.*1273G>T (n.*1273G>T) c.157G>T (p.Ala53Ser) c.1276G>T (p.Ala426Ser) c.1501G>T (p.Ala501Ser) c.1432G>T (p.Ala478Ser) | |
| 11 | g.66850038C>G | CA381491965 | PC | c.2797G>C (p.Ala933Pro) n.317G>C c.*806G>C (n.*806G>C) c.*1273G>C (n.*1273G>C) c.157G>C (p.Ala53Pro) c.1276G>C (p.Ala426Pro) c.1501G>C (p.Ala501Pro) c.1432G>C (p.Ala478Pro) | |
| 11 | g.66850038C>T | CA381491966 | PC | c.2797G>A (p.Ala933Thr) n.317G>A c.*806G>A (n.*806G>A) c.*1273G>A (n.*1273G>A) c.157G>A (p.Ala53Thr) c.1276G>A (p.Ala426Thr) c.1501G>A (p.Ala501Thr) c.1432G>A (p.Ala478Thr) | |
| 11 | g.66850039T>A | CA381491968 | PC | c.2796A>T (p.Glu932Asp) n.316A>T c.*805A>T (n.*805A>T) c.*1272A>T (n.*1272A>T) c.156A>T (p.Glu52Asp) c.1275A>T (p.Glu425Asp) c.1500A>T (p.Glu500Asp) c.1431A>T (p.Glu477Asp) | |
| 11 | g.66850039T>C | CA475501183 | PC | c.2796A>G (p.Glu932=) n.316A>G c.*805A>G (n.*805A>G) c.*1272A>G (n.*1272A>G) c.156A>G (p.Glu52=) c.1275A>G (p.Glu425=) c.1500A>G (p.Glu500=) c.1431A>G (p.Glu477=) | |
| 11 | g.66850039T>G | CA381491970 | PC | c.2796A>C (p.Glu932Asp) n.316A>C c.*805A>C (n.*805A>C) c.*1272A>C (n.*1272A>C) c.156A>C (p.Glu52Asp) c.1275A>C (p.Glu425Asp) c.1500A>C (p.Glu500Asp) c.1431A>C (p.Glu477Asp) | |
| 11 | g.66850040T>A | CA381491971 | PC | c.2795A>T (p.Glu932Val) n.315A>T c.*804A>T (n.*804A>T) c.*1271A>T (n.*1271A>T) c.155A>T (p.Glu52Val) c.1274A>T (p.Glu425Val) c.1499A>T (p.Glu500Val) c.1430A>T (p.Glu477Val) | |
| 11 | g.66850040T>C | CA381491972 | PC | c.2795A>G (p.Glu932Gly) n.315A>G c.*804A>G (n.*804A>G) c.*1271A>G (n.*1271A>G) c.155A>G (p.Glu52Gly) c.1274A>G (p.Glu425Gly) c.1499A>G (p.Glu500Gly) c.1430A>G (p.Glu477Gly) | |
| 11 | g.66850040T>G | CA381491974 | PC | c.2795A>C (p.Glu932Ala) n.315A>C c.*804A>C (n.*804A>C) c.*1271A>C (n.*1271A>C) c.155A>C (p.Glu52Ala) c.1274A>C (p.Glu425Ala) c.1499A>C (p.Glu500Ala) c.1430A>C (p.Glu477Ala) | |
| 11 | g.66850041C>A | CA381491976 | PC | c.2794G>T (p.Glu932Ter) n.314G>T c.*803G>T (n.*803G>T) c.*1270G>T (n.*1270G>T) c.154G>T (p.Glu52Ter) c.1273G>T (p.Glu425Ter) c.1498G>T (p.Glu500Ter) c.1429G>T (p.Glu477Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850041C= | CA1979910129 | PC | c.2794G= (p.Glu932=) n.314G= c.*803G= (n.*803G=) c.*1270G= (n.*1270G=) c.154G= (p.Glu52=) c.1273G= (p.Glu425=) c.1498G= (p.Glu500=) c.1429G= (p.Glu477=) | |
| 11 | g.66850041C>G | CA381491978 | PC | c.2794G>C (p.Glu932Gln) n.314G>C c.*803G>C (n.*803G>C) c.*1270G>C (n.*1270G>C) c.154G>C (p.Glu52Gln) c.1273G>C (p.Glu425Gln) c.1498G>C (p.Glu500Gln) c.1429G>C (p.Glu477Gln) | |
| 11 | g.66850041C>T | CA6130970 | PC | c.2794G>A (p.Glu932Lys) n.314G>A c.*803G>A (n.*803G>A) c.*1270G>A (n.*1270G>A) c.154G>A (p.Glu52Lys) c.1273G>A (p.Glu425Lys) c.1498G>A (p.Glu500Lys) c.1429G>A (p.Glu477Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850042G>A | CA6130971 | PC | c.2793C>T (p.Ala931=) n.313C>T c.*802C>T (n.*802C>T) c.*1269C>T (n.*1269C>T) c.153C>T (p.Ala51=) c.1272C>T (p.Ala424=) c.1497C>T (p.Ala499=) c.1428C>T (p.Ala476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850042G>C | CA6130972 | PC | c.2793C>G (p.Ala931=) n.313C>G c.*802C>G (n.*802C>G) c.*1269C>G (n.*1269C>G) c.153C>G (p.Ala51=) c.1272C>G (p.Ala424=) c.1497C>G (p.Ala499=) c.1428C>G (p.Ala476=) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.66850042G= | CA1979910134 | PC | c.2793C= (p.Ala931=) n.313C= c.*802C= (n.*802C=) c.*1269C= (n.*1269C=) c.153C= (p.Ala51=) c.1272C= (p.Ala424=) c.1497C= (p.Ala499=) c.1428C= (p.Ala476=) | |
| 11 | g.66850042G>T | CA475501188 | PC | c.2793C>A (p.Ala931=) n.313C>A c.*802C>A (n.*802C>A) c.*1269C>A (n.*1269C>A) c.153C>A (p.Ala51=) c.1272C>A (p.Ala424=) c.1497C>A (p.Ala499=) c.1428C>A (p.Ala476=) | dbSNP |
| 11 | g.66850043G>A | CA381491981 | PC | c.2792C>T (p.Ala931Val) n.312C>T c.*801C>T (n.*801C>T) c.*1268C>T (n.*1268C>T) c.152C>T (p.Ala51Val) c.1271C>T (p.Ala424Val) c.1496C>T (p.Ala499Val) c.1427C>T (p.Ala476Val) | |
| 11 | g.66850043G>C | CA381491983 | PC | c.2792C>G (p.Ala931Gly) n.312C>G c.*801C>G (n.*801C>G) c.*1268C>G (n.*1268C>G) c.152C>G (p.Ala51Gly) c.1271C>G (p.Ala424Gly) c.1496C>G (p.Ala499Gly) c.1427C>G (p.Ala476Gly) | |
| 11 | g.66850043G>T | CA381491984 | PC | c.2792C>A (p.Ala931Asp) n.312C>A c.*801C>A (n.*801C>A) c.*1268C>A (n.*1268C>A) c.152C>A (p.Ala51Asp) c.1271C>A (p.Ala424Asp) c.1496C>A (p.Ala499Asp) c.1427C>A (p.Ala476Asp) | |
| 11 | g.66850044C>A | CA381491986 | PC | c.2791G>T (p.Ala931Ser) n.311G>T c.*800G>T (n.*800G>T) c.*1267G>T (n.*1267G>T) c.151G>T (p.Ala51Ser) c.1270G>T (p.Ala424Ser) c.1495G>T (p.Ala499Ser) c.1426G>T (p.Ala476Ser) | |
| 11 | g.66850044C>G | CA381491988 | PC | c.2791G>C (p.Ala931Pro) n.311G>C c.*800G>C (n.*800G>C) c.*1267G>C (n.*1267G>C) c.151G>C (p.Ala51Pro) c.1270G>C (p.Ala424Pro) c.1495G>C (p.Ala499Pro) c.1426G>C (p.Ala476Pro) | |
| 11 | g.66850044C>T | CA381491989 | PC | c.2791G>A (p.Ala931Thr) n.311G>A c.*800G>A (n.*800G>A) c.*1267G>A (n.*1267G>A) c.151G>A (p.Ala51Thr) c.1270G>A (p.Ala424Thr) c.1495G>A (p.Ala499Thr) c.1426G>A (p.Ala476Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850045C>A | CA381491990 | PC | c.2790G>T (p.Glu930Asp) n.310G>T c.*799G>T (n.*799G>T) c.*1266G>T (n.*1266G>T) c.150G>T (p.Glu50Asp) c.1269G>T (p.Glu423Asp) c.1494G>T (p.Glu498Asp) c.1425G>T (p.Glu475Asp) | |
| 11 | g.66850045C= | CA1979910149 | PC | c.2790G= (p.Glu930=) n.310G= c.*799G= (n.*799G=) c.*1266G= (n.*1266G=) c.150G= (p.Glu50=) c.1269G= (p.Glu423=) c.1494G= (p.Glu498=) c.1425G= (p.Glu475=) | |
| 11 | g.66850045C>G | CA381491992 | PC | c.2790G>C (p.Glu930Asp) n.310G>C c.*799G>C (n.*799G>C) c.*1266G>C (n.*1266G>C) c.150G>C (p.Glu50Asp) c.1269G>C (p.Glu423Asp) c.1494G>C (p.Glu498Asp) c.1425G>C (p.Glu475Asp) | |
| 11 | g.66850045C>T | CA6130973 | PC | c.2790G>A (p.Glu930=) n.310G>A c.*799G>A (n.*799G>A) c.*1266G>A (n.*1266G>A) c.150G>A (p.Glu50=) c.1269G>A (p.Glu423=) c.1494G>A (p.Glu498=) c.1425G>A (p.Glu475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850046T>A | CA381491994 | PC | c.2789A>T (p.Glu930Val) n.309A>T c.*798A>T (n.*798A>T) c.*1265A>T (n.*1265A>T) c.149A>T (p.Glu50Val) c.1268A>T (p.Glu423Val) c.1493A>T (p.Glu498Val) c.1424A>T (p.Glu475Val) | |
| 11 | g.66850046T>C | CA381491996 | PC | c.2789A>G (p.Glu930Gly) n.309A>G c.*798A>G (n.*798A>G) c.*1265A>G (n.*1265A>G) c.149A>G (p.Glu50Gly) c.1268A>G (p.Glu423Gly) c.1493A>G (p.Glu498Gly) c.1424A>G (p.Glu475Gly) | |
| 11 | g.66850046T>G | CA381491997 | PC | c.2789A>C (p.Glu930Ala) n.309A>C c.*798A>C (n.*798A>C) c.*1265A>C (n.*1265A>C) c.149A>C (p.Glu50Ala) c.1268A>C (p.Glu423Ala) c.1493A>C (p.Glu498Ala) c.1424A>C (p.Glu475Ala) | |
| 11 | g.66850047C>A | CA381491999 | PC | c.2788G>T (p.Glu930Ter) n.308G>T c.*797G>T (n.*797G>T) c.*1264G>T (n.*1264G>T) c.148G>T (p.Glu50Ter) c.1267G>T (p.Glu423Ter) c.1492G>T (p.Glu498Ter) c.1423G>T (p.Glu475Ter) | |
| 11 | g.66850047C>G | CA381492002 | PC | c.2788G>C (p.Glu930Gln) n.308G>C c.*797G>C (n.*797G>C) c.*1264G>C (n.*1264G>C) c.148G>C (p.Glu50Gln) c.1267G>C (p.Glu423Gln) c.1492G>C (p.Glu498Gln) c.1423G>C (p.Glu475Gln) | |
| 11 | g.66850047C>T | CA381492001 | PC | c.2788G>A (p.Glu930Lys) n.308G>A c.*797G>A (n.*797G>A) c.*1264G>A (n.*1264G>A) c.148G>A (p.Glu50Lys) c.1267G>A (p.Glu423Lys) c.1492G>A (p.Glu498Lys) c.1423G>A (p.Glu475Lys) | |
| 11 | g.66850048T>A | CA475501193 | PC | c.2787A>T (p.Ala929=) n.307A>T c.*796A>T (n.*796A>T) c.*1263A>T (n.*1263A>T) c.147A>T (p.Ala49=) c.1266A>T (p.Ala422=) c.1491A>T (p.Ala497=) c.1422A>T (p.Ala474=) | |
| 11 | g.66850048T>C | CA475501195 | PC | c.2787A>G (p.Ala929=) n.307A>G c.*796A>G (n.*796A>G) c.*1263A>G (n.*1263A>G) c.147A>G (p.Ala49=) c.1266A>G (p.Ala422=) c.1491A>G (p.Ala497=) c.1422A>G (p.Ala474=) | ClinVar dbSNP |
| 11 | g.66850048T>G | CA475501194 | PC | c.2787A>C (p.Ala929=) n.307A>C c.*796A>C (n.*796A>C) c.*1263A>C (n.*1263A>C) c.147A>C (p.Ala49=) c.1266A>C (p.Ala422=) c.1491A>C (p.Ala497=) c.1422A>C (p.Ala474=) | |
| 11 | g.66850049G>A | CA381492003 | PC | c.2786C>T (p.Ala929Val) n.306C>T c.*795C>T (n.*795C>T) c.*1262C>T (n.*1262C>T) c.146C>T (p.Ala49Val) c.1265C>T (p.Ala422Val) c.1490C>T (p.Ala497Val) c.1421C>T (p.Ala474Val) | gnomAD v4 |
| 11 | g.66850049G>C | CA6130974 | PC | c.2786C>G (p.Ala929Gly) n.306C>G c.*795C>G (n.*795C>G) c.*1262C>G (n.*1262C>G) c.146C>G (p.Ala49Gly) c.1265C>G (p.Ala422Gly) c.1490C>G (p.Ala497Gly) c.1421C>G (p.Ala474Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850049G= | CA1979910174 | PC | c.2786C= (p.Ala929=) n.306C= c.*795C= (n.*795C=) c.*1262C= (n.*1262C=) c.146C= (p.Ala49=) c.1265C= (p.Ala422=) c.1490C= (p.Ala497=) c.1421C= (p.Ala474=) | |
| 11 | g.66850049G>T | CA381492004 | PC | c.2786C>A (p.Ala929Glu) n.306C>A c.*795C>A (n.*795C>A) c.*1262C>A (n.*1262C>A) c.146C>A (p.Ala49Glu) c.1265C>A (p.Ala422Glu) c.1490C>A (p.Ala497Glu) c.1421C>A (p.Ala474Glu) | |
| 11 | g.66850050C>A | CA381492006 | PC | c.2785G>T (p.Ala929Ser) n.305G>T c.*794G>T (n.*794G>T) c.*1261G>T (n.*1261G>T) c.145G>T (p.Ala49Ser) c.1264G>T (p.Ala422Ser) c.1489G>T (p.Ala497Ser) c.1420G>T (p.Ala474Ser) | |
| 11 | g.66850050C= | CA1979910179 | PC | c.2785G= (p.Ala929=) n.305G= c.*794G= (n.*794G=) c.*1261G= (n.*1261G=) c.145G= (p.Ala49=) c.1264G= (p.Ala422=) c.1489G= (p.Ala497=) c.1420G= (p.Ala474=) | |
| 11 | g.66850050C>G | CA381492007 | PC | c.2785G>C (p.Ala929Pro) n.305G>C c.*794G>C (n.*794G>C) c.*1261G>C (n.*1261G>C) c.145G>C (p.Ala49Pro) c.1264G>C (p.Ala422Pro) c.1489G>C (p.Ala497Pro) c.1420G>C (p.Ala474Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850050C>T | CA381492009 | PC | c.2785G>A (p.Ala929Thr) n.305G>A c.*794G>A (n.*794G>A) c.*1261G>A (n.*1261G>A) c.145G>A (p.Ala49Thr) c.1264G>A (p.Ala422Thr) c.1489G>A (p.Ala497Thr) c.1420G>A (p.Ala474Thr) | |
| 11 | g.66850051C>A | CA475501196 | PC | c.2784G>T (p.Arg928=) n.304G>T c.*793G>T (n.*793G>T) c.*1260G>T (n.*1260G>T) c.144G>T (p.Arg48=) c.1263G>T (p.Arg421=) c.1488G>T (p.Arg496=) c.1419G>T (p.Arg473=) | |
| 11 | g.66850051C>G | CA475501198 | PC | c.2784G>C (p.Arg928=) n.304G>C c.*793G>C (n.*793G>C) c.*1260G>C (n.*1260G>C) c.144G>C (p.Arg48=) c.1263G>C (p.Arg421=) c.1488G>C (p.Arg496=) c.1419G>C (p.Arg473=) | |
| 11 | g.66850051C>T | CA475501200 | PC | c.2784G>A (p.Arg928=) n.304G>A c.*793G>A (n.*793G>A) c.*1260G>A (n.*1260G>A) c.144G>A (p.Arg48=) c.1263G>A (p.Arg421=) c.1488G>A (p.Arg496=) c.1419G>A (p.Arg473=) | |
| 11 | g.66850052C>A | CA6130976 | PC | c.2783G>T (p.Arg928Leu) n.303G>T c.*792G>T (n.*792G>T) c.*1259G>T (n.*1259G>T) c.143G>T (p.Arg48Leu) c.1262G>T (p.Arg421Leu) c.1487G>T (p.Arg496Leu) c.1418G>T (p.Arg473Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850052C= | CA1979910187 | PC | c.2783G= (p.Arg928=) n.303G= c.*792G= (n.*792G=) c.*1259G= (n.*1259G=) c.143G= (p.Arg48=) c.1262G= (p.Arg421=) c.1487G= (p.Arg496=) c.1418G= (p.Arg473=) | |
| 11 | g.66850052C>G | CA381492011 | PC | c.2783G>C (p.Arg928Pro) n.303G>C c.*792G>C (n.*792G>C) c.*1259G>C (n.*1259G>C) c.143G>C (p.Arg48Pro) c.1262G>C (p.Arg421Pro) c.1487G>C (p.Arg496Pro) c.1418G>C (p.Arg473Pro) | |
| 11 | g.66850052C>T | CA6130975 | PC | c.2783G>A (p.Arg928Gln) n.303G>A c.*792G>A (n.*792G>A) c.*1259G>A (n.*1259G>A) c.143G>A (p.Arg48Gln) c.1262G>A (p.Arg421Gln) c.1487G>A (p.Arg496Gln) c.1418G>A (p.Arg473Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850053G>A | CA6130977 | PC | c.2782C>T (p.Arg928Trp) n.302C>T c.*791C>T (n.*791C>T) c.*1258C>T (n.*1258C>T) c.142C>T (p.Arg48Trp) c.1261C>T (p.Arg421Trp) c.1486C>T (p.Arg496Trp) c.1417C>T (p.Arg473Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850053G>C | CA381492014 | PC | c.2782C>G (p.Arg928Gly) n.302C>G c.*791C>G (n.*791C>G) c.*1258C>G (n.*1258C>G) c.142C>G (p.Arg48Gly) c.1261C>G (p.Arg421Gly) c.1486C>G (p.Arg496Gly) c.1417C>G (p.Arg473Gly) | |
| 11 | g.66850053G= | CA1979910200 | PC | c.2782C= (p.Arg928=) n.302C= c.*791C= (n.*791C=) c.*1258C= (n.*1258C=) c.142C= (p.Arg48=) c.1261C= (p.Arg421=) c.1486C= (p.Arg496=) c.1417C= (p.Arg473=) | |
| 11 | g.66850053G>T | CA475501202 | PC | c.2782C>A (p.Arg928=) n.302C>A c.*791C>A (n.*791C>A) c.*1258C>A (n.*1258C>A) c.142C>A (p.Arg48=) c.1261C>A (p.Arg421=) c.1486C>A (p.Arg496=) c.1417C>A (p.Arg473=) | |
| 11 | g.66850054G>A | CA475501205 | PC | c.2781C>T (p.Ser927=) n.301C>T c.*790C>T (n.*790C>T) c.*1257C>T (n.*1257C>T) c.141C>T (p.Ser47=) c.1260C>T (p.Ser420=) c.1485C>T (p.Ser495=) c.1416C>T (p.Ser472=) | |
| 11 | g.66850054G>C | CA381492016 | PC | c.2781C>G (p.Ser927Arg) n.301C>G c.*790C>G (n.*790C>G) c.*1257C>G (n.*1257C>G) c.141C>G (p.Ser47Arg) c.1260C>G (p.Ser420Arg) c.1485C>G (p.Ser495Arg) c.1416C>G (p.Ser472Arg) | |
| 11 | g.66850054G>T | CA381492017 | PC | c.2781C>A (p.Ser927Arg) n.301C>A c.*790C>A (n.*790C>A) c.*1257C>A (n.*1257C>A) c.141C>A (p.Ser47Arg) c.1260C>A (p.Ser420Arg) c.1485C>A (p.Ser495Arg) c.1416C>A (p.Ser472Arg) | |
| 11 | g.66850055C>A | CA381492022 | PC | c.2780G>T (p.Ser927Ile) n.300G>T c.*789G>T (n.*789G>T) c.*1256G>T (n.*1256G>T) c.140G>T (p.Ser47Ile) c.1259G>T (p.Ser420Ile) c.1484G>T (p.Ser495Ile) c.1415G>T (p.Ser472Ile) | |
| 11 | g.66850055C= | CA1979910208 | PC | c.2780G= (p.Ser927=) n.300G= c.*789G= (n.*789G=) c.*1256G= (n.*1256G=) c.140G= (p.Ser47=) c.1259G= (p.Ser420=) c.1484G= (p.Ser495=) c.1415G= (p.Ser472=) | |
| 11 | g.66850055C>G | CA381492019 | PC | c.2780G>C (p.Ser927Thr) n.300G>C c.*789G>C (n.*789G>C) c.*1256G>C (n.*1256G>C) c.140G>C (p.Ser47Thr) c.1259G>C (p.Ser420Thr) c.1484G>C (p.Ser495Thr) c.1415G>C (p.Ser472Thr) | dbSNP |
| 11 | g.66850055C>T | CA381492021 | PC | c.2780G>A (p.Ser927Asn) n.300G>A c.*789G>A (n.*789G>A) c.*1256G>A (n.*1256G>A) c.140G>A (p.Ser47Asn) c.1259G>A (p.Ser420Asn) c.1484G>A (p.Ser495Asn) c.1415G>A (p.Ser472Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850056T>A | CA381492024 | PC | c.2779A>T (p.Ser927Cys) n.299A>T c.*788A>T (n.*788A>T) c.*1255A>T (n.*1255A>T) c.139A>T (p.Ser47Cys) c.1258A>T (p.Ser420Cys) c.1483A>T (p.Ser495Cys) c.1414A>T (p.Ser472Cys) | |
| 11 | g.66850056T>C | CA6130978 | PC | c.2779A>G (p.Ser927Gly) n.299A>G c.*788A>G (n.*788A>G) c.*1255A>G (n.*1255A>G) c.139A>G (p.Ser47Gly) c.1258A>G (p.Ser420Gly) c.1483A>G (p.Ser495Gly) c.1414A>G (p.Ser472Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850056T>G | CA381492026 | PC | c.2779A>C (p.Ser927Arg) n.299A>C c.*788A>C (n.*788A>C) c.*1255A>C (n.*1255A>C) c.139A>C (p.Ser47Arg) c.1258A>C (p.Ser420Arg) c.1483A>C (p.Ser495Arg) c.1414A>C (p.Ser472Arg) | |
| 11 | g.66850056T= | CA1979910214 | PC | c.2779A= (p.Ser927=) n.299A= c.*788A= (n.*788A=) c.*1255A= (n.*1255A=) c.139A= (p.Ser47=) c.1258A= (p.Ser420=) c.1483A= (p.Ser495=) c.1414A= (p.Ser472=) | |
| 11 | g.66850057C>A | CA381492027 | PC | c.2778G>T (p.Leu926Phe) n.298G>T c.*787G>T (n.*787G>T) c.*1254G>T (n.*1254G>T) c.138G>T (p.Leu46Phe) c.1257G>T (p.Leu419Phe) c.1482G>T (p.Leu494Phe) c.1413G>T (p.Leu471Phe) | |
| 11 | g.66850057C>G | CA381492029 | PC | c.2778G>C (p.Leu926Phe) n.298G>C c.*787G>C (n.*787G>C) c.*1254G>C (n.*1254G>C) c.138G>C (p.Leu46Phe) c.1257G>C (p.Leu419Phe) c.1482G>C (p.Leu494Phe) c.1413G>C (p.Leu471Phe) | |
| 11 | g.66850057C>T | CA475501209 | PC | c.2778G>A (p.Leu926=) n.298G>A c.*787G>A (n.*787G>A) c.*1254G>A (n.*1254G>A) c.138G>A (p.Leu46=) c.1257G>A (p.Leu419=) c.1482G>A (p.Leu494=) c.1413G>A (p.Leu471=) | ClinVar |
| 11 | g.66850058A>C | CA381492031 | PC | c.2777T>G (p.Leu926Trp) n.297T>G c.*786T>G (n.*786T>G) c.*1253T>G (n.*1253T>G) c.137T>G (p.Leu46Trp) c.1256T>G (p.Leu419Trp) c.1481T>G (p.Leu494Trp) c.1412T>G (p.Leu471Trp) | gnomAD v4 |
| 11 | g.66850058A>G | CA381492032 | PC | c.2777T>C (p.Leu926Ser) n.297T>C c.*786T>C (n.*786T>C) c.*1253T>C (n.*1253T>C) c.137T>C (p.Leu46Ser) c.1256T>C (p.Leu419Ser) c.1481T>C (p.Leu494Ser) c.1412T>C (p.Leu471Ser) | gnomAD v4 |
| 11 | g.66850058A>T | CA381492033 | PC | c.2777T>A (p.Leu926Ter) n.297T>A c.*786T>A (n.*786T>A) c.*1253T>A (n.*1253T>A) c.137T>A (p.Leu46Ter) c.1256T>A (p.Leu419Ter) c.1481T>A (p.Leu494Ter) c.1412T>A (p.Leu471Ter) | |
| 11 | g.66850059A= | CA1979910217 | PC | c.2776T= (p.Leu926=) n.296T= c.*785T= (n.*785T=) c.*1252T= (n.*1252T=) c.136T= (p.Leu46=) c.1255T= (p.Leu419=) c.1480T= (p.Leu494=) c.1411T= (p.Leu471=) | |
| 11 | g.66850059A>C | CA381492035 | PC | c.2776T>G (p.Leu926Val) n.296T>G c.*785T>G (n.*785T>G) c.*1252T>G (n.*1252T>G) c.136T>G (p.Leu46Val) c.1255T>G (p.Leu419Val) c.1480T>G (p.Leu494Val) c.1411T>G (p.Leu471Val) | dbSNP gnomAD v4 |
| 11 | g.66850059A>G | CA224122369 | PC | c.2776T>C (p.Leu926=) n.296T>C c.*785T>C (n.*785T>C) c.*1252T>C (n.*1252T>C) c.136T>C (p.Leu46=) c.1255T>C (p.Leu419=) c.1480T>C (p.Leu494=) c.1411T>C (p.Leu471=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850059A>T | CA381492037 | PC | c.2776T>A (p.Leu926Met) n.296T>A c.*785T>A (n.*785T>A) c.*1252T>A (n.*1252T>A) c.136T>A (p.Leu46Met) c.1255T>A (p.Leu419Met) c.1480T>A (p.Leu494Met) c.1411T>A (p.Leu471Met) | |
| 11 | g.66850060T>A | CA475501212 | PC | c.2775A>T (p.Gly925=) n.295A>T c.*784A>T (n.*784A>T) c.*1251A>T (n.*1251A>T) c.135A>T (p.Gly45=) c.1254A>T (p.Gly418=) c.1479A>T (p.Gly493=) c.1410A>T (p.Gly470=) | gnomAD v4 |
| 11 | g.66850060T>C | CA475501213 | PC | c.2775A>G (p.Gly925=) n.295A>G c.*784A>G (n.*784A>G) c.*1251A>G (n.*1251A>G) c.135A>G (p.Gly45=) c.1254A>G (p.Gly418=) c.1479A>G (p.Gly493=) c.1410A>G (p.Gly470=) | |
| 11 | g.66850060T>G | CA475501214 | PC | c.2775A>C (p.Gly925=) n.295A>C c.*784A>C (n.*784A>C) c.*1251A>C (n.*1251A>C) c.135A>C (p.Gly45=) c.1254A>C (p.Gly418=) c.1479A>C (p.Gly493=) c.1410A>C (p.Gly470=) | |
| 11 | g.66850061C>A | CA381492040 | PC | c.2774G>T (p.Gly925Val) n.294G>T c.*783G>T (n.*783G>T) c.*1250G>T (n.*1250G>T) c.134G>T (p.Gly45Val) c.1253G>T (p.Gly418Val) c.1478G>T (p.Gly493Val) c.1409G>T (p.Gly470Val) | |
| 11 | g.66850061C= | CA1979910226 | PC | c.2774G= (p.Gly925=) n.294G= c.*783G= (n.*783G=) c.*1250G= (n.*1250G=) c.134G= (p.Gly45=) c.1253G= (p.Gly418=) c.1478G= (p.Gly493=) c.1409G= (p.Gly470=) | |
| 11 | g.66850061C>G | CA381492041 | PC | c.2774G>C (p.Gly925Ala) n.294G>C c.*783G>C (n.*783G>C) c.*1250G>C (n.*1250G>C) c.134G>C (p.Gly45Ala) c.1253G>C (p.Gly418Ala) c.1478G>C (p.Gly493Ala) c.1409G>C (p.Gly470Ala) | dbSNP |
| 11 | g.66850061C>T | CA381492038 | PC | c.2774G>A (p.Gly925Glu) n.294G>A c.*783G>A (n.*783G>A) c.*1250G>A (n.*1250G>A) c.134G>A (p.Gly45Glu) c.1253G>A (p.Gly418Glu) c.1478G>A (p.Gly493Glu) c.1409G>A (p.Gly470Glu) | |
| 11 | g.66850062C>A | CA381492043 | PC | c.2773G>T (p.Gly925Ter) n.293G>T c.*782G>T (n.*782G>T) c.*1249G>T (n.*1249G>T) c.133G>T (p.Gly45Ter) c.1252G>T (p.Gly418Ter) c.1477G>T (p.Gly493Ter) c.1408G>T (p.Gly470Ter) | COSMIC |
| 11 | g.66850062C>G | CA381492045 | PC | c.2773G>C (p.Gly925Arg) n.293G>C c.*782G>C (n.*782G>C) c.*1249G>C (n.*1249G>C) c.133G>C (p.Gly45Arg) c.1252G>C (p.Gly418Arg) c.1477G>C (p.Gly493Arg) c.1408G>C (p.Gly470Arg) | |
| 11 | g.66850062C>T | CA381492046 | PC | c.2773G>A (p.Gly925Arg) n.293G>A c.*782G>A (n.*782G>A) c.*1249G>A (n.*1249G>A) c.133G>A (p.Gly45Arg) c.1252G>A (p.Gly418Arg) c.1477G>A (p.Gly493Arg) c.1408G>A (p.Gly470Arg) | |
| 11 | g.66850063A>C | CA381492047 | PC | c.2772T>G (p.Asn924Lys) n.292T>G c.*781T>G (n.*781T>G) c.*1248T>G (n.*1248T>G) c.132T>G (p.Asn44Lys) c.1251T>G (p.Asn417Lys) c.1476T>G (p.Asn492Lys) c.1407T>G (p.Asn469Lys) | |
| 11 | g.66850063A>G | CA475501217 | PC | c.2772T>C (p.Asn924=) n.292T>C c.*781T>C (n.*781T>C) c.*1248T>C (n.*1248T>C) c.132T>C (p.Asn44=) c.1251T>C (p.Asn417=) c.1476T>C (p.Asn492=) c.1407T>C (p.Asn469=) | ClinVar |
| 11 | g.66850063A>T | CA381492048 | PC | c.2772T>A (p.Asn924Lys) n.292T>A c.*781T>A (n.*781T>A) c.*1248T>A (n.*1248T>A) c.132T>A (p.Asn44Lys) c.1251T>A (p.Asn417Lys) c.1476T>A (p.Asn492Lys) c.1407T>A (p.Asn469Lys) | |
| 11 | g.66850064T>A | CA381492053 | PC | c.2771A>T (p.Asn924Ile) n.291A>T c.*780A>T (n.*780A>T) c.*1247A>T (n.*1247A>T) c.131A>T (p.Asn44Ile) c.1250A>T (p.Asn417Ile) c.1475A>T (p.Asn492Ile) c.1406A>T (p.Asn469Ile) | |
| 11 | g.66850064T>C | CA381492050 | PC | c.2771A>G (p.Asn924Ser) n.291A>G c.*780A>G (n.*780A>G) c.*1247A>G (n.*1247A>G) c.131A>G (p.Asn44Ser) c.1250A>G (p.Asn417Ser) c.1475A>G (p.Asn492Ser) c.1406A>G (p.Asn469Ser) | gnomAD v4 |
| 11 | g.66850064T>G | CA381492052 | PC | c.2771A>C (p.Asn924Thr) n.291A>C c.*780A>C (n.*780A>C) c.*1247A>C (n.*1247A>C) c.131A>C (p.Asn44Thr) c.1250A>C (p.Asn417Thr) c.1475A>C (p.Asn492Thr) c.1406A>C (p.Asn469Thr) | |
| 11 | g.66850065T>A | CA381492055 | PC | c.2770A>T (p.Asn924Tyr) n.290A>T c.*779A>T (n.*779A>T) c.*1246A>T (n.*1246A>T) c.130A>T (p.Asn44Tyr) c.1249A>T (p.Asn417Tyr) c.1474A>T (p.Asn492Tyr) c.1405A>T (p.Asn469Tyr) | |
| 11 | g.66850065T>C | CA381492056 | PC | c.2770A>G (p.Asn924Asp) n.290A>G c.*779A>G (n.*779A>G) c.*1246A>G (n.*1246A>G) c.130A>G (p.Asn44Asp) c.1249A>G (p.Asn417Asp) c.1474A>G (p.Asn492Asp) c.1405A>G (p.Asn469Asp) | |
| 11 | g.66850065T>G | CA381492057 | PC | c.2770A>C (p.Asn924His) n.290A>C c.*779A>C (n.*779A>C) c.*1246A>C (n.*1246A>C) c.130A>C (p.Asn44His) c.1249A>C (p.Asn417His) c.1474A>C (p.Asn492His) c.1405A>C (p.Asn469His) | |
| 11 | g.66850066C>A | CA381492059 | PC | c.2769G>T (p.Gln923His) n.290-1G>T c.*778G>T (n.*778G>T) c.*1245G>T (n.*1245G>T) c.129G>T (p.Gln43His) c.1248G>T (p.Gln416His) c.1473G>T (p.Gln491His) c.1404G>T (p.Gln468His) | dbSNP |
| 11 | g.66850066C>G | CA381492061 | PC | c.2769G>C (p.Gln923His) n.290-1G>C c.*778G>C (n.*778G>C) c.*1245G>C (n.*1245G>C) c.129G>C (p.Gln43His) c.1248G>C (p.Gln416His) c.1473G>C (p.Gln491His) c.1404G>C (p.Gln468His) | gnomAD v4 |
| 11 | g.66850066C>T | CA475501219 | PC | c.2769G>A (p.Gln923=) n.290-1G>A c.*778G>A (n.*778G>A) c.*1245G>A (n.*1245G>A) c.129G>A (p.Gln43=) c.1248G>A (p.Gln416=) c.1473G>A (p.Gln491=) c.1404G>A (p.Gln468=) | gnomAD v4 |
| 11 | g.66850067T>A | CA381492063 | PC | c.2768A>T (p.Gln923Leu) n.290-2A>T c.*777A>T (n.*777A>T) c.*1244A>T (n.*1244A>T) c.128A>T (p.Gln43Leu) c.1247A>T (p.Gln416Leu) c.1472A>T (p.Gln491Leu) c.1403A>T (p.Gln468Leu) | |
| 11 | g.66850067T>C | CA381492065 | PC | c.2768A>G (p.Gln923Arg) n.290-2A>G c.*777A>G (n.*777A>G) c.*1244A>G (n.*1244A>G) c.128A>G (p.Gln43Arg) c.1247A>G (p.Gln416Arg) c.1472A>G (p.Gln491Arg) c.1403A>G (p.Gln468Arg) | |
| 11 | g.66850067T>G | CA381492064 | PC | c.2768A>C (p.Gln923Pro) n.290-2A>C c.*777A>C (n.*777A>C) c.*1244A>C (n.*1244A>C) c.128A>C (p.Gln43Pro) c.1247A>C (p.Gln416Pro) c.1472A>C (p.Gln491Pro) c.1403A>C (p.Gln468Pro) | |
| 11 | g.66850068G>A | CA381492067 | PC | c.2767C>T (p.Gln923Ter) n.290-3C>T c.*776C>T (n.*776C>T) c.*1243C>T (n.*1243C>T) c.127C>T (p.Gln43Ter) c.1246C>T (p.Gln416Ter) c.1471C>T (p.Gln491Ter) c.1402C>T (p.Gln468Ter) | |
| 11 | g.66850068G>C | CA381492069 | PC | c.2767C>G (p.Gln923Glu) n.290-3C>G c.*776C>G (n.*776C>G) c.*1243C>G (n.*1243C>G) c.127C>G (p.Gln43Glu) c.1246C>G (p.Gln416Glu) c.1471C>G (p.Gln491Glu) c.1402C>G (p.Gln468Glu) | dbSNP gnomAD v4 |
| 11 | g.66850068G= | CA1979910233 | PC | c.2767C= (p.Gln923=) n.290-3C= c.*776C= (n.*776C=) c.*1243C= (n.*1243C=) c.127C= (p.Gln43=) c.1246C= (p.Gln416=) c.1471C= (p.Gln491=) c.1402C= (p.Gln468=) | |
| 11 | g.66850068G>T | CA381492071 | PC | c.2767C>A (p.Gln923Lys) n.290-3C>A c.*776C>A (n.*776C>A) c.*1243C>A (n.*1243C>A) c.127C>A (p.Gln43Lys) c.1246C>A (p.Gln416Lys) c.1471C>A (p.Gln491Lys) c.1402C>A (p.Gln468Lys) | |
| 11 | g.66850069C>A | CA475501222 | PC | c.2766G>T (p.Val922=) n.290-4G>T c.*775G>T (n.*775G>T) c.*1242G>T (n.*1242G>T) c.126G>T (p.Val42=) c.1245G>T (p.Val415=) c.1470G>T (p.Val490=) c.1401G>T (p.Val467=) | |
| 11 | g.66850069C= | CA1979910243 | PC | c.2766G= (p.Val922=) n.290-4G= c.*775G= (n.*775G=) c.*1242G= (n.*1242G=) c.126G= (p.Val42=) c.1245G= (p.Val415=) c.1470G= (p.Val490=) c.1401G= (p.Val467=) | |
| 11 | g.66850069C>G | CA475501226 | PC | c.2766G>C (p.Val922=) n.290-4G>C c.*775G>C (n.*775G>C) c.*1242G>C (n.*1242G>C) c.126G>C (p.Val42=) c.1245G>C (p.Val415=) c.1470G>C (p.Val490=) c.1401G>C (p.Val467=) | |
| 11 | g.66850069C>T | CA475501224 | PC | c.2766G>A (p.Val922=) n.290-4G>A c.*775G>A (n.*775G>A) c.*1242G>A (n.*1242G>A) c.126G>A (p.Val42=) c.1245G>A (p.Val415=) c.1470G>A (p.Val490=) c.1401G>A (p.Val467=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850070A= | CA1979910250 | PC | c.2765T= (p.Val922=) n.290-5T= c.*774T= (n.*774T=) c.*1241T= (n.*1241T=) c.125T= (p.Val42=) c.1244T= (p.Val415=) c.1469T= (p.Val490=) c.1400T= (p.Val467=) | |
| 11 | g.66850070A>C | CA381492072 | PC | c.2765T>G (p.Val922Gly) n.290-5T>G c.*774T>G (n.*774T>G) c.*1241T>G (n.*1241T>G) c.125T>G (p.Val42Gly) c.1244T>G (p.Val415Gly) c.1469T>G (p.Val490Gly) c.1400T>G (p.Val467Gly) | |
| 11 | g.66850070A>G | CA381492073 | PC | c.2765T>C (p.Val922Ala) n.290-5T>C c.*774T>C (n.*774T>C) c.*1241T>C (n.*1241T>C) c.125T>C (p.Val42Ala) c.1244T>C (p.Val415Ala) c.1469T>C (p.Val490Ala) c.1400T>C (p.Val467Ala) | dbSNP |
| 11 | g.66850070A>T | CA381492074 | PC | c.2765T>A (p.Val922Glu) n.290-5T>A c.*774T>A (n.*774T>A) c.*1241T>A (n.*1241T>A) c.125T>A (p.Val42Glu) c.1244T>A (p.Val415Glu) c.1469T>A (p.Val490Glu) c.1400T>A (p.Val467Glu) | |
| 11 | g.66850071C>A | CA381492077 | PC | c.2764G>T (p.Val922Leu) n.290-6G>T c.*773G>T (n.*773G>T) c.*1240G>T (n.*1240G>T) c.124G>T (p.Val42Leu) c.1243G>T (p.Val415Leu) c.1468G>T (p.Val490Leu) c.1399G>T (p.Val467Leu) | dbSNP |
| 11 | g.66850071C= | CA1979910252 | PC | c.2764G= (p.Val922=) n.290-6G= c.*773G= (n.*773G=) c.*1240G= (n.*1240G=) c.124G= (p.Val42=) c.1243G= (p.Val415=) c.1468G= (p.Val490=) c.1399G= (p.Val467=) | |
| 11 | g.66850071C>G | CA381492078 | PC | c.2764G>C (p.Val922Leu) n.290-6G>C c.*773G>C (n.*773G>C) c.*1240G>C (n.*1240G>C) c.124G>C (p.Val42Leu) c.1243G>C (p.Val415Leu) c.1468G>C (p.Val490Leu) c.1399G>C (p.Val467Leu) | |
| 11 | g.66850071C>T | CA381492079 | PC | c.2764G>A (p.Val922Met) n.290-6G>A c.*773G>A (n.*773G>A) c.*1240G>A (n.*1240G>A) c.124G>A (p.Val42Met) c.1243G>A (p.Val415Met) c.1468G>A (p.Val490Met) c.1399G>A (p.Val467Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850072C>A | CA381492081 | PC | c.2763G>T (p.Met921Ile) n.290-7G>T c.*772G>T (n.*772G>T) c.*1239G>T (n.*1239G>T) c.123G>T (p.Met41Ile) c.1242G>T (p.Met414Ile) c.1467G>T (p.Met489Ile) c.1398G>T (p.Met466Ile) | |
| 11 | g.66850072C>G | CA381492083 | PC | c.2763G>C (p.Met921Ile) n.290-7G>C c.*772G>C (n.*772G>C) c.*1239G>C (n.*1239G>C) c.123G>C (p.Met41Ile) c.1242G>C (p.Met414Ile) c.1467G>C (p.Met489Ile) c.1398G>C (p.Met466Ile) | |
| 11 | g.66850072C>T | CA381492084 | PC | c.2763G>A (p.Met921Ile) n.290-7G>A c.*772G>A (n.*772G>A) c.*1239G>A (n.*1239G>A) c.123G>A (p.Met41Ile) c.1242G>A (p.Met414Ile) c.1467G>A (p.Met489Ile) c.1398G>A (p.Met466Ile) | |
| 11 | g.66850073A>C | CA381492087 | PC | c.2762T>G (p.Met921Arg) n.290-8T>G c.*771T>G (n.*771T>G) c.*1238T>G (n.*1238T>G) c.122T>G (p.Met41Arg) c.1241T>G (p.Met414Arg) c.1466T>G (p.Met489Arg) c.1397T>G (p.Met466Arg) | |
| 11 | g.66850073A>G | CA381492088 | PC | c.2762T>C (p.Met921Thr) n.290-8T>C c.*771T>C (n.*771T>C) c.*1238T>C (n.*1238T>C) c.122T>C (p.Met41Thr) c.1241T>C (p.Met414Thr) c.1466T>C (p.Met489Thr) c.1397T>C (p.Met466Thr) | |
| 11 | g.66850073A>T | CA381492086 | PC | c.2762T>A (p.Met921Lys) n.290-8T>A c.*771T>A (n.*771T>A) c.*1238T>A (n.*1238T>A) c.122T>A (p.Met41Lys) c.1241T>A (p.Met414Lys) c.1466T>A (p.Met489Lys) c.1397T>A (p.Met466Lys) | |
| 11 | g.66850074T>A | CA381492092 | PC | c.2761A>T (p.Met921Leu) n.290-9A>T c.*770A>T (n.*770A>T) c.*1237A>T (n.*1237A>T) c.121A>T (p.Met41Leu) c.1240A>T (p.Met414Leu) c.1465A>T (p.Met489Leu) c.1396A>T (p.Met466Leu) | |
| 11 | g.66850074T>C | CA381492090 | PC | c.2761A>G (p.Met921Val) n.290-9A>G c.*770A>G (n.*770A>G) c.*1237A>G (n.*1237A>G) c.121A>G (p.Met41Val) c.1240A>G (p.Met414Val) c.1465A>G (p.Met489Val) c.1396A>G (p.Met466Val) | |
| 11 | g.66850074T>G | CA381492094 | PC | c.2761A>C (p.Met921Leu) n.290-9A>C c.*770A>C (n.*770A>C) c.*1237A>C (n.*1237A>C) c.121A>C (p.Met41Leu) c.1240A>C (p.Met414Leu) c.1465A>C (p.Met489Leu) c.1396A>C (p.Met466Leu) | |
| 11 | g.66850075A= | CA1979910263 | PC | c.2760T= (p.Phe920=) n.290-10T= c.*769T= (n.*769T=) c.*1236T= (n.*1236T=) c.120T= (p.Phe40=) c.1239T= (p.Phe413=) c.1464T= (p.Phe488=) c.1395T= (p.Phe465=) | |
| 11 | g.66850075A>C | CA381492095 | PC | c.2760T>G (p.Phe920Leu) n.290-10T>G c.*769T>G (n.*769T>G) c.*1236T>G (n.*1236T>G) c.120T>G (p.Phe40Leu) c.1239T>G (p.Phe413Leu) c.1464T>G (p.Phe488Leu) c.1395T>G (p.Phe465Leu) | |
| 11 | g.66850075A>G | CA475501234 | PC | c.2760T>C (p.Phe920=) n.290-10T>C c.*769T>C (n.*769T>C) c.*1236T>C (n.*1236T>C) c.120T>C (p.Phe40=) c.1239T>C (p.Phe413=) c.1464T>C (p.Phe488=) c.1395T>C (p.Phe465=) | dbSNP |
| 11 | g.66850075A>T | CA381492096 | PC | c.2760T>A (p.Phe920Leu) n.290-10T>A c.*769T>A (n.*769T>A) c.*1236T>A (n.*1236T>A) c.120T>A (p.Phe40Leu) c.1239T>A (p.Phe413Leu) c.1464T>A (p.Phe488Leu) c.1395T>A (p.Phe465Leu) | |
| 11 | g.66850076A>C | CA381492097 | PC | c.2759T>G (p.Phe920Cys) n.290-11T>G c.*768T>G (n.*768T>G) c.*1235T>G (n.*1235T>G) c.119T>G (p.Phe40Cys) c.1238T>G (p.Phe413Cys) c.1463T>G (p.Phe488Cys) c.1394T>G (p.Phe465Cys) | gnomAD v4 |
| 11 | g.66850076A>G | CA381492098 | PC | c.2759T>C (p.Phe920Ser) n.290-11T>C c.*768T>C (n.*768T>C) c.*1235T>C (n.*1235T>C) c.119T>C (p.Phe40Ser) c.1238T>C (p.Phe413Ser) c.1463T>C (p.Phe488Ser) c.1394T>C (p.Phe465Ser) | |
| 11 | g.66850076A>T | CA381492099 | PC | c.2759T>A (p.Phe920Tyr) n.290-11T>A c.*768T>A (n.*768T>A) c.*1235T>A (n.*1235T>A) c.119T>A (p.Phe40Tyr) c.1238T>A (p.Phe413Tyr) c.1463T>A (p.Phe488Tyr) c.1394T>A (p.Phe465Tyr) | |
| 11 | g.66850077A>C | CA381492101 | PC | c.2758T>G (p.Phe920Val) n.290-12T>G c.*767T>G (n.*767T>G) c.*1234T>G (n.*1234T>G) c.118T>G (p.Phe40Val) c.1237T>G (p.Phe413Val) c.1462T>G (p.Phe488Val) c.1393T>G (p.Phe465Val) | |
| 11 | g.66850077A>G | CA381492102 | PC | c.2758T>C (p.Phe920Leu) n.290-12T>C c.*767T>C (n.*767T>C) c.*1234T>C (n.*1234T>C) c.118T>C (p.Phe40Leu) c.1237T>C (p.Phe413Leu) c.1462T>C (p.Phe488Leu) c.1393T>C (p.Phe465Leu) | |
| 11 | g.66850077A>T | CA381492103 | PC | c.2758T>A (p.Phe920Ile) n.290-12T>A c.*767T>A (n.*767T>A) c.*1234T>A (n.*1234T>A) c.118T>A (p.Phe40Ile) c.1237T>A (p.Phe413Ile) c.1462T>A (p.Phe488Ile) c.1393T>A (p.Phe465Ile) | |
| 11 | g.66850078C>A | CA381492104 | PC | c.2757G>T (p.Gln919His) n.290-13G>T c.*766G>T (n.*766G>T) c.*1233G>T (n.*1233G>T) c.117G>T (p.Gln39His) c.1236G>T (p.Gln412His) c.1461G>T (p.Gln487His) c.1392G>T (p.Gln464His) | gnomAD v4 |
| 11 | g.66850078C>G | CA381492106 | PC | c.2757G>C (p.Gln919His) n.290-13G>C c.*766G>C (n.*766G>C) c.*1233G>C (n.*1233G>C) c.117G>C (p.Gln39His) c.1236G>C (p.Gln412His) c.1461G>C (p.Gln487His) c.1392G>C (p.Gln464His) | |
| 11 | g.66850078C>T | CA475501238 | PC | c.2757G>A (p.Gln919=) n.290-13G>A c.*766G>A (n.*766G>A) c.*1233G>A (n.*1233G>A) c.117G>A (p.Gln39=) c.1236G>A (p.Gln412=) c.1461G>A (p.Gln487=) c.1392G>A (p.Gln464=) | |
| 11 | g.66850079T>A | CA381492108 | PC | c.2756A>T (p.Gln919Leu) n.290-14A>T c.*765A>T (n.*765A>T) c.*1232A>T (n.*1232A>T) c.116A>T (p.Gln39Leu) c.1235A>T (p.Gln412Leu) c.1460A>T (p.Gln487Leu) c.1391A>T (p.Gln464Leu) | |
| 11 | g.66850079T>C | CA381492110 | PC | c.2756A>G (p.Gln919Arg) n.290-14A>G c.*765A>G (n.*765A>G) c.*1232A>G (n.*1232A>G) c.116A>G (p.Gln39Arg) c.1235A>G (p.Gln412Arg) c.1460A>G (p.Gln487Arg) c.1391A>G (p.Gln464Arg) | |
| 11 | g.66850079T>G | CA381492111 | PC | c.2756A>C (p.Gln919Pro) n.290-14A>C c.*765A>C (n.*765A>C) c.*1232A>C (n.*1232A>C) c.116A>C (p.Gln39Pro) c.1235A>C (p.Gln412Pro) c.1460A>C (p.Gln487Pro) c.1391A>C (p.Gln464Pro) | |
| 11 | g.66850080G>A | CA381492112 | PC | c.2755C>T (p.Gln919Ter) n.290-15C>T c.*764C>T (n.*764C>T) c.*1231C>T (n.*1231C>T) c.115C>T (p.Gln39Ter) c.1234C>T (p.Gln412Ter) c.1459C>T (p.Gln487Ter) c.1390C>T (p.Gln464Ter) | |
| 11 | g.66850080G>C | CA381492116 | PC | c.2755C>G (p.Gln919Glu) n.290-15C>G c.*764C>G (n.*764C>G) c.*1231C>G (n.*1231C>G) c.115C>G (p.Gln39Glu) c.1234C>G (p.Gln412Glu) c.1459C>G (p.Gln487Glu) c.1390C>G (p.Gln464Glu) | |
| 11 | g.66850080G= | CA1979910267 | PC | c.2755C= (p.Gln919=) n.290-15C= c.*764C= (n.*764C=) c.*1231C= (n.*1231C=) c.115C= (p.Gln39=) c.1234C= (p.Gln412=) c.1459C= (p.Gln487=) c.1390C= (p.Gln464=) | |
| 11 | g.66850080G>T | CA381492114 | PC | c.2755C>A (p.Gln919Lys) n.290-15C>A c.*764C>A (n.*764C>A) c.*1231C>A (n.*1231C>A) c.115C>A (p.Gln39Lys) c.1234C>A (p.Gln412Lys) c.1459C>A (p.Gln487Lys) c.1390C>A (p.Gln464Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850081G>A | CA6130979 | PC | c.2754C>T (p.Ala918=) n.290-16C>T c.*763C>T (n.*763C>T) c.*1230C>T (n.*1230C>T) c.114C>T (p.Ala38=) c.1233C>T (p.Ala411=) c.1458C>T (p.Ala486=) c.1389C>T (p.Ala463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850081G>C | CA475501240 | PC | c.2754C>G (p.Ala918=) n.290-16C>G c.*763C>G (n.*763C>G) c.*1230C>G (n.*1230C>G) c.114C>G (p.Ala38=) c.1233C>G (p.Ala411=) c.1458C>G (p.Ala486=) c.1389C>G (p.Ala463=) | |
| 11 | g.66850081G= | CA1979910270 | PC | c.2754C= (p.Ala918=) n.290-16C= c.*763C= (n.*763C=) c.*1230C= (n.*1230C=) c.114C= (p.Ala38=) c.1233C= (p.Ala411=) c.1458C= (p.Ala486=) c.1389C= (p.Ala463=) | |
| 11 | g.66850081G>T | CA475501241 | PC | c.2754C>A (p.Ala918=) n.290-16C>A c.*763C>A (n.*763C>A) c.*1230C>A (n.*1230C>A) c.114C>A (p.Ala38=) c.1233C>A (p.Ala411=) c.1458C>A (p.Ala486=) c.1389C>A (p.Ala463=) | |
| 11 | g.66850082G>A | CA381492118 | PC | c.2753C>T (p.Ala918Val) n.290-17C>T c.*762C>T (n.*762C>T) c.*1229C>T (n.*1229C>T) c.113C>T (p.Ala38Val) c.1232C>T (p.Ala411Val) c.1457C>T (p.Ala486Val) c.1388C>T (p.Ala463Val) | |
| 11 | g.66850082G>C | CA381492119 | PC | c.2753C>G (p.Ala918Gly) n.290-17C>G c.*762C>G (n.*762C>G) c.*1229C>G (n.*1229C>G) c.113C>G (p.Ala38Gly) c.1232C>G (p.Ala411Gly) c.1457C>G (p.Ala486Gly) c.1388C>G (p.Ala463Gly) | |
| 11 | g.66850082G>T | CA381492120 | PC | c.2753C>A (p.Ala918Asp) n.290-17C>A c.*762C>A (n.*762C>A) c.*1229C>A (n.*1229C>A) c.113C>A (p.Ala38Asp) c.1232C>A (p.Ala411Asp) c.1457C>A (p.Ala486Asp) c.1388C>A (p.Ala463Asp) | |
| 11 | g.66850088_66850150del | CA2792479680 | PC | c.2719-28_2753del n.290-79_290-17del c.*728-28_*762del c.*1195-28_*1229del c.79-28_113del c.1198-28_1232del c.1423-28_1457del c.1354-28_1388del | |
| 11 | g.66850083C>A | CA381492121 | PC | c.2752G>T (p.Ala918Ser) n.290-18G>T c.*761G>T (n.*761G>T) c.*1228G>T (n.*1228G>T) c.112G>T (p.Ala38Ser) c.1231G>T (p.Ala411Ser) c.1456G>T (p.Ala486Ser) c.1387G>T (p.Ala463Ser) | |
| 11 | g.66850083C>G | CA381492122 | PC | c.2752G>C (p.Ala918Pro) n.290-18G>C c.*761G>C (n.*761G>C) c.*1228G>C (n.*1228G>C) c.112G>C (p.Ala38Pro) c.1231G>C (p.Ala411Pro) c.1456G>C (p.Ala486Pro) c.1387G>C (p.Ala463Pro) | |
| 11 | g.66850083C>T | CA381492123 | PC | c.2752G>A (p.Ala918Thr) n.290-18G>A c.*761G>A (n.*761G>A) c.*1228G>A (n.*1228G>A) c.112G>A (p.Ala38Thr) c.1231G>A (p.Ala411Thr) c.1456G>A (p.Ala486Thr) c.1387G>A (p.Ala463Thr) | |
| 11 | g.66850084C>A | CA475501245 | PC | c.2751G>T (p.Leu917=) n.290-19G>T c.*760G>T (n.*760G>T) c.*1227G>T (n.*1227G>T) c.111G>T (p.Leu37=) c.1230G>T (p.Leu410=) c.1455G>T (p.Leu485=) c.1386G>T (p.Leu462=) | |
| 11 | g.66850084C>G | CA475501243 | PC | c.2751G>C (p.Leu917=) n.290-19G>C c.*760G>C (n.*760G>C) c.*1227G>C (n.*1227G>C) c.111G>C (p.Leu37=) c.1230G>C (p.Leu410=) c.1455G>C (p.Leu485=) c.1386G>C (p.Leu462=) | |
| 11 | g.66850084C>T | CA475501244 | PC | c.2751G>A (p.Leu917=) n.290-19G>A c.*760G>A (n.*760G>A) c.*1227G>A (n.*1227G>A) c.111G>A (p.Leu37=) c.1230G>A (p.Leu410=) c.1455G>A (p.Leu485=) c.1386G>A (p.Leu462=) |