Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.4933978_4934005delinsCGCCACAAGCCCGACCATCCTGGTGTCT | CA2244625907 | CHRNE,GP1BA | c.1374_1401delinsCGCCACAAGCCCGACCATCCTGGTGTCT (p.Ile458=) c.-888+337_-888+364delinsAGACACCAGGATGGTCGGGCTTGTGGCG (n.-888+337_-888+364delinsAGACACCAGGATGGTCGGGCTTGTGGCG) c.1296_1323delinsCGCCACAAGCCCGACCATCCTGGTGTCT (p.Ile432=) | |
17 | g.4933989_4934015del | CA624856163 | CHRNE,GP1BA | c.1385_1411del (p.Pro462_Ser470del) c.-888+337_-888+363del (n.-888+337_-888+363del) c.1307_1333del (p.Pro436_Ser444del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4933999G>A | CA497678056 | CHRNE,GP1BA | c.1395G>A (p.Leu465=) c.-888+343C>T (n.-888+343C>T) c.1317G>A (p.Leu439=) | |
17 | g.4933999G>C | CA497678052 | CHRNE,GP1BA | c.1395G>C (p.Leu465=) c.-888+343C>G (n.-888+343C>G) c.1317G>C (p.Leu439=) | |
17 | g.4933999G>T | CA497678053 | CHRNE,GP1BA | c.1395G>T (p.Leu465=) c.-888+343C>A (n.-888+343C>A) c.1317G>T (p.Leu439=) | |
17 | g.4934000G>A | CA397321756 | CHRNE,GP1BA | c.1396G>A (p.Val466Met) c.-888+342C>T (n.-888+342C>T) c.1318G>A (p.Val440Met) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4934000G>C | CA397321758 | CHRNE,GP1BA | c.1396G>C (p.Val466Leu) c.-888+342C>G (n.-888+342C>G) c.1318G>C (p.Val440Leu) | |
17 | g.4934000G= | CA2244625919 | CHRNE,GP1BA | c.1396G= (p.Val466=) c.-888+342C= (n.-888+342C=) c.1318G= (p.Val440=) | |
17 | g.4934000G>T | CA397321759 | CHRNE,GP1BA | c.1396G>T (p.Val466Leu) c.-888+342C>A (n.-888+342C>A) c.1318G>T (p.Val440Leu) | |
17 | g.4934001T>A | CA397321761 | CHRNE,GP1BA | c.1397T>A (p.Val466Glu) c.-888+341A>T (n.-888+341A>T) c.1319T>A (p.Val440Glu) | |
17 | g.4934001T>C | CA8314991 | CHRNE,GP1BA | c.1397T>C (p.Val466Ala) c.-888+341A>G (n.-888+341A>G) c.1319T>C (p.Val440Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934001T>G | CA397321763 | CHRNE,GP1BA | c.1397T>G (p.Val466Gly) c.-888+341A>C (n.-888+341A>C) c.1319T>G (p.Val440Gly) | |
17 | g.4934001T= | CA2244625920 | CHRNE,GP1BA | c.1397T= (p.Val466=) c.-888+341A= (n.-888+341A=) c.1319T= (p.Val440=) | |
17 | g.4934002G>A | CA497678065 | CHRNE,GP1BA | c.1398G>A (p.Val466=) c.-888+340C>T (n.-888+340C>T) c.1320G>A (p.Val440=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934002G>C | CA497678066 | CHRNE,GP1BA | c.1398G>C (p.Val466=) c.-888+340C>G (n.-888+340C>G) c.1320G>C (p.Val440=) | gnomAD v4 |
17 | g.4934002G= | CA2244625921 | CHRNE,GP1BA | c.1398G= (p.Val466=) c.-888+340C= (n.-888+340C=) c.1320G= (p.Val440=) | |
17 | g.4934002G>T | CA497678069 | CHRNE,GP1BA | c.1398G>T (p.Val466=) c.-888+340C>A (n.-888+340C>A) c.1320G>T (p.Val440=) | |
17 | g.4934003T>A | CA397321765 | CHRNE,GP1BA | c.1399T>A (p.Ser467Thr) c.-888+339A>T (n.-888+339A>T) c.1321T>A (p.Ser441Thr) | |
17 | g.4934003T>C | CA397321766 | CHRNE,GP1BA | c.1399T>C (p.Ser467Pro) c.-888+339A>G (n.-888+339A>G) c.1321T>C (p.Ser441Pro) | |
17 | g.4934003T>G | CA397321768 | CHRNE,GP1BA | c.1399T>G (p.Ser467Ala) c.-888+339A>C (n.-888+339A>C) c.1321T>G (p.Ser441Ala) | |
17 | g.4934004C>A | CA397321770 | CHRNE,GP1BA | c.1400C>A (p.Ser467Tyr) c.-888+338G>T (n.-888+338G>T) c.1322C>A (p.Ser441Tyr) | |
17 | g.4934004C>G | CA397321772 | CHRNE,GP1BA | c.1400C>G (p.Ser467Cys) c.-888+338G>C (n.-888+338G>C) c.1322C>G (p.Ser441Cys) | |
17 | g.4934004C>T | CA397321769 | CHRNE,GP1BA | c.1400C>T (p.Ser467Phe) c.-888+338G>A (n.-888+338G>A) c.1322C>T (p.Ser441Phe) | |
17 | g.4934005T>A | CA497678072 | CHRNE,GP1BA | c.1401T>A (p.Ser467=) c.-888+337A>T (n.-888+337A>T) c.1323T>A (p.Ser441=) | dbSNP |
17 | g.4934005T>C | CA497678074 | CHRNE,GP1BA | c.1401T>C (p.Ser467=) c.-888+337A>G (n.-888+337A>G) c.1323T>C (p.Ser441=) | |
17 | g.4934005T>G | CA497678077 | CHRNE,GP1BA | c.1401T>G (p.Ser467=) c.-888+337A>C (n.-888+337A>C) c.1323T>G (p.Ser441=) | |
17 | g.4934005T= | CA2244625922 | CHRNE,GP1BA | c.1401T= (p.Ser467=) c.-888+337A= (n.-888+337A=) c.1323T= (p.Ser441=) | |
17 | g.4934006G>A | CA397321774 | CHRNE,GP1BA | c.1402G>A (p.Ala468Thr) c.-888+336C>T (n.-888+336C>T) c.1324G>A (p.Ala442Thr) | |
17 | g.4934006G>C | CA397321776 | CHRNE,GP1BA | c.1402G>C (p.Ala468Pro) c.-888+336C>G (n.-888+336C>G) c.1324G>C (p.Ala442Pro) | |
17 | g.4934006G>T | CA397321777 | CHRNE,GP1BA | c.1402G>T (p.Ala468Ser) c.-888+336C>A (n.-888+336C>A) c.1324G>T (p.Ala442Ser) | |
17 | g.4934007C>A | CA397321778 | CHRNE,GP1BA | c.1403C>A (p.Ala468Asp) c.-888+335G>T (n.-888+335G>T) c.1325C>A (p.Ala442Asp) | |
17 | g.4934007C>G | CA397321779 | CHRNE,GP1BA | c.1403C>G (p.Ala468Gly) c.-888+335G>C (n.-888+335G>C) c.1325C>G (p.Ala442Gly) | |
17 | g.4934007C>T | CA397321781 | CHRNE,GP1BA | c.1403C>T (p.Ala468Val) c.-888+335G>A (n.-888+335G>A) c.1325C>T (p.Ala442Val) | |
17 | g.4934008C>A | CA497678084 | CHRNE,GP1BA | c.1404C>A (p.Ala468=) c.-888+334G>T (n.-888+334G>T) c.1326C>A (p.Ala442=) | |
17 | g.4934008C>G | CA497678085 | CHRNE,GP1BA | c.1404C>G (p.Ala468=) c.-888+334G>C (n.-888+334G>C) c.1326C>G (p.Ala442=) | |
17 | g.4934008C>T | CA497678086 | CHRNE,GP1BA | c.1404C>T (p.Ala468=) c.-888+334G>A (n.-888+334G>A) c.1326C>T (p.Ala442=) | |
17 | g.4934009A>C | CA397321783 | CHRNE,GP1BA | c.1405A>C (p.Thr469Pro) c.-888+333T>G (n.-888+333T>G) c.1327A>C (p.Thr443Pro) | |
17 | g.4934009A>G | CA397321785 | CHRNE,GP1BA | c.1405A>G (p.Thr469Ala) c.-888+333T>C (n.-888+333T>C) c.1327A>G (p.Thr443Ala) | |
17 | g.4934009A>T | CA397321786 | CHRNE,GP1BA | c.1405A>T (p.Thr469Ser) c.-888+333T>A (n.-888+333T>A) c.1327A>T (p.Thr443Ser) | |
17 | g.4934010C>A | CA397321788 | CHRNE,GP1BA | c.1406C>A (p.Thr469Lys) c.-888+332G>T (n.-888+332G>T) c.1328C>A (p.Thr443Lys) | |
17 | g.4934010C>G | CA397321789 | CHRNE,GP1BA | c.1406C>G (p.Thr469Arg) c.-888+332G>C (n.-888+332G>C) c.1328C>G (p.Thr443Arg) | |
17 | g.4934010C>T | CA397321791 | CHRNE,GP1BA | c.1406C>T (p.Thr469Ile) c.-888+332G>A (n.-888+332G>A) c.1328C>T (p.Thr443Ile) | ClinVar gnomAD v4 |
17 | g.4934011A= | CA2244625923 | CHRNE,GP1BA | c.1407A= (p.Thr469=) c.-888+331T= (n.-888+331T=) c.1329A= (p.Thr443=) | |
17 | g.4934011A>C | CA497678091 | CHRNE,GP1BA | c.1407A>C (p.Thr469=) c.-888+331T>G (n.-888+331T>G) c.1329A>C (p.Thr443=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934011A>G | CA497678092 | CHRNE,GP1BA | c.1407A>G (p.Thr469=) c.-888+331T>C (n.-888+331T>C) c.1329A>G (p.Thr443=) | |
17 | g.4934011A>T | CA497678093 | CHRNE,GP1BA | c.1407A>T (p.Thr469=) c.-888+331T>A (n.-888+331T>A) c.1329A>T (p.Thr443=) | |
17 | g.4934012del | CA2580613962 | CHRNE,GP1BA | c.1408del (p.Ser470AlafsTer2) c.-888+331del (n.-888+331del) c.1330del (p.Ser444AlafsTer2) | ClinVar |
17 | g.4934012A>C | CA397321794 | CHRNE,GP1BA | c.1408A>C (p.Ser470Arg) c.-888+330T>G (n.-888+330T>G) c.1330A>C (p.Ser444Arg) | |
17 | g.4934012A>G | CA397321795 | CHRNE,GP1BA | c.1408A>G (p.Ser470Gly) c.-888+330T>C (n.-888+330T>C) c.1330A>G (p.Ser444Gly) | |
17 | g.4934012A>T | CA397321793 | CHRNE,GP1BA | c.1408A>T (p.Ser470Cys) c.-888+330T>A (n.-888+330T>A) c.1330A>T (p.Ser444Cys) | |
17 | g.4934013G>A | CA397321797 | CHRNE,GP1BA | c.1409G>A (p.Ser470Asn) c.-888+329C>T (n.-888+329C>T) c.1331G>A (p.Ser444Asn) | gnomAD v4 COSMIC |
17 | g.4934013G>C | CA397321798 | CHRNE,GP1BA | c.1409G>C (p.Ser470Thr) c.-888+329C>G (n.-888+329C>G) c.1331G>C (p.Ser444Thr) | dbSNP |
17 | g.4934013G= | CA2244625924 | CHRNE,GP1BA | c.1409G= (p.Ser470=) c.-888+329C= (n.-888+329C=) c.1331G= (p.Ser444=) | |
17 | g.4934013G>T | CA397321800 | CHRNE,GP1BA | c.1409G>T (p.Ser470Ile) c.-888+329C>A (n.-888+329C>A) c.1331G>T (p.Ser444Ile) | |
17 | g.4934014C>A | CA397321801 | CHRNE,GP1BA | c.1410C>A (p.Ser470Arg) c.-888+328G>T (n.-888+328G>T) c.1332C>A (p.Ser444Arg) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934014C= | CA2244625925 | CHRNE,GP1BA | c.1410C= (p.Ser470=) c.-888+328G= (n.-888+328G=) c.1332C= (p.Ser444=) | |
17 | g.4934014C>G | CA397321802 | CHRNE,GP1BA | c.1410C>G (p.Ser470Arg) c.-888+328G>C (n.-888+328G>C) c.1332C>G (p.Ser444Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934014C>T | CA497678104 | CHRNE,GP1BA | c.1410C>T (p.Ser470=) c.-888+328G>A (n.-888+328G>A) c.1332C>T (p.Ser444=) | |
17 | g.4934015C>A | CA397321806 | CHRNE,GP1BA | c.1411C>A (p.Leu471Met) c.-888+327G>T (n.-888+327G>T) c.1333C>A (p.Leu445Met) | |
17 | g.4934015C>G | CA397321804 | CHRNE,GP1BA | c.1411C>G (p.Leu471Val) c.-888+327G>C (n.-888+327G>C) c.1333C>G (p.Leu445Val) | |
17 | g.4934015C>T | CA497678105 | CHRNE,GP1BA | c.1411C>T (p.Leu471=) c.-888+327G>A (n.-888+327G>A) c.1333C>T (p.Leu445=) | |
17 | g.4934016T>A | CA397321807 | CHRNE,GP1BA | c.1412T>A (p.Leu471Gln) c.-888+326A>T (n.-888+326A>T) c.1334T>A (p.Leu445Gln) | |
17 | g.4934016T>C | CA397321808 | CHRNE,GP1BA | c.1412T>C (p.Leu471Pro) c.-888+326A>G (n.-888+326A>G) c.1334T>C (p.Leu445Pro) | |
17 | g.4934016T>G | CA397321809 | CHRNE,GP1BA | c.1412T>G (p.Leu471Arg) c.-888+326A>C (n.-888+326A>C) c.1334T>G (p.Leu445Arg) | |
17 | g.4934017G>A | CA497678110 | CHRNE,GP1BA | c.1413G>A (p.Leu471=) c.-888+325C>T (n.-888+325C>T) c.1335G>A (p.Leu445=) | |
17 | g.4934017G>C | CA497678112 | CHRNE,GP1BA | c.1413G>C (p.Leu471=) c.-888+325C>G (n.-888+325C>G) c.1335G>C (p.Leu445=) | |
17 | g.4934017G>T | CA497678114 | CHRNE,GP1BA | c.1413G>T (p.Leu471=) c.-888+325C>A (n.-888+325C>A) c.1335G>T (p.Leu445=) | |
17 | g.4934018A= | CA2244625926 | CHRNE,GP1BA | c.1414A= (p.Ile472=) c.-888+324T= (n.-888+324T=) c.1336A= (p.Ile446=) | |
17 | g.4934018A>C | CA8314992 | CHRNE,GP1BA | c.1414A>C (p.Ile472Leu) c.-888+324T>G (n.-888+324T>G) c.1336A>C (p.Ile446Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934018A>G | CA397321810 | CHRNE,GP1BA | c.1414A>G (p.Ile472Val) c.-888+324T>C (n.-888+324T>C) c.1336A>G (p.Ile446Val) | |
17 | g.4934018A>T | CA397321811 | CHRNE,GP1BA | c.1414A>T (p.Ile472Phe) c.-888+324T>A (n.-888+324T>A) c.1336A>T (p.Ile446Phe) | |
17 | g.4934019T>A | CA397321816 | CHRNE,GP1BA | c.1415T>A (p.Ile472Asn) c.-888+323A>T (n.-888+323A>T) c.1337T>A (p.Ile446Asn) | |
17 | g.4934019T>C | CA397321814 | CHRNE,GP1BA | c.1415T>C (p.Ile472Thr) c.-888+323A>G (n.-888+323A>G) c.1337T>C (p.Ile446Thr) | |
17 | g.4934019T>G | CA397321813 | CHRNE,GP1BA | c.1415T>G (p.Ile472Ser) c.-888+323A>C (n.-888+323A>C) c.1337T>G (p.Ile446Ser) | |
17 | g.4934020C>A | CA497678122 | CHRNE,GP1BA | c.1416C>A (p.Ile472=) c.-888+322G>T (n.-888+322G>T) c.1338C>A (p.Ile446=) | dbSNP |
17 | g.4934020C>G | CA397321818 | CHRNE,GP1BA | c.1416C>G (p.Ile472Met) c.-888+322G>C (n.-888+322G>C) c.1338C>G (p.Ile446Met) | |
17 | g.4934020C>T | CA497678120 | CHRNE,GP1BA | c.1416C>T (p.Ile472=) c.-888+322G>A (n.-888+322G>A) c.1338C>T (p.Ile446=) | |
17 | g.4934021A= | CA2244625927 | CHRNE,GP1BA | c.1417A= (p.Thr473=) c.-888+321T= (n.-888+321T=) c.1339A= (p.Thr447=) | |
17 | g.4934021A>C | CA397321820 | CHRNE,GP1BA | c.1417A>C (p.Thr473Pro) c.-888+321T>G (n.-888+321T>G) c.1339A>C (p.Thr447Pro) | |
17 | g.4934021A>G | CA8314993 | CHRNE,GP1BA | c.1417A>G (p.Thr473Ala) c.-888+321T>C (n.-888+321T>C) c.1339A>G (p.Thr447Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934021A>T | CA397321822 | CHRNE,GP1BA | c.1417A>T (p.Thr473Ser) c.-888+321T>A (n.-888+321T>A) c.1339A>T (p.Thr447Ser) | gnomAD v4 |
17 | g.4934022C>A | CA397321824 | CHRNE,GP1BA | c.1418C>A (p.Thr473Asn) c.-888+320G>T (n.-888+320G>T) c.1340C>A (p.Thr447Asn) | |
17 | g.4934022C= | CA2244625928 | CHRNE,GP1BA | c.1418C= (p.Thr473=) c.-888+320G= (n.-888+320G=) c.1340C= (p.Thr447=) | |
17 | g.4934022C>G | CA397321826 | CHRNE,GP1BA | c.1418C>G (p.Thr473Ser) c.-888+320G>C (n.-888+320G>C) c.1340C>G (p.Thr447Ser) | |
17 | g.4934022C>T | CA287217581 | CHRNE,GP1BA | c.1418C>T (p.Thr473Ile) c.-888+320G>A (n.-888+320G>A) c.1340C>T (p.Thr447Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934023T>A | CA497678130 | CHRNE,GP1BA | c.1419T>A (p.Thr473=) c.-888+319A>T (n.-888+319A>T) c.1341T>A (p.Thr447=) | |
17 | g.4934023T>C | CA497678132 | CHRNE,GP1BA | c.1419T>C (p.Thr473=) c.-888+319A>G (n.-888+319A>G) c.1341T>C (p.Thr447=) | dbSNP gnomAD v4 |
17 | g.4934023T>G | CA497678133 | CHRNE,GP1BA | c.1419T>G (p.Thr473=) c.-888+319A>C (n.-888+319A>C) c.1341T>G (p.Thr447=) | |
17 | g.4934023T= | CA2244625929 | CHRNE,GP1BA | c.1419T= (p.Thr473=) c.-888+319A= (n.-888+319A=) c.1341T= (p.Thr447=) | |
17 | g.4934024C>A | CA397321827 | CHRNE,GP1BA | c.1420C>A (p.Pro474Thr) c.-888+318G>T (n.-888+318G>T) c.1342C>A (p.Pro448Thr) | |
17 | g.4934024C= | CA2244625930 | CHRNE,GP1BA | c.1420C= (p.Pro474=) c.-888+318G= (n.-888+318G=) c.1342C= (p.Pro448=) | |
17 | g.4934024C>G | CA397321828 | CHRNE,GP1BA | c.1420C>G (p.Pro474Ala) c.-888+318G>C (n.-888+318G>C) c.1342C>G (p.Pro448Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4934024C>T | CA397321829 | CHRNE,GP1BA | c.1420C>T (p.Pro474Ser) c.-888+318G>A (n.-888+318G>A) c.1342C>T (p.Pro448Ser) | gnomAD v4 |
17 | g.4934025C>A | CA397321831 | CHRNE,GP1BA | c.1421C>A (p.Pro474Gln) c.-888+317G>T (n.-888+317G>T) c.1343C>A (p.Pro448Gln) | dbSNP gnomAD v4 |
17 | g.4934025C= | CA2244625931 | CHRNE,GP1BA | c.1421C= (p.Pro474=) c.-888+317G= (n.-888+317G=) c.1343C= (p.Pro448=) | |
17 | g.4934025C>G | CA397321832 | CHRNE,GP1BA | c.1421C>G (p.Pro474Arg) c.-888+317G>C (n.-888+317G>C) c.1343C>G (p.Pro448Arg) | |
17 | g.4934025C>T | CA397321833 | CHRNE,GP1BA | c.1421C>T (p.Pro474Leu) c.-888+317G>A (n.-888+317G>A) c.1343C>T (p.Pro448Leu) | |
17 | g.4934026A= | CA2244625932 | CHRNE,GP1BA | c.1422A= (p.Pro474=) c.-888+316T= (n.-888+316T=) c.1344A= (p.Pro448=) | |
17 | g.4934026A>C | CA497678139 | CHRNE,GP1BA | c.1422A>C (p.Pro474=) c.-888+316T>G (n.-888+316T>G) c.1344A>C (p.Pro448=) | |
17 | g.4934026A>G | CA497678138 | CHRNE,GP1BA | c.1422A>G (p.Pro474=) c.-888+316T>C (n.-888+316T>C) c.1344A>G (p.Pro448=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934026A>T | CA497678142 | CHRNE,GP1BA | c.1422A>T (p.Pro474=) c.-888+316T>A (n.-888+316T>A) c.1344A>T (p.Pro448=) | |
17 | g.4934027A>C | CA397321835 | CHRNE,GP1BA | c.1423A>C (p.Lys475Gln) c.-888+315T>G (n.-888+315T>G) c.1345A>C (p.Lys449Gln) | |
17 | g.4934027A>G | CA397321837 | CHRNE,GP1BA | c.1423A>G (p.Lys475Glu) c.-888+315T>C (n.-888+315T>C) c.1345A>G (p.Lys449Glu) | |
17 | g.4934027A>T | CA397321839 | CHRNE,GP1BA | c.1423A>T (p.Lys475Ter) c.-888+315T>A (n.-888+315T>A) c.1345A>T (p.Lys449Ter) | |
17 | g.4934028A= | CA2244625933 | CHRNE,GP1BA | c.1424A= (p.Lys475=) c.-888+314T= (n.-888+314T=) c.1346A= (p.Lys449=) | |
17 | g.4934028A>C | CA397321840 | CHRNE,GP1BA | c.1424A>C (p.Lys475Thr) c.-888+314T>G (n.-888+314T>G) c.1346A>C (p.Lys449Thr) | |
17 | g.4934028A>G | CA8314994 | CHRNE,GP1BA | c.1424A>G (p.Lys475Arg) c.-888+314T>C (n.-888+314T>C) c.1346A>G (p.Lys449Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934028A>T | CA397321842 | CHRNE,GP1BA | c.1424A>T (p.Lys475Ile) c.-888+314T>A (n.-888+314T>A) c.1346A>T (p.Lys449Ile) | |
17 | g.4934029A>C | CA397321844 | CHRNE,GP1BA | c.1425A>C (p.Lys475Asn) c.-888+313T>G (n.-888+313T>G) c.1347A>C (p.Lys449Asn) | |
17 | g.4934029A>G | CA497678153 | CHRNE,GP1BA | c.1425A>G (p.Lys475=) c.-888+313T>C (n.-888+313T>C) c.1347A>G (p.Lys449=) | |
17 | g.4934029A>T | CA397321846 | CHRNE,GP1BA | c.1425A>T (p.Lys475Asn) c.-888+313T>A (n.-888+313T>A) c.1347A>T (p.Lys449Asn) | |
17 | g.4934030A>C | CA397321847 | CHRNE,GP1BA | c.1426A>C (p.Ser476Arg) c.-888+312T>G (n.-888+312T>G) c.1348A>C (p.Ser450Arg) | |
17 | g.4934030A>G | CA397321848 | CHRNE,GP1BA | c.1426A>G (p.Ser476Gly) c.-888+312T>C (n.-888+312T>C) c.1348A>G (p.Ser450Gly) | |
17 | g.4934030A>T | CA397321849 | CHRNE,GP1BA | c.1426A>T (p.Ser476Cys) c.-888+312T>A (n.-888+312T>A) c.1348A>T (p.Ser450Cys) | |
17 | g.4934031G>A | CA397321850 | CHRNE,GP1BA | c.1427G>A (p.Ser476Asn) c.-888+311C>T (n.-888+311C>T) c.1349G>A (p.Ser450Asn) | |
17 | g.4934031G>C | CA397321851 | CHRNE,GP1BA | c.1427G>C (p.Ser476Thr) c.-888+311C>G (n.-888+311C>G) c.1349G>C (p.Ser450Thr) | |
17 | g.4934031G>T | CA397321852 | CHRNE,GP1BA | c.1427G>T (p.Ser476Ile) c.-888+311C>A (n.-888+311C>A) c.1349G>T (p.Ser450Ile) | |
17 | g.4934032C>A | CA397321853 | CHRNE,GP1BA | c.1428C>A (p.Ser476Arg) c.-888+310G>T (n.-888+310G>T) c.1350C>A (p.Ser450Arg) | |
17 | g.4934032C= | CA2244625934 | CHRNE,GP1BA | c.1428C= (p.Ser476=) c.-888+310G= (n.-888+310G=) c.1350C= (p.Ser450=) | |
17 | g.4934032C>G | CA397321855 | CHRNE,GP1BA | c.1428C>G (p.Ser476Arg) c.-888+310G>C (n.-888+310G>C) c.1350C>G (p.Ser450Arg) | |
17 | g.4934032C>T | CA497678165 | CHRNE,GP1BA | c.1428C>T (p.Ser476=) c.-888+310G>A (n.-888+310G>A) c.1350C>T (p.Ser450=) | dbSNP gnomAD v2 |
17 | g.4934033A= | CA2244625935 | CHRNE,GP1BA | c.1429A= (p.Thr477=) c.-888+309T= (n.-888+309T=) c.1351A= (p.Thr451=) | |
17 | g.4934033A>C | CA397321856 | CHRNE,GP1BA | c.1429A>C (p.Thr477Pro) c.-888+309T>G (n.-888+309T>G) c.1351A>C (p.Thr451Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4934033A>G | CA397321858 | CHRNE,GP1BA | c.1429A>G (p.Thr477Ala) c.-888+309T>C (n.-888+309T>C) c.1351A>G (p.Thr451Ala) | |
17 | g.4934033A>T | CA397321860 | CHRNE,GP1BA | c.1429A>T (p.Thr477Ser) c.-888+309T>A (n.-888+309T>A) c.1351A>T (p.Thr451Ser) | |
17 | g.4934034C>A | CA397321862 | CHRNE,GP1BA | c.1430C>A (p.Thr477Lys) c.-888+308G>T (n.-888+308G>T) c.1352C>A (p.Thr451Lys) | |
17 | g.4934034C= | CA2244625936 | CHRNE,GP1BA | c.1430C= (p.Thr477=) c.-888+308G= (n.-888+308G=) c.1352C= (p.Thr451=) | |
17 | g.4934034C>G | CA397321864 | CHRNE,GP1BA | c.1430C>G (p.Thr477Arg) c.-888+308G>C (n.-888+308G>C) c.1352C>G (p.Thr451Arg) | |
17 | g.4934034C>T | CA397321861 | CHRNE,GP1BA | c.1430C>T (p.Thr477Ile) c.-888+308G>A (n.-888+308G>A) c.1352C>T (p.Thr451Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934035A= | CA2244625937 | CHRNE,GP1BA | c.1431A= (p.Thr477=) c.-888+307T= (n.-888+307T=) c.1353A= (p.Thr451=) | |
17 | g.4934035A>C | CA497678174 | CHRNE,GP1BA | c.1431A>C (p.Thr477=) c.-888+307T>G (n.-888+307T>G) c.1353A>C (p.Thr451=) | |
17 | g.4934035A>G | CA8314995 | CHRNE,GP1BA | c.1431A>G (p.Thr477=) c.-888+307T>C (n.-888+307T>C) c.1353A>G (p.Thr451=) | dbSNP ExAC gnomAD v2 |
17 | g.4934035A>T | CA497678176 | CHRNE,GP1BA | c.1431A>T (p.Thr477=) c.-888+307T>A (n.-888+307T>A) c.1353A>T (p.Thr451=) | dbSNP |
17 | g.4934035_4934036delinsAT | CA2244625938 | CHRNE,GP1BA | c.1431_1432delinsAT (p.Thr477=) c.-888+306_-888+307delinsAT (n.-888+306_-888+307delinsAT) c.1353_1354delinsAT (p.Thr451=) | |
17 | g.4934036T>A | CA397321865 | CHRNE,GP1BA | c.1432T>A (p.Phe478Ile) c.-888+306A>T (n.-888+306A>T) c.1354T>A (p.Phe452Ile) | |
17 | g.4934036T>C | CA397321867 | CHRNE,GP1BA | c.1432T>C (p.Phe478Leu) c.-888+306A>G (n.-888+306A>G) c.1354T>C (p.Phe452Leu) | |
17 | g.4934036T>G | CA397321868 | CHRNE,GP1BA | c.1432T>G (p.Phe478Val) c.-888+306A>C (n.-888+306A>C) c.1354T>G (p.Phe452Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934036T= | CA2244625939 | CHRNE,GP1BA | c.1432T= (p.Phe478=) c.-888+306A= (n.-888+306A=) c.1354T= (p.Phe452=) | |
17 | g.4934040dup | CA2695224152 | CHRNE,GP1BA | c.1436dup (p.Leu479PhefsTer19) c.-888+306dup (n.-888+306dup) c.1358dup (p.Leu453PhefsTer19) | |
17 | g.4934040del | CA772703383 | CHRNE,GP1BA | c.1436del (p.Leu479Ter) c.-888+306del (n.-888+306del) c.1358del (p.Leu453Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.4934037T>A | CA397321870 | CHRNE,GP1BA | c.1433T>A (p.Phe478Tyr) c.-888+305A>T (n.-888+305A>T) c.1355T>A (p.Phe452Tyr) | |
17 | g.4934037T>C | CA287217595 | CHRNE,GP1BA | c.1433T>C (p.Phe478Ser) c.-888+305A>G (n.-888+305A>G) c.1355T>C (p.Phe452Ser) | dbSNP |
17 | g.4934037T>G | CA397321872 | CHRNE,GP1BA | c.1433T>G (p.Phe478Cys) c.-888+305A>C (n.-888+305A>C) c.1355T>G (p.Phe452Cys) | |
17 | g.4934037T= | CA2244625940 | CHRNE,GP1BA | c.1433T= (p.Phe478=) c.-888+305A= (n.-888+305A=) c.1355T= (p.Phe452=) | |
17 | g.4934038T>A | CA397321874 | CHRNE,GP1BA | c.1434T>A (p.Phe478Leu) c.-888+304A>T (n.-888+304A>T) c.1356T>A (p.Phe452Leu) | |
17 | g.4934038T>C | CA497678185 | CHRNE,GP1BA | c.1434T>C (p.Phe478=) c.-888+304A>G (n.-888+304A>G) c.1356T>C (p.Phe452=) | gnomAD v4 |
17 | g.4934038T>G | CA397321875 | CHRNE,GP1BA | c.1434T>G (p.Phe478Leu) c.-888+304A>C (n.-888+304A>C) c.1356T>G (p.Phe452Leu) | |
17 | g.4934039T>A | CA397321877 | CHRNE,GP1BA | c.1435T>A (p.Leu479Ile) c.-888+303A>T (n.-888+303A>T) c.1357T>A (p.Leu453Ile) | |
17 | g.4934039T>C | CA397321879 | CHRNE,GP1BA | c.1435T>C (p.Leu479=) c.-888+303A>G (n.-888+303A>G) c.1357T>C (p.Leu453=) | dbSNP |
17 | g.4934039T>G | CA8314996 | CHRNE,GP1BA | c.1435T>G (p.Leu479Val) c.-888+303A>C (n.-888+303A>C) c.1357T>G (p.Leu453Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934039T= | CA2244625941 | CHRNE,GP1BA | c.1435T= (p.Leu479=) c.-888+303A= (n.-888+303A=) c.1357T= (p.Leu453=) | |
17 | g.4934040T>A | CA287217596 | CHRNE,GP1BA | c.1436T>A (p.Leu479Ter) c.-888+302A>T (n.-888+302A>T) c.1358T>A (p.Leu453Ter) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934040T>C | CA397321883 | CHRNE,GP1BA | c.1436T>C (p.Leu479Ser) c.-888+302A>G (n.-888+302A>G) c.1358T>C (p.Leu453Ser) | |
17 | g.4934040T>G | CA397321881 | CHRNE,GP1BA | c.1436T>G (p.Leu479Ter) c.-888+302A>C (n.-888+302A>C) c.1358T>G (p.Leu453Ter) | |
17 | g.4934040T= | CA2244625942 | CHRNE,GP1BA | c.1436T= (p.Leu479=) c.-888+302A= (n.-888+302A=) c.1358T= (p.Leu453=) | |
17 | g.4934041A>C | CA397321885 | CHRNE,GP1BA | c.1437A>C (p.Leu479Phe) c.-888+301T>G (n.-888+301T>G) c.1359A>C (p.Leu453Phe) | |
17 | g.4934041A>G | CA497678198 | CHRNE,GP1BA | c.1437A>G (p.Leu479=) c.-888+301T>C (n.-888+301T>C) c.1359A>G (p.Leu453=) | |
17 | g.4934041A>T | CA397321887 | CHRNE,GP1BA | c.1437A>T (p.Leu479Phe) c.-888+301T>A (n.-888+301T>A) c.1359A>T (p.Leu453Phe) | |
17 | g.4934042A= | CA2244625943 | CHRNE,GP1BA | c.1438A= (p.Thr480=) c.-888+300T= (n.-888+300T=) c.1360A= (p.Thr454=) | |
17 | g.4934042A>C | CA397321888 | CHRNE,GP1BA | c.1438A>C (p.Thr480Pro) c.-888+300T>G (n.-888+300T>G) c.1360A>C (p.Thr454Pro) | |
17 | g.4934042A>G | CA397321889 | CHRNE,GP1BA | c.1438A>G (p.Thr480Ala) c.-888+300T>C (n.-888+300T>C) c.1360A>G (p.Thr454Ala) | |
17 | g.4934042A>T | CA8314997 | CHRNE,GP1BA | c.1438A>T (p.Thr480Ser) c.-888+300T>A (n.-888+300T>A) c.1360A>T (p.Thr454Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934043C>A | CA397321894 | CHRNE,GP1BA | c.1439C>A (p.Thr480Asn) c.-888+299G>T (n.-888+299G>T) c.1361C>A (p.Thr454Asn) | |
17 | g.4934043C= | CA2244625944 | CHRNE,GP1BA | c.1439C= (p.Thr480=) c.-888+299G= (n.-888+299G=) c.1361C= (p.Thr454=) | |
17 | g.4934043C>G | CA397321891 | CHRNE,GP1BA | c.1439C>G (p.Thr480Ser) c.-888+299G>C (n.-888+299G>C) c.1361C>G (p.Thr454Ser) | |
17 | g.4934043C>T | CA8314998 | CHRNE,GP1BA | c.1439C>T (p.Thr480Ile) c.-888+299G>A (n.-888+299G>A) c.1361C>T (p.Thr454Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934044T>A | CA497678209 | CHRNE,GP1BA | c.1440T>A (p.Thr480=) c.-888+298A>T (n.-888+298A>T) c.1362T>A (p.Thr454=) | |
17 | g.4934044T>C | CA497678211 | CHRNE,GP1BA | c.1440T>C (p.Thr480=) c.-888+298A>G (n.-888+298A>G) c.1362T>C (p.Thr454=) | |
17 | g.4934044T>G | CA497678215 | CHRNE,GP1BA | c.1440T>G (p.Thr480=) c.-888+298A>C (n.-888+298A>C) c.1362T>G (p.Thr454=) | dbSNP |
17 | g.4934044T= | CA2244625945 | CHRNE,GP1BA | c.1440T= (p.Thr480=) c.-888+298A= (n.-888+298A=) c.1362T= (p.Thr454=) | |
17 | g.4934045A>C | CA397321895 | CHRNE,GP1BA | c.1441A>C (p.Thr481Pro) c.-888+297T>G (n.-888+297T>G) c.1363A>C (p.Thr455Pro) | |
17 | g.4934045A>G | CA397321896 | CHRNE,GP1BA | c.1441A>G (p.Thr481Ala) c.-888+297T>C (n.-888+297T>C) c.1363A>G (p.Thr455Ala) | |
17 | g.4934045A>T | CA397321897 | CHRNE,GP1BA | c.1441A>T (p.Thr481Ser) c.-888+297T>A (n.-888+297T>A) c.1363A>T (p.Thr455Ser) | |
17 | g.4934046C>A | CA397321899 | CHRNE,GP1BA | c.1442C>A (p.Thr481Asn) c.-888+296G>T (n.-888+296G>T) c.1364C>A (p.Thr455Asn) | |
17 | g.4934046C= | CA2244625946 | CHRNE,GP1BA | c.1442C= (p.Thr481=) c.-888+296G= (n.-888+296G=) c.1364C= (p.Thr455=) | |
17 | g.4934046C>G | CA397321901 | CHRNE,GP1BA | c.1442C>G (p.Thr481Ser) c.-888+296G>C (n.-888+296G>C) c.1364C>G (p.Thr455Ser) | |
17 | g.4934046C>T | CA287217616 | CHRNE,GP1BA | c.1442C>T (p.Thr481Ile) c.-888+296G>A (n.-888+296G>A) c.1364C>T (p.Thr455Ile) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4934047C>A | CA497678222 | CHRNE,GP1BA | c.1443C>A (p.Thr481=) c.-888+295G>T (n.-888+295G>T) c.1365C>A (p.Thr455=) | |
17 | g.4934047C>G | CA497678219 | CHRNE,GP1BA | c.1443C>G (p.Thr481=) c.-888+295G>C (n.-888+295G>C) c.1365C>G (p.Thr455=) | |
17 | g.4934047C>T | CA497678218 | CHRNE,GP1BA | c.1443C>T (p.Thr481=) c.-888+295G>A (n.-888+295G>A) c.1365C>T (p.Thr455=) | |
17 | g.4934048A>C | CA397321906 | CHRNE,GP1BA | c.1444A>C (p.Thr482Pro) c.-888+294T>G (n.-888+294T>G) c.1366A>C (p.Thr456Pro) | |
17 | g.4934048A>G | CA397321904 | CHRNE,GP1BA | c.1444A>G (p.Thr482Ala) c.-888+294T>C (n.-888+294T>C) c.1366A>G (p.Thr456Ala) | gnomAD v4 |
17 | g.4934048A>T | CA397321903 | CHRNE,GP1BA | c.1444A>T (p.Thr482Ser) c.-888+294T>A (n.-888+294T>A) c.1366A>T (p.Thr456Ser) | |
17 | g.4934049C>A | CA397321911 | CHRNE,GP1BA | c.1445C>A (p.Thr482Lys) c.-888+293G>T (n.-888+293G>T) c.1367C>A (p.Thr456Lys) | |
17 | g.4934049C>G | CA397321908 | CHRNE,GP1BA | c.1445C>G (p.Thr482Arg) c.-888+293G>C (n.-888+293G>C) c.1367C>G (p.Thr456Arg) | |
17 | g.4934049C>T | CA397321910 | CHRNE,GP1BA | c.1445C>T (p.Thr482Ile) c.-888+293G>A (n.-888+293G>A) c.1367C>T (p.Thr456Ile) | gnomAD v4 |
17 | g.4934050A>C | CA497678227 | CHRNE,GP1BA | c.1446A>C (p.Thr482=) c.-888+292T>G (n.-888+292T>G) c.1368A>C (p.Thr456=) | |
17 | g.4934050A>G | CA497678226 | CHRNE,GP1BA | c.1446A>G (p.Thr482=) c.-888+292T>C (n.-888+292T>C) c.1368A>G (p.Thr456=) | |
17 | g.4934050A>T | CA497678225 | CHRNE,GP1BA | c.1446A>T (p.Thr482=) c.-888+292T>A (n.-888+292T>A) c.1368A>T (p.Thr456=) | |
17 | g.4934053del | CA2635579327 | CHRNE,GP1BA | c.1449del (p.Lys483AsnfsTer6) c.-888+292del (n.-888+292del) c.1371del (p.Lys457AsnfsTer6) | gnomAD v4 |
17 | g.4934051A>C | CA397321912 | CHRNE,GP1BA | c.1447A>C (p.Lys483Gln) c.-888+291T>G (n.-888+291T>G) c.1369A>C (p.Lys457Gln) | |
17 | g.4934051A>G | CA397321913 | CHRNE,GP1BA | c.1447A>G (p.Lys483Glu) c.-888+291T>C (n.-888+291T>C) c.1369A>G (p.Lys457Glu) | |
17 | g.4934051A>T | CA397321914 | CHRNE,GP1BA | c.1447A>T (p.Lys483Ter) c.-888+291T>A (n.-888+291T>A) c.1369A>T (p.Lys457Ter) | |
17 | g.4934052A>C | CA397321916 | CHRNE,GP1BA | c.1448A>C (p.Lys483Thr) c.-888+290T>G (n.-888+290T>G) c.1370A>C (p.Lys457Thr) | |
17 | g.4934052A>G | CA397321917 | CHRNE,GP1BA | c.1448A>G (p.Lys483Arg) c.-888+290T>C (n.-888+290T>C) c.1370A>G (p.Lys457Arg) | |
17 | g.4934052A>T | CA397321918 | CHRNE,GP1BA | c.1448A>T (p.Lys483Ile) c.-888+290T>A (n.-888+290T>A) c.1370A>T (p.Lys457Ile) | |
17 | g.4934053A>C | CA397321920 | CHRNE,GP1BA | c.1449A>C (p.Lys483Asn) c.-888+289T>G (n.-888+289T>G) c.1371A>C (p.Lys457Asn) | |
17 | g.4934053A>G | CA497678238 | CHRNE,GP1BA | c.1449A>G (p.Lys483=) c.-888+289T>C (n.-888+289T>C) c.1371A>G (p.Lys457=) | |
17 | g.4934053A>T | CA397321922 | CHRNE,GP1BA | c.1449A>T (p.Lys483Asn) c.-888+289T>A (n.-888+289T>A) c.1371A>T (p.Lys457Asn) | |
17 | g.4934054C>A | CA397321923 | CHRNE,GP1BA | c.1450C>A (p.Pro484Thr) c.-888+288G>T (n.-888+288G>T) c.1372C>A (p.Pro458Thr) | |
17 | g.4934054C>G | CA397321924 | CHRNE,GP1BA | c.1450C>G (p.Pro484Ala) c.-888+288G>C (n.-888+288G>C) c.1372C>G (p.Pro458Ala) | |
17 | g.4934054C>T | CA397321926 | CHRNE,GP1BA | c.1450C>T (p.Pro484Ser) c.-888+288G>A (n.-888+288G>A) c.1372C>T (p.Pro458Ser) | |
17 | g.4934056del | CA2576136030 | CHRNE,GP1BA | c.1452del (p.Val485TyrfsTer4) c.-888+288del (n.-888+288del) c.1374del (p.Val459TyrfsTer4) | gnomAD v4 |
17 | g.4934055C>A | CA397321931 | CHRNE,GP1BA | c.1451C>A (p.Pro484His) c.-888+287G>T (n.-888+287G>T) c.1373C>A (p.Pro458His) | |
17 | g.4934055C= | CA2244625947 | CHRNE,GP1BA | c.1451C= (p.Pro484=) c.-888+287G= (n.-888+287G=) c.1373C= (p.Pro458=) | |
17 | g.4934055C>G | CA397321929 | CHRNE,GP1BA | c.1451C>G (p.Pro484Arg) c.-888+287G>C (n.-888+287G>C) c.1373C>G (p.Pro458Arg) | dbSNP |
17 | g.4934055C>T | CA397321928 | CHRNE,GP1BA | c.1451C>T (p.Pro484Leu) c.-888+287G>A (n.-888+287G>A) c.1373C>T (p.Pro458Leu) | |
17 | g.4934056C>A | CA497678244 | CHRNE,GP1BA | c.1452C>A (p.Pro484=) c.-888+286G>T (n.-888+286G>T) c.1374C>A (p.Pro458=) | gnomAD v4 COSMIC |
17 | g.4934056C= | CA2244625948 | CHRNE,GP1BA | c.1452C= (p.Pro484=) c.-888+286G= (n.-888+286G=) c.1374C= (p.Pro458=) | |
17 | g.4934056C>G | CA497678247 | CHRNE,GP1BA | c.1452C>G (p.Pro484=) c.-888+286G>C (n.-888+286G>C) c.1374C>G (p.Pro458=) | gnomAD v4 |
17 | g.4934056C>T | CA8314999 | CHRNE,GP1BA | c.1452C>T (p.Pro484=) c.-888+286G>A (n.-888+286G>A) c.1374C>T (p.Pro458=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934057G>A | CA8315000 | CHRNE,GP1BA | c.1453G>A (p.Val485Ile) c.-888+285C>T (n.-888+285C>T) c.1375G>A (p.Val459Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4934057G>C | CA397321934 | CHRNE,GP1BA | c.1453G>C (p.Val485Leu) c.-888+285C>G (n.-888+285C>G) c.1375G>C (p.Val459Leu) | dbSNP |
17 | g.4934057G= | CA2244625949 | CHRNE,GP1BA | c.1453G= (p.Val485=) c.-888+285C= (n.-888+285C=) c.1375G= (p.Val459=) | |
17 | g.4934057G>T | CA8315001 | CHRNE,GP1BA | c.1453G>T (p.Val485Leu) c.-888+285C>A (n.-888+285C>A) c.1375G>T (p.Val459Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934058T>A | CA397321938 | CHRNE,GP1BA | c.1454T>A (p.Val485Glu) c.-888+284A>T (n.-888+284A>T) c.1376T>A (p.Val459Glu) | |
17 | g.4934058T>C | CA397321940 | CHRNE,GP1BA | c.1454T>C (p.Val485Ala) c.-888+284A>G (n.-888+284A>G) c.1376T>C (p.Val459Ala) | dbSNP |
17 | g.4934058T>G | CA397321941 | CHRNE,GP1BA | c.1454T>G (p.Val485Gly) c.-888+284A>C (n.-888+284A>C) c.1376T>G (p.Val459Gly) | |
17 | g.4934058T= | CA2244625950 | CHRNE,GP1BA | c.1454T= (p.Val485=) c.-888+284A= (n.-888+284A=) c.1376T= (p.Val459=) | |
17 | g.4934058_4934059insCCT | CA2635579348 | CHRNE,GP1BA | c.1454_1455insCCT (p.Val485_Ser486insLeu) c.-888+284_-888+285insGGA (n.-888+284_-888+285insGGA) c.1376_1377insCCT (p.Val459_Ser460insLeu) | gnomAD v4 |
17 | g.4934058dup | CA8315002 | CHRNE,GP1BA | c.1454dup (p.Ser486IlefsTer12) c.-888+284dup (n.-888+284dup) c.1376dup (p.Ser460IlefsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934059A= | CA2244625951 | CHRNE,GP1BA | c.1455A= (p.Val485=) c.-888+283T= (n.-888+283T=) c.1377A= (p.Val459=) | |
17 | g.4934059A>C | CA497678262 | CHRNE,GP1BA | c.1455A>C (p.Val485=) c.-888+283T>G (n.-888+283T>G) c.1377A>C (p.Val459=) | |
17 | g.4934059A>G | CA497678258 | CHRNE,GP1BA | c.1455A>G (p.Val485=) c.-888+283T>C (n.-888+283T>C) c.1377A>G (p.Val459=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934059A>T | CA497678260 | CHRNE,GP1BA | c.1455A>T (p.Val485=) c.-888+283T>A (n.-888+283T>A) c.1377A>T (p.Val459=) | |
17 | g.4934060T>A | CA397321943 | CHRNE,GP1BA | c.1456T>A (p.Ser486Thr) c.-888+282A>T (n.-888+282A>T) c.1378T>A (p.Ser460Thr) | |
17 | g.4934060T>C | CA397321945 | CHRNE,GP1BA | c.1456T>C (p.Ser486Pro) c.-888+282A>G (n.-888+282A>G) c.1378T>C (p.Ser460Pro) | |
17 | g.4934060T>G | CA397321947 | CHRNE,GP1BA | c.1456T>G (p.Ser486Ala) c.-888+282A>C (n.-888+282A>C) c.1378T>G (p.Ser460Ala) | |
17 | g.4934061C>A | CA397321949 | CHRNE,GP1BA | c.1457C>A (p.Ser486Ter) c.-888+281G>T (n.-888+281G>T) c.1379C>A (p.Ser460Ter) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.4934061C= | CA2244625952 | CHRNE,GP1BA | c.1457C= (p.Ser486=) c.-888+281G= (n.-888+281G=) c.1379C= (p.Ser460=) | |
17 | g.4934061C>G | CA397321951 | CHRNE,GP1BA | c.1457C>G (p.Ser486Ter) c.-888+281G>C (n.-888+281G>C) c.1379C>G (p.Ser460Ter) | |
17 | g.4934061C>T | CA397321952 | CHRNE,GP1BA | c.1457C>T (p.Ser486Leu) c.-888+281G>A (n.-888+281G>A) c.1379C>T (p.Ser460Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.4934064_4934076del | CA2635579356 | CHRNE,GP1BA | c.1460_1472del (p.Leu487ProfsTer?) c.-888+269_-888+281del (n.-888+269_-888+281del) c.1382_1394del (p.Leu461ProfsTer?) | gnomAD v4 |
17 | g.4934062A>C | CA497678266 | CHRNE,GP1BA | c.1458A>C (p.Ser486=) c.-888+280T>G (n.-888+280T>G) c.1380A>C (p.Ser460=) | |
17 | g.4934062A>G | CA497678267 | CHRNE,GP1BA | c.1458A>G (p.Ser486=) c.-888+280T>C (n.-888+280T>C) c.1380A>G (p.Ser460=) | |
17 | g.4934062A>T | CA497678268 | CHRNE,GP1BA | c.1458A>T (p.Ser486=) c.-888+280T>A (n.-888+280T>A) c.1380A>T (p.Ser460=) | |
17 | g.4934063C>A | CA397321956 | CHRNE,GP1BA | c.1459C>A (p.Leu487Ile) c.-888+279G>T (n.-888+279G>T) c.1381C>A (p.Leu461Ile) | |
17 | g.4934063C>G | CA397321958 | CHRNE,GP1BA | c.1459C>G (p.Leu487Val) c.-888+279G>C (n.-888+279G>C) c.1381C>G (p.Leu461Val) | |
17 | g.4934063C>T | CA397321955 | CHRNE,GP1BA | c.1459C>T (p.Leu487Phe) c.-888+279G>A (n.-888+279G>A) c.1381C>T (p.Leu461Phe) | |
17 | g.4934064T>A | CA397321959 | CHRNE,GP1BA | c.1460T>A (p.Leu487His) c.-888+278A>T (n.-888+278A>T) c.1382T>A (p.Leu461His) | |
17 | g.4934064T>C | CA397321960 | CHRNE,GP1BA | c.1460T>C (p.Leu487Pro) c.-888+278A>G (n.-888+278A>G) c.1382T>C (p.Leu461Pro) | dbSNP |
17 | g.4934064T>G | CA397321962 | CHRNE,GP1BA | c.1460T>G (p.Leu487Arg) c.-888+278A>C (n.-888+278A>C) c.1382T>G (p.Leu461Arg) | |
17 | g.4934064T= | CA2244625953 | CHRNE,GP1BA | c.1460T= (p.Leu487=) c.-888+278A= (n.-888+278A=) c.1382T= (p.Leu461=) | |
17 | g.4934065C>A | CA497678273 | CHRNE,GP1BA | c.1461C>A (p.Leu487=) c.-888+277G>T (n.-888+277G>T) c.1383C>A (p.Leu461=) | |
17 | g.4934065C>G | CA497678275 | CHRNE,GP1BA | c.1461C>G (p.Leu487=) c.-888+277G>C (n.-888+277G>C) c.1383C>G (p.Leu461=) | |
17 | g.4934065C>T | CA497678276 | CHRNE,GP1BA | c.1461C>T (p.Leu487=) c.-888+277G>A (n.-888+277G>A) c.1383C>T (p.Leu461=) | |
17 | g.4934066T>A | CA397321963 | CHRNE,GP1BA | c.1462T>A (p.Leu488Ile) c.-888+276A>T (n.-888+276A>T) c.1384T>A (p.Leu462Ile) | |
17 | g.4934066T>C | CA497678277 | CHRNE,GP1BA | c.1462T>C (p.Leu488=) c.-888+276A>G (n.-888+276A>G) c.1384T>C (p.Leu462=) | |
17 | g.4934066T>G | CA287217628 | CHRNE,GP1BA | c.1462T>G (p.Leu488Val) c.-888+276A>C (n.-888+276A>C) c.1384T>G (p.Leu462Val) | dbSNP |
17 | g.4934066T= | CA2244625954 | CHRNE,GP1BA | c.1462T= (p.Leu488=) c.-888+276A= (n.-888+276A=) c.1384T= (p.Leu462=) | |
17 | g.4934067T>A | CA397321966 | CHRNE,GP1BA | c.1463T>A (p.Leu488Ter) c.-888+275A>T (n.-888+275A>T) c.1385T>A (p.Leu462Ter) | |
17 | g.4934067T>C | CA8315003 | CHRNE,GP1BA | c.1463T>C (p.Leu488Ser) c.-888+275A>G (n.-888+275A>G) c.1385T>C (p.Leu462Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934067T>G | CA397321969 | CHRNE,GP1BA | c.1463T>G (p.Leu488Ter) c.-888+275A>C (n.-888+275A>C) c.1385T>G (p.Leu462Ter) | |
17 | g.4934067T= | CA2244625955 | CHRNE,GP1BA | c.1463T= (p.Leu488=) c.-888+275A= (n.-888+275A=) c.1385T= (p.Leu462=) | |
17 | g.4934068A>C | CA397321970 | CHRNE,GP1BA | c.1464A>C (p.Leu488Phe) c.-888+274T>G (n.-888+274T>G) c.1386A>C (p.Leu462Phe) | |
17 | g.4934068A>G | CA497678280 | CHRNE,GP1BA | c.1464A>G (p.Leu488=) c.-888+274T>C (n.-888+274T>C) c.1386A>G (p.Leu462=) | |
17 | g.4934068A>T | CA397321972 | CHRNE,GP1BA | c.1464A>T (p.Leu488Phe) c.-888+274T>A (n.-888+274T>A) c.1386A>T (p.Leu462Phe) | |
17 | g.4934069del | CA2695224153 | CHRNE,GP1BA | c.1465del (p.Glu489AsnfsTer?) c.-888+273del (n.-888+273del) c.1387del (p.Glu463AsnfsTer?) | |
17 | g.4934069G>A | CA397321974 | CHRNE,GP1BA | c.1465G>A (p.Glu489Lys) c.-888+273C>T (n.-888+273C>T) c.1387G>A (p.Glu463Lys) | |
17 | g.4934069G>C | CA397321976 | CHRNE,GP1BA | c.1465G>C (p.Glu489Gln) c.-888+273C>G (n.-888+273C>G) c.1387G>C (p.Glu463Gln) | |
17 | g.4934069G>T | CA397321978 | CHRNE,GP1BA | c.1465G>T (p.Glu489Ter) c.-888+273C>A (n.-888+273C>A) c.1387G>T (p.Glu463Ter) | |
17 | g.4934070A>C | CA397321983 | CHRNE,GP1BA | c.1466A>C (p.Glu489Ala) c.-888+272T>G (n.-888+272T>G) c.1388A>C (p.Glu463Ala) | |
17 | g.4934070A>G | CA397321980 | CHRNE,GP1BA | c.1466A>G (p.Glu489Gly) c.-888+272T>C (n.-888+272T>C) c.1388A>G (p.Glu463Gly) | |
17 | g.4934070A>T | CA397321981 | CHRNE,GP1BA | c.1466A>T (p.Glu489Val) c.-888+272T>A (n.-888+272T>A) c.1388A>T (p.Glu463Val) | |
17 | g.4934071A>C | CA397321985 | CHRNE,GP1BA | c.1467A>C (p.Glu489Asp) c.-888+271T>G (n.-888+271T>G) c.1389A>C (p.Glu463Asp) | |
17 | g.4934071A>G | CA497678282 | CHRNE,GP1BA | c.1467A>G (p.Glu489=) c.-888+271T>C (n.-888+271T>C) c.1389A>G (p.Glu463=) | |
17 | g.4934071A>T | CA397321987 | CHRNE,GP1BA | c.1467A>T (p.Glu489Asp) c.-888+271T>A (n.-888+271T>A) c.1389A>T (p.Glu463Asp) | |
17 | g.4934072T>A | CA397321989 | CHRNE,GP1BA | c.1468T>A (p.Ser490Thr) c.-888+270A>T (n.-888+270A>T) c.1390T>A (p.Ser464Thr) | |
17 | g.4934072T>C | CA397321991 | CHRNE,GP1BA | c.1468T>C (p.Ser490Pro) c.-888+270A>G (n.-888+270A>G) c.1390T>C (p.Ser464Pro) | |
17 | g.4934072T>G | CA397321992 | CHRNE,GP1BA | c.1468T>G (p.Ser490Ala) c.-888+270A>C (n.-888+270A>C) c.1390T>G (p.Ser464Ala) | |
17 | g.4934073C>A | CA397321993 | CHRNE,GP1BA | c.1469C>A (p.Ser490Tyr) c.-888+269G>T (n.-888+269G>T) c.1391C>A (p.Ser464Tyr) | |
17 | g.4934073C>G | CA397321994 | CHRNE,GP1BA | c.1469C>G (p.Ser490Cys) c.-888+269G>C (n.-888+269G>C) c.1391C>G (p.Ser464Cys) | |
17 | g.4934073C>T | CA397321995 | CHRNE,GP1BA | c.1469C>T (p.Ser490Phe) c.-888+269G>A (n.-888+269G>A) c.1391C>T (p.Ser464Phe) | |
17 | g.4934074C>A | CA497678287 | CHRNE,GP1BA | c.1470C>A (p.Ser490=) c.-888+268G>T (n.-888+268G>T) c.1392C>A (p.Ser464=) | |
17 | g.4934074C= | CA2244625956 | CHRNE,GP1BA | c.1470C= (p.Ser490=) c.-888+268G= (n.-888+268G=) c.1392C= (p.Ser464=) | |
17 | g.4934074C>G | CA497678289 | CHRNE,GP1BA | c.1470C>G (p.Ser490=) c.-888+268G>C (n.-888+268G>C) c.1392C>G (p.Ser464=) | |
17 | g.4934074C>T | CA8315004 | CHRNE,GP1BA | c.1470C>T (p.Ser490=) c.-888+268G>A (n.-888+268G>A) c.1392C>T (p.Ser464=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934075A>C | CA397321996 | CHRNE,GP1BA | c.1471A>C (p.Thr491Pro) c.-888+267T>G (n.-888+267T>G) c.1393A>C (p.Thr465Pro) | gnomAD v4 |
17 | g.4934075A>G | CA397321997 | CHRNE,GP1BA | c.1471A>G (p.Thr491Ala) c.-888+267T>C (n.-888+267T>C) c.1393A>G (p.Thr465Ala) | |
17 | g.4934075A>T | CA397321998 | CHRNE,GP1BA | c.1471A>T (p.Thr491Ser) c.-888+267T>A (n.-888+267T>A) c.1393A>T (p.Thr465Ser) | |
17 | g.4934076C>A | CA397322000 | CHRNE,GP1BA | c.1472C>A (p.Thr491Asn) c.-888+266G>T (n.-888+266G>T) c.1394C>A (p.Thr465Asn) | |
17 | g.4934076C>G | CA397322001 | CHRNE,GP1BA | c.1472C>G (p.Thr491Ser) c.-888+266G>C (n.-888+266G>C) c.1394C>G (p.Thr465Ser) | |
17 | g.4934076C>T | CA397321999 | CHRNE,GP1BA | c.1472C>T (p.Thr491Ile) c.-888+266G>A (n.-888+266G>A) c.1394C>T (p.Thr465Ile) | |
17 | g.4934077C>A | CA497678291 | CHRNE,GP1BA | c.1473C>A (p.Thr491=) c.-888+265G>T (n.-888+265G>T) c.1395C>A (p.Thr465=) | |
17 | g.4934077C>G | CA497678292 | CHRNE,GP1BA | c.1473C>G (p.Thr491=) c.-888+265G>C (n.-888+265G>C) c.1395C>G (p.Thr465=) | |
17 | g.4934077C>T | CA497678294 | CHRNE,GP1BA | c.1473C>T (p.Thr491=) c.-888+265G>A (n.-888+265G>A) c.1395C>T (p.Thr465=) | |
17 | g.4934077_4934078delinsCA | CA2244625957 | CHRNE,GP1BA | c.1473_1474delinsCA (p.Thr491=) c.-888+264_-888+265delinsTG (n.-888+264_-888+265delinsTG) c.1395_1396delinsCA (p.Thr465=) | |
17 | g.4934078A>C | CA397322003 | CHRNE,GP1BA | c.1474A>C (p.Lys492Gln) c.-888+264T>G (n.-888+264T>G) c.1396A>C (p.Lys466Gln) | |
17 | g.4934078A>G | CA397322004 | CHRNE,GP1BA | c.1474A>G (p.Lys492Glu) c.-888+264T>C (n.-888+264T>C) c.1396A>G (p.Lys466Glu) | |
17 | g.4934078A>T | CA397322002 | CHRNE,GP1BA | c.1474A>T (p.Lys492Ter) c.-888+264T>A (n.-888+264T>A) c.1396A>T (p.Lys466Ter) | |
17 | g.4934084dup | CA8315006 | CHRNE,GP1BA | c.1480dup (p.Thr494AsnfsTer4) c.-888+264dup (n.-888+264dup) c.1402dup (p.Thr468AsnfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4934083_4934084dup | CA1139650722 | CHRNE,GP1BA | c.1479_1480dup (p.Thr494LysfsTer?) c.-888+263_-888+264dup (n.-888+263_-888+264dup) c.1401_1402dup (p.Thr468LysfsTer?) | |
17 | g.4934084del | CA8315005 | CHRNE,GP1BA | c.1480del (p.Thr494ProfsTer?) c.-888+264del (n.-888+264del) c.1402del (p.Thr468ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4934079A>C | CA397322007 | CHRNE,GP1BA | c.1475A>C (p.Lys492Thr) c.-888+263T>G (n.-888+263T>G) c.1397A>C (p.Lys466Thr) | |
17 | g.4934079A>G | CA397322005 | CHRNE,GP1BA | c.1475A>G (p.Lys492Arg) c.-888+263T>C (n.-888+263T>C) c.1397A>G (p.Lys466Arg) | |
17 | g.4934079A>T | CA397322006 | CHRNE,GP1BA | c.1475A>T (p.Lys492Ile) c.-888+263T>A (n.-888+263T>A) c.1397A>T (p.Lys466Ile) | |
17 | g.4934080A>C | CA397322008 | CHRNE,GP1BA | c.1476A>C (p.Lys492Asn) c.-888+262T>G (n.-888+262T>G) c.1398A>C (p.Lys466Asn) | |
17 | g.4934080A>G | CA497678304 | CHRNE,GP1BA | c.1476A>G (p.Lys492=) c.-888+262T>C (n.-888+262T>C) c.1398A>G (p.Lys466=) | |
17 | g.4934080A>T | CA397322009 | CHRNE,GP1BA | c.1476A>T (p.Lys492Asn) c.-888+262T>A (n.-888+262T>A) c.1398A>T (p.Lys466Asn) | |
17 | g.4934081A>C | CA397322010 | CHRNE,GP1BA | c.1477A>C (p.Lys493Gln) c.-888+261T>G (n.-888+261T>G) c.1399A>C (p.Lys467Gln) | |
17 | g.4934081A>G | CA397322011 | CHRNE,GP1BA | c.1477A>G (p.Lys493Glu) c.-888+261T>C (n.-888+261T>C) c.1399A>G (p.Lys467Glu) | |
17 | g.4934081A>T | CA397322012 | CHRNE,GP1BA | c.1477A>T (p.Lys493Ter) c.-888+261T>A (n.-888+261T>A) c.1399A>T (p.Lys467Ter) | |
17 | g.4934082A>C | CA397322013 | CHRNE,GP1BA | c.1478A>C (p.Lys493Thr) c.-888+260T>G (n.-888+260T>G) c.1400A>C (p.Lys467Thr) | |
17 | g.4934082A>G | CA397322014 | CHRNE,GP1BA | c.1478A>G (p.Lys493Arg) c.-888+260T>C (n.-888+260T>C) c.1400A>G (p.Lys467Arg) | gnomAD v4 |
17 | g.4934082A>T | CA397322015 | CHRNE,GP1BA | c.1478A>T (p.Lys493Ile) c.-888+260T>A (n.-888+260T>A) c.1400A>T (p.Lys467Ile) | |
17 | g.4934083A>C | CA397322016 | CHRNE,GP1BA | c.1479A>C (p.Lys493Asn) c.-888+259T>G (n.-888+259T>G) c.1401A>C (p.Lys467Asn) | gnomAD v4 |
17 | g.4934083A>G | CA497678309 | CHRNE,GP1BA | c.1479A>G (p.Lys493=) c.-888+259T>C (n.-888+259T>C) c.1401A>G (p.Lys467=) | |
17 | g.4934083A>T | CA397322017 | CHRNE,GP1BA | c.1479A>T (p.Lys493Asn) c.-888+259T>A (n.-888+259T>A) c.1401A>T (p.Lys467Asn) | |
17 | g.4934084A>C | CA397322018 | CHRNE,GP1BA | c.1480A>C (p.Thr494Pro) c.-888+258T>G (n.-888+258T>G) c.1402A>C (p.Thr468Pro) | |
17 | g.4934084A>G | CA397322020 | CHRNE,GP1BA | c.1480A>G (p.Thr494Ala) c.-888+258T>C (n.-888+258T>C) c.1402A>G (p.Thr468Ala) | |
17 | g.4934084A>T | CA397322019 | CHRNE,GP1BA | c.1480A>T (p.Thr494Ser) c.-888+258T>A (n.-888+258T>A) c.1402A>T (p.Thr468Ser) | |
17 | g.4934085C>A | CA8315007 | CHRNE,GP1BA | c.1481C>A (p.Thr494Asn) c.-888+257G>T (n.-888+257G>T) c.1403C>A (p.Thr468Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934085C= | CA2244625958 | CHRNE,GP1BA | c.1481C= (p.Thr494=) c.-888+257G= (n.-888+257G=) c.1403C= (p.Thr468=) | |
17 | g.4934085C>G | CA397322021 | CHRNE,GP1BA | c.1481C>G (p.Thr494Ser) c.-888+257G>C (n.-888+257G>C) c.1403C>G (p.Thr468Ser) | |
17 | g.4934085C>T | CA397322022 | CHRNE,GP1BA | c.1481C>T (p.Thr494Ile) c.-888+257G>A (n.-888+257G>A) c.1403C>T (p.Thr468Ile) | |
17 | g.4934086C>A | CA287217678 | CHRNE,GP1BA | c.1482C>A (p.Thr494=) c.-888+256G>T (n.-888+256G>T) c.1404C>A (p.Thr468=) | dbSNP |
17 | g.4934086C= | CA2244625959 | CHRNE,GP1BA | c.1482C= (p.Thr494=) c.-888+256G= (n.-888+256G=) c.1404C= (p.Thr468=) | |
17 | g.4934086C>G | CA497678317 | CHRNE,GP1BA | c.1482C>G (p.Thr494=) c.-888+256G>C (n.-888+256G>C) c.1404C>G (p.Thr468=) | |
17 | g.4934086C>T | CA497678319 | CHRNE,GP1BA | c.1482C>T (p.Thr494=) c.-888+256G>A (n.-888+256G>A) c.1404C>T (p.Thr468=) | |
17 | g.4934087A>C | CA397322023 | CHRNE,GP1BA | c.1483A>C (p.Ile495Leu) c.-888+255T>G (n.-888+255T>G) c.1405A>C (p.Ile469Leu) | |
17 | g.4934087A>G | CA397322024 | CHRNE,GP1BA | c.1483A>G (p.Ile495Val) c.-888+255T>C (n.-888+255T>C) c.1405A>G (p.Ile469Val) | |
17 | g.4934087A>T | CA397322025 | CHRNE,GP1BA | c.1483A>T (p.Ile495Phe) c.-888+255T>A (n.-888+255T>A) c.1405A>T (p.Ile469Phe) | |
17 | g.4934088T>A | CA397322026 | CHRNE,GP1BA | c.1484T>A (p.Ile495Asn) c.-888+254A>T (n.-888+254A>T) c.1406T>A (p.Ile469Asn) | |
17 | g.4934088T>C | CA397322027 | CHRNE,GP1BA | c.1484T>C (p.Ile495Thr) c.-888+254A>G (n.-888+254A>G) c.1406T>C (p.Ile469Thr) | |
17 | g.4934088T>G | CA397322028 | CHRNE,GP1BA | c.1484T>G (p.Ile495Ser) c.-888+254A>C (n.-888+254A>C) c.1406T>G (p.Ile469Ser) | |
17 | g.4934089C>A | CA497678323 | CHRNE,GP1BA | c.1485C>A (p.Ile495=) c.-888+253G>T (n.-888+253G>T) c.1407C>A (p.Ile469=) | gnomAD v4 |
17 | g.4934089C= | CA2244625960 | CHRNE,GP1BA | c.1485C= (p.Ile495=) c.-888+253G= (n.-888+253G=) c.1407C= (p.Ile469=) | |
17 | g.4934089C>G | CA397322029 | CHRNE,GP1BA | c.1485C>G (p.Ile495Met) c.-888+253G>C (n.-888+253G>C) c.1407C>G (p.Ile469Met) | |
17 | g.4934089C>T | CA8315008 | CHRNE,GP1BA | c.1485C>T (p.Ile495=) c.-888+253G>A (n.-888+253G>A) c.1407C>T (p.Ile469=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.4934090C>A | CA397322030 | CHRNE,GP1BA | c.1486C>A (p.Pro496Thr) c.-888+252G>T (n.-888+252G>T) c.1408C>A (p.Pro470Thr) | |
17 | g.4934090C= | CA2244625961 | CHRNE,GP1BA | c.1486C= (p.Pro496=) c.-888+252G= (n.-888+252G=) c.1408C= (p.Pro470=) | |
17 | g.4934090C>G | CA397322031 | CHRNE,GP1BA | c.1486C>G (p.Pro496Ala) c.-888+252G>C (n.-888+252G>C) c.1408C>G (p.Pro470Ala) | |
17 | g.4934090C>T | CA8315009 | CHRNE,GP1BA | c.1486C>T (p.Pro496Ser) c.-888+252G>A (n.-888+252G>A) c.1408C>T (p.Pro470Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934091C>A | CA397322032 | CHRNE,GP1BA | c.1487C>A (p.Pro496His) c.-888+251G>T (n.-888+251G>T) c.1409C>A (p.Pro470His) | |
17 | g.4934091C= | CA2244625963 | CHRNE,GP1BA | c.1487C= (p.Pro496=) c.-888+251G= (n.-888+251G=) c.1409C= (p.Pro470=) | |
17 | g.4934091C>G | CA397322033 | CHRNE,GP1BA | c.1487C>G (p.Pro496Arg) c.-888+251G>C (n.-888+251G>C) c.1409C>G (p.Pro470Arg) | |
17 | g.4934091C>T | CA8315010 | CHRNE,GP1BA | c.1487C>T (p.Pro496Leu) c.-888+251G>A (n.-888+251G>A) c.1409C>T (p.Pro470Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934091_4934097delinsCTGAACT | CA2244625962 | CHRNE,GP1BA | c.1487_1493delinsCTGAACT (p.Pro496=) c.-888+245_-888+251delinsAGTTCAG (n.-888+245_-888+251delinsAGTTCAG) c.1409_1415delinsCTGAACT (p.Pro470=) | |
17 | g.4934092T>A | CA497678326 | CHRNE,GP1BA | c.1488T>A (p.Pro496=) c.-888+250A>T (n.-888+250A>T) c.1410T>A (p.Pro470=) | |
17 | g.4934092T>C | CA497678327 | CHRNE,GP1BA | c.1488T>C (p.Pro496=) c.-888+250A>G (n.-888+250A>G) c.1410T>C (p.Pro470=) | |
17 | g.4934092T>G | CA497678328 | CHRNE,GP1BA | c.1488T>G (p.Pro496=) c.-888+250A>C (n.-888+250A>C) c.1410T>G (p.Pro470=) | |
17 | g.4934095_4934100del | CA8315011 | CHRNE,GP1BA | c.1491_1496del (p.Glu497_Leu498del) c.-888+245_-888+250del (n.-888+245_-888+250del) c.1413_1418del (p.Glu471_Leu472del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.4934093G>A | CA397322034 | CHRNE,GP1BA | c.1489G>A (p.Glu497Lys) c.-888+249C>T (n.-888+249C>T) c.1411G>A (p.Glu471Lys) | |
17 | g.4934093G>C | CA397322035 | CHRNE,GP1BA | c.1489G>C (p.Glu497Gln) c.-888+249C>G (n.-888+249C>G) c.1411G>C (p.Glu471Gln) | |
17 | g.4934093G>T | CA397322036 | CHRNE,GP1BA | c.1489G>T (p.Glu497Ter) c.-888+249C>A (n.-888+249C>A) c.1411G>T (p.Glu471Ter) | |
17 | g.4934094A>C | CA397322037 | CHRNE,GP1BA | c.1490A>C (p.Glu497Ala) c.-888+248T>G (n.-888+248T>G) c.1412A>C (p.Glu471Ala) | |
17 | g.4934094A>G | CA397322038 | CHRNE,GP1BA | c.1490A>G (p.Glu497Gly) c.-888+248T>C (n.-888+248T>C) c.1412A>G (p.Glu471Gly) | |
17 | g.4934094A>T | CA397322039 | CHRNE,GP1BA | c.1490A>T (p.Glu497Val) c.-888+248T>A (n.-888+248T>A) c.1412A>T (p.Glu471Val) | |
17 | g.4934095A>C | CA397322041 | CHRNE,GP1BA | c.1491A>C (p.Glu497Asp) c.-888+247T>G (n.-888+247T>G) c.1413A>C (p.Glu471Asp) | |
17 | g.4934095A>G | CA497678332 | CHRNE,GP1BA | c.1491A>G (p.Glu497=) c.-888+247T>C (n.-888+247T>C) c.1413A>G (p.Glu471=) | |
17 | g.4934095A>T | CA397322040 | CHRNE,GP1BA | c.1491A>T (p.Glu497Asp) c.-888+247T>A (n.-888+247T>A) c.1413A>T (p.Glu471Asp) | |
17 | g.4934096C>A | CA397322042 | CHRNE,GP1BA | c.1492C>A (p.Leu498Ile) c.-888+246G>T (n.-888+246G>T) c.1414C>A (p.Leu472Ile) | |
17 | g.4934096C>G | CA397322043 | CHRNE,GP1BA | c.1492C>G (p.Leu498Val) c.-888+246G>C (n.-888+246G>C) c.1414C>G (p.Leu472Val) | |
17 | g.4934096C>T | CA397322044 | CHRNE,GP1BA | c.1492C>T (p.Leu498Phe) c.-888+246G>A (n.-888+246G>A) c.1414C>T (p.Leu472Phe) | |
17 | g.4934097T>A | CA397322045 | CHRNE,GP1BA | c.1493T>A (p.Leu498His) c.-888+245A>T (n.-888+245A>T) c.1415T>A (p.Leu472His) | |
17 | g.4934097T>C | CA397322046 | CHRNE,GP1BA | c.1493T>C (p.Leu498Pro) c.-888+245A>G (n.-888+245A>G) c.1415T>C (p.Leu472Pro) | |
17 | g.4934097T>G | CA397322047 | CHRNE,GP1BA | c.1493T>G (p.Leu498Arg) c.-888+245A>C (n.-888+245A>C) c.1415T>G (p.Leu472Arg) | |
17 | g.4934098T>A | CA497678333 | CHRNE,GP1BA | c.1494T>A (p.Leu498=) c.-888+244A>T (n.-888+244A>T) c.1416T>A (p.Leu472=) | |
17 | g.4934098T>C | CA497678334 | CHRNE,GP1BA | c.1494T>C (p.Leu498=) c.-888+244A>G (n.-888+244A>G) c.1416T>C (p.Leu472=) | |
17 | g.4934098T>G | CA8315012 | CHRNE,GP1BA | c.1494T>G (p.Leu498=) c.-888+244A>C (n.-888+244A>C) c.1416T>G (p.Leu472=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.4934098T= | CA2244625964 | CHRNE,GP1BA | c.1494T= (p.Leu498=) c.-888+244A= (n.-888+244A=) c.1416T= (p.Leu472=) | |
17 | g.4934099G>A | CA397322048 | CHRNE,GP1BA | c.1495G>A (p.Asp499Asn) c.-888+243C>T (n.-888+243C>T) c.1417G>A (p.Asp473Asn) | |
17 | g.4934099G>C | CA287217704 | CHRNE,GP1BA | c.1495G>C (p.Asp499His) c.-888+243C>G (n.-888+243C>G) c.1417G>C (p.Asp473His) | dbSNP gnomAD v4 |
17 | g.4934099G= | CA2244625965 | CHRNE,GP1BA | c.1495G= (p.Asp499=) c.-888+243C= (n.-888+243C=) c.1417G= (p.Asp473=) | |
17 | g.4934099G>T | CA397322049 | CHRNE,GP1BA | c.1495G>T (p.Asp499Tyr) c.-888+243C>A (n.-888+243C>A) c.1417G>T (p.Asp473Tyr) |