Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.75985576_75985588delCA842282616PORc.1174-3_1183del
c.1300-3_1309del
c.1399-3_1408del
c.*109-484_*109-472del (n.*109-484_*109-472del)
c.613-3_622del
c.1550-3_1559del
c.*704-3_*713del
n.7_19del
n.773-3_782del
c.1453-3_1462del
c.1249-3_1258del
c.1390-3_1399del
c.1444-3_1453del
c.1240-3_1249del
 dbSNP gnomAD v4
7g.75985588_75985590dupCA2683383661PORc.1183_1185dup (p.Asn395_Ser396insAsn)
c.1309_1311dup (p.Asn437_Ser438insAsn)
c.1408_1410dup (p.Asn470_Ser471insAsn)
c.*109-472_*109-470dup (n.*109-472_*109-470dup)
c.622_624dup (p.Asn208_Ser209insAsn)
c.1559_1561dup
c.*713_*715dup (n.*713_*715dup)
n.19_21dup
n.782_784dup
c.1462_1464dup (p.Asn488_Ser489insAsn)
c.1258_1260dup (p.Asn420_Ser421insAsn)
c.1399_1401dup (p.Asn467_Ser468insAsn)
c.1453_1455dup (p.Asn485_Ser486insAsn)
c.1249_1251dup (p.Asn417_Ser418insAsn)
 gnomAD v4
7g.75985588A>CCA367749900PORc.1183A>C (p.Asn395His)
c.1309A>C (p.Asn437His)
c.1408A>C (p.Asn470His)
c.*109-472A>C (n.*109-472A>C)
c.622A>C (p.Asn208His)
c.1559A>C
c.*713A>C (n.*713A>C)
n.19A>C
n.782A>C
c.1462A>C (p.Asn488His)
c.1258A>C (p.Asn420His)
c.1399A>C (p.Asn467His)
c.1453A>C (p.Asn485His)
c.1249A>C (p.Asn417His)
 gnomAD v4
7g.75985588A>GCA367749898PORc.1183A>G (p.Asn395Asp)
c.1309A>G (p.Asn437Asp)
c.1408A>G (p.Asn470Asp)
c.*109-472A>G (n.*109-472A>G)
c.622A>G (p.Asn208Asp)
c.1559A>G
c.*713A>G (n.*713A>G)
n.19A>G
n.782A>G
c.1462A>G (p.Asn488Asp)
c.1258A>G (p.Asn420Asp)
c.1399A>G (p.Asn467Asp)
c.1453A>G (p.Asn485Asp)
c.1249A>G (p.Asn417Asp)
7g.75985588A>TCA367749899PORc.1183A>T (p.Asn395Tyr)
c.1309A>T (p.Asn437Tyr)
c.1408A>T (p.Asn470Tyr)
c.*109-472A>T (n.*109-472A>T)
c.622A>T (p.Asn208Tyr)
c.1559A>T
c.*713A>T (n.*713A>T)
n.19A>T
n.782A>T
c.1462A>T (p.Asn488Tyr)
c.1258A>T (p.Asn420Tyr)
c.1399A>T (p.Asn467Tyr)
c.1453A>T (p.Asn485Tyr)
c.1249A>T (p.Asn417Tyr)
7g.75985589A>CCA367749901PORc.1184A>C (p.Asn395Thr)
c.1310A>C (p.Asn437Thr)
c.1409A>C (p.Asn470Thr)
c.*109-471A>C (n.*109-471A>C)
c.623A>C (p.Asn208Thr)
c.1560A>C
c.*714A>C (n.*714A>C)
n.20A>C
n.783A>C
c.1463A>C (p.Asn488Thr)
c.1259A>C (p.Asn420Thr)
c.1400A>C (p.Asn467Thr)
c.1454A>C (p.Asn485Thr)
c.1250A>C (p.Asn417Thr)
7g.75985589A>GCA367749902PORc.1184A>G (p.Asn395Ser)
c.1310A>G (p.Asn437Ser)
c.1409A>G (p.Asn470Ser)
c.*109-471A>G (n.*109-471A>G)
c.623A>G (p.Asn208Ser)
c.1560A>G
c.*714A>G (n.*714A>G)
n.20A>G
n.783A>G
c.1463A>G (p.Asn488Ser)
c.1259A>G (p.Asn420Ser)
c.1400A>G (p.Asn467Ser)
c.1454A>G (p.Asn485Ser)
c.1250A>G (p.Asn417Ser)
 gnomAD v4
7g.75985589A>TCA367749903PORc.1184A>T (p.Asn395Ile)
c.1310A>T (p.Asn437Ile)
c.1409A>T (p.Asn470Ile)
c.*109-471A>T (n.*109-471A>T)
c.623A>T (p.Asn208Ile)
c.1560A>T
c.*714A>T (n.*714A>T)
n.20A>T
n.783A>T
c.1463A>T (p.Asn488Ile)
c.1259A>T (p.Asn420Ile)
c.1400A>T (p.Asn467Ile)
c.1454A>T (p.Asn485Ile)
c.1250A>T (p.Asn417Ile)
7g.75985590C>ACA367749904PORc.1185C>A (p.Asn395Lys)
c.1311C>A (p.Asn437Lys)
c.1410C>A (p.Asn470Lys)
c.*109-470C>A (n.*109-470C>A)
c.624C>A (p.Asn208Lys)
c.1561C>A
c.*715C>A (n.*715C>A)
n.21C>A
n.784C>A
c.1464C>A (p.Asn488Lys)
c.1260C>A (p.Asn420Lys)
c.1401C>A (p.Asn467Lys)
c.1455C>A (p.Asn485Lys)
c.1251C>A (p.Asn417Lys)
 gnomAD v4
7g.75985590C>GCA367749905PORc.1185C>G (p.Asn395Lys)
c.1311C>G (p.Asn437Lys)
c.1410C>G (p.Asn470Lys)
c.*109-470C>G (n.*109-470C>G)
c.624C>G (p.Asn208Lys)
c.1561C>G
c.*715C>G (n.*715C>G)
n.21C>G
n.784C>G
c.1464C>G (p.Asn488Lys)
c.1260C>G (p.Asn420Lys)
c.1401C>G (p.Asn467Lys)
c.1455C>G (p.Asn485Lys)
c.1251C>G (p.Asn417Lys)
7g.75985590C>TCA456075798PORc.1185C>T (p.Asn395=)
c.1311C>T (p.Asn437=)
c.1410C>T (p.Asn470=)
c.*109-470C>T (n.*109-470C>T)
c.624C>T (p.Asn208=)
c.1561C>T
c.*715C>T (n.*715C>T)
n.21C>T
n.784C>T
c.1464C>T (p.Asn488=)
c.1260C>T (p.Asn420=)
c.1401C>T (p.Asn467=)
c.1455C>T (p.Asn485=)
c.1251C>T (p.Asn417=)
7g.75985591T>ACA367749906PORc.1186T>A (p.Ser396Thr)
c.1312T>A (p.Ser438Thr)
c.1411T>A (p.Ser471Thr)
c.*109-469T>A (n.*109-469T>A)
c.625T>A (p.Ser209Thr)
c.1562T>A
c.*716T>A (n.*716T>A)
n.22T>A
n.785T>A
c.1465T>A (p.Ser489Thr)
c.1261T>A (p.Ser421Thr)
c.1402T>A (p.Ser468Thr)
c.1456T>A (p.Ser486Thr)
c.1252T>A (p.Ser418Thr)
7g.75985591T>CCA367749907PORc.1186T>C (p.Ser396Pro)
c.1312T>C (p.Ser438Pro)
c.1411T>C (p.Ser471Pro)
c.*109-469T>C (n.*109-469T>C)
c.625T>C (p.Ser209Pro)
c.1562T>C
c.*716T>C (n.*716T>C)
n.22T>C
n.785T>C
c.1465T>C (p.Ser489Pro)
c.1261T>C (p.Ser421Pro)
c.1402T>C (p.Ser468Pro)
c.1456T>C (p.Ser486Pro)
c.1252T>C (p.Ser418Pro)
 gnomAD v4
7g.75985591T>GCA367749908PORc.1186T>G (p.Ser396Ala)
c.1312T>G (p.Ser438Ala)
c.1411T>G (p.Ser471Ala)
c.*109-469T>G (n.*109-469T>G)
c.625T>G (p.Ser209Ala)
c.1562T>G
c.*716T>G (n.*716T>G)
n.22T>G
n.785T>G
c.1465T>G (p.Ser489Ala)
c.1261T>G (p.Ser421Ala)
c.1402T>G (p.Ser468Ala)
c.1456T>G (p.Ser486Ala)
c.1252T>G (p.Ser418Ala)
 dbSNP
7g.75985591T=CA1718180212PORc.1186T= (p.Ser396=)
c.1312T= (p.Ser438=)
c.1411T= (p.Ser471=)
c.*109-469T= (n.*109-469T=)
c.625T= (p.Ser209=)
c.1562T=
c.*716T= (n.*716T=)
n.22T=
n.785T=
c.1465T= (p.Ser489=)
c.1261T= (p.Ser421=)
c.1402T= (p.Ser468=)
c.1456T= (p.Ser486=)
c.1252T= (p.Ser418=)
7g.75985598_75985607delCA2683383701PORc.1193_1202del (p.His398ArgfsTer?)
c.1319_1328del (p.His440ArgfsTer?)
c.1418_1427del (p.His473ArgfsTer?)
c.*109-462_*109-453del (n.*109-462_*109-453del)
c.632_641del (p.His211ArgfsTer?)
c.1569_1578del
c.*723_*732del (n.*723_*732del)
n.29_38del
n.792_801del
c.1472_1481del (p.His491ArgfsTer?)
c.1268_1277del (p.His423ArgfsTer?)
c.1409_1418del (p.His470ArgfsTer?)
c.1463_1472del (p.His488ArgfsTer?)
c.1259_1268del (p.His420ArgfsTer?)
 gnomAD v4
7g.75985592C>ACA367749909PORc.1187C>A (p.Ser396Tyr)
c.1313C>A (p.Ser438Tyr)
c.1412C>A (p.Ser471Tyr)
c.*109-468C>A (n.*109-468C>A)
c.626C>A (p.Ser209Tyr)
c.1563C>A
c.*717C>A (n.*717C>A)
n.23C>A
n.786C>A
c.1466C>A (p.Ser489Tyr)
c.1262C>A (p.Ser421Tyr)
c.1403C>A (p.Ser468Tyr)
c.1457C>A (p.Ser486Tyr)
c.1253C>A (p.Ser418Tyr)
 gnomAD v4
7g.75985592C=CA1718180214PORc.1187C= (p.Ser396=)
c.1313C= (p.Ser438=)
c.1412C= (p.Ser471=)
c.*109-468C= (n.*109-468C=)
c.626C= (p.Ser209=)
c.1563C=
c.*717C= (n.*717C=)
n.23C=
n.786C=
c.1466C= (p.Ser489=)
c.1262C= (p.Ser421=)
c.1403C= (p.Ser468=)
c.1457C= (p.Ser486=)
c.1253C= (p.Ser418=)
7g.75985592C>GCA367749910PORc.1187C>G (p.Ser396Cys)
c.1313C>G (p.Ser438Cys)
c.1412C>G (p.Ser471Cys)
c.*109-468C>G (n.*109-468C>G)
c.626C>G (p.Ser209Cys)
c.1563C>G
c.*717C>G (n.*717C>G)
n.23C>G
n.786C>G
c.1466C>G (p.Ser489Cys)
c.1262C>G (p.Ser421Cys)
c.1403C>G (p.Ser468Cys)
c.1457C>G (p.Ser486Cys)
c.1253C>G (p.Ser418Cys)
7g.75985592C>TCA367749911PORc.1187C>T (p.Ser396Phe)
c.1313C>T (p.Ser438Phe)
c.1412C>T (p.Ser471Phe)
c.*109-468C>T (n.*109-468C>T)
c.626C>T (p.Ser209Phe)
c.1563C>T
c.*717C>T (n.*717C>T)
n.23C>T
n.786C>T
c.1466C>T (p.Ser489Phe)
c.1262C>T (p.Ser421Phe)
c.1403C>T (p.Ser468Phe)
c.1457C>T (p.Ser486Phe)
c.1253C>T (p.Ser418Phe)
 dbSNP gnomAD v4
7g.75985592_75985594delinsCTGCA1718180213PORc.1187_1189delinsCTG (p.Ser396=)
c.1313_1315delinsCTG (p.Ser438=)
c.1412_1414delinsCTG (p.Ser471=)
c.*109-468_*109-466delinsCTG (n.*109-468_*109-466delinsCTG)
c.626_628delinsCTG (p.Ser209=)
c.1563_1565delinsCTG
c.*717_*719delinsCTG (n.*717_*719delinsCTG)
n.23_25delinsCTG
n.786_788delinsCTG
c.1466_1468delinsCTG (p.Ser489=)
c.1262_1264delinsCTG (p.Ser421=)
c.1403_1405delinsCTG (p.Ser468=)
c.1457_1459delinsCTG (p.Ser486=)
c.1253_1255delinsCTG (p.Ser418=)
7g.75985593T>ACA456075811PORc.1188T>A (p.Ser396=)
c.1314T>A (p.Ser438=)
c.1413T>A (p.Ser471=)
c.*109-467T>A (n.*109-467T>A)
c.627T>A (p.Ser209=)
c.1564T>A
c.*718T>A (n.*718T>A)
n.24T>A
n.787T>A
c.1467T>A (p.Ser489=)
c.1263T>A (p.Ser421=)
c.1404T>A (p.Ser468=)
c.1458T>A (p.Ser486=)
c.1254T>A (p.Ser418=)
7g.75985593T>CCA456075813PORc.1188T>C (p.Ser396=)
c.1314T>C (p.Ser438=)
c.1413T>C (p.Ser471=)
c.*109-467T>C (n.*109-467T>C)
c.627T>C (p.Ser209=)
c.1564T>C
c.*718T>C (n.*718T>C)
n.24T>C
n.787T>C
c.1467T>C (p.Ser489=)
c.1263T>C (p.Ser421=)
c.1404T>C (p.Ser468=)
c.1458T>C (p.Ser486=)
c.1254T>C (p.Ser418=)
 gnomAD v4
7g.75985593T>GCA456075814PORc.1188T>G (p.Ser396=)
c.1314T>G (p.Ser438=)
c.1413T>G (p.Ser471=)
c.*109-467T>G (n.*109-467T>G)
c.627T>G (p.Ser209=)
c.1564T>G
c.*718T>G (n.*718T>G)
n.24T>G
n.787T>G
c.1467T>G (p.Ser489=)
c.1263T>G (p.Ser421=)
c.1404T>G (p.Ser468=)
c.1458T>G (p.Ser486=)
c.1254T>G (p.Ser418=)
7g.75985595_75985596delCA4304134PORc.1190_1191del (p.Val397AlafsTer?)
c.1316_1317del (p.Val439AlafsTer?)
c.1415_1416del (p.Val472AlafsTer?)
c.*109-465_*109-464del (n.*109-465_*109-464del)
c.629_630del (p.Val210AlafsTer?)
c.1566_1567del
c.*720_*721del (n.*720_*721del)
n.26_27del
n.789_790del
c.1469_1470del (p.Val490AlafsTer?)
c.1265_1266del (p.Val422AlafsTer?)
c.1406_1407del (p.Val469AlafsTer?)
c.1460_1461del (p.Val487AlafsTer?)
c.1256_1257del (p.Val419AlafsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985594G>ACA4304135PORc.1189G>A (p.Val397Met)
c.1315G>A (p.Val439Met)
c.1414G>A (p.Val472Met)
c.*109-466G>A (n.*109-466G>A)
c.628G>A (p.Val210Met)
c.1565G>A
c.*719G>A (n.*719G>A)
n.25G>A
n.788G>A
c.1468G>A (p.Val490Met)
c.1264G>A (p.Val422Met)
c.1405G>A (p.Val469Met)
c.1459G>A (p.Val487Met)
c.1255G>A (p.Val419Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985594G>CCA4304136PORc.1189G>C (p.Val397Leu)
c.1315G>C (p.Val439Leu)
c.1414G>C (p.Val472Leu)
c.*109-466G>C (n.*109-466G>C)
c.628G>C (p.Val210Leu)
c.1565G>C
c.*719G>C (n.*719G>C)
n.25G>C
n.788G>C
c.1468G>C (p.Val490Leu)
c.1264G>C (p.Val422Leu)
c.1405G>C (p.Val469Leu)
c.1459G>C (p.Val487Leu)
c.1255G>C (p.Val419Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985594G=CA1718180215PORc.1189G= (p.Val397=)
c.1315G= (p.Val439=)
c.1414G= (p.Val472=)
c.*109-466G= (n.*109-466G=)
c.628G= (p.Val210=)
c.1565G=
c.*719G= (n.*719G=)
n.25G=
n.788G=
c.1468G= (p.Val490=)
c.1264G= (p.Val422=)
c.1405G= (p.Val469=)
c.1459G= (p.Val487=)
c.1255G= (p.Val419=)
7g.75985594G>TCA367749912PORc.1189G>T (p.Val397Leu)
c.1315G>T (p.Val439Leu)
c.1414G>T (p.Val472Leu)
c.*109-466G>T (n.*109-466G>T)
c.628G>T (p.Val210Leu)
c.1565G>T
c.*719G>T (n.*719G>T)
n.25G>T
n.788G>T
c.1468G>T (p.Val490Leu)
c.1264G>T (p.Val422Leu)
c.1405G>T (p.Val469Leu)
c.1459G>T (p.Val487Leu)
c.1255G>T (p.Val419Leu)
 gnomAD v4
7g.75985595T>ACA367749913PORc.1190T>A (p.Val397Glu)
c.1316T>A (p.Val439Glu)
c.1415T>A (p.Val472Glu)
c.*109-465T>A (n.*109-465T>A)
c.629T>A (p.Val210Glu)
c.1566T>A
c.*720T>A (n.*720T>A)
n.26T>A
n.789T>A
c.1469T>A (p.Val490Glu)
c.1265T>A (p.Val422Glu)
c.1406T>A (p.Val469Glu)
c.1460T>A (p.Val487Glu)
c.1256T>A (p.Val419Glu)
7g.75985595T>CCA367749914PORc.1190T>C (p.Val397Ala)
c.1316T>C (p.Val439Ala)
c.1415T>C (p.Val472Ala)
c.*109-465T>C (n.*109-465T>C)
c.629T>C (p.Val210Ala)
c.1566T>C
c.*720T>C (n.*720T>C)
n.26T>C
n.789T>C
c.1469T>C (p.Val490Ala)
c.1265T>C (p.Val422Ala)
c.1406T>C (p.Val469Ala)
c.1460T>C (p.Val487Ala)
c.1256T>C (p.Val419Ala)
 gnomAD v4
7g.75985595T>GCA367749915PORc.1190T>G (p.Val397Gly)
c.1316T>G (p.Val439Gly)
c.1415T>G (p.Val472Gly)
c.*109-465T>G (n.*109-465T>G)
c.629T>G (p.Val210Gly)
c.1566T>G
c.*720T>G (n.*720T>G)
n.26T>G
n.789T>G
c.1469T>G (p.Val490Gly)
c.1265T>G (p.Val422Gly)
c.1406T>G (p.Val469Gly)
c.1460T>G (p.Val487Gly)
c.1256T>G (p.Val419Gly)
7g.75985596G>ACA456075823PORc.1191G>A (p.Val397=)
c.1317G>A (p.Val439=)
c.1416G>A (p.Val472=)
c.*109-464G>A (n.*109-464G>A)
c.630G>A (p.Val210=)
c.1567G>A
c.*721G>A (n.*721G>A)
n.27G>A
n.790G>A
c.1470G>A (p.Val490=)
c.1266G>A (p.Val422=)
c.1407G>A (p.Val469=)
c.1461G>A (p.Val487=)
c.1257G>A (p.Val419=)
 gnomAD v4
7g.75985596G>CCA456075825PORc.1191G>C (p.Val397=)
c.1317G>C (p.Val439=)
c.1416G>C (p.Val472=)
c.*109-464G>C (n.*109-464G>C)
c.630G>C (p.Val210=)
c.1567G>C
c.*721G>C (n.*721G>C)
n.27G>C
n.790G>C
c.1470G>C (p.Val490=)
c.1266G>C (p.Val422=)
c.1407G>C (p.Val469=)
c.1461G>C (p.Val487=)
c.1257G>C (p.Val419=)
7g.75985596G>TCA456075827PORc.1191G>T (p.Val397=)
c.1317G>T (p.Val439=)
c.1416G>T (p.Val472=)
c.*109-464G>T (n.*109-464G>T)
c.630G>T (p.Val210=)
c.1567G>T
c.*721G>T (n.*721G>T)
n.27G>T
n.790G>T
c.1470G>T (p.Val490=)
c.1266G>T (p.Val422=)
c.1407G>T (p.Val469=)
c.1461G>T (p.Val487=)
c.1257G>T (p.Val419=)
 gnomAD v4
7g.75985597C>ACA367749916PORc.1192C>A (p.His398Asn)
c.1318C>A (p.His440Asn)
c.1417C>A (p.His473Asn)
c.*109-463C>A (n.*109-463C>A)
c.631C>A (p.His211Asn)
c.1568C>A
c.*722C>A (n.*722C>A)
n.28C>A
n.791C>A
c.1471C>A (p.His491Asn)
c.1267C>A (p.His423Asn)
c.1408C>A (p.His470Asn)
c.1462C>A (p.His488Asn)
c.1258C>A (p.His420Asn)
 gnomAD v4
7g.75985597C>GCA367749917PORc.1192C>G (p.His398Asp)
c.1318C>G (p.His440Asp)
c.1417C>G (p.His473Asp)
c.*109-463C>G (n.*109-463C>G)
c.631C>G (p.His211Asp)
c.1568C>G
c.*722C>G (n.*722C>G)
n.28C>G
n.791C>G
c.1471C>G (p.His491Asp)
c.1267C>G (p.His423Asp)
c.1408C>G (p.His470Asp)
c.1462C>G (p.His488Asp)
c.1258C>G (p.His420Asp)
7g.75985597C>TCA367749918PORc.1192C>T (p.His398Tyr)
c.1318C>T (p.His440Tyr)
c.1417C>T (p.His473Tyr)
c.*109-463C>T (n.*109-463C>T)
c.631C>T (p.His211Tyr)
c.1568C>T
c.*722C>T (n.*722C>T)
n.28C>T
n.791C>T
c.1471C>T (p.His491Tyr)
c.1267C>T (p.His423Tyr)
c.1408C>T (p.His470Tyr)
c.1462C>T (p.His488Tyr)
c.1258C>T (p.His420Tyr)
 gnomAD v4
7g.75985598A=CA1718180216PORc.1193A= (p.His398=)
c.1319A= (p.His440=)
c.1418A= (p.His473=)
c.*109-462A= (n.*109-462A=)
c.632A= (p.His211=)
c.1569A=
c.*723A= (n.*723A=)
n.29A=
n.792A=
c.1472A= (p.His491=)
c.1268A= (p.His423=)
c.1409A= (p.His470=)
c.1463A= (p.His488=)
c.1259A= (p.His420=)
7g.75985598A>CCA367749919PORc.1193A>C (p.His398Pro)
c.1319A>C (p.His440Pro)
c.1418A>C (p.His473Pro)
c.*109-462A>C (n.*109-462A>C)
c.632A>C (p.His211Pro)
c.1569A>C
c.*723A>C (n.*723A>C)
n.29A>C
n.792A>C
c.1472A>C (p.His491Pro)
c.1268A>C (p.His423Pro)
c.1409A>C (p.His470Pro)
c.1463A>C (p.His488Pro)
c.1259A>C (p.His420Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.75985598A>GCA367749920PORc.1193A>G (p.His398Arg)
c.1319A>G (p.His440Arg)
c.1418A>G (p.His473Arg)
c.*109-462A>G (n.*109-462A>G)
c.632A>G (p.His211Arg)
c.1569A>G
c.*723A>G (n.*723A>G)
n.29A>G
n.792A>G
c.1472A>G (p.His491Arg)
c.1268A>G (p.His423Arg)
c.1409A>G (p.His470Arg)
c.1463A>G (p.His488Arg)
c.1259A>G (p.His420Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.75985598A>TCA367749921PORc.1193A>T (p.His398Leu)
c.1319A>T (p.His440Leu)
c.1418A>T (p.His473Leu)
c.*109-462A>T (n.*109-462A>T)
c.632A>T (p.His211Leu)
c.1569A>T
c.*723A>T (n.*723A>T)
n.29A>T
n.792A>T
c.1472A>T (p.His491Leu)
c.1268A>T (p.His423Leu)
c.1409A>T (p.His470Leu)
c.1463A>T (p.His488Leu)
c.1259A>T (p.His420Leu)
7g.75985599C>ACA367749922PORc.1194C>A (p.His398Gln)
c.1320C>A (p.His440Gln)
c.1419C>A (p.His473Gln)
c.*109-461C>A (n.*109-461C>A)
c.633C>A (p.His211Gln)
c.1570C>A
c.*724C>A (n.*724C>A)
n.30C>A
n.793C>A
c.1473C>A (p.His491Gln)
c.1269C>A (p.His423Gln)
c.1410C>A (p.His470Gln)
c.1464C>A (p.His488Gln)
c.1260C>A (p.His420Gln)
 gnomAD v4
7g.75985599C>GCA367749923PORc.1194C>G (p.His398Gln)
c.1320C>G (p.His440Gln)
c.1419C>G (p.His473Gln)
c.*109-461C>G (n.*109-461C>G)
c.633C>G (p.His211Gln)
c.1570C>G
c.*724C>G (n.*724C>G)
n.30C>G
n.793C>G
c.1473C>G (p.His491Gln)
c.1269C>G (p.His423Gln)
c.1410C>G (p.His470Gln)
c.1464C>G (p.His488Gln)
c.1260C>G (p.His420Gln)
7g.75985599C>TCA456075838PORc.1194C>T (p.His398=)
c.1320C>T (p.His440=)
c.1419C>T (p.His473=)
c.*109-461C>T (n.*109-461C>T)
c.633C>T (p.His211=)
c.1570C>T
c.*724C>T (n.*724C>T)
n.30C>T
n.793C>T
c.1473C>T (p.His491=)
c.1269C>T (p.His423=)
c.1410C>T (p.His470=)
c.1464C>T (p.His488=)
c.1260C>T (p.His420=)
 ClinVar gnomAD v4
7g.75985600_75985602dupCA2578915433PORc.1195_1197dup (p.Ile399_Cys400insIle)
c.1321_1323dup (p.Ile441_Cys442insIle)
c.1420_1422dup (p.Ile474_Cys475insIle)
c.*109-460_*109-458dup (n.*109-460_*109-458dup)
c.634_636dup (p.Ile212_Cys213insIle)
c.1571_1573dup
c.*725_*727dup (n.*725_*727dup)
n.31_33dup
n.794_796dup
c.1474_1476dup (p.Ile492_Cys493insIle)
c.1270_1272dup (p.Ile424_Cys425insIle)
c.1411_1413dup (p.Ile471_Cys472insIle)
c.1465_1467dup (p.Ile489_Cys490insIle)
c.1261_1263dup (p.Ile421_Cys422insIle)
7g.75985600A>CCA367749926PORc.1195A>C (p.Ile399Leu)
c.1321A>C (p.Ile441Leu)
c.1420A>C (p.Ile474Leu)
c.*109-460A>C (n.*109-460A>C)
c.634A>C (p.Ile212Leu)
c.1571A>C
c.*725A>C (n.*725A>C)
n.31A>C
n.794A>C
c.1474A>C (p.Ile492Leu)
c.1270A>C (p.Ile424Leu)
c.1411A>C (p.Ile471Leu)
c.1465A>C (p.Ile489Leu)
c.1261A>C (p.Ile421Leu)
7g.75985600A>GCA367749925PORc.1195A>G (p.Ile399Val)
c.1321A>G (p.Ile441Val)
c.1420A>G (p.Ile474Val)
c.*109-460A>G (n.*109-460A>G)
c.634A>G (p.Ile212Val)
c.1571A>G
c.*725A>G (n.*725A>G)
n.31A>G
n.794A>G
c.1474A>G (p.Ile492Val)
c.1270A>G (p.Ile424Val)
c.1411A>G (p.Ile471Val)
c.1465A>G (p.Ile489Val)
c.1261A>G (p.Ile421Val)
 gnomAD v4
7g.75985600A>TCA367749924PORc.1195A>T (p.Ile399Phe)
c.1321A>T (p.Ile441Phe)
c.1420A>T (p.Ile474Phe)
c.*109-460A>T (n.*109-460A>T)
c.634A>T (p.Ile212Phe)
c.1571A>T
c.*725A>T (n.*725A>T)
n.31A>T
n.794A>T
c.1474A>T (p.Ile492Phe)
c.1270A>T (p.Ile424Phe)
c.1411A>T (p.Ile471Phe)
c.1465A>T (p.Ile489Phe)
c.1261A>T (p.Ile421Phe)
7g.75985601T>ACA367749927PORc.1196T>A (p.Ile399Asn)
c.1322T>A (p.Ile441Asn)
c.1421T>A (p.Ile474Asn)
c.*109-459T>A (n.*109-459T>A)
c.635T>A (p.Ile212Asn)
c.1572T>A
c.*726T>A (n.*726T>A)
n.32T>A
n.795T>A
c.1475T>A (p.Ile492Asn)
c.1271T>A (p.Ile424Asn)
c.1412T>A (p.Ile471Asn)
c.1466T>A (p.Ile489Asn)
c.1262T>A (p.Ile421Asn)
7g.75985601T>CCA367749929PORc.1196T>C (p.Ile399Thr)
c.1322T>C (p.Ile441Thr)
c.1421T>C (p.Ile474Thr)
c.*109-459T>C (n.*109-459T>C)
c.635T>C (p.Ile212Thr)
c.1572T>C
c.*726T>C (n.*726T>C)
n.32T>C
n.795T>C
c.1475T>C (p.Ile492Thr)
c.1271T>C (p.Ile424Thr)
c.1412T>C (p.Ile471Thr)
c.1466T>C (p.Ile489Thr)
c.1262T>C (p.Ile421Thr)
7g.75985601T>GCA367749928PORc.1196T>G (p.Ile399Ser)
c.1322T>G (p.Ile441Ser)
c.1421T>G (p.Ile474Ser)
c.*109-459T>G (n.*109-459T>G)
c.635T>G (p.Ile212Ser)
c.1572T>G
c.*726T>G (n.*726T>G)
n.32T>G
n.795T>G
c.1475T>G (p.Ile492Ser)
c.1271T>G (p.Ile424Ser)
c.1412T>G (p.Ile471Ser)
c.1466T>G (p.Ile489Ser)
c.1262T>G (p.Ile421Ser)
7g.75985602C>ACA456075846PORc.1197C>A (p.Ile399=)
c.1323C>A (p.Ile441=)
c.1422C>A (p.Ile474=)
c.*109-458C>A (n.*109-458C>A)
c.636C>A (p.Ile212=)
c.1573C>A
c.*727C>A (n.*727C>A)
n.33C>A
n.796C>A
c.1476C>A (p.Ile492=)
c.1272C>A (p.Ile424=)
c.1413C>A (p.Ile471=)
c.1467C>A (p.Ile489=)
c.1263C>A (p.Ile421=)
 gnomAD v4
7g.75985602C>GCA367749930PORc.1197C>G (p.Ile399Met)
c.1323C>G (p.Ile441Met)
c.1422C>G (p.Ile474Met)
c.*109-458C>G (n.*109-458C>G)
c.636C>G (p.Ile212Met)
c.1573C>G
c.*727C>G (n.*727C>G)
n.33C>G
n.796C>G
c.1476C>G (p.Ile492Met)
c.1272C>G (p.Ile424Met)
c.1413C>G (p.Ile471Met)
c.1467C>G (p.Ile489Met)
c.1263C>G (p.Ile421Met)
7g.75985602C>TCA456075844PORc.1197C>T (p.Ile399=)
c.1323C>T (p.Ile441=)
c.1422C>T (p.Ile474=)
c.*109-458C>T (n.*109-458C>T)
c.636C>T (p.Ile212=)
c.1573C>T
c.*727C>T (n.*727C>T)
n.33C>T
n.796C>T
c.1476C>T (p.Ile492=)
c.1272C>T (p.Ile424=)
c.1413C>T (p.Ile471=)
c.1467C>T (p.Ile489=)
c.1263C>T (p.Ile421=)
 gnomAD v4
7g.75985603T>ACA367749931PORc.1198T>A (p.Cys400Ser)
c.1324T>A (p.Cys442Ser)
c.1423T>A (p.Cys475Ser)
c.*109-457T>A (n.*109-457T>A)
c.637T>A (p.Cys213Ser)
c.1574T>A
c.*728T>A (n.*728T>A)
n.34T>A
n.797T>A
c.1477T>A (p.Cys493Ser)
c.1273T>A (p.Cys425Ser)
c.1414T>A (p.Cys472Ser)
c.1468T>A (p.Cys490Ser)
c.1264T>A (p.Cys422Ser)
7g.75985603T>CCA367749932PORc.1198T>C (p.Cys400Arg)
c.1324T>C (p.Cys442Arg)
c.1423T>C (p.Cys475Arg)
c.*109-457T>C (n.*109-457T>C)
c.637T>C (p.Cys213Arg)
c.1574T>C
c.*728T>C (n.*728T>C)
n.34T>C
n.797T>C
c.1477T>C (p.Cys493Arg)
c.1273T>C (p.Cys425Arg)
c.1414T>C (p.Cys472Arg)
c.1468T>C (p.Cys490Arg)
c.1264T>C (p.Cys422Arg)
 gnomAD v4
7g.75985603T>GCA367749933PORc.1198T>G (p.Cys400Gly)
c.1324T>G (p.Cys442Gly)
c.1423T>G (p.Cys475Gly)
c.*109-457T>G (n.*109-457T>G)
c.637T>G (p.Cys213Gly)
c.1574T>G
c.*728T>G (n.*728T>G)
n.34T>G
n.797T>G
c.1477T>G (p.Cys493Gly)
c.1273T>G (p.Cys425Gly)
c.1414T>G (p.Cys472Gly)
c.1468T>G (p.Cys490Gly)
c.1264T>G (p.Cys422Gly)
7g.75985604G>ACA367749934PORc.1199G>A (p.Cys400Tyr)
c.1325G>A (p.Cys442Tyr)
c.1424G>A (p.Cys475Tyr)
c.*109-456G>A (n.*109-456G>A)
c.638G>A (p.Cys213Tyr)
c.1575G>A
c.*729G>A (n.*729G>A)
n.35G>A
n.798G>A
c.1478G>A (p.Cys493Tyr)
c.1274G>A (p.Cys425Tyr)
c.1415G>A (p.Cys472Tyr)
c.1469G>A (p.Cys490Tyr)
c.1265G>A (p.Cys422Tyr)
 gnomAD v4
7g.75985604G>CCA367749935PORc.1199G>C (p.Cys400Ser)
c.1325G>C (p.Cys442Ser)
c.1424G>C (p.Cys475Ser)
c.*109-456G>C (n.*109-456G>C)
c.638G>C (p.Cys213Ser)
c.1575G>C
c.*729G>C (n.*729G>C)
n.35G>C
n.798G>C
c.1478G>C (p.Cys493Ser)
c.1274G>C (p.Cys425Ser)
c.1415G>C (p.Cys472Ser)
c.1469G>C (p.Cys490Ser)
c.1265G>C (p.Cys422Ser)
 dbSNP gnomAD v4
7g.75985604G>TCA367749936PORc.1199G>T (p.Cys400Phe)
c.1325G>T (p.Cys442Phe)
c.1424G>T (p.Cys475Phe)
c.*109-456G>T (n.*109-456G>T)
c.638G>T (p.Cys213Phe)
c.1575G>T
c.*729G>T (n.*729G>T)
n.35G>T
n.798G>T
c.1478G>T (p.Cys493Phe)
c.1274G>T (p.Cys425Phe)
c.1415G>T (p.Cys472Phe)
c.1469G>T (p.Cys490Phe)
c.1265G>T (p.Cys422Phe)
 gnomAD v4
7g.75985605T>ACA367749937PORc.1200T>A (p.Cys400Ter)
c.1326T>A (p.Cys442Ter)
c.1425T>A (p.Cys475Ter)
c.*109-455T>A (n.*109-455T>A)
c.639T>A (p.Cys213Ter)
c.1576T>A
c.*730T>A (n.*730T>A)
n.36T>A
n.799T>A
c.1479T>A (p.Cys493Ter)
c.1275T>A (p.Cys425Ter)
c.1416T>A (p.Cys472Ter)
c.1470T>A (p.Cys490Ter)
c.1266T>A (p.Cys422Ter)
7g.75985605T>CCA456075851PORc.1200T>C (p.Cys400=)
c.1326T>C (p.Cys442=)
c.1425T>C (p.Cys475=)
c.*109-455T>C (n.*109-455T>C)
c.639T>C (p.Cys213=)
c.1576T>C
c.*730T>C (n.*730T>C)
n.36T>C
n.799T>C
c.1479T>C (p.Cys493=)
c.1275T>C (p.Cys425=)
c.1416T>C (p.Cys472=)
c.1470T>C (p.Cys490=)
c.1266T>C (p.Cys422=)
 dbSNP gnomAD v2 gnomAD v4
7g.75985605T>GCA367749938PORc.1200T>G (p.Cys400Trp)
c.1326T>G (p.Cys442Trp)
c.1425T>G (p.Cys475Trp)
c.*109-455T>G (n.*109-455T>G)
c.639T>G (p.Cys213Trp)
c.1576T>G
c.*730T>G (n.*730T>G)
n.36T>G
n.799T>G
c.1479T>G (p.Cys493Trp)
c.1275T>G (p.Cys425Trp)
c.1416T>G (p.Cys472Trp)
c.1470T>G (p.Cys490Trp)
c.1266T>G (p.Cys422Trp)
7g.75985605T=CA1718180217PORc.1200T= (p.Cys400=)
c.1326T= (p.Cys442=)
c.1425T= (p.Cys475=)
c.*109-455T= (n.*109-455T=)
c.639T= (p.Cys213=)
c.1576T=
c.*730T= (n.*730T=)
n.36T=
n.799T=
c.1479T= (p.Cys493=)
c.1275T= (p.Cys425=)
c.1416T= (p.Cys472=)
c.1470T= (p.Cys490=)
c.1266T= (p.Cys422=)
7g.75985606G>ACA367749939PORc.1201G>A (p.Ala401Thr)
c.1327G>A (p.Ala443Thr)
c.1426G>A (p.Ala476Thr)
c.*109-454G>A (n.*109-454G>A)
c.640G>A (p.Ala214Thr)
c.1577G>A
c.*731G>A (n.*731G>A)
n.37G>A
n.800G>A
c.1480G>A (p.Ala494Thr)
c.1276G>A (p.Ala426Thr)
c.1417G>A (p.Ala473Thr)
c.1471G>A (p.Ala491Thr)
c.1267G>A (p.Ala423Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.75985606G>CCA367749940PORc.1201G>C (p.Ala401Pro)
c.1327G>C (p.Ala443Pro)
c.1426G>C (p.Ala476Pro)
c.*109-454G>C (n.*109-454G>C)
c.640G>C (p.Ala214Pro)
c.1577G>C
c.*731G>C (n.*731G>C)
n.37G>C
n.800G>C
c.1480G>C (p.Ala494Pro)
c.1276G>C (p.Ala426Pro)
c.1417G>C (p.Ala473Pro)
c.1471G>C (p.Ala491Pro)
c.1267G>C (p.Ala423Pro)
7g.75985606G=CA1718180218PORc.1201G= (p.Ala401=)
c.1327G= (p.Ala443=)
c.1426G= (p.Ala476=)
c.*109-454G= (n.*109-454G=)
c.640G= (p.Ala214=)
c.1577G=
c.*731G= (n.*731G=)
n.37G=
n.800G=
c.1480G= (p.Ala494=)
c.1276G= (p.Ala426=)
c.1417G= (p.Ala473=)
c.1471G= (p.Ala491=)
c.1267G= (p.Ala423=)
7g.75985606G>TCA367749941PORc.1201G>T (p.Ala401Ser)
c.1327G>T (p.Ala443Ser)
c.1426G>T (p.Ala476Ser)
c.*109-454G>T (n.*109-454G>T)
c.640G>T (p.Ala214Ser)
c.1577G>T
c.*731G>T (n.*731G>T)
n.37G>T
n.800G>T
c.1480G>T (p.Ala494Ser)
c.1276G>T (p.Ala426Ser)
c.1417G>T (p.Ala473Ser)
c.1471G>T (p.Ala491Ser)
c.1267G>T (p.Ala423Ser)
 gnomAD v4
7g.75985607C>ACA367749942PORc.1202C>A (p.Ala401Glu)
c.1328C>A (p.Ala443Glu)
c.1427C>A (p.Ala476Glu)
c.*109-453C>A (n.*109-453C>A)
c.641C>A (p.Ala214Glu)
c.1578C>A
c.*732C>A (n.*732C>A)
n.38C>A
n.801C>A
c.1481C>A (p.Ala494Glu)
c.1277C>A (p.Ala426Glu)
c.1418C>A (p.Ala473Glu)
c.1472C>A (p.Ala491Glu)
c.1268C>A (p.Ala423Glu)
 gnomAD v4
7g.75985607C=CA1718180219PORc.1202C= (p.Ala401=)
c.1328C= (p.Ala443=)
c.1427C= (p.Ala476=)
c.*109-453C= (n.*109-453C=)
c.641C= (p.Ala214=)
c.1578C=
c.*732C= (n.*732C=)
n.38C=
n.801C=
c.1481C= (p.Ala494=)
c.1277C= (p.Ala426=)
c.1418C= (p.Ala473=)
c.1472C= (p.Ala491=)
c.1268C= (p.Ala423=)
7g.75985607C>GCA367749943PORc.1202C>G (p.Ala401Gly)
c.1328C>G (p.Ala443Gly)
c.1427C>G (p.Ala476Gly)
c.*109-453C>G (n.*109-453C>G)
c.641C>G (p.Ala214Gly)
c.1578C>G
c.*732C>G (n.*732C>G)
n.38C>G
n.801C>G
c.1481C>G (p.Ala494Gly)
c.1277C>G (p.Ala426Gly)
c.1418C>G (p.Ala473Gly)
c.1472C>G (p.Ala491Gly)
c.1268C>G (p.Ala423Gly)
7g.75985607C>TCA4304137PORc.1202C>T (p.Ala401Val)
c.1328C>T (p.Ala443Val)
c.1427C>T (p.Ala476Val)
c.*109-453C>T (n.*109-453C>T)
c.641C>T (p.Ala214Val)
c.1578C>T
c.*732C>T (n.*732C>T)
n.38C>T
n.801C>T
c.1481C>T (p.Ala494Val)
c.1277C>T (p.Ala426Val)
c.1418C>T (p.Ala473Val)
c.1472C>T (p.Ala491Val)
c.1268C>T (p.Ala423Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.75985608G>ACA4304138PORc.1203G>A (p.Ala401=)
c.1329G>A (p.Ala443=)
c.1428G>A (p.Ala476=)
c.*109-452G>A (n.*109-452G>A)
c.642G>A (p.Ala214=)
c.1579G>A
c.*733G>A (n.*733G>A)
n.39G>A
n.802G>A
c.1482G>A (p.Ala494=)
c.1278G>A (p.Ala426=)
c.1419G>A (p.Ala473=)
c.1473G>A (p.Ala491=)
c.1269G>A (p.Ala423=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985608G>CCA456075864PORc.1203G>C (p.Ala401=)
c.1329G>C (p.Ala443=)
c.1428G>C (p.Ala476=)
c.*109-452G>C (n.*109-452G>C)
c.642G>C (p.Ala214=)
c.1579G>C
c.*733G>C (n.*733G>C)
n.39G>C
n.802G>C
c.1482G>C (p.Ala494=)
c.1278G>C (p.Ala426=)
c.1419G>C (p.Ala473=)
c.1473G>C (p.Ala491=)
c.1269G>C (p.Ala423=)
7g.75985608G=CA1718180220PORc.1203G= (p.Ala401=)
c.1329G= (p.Ala443=)
c.1428G= (p.Ala476=)
c.*109-452G= (n.*109-452G=)
c.642G= (p.Ala214=)
c.1579G=
c.*733G= (n.*733G=)
n.39G=
n.802G=
c.1482G= (p.Ala494=)
c.1278G= (p.Ala426=)
c.1419G= (p.Ala473=)
c.1473G= (p.Ala491=)
c.1269G= (p.Ala423=)
7g.75985608G>TCA456075866PORc.1203G>T (p.Ala401=)
c.1329G>T (p.Ala443=)
c.1428G>T (p.Ala476=)
c.*109-452G>T (n.*109-452G>T)
c.642G>T (p.Ala214=)
c.1579G>T
c.*733G>T (n.*733G>T)
n.39G>T
n.802G>T
c.1482G>T (p.Ala494=)
c.1278G>T (p.Ala426=)
c.1419G>T (p.Ala473=)
c.1473G>T (p.Ala491=)
c.1269G>T (p.Ala423=)
 gnomAD v4
7g.75985609G>ACA367749944PORc.1204G>A (p.Val402Met)
c.1330G>A (p.Val444Met)
c.1429G>A (p.Val477Met)
c.*109-451G>A (n.*109-451G>A)
c.643G>A (p.Val215Met)
c.1580G>A
c.*734G>A (n.*734G>A)
n.40G>A
n.803G>A
c.1483G>A (p.Val495Met)
c.1279G>A (p.Val427Met)
c.1420G>A (p.Val474Met)
c.1474G>A (p.Val492Met)
c.1270G>A (p.Val424Met)
 gnomAD v4
7g.75985609G>CCA367749945PORc.1204G>C (p.Val402Leu)
c.1330G>C (p.Val444Leu)
c.1429G>C (p.Val477Leu)
c.*109-451G>C (n.*109-451G>C)
c.643G>C (p.Val215Leu)
c.1580G>C
c.*734G>C (n.*734G>C)
n.40G>C
n.803G>C
c.1483G>C (p.Val495Leu)
c.1279G>C (p.Val427Leu)
c.1420G>C (p.Val474Leu)
c.1474G>C (p.Val492Leu)
c.1270G>C (p.Val424Leu)
7g.75985609G=CA1718180221PORc.1204G= (p.Val402=)
c.1330G= (p.Val444=)
c.1429G= (p.Val477=)
c.*109-451G= (n.*109-451G=)
c.643G= (p.Val215=)
c.1580G=
c.*734G= (n.*734G=)
n.40G=
n.803G=
c.1483G= (p.Val495=)
c.1279G= (p.Val427=)
c.1420G= (p.Val474=)
c.1474G= (p.Val492=)
c.1270G= (p.Val424=)
7g.75985609G>TCA367749946PORc.1204G>T (p.Val402Leu)
c.1330G>T (p.Val444Leu)
c.1429G>T (p.Val477Leu)
c.*109-451G>T (n.*109-451G>T)
c.643G>T (p.Val215Leu)
c.1580G>T
c.*734G>T (n.*734G>T)
n.40G>T
n.803G>T
c.1483G>T (p.Val495Leu)
c.1279G>T (p.Val427Leu)
c.1420G>T (p.Val474Leu)
c.1474G>T (p.Val492Leu)
c.1270G>T (p.Val424Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985610T>ACA367749947PORc.1205T>A (p.Val402Glu)
c.1331T>A (p.Val444Glu)
c.1430T>A (p.Val477Glu)
c.*109-450T>A (n.*109-450T>A)
c.644T>A (p.Val215Glu)
c.1581T>A
c.*735T>A (n.*735T>A)
n.41T>A
n.804T>A
c.1484T>A (p.Val495Glu)
c.1280T>A (p.Val427Glu)
c.1421T>A (p.Val474Glu)
c.1475T>A (p.Val492Glu)
c.1271T>A (p.Val424Glu)
7g.75985610T>CCA367749948PORc.1205T>C (p.Val402Ala)
c.1331T>C (p.Val444Ala)
c.1430T>C (p.Val477Ala)
c.*109-450T>C (n.*109-450T>C)
c.644T>C (p.Val215Ala)
c.1581T>C
c.*735T>C (n.*735T>C)
n.41T>C
n.804T>C
c.1484T>C (p.Val495Ala)
c.1280T>C (p.Val427Ala)
c.1421T>C (p.Val474Ala)
c.1475T>C (p.Val492Ala)
c.1271T>C (p.Val424Ala)
7g.75985610T>GCA4304139PORc.1205T>G (p.Val402Gly)
c.1331T>G (p.Val444Gly)
c.1430T>G (p.Val477Gly)
c.*109-450T>G (n.*109-450T>G)
c.644T>G (p.Val215Gly)
c.1581T>G
c.*735T>G (n.*735T>G)
n.41T>G
n.804T>G
c.1484T>G (p.Val495Gly)
c.1280T>G (p.Val427Gly)
c.1421T>G (p.Val474Gly)
c.1475T>G (p.Val492Gly)
c.1271T>G (p.Val424Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985610T=CA1718180222PORc.1205T= (p.Val402=)
c.1331T= (p.Val444=)
c.1430T= (p.Val477=)
c.*109-450T= (n.*109-450T=)
c.644T= (p.Val215=)
c.1581T=
c.*735T= (n.*735T=)
n.41T=
n.804T=
c.1484T= (p.Val495=)
c.1280T= (p.Val427=)
c.1421T= (p.Val474=)
c.1475T= (p.Val492=)
c.1271T= (p.Val424=)
7g.75985611G>ACA456075874PORc.1206G>A (p.Val402=)
c.1332G>A (p.Val444=)
c.1431G>A (p.Val477=)
c.*109-449G>A (n.*109-449G>A)
c.645G>A (p.Val215=)
c.1582G>A
c.*736G>A (n.*736G>A)
n.42G>A
n.805G>A
c.1485G>A (p.Val495=)
c.1281G>A (p.Val427=)
c.1422G>A (p.Val474=)
c.1476G>A (p.Val492=)
c.1272G>A (p.Val424=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985611G>CCA456075875PORc.1206G>C (p.Val402=)
c.1332G>C (p.Val444=)
c.1431G>C (p.Val477=)
c.*109-449G>C (n.*109-449G>C)
c.645G>C (p.Val215=)
c.1582G>C
c.*736G>C (n.*736G>C)
n.42G>C
n.805G>C
c.1485G>C (p.Val495=)
c.1281G>C (p.Val427=)
c.1422G>C (p.Val474=)
c.1476G>C (p.Val492=)
c.1272G>C (p.Val424=)
 ClinVar dbSNP
7g.75985611G=CA1718180223PORc.1206G= (p.Val402=)
c.1332G= (p.Val444=)
c.1431G= (p.Val477=)
c.*109-449G= (n.*109-449G=)
c.645G= (p.Val215=)
c.1582G=
c.*736G= (n.*736G=)
n.42G=
n.805G=
c.1485G= (p.Val495=)
c.1281G= (p.Val427=)
c.1422G= (p.Val474=)
c.1476G= (p.Val492=)
c.1272G= (p.Val424=)
7g.75985611G>TCA456075877PORc.1206G>T (p.Val402=)
c.1332G>T (p.Val444=)
c.1431G>T (p.Val477=)
c.*109-449G>T (n.*109-449G>T)
c.645G>T (p.Val215=)
c.1582G>T
c.*736G>T (n.*736G>T)
n.42G>T
n.805G>T
c.1485G>T (p.Val495=)
c.1281G>T (p.Val427=)
c.1422G>T (p.Val474=)
c.1476G>T (p.Val492=)
c.1272G>T (p.Val424=)
7g.75985612G>ACA367749949PORc.1207G>A (p.Val403Ile)
c.1333G>A (p.Val445Ile)
c.1432G>A (p.Val478Ile)
c.*109-448G>A (n.*109-448G>A)
c.646G>A (p.Val216Ile)
c.1583G>A
c.*737G>A (n.*737G>A)
n.43G>A
n.806G>A
c.1486G>A (p.Val496Ile)
c.1282G>A (p.Val428Ile)
c.1423G>A (p.Val475Ile)
c.1477G>A (p.Val493Ile)
c.1273G>A (p.Val425Ile)
 gnomAD v4
7g.75985612G>CCA367749950PORc.1207G>C (p.Val403Leu)
c.1333G>C (p.Val445Leu)
c.1432G>C (p.Val478Leu)
c.*109-448G>C (n.*109-448G>C)
c.646G>C (p.Val216Leu)
c.1583G>C
c.*737G>C (n.*737G>C)
n.43G>C
n.806G>C
c.1486G>C (p.Val496Leu)
c.1282G>C (p.Val428Leu)
c.1423G>C (p.Val475Leu)
c.1477G>C (p.Val493Leu)
c.1273G>C (p.Val425Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.75985612G=CA1718180224PORc.1207G= (p.Val403=)
c.1333G= (p.Val445=)
c.1432G= (p.Val478=)
c.*109-448G= (n.*109-448G=)
c.646G= (p.Val216=)
c.1583G=
c.*737G= (n.*737G=)
n.43G=
n.806G=
c.1486G= (p.Val496=)
c.1282G= (p.Val428=)
c.1423G= (p.Val475=)
c.1477G= (p.Val493=)
c.1273G= (p.Val425=)
7g.75985612G>TCA367749951PORc.1207G>T (p.Val403Phe)
c.1333G>T (p.Val445Phe)
c.1432G>T (p.Val478Phe)
c.*109-448G>T (n.*109-448G>T)
c.646G>T (p.Val216Phe)
c.1583G>T
c.*737G>T (n.*737G>T)
n.43G>T
n.806G>T
c.1486G>T (p.Val496Phe)
c.1282G>T (p.Val428Phe)
c.1423G>T (p.Val475Phe)
c.1477G>T (p.Val493Phe)
c.1273G>T (p.Val425Phe)
 gnomAD v4
7g.75985613T>ACA367749953PORc.1208T>A (p.Val403Asp)
c.1334T>A (p.Val445Asp)
c.1433T>A (p.Val478Asp)
c.*109-447T>A (n.*109-447T>A)
c.647T>A (p.Val216Asp)
c.1584T>A
c.*738T>A (n.*738T>A)
n.44T>A
n.807T>A
c.1487T>A (p.Val496Asp)
c.1283T>A (p.Val428Asp)
c.1424T>A (p.Val475Asp)
c.1478T>A (p.Val493Asp)
c.1274T>A (p.Val425Asp)
7g.75985613T>CCA367749954PORc.1208T>C (p.Val403Ala)
c.1334T>C (p.Val445Ala)
c.1433T>C (p.Val478Ala)
c.*109-447T>C (n.*109-447T>C)
c.647T>C (p.Val216Ala)
c.1584T>C
c.*738T>C (n.*738T>C)
n.44T>C
n.807T>C
c.1487T>C (p.Val496Ala)
c.1283T>C (p.Val428Ala)
c.1424T>C (p.Val475Ala)
c.1478T>C (p.Val493Ala)
c.1274T>C (p.Val425Ala)
 gnomAD v4
7g.75985613T>GCA367749952PORc.1208T>G (p.Val403Gly)
c.1334T>G (p.Val445Gly)
c.1433T>G (p.Val478Gly)
c.*109-447T>G (n.*109-447T>G)
c.647T>G (p.Val216Gly)
c.1584T>G
c.*738T>G (n.*738T>G)
n.44T>G
n.807T>G
c.1487T>G (p.Val496Gly)
c.1283T>G (p.Val428Gly)
c.1424T>G (p.Val475Gly)
c.1478T>G (p.Val493Gly)
c.1274T>G (p.Val425Gly)
7g.75985614delCA2683383843PORc.1209del (p.Val404TrpfsTer?)
c.1335del (p.Val446TrpfsTer?)
c.1434del (p.Val479TrpfsTer?)
c.*109-446del (n.*109-446del)
c.648del (p.Val217TrpfsTer?)
c.1585del
c.*739del (n.*739del)
n.45del
n.808del
c.1488del (p.Val497TrpfsTer?)
c.1284del (p.Val429TrpfsTer?)
c.1425del (p.Val476TrpfsTer?)
c.1479del (p.Val494TrpfsTer?)
c.1275del (p.Val426TrpfsTer?)
 gnomAD v4
7g.75985614T>ACA456075885PORc.1209T>A (p.Val403=)
c.1335T>A (p.Val445=)
c.1434T>A (p.Val478=)
c.*109-446T>A (n.*109-446T>A)
c.648T>A (p.Val216=)
c.1585T>A
c.*739T>A (n.*739T>A)
n.45T>A
n.808T>A
c.1488T>A (p.Val496=)
c.1284T>A (p.Val428=)
c.1425T>A (p.Val475=)
c.1479T>A (p.Val493=)
c.1275T>A (p.Val425=)
7g.75985614T>CCA456075886PORc.1209T>C (p.Val403=)
c.1335T>C (p.Val445=)
c.1434T>C (p.Val478=)
c.*109-446T>C (n.*109-446T>C)
c.648T>C (p.Val216=)
c.1585T>C
c.*739T>C (n.*739T>C)
n.45T>C
n.808T>C
c.1488T>C (p.Val496=)
c.1284T>C (p.Val428=)
c.1425T>C (p.Val475=)
c.1479T>C (p.Val493=)
c.1275T>C (p.Val425=)
7g.75985614T>GCA456075888PORc.1209T>G (p.Val403=)
c.1335T>G (p.Val445=)
c.1434T>G (p.Val478=)
c.*109-446T>G (n.*109-446T>G)
c.648T>G (p.Val216=)
c.1585T>G
c.*739T>G (n.*739T>G)
n.45T>G
n.808T>G
c.1488T>G (p.Val496=)
c.1284T>G (p.Val428=)
c.1425T>G (p.Val475=)
c.1479T>G (p.Val493=)
c.1275T>G (p.Val425=)
 gnomAD v4
7g.75985615delCA2683383877PORc.1210del (p.Val404TrpfsTer?)
c.1336del (p.Val446TrpfsTer?)
c.1435del (p.Val479TrpfsTer?)
c.*109-445del (n.*109-445del)
c.649del (p.Val217TrpfsTer?)
c.1586del
c.*740del (n.*740del)
n.46del
n.809del
c.1489del (p.Val497TrpfsTer?)
c.1285del (p.Val429TrpfsTer?)
c.1426del (p.Val476TrpfsTer?)
c.1480del (p.Val494TrpfsTer?)
c.1276del (p.Val426TrpfsTer?)
 gnomAD v4
7g.75985615G>ACA367749955PORc.1210G>A (p.Val404Met)
c.1336G>A (p.Val446Met)
c.1435G>A (p.Val479Met)
c.*109-445G>A (n.*109-445G>A)
c.649G>A (p.Val217Met)
c.1586G>A
c.*740G>A (n.*740G>A)
n.46G>A
n.809G>A
c.1489G>A (p.Val497Met)
c.1285G>A (p.Val429Met)
c.1426G>A (p.Val476Met)
c.1480G>A (p.Val494Met)
c.1276G>A (p.Val426Met)
 gnomAD v4
7g.75985615G>CCA367749956PORc.1210G>C (p.Val404Leu)
c.1336G>C (p.Val446Leu)
c.1435G>C (p.Val479Leu)
c.*109-445G>C (n.*109-445G>C)
c.649G>C (p.Val217Leu)
c.1586G>C
c.*740G>C (n.*740G>C)
n.46G>C
n.809G>C
c.1489G>C (p.Val497Leu)
c.1285G>C (p.Val429Leu)
c.1426G>C (p.Val476Leu)
c.1480G>C (p.Val494Leu)
c.1276G>C (p.Val426Leu)
7g.75985615G>TCA367749957PORc.1210G>T (p.Val404Leu)
c.1336G>T (p.Val446Leu)
c.1435G>T (p.Val479Leu)
c.*109-445G>T (n.*109-445G>T)
c.649G>T (p.Val217Leu)
c.1586G>T
c.*740G>T (n.*740G>T)
n.46G>T
n.809G>T
c.1489G>T (p.Val497Leu)
c.1285G>T (p.Val429Leu)
c.1426G>T (p.Val476Leu)
c.1480G>T (p.Val494Leu)
c.1276G>T (p.Val426Leu)
 gnomAD v4
7g.75985616T>ACA367749958PORc.1211T>A (p.Val404Glu)
c.1337T>A (p.Val446Glu)
c.1436T>A (p.Val479Glu)
c.*109-444T>A (n.*109-444T>A)
c.650T>A (p.Val217Glu)
c.1587T>A
c.*741T>A (n.*741T>A)
n.47T>A
n.810T>A
c.1490T>A (p.Val497Glu)
c.1286T>A (p.Val429Glu)
c.1427T>A (p.Val476Glu)
c.1481T>A (p.Val494Glu)
c.1277T>A (p.Val426Glu)
 gnomAD v4
7g.75985616T>CCA367749959PORc.1211T>C (p.Val404Ala)
c.1337T>C (p.Val446Ala)
c.1436T>C (p.Val479Ala)
c.*109-444T>C (n.*109-444T>C)
c.650T>C (p.Val217Ala)
c.1587T>C
c.*741T>C (n.*741T>C)
n.47T>C
n.810T>C
c.1490T>C (p.Val497Ala)
c.1286T>C (p.Val429Ala)
c.1427T>C (p.Val476Ala)
c.1481T>C (p.Val494Ala)
c.1277T>C (p.Val426Ala)
 gnomAD v4
7g.75985616T>GCA367749960PORc.1211T>G (p.Val404Gly)
c.1337T>G (p.Val446Gly)
c.1436T>G (p.Val479Gly)
c.*109-444T>G (n.*109-444T>G)
c.650T>G (p.Val217Gly)
c.1587T>G
c.*741T>G (n.*741T>G)
n.47T>G
n.810T>G
c.1490T>G (p.Val497Gly)
c.1286T>G (p.Val429Gly)
c.1427T>G (p.Val476Gly)
c.1481T>G (p.Val494Gly)
c.1277T>G (p.Val426Gly)
7g.75985617G>ACA4304140PORc.1212G>A (p.Val404=)
c.1338G>A (p.Val446=)
c.1437G>A (p.Val479=)
c.*109-443G>A (n.*109-443G>A)
c.651G>A (p.Val217=)
c.1588G>A
c.*742G>A (n.*742G>A)
n.48G>A
n.811G>A
c.1491G>A (p.Val497=)
c.1287G>A (p.Val429=)
c.1428G>A (p.Val476=)
c.1482G>A (p.Val494=)
c.1278G>A (p.Val426=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985617G>CCA456075896PORc.1212G>C (p.Val404=)
c.1338G>C (p.Val446=)
c.1437G>C (p.Val479=)
c.*109-443G>C (n.*109-443G>C)
c.651G>C (p.Val217=)
c.1588G>C
c.*742G>C (n.*742G>C)
n.48G>C
n.811G>C
c.1491G>C (p.Val497=)
c.1287G>C (p.Val429=)
c.1428G>C (p.Val476=)
c.1482G>C (p.Val494=)
c.1278G>C (p.Val426=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.75985617G=CA1718180226PORc.1212G= (p.Val404=)
c.1338G= (p.Val446=)
c.1437G= (p.Val479=)
c.*109-443G= (n.*109-443G=)
c.651G= (p.Val217=)
c.1588G=
c.*742G= (n.*742G=)
n.48G=
n.811G=
c.1491G= (p.Val497=)
c.1287G= (p.Val429=)
c.1428G= (p.Val476=)
c.1482G= (p.Val494=)
c.1278G= (p.Val426=)
7g.75985617G>TCA456075898PORc.1212G>T (p.Val404=)
c.1338G>T (p.Val446=)
c.1437G>T (p.Val479=)
c.*109-443G>T (n.*109-443G>T)
c.651G>T (p.Val217=)
c.1588G>T
c.*742G>T (n.*742G>T)
n.48G>T
n.811G>T
c.1491G>T (p.Val497=)
c.1287G>T (p.Val429=)
c.1428G>T (p.Val476=)
c.1482G>T (p.Val494=)
c.1278G>T (p.Val426=)
 gnomAD v4
7g.75985617_75985623delinsGGAGTACCA1718180225PORc.1212_1218delinsGGAGTAC (p.Val404=)
c.1338_1344delinsGGAGTAC (p.Val446=)
c.1437_1443delinsGGAGTAC (p.Val479=)
c.*109-443_*109-437delinsGGAGTAC (n.*109-443_*109-437delinsGGAGTAC)
c.651_657delinsGGAGTAC (p.Val217=)
c.1588_1594delinsGGAGTAC
c.*742_*748delinsGGAGTAC (n.*742_*748delinsGGAGTAC)
n.48_54delinsGGAGTAC
n.811_817delinsGGAGTAC
c.1491_1497delinsGGAGTAC (p.Val497=)
c.1287_1293delinsGGAGTAC (p.Val429=)
c.1428_1434delinsGGAGTAC (p.Val476=)
c.1482_1488delinsGGAGTAC (p.Val494=)
c.1278_1284delinsGGAGTAC (p.Val426=)
7g.75985618G>ACA4304141PORc.1213G>A (p.Glu405Lys)
c.1339G>A (p.Glu447Lys)
c.1438G>A (p.Glu480Lys)
c.*109-442G>A (n.*109-442G>A)
c.652G>A (p.Glu218Lys)
c.1589G>A
c.*743G>A (n.*743G>A)
n.49G>A
n.812G>A
c.1492G>A (p.Glu498Lys)
c.1288G>A (p.Glu430Lys)
c.1429G>A (p.Glu477Lys)
c.1483G>A (p.Glu495Lys)
c.1279G>A (p.Glu427Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985618G>CCA367749961PORc.1213G>C (p.Glu405Gln)
c.1339G>C (p.Glu447Gln)
c.1438G>C (p.Glu480Gln)
c.*109-442G>C (n.*109-442G>C)
c.652G>C (p.Glu218Gln)
c.1589G>C
c.*743G>C (n.*743G>C)
n.49G>C
n.812G>C
c.1492G>C (p.Glu498Gln)
c.1288G>C (p.Glu430Gln)
c.1429G>C (p.Glu477Gln)
c.1483G>C (p.Glu495Gln)
c.1279G>C (p.Glu427Gln)
7g.75985618G=CA1718180227PORc.1213G= (p.Glu405=)
c.1339G= (p.Glu447=)
c.1438G= (p.Glu480=)
c.*109-442G= (n.*109-442G=)
c.652G= (p.Glu218=)
c.1589G=
c.*743G= (n.*743G=)
n.49G=
n.812G=
c.1492G= (p.Glu498=)
c.1288G= (p.Glu430=)
c.1429G= (p.Glu477=)
c.1483G= (p.Glu495=)
c.1279G= (p.Glu427=)
7g.75985618G>TCA367749962PORc.1213G>T (p.Glu405Ter)
c.1339G>T (p.Glu447Ter)
c.1438G>T (p.Glu480Ter)
c.*109-442G>T (n.*109-442G>T)
c.652G>T (p.Glu218Ter)
c.1589G>T
c.*743G>T (n.*743G>T)
n.49G>T
n.812G>T
c.1492G>T (p.Glu498Ter)
c.1288G>T (p.Glu430Ter)
c.1429G>T (p.Glu477Ter)
c.1483G>T (p.Glu495Ter)
c.1279G>T (p.Glu427Ter)
 gnomAD v4
7g.75985621_75985626delCA842282770PORc.1216_1221del (p.Tyr406_Glu407del)
c.1342_1347del (p.Tyr448_Glu449del)
c.1441_1446del (p.Tyr481_Glu482del)
c.*109-439_*109-434del (n.*109-439_*109-434del)
c.655_660del (p.Tyr219_Glu220del)
c.1592_1597del
c.*746_*751del (n.*746_*751del)
n.52_57del
n.815_820del
c.1495_1500del (p.Tyr499_Glu500del)
c.1291_1296del (p.Tyr431_Glu432del)
c.1432_1437del (p.Tyr478_Glu479del)
c.1486_1491del (p.Tyr496_Glu497del)
c.1282_1287del (p.Tyr428_Glu429del)
 dbSNP gnomAD v3 gnomAD v4
7g.75985619A>CCA367749963PORc.1214A>C (p.Glu405Ala)
c.1340A>C (p.Glu447Ala)
c.1439A>C (p.Glu480Ala)
c.*109-441A>C (n.*109-441A>C)
c.653A>C (p.Glu218Ala)
c.1590A>C
c.*744A>C (n.*744A>C)
n.50A>C
n.813A>C
c.1493A>C (p.Glu498Ala)
c.1289A>C (p.Glu430Ala)
c.1430A>C (p.Glu477Ala)
c.1484A>C (p.Glu495Ala)
c.1280A>C (p.Glu427Ala)
7g.75985619A>GCA367749964PORc.1214A>G (p.Glu405Gly)
c.1340A>G (p.Glu447Gly)
c.1439A>G (p.Glu480Gly)
c.*109-441A>G (n.*109-441A>G)
c.653A>G (p.Glu218Gly)
c.1590A>G
c.*744A>G (n.*744A>G)
n.50A>G
n.813A>G
c.1493A>G (p.Glu498Gly)
c.1289A>G (p.Glu430Gly)
c.1430A>G (p.Glu477Gly)
c.1484A>G (p.Glu495Gly)
c.1280A>G (p.Glu427Gly)
 gnomAD v4
7g.75985619A>TCA367749965PORc.1214A>T (p.Glu405Val)
c.1340A>T (p.Glu447Val)
c.1439A>T (p.Glu480Val)
c.*109-441A>T (n.*109-441A>T)
c.653A>T (p.Glu218Val)
c.1590A>T
c.*744A>T (n.*744A>T)
n.50A>T
n.813A>T
c.1493A>T (p.Glu498Val)
c.1289A>T (p.Glu430Val)
c.1430A>T (p.Glu477Val)
c.1484A>T (p.Glu495Val)
c.1280A>T (p.Glu427Val)
7g.75985620G>ACA456075908PORc.1215G>A (p.Glu405=)
c.1341G>A (p.Glu447=)
c.1440G>A (p.Glu480=)
c.*109-440G>A (n.*109-440G>A)
c.654G>A (p.Glu218=)
c.1591G>A
c.*745G>A (n.*745G>A)
n.51G>A
n.814G>A
c.1494G>A (p.Glu498=)
c.1290G>A (p.Glu430=)
c.1431G>A (p.Glu477=)
c.1485G>A (p.Glu495=)
c.1281G>A (p.Glu427=)
 gnomAD v4
7g.75985620G>CCA367749967PORc.1215G>C (p.Glu405Asp)
c.1341G>C (p.Glu447Asp)
c.1440G>C (p.Glu480Asp)
c.*109-440G>C (n.*109-440G>C)
c.654G>C (p.Glu218Asp)
c.1591G>C
c.*745G>C (n.*745G>C)
n.51G>C
n.814G>C
c.1494G>C (p.Glu498Asp)
c.1290G>C (p.Glu430Asp)
c.1431G>C (p.Glu477Asp)
c.1485G>C (p.Glu495Asp)
c.1281G>C (p.Glu427Asp)
7g.75985620G>TCA367749966PORc.1215G>T (p.Glu405Asp)
c.1341G>T (p.Glu447Asp)
c.1440G>T (p.Glu480Asp)
c.*109-440G>T (n.*109-440G>T)
c.654G>T (p.Glu218Asp)
c.1591G>T
c.*745G>T (n.*745G>T)
n.51G>T
n.814G>T
c.1494G>T (p.Glu498Asp)
c.1290G>T (p.Glu430Asp)
c.1431G>T (p.Glu477Asp)
c.1485G>T (p.Glu495Asp)
c.1281G>T (p.Glu427Asp)
 gnomAD v4
7g.75985621T>ACA367749968PORc.1216T>A (p.Tyr406Asn)
c.1342T>A (p.Tyr448Asn)
c.1441T>A (p.Tyr481Asn)
c.*109-439T>A (n.*109-439T>A)
c.655T>A (p.Tyr219Asn)
c.1592T>A
c.*746T>A (n.*746T>A)
n.52T>A
n.815T>A
c.1495T>A (p.Tyr499Asn)
c.1291T>A (p.Tyr431Asn)
c.1432T>A (p.Tyr478Asn)
c.1486T>A (p.Tyr496Asn)
c.1282T>A (p.Tyr428Asn)
7g.75985621T>CCA367749969PORc.1216T>C (p.Tyr406His)
c.1342T>C (p.Tyr448His)
c.1441T>C (p.Tyr481His)
c.*109-439T>C (n.*109-439T>C)
c.655T>C (p.Tyr219His)
c.1592T>C
c.*746T>C (n.*746T>C)
n.52T>C
n.815T>C
c.1495T>C (p.Tyr499His)
c.1291T>C (p.Tyr431His)
c.1432T>C (p.Tyr478His)
c.1486T>C (p.Tyr496His)
c.1282T>C (p.Tyr428His)
 dbSNP gnomAD v2 gnomAD v4
7g.75985621T>GCA367749970PORc.1216T>G (p.Tyr406Asp)
c.1342T>G (p.Tyr448Asp)
c.1441T>G (p.Tyr481Asp)
c.*109-439T>G (n.*109-439T>G)
c.655T>G (p.Tyr219Asp)
c.1592T>G
c.*746T>G (n.*746T>G)
n.52T>G
n.815T>G
c.1495T>G (p.Tyr499Asp)
c.1291T>G (p.Tyr431Asp)
c.1432T>G (p.Tyr478Asp)
c.1486T>G (p.Tyr496Asp)
c.1282T>G (p.Tyr428Asp)
7g.75985621T=CA1718180228PORc.1216T= (p.Tyr406=)
c.1342T= (p.Tyr448=)
c.1441T= (p.Tyr481=)
c.*109-439T= (n.*109-439T=)
c.655T= (p.Tyr219=)
c.1592T=
c.*746T= (n.*746T=)
n.52T=
n.815T=
c.1495T= (p.Tyr499=)
c.1291T= (p.Tyr431=)
c.1432T= (p.Tyr478=)
c.1486T= (p.Tyr496=)
c.1282T= (p.Tyr428=)
7g.75985622A>CCA367749971PORc.1217A>C (p.Tyr406Ser)
c.1343A>C (p.Tyr448Ser)
c.1442A>C (p.Tyr481Ser)
c.*109-438A>C (n.*109-438A>C)
c.656A>C (p.Tyr219Ser)
c.1593A>C
c.*747A>C (n.*747A>C)
n.53A>C
n.816A>C
c.1496A>C (p.Tyr499Ser)
c.1292A>C (p.Tyr431Ser)
c.1433A>C (p.Tyr478Ser)
c.1487A>C (p.Tyr496Ser)
c.1283A>C (p.Tyr428Ser)
7g.75985622A>GCA367749972PORc.1217A>G (p.Tyr406Cys)
c.1343A>G (p.Tyr448Cys)
c.1442A>G (p.Tyr481Cys)
c.*109-438A>G (n.*109-438A>G)
c.656A>G (p.Tyr219Cys)
c.1593A>G
c.*747A>G (n.*747A>G)
n.53A>G
n.816A>G
c.1496A>G (p.Tyr499Cys)
c.1292A>G (p.Tyr431Cys)
c.1433A>G (p.Tyr478Cys)
c.1487A>G (p.Tyr496Cys)
c.1283A>G (p.Tyr428Cys)
7g.75985622A>TCA367749973PORc.1217A>T (p.Tyr406Phe)
c.1343A>T (p.Tyr448Phe)
c.1442A>T (p.Tyr481Phe)
c.*109-438A>T (n.*109-438A>T)
c.656A>T (p.Tyr219Phe)
c.1593A>T
c.*747A>T (n.*747A>T)
n.53A>T
n.816A>T
c.1496A>T (p.Tyr499Phe)
c.1292A>T (p.Tyr431Phe)
c.1433A>T (p.Tyr478Phe)
c.1487A>T (p.Tyr496Phe)
c.1283A>T (p.Tyr428Phe)
7g.75985623C>ACA367749974PORc.1218C>A (p.Tyr406Ter)
c.1344C>A (p.Tyr448Ter)
c.1443C>A (p.Tyr481Ter)
c.*109-437C>A (n.*109-437C>A)
c.657C>A (p.Tyr219Ter)
c.1594C>A
c.*748C>A (n.*748C>A)
n.54C>A
n.817C>A
c.1497C>A (p.Tyr499Ter)
c.1293C>A (p.Tyr431Ter)
c.1434C>A (p.Tyr478Ter)
c.1488C>A (p.Tyr496Ter)
c.1284C>A (p.Tyr428Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985623C=CA1718180229PORc.1218C= (p.Tyr406=)
c.1344C= (p.Tyr448=)
c.1443C= (p.Tyr481=)
c.*109-437C= (n.*109-437C=)
c.657C= (p.Tyr219=)
c.1594C=
c.*748C= (n.*748C=)
n.54C=
n.817C=
c.1497C= (p.Tyr499=)
c.1293C= (p.Tyr431=)
c.1434C= (p.Tyr478=)
c.1488C= (p.Tyr496=)
c.1284C= (p.Tyr428=)
7g.75985623C>GCA367749975PORc.1218C>G (p.Tyr406Ter)
c.1344C>G (p.Tyr448Ter)
c.1443C>G (p.Tyr481Ter)
c.*109-437C>G (n.*109-437C>G)
c.657C>G (p.Tyr219Ter)
c.1594C>G
c.*748C>G (n.*748C>G)
n.54C>G
n.817C>G
c.1497C>G (p.Tyr499Ter)
c.1293C>G (p.Tyr431Ter)
c.1434C>G (p.Tyr478Ter)
c.1488C>G (p.Tyr496Ter)
c.1284C>G (p.Tyr428Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985623C>TCA456075917PORc.1218C>T (p.Tyr406=)
c.1344C>T (p.Tyr448=)
c.1443C>T (p.Tyr481=)
c.*109-437C>T (n.*109-437C>T)
c.657C>T (p.Tyr219=)
c.1594C>T
c.*748C>T (n.*748C>T)
n.54C>T
n.817C>T
c.1497C>T (p.Tyr499=)
c.1293C>T (p.Tyr431=)
c.1434C>T (p.Tyr478=)
c.1488C>T (p.Tyr496=)
c.1284C>T (p.Tyr428=)
 ClinVar dbSNP gnomAD v4
7g.75985624G>ACA4304142PORc.1219G>A (p.Glu407Lys)
c.1345G>A (p.Glu449Lys)
c.1444G>A (p.Glu482Lys)
c.*109-436G>A (n.*109-436G>A)
c.658G>A (p.Glu220Lys)
c.1595G>A
c.*749G>A (n.*749G>A)
n.55G>A
n.818G>A
c.1498G>A (p.Glu500Lys)
c.1294G>A (p.Glu432Lys)
c.1435G>A (p.Glu479Lys)
c.1489G>A (p.Glu497Lys)
c.1285G>A (p.Glu429Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985624G>CCA367749976PORc.1219G>C (p.Glu407Gln)
c.1345G>C (p.Glu449Gln)
c.1444G>C (p.Glu482Gln)
c.*109-436G>C (n.*109-436G>C)
c.658G>C (p.Glu220Gln)
c.1595G>C
c.*749G>C (n.*749G>C)
n.55G>C
n.818G>C
c.1498G>C (p.Glu500Gln)
c.1294G>C (p.Glu432Gln)
c.1435G>C (p.Glu479Gln)
c.1489G>C (p.Glu497Gln)
c.1285G>C (p.Glu429Gln)
 dbSNP gnomAD v3 gnomAD v4
7g.75985624G=CA1718180230PORc.1219G= (p.Glu407=)
c.1345G= (p.Glu449=)
c.1444G= (p.Glu482=)
c.*109-436G= (n.*109-436G=)
c.658G= (p.Glu220=)
c.1595G=
c.*749G= (n.*749G=)
n.55G=
n.818G=
c.1498G= (p.Glu500=)
c.1294G= (p.Glu432=)
c.1435G= (p.Glu479=)
c.1489G= (p.Glu497=)
c.1285G= (p.Glu429=)
7g.75985624G>TCA367749977PORc.1219G>T (p.Glu407Ter)
c.1345G>T (p.Glu449Ter)
c.1444G>T (p.Glu482Ter)
c.*109-436G>T (n.*109-436G>T)
c.658G>T (p.Glu220Ter)
c.1595G>T
c.*749G>T (n.*749G>T)
n.55G>T
n.818G>T
c.1498G>T (p.Glu500Ter)
c.1294G>T (p.Glu432Ter)
c.1435G>T (p.Glu479Ter)
c.1489G>T (p.Glu497Ter)
c.1285G>T (p.Glu429Ter)
 gnomAD v4
7g.75985625A>CCA367749978PORc.1220A>C (p.Glu407Ala)
c.1346A>C (p.Glu449Ala)
c.1445A>C (p.Glu482Ala)
c.*109-435A>C (n.*109-435A>C)
c.659A>C (p.Glu220Ala)
c.1596A>C
c.*750A>C (n.*750A>C)
n.56A>C
n.819A>C
c.1499A>C (p.Glu500Ala)
c.1295A>C (p.Glu432Ala)
c.1436A>C (p.Glu479Ala)
c.1490A>C (p.Glu497Ala)
c.1286A>C (p.Glu429Ala)
7g.75985625A>GCA367749979PORc.1220A>G (p.Glu407Gly)
c.1346A>G (p.Glu449Gly)
c.1445A>G (p.Glu482Gly)
c.*109-435A>G (n.*109-435A>G)
c.659A>G (p.Glu220Gly)
c.1596A>G
c.*750A>G (n.*750A>G)
n.56A>G
n.819A>G
c.1499A>G (p.Glu500Gly)
c.1295A>G (p.Glu432Gly)
c.1436A>G (p.Glu479Gly)
c.1490A>G (p.Glu497Gly)
c.1286A>G (p.Glu429Gly)
 gnomAD v4
7g.75985625A>TCA367749980PORc.1220A>T (p.Glu407Val)
c.1346A>T (p.Glu449Val)
c.1445A>T (p.Glu482Val)
c.*109-435A>T (n.*109-435A>T)
c.659A>T (p.Glu220Val)
c.1596A>T
c.*750A>T (n.*750A>T)
n.56A>T
n.819A>T
c.1499A>T (p.Glu500Val)
c.1295A>T (p.Glu432Val)
c.1436A>T (p.Glu479Val)
c.1490A>T (p.Glu497Val)
c.1286A>T (p.Glu429Val)
7g.75985626G>ACA456075928PORc.1221G>A (p.Glu407=)
c.1347G>A (p.Glu449=)
c.1446G>A (p.Glu482=)
c.*109-434G>A (n.*109-434G>A)
c.660G>A (p.Glu220=)
c.1597G>A
c.*751G>A (n.*751G>A)
n.57G>A
n.820G>A
c.1500G>A (p.Glu500=)
c.1296G>A (p.Glu432=)
c.1437G>A (p.Glu479=)
c.1491G>A (p.Glu497=)
c.1287G>A (p.Glu429=)
7g.75985626G>CCA367749981PORc.1221G>C (p.Glu407Asp)
c.1347G>C (p.Glu449Asp)
c.1446G>C (p.Glu482Asp)
c.*109-434G>C (n.*109-434G>C)
c.660G>C (p.Glu220Asp)
c.1597G>C
c.*751G>C (n.*751G>C)
n.57G>C
n.820G>C
c.1500G>C (p.Glu500Asp)
c.1296G>C (p.Glu432Asp)
c.1437G>C (p.Glu479Asp)
c.1491G>C (p.Glu497Asp)
c.1287G>C (p.Glu429Asp)
7g.75985626G>TCA367749982PORc.1221G>T (p.Glu407Asp)
c.1347G>T (p.Glu449Asp)
c.1446G>T (p.Glu482Asp)
c.*109-434G>T (n.*109-434G>T)
c.660G>T (p.Glu220Asp)
c.1597G>T
c.*751G>T (n.*751G>T)
n.57G>T
n.820G>T
c.1500G>T (p.Glu500Asp)
c.1296G>T (p.Glu432Asp)
c.1437G>T (p.Glu479Asp)
c.1491G>T (p.Glu497Asp)
c.1287G>T (p.Glu429Asp)
 gnomAD v4
7g.75985627A>CCA367749983PORc.1222A>C (p.Thr408Pro)
c.1348A>C (p.Thr450Pro)
c.1447A>C (p.Thr483Pro)
c.*109-433A>C (n.*109-433A>C)
c.661A>C (p.Thr221Pro)
c.1598A>C
c.*752A>C (n.*752A>C)
n.58A>C
n.821A>C
c.1501A>C (p.Thr501Pro)
c.1297A>C (p.Thr433Pro)
c.1438A>C (p.Thr480Pro)
c.1492A>C (p.Thr498Pro)
c.1288A>C (p.Thr430Pro)
7g.75985627A>GCA367749985PORc.1222A>G (p.Thr408Ala)
c.1348A>G (p.Thr450Ala)
c.1447A>G (p.Thr483Ala)
c.*109-433A>G (n.*109-433A>G)
c.661A>G (p.Thr221Ala)
c.1598A>G
c.*752A>G (n.*752A>G)
n.58A>G
n.821A>G
c.1501A>G (p.Thr501Ala)
c.1297A>G (p.Thr433Ala)
c.1438A>G (p.Thr480Ala)
c.1492A>G (p.Thr498Ala)
c.1288A>G (p.Thr430Ala)
7g.75985627A>TCA367749984PORc.1222A>T (p.Thr408Ser)
c.1348A>T (p.Thr450Ser)
c.1447A>T (p.Thr483Ser)
c.*109-433A>T (n.*109-433A>T)
c.661A>T (p.Thr221Ser)
c.1598A>T
c.*752A>T (n.*752A>T)
n.58A>T
n.821A>T
c.1501A>T (p.Thr501Ser)
c.1297A>T (p.Thr433Ser)
c.1438A>T (p.Thr480Ser)
c.1492A>T (p.Thr498Ser)
c.1288A>T (p.Thr430Ser)
7g.75985628C>ACA367749986PORc.1223C>A (p.Thr408Asn)
c.1349C>A (p.Thr450Asn)
c.1448C>A (p.Thr483Asn)
c.*109-432C>A (n.*109-432C>A)
c.662C>A (p.Thr221Asn)
c.1599C>A
c.*753C>A (n.*753C>A)
n.59C>A
n.822C>A
c.1502C>A (p.Thr501Asn)
c.1298C>A (p.Thr433Asn)
c.1439C>A (p.Thr480Asn)
c.1493C>A (p.Thr498Asn)
c.1289C>A (p.Thr430Asn)
 gnomAD v4
7g.75985628C=CA1718180231PORc.1223C= (p.Thr408=)
c.1349C= (p.Thr450=)
c.1448C= (p.Thr483=)
c.*109-432C= (n.*109-432C=)
c.662C= (p.Thr221=)
c.1599C=
c.*753C= (n.*753C=)
n.59C=
n.822C=
c.1502C= (p.Thr501=)
c.1298C= (p.Thr433=)
c.1439C= (p.Thr480=)
c.1493C= (p.Thr498=)
c.1289C= (p.Thr430=)
7g.75985628C>GCA367749987PORc.1223C>G (p.Thr408Ser)
c.1349C>G (p.Thr450Ser)
c.1448C>G (p.Thr483Ser)
c.*109-432C>G (n.*109-432C>G)
c.662C>G (p.Thr221Ser)
c.1599C>G
c.*753C>G (n.*753C>G)
n.59C>G
n.822C>G
c.1502C>G (p.Thr501Ser)
c.1298C>G (p.Thr433Ser)
c.1439C>G (p.Thr480Ser)
c.1493C>G (p.Thr498Ser)
c.1289C>G (p.Thr430Ser)
7g.75985628C>TCA160908614PORc.1223C>T (p.Thr408Ile)
c.1349C>T (p.Thr450Ile)
c.1448C>T (p.Thr483Ile)
c.*109-432C>T (n.*109-432C>T)
c.662C>T (p.Thr221Ile)
c.1599C>T
c.*753C>T (n.*753C>T)
n.59C>T
n.822C>T
c.1502C>T (p.Thr501Ile)
c.1298C>T (p.Thr433Ile)
c.1439C>T (p.Thr480Ile)
c.1493C>T (p.Thr498Ile)
c.1289C>T (p.Thr430Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985629C>ACA456075935PORc.1224C>A (p.Thr408=)
c.1350C>A (p.Thr450=)
c.1449C>A (p.Thr483=)
c.*109-431C>A (n.*109-431C>A)
c.663C>A (p.Thr221=)
c.1600C>A
c.*754C>A (n.*754C>A)
n.60C>A
n.823C>A
c.1503C>A (p.Thr501=)
c.1299C>A (p.Thr433=)
c.1440C>A (p.Thr480=)
c.1494C>A (p.Thr498=)
c.1290C>A (p.Thr430=)
 gnomAD v4
7g.75985629C=CA1718180232PORc.1224C= (p.Thr408=)
c.1350C= (p.Thr450=)
c.1449C= (p.Thr483=)
c.*109-431C= (n.*109-431C=)
c.663C= (p.Thr221=)
c.1600C=
c.*754C= (n.*754C=)
n.60C=
n.823C=
c.1503C= (p.Thr501=)
c.1299C= (p.Thr433=)
c.1440C= (p.Thr480=)
c.1494C= (p.Thr498=)
c.1290C= (p.Thr430=)
7g.75985629C>GCA456075938PORc.1224C>G (p.Thr408=)
c.1350C>G (p.Thr450=)
c.1449C>G (p.Thr483=)
c.*109-431C>G (n.*109-431C>G)
c.663C>G (p.Thr221=)
c.1600C>G
c.*754C>G (n.*754C>G)
n.60C>G
n.823C>G
c.1503C>G (p.Thr501=)
c.1299C>G (p.Thr433=)
c.1440C>G (p.Thr480=)
c.1494C>G (p.Thr498=)
c.1290C>G (p.Thr430=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985629C>TCA456075936PORc.1224C>T (p.Thr408=)
c.1350C>T (p.Thr450=)
c.1449C>T (p.Thr483=)
c.*109-431C>T (n.*109-431C>T)
c.663C>T (p.Thr221=)
c.1600C>T
c.*754C>T (n.*754C>T)
n.60C>T
n.823C>T
c.1503C>T (p.Thr501=)
c.1299C>T (p.Thr433=)
c.1440C>T (p.Thr480=)
c.1494C>T (p.Thr498=)
c.1290C>T (p.Thr430=)
 dbSNP gnomAD v2 gnomAD v4
7g.75985630A=CA1718180233PORc.1225A= (p.Lys409=)
c.1351A= (p.Lys451=)
c.1450A= (p.Lys484=)
c.*109-430A= (n.*109-430A=)
c.664A= (p.Lys222=)
c.1601A=
c.*755A= (n.*755A=)
n.61A=
n.824A=
c.1504A= (p.Lys502=)
c.1300A= (p.Lys434=)
c.1441A= (p.Lys481=)
c.1495A= (p.Lys499=)
c.1291A= (p.Lys431=)
7g.75985630A>CCA367749988PORc.1225A>C (p.Lys409Gln)
c.1351A>C (p.Lys451Gln)
c.1450A>C (p.Lys484Gln)
c.*109-430A>C (n.*109-430A>C)
c.664A>C (p.Lys222Gln)
c.1601A>C
c.*755A>C (n.*755A>C)
n.61A>C
n.824A>C
c.1504A>C (p.Lys502Gln)
c.1300A>C (p.Lys434Gln)
c.1441A>C (p.Lys481Gln)
c.1495A>C (p.Lys499Gln)
c.1291A>C (p.Lys431Gln)
7g.75985630A>GCA4304143PORc.1225A>G (p.Lys409Glu)
c.1351A>G (p.Lys451Glu)
c.1450A>G (p.Lys484Glu)
c.*109-430A>G (n.*109-430A>G)
c.664A>G (p.Lys222Glu)
c.1601A>G
c.*755A>G (n.*755A>G)
n.61A>G
n.824A>G
c.1504A>G (p.Lys502Glu)
c.1300A>G (p.Lys434Glu)
c.1441A>G (p.Lys481Glu)
c.1495A>G (p.Lys499Glu)
c.1291A>G (p.Lys431Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985630A>TCA367749989PORc.1225A>T (p.Lys409Ter)
c.1351A>T (p.Lys451Ter)
c.1450A>T (p.Lys484Ter)
c.*109-430A>T (n.*109-430A>T)
c.664A>T (p.Lys222Ter)
c.1601A>T
c.*755A>T (n.*755A>T)
n.61A>T
n.824A>T
c.1504A>T (p.Lys502Ter)
c.1300A>T (p.Lys434Ter)
c.1441A>T (p.Lys481Ter)
c.1495A>T (p.Lys499Ter)
c.1291A>T (p.Lys431Ter)
7g.75985631A=CA1718180234PORc.1226A= (p.Lys409=)
c.1352A= (p.Lys451=)
c.1451A= (p.Lys484=)
c.*109-429A= (n.*109-429A=)
c.665A= (p.Lys222=)
c.1602A=
c.*756A= (n.*756A=)
n.62A=
n.825A=
c.1505A= (p.Lys502=)
c.1301A= (p.Lys434=)
c.1442A= (p.Lys481=)
c.1496A= (p.Lys499=)
c.1292A= (p.Lys431=)
7g.75985631A>CCA367749990PORc.1226A>C (p.Lys409Thr)
c.1352A>C (p.Lys451Thr)
c.1451A>C (p.Lys484Thr)
c.*109-429A>C (n.*109-429A>C)
c.665A>C (p.Lys222Thr)
c.1602A>C
c.*756A>C (n.*756A>C)
n.62A>C
n.825A>C
c.1505A>C (p.Lys502Thr)
c.1301A>C (p.Lys434Thr)
c.1442A>C (p.Lys481Thr)
c.1496A>C (p.Lys499Thr)
c.1292A>C (p.Lys431Thr)
7g.75985631A>GCA367749991PORc.1226A>G (p.Lys409Arg)
c.1352A>G (p.Lys451Arg)
c.1451A>G (p.Lys484Arg)
c.*109-429A>G (n.*109-429A>G)
c.665A>G (p.Lys222Arg)
c.1602A>G
c.*756A>G (n.*756A>G)
n.62A>G
n.825A>G
c.1505A>G (p.Lys502Arg)
c.1301A>G (p.Lys434Arg)
c.1442A>G (p.Lys481Arg)
c.1496A>G (p.Lys499Arg)
c.1292A>G (p.Lys431Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985631A>TCA367749992PORc.1226A>T (p.Lys409Met)
c.1352A>T (p.Lys451Met)
c.1451A>T (p.Lys484Met)
c.*109-429A>T (n.*109-429A>T)
c.665A>T (p.Lys222Met)
c.1602A>T
c.*756A>T (n.*756A>T)
n.62A>T
n.825A>T
c.1505A>T (p.Lys502Met)
c.1301A>T (p.Lys434Met)
c.1442A>T (p.Lys481Met)
c.1496A>T (p.Lys499Met)
c.1292A>T (p.Lys431Met)
 gnomAD v4
7g.75985631_75985635delCA2697557325PORc.1226_1230del (p.Lys409ArgfsTer?)
c.1352_1356del (p.Lys451ArgfsTer?)
c.1451_1455del (p.Lys484ArgfsTer?)
c.*109-429_*109-425del (n.*109-429_*109-425del)
c.665_669del (p.Lys222ArgfsTer?)
c.1602_1606del
c.*756_*760del (n.*756_*760del)
n.62_66del
n.825_829del
c.1505_1509del (p.Lys502ArgfsTer?)
c.1301_1305del (p.Lys434ArgfsTer?)
c.1442_1446del (p.Lys481ArgfsTer?)
c.1496_1500del (p.Lys499ArgfsTer?)
c.1292_1296del (p.Lys431ArgfsTer?)
 ClinVar
7g.75985632G>ACA456075946PORc.1227G>A (p.Lys409=)
c.1353G>A (p.Lys451=)
c.1452G>A (p.Lys484=)
c.*109-428G>A (n.*109-428G>A)
c.666G>A (p.Lys222=)
c.1603G>A
c.*757G>A (n.*757G>A)
n.63G>A
n.826G>A
c.1506G>A (p.Lys502=)
c.1302G>A (p.Lys434=)
c.1443G>A (p.Lys481=)
c.1497G>A (p.Lys499=)
c.1293G>A (p.Lys431=)
 gnomAD v4
7g.75985632G>CCA367749993PORc.1227G>C (p.Lys409Asn)
c.1353G>C (p.Lys451Asn)
c.1452G>C (p.Lys484Asn)
c.*109-428G>C (n.*109-428G>C)
c.666G>C (p.Lys222Asn)
c.1603G>C
c.*757G>C (n.*757G>C)
n.63G>C
n.826G>C
c.1506G>C (p.Lys502Asn)
c.1302G>C (p.Lys434Asn)
c.1443G>C (p.Lys481Asn)
c.1497G>C (p.Lys499Asn)
c.1293G>C (p.Lys431Asn)
7g.75985632G>TCA367749994PORc.1227G>T (p.Lys409Asn)
c.1353G>T (p.Lys451Asn)
c.1452G>T (p.Lys484Asn)
c.*109-428G>T (n.*109-428G>T)
c.666G>T (p.Lys222Asn)
c.1603G>T
c.*757G>T (n.*757G>T)
n.63G>T
n.826G>T
c.1506G>T (p.Lys502Asn)
c.1302G>T (p.Lys434Asn)
c.1443G>T (p.Lys481Asn)
c.1497G>T (p.Lys499Asn)
c.1293G>T (p.Lys431Asn)
 gnomAD v4
7g.75985633G>ACA4304144PORc.1228G>A (p.Ala410Thr)
c.1354G>A (p.Ala452Thr)
c.1453G>A (p.Ala485Thr)
c.*109-427G>A (n.*109-427G>A)
c.667G>A (p.Ala223Thr)
c.1604G>A
c.*758G>A (n.*758G>A)
n.64G>A
n.827G>A
c.1507G>A (p.Ala503Thr)
c.1303G>A (p.Ala435Thr)
c.1444G>A (p.Ala482Thr)
c.1498G>A (p.Ala500Thr)
c.1294G>A (p.Ala432Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985633G>CCA367749995PORc.1228G>C (p.Ala410Pro)
c.1354G>C (p.Ala452Pro)
c.1453G>C (p.Ala485Pro)
c.*109-427G>C (n.*109-427G>C)
c.667G>C (p.Ala223Pro)
c.1604G>C
c.*758G>C (n.*758G>C)
n.64G>C
n.827G>C
c.1507G>C (p.Ala503Pro)
c.1303G>C (p.Ala435Pro)
c.1444G>C (p.Ala482Pro)
c.1498G>C (p.Ala500Pro)
c.1294G>C (p.Ala432Pro)
7g.75985633G=CA1718180235PORc.1228G= (p.Ala410=)
c.1354G= (p.Ala452=)
c.1453G= (p.Ala485=)
c.*109-427G= (n.*109-427G=)
c.667G= (p.Ala223=)
c.1604G=
c.*758G= (n.*758G=)
n.64G=
n.827G=
c.1507G= (p.Ala503=)
c.1303G= (p.Ala435=)
c.1444G= (p.Ala482=)
c.1498G= (p.Ala500=)
c.1294G= (p.Ala432=)
7g.75985633G>TCA367749996PORc.1228G>T (p.Ala410Ser)
c.1354G>T (p.Ala452Ser)
c.1453G>T (p.Ala485Ser)
c.*109-427G>T (n.*109-427G>T)
c.667G>T (p.Ala223Ser)
c.1604G>T
c.*758G>T (n.*758G>T)
n.64G>T
n.827G>T
c.1507G>T (p.Ala503Ser)
c.1303G>T (p.Ala435Ser)
c.1444G>T (p.Ala482Ser)
c.1498G>T (p.Ala500Ser)
c.1294G>T (p.Ala432Ser)
7g.75985634C>ACA367749997PORc.1229C>A (p.Ala410Asp)
c.1355C>A (p.Ala452Asp)
c.1454C>A (p.Ala485Asp)
c.*109-426C>A (n.*109-426C>A)
c.668C>A (p.Ala223Asp)
c.1605C>A
c.*759C>A (n.*759C>A)
n.65C>A
n.828C>A
c.1508C>A (p.Ala503Asp)
c.1304C>A (p.Ala435Asp)
c.1445C>A (p.Ala482Asp)
c.1499C>A (p.Ala500Asp)
c.1295C>A (p.Ala432Asp)
 gnomAD v4
7g.75985634C>GCA367749998PORc.1229C>G (p.Ala410Gly)
c.1355C>G (p.Ala452Gly)
c.1454C>G (p.Ala485Gly)
c.*109-426C>G (n.*109-426C>G)
c.668C>G (p.Ala223Gly)
c.1605C>G
c.*759C>G (n.*759C>G)
n.65C>G
n.828C>G
c.1508C>G (p.Ala503Gly)
c.1304C>G (p.Ala435Gly)
c.1445C>G (p.Ala482Gly)
c.1499C>G (p.Ala500Gly)
c.1295C>G (p.Ala432Gly)
7g.75985634C>TCA367749999PORc.1229C>T (p.Ala410Val)
c.1355C>T (p.Ala452Val)
c.1454C>T (p.Ala485Val)
c.*109-426C>T (n.*109-426C>T)
c.668C>T (p.Ala223Val)
c.1605C>T
c.*759C>T (n.*759C>T)
n.65C>T
n.828C>T
c.1508C>T (p.Ala503Val)
c.1304C>T (p.Ala435Val)
c.1445C>T (p.Ala482Val)
c.1499C>T (p.Ala500Val)
c.1295C>T (p.Ala432Val)
 gnomAD v4
7g.75985634dupCA2542741907PORc.1229dup (p.Gly411TrpfsTer?)
c.1355dup (p.Gly453TrpfsTer?)
c.1454dup (p.Gly486TrpfsTer?)
c.*109-426dup (n.*109-426dup)
c.668dup (p.Gly224TrpfsTer?)
c.1605dup
c.*759dup (n.*759dup)
n.65dup
n.828dup
c.1508dup (p.Gly504TrpfsTer?)
c.1304dup (p.Gly436TrpfsTer?)
c.1445dup (p.Gly483TrpfsTer?)
c.1499dup (p.Gly501TrpfsTer?)
c.1295dup (p.Gly433TrpfsTer?)
7g.75985635T>ACA4304145PORc.1230T>A (p.Ala410=)
c.1356T>A (p.Ala452=)
c.1455T>A (p.Ala485=)
c.*109-425T>A (n.*109-425T>A)
c.669T>A (p.Ala223=)
c.1606T>A
c.*760T>A (n.*760T>A)
n.66T>A
n.829T>A
c.1509T>A (p.Ala503=)
c.1305T>A (p.Ala435=)
c.1446T>A (p.Ala482=)
c.1500T>A (p.Ala500=)
c.1296T>A (p.Ala432=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985635T>CCA292898PORc.1230T>C (p.Ala410=)
c.1356T>C (p.Ala452=)
c.1455T>C (p.Ala485=)
c.*109-425T>C (n.*109-425T>C)
c.669T>C (p.Ala223=)
c.1606T>C
c.*760T>C (n.*760T>C)
n.66T>C
n.829T>C
c.1509T>C (p.Ala503=)
c.1305T>C (p.Ala435=)
c.1446T>C (p.Ala482=)
c.1500T>C (p.Ala500=)
c.1296T>C (p.Ala432=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985635T>GCA456075951PORc.1230T>G (p.Ala410=)
c.1356T>G (p.Ala452=)
c.1455T>G (p.Ala485=)
c.*109-425T>G (n.*109-425T>G)
c.669T>G (p.Ala223=)
c.1606T>G
c.*760T>G (n.*760T>G)
n.66T>G
n.829T>G
c.1509T>G (p.Ala503=)
c.1305T>G (p.Ala435=)
c.1446T>G (p.Ala482=)
c.1500T>G (p.Ala500=)
c.1296T>G (p.Ala432=)
 gnomAD v4
7g.75985635T=CA1718180236PORc.1230T= (p.Ala410=)
c.1356T= (p.Ala452=)
c.1455T= (p.Ala485=)
c.*109-425T= (n.*109-425T=)
c.669T= (p.Ala223=)
c.1606T=
c.*760T= (n.*760T=)
n.66T=
n.829T=
c.1509T= (p.Ala503=)
c.1305T= (p.Ala435=)
c.1446T= (p.Ala482=)
c.1500T= (p.Ala500=)
c.1296T= (p.Ala432=)
7g.75985635_75985636delinsCACA2573142347PORc.1230_1231delinsCA (p.Gly411Ser)
c.1356_1357delinsCA (p.Gly453Ser)
c.1455_1456delinsCA (p.Gly486Ser)
c.*109-425_*109-424delinsCA (n.*109-425_*109-424delinsCA)
c.669_670delinsCA (p.Gly224Ser)
c.1606_1607delinsCA
c.*760_*761delinsCA (n.*760_*761delinsCA)
n.66_67delinsCA
n.829_830delinsCA
c.1509_1510delinsCA (p.Gly504Ser)
c.1305_1306delinsCA (p.Gly436Ser)
c.1446_1447delinsCA (p.Gly483Ser)
c.1500_1501delinsCA (p.Gly501Ser)
c.1296_1297delinsCA (p.Gly433Ser)
 ClinVar
7g.75985636G>ACA160908629PORc.1231G>A (p.Gly411Ser)
c.1357G>A (p.Gly453Ser)
c.1456G>A (p.Gly486Ser)
c.*109-424G>A (n.*109-424G>A)
c.670G>A (p.Gly224Ser)
c.1607G>A
c.*761G>A (n.*761G>A)
n.67G>A
n.830G>A
c.1510G>A (p.Gly504Ser)
c.1306G>A (p.Gly436Ser)
c.1447G>A (p.Gly483Ser)
c.1501G>A (p.Gly501Ser)
c.1297G>A (p.Gly433Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.75985636G>CCA367750000PORc.1231G>C (p.Gly411Arg)
c.1357G>C (p.Gly453Arg)
c.1456G>C (p.Gly486Arg)
c.*109-424G>C (n.*109-424G>C)
c.670G>C (p.Gly224Arg)
c.1607G>C
c.*761G>C (n.*761G>C)
n.67G>C
n.830G>C
c.1510G>C (p.Gly504Arg)
c.1306G>C (p.Gly436Arg)
c.1447G>C (p.Gly483Arg)
c.1501G>C (p.Gly501Arg)
c.1297G>C (p.Gly433Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.75985636G=CA1718180237PORc.1231G= (p.Gly411=)
c.1357G= (p.Gly453=)
c.1456G= (p.Gly486=)
c.*109-424G= (n.*109-424G=)
c.670G= (p.Gly224=)
c.1607G=
c.*761G= (n.*761G=)
n.67G=
n.830G=
c.1510G= (p.Gly504=)
c.1306G= (p.Gly436=)
c.1447G= (p.Gly483=)
c.1501G= (p.Gly501=)
c.1297G= (p.Gly433=)
7g.75985636G>TCA367750001PORc.1231G>T (p.Gly411Cys)
c.1357G>T (p.Gly453Cys)
c.1456G>T (p.Gly486Cys)
c.*109-424G>T (n.*109-424G>T)
c.670G>T (p.Gly224Cys)
c.1607G>T
c.*761G>T (n.*761G>T)
n.67G>T
n.830G>T
c.1510G>T (p.Gly504Cys)
c.1306G>T (p.Gly436Cys)
c.1447G>T (p.Gly483Cys)
c.1501G>T (p.Gly501Cys)
c.1297G>T (p.Gly433Cys)
 dbSNP gnomAD v2 gnomAD v4
7g.75985636_75985637delCA2683383940PORc.1231_1232del (p.Gly411ProfsTer?)
c.1357_1358del (p.Gly453ProfsTer?)
c.1456_1457del (p.Gly486ProfsTer?)
c.*109-424_*109-423del (n.*109-424_*109-423del)
c.670_671del (p.Gly224ProfsTer?)
c.1607_1608del
c.*761_*762del (n.*761_*762del)
n.67_68del
n.830_831del
c.1510_1511del (p.Gly504ProfsTer?)
c.1306_1307del (p.Gly436ProfsTer?)
c.1447_1448del (p.Gly483ProfsTer?)
c.1501_1502del (p.Gly501ProfsTer?)
c.1297_1298del (p.Gly433ProfsTer?)
 gnomAD v4
7g.75985637_75985638insTTGTGGAGTACGAGACCAAGGCCGGCA2556299388PORc.1232_1233insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg412CysfsTer?)
c.1358_1359insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg454CysfsTer?)
c.1457_1458insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg487CysfsTer?)
c.*109-423_*109-422insTTGTGGAGTACGAGACCAAGGCCGG (n.*109-423_*109-422insTTGTGGAGTACGAGACCAAGGCCGG)
c.671_672insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg225CysfsTer?)
c.1608_1609insTTGTGGAGTACGAGACCAAGGCCGG
c.*762_*763insTTGTGGAGTACGAGACCAAGGCCGG (n.*762_*763insTTGTGGAGTACGAGACCAAGGCCGG)
n.68_69insTTGTGGAGTACGAGACCAAGGCCGG
n.831_832insTTGTGGAGTACGAGACCAAGGCCGG
c.1511_1512insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg505CysfsTer?)
c.1307_1308insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg437CysfsTer?)
c.1448_1449insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg484CysfsTer?)
c.1502_1503insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg502CysfsTer?)
c.1298_1299insTTGTGGAGTACGAGACCAAGGCCGG (p.Arg434CysfsTer?)
7g.75985637G>ACA367750002PORc.1232G>A (p.Gly411Asp)
c.1358G>A (p.Gly453Asp)
c.1457G>A (p.Gly486Asp)
c.*109-423G>A (n.*109-423G>A)
c.671G>A (p.Gly224Asp)
c.1608G>A
c.*762G>A (n.*762G>A)
n.68G>A
n.831G>A
c.1511G>A (p.Gly504Asp)
c.1307G>A (p.Gly436Asp)
c.1448G>A (p.Gly483Asp)
c.1502G>A (p.Gly501Asp)
c.1298G>A (p.Gly433Asp)
 gnomAD v4
7g.75985637G>CCA367750003PORc.1232G>C (p.Gly411Ala)
c.1358G>C (p.Gly453Ala)
c.1457G>C (p.Gly486Ala)
c.*109-423G>C (n.*109-423G>C)
c.671G>C (p.Gly224Ala)
c.1608G>C
c.*762G>C (n.*762G>C)
n.68G>C
n.831G>C
c.1511G>C (p.Gly504Ala)
c.1307G>C (p.Gly436Ala)
c.1448G>C (p.Gly483Ala)
c.1502G>C (p.Gly501Ala)
c.1298G>C (p.Gly433Ala)
7g.75985637G>TCA367750004PORc.1232G>T (p.Gly411Val)
c.1358G>T (p.Gly453Val)
c.1457G>T (p.Gly486Val)
c.*109-423G>T (n.*109-423G>T)
c.671G>T (p.Gly224Val)
c.1608G>T
c.*762G>T (n.*762G>T)
n.68G>T
n.831G>T
c.1511G>T (p.Gly504Val)
c.1307G>T (p.Gly436Val)
c.1448G>T (p.Gly483Val)
c.1502G>T (p.Gly501Val)
c.1298G>T (p.Gly433Val)
 gnomAD v4
7g.75985638C>ACA4304146PORc.1233C>A (p.Gly411=)
c.1359C>A (p.Gly453=)
c.1458C>A (p.Gly486=)
c.*109-422C>A (n.*109-422C>A)
c.672C>A (p.Gly224=)
c.1609C>A
c.*763C>A (n.*763C>A)
n.69C>A
n.832C>A
c.1512C>A (p.Gly504=)
c.1308C>A (p.Gly436=)
c.1449C>A (p.Gly483=)
c.1503C>A (p.Gly501=)
c.1299C>A (p.Gly433=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985638C=CA1718180238PORc.1233C= (p.Gly411=)
c.1359C= (p.Gly453=)
c.1458C= (p.Gly486=)
c.*109-422C= (n.*109-422C=)
c.672C= (p.Gly224=)
c.1609C=
c.*763C= (n.*763C=)
n.69C=
n.832C=
c.1512C= (p.Gly504=)
c.1308C= (p.Gly436=)
c.1449C= (p.Gly483=)
c.1503C= (p.Gly501=)
c.1299C= (p.Gly433=)
7g.75985638C>GCA456075960PORc.1233C>G (p.Gly411=)
c.1359C>G (p.Gly453=)
c.1458C>G (p.Gly486=)
c.*109-422C>G (n.*109-422C>G)
c.672C>G (p.Gly224=)
c.1609C>G
c.*763C>G (n.*763C>G)
n.69C>G
n.832C>G
c.1512C>G (p.Gly504=)
c.1308C>G (p.Gly436=)
c.1449C>G (p.Gly483=)
c.1503C>G (p.Gly501=)
c.1299C>G (p.Gly433=)
 dbSNP
7g.75985638C>TCA456075962PORc.1233C>T (p.Gly411=)
c.1359C>T (p.Gly453=)
c.1458C>T (p.Gly486=)
c.*109-422C>T (n.*109-422C>T)
c.672C>T (p.Gly224=)
c.1609C>T
c.*763C>T (n.*763C>T)
n.69C>T
n.832C>T
c.1512C>T (p.Gly504=)
c.1308C>T (p.Gly436=)
c.1449C>T (p.Gly483=)
c.1503C>T (p.Gly501=)
c.1299C>T (p.Gly433=)
 gnomAD v4
7g.75985639C>ACA367750005PORc.1234C>A (p.Arg412Ser)
c.1360C>A (p.Arg454Ser)
c.1459C>A (p.Arg487Ser)
c.*109-421C>A (n.*109-421C>A)
c.673C>A (p.Arg225Ser)
c.1610C>A
c.*764C>A (n.*764C>A)
n.70C>A
n.833C>A
c.1513C>A (p.Arg505Ser)
c.1309C>A (p.Arg437Ser)
c.1450C>A (p.Arg484Ser)
c.1504C>A (p.Arg502Ser)
c.1300C>A (p.Arg434Ser)
 gnomAD v4
7g.75985639C=CA1718180239PORc.1234C= (p.Arg412=)
c.1360C= (p.Arg454=)
c.1459C= (p.Arg487=)
c.*109-421C= (n.*109-421C=)
c.673C= (p.Arg225=)
c.1610C=
c.*764C= (n.*764C=)
n.70C=
n.833C=
c.1513C= (p.Arg505=)
c.1309C= (p.Arg437=)
c.1450C= (p.Arg484=)
c.1504C= (p.Arg502=)
c.1300C= (p.Arg434=)
7g.75985639C>GCA367750006PORc.1234C>G (p.Arg412Gly)
c.1360C>G (p.Arg454Gly)
c.1459C>G (p.Arg487Gly)
c.*109-421C>G (n.*109-421C>G)
c.673C>G (p.Arg225Gly)
c.1610C>G
c.*764C>G (n.*764C>G)
n.70C>G
n.833C>G
c.1513C>G (p.Arg505Gly)
c.1309C>G (p.Arg437Gly)
c.1450C>G (p.Arg484Gly)
c.1504C>G (p.Arg502Gly)
c.1300C>G (p.Arg434Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.75985639C>TCA4304147PORc.1234C>T (p.Arg412Cys)
c.1360C>T (p.Arg454Cys)
c.1459C>T (p.Arg487Cys)
c.*109-421C>T (n.*109-421C>T)
c.673C>T (p.Arg225Cys)
c.1610C>T
c.*764C>T (n.*764C>T)
n.70C>T
n.833C>T
c.1513C>T (p.Arg505Cys)
c.1309C>T (p.Arg437Cys)
c.1450C>T (p.Arg484Cys)
c.1504C>T (p.Arg502Cys)
c.1300C>T (p.Arg434Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985640G>ACA4304148PORc.1235G>A (p.Arg412His)
c.1361G>A (p.Arg454His)
c.1460G>A (p.Arg487His)
c.*109-420G>A (n.*109-420G>A)
c.674G>A (p.Arg225His)
c.1611G>A
c.*765G>A (n.*765G>A)
n.71G>A
n.834G>A
c.1514G>A (p.Arg505His)
c.1310G>A (p.Arg437His)
c.1451G>A (p.Arg484His)
c.1505G>A (p.Arg502His)
c.1301G>A (p.Arg434His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985640G>CCA367750007PORc.1235G>C (p.Arg412Pro)
c.1361G>C (p.Arg454Pro)
c.1460G>C (p.Arg487Pro)
c.*109-420G>C (n.*109-420G>C)
c.674G>C (p.Arg225Pro)
c.1611G>C
c.*765G>C (n.*765G>C)
n.71G>C
n.834G>C
c.1514G>C (p.Arg505Pro)
c.1310G>C (p.Arg437Pro)
c.1451G>C (p.Arg484Pro)
c.1505G>C (p.Arg502Pro)
c.1301G>C (p.Arg434Pro)
7g.75985640G=CA1718180240PORc.1235G= (p.Arg412=)
c.1361G= (p.Arg454=)
c.1460G= (p.Arg487=)
c.*109-420G= (n.*109-420G=)
c.674G= (p.Arg225=)
c.1611G=
c.*765G= (n.*765G=)
n.71G=
n.834G=
c.1514G= (p.Arg505=)
c.1310G= (p.Arg437=)
c.1451G= (p.Arg484=)
c.1505G= (p.Arg502=)
c.1301G= (p.Arg434=)
7g.75985640G>TCA367750008PORc.1235G>T (p.Arg412Leu)
c.1361G>T (p.Arg454Leu)
c.1460G>T (p.Arg487Leu)
c.*109-420G>T (n.*109-420G>T)
c.674G>T (p.Arg225Leu)
c.1611G>T
c.*765G>T (n.*765G>T)
n.71G>T
n.834G>T
c.1514G>T (p.Arg505Leu)
c.1310G>T (p.Arg437Leu)
c.1451G>T (p.Arg484Leu)
c.1505G>T (p.Arg502Leu)
c.1301G>T (p.Arg434Leu)
 dbSNP gnomAD v4
7g.75985641C>ACA456075971PORc.1236C>A (p.Arg412=)
c.1362C>A (p.Arg454=)
c.1461C>A (p.Arg487=)
c.*109-419C>A (n.*109-419C>A)
c.675C>A (p.Arg225=)
c.1612C>A
c.*766C>A (n.*766C>A)
n.72C>A
n.835C>A
c.1515C>A (p.Arg505=)
c.1311C>A (p.Arg437=)
c.1452C>A (p.Arg484=)
c.1506C>A (p.Arg502=)
c.1302C>A (p.Arg434=)
 dbSNP gnomAD v2 gnomAD v4
7g.75985641C=CA1718180241PORc.1236C= (p.Arg412=)
c.1362C= (p.Arg454=)
c.1461C= (p.Arg487=)
c.*109-419C= (n.*109-419C=)
c.675C= (p.Arg225=)
c.1612C=
c.*766C= (n.*766C=)
n.72C=
n.835C=
c.1515C= (p.Arg505=)
c.1311C= (p.Arg437=)
c.1452C= (p.Arg484=)
c.1506C= (p.Arg502=)
c.1302C= (p.Arg434=)
7g.75985641C>GCA456075972PORc.1236C>G (p.Arg412=)
c.1362C>G (p.Arg454=)
c.1461C>G (p.Arg487=)
c.*109-419C>G (n.*109-419C>G)
c.675C>G (p.Arg225=)
c.1612C>G
c.*766C>G (n.*766C>G)
n.72C>G
n.835C>G
c.1515C>G (p.Arg505=)
c.1311C>G (p.Arg437=)
c.1452C>G (p.Arg484=)
c.1506C>G (p.Arg502=)
c.1302C>G (p.Arg434=)
7g.75985641C>TCA456075975PORc.1236C>T (p.Arg412=)
c.1362C>T (p.Arg454=)
c.1461C>T (p.Arg487=)
c.*109-419C>T (n.*109-419C>T)
c.675C>T (p.Arg225=)
c.1612C>T
c.*766C>T (n.*766C>T)
n.72C>T
n.835C>T
c.1515C>T (p.Arg505=)
c.1311C>T (p.Arg437=)
c.1452C>T (p.Arg484=)
c.1506C>T (p.Arg502=)
c.1302C>T (p.Arg434=)
7g.75985642A=CA1718180242PORc.1237A= (p.Ile413=)
c.1363A= (p.Ile455=)
c.1462A= (p.Ile488=)
c.*109-418A= (n.*109-418A=)
c.676A= (p.Ile226=)
c.1613A=
c.*767A= (n.*767A=)
n.73A=
n.836A=
c.1516A= (p.Ile506=)
c.1312A= (p.Ile438=)
c.1453A= (p.Ile485=)
c.1507A= (p.Ile503=)
c.1303A= (p.Ile435=)
7g.75985642A>CCA367750011PORc.1237A>C (p.Ile413Leu)
c.1363A>C (p.Ile455Leu)
c.1462A>C (p.Ile488Leu)
c.*109-418A>C (n.*109-418A>C)
c.676A>C (p.Ile226Leu)
c.1613A>C
c.*767A>C (n.*767A>C)
n.73A>C
n.836A>C
c.1516A>C (p.Ile506Leu)
c.1312A>C (p.Ile438Leu)
c.1453A>C (p.Ile485Leu)
c.1507A>C (p.Ile503Leu)
c.1303A>C (p.Ile435Leu)
7g.75985642A>GCA367750009PORc.1237A>G (p.Ile413Val)
c.1363A>G (p.Ile455Val)
c.1462A>G (p.Ile488Val)
c.*109-418A>G (n.*109-418A>G)
c.676A>G (p.Ile226Val)
c.1613A>G
c.*767A>G (n.*767A>G)
n.73A>G
n.836A>G
c.1516A>G (p.Ile506Val)
c.1312A>G (p.Ile438Val)
c.1453A>G (p.Ile485Val)
c.1507A>G (p.Ile503Val)
c.1303A>G (p.Ile435Val)
 dbSNP gnomAD v2 gnomAD v4
7g.75985642A>TCA367750010PORc.1237A>T (p.Ile413Phe)
c.1363A>T (p.Ile455Phe)
c.1462A>T (p.Ile488Phe)
c.*109-418A>T (n.*109-418A>T)
c.676A>T (p.Ile226Phe)
c.1613A>T
c.*767A>T (n.*767A>T)
n.73A>T
n.836A>T
c.1516A>T (p.Ile506Phe)
c.1312A>T (p.Ile438Phe)
c.1453A>T (p.Ile485Phe)
c.1507A>T (p.Ile503Phe)
c.1303A>T (p.Ile435Phe)
7g.75985643T>ACA367750012PORc.1238T>A (p.Ile413Asn)
c.1364T>A (p.Ile455Asn)
c.1463T>A (p.Ile488Asn)
c.*109-417T>A (n.*109-417T>A)
c.677T>A (p.Ile226Asn)
c.1614T>A
c.*768T>A (n.*768T>A)
n.74T>A
n.837T>A
c.1517T>A (p.Ile506Asn)
c.1313T>A (p.Ile438Asn)
c.1454T>A (p.Ile485Asn)
c.1508T>A (p.Ile503Asn)
c.1304T>A (p.Ile435Asn)
7g.75985643T>CCA367750013PORc.1238T>C (p.Ile413Thr)
c.1364T>C (p.Ile455Thr)
c.1463T>C (p.Ile488Thr)
c.*109-417T>C (n.*109-417T>C)
c.677T>C (p.Ile226Thr)
c.1614T>C
c.*768T>C (n.*768T>C)
n.74T>C
n.837T>C
c.1517T>C (p.Ile506Thr)
c.1313T>C (p.Ile438Thr)
c.1454T>C (p.Ile485Thr)
c.1508T>C (p.Ile503Thr)
c.1304T>C (p.Ile435Thr)
 gnomAD v4
7g.75985643T>GCA367750014PORc.1238T>G (p.Ile413Ser)
c.1364T>G (p.Ile455Ser)
c.1463T>G (p.Ile488Ser)
c.*109-417T>G (n.*109-417T>G)
c.677T>G (p.Ile226Ser)
c.1614T>G
c.*768T>G (n.*768T>G)
n.74T>G
n.837T>G
c.1517T>G (p.Ile506Ser)
c.1313T>G (p.Ile438Ser)
c.1454T>G (p.Ile485Ser)
c.1508T>G (p.Ile503Ser)
c.1304T>G (p.Ile435Ser)
7g.75985643_75985646delinsTCAACA1718180243PORc.1238_1241delinsTCAA (p.Ile413=)
c.1364_1367delinsTCAA (p.Ile455=)
c.1463_1466delinsTCAA (p.Ile488=)
c.*109-417_*109-414delinsTCAA (n.*109-417_*109-414delinsTCAA)
c.677_680delinsTCAA (p.Ile226=)
c.1614_1617delinsTCAA
c.*768_*771delinsTCAA (n.*768_*771delinsTCAA)
n.74_77delinsTCAA
n.837_840delinsTCAA
c.1517_1520delinsTCAA (p.Ile506=)
c.1313_1316delinsTCAA (p.Ile438=)
c.1454_1457delinsTCAA (p.Ile485=)
c.1508_1511delinsTCAA (p.Ile503=)
c.1304_1307delinsTCAA (p.Ile435=)
7g.75985644C>ACA456075987PORc.1239C>A (p.Ile413=)
c.1365C>A (p.Ile455=)
c.1464C>A (p.Ile488=)
c.*109-416C>A (n.*109-416C>A)
c.678C>A (p.Ile226=)
c.1615C>A
c.*769C>A (n.*769C>A)
n.75C>A
n.838C>A
c.1518C>A (p.Ile506=)
c.1314C>A (p.Ile438=)
c.1455C>A (p.Ile485=)
c.1509C>A (p.Ile503=)
c.1305C>A (p.Ile435=)
 gnomAD v4
7g.75985644C=CA1718180244PORc.1239C= (p.Ile413=)
c.1365C= (p.Ile455=)
c.1464C= (p.Ile488=)
c.*109-416C= (n.*109-416C=)
c.678C= (p.Ile226=)
c.1615C=
c.*769C= (n.*769C=)
n.75C=
n.838C=
c.1518C= (p.Ile506=)
c.1314C= (p.Ile438=)
c.1455C= (p.Ile485=)
c.1509C= (p.Ile503=)
c.1305C= (p.Ile435=)
7g.75985644C>GCA367750015PORc.1239C>G (p.Ile413Met)
c.1365C>G (p.Ile455Met)
c.1464C>G (p.Ile488Met)
c.*109-416C>G (n.*109-416C>G)
c.678C>G (p.Ile226Met)
c.1615C>G
c.*769C>G (n.*769C>G)
n.75C>G
n.838C>G
c.1518C>G (p.Ile506Met)
c.1314C>G (p.Ile438Met)
c.1455C>G (p.Ile485Met)
c.1509C>G (p.Ile503Met)
c.1305C>G (p.Ile435Met)
7g.75985644C>TCA4304150PORc.1239C>T (p.Ile413=)
c.1365C>T (p.Ile455=)
c.1464C>T (p.Ile488=)
c.*109-416C>T (n.*109-416C>T)
c.678C>T (p.Ile226=)
c.1615C>T
c.*769C>T (n.*769C>T)
n.75C>T
n.838C>T
c.1518C>T (p.Ile506=)
c.1314C>T (p.Ile438=)
c.1455C>T (p.Ile485=)
c.1509C>T (p.Ile503=)
c.1305C>T (p.Ile435=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985647_75985649delCA4304149PORc.1242_1244del (p.Asn414del)
c.1368_1370del (p.Asn456del)
c.1467_1469del (p.Asn489del)
c.*109-413_*109-411del (n.*109-413_*109-411del)
c.681_683del (p.Asn227del)
c.1618_1620del
c.*772_*774del (n.*772_*774del)
n.78_80del
n.841_843del
c.1521_1523del (p.Asn507del)
c.1317_1319del (p.Asn439del)
c.1458_1460del (p.Asn486del)
c.1512_1514del (p.Asn504del)
c.1308_1310del (p.Asn436del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985645A>CCA367750016PORc.1240A>C (p.Asn414His)
c.1366A>C (p.Asn456His)
c.1465A>C (p.Asn489His)
c.*109-415A>C (n.*109-415A>C)
c.679A>C (p.Asn227His)
c.1616A>C
c.*770A>C (n.*770A>C)
n.76A>C
n.839A>C
c.1519A>C (p.Asn507His)
c.1315A>C (p.Asn439His)
c.1456A>C (p.Asn486His)
c.1510A>C (p.Asn504His)
c.1306A>C (p.Asn436His)
7g.75985645A>GCA367750017PORc.1240A>G (p.Asn414Asp)
c.1366A>G (p.Asn456Asp)
c.1465A>G (p.Asn489Asp)
c.*109-415A>G (n.*109-415A>G)
c.679A>G (p.Asn227Asp)
c.1616A>G
c.*770A>G (n.*770A>G)
n.76A>G
n.839A>G
c.1519A>G (p.Asn507Asp)
c.1315A>G (p.Asn439Asp)
c.1456A>G (p.Asn486Asp)
c.1510A>G (p.Asn504Asp)
c.1306A>G (p.Asn436Asp)
7g.75985645A>TCA367750018PORc.1240A>T (p.Asn414Tyr)
c.1366A>T (p.Asn456Tyr)
c.1465A>T (p.Asn489Tyr)
c.*109-415A>T (n.*109-415A>T)
c.679A>T (p.Asn227Tyr)
c.1616A>T
c.*770A>T (n.*770A>T)
n.76A>T
n.839A>T
c.1519A>T (p.Asn507Tyr)
c.1315A>T (p.Asn439Tyr)
c.1456A>T (p.Asn486Tyr)
c.1510A>T (p.Asn504Tyr)
c.1306A>T (p.Asn436Tyr)
7g.75985646A=CA1718180245PORc.1241A= (p.Asn414=)
c.1367A= (p.Asn456=)
c.1466A= (p.Asn489=)
c.*109-414A= (n.*109-414A=)
c.680A= (p.Asn227=)
c.1617A=
c.*771A= (n.*771A=)
n.77A=
n.840A=
c.1520A= (p.Asn507=)
c.1316A= (p.Asn439=)
c.1457A= (p.Asn486=)
c.1511A= (p.Asn504=)
c.1307A= (p.Asn436=)
7g.75985646A>CCA367750019PORc.1241A>C (p.Asn414Thr)
c.1367A>C (p.Asn456Thr)
c.1466A>C (p.Asn489Thr)
c.*109-414A>C (n.*109-414A>C)
c.680A>C (p.Asn227Thr)
c.1617A>C
c.*771A>C (n.*771A>C)
n.77A>C
n.840A>C
c.1520A>C (p.Asn507Thr)
c.1316A>C (p.Asn439Thr)
c.1457A>C (p.Asn486Thr)
c.1511A>C (p.Asn504Thr)
c.1307A>C (p.Asn436Thr)
7g.75985646A>GCA367750020PORc.1241A>G (p.Asn414Ser)
c.1367A>G (p.Asn456Ser)
c.1466A>G (p.Asn489Ser)
c.*109-414A>G (n.*109-414A>G)
c.680A>G (p.Asn227Ser)
c.1617A>G
c.*771A>G (n.*771A>G)
n.77A>G
n.840A>G
c.1520A>G (p.Asn507Ser)
c.1316A>G (p.Asn439Ser)
c.1457A>G (p.Asn486Ser)
c.1511A>G (p.Asn504Ser)
c.1307A>G (p.Asn436Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.75985646A>TCA367750021PORc.1241A>T (p.Asn414Ile)
c.1367A>T (p.Asn456Ile)
c.1466A>T (p.Asn489Ile)
c.*109-414A>T (n.*109-414A>T)
c.680A>T (p.Asn227Ile)
c.1617A>T
c.*771A>T (n.*771A>T)
n.77A>T
n.840A>T
c.1520A>T (p.Asn507Ile)
c.1316A>T (p.Asn439Ile)
c.1457A>T (p.Asn486Ile)
c.1511A>T (p.Asn504Ile)
c.1307A>T (p.Asn436Ile)
7g.75985647C>ACA367750022PORc.1242C>A (p.Asn414Lys)
c.1368C>A (p.Asn456Lys)
c.1467C>A (p.Asn489Lys)
c.*109-413C>A (n.*109-413C>A)
c.681C>A (p.Asn227Lys)
c.1618C>A
c.*772C>A (n.*772C>A)
n.78C>A
n.841C>A
c.1521C>A (p.Asn507Lys)
c.1317C>A (p.Asn439Lys)
c.1458C>A (p.Asn486Lys)
c.1512C>A (p.Asn504Lys)
c.1308C>A (p.Asn436Lys)
 gnomAD v4
7g.75985647C=CA1718180246PORc.1242C= (p.Asn414=)
c.1368C= (p.Asn456=)
c.1467C= (p.Asn489=)
c.*109-413C= (n.*109-413C=)
c.681C= (p.Asn227=)
c.1618C=
c.*772C= (n.*772C=)
n.78C=
n.841C=
c.1521C= (p.Asn507=)
c.1317C= (p.Asn439=)
c.1458C= (p.Asn486=)
c.1512C= (p.Asn504=)
c.1308C= (p.Asn436=)
7g.75985647C>GCA367750023PORc.1242C>G (p.Asn414Lys)
c.1368C>G (p.Asn456Lys)
c.1467C>G (p.Asn489Lys)
c.*109-413C>G (n.*109-413C>G)
c.681C>G (p.Asn227Lys)
c.1618C>G
c.*772C>G (n.*772C>G)
n.78C>G
n.841C>G
c.1521C>G (p.Asn507Lys)
c.1317C>G (p.Asn439Lys)
c.1458C>G (p.Asn486Lys)
c.1512C>G (p.Asn504Lys)
c.1308C>G (p.Asn436Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.75985647C>TCA456075997PORc.1242C>T (p.Asn414=)
c.1368C>T (p.Asn456=)
c.1467C>T (p.Asn489=)
c.*109-413C>T (n.*109-413C>T)
c.681C>T (p.Asn227=)
c.1618C>T
c.*772C>T (n.*772C>T)
n.78C>T
n.841C>T
c.1521C>T (p.Asn507=)
c.1317C>T (p.Asn439=)
c.1458C>T (p.Asn486=)
c.1512C>T (p.Asn504=)
c.1308C>T (p.Asn436=)
 dbSNP gnomAD v2 gnomAD v4
7g.75985648A>CCA367750026PORc.1243A>C (p.Lys415Gln)
c.1369A>C (p.Lys457Gln)
c.1468A>C (p.Lys490Gln)
c.*109-412A>C (n.*109-412A>C)
c.682A>C (p.Lys228Gln)
c.1619A>C
c.*773A>C (n.*773A>C)
n.79A>C
n.842A>C
c.1522A>C (p.Lys508Gln)
c.1318A>C (p.Lys440Gln)
c.1459A>C (p.Lys487Gln)
c.1513A>C (p.Lys505Gln)
c.1309A>C (p.Lys437Gln)
7g.75985648A>GCA367750024PORc.1243A>G (p.Lys415Glu)
c.1369A>G (p.Lys457Glu)
c.1468A>G (p.Lys490Glu)
c.*109-412A>G (n.*109-412A>G)
c.682A>G (p.Lys228Glu)
c.1619A>G
c.*773A>G (n.*773A>G)
n.79A>G
n.842A>G
c.1522A>G (p.Lys508Glu)
c.1318A>G (p.Lys440Glu)
c.1459A>G (p.Lys487Glu)
c.1513A>G (p.Lys505Glu)
c.1309A>G (p.Lys437Glu)
7g.75985648A>TCA367750025PORc.1243A>T (p.Lys415Ter)
c.1369A>T (p.Lys457Ter)
c.1468A>T (p.Lys490Ter)
c.*109-412A>T (n.*109-412A>T)
c.682A>T (p.Lys228Ter)
c.1619A>T
c.*773A>T (n.*773A>T)
n.79A>T
n.842A>T
c.1522A>T (p.Lys508Ter)
c.1318A>T (p.Lys440Ter)
c.1459A>T (p.Lys487Ter)
c.1513A>T (p.Lys505Ter)
c.1309A>T (p.Lys437Ter)
7g.75985649A>CCA367750027PORc.1244A>C (p.Lys415Thr)
c.1370A>C (p.Lys457Thr)
c.1469A>C (p.Lys490Thr)
c.*109-411A>C (n.*109-411A>C)
c.683A>C (p.Lys228Thr)
c.1620A>C
c.*774A>C (n.*774A>C)
n.80A>C
n.843A>C
c.1523A>C (p.Lys508Thr)
c.1319A>C (p.Lys440Thr)
c.1460A>C (p.Lys487Thr)
c.1514A>C (p.Lys505Thr)
c.1310A>C (p.Lys437Thr)
7g.75985649A>GCA367750028PORc.1244A>G (p.Lys415Arg)
c.1370A>G (p.Lys457Arg)
c.1469A>G (p.Lys490Arg)
c.*109-411A>G (n.*109-411A>G)
c.683A>G (p.Lys228Arg)
c.1620A>G
c.*774A>G (n.*774A>G)
n.80A>G
n.843A>G
c.1523A>G (p.Lys508Arg)
c.1319A>G (p.Lys440Arg)
c.1460A>G (p.Lys487Arg)
c.1514A>G (p.Lys505Arg)
c.1310A>G (p.Lys437Arg)
7g.75985649A>TCA367750029PORc.1244A>T (p.Lys415Met)
c.1370A>T (p.Lys457Met)
c.1469A>T (p.Lys490Met)
c.*109-411A>T (n.*109-411A>T)
c.683A>T (p.Lys228Met)
c.1620A>T
c.*774A>T (n.*774A>T)
n.80A>T
n.843A>T
c.1523A>T (p.Lys508Met)
c.1319A>T (p.Lys440Met)
c.1460A>T (p.Lys487Met)
c.1514A>T (p.Lys505Met)
c.1310A>T (p.Lys437Met)
7g.75985650G>ACA456331085PORc.1245G>A (p.Lys415=)
c.1371G>A (p.Lys457=)
c.1470G>A (p.Lys490=)
c.*109-410G>A (n.*109-410G>A)
c.684G>A (p.Lys228=)
c.1621G>A
c.*775G>A (n.*775G>A)
n.81G>A
n.844G>A
c.1524G>A (p.Lys508=)
c.1320G>A (p.Lys440=)
c.1461G>A (p.Lys487=)
c.1515G>A (p.Lys505=)
c.1311G>A (p.Lys437=)
 gnomAD v4
7g.75985650G>CCA367750030PORc.1245G>C (p.Lys415Asn)
c.1371G>C (p.Lys457Asn)
c.1470G>C (p.Lys490Asn)
c.*109-410G>C (n.*109-410G>C)
c.684G>C (p.Lys228Asn)
c.1621G>C
c.*775G>C (n.*775G>C)
n.81G>C
n.844G>C
c.1524G>C (p.Lys508Asn)
c.1320G>C (p.Lys440Asn)
c.1461G>C (p.Lys487Asn)
c.1515G>C (p.Lys505Asn)
c.1311G>C (p.Lys437Asn)
7g.75985650G>TCA367750031PORc.1245G>T (p.Lys415Asn)
c.1371G>T (p.Lys457Asn)
c.1470G>T (p.Lys490Asn)
c.*109-410G>T (n.*109-410G>T)
c.684G>T (p.Lys228Asn)
c.1621G>T
c.*775G>T (n.*775G>T)
n.81G>T
n.844G>T
c.1524G>T (p.Lys508Asn)
c.1320G>T (p.Lys440Asn)
c.1461G>T (p.Lys487Asn)
c.1515G>T (p.Lys505Asn)
c.1311G>T (p.Lys437Asn)
 gnomAD v4
7g.75985651G>ACA367750032PORc.1246G>A (p.Gly416Ser)
c.1372G>A (p.Gly458Ser)
c.1471G>A (p.Gly491Ser)
c.*109-409G>A (n.*109-409G>A)
c.685G>A (p.Gly229Ser)
c.1622G>A
c.*776G>A (n.*776G>A)
n.82G>A
n.845G>A
c.1525G>A (p.Gly509Ser)
c.1321G>A (p.Gly441Ser)
c.1462G>A (p.Gly488Ser)
c.1516G>A (p.Gly506Ser)
c.1312G>A (p.Gly438Ser)
 gnomAD v4
7g.75985651G>CCA367750033PORc.1246G>C (p.Gly416Arg)
c.1372G>C (p.Gly458Arg)
c.1471G>C (p.Gly491Arg)
c.*109-409G>C (n.*109-409G>C)
c.685G>C (p.Gly229Arg)
c.1622G>C
c.*776G>C (n.*776G>C)
n.82G>C
n.845G>C
c.1525G>C (p.Gly509Arg)
c.1321G>C (p.Gly441Arg)
c.1462G>C (p.Gly488Arg)
c.1516G>C (p.Gly506Arg)
c.1312G>C (p.Gly438Arg)
7g.75985651G>TCA367750034PORc.1246G>T (p.Gly416Cys)
c.1372G>T (p.Gly458Cys)
c.1471G>T (p.Gly491Cys)
c.*109-409G>T (n.*109-409G>T)
c.685G>T (p.Gly229Cys)
c.1622G>T
c.*776G>T (n.*776G>T)
n.82G>T
n.845G>T
c.1525G>T (p.Gly509Cys)
c.1321G>T (p.Gly441Cys)
c.1462G>T (p.Gly488Cys)
c.1516G>T (p.Gly506Cys)
c.1312G>T (p.Gly438Cys)
7g.75985652G>ACA367750035PORc.1247G>A (p.Gly416Asp)
c.1373G>A (p.Gly458Asp)
c.1472G>A (p.Gly491Asp)
c.*109-408G>A (n.*109-408G>A)
c.686G>A (p.Gly229Asp)
c.1623G>A
c.*777G>A (n.*777G>A)
n.83G>A
n.846G>A
c.1526G>A (p.Gly509Asp)
c.1322G>A (p.Gly441Asp)
c.1463G>A (p.Gly488Asp)
c.1517G>A (p.Gly506Asp)
c.1313G>A (p.Gly438Asp)
7g.75985652G>CCA367750036PORc.1247G>C (p.Gly416Ala)
c.1373G>C (p.Gly458Ala)
c.1472G>C (p.Gly491Ala)
c.*109-408G>C (n.*109-408G>C)
c.686G>C (p.Gly229Ala)
c.1623G>C
c.*777G>C (n.*777G>C)
n.83G>C
n.846G>C
c.1526G>C (p.Gly509Ala)
c.1322G>C (p.Gly441Ala)
c.1463G>C (p.Gly488Ala)
c.1517G>C (p.Gly506Ala)
c.1313G>C (p.Gly438Ala)
7g.75985652G>TCA367750037PORc.1247G>T (p.Gly416Val)
c.1373G>T (p.Gly458Val)
c.1472G>T (p.Gly491Val)
c.*109-408G>T (n.*109-408G>T)
c.686G>T (p.Gly229Val)
c.1623G>T
c.*777G>T (n.*777G>T)
n.83G>T
n.846G>T
c.1526G>T (p.Gly509Val)
c.1322G>T (p.Gly441Val)
c.1463G>T (p.Gly488Val)
c.1517G>T (p.Gly506Val)
c.1313G>T (p.Gly438Val)
7g.75985653C>ACA456331086PORc.1248C>A (p.Gly416=)
c.1374C>A (p.Gly458=)
c.1473C>A (p.Gly491=)
c.*109-407C>A (n.*109-407C>A)
c.687C>A (p.Gly229=)
c.1624C>A
c.*778C>A (n.*778C>A)
n.84C>A
n.847C>A
c.1527C>A (p.Gly509=)
c.1323C>A (p.Gly441=)
c.1464C>A (p.Gly488=)
c.1518C>A (p.Gly506=)
c.1314C>A (p.Gly438=)
 gnomAD v4
7g.75985653C=CA1718180247PORc.1248C= (p.Gly416=)
c.1374C= (p.Gly458=)
c.1473C= (p.Gly491=)
c.*109-407C= (n.*109-407C=)
c.687C= (p.Gly229=)
c.1624C=
c.*778C= (n.*778C=)
n.84C=
n.847C=
c.1527C= (p.Gly509=)
c.1323C= (p.Gly441=)
c.1464C= (p.Gly488=)
c.1518C= (p.Gly506=)
c.1314C= (p.Gly438=)
7g.75985653C>GCA456331087PORc.1248C>G (p.Gly416=)
c.1374C>G (p.Gly458=)
c.1473C>G (p.Gly491=)
c.*109-407C>G (n.*109-407C>G)
c.687C>G (p.Gly229=)
c.1624C>G
c.*778C>G (n.*778C>G)
n.84C>G
n.847C>G
c.1527C>G (p.Gly509=)
c.1323C>G (p.Gly441=)
c.1464C>G (p.Gly488=)
c.1518C>G (p.Gly506=)
c.1314C>G (p.Gly438=)
7g.75985653C>TCA4304151PORc.1248C>T (p.Gly416=)
c.1374C>T (p.Gly458=)
c.1473C>T (p.Gly491=)
c.*109-407C>T (n.*109-407C>T)
c.687C>T (p.Gly229=)
c.1624C>T
c.*778C>T (n.*778C>T)
n.84C>T
n.847C>T
c.1527C>T (p.Gly509=)
c.1323C>T (p.Gly441=)
c.1464C>T (p.Gly488=)
c.1518C>T (p.Gly506=)
c.1314C>T (p.Gly438=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985654G>ACA4304152PORc.1249G>A (p.Val417Met)
c.1375G>A (p.Val459Met)
c.1474G>A (p.Val492Met)
c.*109-406G>A (n.*109-406G>A)
c.688G>A (p.Val230Met)
c.1625G>A
c.*779G>A (n.*779G>A)
n.85G>A
n.848G>A
c.1528G>A (p.Val510Met)
c.1324G>A (p.Val442Met)
c.1465G>A (p.Val489Met)
c.1519G>A (p.Val507Met)
c.1315G>A (p.Val439Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985654G>CCA367750039PORc.1249G>C (p.Val417Leu)
c.1375G>C (p.Val459Leu)
c.1474G>C (p.Val492Leu)
c.*109-406G>C (n.*109-406G>C)
c.688G>C (p.Val230Leu)
c.1625G>C
c.*779G>C (n.*779G>C)
n.85G>C
n.848G>C
c.1528G>C (p.Val510Leu)
c.1324G>C (p.Val442Leu)
c.1465G>C (p.Val489Leu)
c.1519G>C (p.Val507Leu)
c.1315G>C (p.Val439Leu)
7g.75985654G=CA1718180248PORc.1249G= (p.Val417=)
c.1375G= (p.Val459=)
c.1474G= (p.Val492=)
c.*109-406G= (n.*109-406G=)
c.688G= (p.Val230=)
c.1625G=
c.*779G= (n.*779G=)
n.85G=
n.848G=
c.1528G= (p.Val510=)
c.1324G= (p.Val442=)
c.1465G= (p.Val489=)
c.1519G= (p.Val507=)
c.1315G= (p.Val439=)
7g.75985654G>TCA367750038PORc.1249G>T (p.Val417Leu)
c.1375G>T (p.Val459Leu)
c.1474G>T (p.Val492Leu)
c.*109-406G>T (n.*109-406G>T)
c.688G>T (p.Val230Leu)
c.1625G>T
c.*779G>T (n.*779G>T)
n.85G>T
n.848G>T
c.1528G>T (p.Val510Leu)
c.1324G>T (p.Val442Leu)
c.1465G>T (p.Val489Leu)
c.1519G>T (p.Val507Leu)
c.1315G>T (p.Val439Leu)
7g.75985655T>ACA257651PORc.1250T>A (p.Val417Glu)
c.1376T>A (p.Val459Glu)
c.1475T>A (p.Val492Glu)
c.*109-405T>A (n.*109-405T>A)
c.689T>A (p.Val230Glu)
c.1626T>A
c.*780T>A (n.*780T>A)
n.86T>A
n.849T>A
c.1529T>A (p.Val510Glu)
c.1325T>A (p.Val442Glu)
c.1466T>A (p.Val489Glu)
c.1520T>A (p.Val507Glu)
c.1316T>A (p.Val439Glu)
 ClinVar dbSNP
7g.75985655T>CCA367750041PORc.1250T>C (p.Val417Ala)
c.1376T>C (p.Val459Ala)
c.1475T>C (p.Val492Ala)
c.*109-405T>C (n.*109-405T>C)
c.689T>C (p.Val230Ala)
c.1626T>C
c.*780T>C (n.*780T>C)
n.86T>C
n.849T>C
c.1529T>C (p.Val510Ala)
c.1325T>C (p.Val442Ala)
c.1466T>C (p.Val489Ala)
c.1520T>C (p.Val507Ala)
c.1316T>C (p.Val439Ala)
 gnomAD v4
7g.75985655T>GCA367750040PORc.1250T>G (p.Val417Gly)
c.1376T>G (p.Val459Gly)
c.1475T>G (p.Val492Gly)
c.*109-405T>G (n.*109-405T>G)
c.689T>G (p.Val230Gly)
c.1626T>G
c.*780T>G (n.*780T>G)
n.86T>G
n.849T>G
c.1529T>G (p.Val510Gly)
c.1325T>G (p.Val442Gly)
c.1466T>G (p.Val489Gly)
c.1520T>G (p.Val507Gly)
c.1316T>G (p.Val439Gly)
7g.75985655T=CA1718180249PORc.1250T= (p.Val417=)
c.1376T= (p.Val459=)
c.1475T= (p.Val492=)
c.*109-405T= (n.*109-405T=)
c.689T= (p.Val230=)
c.1626T=
c.*780T= (n.*780T=)
n.86T=
n.849T=
c.1529T= (p.Val510=)
c.1325T= (p.Val442=)
c.1466T= (p.Val489=)
c.1520T= (p.Val507=)
c.1316T= (p.Val439=)
7g.75985656G>ACA456331088PORc.1251G>A (p.Val417=)
c.1377G>A (p.Val459=)
c.1476G>A (p.Val492=)
c.*109-404G>A (n.*109-404G>A)
c.690G>A (p.Val230=)
c.1627G>A
c.*781G>A (n.*781G>A)
n.87G>A
n.850G>A
c.1530G>A (p.Val510=)
c.1326G>A (p.Val442=)
c.1467G>A (p.Val489=)
c.1521G>A (p.Val507=)
c.1317G>A (p.Val439=)
 dbSNP gnomAD v3 gnomAD v4
7g.75985656G>CCA456331089PORc.1251G>C (p.Val417=)
c.1377G>C (p.Val459=)
c.1476G>C (p.Val492=)
c.*109-404G>C (n.*109-404G>C)
c.690G>C (p.Val230=)
c.1627G>C
c.*781G>C (n.*781G>C)
n.87G>C
n.850G>C
c.1530G>C (p.Val510=)
c.1326G>C (p.Val442=)
c.1467G>C (p.Val489=)
c.1521G>C (p.Val507=)
c.1317G>C (p.Val439=)
7g.75985656G=CA1718180250PORc.1251G= (p.Val417=)
c.1377G= (p.Val459=)
c.1476G= (p.Val492=)
c.*109-404G= (n.*109-404G=)
c.690G= (p.Val230=)
c.1627G=
c.*781G= (n.*781G=)
n.87G=
n.850G=
c.1530G= (p.Val510=)
c.1326G= (p.Val442=)
c.1467G= (p.Val489=)
c.1521G= (p.Val507=)
c.1317G= (p.Val439=)
7g.75985656G>TCA456331090PORc.1251G>T (p.Val417=)
c.1377G>T (p.Val459=)
c.1476G>T (p.Val492=)
c.*109-404G>T (n.*109-404G>T)
c.690G>T (p.Val230=)
c.1627G>T
c.*781G>T (n.*781G>T)
n.87G>T
n.850G>T
c.1530G>T (p.Val510=)
c.1326G>T (p.Val442=)
c.1467G>T (p.Val489=)
c.1521G>T (p.Val507=)
c.1317G>T (p.Val439=)
7g.75985657G>ACA367750042PORc.1252G>A (p.Ala418Thr)
c.1378G>A (p.Ala460Thr)
c.1477G>A (p.Ala493Thr)
c.*109-403G>A (n.*109-403G>A)
c.691G>A (p.Ala231Thr)
c.1628G>A
c.*782G>A (n.*782G>A)
n.88G>A
n.851G>A
c.1531G>A (p.Ala511Thr)
c.1327G>A (p.Ala443Thr)
c.1468G>A (p.Ala490Thr)
c.1522G>A (p.Ala508Thr)
c.1318G>A (p.Ala440Thr)
 gnomAD v4
7g.75985657G>CCA367750043PORc.1252G>C (p.Ala418Pro)
c.1378G>C (p.Ala460Pro)
c.1477G>C (p.Ala493Pro)
c.*109-403G>C (n.*109-403G>C)
c.691G>C (p.Ala231Pro)
c.1628G>C
c.*782G>C (n.*782G>C)
n.88G>C
n.851G>C
c.1531G>C (p.Ala511Pro)
c.1327G>C (p.Ala443Pro)
c.1468G>C (p.Ala490Pro)
c.1522G>C (p.Ala508Pro)
c.1318G>C (p.Ala440Pro)
 gnomAD v4
7g.75985657G=CA1718180251PORc.1252G= (p.Ala418=)
c.1378G= (p.Ala460=)
c.1477G= (p.Ala493=)
c.*109-403G= (n.*109-403G=)
c.691G= (p.Ala231=)
c.1628G=
c.*782G= (n.*782G=)
n.88G=
n.851G=
c.1531G= (p.Ala511=)
c.1327G= (p.Ala443=)
c.1468G= (p.Ala490=)
c.1522G= (p.Ala508=)
c.1318G= (p.Ala440=)
7g.75985657G>TCA367750044PORc.1252G>T (p.Ala418Ser)
c.1378G>T (p.Ala460Ser)
c.1477G>T (p.Ala493Ser)
c.*109-403G>T (n.*109-403G>T)
c.691G>T (p.Ala231Ser)
c.1628G>T
c.*782G>T (n.*782G>T)
n.88G>T
n.851G>T
c.1531G>T (p.Ala511Ser)
c.1327G>T (p.Ala443Ser)
c.1468G>T (p.Ala490Ser)
c.1522G>T (p.Ala508Ser)
c.1318G>T (p.Ala440Ser)
 dbSNP gnomAD v4
7g.75985658C>ACA367750045PORc.1253C>A (p.Ala418Asp)
c.1379C>A (p.Ala460Asp)
c.1478C>A (p.Ala493Asp)
c.*109-402C>A (n.*109-402C>A)
c.692C>A (p.Ala231Asp)
c.1629C>A
c.*783C>A (n.*783C>A)
n.89C>A
n.852C>A
c.1532C>A (p.Ala511Asp)
c.1328C>A (p.Ala443Asp)
c.1469C>A (p.Ala490Asp)
c.1523C>A (p.Ala508Asp)
c.1319C>A (p.Ala440Asp)
 dbSNP gnomAD v4
7g.75985658C=CA1718180252PORc.1253C= (p.Ala418=)
c.1379C= (p.Ala460=)
c.1478C= (p.Ala493=)
c.*109-402C= (n.*109-402C=)
c.692C= (p.Ala231=)
c.1629C=
c.*783C= (n.*783C=)
n.89C=
n.852C=
c.1532C= (p.Ala511=)
c.1328C= (p.Ala443=)
c.1469C= (p.Ala490=)
c.1523C= (p.Ala508=)
c.1319C= (p.Ala440=)
7g.75985658C>GCA367750046PORc.1253C>G (p.Ala418Gly)
c.1379C>G (p.Ala460Gly)
c.1478C>G (p.Ala493Gly)
c.*109-402C>G (n.*109-402C>G)
c.692C>G (p.Ala231Gly)
c.1629C>G
c.*783C>G (n.*783C>G)
n.89C>G
n.852C>G
c.1532C>G (p.Ala511Gly)
c.1328C>G (p.Ala443Gly)
c.1469C>G (p.Ala490Gly)
c.1523C>G (p.Ala508Gly)
c.1319C>G (p.Ala440Gly)
 gnomAD v4
7g.75985658C>TCA367750047PORc.1253C>T (p.Ala418Val)
c.1379C>T (p.Ala460Val)
c.1478C>T (p.Ala493Val)
c.*109-402C>T (n.*109-402C>T)
c.692C>T (p.Ala231Val)
c.1629C>T
c.*783C>T (n.*783C>T)
n.89C>T
n.852C>T
c.1532C>T (p.Ala511Val)
c.1328C>T (p.Ala443Val)
c.1469C>T (p.Ala490Val)
c.1523C>T (p.Ala508Val)
c.1319C>T (p.Ala440Val)
7g.75985659C>ACA456331091PORc.1254C>A (p.Ala418=)
c.1380C>A (p.Ala460=)
c.1479C>A (p.Ala493=)
c.*109-401C>A (n.*109-401C>A)
c.693C>A (p.Ala231=)
c.1630C>A
c.*784C>A (n.*784C>A)
n.90C>A
n.853C>A
c.1533C>A (p.Ala511=)
c.1329C>A (p.Ala443=)
c.1470C>A (p.Ala490=)
c.1524C>A (p.Ala508=)
c.1320C>A (p.Ala440=)
 dbSNP gnomAD v4
7g.75985659C=CA1718180253PORc.1254C= (p.Ala418=)
c.1380C= (p.Ala460=)
c.1479C= (p.Ala493=)
c.*109-401C= (n.*109-401C=)
c.693C= (p.Ala231=)
c.1630C=
c.*784C= (n.*784C=)
n.90C=
n.853C=
c.1533C= (p.Ala511=)
c.1329C= (p.Ala443=)
c.1470C= (p.Ala490=)
c.1524C= (p.Ala508=)
c.1320C= (p.Ala440=)
7g.75985659C>GCA456331092PORc.1254C>G (p.Ala418=)
c.1380C>G (p.Ala460=)
c.1479C>G (p.Ala493=)
c.*109-401C>G (n.*109-401C>G)
c.693C>G (p.Ala231=)
c.1630C>G
c.*784C>G (n.*784C>G)
n.90C>G
n.853C>G
c.1533C>G (p.Ala511=)
c.1329C>G (p.Ala443=)
c.1470C>G (p.Ala490=)
c.1524C>G (p.Ala508=)
c.1320C>G (p.Ala440=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985659C>TCA4304153PORc.1254C>T (p.Ala418=)
c.1380C>T (p.Ala460=)
c.1479C>T (p.Ala493=)
c.*109-401C>T (n.*109-401C>T)
c.693C>T (p.Ala231=)
c.1630C>T
c.*784C>T (n.*784C>T)
n.90C>T
n.853C>T
c.1533C>T (p.Ala511=)
c.1329C>T (p.Ala443=)
c.1470C>T (p.Ala490=)
c.1524C>T (p.Ala508=)
c.1320C>T (p.Ala440=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985660A>CCA367750048PORc.1255A>C (p.Thr419Pro)
c.1381A>C (p.Thr461Pro)
c.1480A>C (p.Thr494Pro)
c.*109-400A>C (n.*109-400A>C)
c.694A>C (p.Thr232Pro)
c.1631A>C
c.*785A>C (n.*785A>C)
n.91A>C
n.854A>C
c.1534A>C (p.Thr512Pro)
c.1330A>C (p.Thr444Pro)
c.1471A>C (p.Thr491Pro)
c.1525A>C (p.Thr509Pro)
c.1321A>C (p.Thr441Pro)
7g.75985660A>GCA367750049PORc.1255A>G (p.Thr419Ala)
c.1381A>G (p.Thr461Ala)
c.1480A>G (p.Thr494Ala)
c.*109-400A>G (n.*109-400A>G)
c.694A>G (p.Thr232Ala)
c.1631A>G
c.*785A>G (n.*785A>G)
n.91A>G
n.854A>G
c.1534A>G (p.Thr512Ala)
c.1330A>G (p.Thr444Ala)
c.1471A>G (p.Thr491Ala)
c.1525A>G (p.Thr509Ala)
c.1321A>G (p.Thr441Ala)
 gnomAD v4
7g.75985660A>TCA367750050PORc.1255A>T (p.Thr419Ser)
c.1381A>T (p.Thr461Ser)
c.1480A>T (p.Thr494Ser)
c.*109-400A>T (n.*109-400A>T)
c.694A>T (p.Thr232Ser)
c.1631A>T
c.*785A>T (n.*785A>T)
n.91A>T
n.854A>T
c.1534A>T (p.Thr512Ser)
c.1330A>T (p.Thr444Ser)
c.1471A>T (p.Thr491Ser)
c.1525A>T (p.Thr509Ser)
c.1321A>T (p.Thr441Ser)
7g.75985661C>ACA367750053PORc.1256C>A (p.Thr419Asn)
c.1382C>A (p.Thr461Asn)
c.1481C>A (p.Thr494Asn)
c.*109-399C>A (n.*109-399C>A)
c.695C>A (p.Thr232Asn)
c.1632C>A
c.*786C>A (n.*786C>A)
n.92C>A
n.855C>A
c.1535C>A (p.Thr512Asn)
c.1331C>A (p.Thr444Asn)
c.1472C>A (p.Thr491Asn)
c.1526C>A (p.Thr509Asn)
c.1322C>A (p.Thr441Asn)
7g.75985661C>GCA367750052PORc.1256C>G (p.Thr419Ser)
c.1382C>G (p.Thr461Ser)
c.1481C>G (p.Thr494Ser)
c.*109-399C>G (n.*109-399C>G)
c.695C>G (p.Thr232Ser)
c.1632C>G
c.*786C>G (n.*786C>G)
n.92C>G
n.855C>G
c.1535C>G (p.Thr512Ser)
c.1331C>G (p.Thr444Ser)
c.1472C>G (p.Thr491Ser)
c.1526C>G (p.Thr509Ser)
c.1322C>G (p.Thr441Ser)
7g.75985661C>TCA367750051PORc.1256C>T (p.Thr419Ile)
c.1382C>T (p.Thr461Ile)
c.1481C>T (p.Thr494Ile)
c.*109-399C>T (n.*109-399C>T)
c.695C>T (p.Thr232Ile)
c.1632C>T
c.*786C>T (n.*786C>T)
n.92C>T
n.855C>T
c.1535C>T (p.Thr512Ile)
c.1331C>T (p.Thr444Ile)
c.1472C>T (p.Thr491Ile)
c.1526C>T (p.Thr509Ile)
c.1322C>T (p.Thr441Ile)
 gnomAD v4
7g.75985662C>ACA456331093PORc.1257C>A (p.Thr419=)
c.1383C>A (p.Thr461=)
c.1482C>A (p.Thr494=)
c.*109-398C>A (n.*109-398C>A)
c.696C>A (p.Thr232=)
c.1633C>A
c.*787C>A (n.*787C>A)
n.93C>A
n.856C>A
c.1536C>A (p.Thr512=)
c.1332C>A (p.Thr444=)
c.1473C>A (p.Thr491=)
c.1527C>A (p.Thr509=)
c.1323C>A (p.Thr441=)
 gnomAD v4
7g.75985662C>GCA456331094PORc.1257C>G (p.Thr419=)
c.1383C>G (p.Thr461=)
c.1482C>G (p.Thr494=)
c.*109-398C>G (n.*109-398C>G)
c.696C>G (p.Thr232=)
c.1633C>G
c.*787C>G (n.*787C>G)
n.93C>G
n.856C>G
c.1536C>G (p.Thr512=)
c.1332C>G (p.Thr444=)
c.1473C>G (p.Thr491=)
c.1527C>G (p.Thr509=)
c.1323C>G (p.Thr441=)
7g.75985662C>TCA456331095PORc.1257C>T (p.Thr419=)
c.1383C>T (p.Thr461=)
c.1482C>T (p.Thr494=)
c.*109-398C>T (n.*109-398C>T)
c.696C>T (p.Thr232=)
c.1633C>T
c.*787C>T (n.*787C>T)
n.93C>T
n.856C>T
c.1536C>T (p.Thr512=)
c.1332C>T (p.Thr444=)
c.1473C>T (p.Thr491=)
c.1527C>T (p.Thr509=)
c.1323C>T (p.Thr441=)
7g.75985663A>CCA367750054PORc.1258A>C (p.Asn420His)
c.1384A>C (p.Asn462His)
c.1483A>C (p.Asn495His)
c.*109-397A>C (n.*109-397A>C)
c.697A>C (p.Asn233His)
c.1634A>C
c.*788A>C (n.*788A>C)
n.94A>C
n.857A>C
c.1537A>C (p.Asn513His)
c.1333A>C (p.Asn445His)
c.1474A>C (p.Asn492His)
c.1528A>C (p.Asn510His)
c.1324A>C (p.Asn442His)
7g.75985663A>GCA367750055PORc.1258A>G (p.Asn420Asp)
c.1384A>G (p.Asn462Asp)
c.1483A>G (p.Asn495Asp)
c.*109-397A>G (n.*109-397A>G)
c.697A>G (p.Asn233Asp)
c.1634A>G
c.*788A>G (n.*788A>G)
n.94A>G
n.857A>G
c.1537A>G (p.Asn513Asp)
c.1333A>G (p.Asn445Asp)
c.1474A>G (p.Asn492Asp)
c.1528A>G (p.Asn510Asp)
c.1324A>G (p.Asn442Asp)
7g.75985663A>TCA367750056PORc.1258A>T (p.Asn420Tyr)
c.1384A>T (p.Asn462Tyr)
c.1483A>T (p.Asn495Tyr)
c.*109-397A>T (n.*109-397A>T)
c.697A>T (p.Asn233Tyr)
c.1634A>T
c.*788A>T (n.*788A>T)
n.94A>T
n.857A>T
c.1537A>T (p.Asn513Tyr)
c.1333A>T (p.Asn445Tyr)
c.1474A>T (p.Asn492Tyr)
c.1528A>T (p.Asn510Tyr)
c.1324A>T (p.Asn442Tyr)
 gnomAD v4
7g.75985664A=CA1718180254PORc.1259A= (p.Asn420=)
c.1385A= (p.Asn462=)
c.1484A= (p.Asn495=)
c.*109-396A= (n.*109-396A=)
c.698A= (p.Asn233=)
c.1635A=
c.*789A= (n.*789A=)
n.95A=
n.858A=
c.1538A= (p.Asn513=)
c.1334A= (p.Asn445=)
c.1475A= (p.Asn492=)
c.1529A= (p.Asn510=)
c.1325A= (p.Asn442=)
7g.75985664A>CCA367750057PORc.1259A>C (p.Asn420Thr)
c.1385A>C (p.Asn462Thr)
c.1484A>C (p.Asn495Thr)
c.*109-396A>C (n.*109-396A>C)
c.698A>C (p.Asn233Thr)
c.1635A>C
c.*789A>C (n.*789A>C)
n.95A>C
n.858A>C
c.1538A>C (p.Asn513Thr)
c.1334A>C (p.Asn445Thr)
c.1475A>C (p.Asn492Thr)
c.1529A>C (p.Asn510Thr)
c.1325A>C (p.Asn442Thr)
7g.75985664A>GCA367750058PORc.1259A>G (p.Asn420Ser)
c.1385A>G (p.Asn462Ser)
c.1484A>G (p.Asn495Ser)
c.*109-396A>G (n.*109-396A>G)
c.698A>G (p.Asn233Ser)
c.1635A>G
c.*789A>G (n.*789A>G)
n.95A>G
n.858A>G
c.1538A>G (p.Asn513Ser)
c.1334A>G (p.Asn445Ser)
c.1475A>G (p.Asn492Ser)
c.1529A>G (p.Asn510Ser)
c.1325A>G (p.Asn442Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985664A>TCA367750059PORc.1259A>T (p.Asn420Ile)
c.1385A>T (p.Asn462Ile)
c.1484A>T (p.Asn495Ile)
c.*109-396A>T (n.*109-396A>T)
c.698A>T (p.Asn233Ile)
c.1635A>T
c.*789A>T (n.*789A>T)
n.95A>T
n.858A>T
c.1538A>T (p.Asn513Ile)
c.1334A>T (p.Asn445Ile)
c.1475A>T (p.Asn492Ile)
c.1529A>T (p.Asn510Ile)
c.1325A>T (p.Asn442Ile)
7g.75985665C>ACA367750060PORc.1260C>A (p.Asn420Lys)
c.1386C>A (p.Asn462Lys)
c.1485C>A (p.Asn495Lys)
c.*109-395C>A (n.*109-395C>A)
c.699C>A (p.Asn233Lys)
c.1636C>A
c.*790C>A (n.*790C>A)
n.96C>A
n.859C>A
c.1539C>A (p.Asn513Lys)
c.1335C>A (p.Asn445Lys)
c.1476C>A (p.Asn492Lys)
c.1530C>A (p.Asn510Lys)
c.1326C>A (p.Asn442Lys)
 dbSNP gnomAD v4
7g.75985665C=CA1718180255PORc.1260C= (p.Asn420=)
c.1386C= (p.Asn462=)
c.1485C= (p.Asn495=)
c.*109-395C= (n.*109-395C=)
c.699C= (p.Asn233=)
c.1636C=
c.*790C= (n.*790C=)
n.96C=
n.859C=
c.1539C= (p.Asn513=)
c.1335C= (p.Asn445=)
c.1476C= (p.Asn492=)
c.1530C= (p.Asn510=)
c.1326C= (p.Asn442=)
7g.75985665C>GCA367750061PORc.1260C>G (p.Asn420Lys)
c.1386C>G (p.Asn462Lys)
c.1485C>G (p.Asn495Lys)
c.*109-395C>G (n.*109-395C>G)
c.699C>G (p.Asn233Lys)
c.1636C>G
c.*790C>G (n.*790C>G)
n.96C>G
n.859C>G
c.1539C>G (p.Asn513Lys)
c.1335C>G (p.Asn445Lys)
c.1476C>G (p.Asn492Lys)
c.1530C>G (p.Asn510Lys)
c.1326C>G (p.Asn442Lys)
7g.75985665C>TCA456331096PORc.1260C>T (p.Asn420=)
c.1386C>T (p.Asn462=)
c.1485C>T (p.Asn495=)
c.*109-395C>T (n.*109-395C>T)
c.699C>T (p.Asn233=)
c.1636C>T
c.*790C>T (n.*790C>T)
n.96C>T
n.859C>T
c.1539C>T (p.Asn513=)
c.1335C>T (p.Asn445=)
c.1476C>T (p.Asn492=)
c.1530C>T (p.Asn510=)
c.1326C>T (p.Asn442=)
7g.75985666T>ACA367750062PORc.1261T>A (p.Trp421Arg)
c.1387T>A (p.Trp463Arg)
c.1486T>A (p.Trp496Arg)
c.*109-394T>A (n.*109-394T>A)
c.700T>A (p.Trp234Arg)
c.1637T>A
c.*791T>A (n.*791T>A)
n.97T>A
n.860T>A
c.1540T>A (p.Trp514Arg)
c.1336T>A (p.Trp446Arg)
c.1477T>A (p.Trp493Arg)
c.1531T>A (p.Trp511Arg)
c.1327T>A (p.Trp443Arg)
7g.75985666T>CCA367750063PORc.1261T>C (p.Trp421Arg)
c.1387T>C (p.Trp463Arg)
c.1486T>C (p.Trp496Arg)
c.*109-394T>C (n.*109-394T>C)
c.700T>C (p.Trp234Arg)
c.1637T>C
c.*791T>C (n.*791T>C)
n.97T>C
n.860T>C
c.1540T>C (p.Trp514Arg)
c.1336T>C (p.Trp446Arg)
c.1477T>C (p.Trp493Arg)
c.1531T>C (p.Trp511Arg)
c.1327T>C (p.Trp443Arg)
 ClinVar dbSNP
7g.75985666T>GCA367750064PORc.1261T>G (p.Trp421Gly)
c.1387T>G (p.Trp463Gly)
c.1486T>G (p.Trp496Gly)
c.*109-394T>G (n.*109-394T>G)
c.700T>G (p.Trp234Gly)
c.1637T>G
c.*791T>G (n.*791T>G)
n.97T>G
n.860T>G
c.1540T>G (p.Trp514Gly)
c.1336T>G (p.Trp446Gly)
c.1477T>G (p.Trp493Gly)
c.1531T>G (p.Trp511Gly)
c.1327T>G (p.Trp443Gly)
7g.75985667G>ACA367750067PORc.1262G>A (p.Trp421Ter)
c.1388G>A (p.Trp463Ter)
c.1487G>A (p.Trp496Ter)
c.*109-393G>A (n.*109-393G>A)
c.701G>A (p.Trp234Ter)
c.1638G>A
c.*792G>A (n.*792G>A)
n.98G>A
n.861G>A
c.1541G>A (p.Trp514Ter)
c.1337G>A (p.Trp446Ter)
c.1478G>A (p.Trp493Ter)
c.1532G>A (p.Trp511Ter)
c.1328G>A (p.Trp443Ter)
7g.75985667G>CCA367750066PORc.1262G>C (p.Trp421Ser)
c.1388G>C (p.Trp463Ser)
c.1487G>C (p.Trp496Ser)
c.*109-393G>C (n.*109-393G>C)
c.701G>C (p.Trp234Ser)
c.1638G>C
c.*792G>C (n.*792G>C)
n.98G>C
n.861G>C
c.1541G>C (p.Trp514Ser)
c.1337G>C (p.Trp446Ser)
c.1478G>C (p.Trp493Ser)
c.1532G>C (p.Trp511Ser)
c.1328G>C (p.Trp443Ser)
7g.75985667G>TCA367750065PORc.1262G>T (p.Trp421Leu)
c.1388G>T (p.Trp463Leu)
c.1487G>T (p.Trp496Leu)
c.*109-393G>T (n.*109-393G>T)
c.701G>T (p.Trp234Leu)
c.1638G>T
c.*792G>T (n.*792G>T)
n.98G>T
n.861G>T
c.1541G>T (p.Trp514Leu)
c.1337G>T (p.Trp446Leu)
c.1478G>T (p.Trp493Leu)
c.1532G>T (p.Trp511Leu)
c.1328G>T (p.Trp443Leu)
 gnomAD v4
7g.75985668G>ACA367750068PORc.1263G>A (p.Trp421Ter)
c.1389G>A (p.Trp463Ter)
c.1488G>A (p.Trp496Ter)
c.*109-392G>A (n.*109-392G>A)
c.702G>A (p.Trp234Ter)
c.1639G>A
c.*793G>A (n.*793G>A)
n.99G>A
n.862G>A
c.1542G>A (p.Trp514Ter)
c.1338G>A (p.Trp446Ter)
c.1479G>A (p.Trp493Ter)
c.1533G>A (p.Trp511Ter)
c.1329G>A (p.Trp443Ter)
7g.75985668G>CCA4304154PORc.1263G>C (p.Trp421Cys)
c.1389G>C (p.Trp463Cys)
c.1488G>C (p.Trp496Cys)
c.*109-392G>C (n.*109-392G>C)
c.702G>C (p.Trp234Cys)
c.1639G>C
c.*793G>C (n.*793G>C)
n.99G>C
n.862G>C
c.1542G>C (p.Trp514Cys)
c.1338G>C (p.Trp446Cys)
c.1479G>C (p.Trp493Cys)
c.1533G>C (p.Trp511Cys)
c.1329G>C (p.Trp443Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985668G=CA1718180256PORc.1263G= (p.Trp421=)
c.1389G= (p.Trp463=)
c.1488G= (p.Trp496=)
c.*109-392G= (n.*109-392G=)
c.702G= (p.Trp234=)
c.1639G=
c.*793G= (n.*793G=)
n.99G=
n.862G=
c.1542G= (p.Trp514=)
c.1338G= (p.Trp446=)
c.1479G= (p.Trp493=)
c.1533G= (p.Trp511=)
c.1329G= (p.Trp443=)
7g.75985668G>TCA367750069PORc.1263G>T (p.Trp421Cys)
c.1389G>T (p.Trp463Cys)
c.1488G>T (p.Trp496Cys)
c.*109-392G>T (n.*109-392G>T)
c.702G>T (p.Trp234Cys)
c.1639G>T
c.*793G>T (n.*793G>T)
n.99G>T
n.862G>T
c.1542G>T (p.Trp514Cys)
c.1338G>T (p.Trp446Cys)
c.1479G>T (p.Trp493Cys)
c.1533G>T (p.Trp511Cys)
c.1329G>T (p.Trp443Cys)
 gnomAD v4
7g.75985669C>ACA367750070PORc.1264C>A (p.Leu422Met)
c.1390C>A (p.Leu464Met)
c.1489C>A (p.Leu497Met)
c.*109-391C>A (n.*109-391C>A)
c.703C>A (p.Leu235Met)
c.1640C>A
c.*794C>A (n.*794C>A)
n.100C>A
n.863C>A
c.1543C>A (p.Leu515Met)
c.1339C>A (p.Leu447Met)
c.1480C>A (p.Leu494Met)
c.1534C>A (p.Leu512Met)
c.1330C>A (p.Leu444Met)
 gnomAD v4
7g.75985669C=CA1718180257PORc.1264C= (p.Leu422=)
c.1390C= (p.Leu464=)
c.1489C= (p.Leu497=)
c.*109-391C= (n.*109-391C=)
c.703C= (p.Leu235=)
c.1640C=
c.*794C= (n.*794C=)
n.100C=
n.863C=
c.1543C= (p.Leu515=)
c.1339C= (p.Leu447=)
c.1480C= (p.Leu494=)
c.1534C= (p.Leu512=)
c.1330C= (p.Leu444=)
7g.75985669C>GCA367750071PORc.1264C>G (p.Leu422Val)
c.1390C>G (p.Leu464Val)
c.1489C>G (p.Leu497Val)
c.*109-391C>G (n.*109-391C>G)
c.703C>G (p.Leu235Val)
c.1640C>G
c.*794C>G (n.*794C>G)
n.100C>G
n.863C>G
c.1543C>G (p.Leu515Val)
c.1339C>G (p.Leu447Val)
c.1480C>G (p.Leu494Val)
c.1534C>G (p.Leu512Val)
c.1330C>G (p.Leu444Val)
7g.75985669C>TCA160909244PORc.1264C>T (p.Leu422=)
c.1390C>T (p.Leu464=)
c.1489C>T (p.Leu497=)
c.*109-391C>T (n.*109-391C>T)
c.703C>T (p.Leu235=)
c.1640C>T
c.*794C>T (n.*794C>T)
n.100C>T
n.863C>T
c.1543C>T (p.Leu515=)
c.1339C>T (p.Leu447=)
c.1480C>T (p.Leu494=)
c.1534C>T (p.Leu512=)
c.1330C>T (p.Leu444=)
 dbSNP gnomAD v4
7g.75985670T>ACA367750072PORc.1265T>A (p.Leu422Gln)
c.1391T>A (p.Leu464Gln)
c.1490T>A (p.Leu497Gln)
c.*109-390T>A (n.*109-390T>A)
c.704T>A (p.Leu235Gln)
c.1641T>A
c.*795T>A (n.*795T>A)
n.101T>A
n.864T>A
c.1544T>A (p.Leu515Gln)
c.1340T>A (p.Leu447Gln)
c.1481T>A (p.Leu494Gln)
c.1535T>A (p.Leu512Gln)
c.1331T>A (p.Leu444Gln)
 gnomAD v4
7g.75985670T>CCA367750073PORc.1265T>C (p.Leu422Pro)
c.1391T>C (p.Leu464Pro)
c.1490T>C (p.Leu497Pro)
c.*109-390T>C (n.*109-390T>C)
c.704T>C (p.Leu235Pro)
c.1641T>C
c.*795T>C (n.*795T>C)
n.101T>C
n.864T>C
c.1544T>C (p.Leu515Pro)
c.1340T>C (p.Leu447Pro)
c.1481T>C (p.Leu494Pro)
c.1535T>C (p.Leu512Pro)
c.1331T>C (p.Leu444Pro)
 gnomAD v4
7g.75985670T>GCA367750074PORc.1265T>G (p.Leu422Arg)
c.1391T>G (p.Leu464Arg)
c.1490T>G (p.Leu497Arg)
c.*109-390T>G (n.*109-390T>G)
c.704T>G (p.Leu235Arg)
c.1641T>G
c.*795T>G (n.*795T>G)
n.101T>G
n.864T>G
c.1544T>G (p.Leu515Arg)
c.1340T>G (p.Leu447Arg)
c.1481T>G (p.Leu494Arg)
c.1535T>G (p.Leu512Arg)
c.1331T>G (p.Leu444Arg)
7g.75985671G>ACA456331097PORc.1266G>A (p.Leu422=)
c.1392G>A (p.Leu464=)
c.1491G>A (p.Leu497=)
c.*109-389G>A (n.*109-389G>A)
c.705G>A (p.Leu235=)
c.1642G>A
c.*796G>A (n.*796G>A)
n.102G>A
n.865G>A
c.1545G>A (p.Leu515=)
c.1341G>A (p.Leu447=)
c.1482G>A (p.Leu494=)
c.1536G>A (p.Leu512=)
c.1332G>A (p.Leu444=)
 ClinVar dbSNP gnomAD v4
7g.75985671G>CCA456331098PORc.1266G>C (p.Leu422=)
c.1392G>C (p.Leu464=)
c.1491G>C (p.Leu497=)
c.*109-389G>C (n.*109-389G>C)
c.705G>C (p.Leu235=)
c.1642G>C
c.*796G>C (n.*796G>C)
n.102G>C
n.865G>C
c.1545G>C (p.Leu515=)
c.1341G>C (p.Leu447=)
c.1482G>C (p.Leu494=)
c.1536G>C (p.Leu512=)
c.1332G>C (p.Leu444=)
7g.75985671G=CA1718180258PORc.1266G= (p.Leu422=)
c.1392G= (p.Leu464=)
c.1491G= (p.Leu497=)
c.*109-389G= (n.*109-389G=)
c.705G= (p.Leu235=)
c.1642G=
c.*796G= (n.*796G=)
n.102G=
n.865G=
c.1545G= (p.Leu515=)
c.1341G= (p.Leu447=)
c.1482G= (p.Leu494=)
c.1536G= (p.Leu512=)
c.1332G= (p.Leu444=)
7g.75985671G>TCA4304155PORc.1266G>T (p.Leu422=)
c.1392G>T (p.Leu464=)
c.1491G>T (p.Leu497=)
c.*109-389G>T (n.*109-389G>T)
c.705G>T (p.Leu235=)
c.1642G>T
c.*796G>T (n.*796G>T)
n.102G>T
n.865G>T
c.1545G>T (p.Leu515=)
c.1341G>T (p.Leu447=)
c.1482G>T (p.Leu494=)
c.1536G>T (p.Leu512=)
c.1332G>T (p.Leu444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985672C>ACA456331099PORc.1267C>A (p.Arg423=)
c.1393C>A (p.Arg465=)
c.1492C>A (p.Arg498=)
c.*109-388C>A (n.*109-388C>A)
c.706C>A (p.Arg236=)
c.1643C>A
c.*797C>A (n.*797C>A)
n.103C>A
n.866C>A
c.1546C>A (p.Arg516=)
c.1342C>A (p.Arg448=)
c.1483C>A (p.Arg495=)
c.1537C>A (p.Arg513=)
c.1333C>A (p.Arg445=)
 dbSNP gnomAD v2 gnomAD v4
7g.75985672C=CA1718180259PORc.1267C= (p.Arg423=)
c.1393C= (p.Arg465=)
c.1492C= (p.Arg498=)
c.*109-388C= (n.*109-388C=)
c.706C= (p.Arg236=)
c.1643C=
c.*797C= (n.*797C=)
n.103C=
n.866C=
c.1546C= (p.Arg516=)
c.1342C= (p.Arg448=)
c.1483C= (p.Arg495=)
c.1537C= (p.Arg513=)
c.1333C= (p.Arg445=)
7g.75985672C>GCA367750075PORc.1267C>G (p.Arg423Gly)
c.1393C>G (p.Arg465Gly)
c.1492C>G (p.Arg498Gly)
c.*109-388C>G (n.*109-388C>G)
c.706C>G (p.Arg236Gly)
c.1643C>G
c.*797C>G (n.*797C>G)
n.103C>G
n.866C>G
c.1546C>G (p.Arg516Gly)
c.1342C>G (p.Arg448Gly)
c.1483C>G (p.Arg495Gly)
c.1537C>G (p.Arg513Gly)
c.1333C>G (p.Arg445Gly)
7g.75985672C>TCA4304156PORc.1267C>T (p.Arg423Trp)
c.1393C>T (p.Arg465Trp)
c.1492C>T (p.Arg498Trp)
c.*109-388C>T (n.*109-388C>T)
c.706C>T (p.Arg236Trp)
c.1643C>T
c.*797C>T (n.*797C>T)
n.103C>T
n.866C>T
c.1546C>T (p.Arg516Trp)
c.1342C>T (p.Arg448Trp)
c.1483C>T (p.Arg495Trp)
c.1537C>T (p.Arg513Trp)
c.1333C>T (p.Arg445Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.75985673G>ACA4304157PORc.1268G>A (p.Arg423Gln)
c.1394G>A (p.Arg465Gln)
c.1493G>A (p.Arg498Gln)
c.*109-387G>A (n.*109-387G>A)
c.707G>A (p.Arg236Gln)
c.1644G>A
c.*798G>A (n.*798G>A)
n.104G>A
n.867G>A
c.1547G>A (p.Arg516Gln)
c.1343G>A (p.Arg448Gln)
c.1484G>A (p.Arg495Gln)
c.1538G>A (p.Arg513Gln)
c.1334G>A (p.Arg445Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985673G>CCA367750076PORc.1268G>C (p.Arg423Pro)
c.1394G>C (p.Arg465Pro)
c.1493G>C (p.Arg498Pro)
c.*109-387G>C (n.*109-387G>C)
c.707G>C (p.Arg236Pro)
c.1644G>C
c.*798G>C (n.*798G>C)
n.104G>C
n.867G>C
c.1547G>C (p.Arg516Pro)
c.1343G>C (p.Arg448Pro)
c.1484G>C (p.Arg495Pro)
c.1538G>C (p.Arg513Pro)
c.1334G>C (p.Arg445Pro)
 ClinVar
7g.75985673G=CA1718180260PORc.1268G= (p.Arg423=)
c.1394G= (p.Arg465=)
c.1493G= (p.Arg498=)
c.*109-387G= (n.*109-387G=)
c.707G= (p.Arg236=)
c.1644G=
c.*798G= (n.*798G=)
n.104G=
n.867G=
c.1547G= (p.Arg516=)
c.1343G= (p.Arg448=)
c.1484G= (p.Arg495=)
c.1538G= (p.Arg513=)
c.1334G= (p.Arg445=)
7g.75985673G>TCA367750077PORc.1268G>T (p.Arg423Leu)
c.1394G>T (p.Arg465Leu)
c.1493G>T (p.Arg498Leu)
c.*109-387G>T (n.*109-387G>T)
c.707G>T (p.Arg236Leu)
c.1644G>T
c.*798G>T (n.*798G>T)
n.104G>T
n.867G>T
c.1547G>T (p.Arg516Leu)
c.1343G>T (p.Arg448Leu)
c.1484G>T (p.Arg495Leu)
c.1538G>T (p.Arg513Leu)
c.1334G>T (p.Arg445Leu)
 gnomAD v4
7g.75985673_75985674insCCGTCCA1718180261PORc.1268_1269insCCGTC (p.Ala424ArgfsTer?)
c.1394_1395insCCGTC (p.Ala466ArgfsTer?)
c.1493_1494insCCGTC (p.Ala499ArgfsTer?)
c.*109-387_*109-386insCCGTC (n.*109-387_*109-386insCCGTC)
c.707_708insCCGTC (p.Ala237ArgfsTer?)
c.1644_1645insCCGTC
c.*798_*799insCCGTC (n.*798_*799insCCGTC)
n.104_105insCCGTC
n.867_868insCCGTC
c.1547_1548insCCGTC (p.Ala517ArgfsTer?)
c.1343_1344insCCGTC (p.Ala449ArgfsTer?)
c.1484_1485insCCGTC (p.Ala496ArgfsTer?)
c.1538_1539insCCGTC (p.Ala514ArgfsTer?)
c.1334_1335insCCGTC (p.Ala446ArgfsTer?)
 dbSNP
7g.75985674G>ACA456331100PORc.1269G>A (p.Arg423=)
c.1395G>A (p.Arg465=)
c.1494G>A (p.Arg498=)
c.*109-386G>A (n.*109-386G>A)
c.708G>A (p.Arg236=)
c.1645G>A
c.*799G>A (n.*799G>A)
n.105G>A
n.868G>A
c.1548G>A (p.Arg516=)
c.1344G>A (p.Arg448=)
c.1485G>A (p.Arg495=)
c.1539G>A (p.Arg513=)
c.1335G>A (p.Arg445=)
7g.75985674G>CCA456331101PORc.1269G>C (p.Arg423=)
c.1395G>C (p.Arg465=)
c.1494G>C (p.Arg498=)
c.*109-386G>C (n.*109-386G>C)
c.708G>C (p.Arg236=)
c.1645G>C
c.*799G>C (n.*799G>C)
n.105G>C
n.868G>C
c.1548G>C (p.Arg516=)
c.1344G>C (p.Arg448=)
c.1485G>C (p.Arg495=)
c.1539G>C (p.Arg513=)
c.1335G>C (p.Arg445=)
7g.75985674G>TCA456331102PORc.1269G>T (p.Arg423=)
c.1395G>T (p.Arg465=)
c.1494G>T (p.Arg498=)
c.*109-386G>T (n.*109-386G>T)
c.708G>T (p.Arg236=)
c.1645G>T
c.*799G>T (n.*799G>T)
n.105G>T
n.868G>T
c.1548G>T (p.Arg516=)
c.1344G>T (p.Arg448=)
c.1485G>T (p.Arg495=)
c.1539G>T (p.Arg513=)
c.1335G>T (p.Arg445=)
7g.75985675G>ACA367750078PORc.1270G>A (p.Ala424Thr)
c.1396G>A (p.Ala466Thr)
c.1495G>A (p.Ala499Thr)
c.*109-385G>A (n.*109-385G>A)
c.709G>A (p.Ala237Thr)
c.1646G>A
c.*800G>A (n.*800G>A)
n.106G>A
n.869G>A
c.1549G>A (p.Ala517Thr)
c.1345G>A (p.Ala449Thr)
c.1486G>A (p.Ala496Thr)
c.1540G>A (p.Ala514Thr)
c.1336G>A (p.Ala446Thr)
 dbSNP gnomAD v2
7g.75985675G>CCA367750079PORc.1270G>C (p.Ala424Pro)
c.1396G>C (p.Ala466Pro)
c.1495G>C (p.Ala499Pro)
c.*109-385G>C (n.*109-385G>C)
c.709G>C (p.Ala237Pro)
c.1646G>C
c.*800G>C (n.*800G>C)
n.106G>C
n.869G>C
c.1549G>C (p.Ala517Pro)
c.1345G>C (p.Ala449Pro)
c.1486G>C (p.Ala496Pro)
c.1540G>C (p.Ala514Pro)
c.1336G>C (p.Ala446Pro)
7g.75985675G=CA1718180262PORc.1270G= (p.Ala424=)
c.1396G= (p.Ala466=)
c.1495G= (p.Ala499=)
c.*109-385G= (n.*109-385G=)
c.709G= (p.Ala237=)
c.1646G=
c.*800G= (n.*800G=)
n.106G=
n.869G=
c.1549G= (p.Ala517=)
c.1345G= (p.Ala449=)
c.1486G= (p.Ala496=)
c.1540G= (p.Ala514=)
c.1336G= (p.Ala446=)
7g.75985675G>TCA367750080PORc.1270G>T (p.Ala424Ser)
c.1396G>T (p.Ala466Ser)
c.1495G>T (p.Ala499Ser)
c.*109-385G>T (n.*109-385G>T)
c.709G>T (p.Ala237Ser)
c.1646G>T
c.*800G>T (n.*800G>T)
n.106G>T
n.869G>T
c.1549G>T (p.Ala517Ser)
c.1345G>T (p.Ala449Ser)
c.1486G>T (p.Ala496Ser)
c.1540G>T (p.Ala514Ser)
c.1336G>T (p.Ala446Ser)
 dbSNP gnomAD v2 gnomAD v4
7g.75985676C>ACA367750081PORc.1271C>A (p.Ala424Asp)
c.1397C>A (p.Ala466Asp)
c.1496C>A (p.Ala499Asp)
c.*109-384C>A (n.*109-384C>A)
c.710C>A (p.Ala237Asp)
c.1647C>A
c.*801C>A (n.*801C>A)
n.107C>A
n.870C>A
c.1550C>A (p.Ala517Asp)
c.1346C>A (p.Ala449Asp)
c.1487C>A (p.Ala496Asp)
c.1541C>A (p.Ala514Asp)
c.1337C>A (p.Ala446Asp)
 gnomAD v4
7g.75985676C>GCA367750082PORc.1271C>G (p.Ala424Gly)
c.1397C>G (p.Ala466Gly)
c.1496C>G (p.Ala499Gly)
c.*109-384C>G (n.*109-384C>G)
c.710C>G (p.Ala237Gly)
c.1647C>G
c.*801C>G (n.*801C>G)
n.107C>G
n.870C>G
c.1550C>G (p.Ala517Gly)
c.1346C>G (p.Ala449Gly)
c.1487C>G (p.Ala496Gly)
c.1541C>G (p.Ala514Gly)
c.1337C>G (p.Ala446Gly)
7g.75985676C>TCA367750083PORc.1271C>T (p.Ala424Val)
c.1397C>T (p.Ala466Val)
c.1496C>T (p.Ala499Val)
c.*109-384C>T (n.*109-384C>T)
c.710C>T (p.Ala237Val)
c.1647C>T
c.*801C>T (n.*801C>T)
n.107C>T
n.870C>T
c.1550C>T (p.Ala517Val)
c.1346C>T (p.Ala449Val)
c.1487C>T (p.Ala496Val)
c.1541C>T (p.Ala514Val)
c.1337C>T (p.Ala446Val)
7g.75985677delCA2683383976PORc.1272del (p.Lys425ArgfsTer?)
c.1398del (p.Lys467ArgfsTer?)
c.1497del (p.Lys500ArgfsTer?)
c.*109-383del (n.*109-383del)
c.711del (p.Lys238ArgfsTer?)
c.1648del
c.*802del (n.*802del)
n.108del
n.871del
c.1551del (p.Lys518ArgfsTer?)
c.1347del (p.Lys450ArgfsTer?)
c.1488del (p.Lys497ArgfsTer?)
c.1542del (p.Lys515ArgfsTer?)
c.1338del (p.Lys447ArgfsTer?)
 gnomAD v4
7g.75985677C>ACA456331103PORc.1272C>A (p.Ala424=)
c.1398C>A (p.Ala466=)
c.1497C>A (p.Ala499=)
c.*109-383C>A (n.*109-383C>A)
c.711C>A (p.Ala237=)
c.1648C>A
c.*802C>A (n.*802C>A)
n.108C>A
n.871C>A
c.1551C>A (p.Ala517=)
c.1347C>A (p.Ala449=)
c.1488C>A (p.Ala496=)
c.1542C>A (p.Ala514=)
c.1338C>A (p.Ala446=)
 gnomAD v4
7g.75985677C>GCA456331105PORc.1272C>G (p.Ala424=)
c.1398C>G (p.Ala466=)
c.1497C>G (p.Ala499=)
c.*109-383C>G (n.*109-383C>G)
c.711C>G (p.Ala237=)
c.1648C>G
c.*802C>G (n.*802C>G)
n.108C>G
n.871C>G
c.1551C>G (p.Ala517=)
c.1347C>G (p.Ala449=)
c.1488C>G (p.Ala496=)
c.1542C>G (p.Ala514=)
c.1338C>G (p.Ala446=)
7g.75985677C>TCA456331104PORc.1272C>T (p.Ala424=)
c.1398C>T (p.Ala466=)
c.1497C>T (p.Ala499=)
c.*109-383C>T (n.*109-383C>T)
c.711C>T (p.Ala237=)
c.1648C>T
c.*802C>T (n.*802C>T)
n.108C>T
n.871C>T
c.1551C>T (p.Ala517=)
c.1347C>T (p.Ala449=)
c.1488C>T (p.Ala496=)
c.1542C>T (p.Ala514=)
c.1338C>T (p.Ala446=)
 gnomAD v4
7g.75985678A=CA1718180263PORc.1273A= (p.Lys425=)
c.1399A= (p.Lys467=)
c.1498A= (p.Lys500=)
c.*109-382A= (n.*109-382A=)
c.712A= (p.Lys238=)
c.1649A=
c.*803A= (n.*803A=)
n.109A=
n.872A=
c.1552A= (p.Lys518=)
c.1348A= (p.Lys450=)
c.1489A= (p.Lys497=)
c.1543A= (p.Lys515=)
c.1339A= (p.Lys447=)
7g.75985678A>CCA367750084PORc.1273A>C (p.Lys425Gln)
c.1399A>C (p.Lys467Gln)
c.1498A>C (p.Lys500Gln)
c.*109-382A>C (n.*109-382A>C)
c.712A>C (p.Lys238Gln)
c.1649A>C
c.*803A>C (n.*803A>C)
n.109A>C
n.872A>C
c.1552A>C (p.Lys518Gln)
c.1348A>C (p.Lys450Gln)
c.1489A>C (p.Lys497Gln)
c.1543A>C (p.Lys515Gln)
c.1339A>C (p.Lys447Gln)
7g.75985678A>GCA367750085PORc.1273A>G (p.Lys425Glu)
c.1399A>G (p.Lys467Glu)
c.1498A>G (p.Lys500Glu)
c.*109-382A>G (n.*109-382A>G)
c.712A>G (p.Lys238Glu)
c.1649A>G
c.*803A>G (n.*803A>G)
n.109A>G
n.872A>G
c.1552A>G (p.Lys518Glu)
c.1348A>G (p.Lys450Glu)
c.1489A>G (p.Lys497Glu)
c.1543A>G (p.Lys515Glu)
c.1339A>G (p.Lys447Glu)
7g.75985678A>TCA4304158PORc.1273A>T (p.Lys425Ter)
c.1399A>T (p.Lys467Ter)
c.1498A>T (p.Lys500Ter)
c.*109-382A>T (n.*109-382A>T)
c.712A>T (p.Lys238Ter)
c.1649A>T
c.*803A>T (n.*803A>T)
n.109A>T
n.872A>T
c.1552A>T (p.Lys518Ter)
c.1348A>T (p.Lys450Ter)
c.1489A>T (p.Lys497Ter)
c.1543A>T (p.Lys515Ter)
c.1339A>T (p.Lys447Ter)
 dbSNP ExAC
7g.75985679delCA2683383984PORc.1274del (p.Lys425ArgfsTer?)
c.1400del (p.Lys467ArgfsTer?)
c.1499del (p.Lys500ArgfsTer?)
c.*109-381del (n.*109-381del)
c.713del (p.Lys238ArgfsTer?)
c.1650del
c.*804del (n.*804del)
n.110del
n.873del
c.1553del (p.Lys518ArgfsTer?)
c.1349del (p.Lys450ArgfsTer?)
c.1490del (p.Lys497ArgfsTer?)
c.1544del (p.Lys515ArgfsTer?)
c.1340del (p.Lys447ArgfsTer?)
 gnomAD v4
7g.75985679A=CA1718180264PORc.1274A= (p.Lys425=)
c.1400A= (p.Lys467=)
c.1499A= (p.Lys500=)
c.*109-381A= (n.*109-381A=)
c.713A= (p.Lys238=)
c.1650A=
c.*804A= (n.*804A=)
n.110A=
n.873A=
c.1553A= (p.Lys518=)
c.1349A= (p.Lys450=)
c.1490A= (p.Lys497=)
c.1544A= (p.Lys515=)
c.1340A= (p.Lys447=)
7g.75985679A>CCA367750086PORc.1274A>C (p.Lys425Thr)
c.1400A>C (p.Lys467Thr)
c.1499A>C (p.Lys500Thr)
c.*109-381A>C (n.*109-381A>C)
c.713A>C (p.Lys238Thr)
c.1650A>C
c.*804A>C (n.*804A>C)
n.110A>C
n.873A>C
c.1553A>C (p.Lys518Thr)
c.1349A>C (p.Lys450Thr)
c.1490A>C (p.Lys497Thr)
c.1544A>C (p.Lys515Thr)
c.1340A>C (p.Lys447Thr)
7g.75985679A>GCA4304159PORc.1274A>G (p.Lys425Arg)
c.1400A>G (p.Lys467Arg)
c.1499A>G (p.Lys500Arg)
c.*109-381A>G (n.*109-381A>G)
c.713A>G (p.Lys238Arg)
c.1650A>G
c.*804A>G (n.*804A>G)
n.110A>G
n.873A>G
c.1553A>G (p.Lys518Arg)
c.1349A>G (p.Lys450Arg)
c.1490A>G (p.Lys497Arg)
c.1544A>G (p.Lys515Arg)
c.1340A>G (p.Lys447Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985679A>TCA367750087PORc.1274A>T (p.Lys425Met)
c.1400A>T (p.Lys467Met)
c.1499A>T (p.Lys500Met)
c.*109-381A>T (n.*109-381A>T)
c.713A>T (p.Lys238Met)
c.1650A>T
c.*804A>T (n.*804A>T)
n.110A>T
n.873A>T
c.1553A>T (p.Lys518Met)
c.1349A>T (p.Lys450Met)
c.1490A>T (p.Lys497Met)
c.1544A>T (p.Lys515Met)
c.1340A>T (p.Lys447Met)
 dbSNP gnomAD v3 gnomAD v4
7g.75985680G>ACA456331106PORc.1275G>A (p.Lys425=)
c.1401G>A (p.Lys467=)
c.1500G>A (p.Lys500=)
c.*109-380G>A (n.*109-380G>A)
c.714G>A (p.Lys238=)
c.1651G>A
c.*805G>A (n.*805G>A)
n.111G>A
n.874G>A
c.1554G>A (p.Lys518=)
c.1350G>A (p.Lys450=)
c.1491G>A (p.Lys497=)
c.1545G>A (p.Lys515=)
c.1341G>A (p.Lys447=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985680G>CCA367750088PORc.1275G>C (p.Lys425Asn)
c.1401G>C (p.Lys467Asn)
c.1500G>C (p.Lys500Asn)
c.*109-380G>C (n.*109-380G>C)
c.714G>C (p.Lys238Asn)
c.1651G>C
c.*805G>C (n.*805G>C)
n.111G>C
n.874G>C
c.1554G>C (p.Lys518Asn)
c.1350G>C (p.Lys450Asn)
c.1491G>C (p.Lys497Asn)
c.1545G>C (p.Lys515Asn)
c.1341G>C (p.Lys447Asn)
7g.75985680G=CA1718180265PORc.1275G= (p.Lys425=)
c.1401G= (p.Lys467=)
c.1500G= (p.Lys500=)
c.*109-380G= (n.*109-380G=)
c.714G= (p.Lys238=)
c.1651G=
c.*805G= (n.*805G=)
n.111G=
n.874G=
c.1554G= (p.Lys518=)
c.1350G= (p.Lys450=)
c.1491G= (p.Lys497=)
c.1545G= (p.Lys515=)
c.1341G= (p.Lys447=)
7g.75985680G>TCA4304160PORc.1275G>T (p.Lys425Asn)
c.1401G>T (p.Lys467Asn)
c.1500G>T (p.Lys500Asn)
c.*109-380G>T (n.*109-380G>T)
c.714G>T (p.Lys238Asn)
c.1651G>T
c.*805G>T (n.*805G>T)
n.111G>T
n.874G>T
c.1554G>T (p.Lys518Asn)
c.1350G>T (p.Lys450Asn)
c.1491G>T (p.Lys497Asn)
c.1545G>T (p.Lys515Asn)
c.1341G>T (p.Lys447Asn)
 dbSNP ExAC gnomAD v4
7g.75985681G>ACA4304161PORc.1276G>A (p.Glu426Lys)
c.1402G>A (p.Glu468Lys)
c.1501G>A (p.Glu501Lys)
c.*109-379G>A (n.*109-379G>A)
c.715G>A (p.Glu239Lys)
c.1652G>A
c.*806G>A (n.*806G>A)
n.112G>A
n.875G>A
c.1555G>A (p.Glu519Lys)
c.1351G>A (p.Glu451Lys)
c.1492G>A (p.Glu498Lys)
c.1546G>A (p.Glu516Lys)
c.1342G>A (p.Glu448Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985681G>CCA367750090PORc.1276G>C (p.Glu426Gln)
c.1402G>C (p.Glu468Gln)
c.1501G>C (p.Glu501Gln)
c.*109-379G>C (n.*109-379G>C)
c.715G>C (p.Glu239Gln)
c.1652G>C
c.*806G>C (n.*806G>C)
n.112G>C
n.875G>C
c.1555G>C (p.Glu519Gln)
c.1351G>C (p.Glu451Gln)
c.1492G>C (p.Glu498Gln)
c.1546G>C (p.Glu516Gln)
c.1342G>C (p.Glu448Gln)
 gnomAD v4
7g.75985681G=CA1718180266PORc.1276G= (p.Glu426=)
c.1402G= (p.Glu468=)
c.1501G= (p.Glu501=)
c.*109-379G= (n.*109-379G=)
c.715G= (p.Glu239=)
c.1652G=
c.*806G= (n.*806G=)
n.112G=
n.875G=
c.1555G= (p.Glu519=)
c.1351G= (p.Glu451=)
c.1492G= (p.Glu498=)
c.1546G= (p.Glu516=)
c.1342G= (p.Glu448=)
7g.75985681G>TCA367750089PORc.1276G>T (p.Glu426Ter)
c.1402G>T (p.Glu468Ter)
c.1501G>T (p.Glu501Ter)
c.*109-379G>T (n.*109-379G>T)
c.715G>T (p.Glu239Ter)
c.1652G>T
c.*806G>T (n.*806G>T)
n.112G>T
n.875G>T
c.1555G>T (p.Glu519Ter)
c.1351G>T (p.Glu451Ter)
c.1492G>T (p.Glu498Ter)
c.1546G>T (p.Glu516Ter)
c.1342G>T (p.Glu448Ter)
 ClinVar dbSNP gnomAD v4
7g.75985682A>CCA367750091PORc.1277A>C (p.Glu426Ala)
c.1403A>C (p.Glu468Ala)
c.1502A>C (p.Glu501Ala)
c.*109-378A>C (n.*109-378A>C)
c.716A>C (p.Glu239Ala)
c.1653A>C
c.*807A>C (n.*807A>C)
n.113A>C
n.876A>C
c.1556A>C (p.Glu519Ala)
c.1352A>C (p.Glu451Ala)
c.1493A>C (p.Glu498Ala)
c.1547A>C (p.Glu516Ala)
c.1343A>C (p.Glu448Ala)
7g.75985682A>GCA367750093PORc.1277A>G (p.Glu426Gly)
c.1403A>G (p.Glu468Gly)
c.1502A>G (p.Glu501Gly)
c.*109-378A>G (n.*109-378A>G)
c.716A>G (p.Glu239Gly)
c.1653A>G
c.*807A>G (n.*807A>G)
n.113A>G
n.876A>G
c.1556A>G (p.Glu519Gly)
c.1352A>G (p.Glu451Gly)
c.1493A>G (p.Glu498Gly)
c.1547A>G (p.Glu516Gly)
c.1343A>G (p.Glu448Gly)
 gnomAD v4
7g.75985682A>TCA367750092PORc.1277A>T (p.Glu426Val)
c.1403A>T (p.Glu468Val)
c.1502A>T (p.Glu501Val)
c.*109-378A>T (n.*109-378A>T)
c.716A>T (p.Glu239Val)
c.1653A>T
c.*807A>T (n.*807A>T)
n.113A>T
n.876A>T
c.1556A>T (p.Glu519Val)
c.1352A>T (p.Glu451Val)
c.1493A>T (p.Glu498Val)
c.1547A>T (p.Glu516Val)
c.1343A>T (p.Glu448Val)
7g.75985683G>ACA456331107PORc.1278G>A (p.Glu426=)
c.1404G>A (p.Glu468=)
c.1503G>A (p.Glu501=)
c.*109-377G>A (n.*109-377G>A)
c.717G>A (p.Glu239=)
c.1654G>A
c.*808G>A (n.*808G>A)
n.114G>A
n.877G>A
c.1557G>A (p.Glu519=)
c.1353G>A (p.Glu451=)
c.1494G>A (p.Glu498=)
c.1548G>A (p.Glu516=)
c.1344G>A (p.Glu448=)
 gnomAD v4
7g.75985683G>CCA367750094PORc.1278G>C (p.Glu426Asp)
c.1404G>C (p.Glu468Asp)
c.1503G>C (p.Glu501Asp)
c.*109-377G>C (n.*109-377G>C)
c.717G>C (p.Glu239Asp)
c.1654G>C
c.*808G>C (n.*808G>C)
n.114G>C
n.877G>C
c.1557G>C (p.Glu519Asp)
c.1353G>C (p.Glu451Asp)
c.1494G>C (p.Glu498Asp)
c.1548G>C (p.Glu516Asp)
c.1344G>C (p.Glu448Asp)
 dbSNP gnomAD v4
7g.75985683G=CA1718180267PORc.1278G= (p.Glu426=)
c.1404G= (p.Glu468=)
c.1503G= (p.Glu501=)
c.*109-377G= (n.*109-377G=)
c.717G= (p.Glu239=)
c.1654G=
c.*808G= (n.*808G=)
n.114G=
n.877G=
c.1557G= (p.Glu519=)
c.1353G= (p.Glu451=)
c.1494G= (p.Glu498=)
c.1548G= (p.Glu516=)
c.1344G= (p.Glu448=)
7g.75985683G>TCA4304162PORc.1278G>T (p.Glu426Asp)
c.1404G>T (p.Glu468Asp)
c.1503G>T (p.Glu501Asp)
c.*109-377G>T (n.*109-377G>T)
c.717G>T (p.Glu239Asp)
c.1654G>T
c.*808G>T (n.*808G>T)
n.114G>T
n.877G>T
c.1557G>T (p.Glu519Asp)
c.1353G>T (p.Glu451Asp)
c.1494G>T (p.Glu498Asp)
c.1548G>T (p.Glu516Asp)
c.1344G>T (p.Glu448Asp)
 dbSNP ExAC gnomAD v4 COSMIC COSMIC
7g.75985684C>ACA367750095PORc.1279C>A (p.Pro427Thr)
c.1405C>A (p.Pro469Thr)
c.1504C>A (p.Pro502Thr)
c.*109-376C>A (n.*109-376C>A)
c.718C>A (p.Pro240Thr)
c.1655C>A
c.*809C>A (n.*809C>A)
n.115C>A
n.878C>A
c.1558C>A (p.Pro520Thr)
c.1354C>A (p.Pro452Thr)
c.1495C>A (p.Pro499Thr)
c.1549C>A (p.Pro517Thr)
c.1345C>A (p.Pro449Thr)
 gnomAD v4
7g.75985684C=CA1718180268PORc.1279C= (p.Pro427=)
c.1405C= (p.Pro469=)
c.1504C= (p.Pro502=)
c.*109-376C= (n.*109-376C=)
c.718C= (p.Pro240=)
c.1655C=
c.*809C= (n.*809C=)
n.115C=
n.878C=
c.1558C= (p.Pro520=)
c.1354C= (p.Pro452=)
c.1495C= (p.Pro499=)
c.1549C= (p.Pro517=)
c.1345C= (p.Pro449=)
7g.75985684C>GCA367750096PORc.1279C>G (p.Pro427Ala)
c.1405C>G (p.Pro469Ala)
c.1504C>G (p.Pro502Ala)
c.*109-376C>G (n.*109-376C>G)
c.718C>G (p.Pro240Ala)
c.1655C>G
c.*809C>G (n.*809C>G)
n.115C>G
n.878C>G
c.1558C>G (p.Pro520Ala)
c.1354C>G (p.Pro452Ala)
c.1495C>G (p.Pro499Ala)
c.1549C>G (p.Pro517Ala)
c.1345C>G (p.Pro449Ala)
 gnomAD v4
7g.75985684C>TCA4304163PORc.1279C>T (p.Pro427Ser)
c.1405C>T (p.Pro469Ser)
c.1504C>T (p.Pro502Ser)
c.*109-376C>T (n.*109-376C>T)
c.718C>T (p.Pro240Ser)
c.1655C>T
c.*809C>T (n.*809C>T)
n.115C>T
n.878C>T
c.1558C>T (p.Pro520Ser)
c.1354C>T (p.Pro452Ser)
c.1495C>T (p.Pro499Ser)
c.1549C>T (p.Pro517Ser)
c.1345C>T (p.Pro449Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985685C>ACA367750097PORc.1280C>A (p.Pro427His)
c.1406C>A (p.Pro469His)
c.1505C>A (p.Pro502His)
c.*109-375C>A (n.*109-375C>A)
c.719C>A (p.Pro240His)
c.1656C>A
c.*810C>A (n.*810C>A)
n.116C>A
n.879C>A
c.1559C>A (p.Pro520His)
c.1355C>A (p.Pro452His)
c.1496C>A (p.Pro499His)
c.1550C>A (p.Pro517His)
c.1346C>A (p.Pro449His)
 gnomAD v4
7g.75985685C>GCA367750098PORc.1280C>G (p.Pro427Arg)
c.1406C>G (p.Pro469Arg)
c.1505C>G (p.Pro502Arg)
c.*109-375C>G (n.*109-375C>G)
c.719C>G (p.Pro240Arg)
c.1656C>G
c.*810C>G (n.*810C>G)
n.116C>G
n.879C>G
c.1559C>G (p.Pro520Arg)
c.1355C>G (p.Pro452Arg)
c.1496C>G (p.Pro499Arg)
c.1550C>G (p.Pro517Arg)
c.1346C>G (p.Pro449Arg)
7g.75985685C>TCA367750099PORc.1280C>T (p.Pro427Leu)
c.1406C>T (p.Pro469Leu)
c.1505C>T (p.Pro502Leu)
c.*109-375C>T (n.*109-375C>T)
c.719C>T (p.Pro240Leu)
c.1656C>T
c.*810C>T (n.*810C>T)
n.116C>T
n.879C>T
c.1559C>T (p.Pro520Leu)
c.1355C>T (p.Pro452Leu)
c.1496C>T (p.Pro499Leu)
c.1550C>T (p.Pro517Leu)
c.1346C>T (p.Pro449Leu)
7g.75985685_75985686delinsCTCA1718180269PORc.1280_1281delinsCT (p.Pro427=)
c.1406_1407delinsCT (p.Pro469=)
c.1505_1506delinsCT (p.Pro502=)
c.*109-375_*109-374delinsCT (n.*109-375_*109-374delinsCT)
c.719_720delinsCT (p.Pro240=)
c.1656_1657delinsCT
c.*810_*811delinsCT (n.*810_*811delinsCT)
n.116_117delinsCT
n.879_880delinsCT
c.1559_1560delinsCT (p.Pro520=)
c.1355_1356delinsCT (p.Pro452=)
c.1496_1497delinsCT (p.Pro499=)
c.1550_1551delinsCT (p.Pro517=)
c.1346_1347delinsCT (p.Pro449=)
7g.75985686delCA1103270667PORc.1281del (p.Ala428ProfsTer?)
c.1407del (p.Ala470ProfsTer?)
c.1506del (p.Ala503ProfsTer?)
c.*109-374del (n.*109-374del)
c.720del (p.Ala241ProfsTer?)
c.1657del
c.*811del (n.*811del)
n.117del
n.880del
c.1560del (p.Ala521ProfsTer?)
c.1356del (p.Ala453ProfsTer?)
c.1497del (p.Ala500ProfsTer?)
c.1551del (p.Ala518ProfsTer?)
c.1347del (p.Ala450ProfsTer?)
 dbSNP gnomAD v3 gnomAD v4
7g.75985686T>ACA456331108PORc.1281T>A (p.Pro427=)
c.1407T>A (p.Pro469=)
c.1506T>A (p.Pro502=)
c.*109-374T>A (n.*109-374T>A)
c.720T>A (p.Pro240=)
c.1657T>A
c.*811T>A (n.*811T>A)
n.117T>A
n.880T>A
c.1560T>A (p.Pro520=)
c.1356T>A (p.Pro452=)
c.1497T>A (p.Pro499=)
c.1551T>A (p.Pro517=)
c.1347T>A (p.Pro449=)
7g.75985686T>CCA456331109PORc.1281T>C (p.Pro427=)
c.1407T>C (p.Pro469=)
c.1506T>C (p.Pro502=)
c.*109-374T>C (n.*109-374T>C)
c.720T>C (p.Pro240=)
c.1657T>C
c.*811T>C (n.*811T>C)
n.117T>C
n.880T>C
c.1560T>C (p.Pro520=)
c.1356T>C (p.Pro452=)
c.1497T>C (p.Pro499=)
c.1551T>C (p.Pro517=)
c.1347T>C (p.Pro449=)
 gnomAD v4
7g.75985686T>GCA456331110PORc.1281T>G (p.Pro427=)
c.1407T>G (p.Pro469=)
c.1506T>G (p.Pro502=)
c.*109-374T>G (n.*109-374T>G)
c.720T>G (p.Pro240=)
c.1657T>G
c.*811T>G (n.*811T>G)
n.117T>G
n.880T>G
c.1560T>G (p.Pro520=)
c.1356T>G (p.Pro452=)
c.1497T>G (p.Pro499=)
c.1551T>G (p.Pro517=)
c.1347T>G (p.Pro449=)
7g.75985689_75985709dupCA2683384014PORc.1284_1304dup (p.Ala435_Leu436insGlyGluAsnGlyGlyArgAla)
c.1410_1430dup (p.Ala477_Leu478insGlyGluAsnGlyGlyArgAla)
c.1509_1529dup (p.Ala510_Leu511insGlyGluAsnGlyGlyArgAla)
c.*109-371_*109-351dup (n.*109-371_*109-351dup)
c.723_743dup (p.Ala248_Leu249insGlyGluAsnGlyGlyArgAla)
c.1660_1680dup
c.*814_*834dup (n.*814_*834dup)
n.120_140dup
n.883_903dup
c.1563_1583dup (p.Ala528_Leu529insGlyGluAsnGlyGlyArgAla)
c.1359_1379dup (p.Ala460_Leu461insGlyGluAsnGlyGlyArgAla)
c.1500_1520dup (p.Ala507_Leu508insGlyGluAsnGlyGlyArgAla)
c.1554_1574dup (p.Ala525_Leu526insGlyGluAsnGlyGlyArgAla)
c.1350_1370dup (p.Ala457_Leu458insGlyGluAsnGlyGlyArgAla)
 gnomAD v4
7g.75985687G>ACA367750100PORc.1282G>A (p.Ala428Thr)
c.1408G>A (p.Ala470Thr)
c.1507G>A (p.Ala503Thr)
c.*109-373G>A (n.*109-373G>A)
c.721G>A (p.Ala241Thr)
c.1658G>A
c.*812G>A (n.*812G>A)
n.118G>A
n.881G>A
c.1561G>A (p.Ala521Thr)
c.1357G>A (p.Ala453Thr)
c.1498G>A (p.Ala500Thr)
c.1552G>A (p.Ala518Thr)
c.1348G>A (p.Ala450Thr)
 dbSNP gnomAD v4
7g.75985687G>CCA4304164PORc.1282G>C (p.Ala428Pro)
c.1408G>C (p.Ala470Pro)
c.1507G>C (p.Ala503Pro)
c.*109-373G>C (n.*109-373G>C)
c.721G>C (p.Ala241Pro)
c.1658G>C
c.*812G>C (n.*812G>C)
n.118G>C
n.881G>C
c.1561G>C (p.Ala521Pro)
c.1357G>C (p.Ala453Pro)
c.1498G>C (p.Ala500Pro)
c.1552G>C (p.Ala518Pro)
c.1348G>C (p.Ala450Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985687G=CA1718180270PORc.1282G= (p.Ala428=)
c.1408G= (p.Ala470=)
c.1507G= (p.Ala503=)
c.*109-373G= (n.*109-373G=)
c.721G= (p.Ala241=)
c.1658G=
c.*812G= (n.*812G=)
n.118G=
n.881G=
c.1561G= (p.Ala521=)
c.1357G= (p.Ala453=)
c.1498G= (p.Ala500=)
c.1552G= (p.Ala518=)
c.1348G= (p.Ala450=)
7g.75985687G>TCA367750101PORc.1282G>T (p.Ala428Ser)
c.1408G>T (p.Ala470Ser)
c.1507G>T (p.Ala503Ser)
c.*109-373G>T (n.*109-373G>T)
c.721G>T (p.Ala241Ser)
c.1658G>T
c.*812G>T (n.*812G>T)
n.118G>T
n.881G>T
c.1561G>T (p.Ala521Ser)
c.1357G>T (p.Ala453Ser)
c.1498G>T (p.Ala500Ser)
c.1552G>T (p.Ala518Ser)
c.1348G>T (p.Ala450Ser)
 gnomAD v4
7g.75985688C>ACA367750103PORc.1283C>A (p.Ala428Asp)
c.1409C>A (p.Ala470Asp)
c.1508C>A (p.Ala503Asp)
c.*109-372C>A (n.*109-372C>A)
c.722C>A (p.Ala241Asp)
c.1659C>A
c.*813C>A (n.*813C>A)
n.119C>A
n.882C>A
c.1562C>A (p.Ala521Asp)
c.1358C>A (p.Ala453Asp)
c.1499C>A (p.Ala500Asp)
c.1553C>A (p.Ala518Asp)
c.1349C>A (p.Ala450Asp)
7g.75985688C=CA1718180271PORc.1283C= (p.Ala428=)
c.1409C= (p.Ala470=)
c.1508C= (p.Ala503=)
c.*109-372C= (n.*109-372C=)
c.722C= (p.Ala241=)
c.1659C=
c.*813C= (n.*813C=)
n.119C=
n.882C=
c.1562C= (p.Ala521=)
c.1358C= (p.Ala453=)
c.1499C= (p.Ala500=)
c.1553C= (p.Ala518=)
c.1349C= (p.Ala450=)
7g.75985688C>GCA367750102PORc.1283C>G (p.Ala428Gly)
c.1409C>G (p.Ala470Gly)
c.1508C>G (p.Ala503Gly)
c.*109-372C>G (n.*109-372C>G)
c.722C>G (p.Ala241Gly)
c.1659C>G
c.*813C>G (n.*813C>G)
n.119C>G
n.882C>G
c.1562C>G (p.Ala521Gly)
c.1358C>G (p.Ala453Gly)
c.1499C>G (p.Ala500Gly)
c.1553C>G (p.Ala518Gly)
c.1349C>G (p.Ala450Gly)
7g.75985688C>TCA4304165PORc.1283C>T (p.Ala428Val)
c.1409C>T (p.Ala470Val)
c.1508C>T (p.Ala503Val)
c.*109-372C>T (n.*109-372C>T)
c.722C>T (p.Ala241Val)
c.1659C>T
c.*813C>T (n.*813C>T)
n.119C>T
n.882C>T
c.1562C>T (p.Ala521Val)
c.1358C>T (p.Ala453Val)
c.1499C>T (p.Ala500Val)
c.1553C>T (p.Ala518Val)
c.1349C>T (p.Ala450Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched