Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36223379C>ACA373427098CLTA,GNEc.1498G>T (p.Gly500Ter)
c.1228G>T (p.Gly410Ter)
c.1405G>T (p.Gly469Ter)
c.485+19200C>A (n.485+19200C>A)
c.1075G>T (p.Gly359Ter)
c.1390G>T (p.Gly464Ter)
c.1345G>T (p.Gly449Ter)
c.1252G>T (p.Gly418Ter)
9g.36223379C>GCA373427099CLTA,GNEc.1498G>C (p.Gly500Arg)
c.1228G>C (p.Gly410Arg)
c.1405G>C (p.Gly469Arg)
c.485+19200C>G (n.485+19200C>G)
c.1075G>C (p.Gly359Arg)
c.1390G>C (p.Gly464Arg)
c.1345G>C (p.Gly449Arg)
c.1252G>C (p.Gly418Arg)
9g.36223379C>TCA373427101CLTA,GNEc.1498G>A (p.Gly500Arg)
c.1228G>A (p.Gly410Arg)
c.1405G>A (p.Gly469Arg)
c.485+19200C>T (n.485+19200C>T)
c.1075G>A (p.Gly359Arg)
c.1390G>A (p.Gly464Arg)
c.1345G>A (p.Gly449Arg)
c.1252G>A (p.Gly418Arg)
9g.36223380C>ACA373427104CLTA,GNEc.1497G>T (p.Leu499Phe)
c.1227G>T (p.Leu409Phe)
c.1404G>T (p.Leu468Phe)
c.485+19201C>A (n.485+19201C>A)
c.1074G>T (p.Leu358Phe)
c.1389G>T (p.Leu463Phe)
c.1344G>T (p.Leu448Phe)
c.1251G>T (p.Leu417Phe)
9g.36223380C>GCA373427102CLTA,GNEc.1497G>C (p.Leu499Phe)
c.1227G>C (p.Leu409Phe)
c.1404G>C (p.Leu468Phe)
c.485+19201C>G (n.485+19201C>G)
c.1074G>C (p.Leu358Phe)
c.1389G>C (p.Leu463Phe)
c.1344G>C (p.Leu448Phe)
c.1251G>C (p.Leu417Phe)
9g.36223380C>TCA464495322CLTA,GNEc.1497G>A (p.Leu499=)
c.1227G>A (p.Leu409=)
c.1404G>A (p.Leu468=)
c.485+19201C>T (n.485+19201C>T)
c.1074G>A (p.Leu358=)
c.1389G>A (p.Leu463=)
c.1344G>A (p.Leu448=)
c.1251G>A (p.Leu417=)
 COSMIC COSMIC COSMIC
9g.36223381A>CCA373427105CLTA,GNEc.1496T>G (p.Leu499Trp)
c.1226T>G (p.Leu409Trp)
c.1403T>G (p.Leu468Trp)
c.485+19202A>C (n.485+19202A>C)
c.1073T>G (p.Leu358Trp)
c.1388T>G (p.Leu463Trp)
c.1343T>G (p.Leu448Trp)
c.1250T>G (p.Leu417Trp)
9g.36223381A>GCA373427106CLTA,GNEc.1496T>C (p.Leu499Ser)
c.1226T>C (p.Leu409Ser)
c.1403T>C (p.Leu468Ser)
c.485+19202A>G (n.485+19202A>G)
c.1073T>C (p.Leu358Ser)
c.1388T>C (p.Leu463Ser)
c.1343T>C (p.Leu448Ser)
c.1250T>C (p.Leu417Ser)
 gnomAD v4
9g.36223381A>TCA373427107CLTA,GNEc.1496T>A (p.Leu499Ter)
c.1226T>A (p.Leu409Ter)
c.1403T>A (p.Leu468Ter)
c.485+19202A>T (n.485+19202A>T)
c.1073T>A (p.Leu358Ter)
c.1388T>A (p.Leu463Ter)
c.1343T>A (p.Leu448Ter)
c.1250T>A (p.Leu417Ter)
9g.36223382A>CCA373427108CLTA,GNEc.1495T>G (p.Leu499Val)
c.1225T>G (p.Leu409Val)
c.1402T>G (p.Leu468Val)
c.485+19203A>C (n.485+19203A>C)
c.1072T>G (p.Leu358Val)
c.1387T>G (p.Leu463Val)
c.1342T>G (p.Leu448Val)
c.1249T>G (p.Leu417Val)
9g.36223382A>GCA464495325CLTA,GNEc.1495T>C (p.Leu499=)
c.1225T>C (p.Leu409=)
c.1402T>C (p.Leu468=)
c.485+19203A>G (n.485+19203A>G)
c.1072T>C (p.Leu358=)
c.1387T>C (p.Leu463=)
c.1342T>C (p.Leu448=)
c.1249T>C (p.Leu417=)
9g.36223382A>TCA373427109CLTA,GNEc.1495T>A (p.Leu499Met)
c.1225T>A (p.Leu409Met)
c.1402T>A (p.Leu468Met)
c.485+19203A>T (n.485+19203A>T)
c.1072T>A (p.Leu358Met)
c.1387T>A (p.Leu463Met)
c.1342T>A (p.Leu448Met)
c.1249T>A (p.Leu417Met)
9g.36223383A>CCA373427110CLTA,GNEc.1494T>G (p.Ile498Met)
c.1224T>G (p.Ile408Met)
c.1401T>G (p.Ile467Met)
c.485+19204A>C (n.485+19204A>C)
c.1071T>G (p.Ile357Met)
c.1386T>G (p.Ile462Met)
c.1341T>G (p.Ile447Met)
c.1248T>G (p.Ile416Met)
9g.36223383A>GCA464495326CLTA,GNEc.1494T>C (p.Ile498=)
c.1224T>C (p.Ile408=)
c.1401T>C (p.Ile467=)
c.485+19204A>G (n.485+19204A>G)
c.1071T>C (p.Ile357=)
c.1386T>C (p.Ile462=)
c.1341T>C (p.Ile447=)
c.1248T>C (p.Ile416=)
9g.36223383A>TCA464495327CLTA,GNEc.1494T>A (p.Ile498=)
c.1224T>A (p.Ile408=)
c.1401T>A (p.Ile467=)
c.485+19204A>T (n.485+19204A>T)
c.1071T>A (p.Ile357=)
c.1386T>A (p.Ile462=)
c.1341T>A (p.Ile447=)
c.1248T>A (p.Ile416=)
9g.36223384A>CCA373427114CLTA,GNEc.1493T>G (p.Ile498Ser)
c.1223T>G (p.Ile408Ser)
c.1400T>G (p.Ile467Ser)
c.485+19205A>C (n.485+19205A>C)
c.1070T>G (p.Ile357Ser)
c.1385T>G (p.Ile462Ser)
c.1340T>G (p.Ile447Ser)
c.1247T>G (p.Ile416Ser)
9g.36223384A>GCA373427111CLTA,GNEc.1493T>C (p.Ile498Thr)
c.1223T>C (p.Ile408Thr)
c.1400T>C (p.Ile467Thr)
c.485+19205A>G (n.485+19205A>G)
c.1070T>C (p.Ile357Thr)
c.1385T>C (p.Ile462Thr)
c.1340T>C (p.Ile447Thr)
c.1247T>C (p.Ile416Thr)
9g.36223384A>TCA373427112CLTA,GNEc.1493T>A (p.Ile498Asn)
c.1223T>A (p.Ile408Asn)
c.1400T>A (p.Ile467Asn)
c.485+19205A>T (n.485+19205A>T)
c.1070T>A (p.Ile357Asn)
c.1385T>A (p.Ile462Asn)
c.1340T>A (p.Ile447Asn)
c.1247T>A (p.Ile416Asn)
9g.36223385T>ACA373427116CLTA,GNEc.1492A>T (p.Ile498Phe)
c.1222A>T (p.Ile408Phe)
c.1399A>T (p.Ile467Phe)
c.485+19206T>A (n.485+19206T>A)
c.1069A>T (p.Ile357Phe)
c.1384A>T (p.Ile462Phe)
c.1339A>T (p.Ile447Phe)
c.1246A>T (p.Ile416Phe)
9g.36223385T>CCA373427118CLTA,GNEc.1492A>G (p.Ile498Val)
c.1222A>G (p.Ile408Val)
c.1399A>G (p.Ile467Val)
c.485+19206T>C (n.485+19206T>C)
c.1069A>G (p.Ile357Val)
c.1384A>G (p.Ile462Val)
c.1339A>G (p.Ile447Val)
c.1246A>G (p.Ile416Val)
9g.36223385T>GCA373427120CLTA,GNEc.1492A>C (p.Ile498Leu)
c.1222A>C (p.Ile408Leu)
c.1399A>C (p.Ile467Leu)
c.485+19206T>G (n.485+19206T>G)
c.1069A>C (p.Ile357Leu)
c.1384A>C (p.Ile462Leu)
c.1339A>C (p.Ile447Leu)
c.1246A>C (p.Ile416Leu)
9g.36223386T>ACA373427122CLTA,GNEc.1491A>T (p.Arg497Ser)
c.1221A>T (p.Arg407Ser)
c.1398A>T (p.Arg466Ser)
c.485+19207T>A (n.485+19207T>A)
c.1068A>T (p.Arg356Ser)
c.1383A>T (p.Arg461Ser)
c.1338A>T (p.Arg446Ser)
c.1245A>T (p.Arg415Ser)
9g.36223386T>CCA464495329CLTA,GNEc.1491A>G (p.Arg497=)
c.1221A>G (p.Arg407=)
c.1398A>G (p.Arg466=)
c.485+19207T>C (n.485+19207T>C)
c.1068A>G (p.Arg356=)
c.1383A>G (p.Arg461=)
c.1338A>G (p.Arg446=)
c.1245A>G (p.Arg415=)
9g.36223386T>GCA373427124CLTA,GNEc.1491A>C (p.Arg497Ser)
c.1221A>C (p.Arg407Ser)
c.1398A>C (p.Arg466Ser)
c.485+19207T>G (n.485+19207T>G)
c.1068A>C (p.Arg356Ser)
c.1383A>C (p.Arg461Ser)
c.1338A>C (p.Arg446Ser)
c.1245A>C (p.Arg415Ser)
9g.36223387C>ACA373427127CLTA,GNEc.1490G>T (p.Arg497Ile)
c.1220G>T (p.Arg407Ile)
c.1397G>T (p.Arg466Ile)
c.485+19208C>A (n.485+19208C>A)
c.1067G>T (p.Arg356Ile)
c.1382G>T (p.Arg461Ile)
c.1337G>T (p.Arg446Ile)
c.1244G>T (p.Arg415Ile)
9g.36223387C=CA1846334351CLTA,GNEc.1490G= (p.Arg497=)
c.1220G= (p.Arg407=)
c.1397G= (p.Arg466=)
c.485+19208C= (n.485+19208C=)
c.1067G= (p.Arg356=)
c.1382G= (p.Arg461=)
c.1337G= (p.Arg446=)
c.1244G= (p.Arg415=)
9g.36223387C>GCA373427129CLTA,GNEc.1490G>C (p.Arg497Thr)
c.1220G>C (p.Arg407Thr)
c.1397G>C (p.Arg466Thr)
c.485+19208C>G (n.485+19208C>G)
c.1067G>C (p.Arg356Thr)
c.1382G>C (p.Arg461Thr)
c.1337G>C (p.Arg446Thr)
c.1244G>C (p.Arg415Thr)
9g.36223387C>TCA373427132CLTA,GNEc.1490G>A (p.Arg497Lys)
c.1220G>A (p.Arg407Lys)
c.1397G>A (p.Arg466Lys)
c.485+19208C>T (n.485+19208C>T)
c.1067G>A (p.Arg356Lys)
c.1382G>A (p.Arg461Lys)
c.1337G>A (p.Arg446Lys)
c.1244G>A (p.Arg415Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
9g.36223388T>ACA373427134CLTA,GNEc.1489A>T (p.Arg497Ter)
c.1219A>T (p.Arg407Ter)
c.1396A>T (p.Arg466Ter)
c.485+19209T>A (n.485+19209T>A)
c.1066A>T (p.Arg356Ter)
c.1381A>T (p.Arg461Ter)
c.1336A>T (p.Arg446Ter)
c.1243A>T (p.Arg415Ter)
9g.36223388T>CCA373427136CLTA,GNEc.1489A>G (p.Arg497Gly)
c.1219A>G (p.Arg407Gly)
c.1396A>G (p.Arg466Gly)
c.485+19209T>C (n.485+19209T>C)
c.1066A>G (p.Arg356Gly)
c.1381A>G (p.Arg461Gly)
c.1336A>G (p.Arg446Gly)
c.1243A>G (p.Arg415Gly)
9g.36223388T>GCA464495331CLTA,GNEc.1489A>C (p.Arg497=)
c.1219A>C (p.Arg407=)
c.1396A>C (p.Arg466=)
c.485+19209T>G (n.485+19209T>G)
c.1066A>C (p.Arg356=)
c.1381A>C (p.Arg461=)
c.1336A>C (p.Arg446=)
c.1243A>C (p.Arg415=)
9g.36223389G>ACA464495332CLTA,GNEc.1488C>T (p.Cys496=)
c.1218C>T (p.Cys406=)
c.1395C>T (p.Cys465=)
c.485+19210G>A (n.485+19210G>A)
c.1065C>T (p.Cys355=)
c.1380C>T (p.Cys460=)
c.1335C>T (p.Cys445=)
c.1242C>T (p.Cys414=)
9g.36223389G>CCA373427137CLTA,GNEc.1488C>G (p.Cys496Trp)
c.1218C>G (p.Cys406Trp)
c.1395C>G (p.Cys465Trp)
c.485+19210G>C (n.485+19210G>C)
c.1065C>G (p.Cys355Trp)
c.1380C>G (p.Cys460Trp)
c.1335C>G (p.Cys445Trp)
c.1242C>G (p.Cys414Trp)
9g.36223389G>TCA373427138CLTA,GNEc.1488C>A (p.Cys496Ter)
c.1218C>A (p.Cys406Ter)
c.1395C>A (p.Cys465Ter)
c.485+19210G>T (n.485+19210G>T)
c.1065C>A (p.Cys355Ter)
c.1380C>A (p.Cys460Ter)
c.1335C>A (p.Cys445Ter)
c.1242C>A (p.Cys414Ter)
9g.36223389_36223394delinsGCAGTTCA1846334355CLTA,GNEc.1483_1488delinsAACTGC (p.Asn495=)
c.1213_1218delinsAACTGC (p.Asn405=)
c.1390_1395delinsAACTGC (p.Asn464=)
c.485+19210_485+19215delinsGCAGTT (n.485+19210_485+19215delinsGCAGTT)
c.1060_1065delinsAACTGC (p.Asn354=)
c.1375_1380delinsAACTGC (p.Asn459=)
c.1330_1335delinsAACTGC (p.Asn444=)
c.1237_1242delinsAACTGC (p.Asn413=)
9g.36223390C>ACA373427140CLTA,GNEc.1487G>T (p.Cys496Phe)
c.1217G>T (p.Cys406Phe)
c.1394G>T (p.Cys465Phe)
c.485+19211C>A (n.485+19211C>A)
c.1064G>T (p.Cys355Phe)
c.1379G>T (p.Cys460Phe)
c.1334G>T (p.Cys445Phe)
c.1241G>T (p.Cys414Phe)
9g.36223390C>GCA373427143CLTA,GNEc.1487G>C (p.Cys496Ser)
c.1217G>C (p.Cys406Ser)
c.1394G>C (p.Cys465Ser)
c.485+19211C>G (n.485+19211C>G)
c.1064G>C (p.Cys355Ser)
c.1379G>C (p.Cys460Ser)
c.1334G>C (p.Cys445Ser)
c.1241G>C (p.Cys414Ser)
9g.36223390C>TCA373427141CLTA,GNEc.1487G>A (p.Cys496Tyr)
c.1217G>A (p.Cys406Tyr)
c.1394G>A (p.Cys465Tyr)
c.485+19211C>T (n.485+19211C>T)
c.1064G>A (p.Cys355Tyr)
c.1379G>A (p.Cys460Tyr)
c.1334G>A (p.Cys445Tyr)
c.1241G>A (p.Cys414Tyr)
9g.36223395_36223399delCA1123243690CLTA,GNEc.1483_1487del (p.Asn495GlnfsTer?)
c.1213_1217del (p.Asn405GlnfsTer?)
c.1390_1394del (p.Asn464GlnfsTer?)
c.1390_1394del (p.Asn464GlnfsTer16)
c.485+19216_485+19220del (n.485+19216_485+19220del)
c.1060_1064del (p.Asn354GlnfsTer?)
c.1375_1379del (p.Asn459GlnfsTer?)
c.1330_1334del (p.Asn444GlnfsTer?)
c.1237_1241del (p.Asn413GlnfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.36223391A>CCA373427145CLTA,GNEc.1486T>G (p.Cys496Gly)
c.1216T>G (p.Cys406Gly)
c.1393T>G (p.Cys465Gly)
c.485+19212A>C (n.485+19212A>C)
c.1063T>G (p.Cys355Gly)
c.1378T>G (p.Cys460Gly)
c.1333T>G (p.Cys445Gly)
c.1240T>G (p.Cys414Gly)
9g.36223391A>GCA373427148CLTA,GNEc.1486T>C (p.Cys496Arg)
c.1216T>C (p.Cys406Arg)
c.1393T>C (p.Cys465Arg)
c.485+19212A>G (n.485+19212A>G)
c.1063T>C (p.Cys355Arg)
c.1378T>C (p.Cys460Arg)
c.1333T>C (p.Cys445Arg)
c.1240T>C (p.Cys414Arg)
9g.36223391A>TCA373427149CLTA,GNEc.1486T>A (p.Cys496Ser)
c.1216T>A (p.Cys406Ser)
c.1393T>A (p.Cys465Ser)
c.485+19212A>T (n.485+19212A>T)
c.1063T>A (p.Cys355Ser)
c.1378T>A (p.Cys460Ser)
c.1333T>A (p.Cys445Ser)
c.1240T>A (p.Cys414Ser)
9g.36223392G>ACA464495334CLTA,GNEc.1485C>T (p.Asn495=)
c.1215C>T (p.Asn405=)
c.1392C>T (p.Asn464=)
c.485+19213G>A (n.485+19213G>A)
c.1062C>T (p.Asn354=)
c.1377C>T (p.Asn459=)
c.1332C>T (p.Asn444=)
c.1239C>T (p.Asn413=)
9g.36223392G>CCA373427151CLTA,GNEc.1485C>G (p.Asn495Lys)
c.1215C>G (p.Asn405Lys)
c.1392C>G (p.Asn464Lys)
c.485+19213G>C (n.485+19213G>C)
c.1062C>G (p.Asn354Lys)
c.1377C>G (p.Asn459Lys)
c.1332C>G (p.Asn444Lys)
c.1239C>G (p.Asn413Lys)
9g.36223392G>TCA373427154CLTA,GNEc.1485C>A (p.Asn495Lys)
c.1215C>A (p.Asn405Lys)
c.1392C>A (p.Asn464Lys)
c.485+19213G>T (n.485+19213G>T)
c.1062C>A (p.Asn354Lys)
c.1377C>A (p.Asn459Lys)
c.1332C>A (p.Asn444Lys)
c.1239C>A (p.Asn413Lys)
9g.36223393T>ACA373427157CLTA,GNEc.1484A>T (p.Asn495Ile)
c.1214A>T (p.Asn405Ile)
c.1391A>T (p.Asn464Ile)
c.485+19214T>A (n.485+19214T>A)
c.1061A>T (p.Asn354Ile)
c.1376A>T (p.Asn459Ile)
c.1331A>T (p.Asn444Ile)
c.1238A>T (p.Asn413Ile)
9g.36223393T>CCA373427158CLTA,GNEc.1484A>G (p.Asn495Ser)
c.1214A>G (p.Asn405Ser)
c.1391A>G (p.Asn464Ser)
c.485+19214T>C (n.485+19214T>C)
c.1061A>G (p.Asn354Ser)
c.1376A>G (p.Asn459Ser)
c.1331A>G (p.Asn444Ser)
c.1238A>G (p.Asn413Ser)
 gnomAD v4
9g.36223393T>GCA373427160CLTA,GNEc.1484A>C (p.Asn495Thr)
c.1214A>C (p.Asn405Thr)
c.1391A>C (p.Asn464Thr)
c.485+19214T>G (n.485+19214T>G)
c.1061A>C (p.Asn354Thr)
c.1376A>C (p.Asn459Thr)
c.1331A>C (p.Asn444Thr)
c.1238A>C (p.Asn413Thr)
9g.36223394T>ACA373427162CLTA,GNEc.1483A>T (p.Asn495Tyr)
c.1213A>T (p.Asn405Tyr)
c.1390A>T (p.Asn464Tyr)
c.485+19215T>A (n.485+19215T>A)
c.1060A>T (p.Asn354Tyr)
c.1375A>T (p.Asn459Tyr)
c.1330A>T (p.Asn444Tyr)
c.1237A>T (p.Asn413Tyr)
9g.36223394T>CCA373427164CLTA,GNEc.1483A>G (p.Asn495Asp)
c.1213A>G (p.Asn405Asp)
c.1390A>G (p.Asn464Asp)
c.485+19215T>C (n.485+19215T>C)
c.1060A>G (p.Asn354Asp)
c.1375A>G (p.Asn459Asp)
c.1330A>G (p.Asn444Asp)
c.1237A>G (p.Asn413Asp)
9g.36223394T>GCA373427166CLTA,GNEc.1483A>C (p.Asn495His)
c.1213A>C (p.Asn405His)
c.1390A>C (p.Asn464His)
c.485+19215T>G (n.485+19215T>G)
c.1060A>C (p.Asn354His)
c.1375A>C (p.Asn459His)
c.1330A>C (p.Asn444His)
c.1237A>C (p.Asn413His)
9g.36223395C>ACA464495338CLTA,GNEc.1482G>T (p.Leu494=)
c.1212G>T (p.Leu404=)
c.1389G>T (p.Leu463=)
c.485+19216C>A (n.485+19216C>A)
c.1059G>T (p.Leu353=)
c.1374G>T (p.Leu458=)
c.1329G>T (p.Leu443=)
c.1236G>T (p.Leu412=)
9g.36223395C>GCA464495339CLTA,GNEc.1482G>C (p.Leu494=)
c.1212G>C (p.Leu404=)
c.1389G>C (p.Leu463=)
c.485+19216C>G (n.485+19216C>G)
c.1059G>C (p.Leu353=)
c.1374G>C (p.Leu458=)
c.1329G>C (p.Leu443=)
c.1236G>C (p.Leu412=)
9g.36223395C>TCA464495340CLTA,GNEc.1482G>A (p.Leu494=)
c.1212G>A (p.Leu404=)
c.1389G>A (p.Leu463=)
c.485+19216C>T (n.485+19216C>T)
c.1059G>A (p.Leu353=)
c.1374G>A (p.Leu458=)
c.1329G>A (p.Leu443=)
c.1236G>A (p.Leu412=)
9g.36223396A>CCA373427168CLTA,GNEc.1481T>G (p.Leu494Arg)
c.1211T>G (p.Leu404Arg)
c.1388T>G (p.Leu463Arg)
c.485+19217A>C (n.485+19217A>C)
c.1058T>G (p.Leu353Arg)
c.1373T>G (p.Leu458Arg)
c.1328T>G (p.Leu443Arg)
c.1235T>G (p.Leu412Arg)
9g.36223396A>GCA373427169CLTA,GNEc.1481T>C (p.Leu494Pro)
c.1211T>C (p.Leu404Pro)
c.1388T>C (p.Leu463Pro)
c.485+19217A>G (n.485+19217A>G)
c.1058T>C (p.Leu353Pro)
c.1373T>C (p.Leu458Pro)
c.1328T>C (p.Leu443Pro)
c.1235T>C (p.Leu412Pro)
9g.36223396A>TCA373427170CLTA,GNEc.1481T>A (p.Leu494Gln)
c.1211T>A (p.Leu404Gln)
c.1388T>A (p.Leu463Gln)
c.485+19217A>T (n.485+19217A>T)
c.1058T>A (p.Leu353Gln)
c.1373T>A (p.Leu458Gln)
c.1328T>A (p.Leu443Gln)
c.1235T>A (p.Leu412Gln)
9g.36223397G>ACA464495344CLTA,GNEc.1480C>T (p.Leu494=)
c.1210C>T (p.Leu404=)
c.1387C>T (p.Leu463=)
c.485+19218G>A (n.485+19218G>A)
c.1057C>T (p.Leu353=)
c.1372C>T (p.Leu458=)
c.1327C>T (p.Leu443=)
c.1234C>T (p.Leu412=)
 ClinVar
9g.36223397G>CCA373427175CLTA,GNEc.1480C>G (p.Leu494Val)
c.1210C>G (p.Leu404Val)
c.1387C>G (p.Leu463Val)
c.485+19218G>C (n.485+19218G>C)
c.1057C>G (p.Leu353Val)
c.1372C>G (p.Leu458Val)
c.1327C>G (p.Leu443Val)
c.1234C>G (p.Leu412Val)
 ClinVar gnomAD v4
9g.36223397G>TCA373427173CLTA,GNEc.1480C>A (p.Leu494Met)
c.1210C>A (p.Leu404Met)
c.1387C>A (p.Leu463Met)
c.485+19218G>T (n.485+19218G>T)
c.1057C>A (p.Leu353Met)
c.1372C>A (p.Leu458Met)
c.1327C>A (p.Leu443Met)
c.1234C>A (p.Leu412Met)
9g.36223398T>ACA373427176CLTA,GNEc.1479A>T (p.Lys493Asn)
c.1209A>T (p.Lys403Asn)
c.1386A>T (p.Lys462Asn)
c.485+19219T>A (n.485+19219T>A)
c.1056A>T (p.Lys352Asn)
c.1371A>T (p.Lys457Asn)
c.1326A>T (p.Lys442Asn)
c.1233A>T (p.Lys411Asn)
 gnomAD v4
9g.36223398T>CCA464495345CLTA,GNEc.1479A>G (p.Lys493=)
c.1209A>G (p.Lys403=)
c.1386A>G (p.Lys462=)
c.485+19219T>C (n.485+19219T>C)
c.1056A>G (p.Lys352=)
c.1371A>G (p.Lys457=)
c.1326A>G (p.Lys442=)
c.1233A>G (p.Lys411=)
9g.36223398T>GCA373427179CLTA,GNEc.1479A>C (p.Lys493Asn)
c.1209A>C (p.Lys403Asn)
c.1386A>C (p.Lys462Asn)
c.485+19219T>G (n.485+19219T>G)
c.1056A>C (p.Lys352Asn)
c.1371A>C (p.Lys457Asn)
c.1326A>C (p.Lys442Asn)
c.1233A>C (p.Lys411Asn)
9g.36223399T>ACA373427182CLTA,GNEc.1478A>T (p.Lys493Ile)
c.1208A>T (p.Lys403Ile)
c.1385A>T (p.Lys462Ile)
c.485+19220T>A (n.485+19220T>A)
c.1055A>T (p.Lys352Ile)
c.1370A>T (p.Lys457Ile)
c.1325A>T (p.Lys442Ile)
c.1232A>T (p.Lys411Ile)
9g.36223399T>CCA373427184CLTA,GNEc.1478A>G (p.Lys493Arg)
c.1208A>G (p.Lys403Arg)
c.1385A>G (p.Lys462Arg)
c.485+19220T>C (n.485+19220T>C)
c.1055A>G (p.Lys352Arg)
c.1370A>G (p.Lys457Arg)
c.1325A>G (p.Lys442Arg)
c.1232A>G (p.Lys411Arg)
9g.36223399T>GCA373427187CLTA,GNEc.1478A>C (p.Lys493Thr)
c.1208A>C (p.Lys403Thr)
c.1385A>C (p.Lys462Thr)
c.485+19220T>G (n.485+19220T>G)
c.1055A>C (p.Lys352Thr)
c.1370A>C (p.Lys457Thr)
c.1325A>C (p.Lys442Thr)
c.1232A>C (p.Lys411Thr)
9g.36223400T>ACA373427199CLTA,GNEc.1477A>T (p.Lys493Ter)
c.1207A>T (p.Lys403Ter)
c.1384A>T (p.Lys462Ter)
c.485+19221T>A (n.485+19221T>A)
c.1054A>T (p.Lys352Ter)
c.1369A>T (p.Lys457Ter)
c.1324A>T (p.Lys442Ter)
c.1231A>T (p.Lys411Ter)
9g.36223400T>CCA373427191CLTA,GNEc.1477A>G (p.Lys493Glu)
c.1207A>G (p.Lys403Glu)
c.1384A>G (p.Lys462Glu)
c.485+19221T>C (n.485+19221T>C)
c.1054A>G (p.Lys352Glu)
c.1369A>G (p.Lys457Glu)
c.1324A>G (p.Lys442Glu)
c.1231A>G (p.Lys411Glu)
9g.36223400T>GCA373427189CLTA,GNEc.1477A>C (p.Lys493Gln)
c.1207A>C (p.Lys403Gln)
c.1384A>C (p.Lys462Gln)
c.485+19221T>G (n.485+19221T>G)
c.1054A>C (p.Lys352Gln)
c.1369A>C (p.Lys457Gln)
c.1324A>C (p.Lys442Gln)
c.1231A>C (p.Lys411Gln)
9g.36223401T>ACA464495349CLTA,GNEc.1476A>T (p.Val492=)
c.1206A>T (p.Val402=)
c.1383A>T (p.Val461=)
c.485+19222T>A (n.485+19222T>A)
c.1053A>T (p.Val351=)
c.1368A>T (p.Val456=)
c.1323A>T (p.Val441=)
c.1230A>T (p.Val410=)
9g.36223401T>CCA464495350CLTA,GNEc.1476A>G (p.Val492=)
c.1206A>G (p.Val402=)
c.1383A>G (p.Val461=)
c.485+19222T>C (n.485+19222T>C)
c.1053A>G (p.Val351=)
c.1368A>G (p.Val456=)
c.1323A>G (p.Val441=)
c.1230A>G (p.Val410=)
9g.36223401T>GCA464495351CLTA,GNEc.1476A>C (p.Val492=)
c.1206A>C (p.Val402=)
c.1383A>C (p.Val461=)
c.485+19222T>G (n.485+19222T>G)
c.1053A>C (p.Val351=)
c.1368A>C (p.Val456=)
c.1323A>C (p.Val441=)
c.1230A>C (p.Val410=)
9g.36223402A>CCA373427202CLTA,GNEc.1475T>G (p.Val492Gly)
c.1205T>G (p.Val402Gly)
c.1382T>G (p.Val461Gly)
c.485+19223A>C (n.485+19223A>C)
c.1052T>G (p.Val351Gly)
c.1367T>G (p.Val456Gly)
c.1322T>G (p.Val441Gly)
c.1229T>G (p.Val410Gly)
9g.36223402A>GCA373427205CLTA,GNEc.1475T>C (p.Val492Ala)
c.1205T>C (p.Val402Ala)
c.1382T>C (p.Val461Ala)
c.485+19223A>G (n.485+19223A>G)
c.1052T>C (p.Val351Ala)
c.1367T>C (p.Val456Ala)
c.1322T>C (p.Val441Ala)
c.1229T>C (p.Val410Ala)
9g.36223402A>TCA373427206CLTA,GNEc.1475T>A (p.Val492Glu)
c.1205T>A (p.Val402Glu)
c.1382T>A (p.Val461Glu)
c.485+19223A>T (n.485+19223A>T)
c.1052T>A (p.Val351Glu)
c.1367T>A (p.Val456Glu)
c.1322T>A (p.Val441Glu)
c.1229T>A (p.Val410Glu)
9g.36223403C>ACA373427209CLTA,GNEc.1474G>T (p.Val492Leu)
c.1204G>T (p.Val402Leu)
c.1381G>T (p.Val461Leu)
c.485+19224C>A (n.485+19224C>A)
c.1051G>T (p.Val351Leu)
c.1366G>T (p.Val456Leu)
c.1321G>T (p.Val441Leu)
c.1228G>T (p.Val410Leu)
9g.36223403C=CA1846334377CLTA,GNEc.1474G= (p.Val492=)
c.1204G= (p.Val402=)
c.1381G= (p.Val461=)
c.485+19224C= (n.485+19224C=)
c.1051G= (p.Val351=)
c.1366G= (p.Val456=)
c.1321G= (p.Val441=)
c.1228G= (p.Val410=)
9g.36223403C>GCA373427210CLTA,GNEc.1474G>C (p.Val492Leu)
c.1204G>C (p.Val402Leu)
c.1381G>C (p.Val461Leu)
c.485+19224C>G (n.485+19224C>G)
c.1051G>C (p.Val351Leu)
c.1366G>C (p.Val456Leu)
c.1321G>C (p.Val441Leu)
c.1228G>C (p.Val410Leu)
9g.36223403C>TCA373427213CLTA,GNEc.1474G>A (p.Val492Ile)
c.1204G>A (p.Val402Ile)
c.1381G>A (p.Val461Ile)
c.485+19224C>T (n.485+19224C>T)
c.1051G>A (p.Val351Ile)
c.1366G>A (p.Val456Ile)
c.1321G>A (p.Val441Ile)
c.1228G>A (p.Val410Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.36223404A>CCA464495354CLTA,GNEc.1473T>G (p.Ala491=)
c.1203T>G (p.Ala401=)
c.1380T>G (p.Ala460=)
c.485+19225A>C (n.485+19225A>C)
c.1050T>G (p.Ala350=)
c.1365T>G (p.Ala455=)
c.1320T>G (p.Ala440=)
c.1227T>G (p.Ala409=)
9g.36223404A>GCA464495355CLTA,GNEc.1473T>C (p.Ala491=)
c.1203T>C (p.Ala401=)
c.1380T>C (p.Ala460=)
c.485+19225A>G (n.485+19225A>G)
c.1050T>C (p.Ala350=)
c.1365T>C (p.Ala455=)
c.1320T>C (p.Ala440=)
c.1227T>C (p.Ala409=)
9g.36223404A>TCA464495356CLTA,GNEc.1473T>A (p.Ala491=)
c.1203T>A (p.Ala401=)
c.1380T>A (p.Ala460=)
c.485+19225A>T (n.485+19225A>T)
c.1050T>A (p.Ala350=)
c.1365T>A (p.Ala455=)
c.1320T>A (p.Ala440=)
c.1227T>A (p.Ala409=)
9g.36223405G>ACA253707CLTA,GNEc.1472C>T (p.Ala491Val)
c.1202C>T (p.Ala401Val)
c.1379C>T (p.Ala460Val)
c.485+19226G>A (n.485+19226G>A)
c.1049C>T (p.Ala350Val)
c.1364C>T (p.Ala455Val)
c.1319C>T (p.Ala440Val)
c.1226C>T (p.Ala409Val)
 ClinVar dbSNP
9g.36223405G>CCA373427222CLTA,GNEc.1472C>G (p.Ala491Gly)
c.1202C>G (p.Ala401Gly)
c.1379C>G (p.Ala460Gly)
c.485+19226G>C (n.485+19226G>C)
c.1049C>G (p.Ala350Gly)
c.1364C>G (p.Ala455Gly)
c.1319C>G (p.Ala440Gly)
c.1226C>G (p.Ala409Gly)
9g.36223405G=CA1846334388CLTA,GNEc.1472C= (p.Ala491=)
c.1202C= (p.Ala401=)
c.1379C= (p.Ala460=)
c.485+19226G= (n.485+19226G=)
c.1049C= (p.Ala350=)
c.1364C= (p.Ala455=)
c.1319C= (p.Ala440=)
c.1226C= (p.Ala409=)
9g.36223405G>TCA373427217CLTA,GNEc.1472C>A (p.Ala491Asp)
c.1202C>A (p.Ala401Asp)
c.1379C>A (p.Ala460Asp)
c.485+19226G>T (n.485+19226G>T)
c.1049C>A (p.Ala350Asp)
c.1364C>A (p.Ala455Asp)
c.1319C>A (p.Ala440Asp)
c.1226C>A (p.Ala409Asp)
9g.36223406C>ACA373427223CLTA,GNEc.1471G>T (p.Ala491Ser)
c.1201G>T (p.Ala401Ser)
c.1378G>T (p.Ala460Ser)
c.485+19227C>A (n.485+19227C>A)
c.1048G>T (p.Ala350Ser)
c.1363G>T (p.Ala455Ser)
c.1318G>T (p.Ala440Ser)
c.1225G>T (p.Ala409Ser)
9g.36223406C=CA1846334394CLTA,GNEc.1471G= (p.Ala491=)
c.1201G= (p.Ala401=)
c.1378G= (p.Ala460=)
c.485+19227C= (n.485+19227C=)
c.1048G= (p.Ala350=)
c.1363G= (p.Ala455=)
c.1318G= (p.Ala440=)
c.1225G= (p.Ala409=)
9g.36223406C>GCA373427228CLTA,GNEc.1471G>C (p.Ala491Pro)
c.1201G>C (p.Ala401Pro)
c.1378G>C (p.Ala460Pro)
c.485+19227C>G (n.485+19227C>G)
c.1048G>C (p.Ala350Pro)
c.1363G>C (p.Ala455Pro)
c.1318G>C (p.Ala440Pro)
c.1225G>C (p.Ala409Pro)
9g.36223406C>TCA5056496CLTA,GNEc.1471G>A (p.Ala491Thr)
c.1201G>A (p.Ala401Thr)
c.1378G>A (p.Ala460Thr)
c.485+19227C>T (n.485+19227C>T)
c.1048G>A (p.Ala350Thr)
c.1363G>A (p.Ala455Thr)
c.1318G>A (p.Ala440Thr)
c.1225G>A (p.Ala409Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36223407T>ACA373427235CLTA,GNEc.1470A>T (p.Glu490Asp)
c.1200A>T (p.Glu400Asp)
c.1377A>T (p.Glu459Asp)
c.485+19228T>A (n.485+19228T>A)
c.1047A>T (p.Glu349Asp)
c.1362A>T (p.Glu454Asp)
c.1317A>T (p.Glu439Asp)
c.1224A>T (p.Glu408Asp)
9g.36223407T>CCA464495360CLTA,GNEc.1470A>G (p.Glu490=)
c.1200A>G (p.Glu400=)
c.1377A>G (p.Glu459=)
c.485+19228T>C (n.485+19228T>C)
c.1047A>G (p.Glu349=)
c.1362A>G (p.Glu454=)
c.1317A>G (p.Glu439=)
c.1224A>G (p.Glu408=)
 gnomAD v4
9g.36223407T>GCA192843932CLTA,GNEc.1470A>C (p.Glu490Asp)
c.1200A>C (p.Glu400Asp)
c.1377A>C (p.Glu459Asp)
c.485+19228T>G (n.485+19228T>G)
c.1047A>C (p.Glu349Asp)
c.1362A>C (p.Glu454Asp)
c.1317A>C (p.Glu439Asp)
c.1224A>C (p.Glu408Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36223407T=CA1846334399CLTA,GNEc.1470A= (p.Glu490=)
c.1200A= (p.Glu400=)
c.1377A= (p.Glu459=)
c.485+19228T= (n.485+19228T=)
c.1047A= (p.Glu349=)
c.1362A= (p.Glu454=)
c.1317A= (p.Glu439=)
c.1224A= (p.Glu408=)
9g.36223408T>ACA373427238CLTA,GNEc.1469A>T (p.Glu490Val)
c.1199A>T (p.Glu400Val)
c.1376A>T (p.Glu459Val)
c.485+19229T>A (n.485+19229T>A)
c.1046A>T (p.Glu349Val)
c.1361A>T (p.Glu454Val)
c.1316A>T (p.Glu439Val)
c.1223A>T (p.Glu408Val)
9g.36223408T>CCA373427242CLTA,GNEc.1469A>G (p.Glu490Gly)
c.1199A>G (p.Glu400Gly)
c.1376A>G (p.Glu459Gly)
c.485+19229T>C (n.485+19229T>C)
c.1046A>G (p.Glu349Gly)
c.1361A>G (p.Glu454Gly)
c.1316A>G (p.Glu439Gly)
c.1223A>G (p.Glu408Gly)
9g.36223408T>GCA373427245CLTA,GNEc.1469A>C (p.Glu490Ala)
c.1199A>C (p.Glu400Ala)
c.1376A>C (p.Glu459Ala)
c.485+19229T>G (n.485+19229T>G)
c.1046A>C (p.Glu349Ala)
c.1361A>C (p.Glu454Ala)
c.1316A>C (p.Glu439Ala)
c.1223A>C (p.Glu408Ala)
9g.36223409C>ACA373427253CLTA,GNEc.1468G>T (p.Glu490Ter)
c.1198G>T (p.Glu400Ter)
c.1375G>T (p.Glu459Ter)
c.485+19230C>A (n.485+19230C>A)
c.1045G>T (p.Glu349Ter)
c.1360G>T (p.Glu454Ter)
c.1315G>T (p.Glu439Ter)
c.1222G>T (p.Glu408Ter)
9g.36223409C>GCA373427254CLTA,GNEc.1468G>C (p.Glu490Gln)
c.1198G>C (p.Glu400Gln)
c.1375G>C (p.Glu459Gln)
c.485+19230C>G (n.485+19230C>G)
c.1045G>C (p.Glu349Gln)
c.1360G>C (p.Glu454Gln)
c.1315G>C (p.Glu439Gln)
c.1222G>C (p.Glu408Gln)
9g.36223409C>TCA373427255CLTA,GNEc.1468G>A (p.Glu490Lys)
c.1198G>A (p.Glu400Lys)
c.1375G>A (p.Glu459Lys)
c.485+19230C>T (n.485+19230C>T)
c.1045G>A (p.Glu349Lys)
c.1360G>A (p.Glu454Lys)
c.1315G>A (p.Glu439Lys)
c.1222G>A (p.Glu408Lys)
9g.36223410T>ACA464495364CLTA,GNEc.1467A>T (p.Ala489=)
c.1197A>T (p.Ala399=)
c.1374A>T (p.Ala458=)
c.485+19231T>A (n.485+19231T>A)
c.1044A>T (p.Ala348=)
c.1359A>T (p.Ala453=)
c.1314A>T (p.Ala438=)
c.1221A>T (p.Ala407=)
9g.36223410T>CCA464495365CLTA,GNEc.1467A>G (p.Ala489=)
c.1197A>G (p.Ala399=)
c.1374A>G (p.Ala458=)
c.485+19231T>C (n.485+19231T>C)
c.1044A>G (p.Ala348=)
c.1359A>G (p.Ala453=)
c.1314A>G (p.Ala438=)
c.1221A>G (p.Ala407=)
9g.36223410T>GCA464495366CLTA,GNEc.1467A>C (p.Ala489=)
c.1197A>C (p.Ala399=)
c.1374A>C (p.Ala458=)
c.485+19231T>G (n.485+19231T>G)
c.1044A>C (p.Ala348=)
c.1359A>C (p.Ala453=)
c.1314A>C (p.Ala438=)
c.1221A>C (p.Ala407=)
9g.36223411G>ACA373427263CLTA,GNEc.1466C>T (p.Ala489Val)
c.1196C>T (p.Ala399Val)
c.1373C>T (p.Ala458Val)
c.485+19232G>A (n.485+19232G>A)
c.1043C>T (p.Ala348Val)
c.1358C>T (p.Ala453Val)
c.1313C>T (p.Ala438Val)
c.1220C>T (p.Ala407Val)
 dbSNP gnomAD v2 gnomAD v4
9g.36223411G>CCA373427261CLTA,GNEc.1466C>G (p.Ala489Gly)
c.1196C>G (p.Ala399Gly)
c.1373C>G (p.Ala458Gly)
c.485+19232G>C (n.485+19232G>C)
c.1043C>G (p.Ala348Gly)
c.1358C>G (p.Ala453Gly)
c.1313C>G (p.Ala438Gly)
c.1220C>G (p.Ala407Gly)
9g.36223411G=CA1846334405CLTA,GNEc.1466C= (p.Ala489=)
c.1196C= (p.Ala399=)
c.1373C= (p.Ala458=)
c.485+19232G= (n.485+19232G=)
c.1043C= (p.Ala348=)
c.1358C= (p.Ala453=)
c.1313C= (p.Ala438=)
c.1220C= (p.Ala407=)
9g.36223411G>TCA373427257CLTA,GNEc.1466C>A (p.Ala489Glu)
c.1196C>A (p.Ala399Glu)
c.1373C>A (p.Ala458Glu)
c.485+19232G>T (n.485+19232G>T)
c.1043C>A (p.Ala348Glu)
c.1358C>A (p.Ala453Glu)
c.1313C>A (p.Ala438Glu)
c.1220C>A (p.Ala407Glu)
9g.36223412C>ACA373427265CLTA,GNEc.1465G>T (p.Ala489Ser)
c.1195G>T (p.Ala399Ser)
c.1372G>T (p.Ala458Ser)
c.485+19233C>A (n.485+19233C>A)
c.1042G>T (p.Ala348Ser)
c.1357G>T (p.Ala453Ser)
c.1312G>T (p.Ala438Ser)
c.1219G>T (p.Ala407Ser)
9g.36223412C>GCA373427266CLTA,GNEc.1465G>C (p.Ala489Pro)
c.1195G>C (p.Ala399Pro)
c.1372G>C (p.Ala458Pro)
c.485+19233C>G (n.485+19233C>G)
c.1042G>C (p.Ala348Pro)
c.1357G>C (p.Ala453Pro)
c.1312G>C (p.Ala438Pro)
c.1219G>C (p.Ala407Pro)
9g.36223412C>TCA373427267CLTA,GNEc.1465G>A (p.Ala489Thr)
c.1195G>A (p.Ala399Thr)
c.1372G>A (p.Ala458Thr)
c.485+19233C>T (n.485+19233C>T)
c.1042G>A (p.Ala348Thr)
c.1357G>A (p.Ala453Thr)
c.1312G>A (p.Ala438Thr)
c.1219G>A (p.Ala407Thr)
9g.36223413T>ACA464495370CLTA,GNEc.1464A>T (p.Ala488=)
c.1194A>T (p.Ala398=)
c.1371A>T (p.Ala457=)
c.485+19234T>A (n.485+19234T>A)
c.1041A>T (p.Ala347=)
c.1356A>T (p.Ala452=)
c.1311A>T (p.Ala437=)
c.1218A>T (p.Ala406=)
9g.36223413T>CCA464495371CLTA,GNEc.1464A>G (p.Ala488=)
c.1194A>G (p.Ala398=)
c.1371A>G (p.Ala457=)
c.485+19234T>C (n.485+19234T>C)
c.1041A>G (p.Ala347=)
c.1356A>G (p.Ala452=)
c.1311A>G (p.Ala437=)
c.1218A>G (p.Ala406=)
9g.36223413T>GCA464495372CLTA,GNEc.1464A>C (p.Ala488=)
c.1194A>C (p.Ala398=)
c.1371A>C (p.Ala457=)
c.485+19234T>G (n.485+19234T>G)
c.1041A>C (p.Ala347=)
c.1356A>C (p.Ala452=)
c.1311A>C (p.Ala437=)
c.1218A>C (p.Ala406=)
9g.36223414G>ACA373427268CLTA,GNEc.1463C>T (p.Ala488Val)
c.1193C>T (p.Ala398Val)
c.1370C>T (p.Ala457Val)
c.485+19235G>A (n.485+19235G>A)
c.1040C>T (p.Ala347Val)
c.1355C>T (p.Ala452Val)
c.1310C>T (p.Ala437Val)
c.1217C>T (p.Ala406Val)
 gnomAD v4
9g.36223414G>CCA373427269CLTA,GNEc.1463C>G (p.Ala488Gly)
c.1193C>G (p.Ala398Gly)
c.1370C>G (p.Ala457Gly)
c.485+19235G>C (n.485+19235G>C)
c.1040C>G (p.Ala347Gly)
c.1355C>G (p.Ala452Gly)
c.1310C>G (p.Ala437Gly)
c.1217C>G (p.Ala406Gly)
9g.36223414G>TCA373427270CLTA,GNEc.1463C>A (p.Ala488Glu)
c.1193C>A (p.Ala398Glu)
c.1370C>A (p.Ala457Glu)
c.485+19235G>T (n.485+19235G>T)
c.1040C>A (p.Ala347Glu)
c.1355C>A (p.Ala452Glu)
c.1310C>A (p.Ala437Glu)
c.1217C>A (p.Ala406Glu)
9g.36223415C>ACA373427272CLTA,GNEc.1462G>T (p.Ala488Ser)
c.1192G>T (p.Ala398Ser)
c.1369G>T (p.Ala457Ser)
c.485+19236C>A (n.485+19236C>A)
c.1039G>T (p.Ala347Ser)
c.1354G>T (p.Ala452Ser)
c.1309G>T (p.Ala437Ser)
c.1216G>T (p.Ala406Ser)
9g.36223415C>GCA373427275CLTA,GNEc.1462G>C (p.Ala488Pro)
c.1192G>C (p.Ala398Pro)
c.1369G>C (p.Ala457Pro)
c.485+19236C>G (n.485+19236C>G)
c.1039G>C (p.Ala347Pro)
c.1354G>C (p.Ala452Pro)
c.1309G>C (p.Ala437Pro)
c.1216G>C (p.Ala406Pro)
9g.36223415C>TCA373427278CLTA,GNEc.1462G>A (p.Ala488Thr)
c.1192G>A (p.Ala398Thr)
c.1369G>A (p.Ala457Thr)
c.485+19236C>T (n.485+19236C>T)
c.1039G>A (p.Ala347Thr)
c.1354G>A (p.Ala452Thr)
c.1309G>A (p.Ala437Thr)
c.1216G>A (p.Ala406Thr)
 ClinVar dbSNP gnomAD v4
9g.36223416A=CA1846334410CLTA,GNEc.1461T= (p.Ala487=)
c.1191T= (p.Ala397=)
c.1368T= (p.Ala456=)
c.485+19237A= (n.485+19237A=)
c.1038T= (p.Ala346=)
c.1353T= (p.Ala451=)
c.1308T= (p.Ala436=)
c.1215T= (p.Ala405=)
9g.36223416A>CCA464495375CLTA,GNEc.1461T>G (p.Ala487=)
c.1191T>G (p.Ala397=)
c.1368T>G (p.Ala456=)
c.485+19237A>C (n.485+19237A>C)
c.1038T>G (p.Ala346=)
c.1353T>G (p.Ala451=)
c.1308T>G (p.Ala436=)
c.1215T>G (p.Ala405=)
9g.36223416A>GCA464495376CLTA,GNEc.1461T>C (p.Ala487=)
c.1191T>C (p.Ala397=)
c.1368T>C (p.Ala456=)
c.485+19237A>G (n.485+19237A>G)
c.1038T>C (p.Ala346=)
c.1353T>C (p.Ala451=)
c.1308T>C (p.Ala436=)
c.1215T>C (p.Ala405=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36223416A>TCA5056497CLTA,GNEc.1461T>A (p.Ala487=)
c.1191T>A (p.Ala397=)
c.1368T>A (p.Ala456=)
c.485+19237A>T (n.485+19237A>T)
c.1038T>A (p.Ala346=)
c.1353T>A (p.Ala451=)
c.1308T>A (p.Ala436=)
c.1215T>A (p.Ala405=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36223417G>ACA373427279CLTA,GNEc.1460C>T (p.Ala487Val)
c.1190C>T (p.Ala397Val)
c.1367C>T (p.Ala456Val)
c.485+19238G>A (n.485+19238G>A)
c.1037C>T (p.Ala346Val)
c.1352C>T (p.Ala451Val)
c.1307C>T (p.Ala436Val)
c.1214C>T (p.Ala405Val)
9g.36223417G>CCA373427280CLTA,GNEc.1460C>G (p.Ala487Gly)
c.1190C>G (p.Ala397Gly)
c.1367C>G (p.Ala456Gly)
c.485+19238G>C (n.485+19238G>C)
c.1037C>G (p.Ala346Gly)
c.1352C>G (p.Ala451Gly)
c.1307C>G (p.Ala436Gly)
c.1214C>G (p.Ala405Gly)
9g.36223417G>TCA373427281CLTA,GNEc.1460C>A (p.Ala487Asp)
c.1190C>A (p.Ala397Asp)
c.1367C>A (p.Ala456Asp)
c.485+19238G>T (n.485+19238G>T)
c.1037C>A (p.Ala346Asp)
c.1352C>A (p.Ala451Asp)
c.1307C>A (p.Ala436Asp)
c.1214C>A (p.Ala405Asp)
9g.36223418C>ACA373427290CLTA,GNEc.1459G>T (p.Ala487Ser)
c.1189G>T (p.Ala397Ser)
c.1366G>T (p.Ala456Ser)
c.485+19239C>A (n.485+19239C>A)
c.1036G>T (p.Ala346Ser)
c.1351G>T (p.Ala451Ser)
c.1306G>T (p.Ala436Ser)
c.1213G>T (p.Ala405Ser)
9g.36223418C>GCA373427292CLTA,GNEc.1459G>C (p.Ala487Pro)
c.1189G>C (p.Ala397Pro)
c.1366G>C (p.Ala456Pro)
c.485+19239C>G (n.485+19239C>G)
c.1036G>C (p.Ala346Pro)
c.1351G>C (p.Ala451Pro)
c.1306G>C (p.Ala436Pro)
c.1213G>C (p.Ala405Pro)
9g.36223418C>TCA373427284CLTA,GNEc.1459G>A (p.Ala487Thr)
c.1189G>A (p.Ala397Thr)
c.1366G>A (p.Ala456Thr)
c.485+19239C>T (n.485+19239C>T)
c.1036G>A (p.Ala346Thr)
c.1351G>A (p.Ala451Thr)
c.1306G>A (p.Ala436Thr)
c.1213G>A (p.Ala405Thr)
9g.36223419T>ACA373427293CLTA,GNEc.1458A>T (p.Glu486Asp)
c.1188A>T (p.Glu396Asp)
c.1365A>T (p.Glu455Asp)
c.485+19240T>A (n.485+19240T>A)
c.1035A>T (p.Glu345Asp)
c.1350A>T (p.Glu450Asp)
c.1305A>T (p.Glu435Asp)
c.1212A>T (p.Glu404Asp)
9g.36223419T>CCA464495380CLTA,GNEc.1458A>G (p.Glu486=)
c.1188A>G (p.Glu396=)
c.1365A>G (p.Glu455=)
c.485+19240T>C (n.485+19240T>C)
c.1035A>G (p.Glu345=)
c.1350A>G (p.Glu450=)
c.1305A>G (p.Glu435=)
c.1212A>G (p.Glu404=)
 ClinVar dbSNP
9g.36223419T>GCA373427295CLTA,GNEc.1458A>C (p.Glu486Asp)
c.1188A>C (p.Glu396Asp)
c.1365A>C (p.Glu455Asp)
c.485+19240T>G (n.485+19240T>G)
c.1035A>C (p.Glu345Asp)
c.1350A>C (p.Glu450Asp)
c.1305A>C (p.Glu435Asp)
c.1212A>C (p.Glu404Asp)
 gnomAD v4
9g.36223420T>ACA373427296CLTA,GNEc.1457A>T (p.Glu486Val)
c.1187A>T (p.Glu396Val)
c.1364A>T (p.Glu455Val)
c.485+19241T>A (n.485+19241T>A)
c.1034A>T (p.Glu345Val)
c.1349A>T (p.Glu450Val)
c.1304A>T (p.Glu435Val)
c.1211A>T (p.Glu404Val)
9g.36223420T>CCA373427298CLTA,GNEc.1457A>G (p.Glu486Gly)
c.1187A>G (p.Glu396Gly)
c.1364A>G (p.Glu455Gly)
c.485+19241T>C (n.485+19241T>C)
c.1034A>G (p.Glu345Gly)
c.1349A>G (p.Glu450Gly)
c.1304A>G (p.Glu435Gly)
c.1211A>G (p.Glu404Gly)
9g.36223420T>GCA373427297CLTA,GNEc.1457A>C (p.Glu486Ala)
c.1187A>C (p.Glu396Ala)
c.1364A>C (p.Glu455Ala)
c.485+19241T>G (n.485+19241T>G)
c.1034A>C (p.Glu345Ala)
c.1349A>C (p.Glu450Ala)
c.1304A>C (p.Glu435Ala)
c.1211A>C (p.Glu404Ala)
9g.36223421C>ACA373427299CLTA,GNEc.1456G>T (p.Glu486Ter)
c.1186G>T (p.Glu396Ter)
c.1363G>T (p.Glu455Ter)
c.485+19242C>A (n.485+19242C>A)
c.1033G>T (p.Glu345Ter)
c.1348G>T (p.Glu450Ter)
c.1303G>T (p.Glu435Ter)
c.1210G>T (p.Glu404Ter)
9g.36223421C>GCA373427300CLTA,GNEc.1456G>C (p.Glu486Gln)
c.1186G>C (p.Glu396Gln)
c.1363G>C (p.Glu455Gln)
c.485+19242C>G (n.485+19242C>G)
c.1033G>C (p.Glu345Gln)
c.1348G>C (p.Glu450Gln)
c.1303G>C (p.Glu435Gln)
c.1210G>C (p.Glu404Gln)
9g.36223421C>TCA373427301CLTA,GNEc.1456G>A (p.Glu486Lys)
c.1186G>A (p.Glu396Lys)
c.1363G>A (p.Glu455Lys)
c.485+19242C>T (n.485+19242C>T)
c.1033G>A (p.Glu345Lys)
c.1348G>A (p.Glu450Lys)
c.1303G>A (p.Glu435Lys)
c.1210G>A (p.Glu404Lys)
 dbSNP
9g.36223422C>ACA464495384CLTA,GNEc.1455G>T (p.Val485=)
c.1185G>T (p.Val395=)
c.1362G>T (p.Val454=)
c.485+19243C>A (n.485+19243C>A)
c.1032G>T (p.Val344=)
c.1347G>T (p.Val449=)
c.1302G>T (p.Val434=)
c.1209G>T (p.Val403=)
9g.36223422C>GCA464495385CLTA,GNEc.1455G>C (p.Val485=)
c.1185G>C (p.Val395=)
c.1362G>C (p.Val454=)
c.485+19243C>G (n.485+19243C>G)
c.1032G>C (p.Val344=)
c.1347G>C (p.Val449=)
c.1302G>C (p.Val434=)
c.1209G>C (p.Val403=)
 ClinVar
9g.36223422C>TCA464495386CLTA,GNEc.1455G>A (p.Val485=)
c.1185G>A (p.Val395=)
c.1362G>A (p.Val454=)
c.485+19243C>T (n.485+19243C>T)
c.1032G>A (p.Val344=)
c.1347G>A (p.Val449=)
c.1302G>A (p.Val434=)
c.1209G>A (p.Val403=)
9g.36223423A>CCA373427302CLTA,GNEc.1454T>G (p.Val485Gly)
c.1184T>G (p.Val395Gly)
c.1361T>G (p.Val454Gly)
c.485+19244A>C (n.485+19244A>C)
c.1031T>G (p.Val344Gly)
c.1346T>G (p.Val449Gly)
c.1301T>G (p.Val434Gly)
c.1208T>G (p.Val403Gly)
9g.36223423A>GCA373427304CLTA,GNEc.1454T>C (p.Val485Ala)
c.1184T>C (p.Val395Ala)
c.1361T>C (p.Val454Ala)
c.485+19244A>G (n.485+19244A>G)
c.1031T>C (p.Val344Ala)
c.1346T>C (p.Val449Ala)
c.1301T>C (p.Val434Ala)
c.1208T>C (p.Val403Ala)
 ClinVar dbSNP
9g.36223423A>TCA373427306CLTA,GNEc.1454T>A (p.Val485Glu)
c.1184T>A (p.Val395Glu)
c.1361T>A (p.Val454Glu)
c.485+19244A>T (n.485+19244A>T)
c.1031T>A (p.Val344Glu)
c.1346T>A (p.Val449Glu)
c.1301T>A (p.Val434Glu)
c.1208T>A (p.Val403Glu)
 gnomAD v4
9g.36223424C>ACA373427308CLTA,GNEc.1453G>T (p.Val485Leu)
c.1183G>T (p.Val395Leu)
c.1360G>T (p.Val454Leu)
c.485+19245C>A (n.485+19245C>A)
c.1030G>T (p.Val344Leu)
c.1345G>T (p.Val449Leu)
c.1300G>T (p.Val434Leu)
c.1207G>T (p.Val403Leu)
9g.36223424C=CA1846334415CLTA,GNEc.1453G= (p.Val485=)
c.1183G= (p.Val395=)
c.1360G= (p.Val454=)
c.485+19245C= (n.485+19245C=)
c.1030G= (p.Val344=)
c.1345G= (p.Val449=)
c.1300G= (p.Val434=)
c.1207G= (p.Val403=)
9g.36223424C>GCA373427310CLTA,GNEc.1453G>C (p.Val485Leu)
c.1183G>C (p.Val395Leu)
c.1360G>C (p.Val454Leu)
c.485+19245C>G (n.485+19245C>G)
c.1030G>C (p.Val344Leu)
c.1345G>C (p.Val449Leu)
c.1300G>C (p.Val434Leu)
c.1207G>C (p.Val403Leu)
9g.36223424C>TCA373427311CLTA,GNEc.1453G>A (p.Val485Met)
c.1183G>A (p.Val395Met)
c.1360G>A (p.Val454Met)
c.485+19245C>T (n.485+19245C>T)
c.1030G>A (p.Val344Met)
c.1345G>A (p.Val449Met)
c.1300G>A (p.Val434Met)
c.1207G>A (p.Val403Met)
 dbSNP gnomAD v2 gnomAD v4
9g.36223425A>CCA373427312CLTA,GNEc.1452T>G (p.Cys484Trp)
c.1182T>G (p.Cys394Trp)
c.1359T>G (p.Cys453Trp)
c.485+19246A>C (n.485+19246A>C)
c.1029T>G (p.Cys343Trp)
c.1344T>G (p.Cys448Trp)
c.1299T>G (p.Cys433Trp)
c.1206T>G (p.Cys402Trp)
9g.36223425A>GCA464495387CLTA,GNEc.1452T>C (p.Cys484=)
c.1182T>C (p.Cys394=)
c.1359T>C (p.Cys453=)
c.485+19246A>G (n.485+19246A>G)
c.1029T>C (p.Cys343=)
c.1344T>C (p.Cys448=)
c.1299T>C (p.Cys433=)
c.1206T>C (p.Cys402=)
9g.36223425A>TCA373427314CLTA,GNEc.1452T>A (p.Cys484Ter)
c.1182T>A (p.Cys394Ter)
c.1359T>A (p.Cys453Ter)
c.485+19246A>T (n.485+19246A>T)
c.1029T>A (p.Cys343Ter)
c.1344T>A (p.Cys448Ter)
c.1299T>A (p.Cys433Ter)
c.1206T>A (p.Cys402Ter)
9g.36223426C>ACA373427315CLTA,GNEc.1451G>T (p.Cys484Phe)
c.1181G>T (p.Cys394Phe)
c.1358G>T (p.Cys453Phe)
c.485+19247C>A (n.485+19247C>A)
c.1028G>T (p.Cys343Phe)
c.1343G>T (p.Cys448Phe)
c.1298G>T (p.Cys433Phe)
c.1205G>T (p.Cys402Phe)
9g.36223426C>GCA373427317CLTA,GNEc.1451G>C (p.Cys484Ser)
c.1181G>C (p.Cys394Ser)
c.1358G>C (p.Cys453Ser)
c.485+19247C>G (n.485+19247C>G)
c.1028G>C (p.Cys343Ser)
c.1343G>C (p.Cys448Ser)
c.1298G>C (p.Cys433Ser)
c.1205G>C (p.Cys402Ser)
9g.36223426C>TCA373427318CLTA,GNEc.1451G>A (p.Cys484Tyr)
c.1181G>A (p.Cys394Tyr)
c.1358G>A (p.Cys453Tyr)
c.485+19247C>T (n.485+19247C>T)
c.1028G>A (p.Cys343Tyr)
c.1343G>A (p.Cys448Tyr)
c.1298G>A (p.Cys433Tyr)
c.1205G>A (p.Cys402Tyr)
 gnomAD v4
9g.36223427A=CA1846334422CLTA,GNEc.1450T= (p.Cys484=)
c.1180T= (p.Cys394=)
c.1357T= (p.Cys453=)
c.485+19248A= (n.485+19248A=)
c.1027T= (p.Cys343=)
c.1342T= (p.Cys448=)
c.1297T= (p.Cys433=)
c.1204T= (p.Cys402=)
9g.36223427A>CCA192843934CLTA,GNEc.1450T>G (p.Cys484Gly)
c.1180T>G (p.Cys394Gly)
c.1357T>G (p.Cys453Gly)
c.485+19248A>C (n.485+19248A>C)
c.1027T>G (p.Cys343Gly)
c.1342T>G (p.Cys448Gly)
c.1297T>G (p.Cys433Gly)
c.1204T>G (p.Cys402Gly)
 dbSNP
9g.36223427A>GCA373427322CLTA,GNEc.1450T>C (p.Cys484Arg)
c.1180T>C (p.Cys394Arg)
c.1357T>C (p.Cys453Arg)
c.485+19248A>G (n.485+19248A>G)
c.1027T>C (p.Cys343Arg)
c.1342T>C (p.Cys448Arg)
c.1297T>C (p.Cys433Arg)
c.1204T>C (p.Cys402Arg)
9g.36223427A>TCA373427320CLTA,GNEc.1450T>A (p.Cys484Ser)
c.1180T>A (p.Cys394Ser)
c.1357T>A (p.Cys453Ser)
c.485+19248A>T (n.485+19248A>T)
c.1027T>A (p.Cys343Ser)
c.1342T>A (p.Cys448Ser)
c.1297T>A (p.Cys433Ser)
c.1204T>A (p.Cys402Ser)
9g.36223428_36223438delCA2689945890CLTA,GNEc.1440_1450del (p.Ile480MetfsTer?)
c.1170_1180del (p.Ile390MetfsTer?)
c.1347_1357del (p.Ile449MetfsTer?)
c.1347_1357del (p.Ile449MetfsTer29)
c.485+19249_485+19259del (n.485+19249_485+19259del)
c.1017_1027del (p.Ile339MetfsTer?)
c.1332_1342del (p.Ile444MetfsTer?)
c.1287_1297del (p.Ile429MetfsTer?)
c.1194_1204del (p.Ile398MetfsTer?)
 gnomAD v4
9g.36223428C>ACA373427325CLTA,GNEc.1449G>T (p.Met483Ile)
c.1179G>T (p.Met393Ile)
c.1356G>T (p.Met452Ile)
c.485+19249C>A (n.485+19249C>A)
c.1026G>T (p.Met342Ile)
c.1341G>T (p.Met447Ile)
c.1296G>T (p.Met432Ile)
c.1203G>T (p.Met401Ile)
9g.36223428C>GCA373427326CLTA,GNEc.1449G>C (p.Met483Ile)
c.1179G>C (p.Met393Ile)
c.1356G>C (p.Met452Ile)
c.485+19249C>G (n.485+19249C>G)
c.1026G>C (p.Met342Ile)
c.1341G>C (p.Met447Ile)
c.1296G>C (p.Met432Ile)
c.1203G>C (p.Met401Ile)
9g.36223428C>TCA373427327CLTA,GNEc.1449G>A (p.Met483Ile)
c.1179G>A (p.Met393Ile)
c.1356G>A (p.Met452Ile)
c.485+19249C>T (n.485+19249C>T)
c.1026G>A (p.Met342Ile)
c.1341G>A (p.Met447Ile)
c.1296G>A (p.Met432Ile)
c.1203G>A (p.Met401Ile)
 gnomAD v4
9g.36223429A>CCA373427328CLTA,GNEc.1448T>G (p.Met483Arg)
c.1178T>G (p.Met393Arg)
c.1355T>G (p.Met452Arg)
c.485+19250A>C (n.485+19250A>C)
c.1025T>G (p.Met342Arg)
c.1340T>G (p.Met447Arg)
c.1295T>G (p.Met432Arg)
c.1202T>G (p.Met401Arg)
9g.36223429A>GCA373427329CLTA,GNEc.1448T>C (p.Met483Thr)
c.1178T>C (p.Met393Thr)
c.1355T>C (p.Met452Thr)
c.485+19250A>G (n.485+19250A>G)
c.1025T>C (p.Met342Thr)
c.1340T>C (p.Met447Thr)
c.1295T>C (p.Met432Thr)
c.1202T>C (p.Met401Thr)
9g.36223429A>TCA373427331CLTA,GNEc.1448T>A (p.Met483Lys)
c.1178T>A (p.Met393Lys)
c.1355T>A (p.Met452Lys)
c.485+19250A>T (n.485+19250A>T)
c.1025T>A (p.Met342Lys)
c.1340T>A (p.Met447Lys)
c.1295T>A (p.Met432Lys)
c.1202T>A (p.Met401Lys)
9g.36223430T>ACA373427333CLTA,GNEc.1447A>T (p.Met483Leu)
c.1177A>T (p.Met393Leu)
c.1354A>T (p.Met452Leu)
c.485+19251T>A (n.485+19251T>A)
c.1024A>T (p.Met342Leu)
c.1339A>T (p.Met447Leu)
c.1294A>T (p.Met432Leu)
c.1201A>T (p.Met401Leu)
9g.36223430T>CCA5056498CLTA,GNEc.1447A>G (p.Met483Val)
c.1177A>G (p.Met393Val)
c.1354A>G (p.Met452Val)
c.485+19251T>C (n.485+19251T>C)
c.1024A>G (p.Met342Val)
c.1339A>G (p.Met447Val)
c.1294A>G (p.Met432Val)
c.1201A>G (p.Met401Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223430T>GCA373427334CLTA,GNEc.1447A>C (p.Met483Leu)
c.1177A>C (p.Met393Leu)
c.1354A>C (p.Met452Leu)
c.485+19251T>G (n.485+19251T>G)
c.1024A>C (p.Met342Leu)
c.1339A>C (p.Met447Leu)
c.1294A>C (p.Met432Leu)
c.1201A>C (p.Met401Leu)
9g.36223430T=CA1846334426CLTA,GNEc.1447A= (p.Met483=)
c.1177A= (p.Met393=)
c.1354A= (p.Met452=)
c.485+19251T= (n.485+19251T=)
c.1024A= (p.Met342=)
c.1339A= (p.Met447=)
c.1294A= (p.Met432=)
c.1201A= (p.Met401=)
9g.36223431C>ACA373427336CLTA,GNEc.1446G>T (p.Gln482His)
c.1176G>T (p.Gln392His)
c.1353G>T (p.Gln451His)
c.485+19252C>A (n.485+19252C>A)
c.1023G>T (p.Gln341His)
c.1338G>T (p.Gln446His)
c.1293G>T (p.Gln431His)
c.1200G>T (p.Gln400His)
9g.36223431C>GCA373427338CLTA,GNEc.1446G>C (p.Gln482His)
c.1176G>C (p.Gln392His)
c.1353G>C (p.Gln451His)
c.485+19252C>G (n.485+19252C>G)
c.1023G>C (p.Gln341His)
c.1338G>C (p.Gln446His)
c.1293G>C (p.Gln431His)
c.1200G>C (p.Gln400His)
9g.36223431C>TCA464495392CLTA,GNEc.1446G>A (p.Gln482=)
c.1176G>A (p.Gln392=)
c.1353G>A (p.Gln451=)
c.485+19252C>T (n.485+19252C>T)
c.1023G>A (p.Gln341=)
c.1338G>A (p.Gln446=)
c.1293G>A (p.Gln431=)
c.1200G>A (p.Gln400=)
9g.36223432T>ACA373427340CLTA,GNEc.1445A>T (p.Gln482Leu)
c.1175A>T (p.Gln392Leu)
c.1352A>T (p.Gln451Leu)
c.485+19253T>A (n.485+19253T>A)
c.1022A>T (p.Gln341Leu)
c.1337A>T (p.Gln446Leu)
c.1292A>T (p.Gln431Leu)
c.1199A>T (p.Gln400Leu)
9g.36223432T>CCA373427342CLTA,GNEc.1445A>G (p.Gln482Arg)
c.1175A>G (p.Gln392Arg)
c.1352A>G (p.Gln451Arg)
c.485+19253T>C (n.485+19253T>C)
c.1022A>G (p.Gln341Arg)
c.1337A>G (p.Gln446Arg)
c.1292A>G (p.Gln431Arg)
c.1199A>G (p.Gln400Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.36223432T>GCA373427343CLTA,GNEc.1445A>C (p.Gln482Pro)
c.1175A>C (p.Gln392Pro)
c.1352A>C (p.Gln451Pro)
c.485+19253T>G (n.485+19253T>G)
c.1022A>C (p.Gln341Pro)
c.1337A>C (p.Gln446Pro)
c.1292A>C (p.Gln431Pro)
c.1199A>C (p.Gln400Pro)
 ClinVar
9g.36223432T=CA1846334432CLTA,GNEc.1445A= (p.Gln482=)
c.1175A= (p.Gln392=)
c.1352A= (p.Gln451=)
c.485+19253T= (n.485+19253T=)
c.1022A= (p.Gln341=)
c.1337A= (p.Gln446=)
c.1292A= (p.Gln431=)
c.1199A= (p.Gln400=)
9g.36223433G>ACA5056499CLTA,GNEc.1444C>T (p.Gln482Ter)
c.1174C>T (p.Gln392Ter)
c.1351C>T (p.Gln451Ter)
c.485+19254G>A (n.485+19254G>A)
c.1021C>T (p.Gln341Ter)
c.1336C>T (p.Gln446Ter)
c.1291C>T (p.Gln431Ter)
c.1198C>T (p.Gln400Ter)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.36223433G>CCA373427349CLTA,GNEc.1444C>G (p.Gln482Glu)
c.1174C>G (p.Gln392Glu)
c.1351C>G (p.Gln451Glu)
c.485+19254G>C (n.485+19254G>C)
c.1021C>G (p.Gln341Glu)
c.1336C>G (p.Gln446Glu)
c.1291C>G (p.Gln431Glu)
c.1198C>G (p.Gln400Glu)
9g.36223433G=CA1846334433CLTA,GNEc.1444C= (p.Gln482=)
c.1174C= (p.Gln392=)
c.1351C= (p.Gln451=)
c.485+19254G= (n.485+19254G=)
c.1021C= (p.Gln341=)
c.1336C= (p.Gln446=)
c.1291C= (p.Gln431=)
c.1198C= (p.Gln400=)
9g.36223433G>TCA373427347CLTA,GNEc.1444C>A (p.Gln482Lys)
c.1174C>A (p.Gln392Lys)
c.1351C>A (p.Gln451Lys)
c.485+19254G>T (n.485+19254G>T)
c.1021C>A (p.Gln341Lys)
c.1336C>A (p.Gln446Lys)
c.1291C>A (p.Gln431Lys)
c.1198C>A (p.Gln400Lys)
9g.36223434T>ACA464495395CLTA,GNEc.1443A>T (p.Leu481=)
c.1173A>T (p.Leu391=)
c.1350A>T (p.Leu450=)
c.485+19255T>A (n.485+19255T>A)
c.1020A>T (p.Leu340=)
c.1335A>T (p.Leu445=)
c.1290A>T (p.Leu430=)
c.1197A>T (p.Leu399=)
9g.36223434T>CCA464495394CLTA,GNEc.1443A>G (p.Leu481=)
c.1173A>G (p.Leu391=)
c.1350A>G (p.Leu450=)
c.485+19255T>C (n.485+19255T>C)
c.1020A>G (p.Leu340=)
c.1335A>G (p.Leu445=)
c.1290A>G (p.Leu430=)
c.1197A>G (p.Leu399=)
 ClinVar dbSNP gnomAD v4
9g.36223434T>GCA464495393CLTA,GNEc.1443A>C (p.Leu481=)
c.1173A>C (p.Leu391=)
c.1350A>C (p.Leu450=)
c.485+19255T>G (n.485+19255T>G)
c.1020A>C (p.Leu340=)
c.1335A>C (p.Leu445=)
c.1290A>C (p.Leu430=)
c.1197A>C (p.Leu399=)
 gnomAD v4
9g.36223434T=CA1846334437CLTA,GNEc.1443A= (p.Leu481=)
c.1173A= (p.Leu391=)
c.1350A= (p.Leu450=)
c.485+19255T= (n.485+19255T=)
c.1020A= (p.Leu340=)
c.1335A= (p.Leu445=)
c.1290A= (p.Leu430=)
c.1197A= (p.Leu399=)
9g.36223435A=CA1846334440CLTA,GNEc.1442T= (p.Leu481=)
c.1172T= (p.Leu391=)
c.1349T= (p.Leu450=)
c.485+19256A= (n.485+19256A=)
c.1019T= (p.Leu340=)
c.1334T= (p.Leu445=)
c.1289T= (p.Leu430=)
c.1196T= (p.Leu399=)
9g.36223435A>CCA373427352CLTA,GNEc.1442T>G (p.Leu481Arg)
c.1172T>G (p.Leu391Arg)
c.1349T>G (p.Leu450Arg)
c.485+19256A>C (n.485+19256A>C)
c.1019T>G (p.Leu340Arg)
c.1334T>G (p.Leu445Arg)
c.1289T>G (p.Leu430Arg)
c.1196T>G (p.Leu399Arg)
9g.36223435A>GCA373427354CLTA,GNEc.1442T>C (p.Leu481Pro)
c.1172T>C (p.Leu391Pro)
c.1349T>C (p.Leu450Pro)
c.485+19256A>G (n.485+19256A>G)
c.1019T>C (p.Leu340Pro)
c.1334T>C (p.Leu445Pro)
c.1289T>C (p.Leu430Pro)
c.1196T>C (p.Leu399Pro)
 dbSNP
9g.36223435A>TCA373427355CLTA,GNEc.1442T>A (p.Leu481Gln)
c.1172T>A (p.Leu391Gln)
c.1349T>A (p.Leu450Gln)
c.485+19256A>T (n.485+19256A>T)
c.1019T>A (p.Leu340Gln)
c.1334T>A (p.Leu445Gln)
c.1289T>A (p.Leu430Gln)
c.1196T>A (p.Leu399Gln)
9g.36223436G>ACA464495397CLTA,GNEc.1441C>T (p.Leu481=)
c.1171C>T (p.Leu391=)
c.1348C>T (p.Leu450=)
c.485+19257G>A (n.485+19257G>A)
c.1018C>T (p.Leu340=)
c.1333C>T (p.Leu445=)
c.1288C>T (p.Leu430=)
c.1195C>T (p.Leu399=)
9g.36223436G>CCA373427356CLTA,GNEc.1441C>G (p.Leu481Val)
c.1171C>G (p.Leu391Val)
c.1348C>G (p.Leu450Val)
c.485+19257G>C (n.485+19257G>C)
c.1018C>G (p.Leu340Val)
c.1333C>G (p.Leu445Val)
c.1288C>G (p.Leu430Val)
c.1195C>G (p.Leu399Val)
 dbSNP
9g.36223436G=CA1846334443CLTA,GNEc.1441C= (p.Leu481=)
c.1171C= (p.Leu391=)
c.1348C= (p.Leu450=)
c.485+19257G= (n.485+19257G=)
c.1018C= (p.Leu340=)
c.1333C= (p.Leu445=)
c.1288C= (p.Leu430=)
c.1195C= (p.Leu399=)
9g.36223436G>TCA373427358CLTA,GNEc.1441C>A (p.Leu481Ile)
c.1171C>A (p.Leu391Ile)
c.1348C>A (p.Leu450Ile)
c.485+19257G>T (n.485+19257G>T)
c.1018C>A (p.Leu340Ile)
c.1333C>A (p.Leu445Ile)
c.1288C>A (p.Leu430Ile)
c.1195C>A (p.Leu399Ile)
9g.36223437G>ACA464495398CLTA,GNEc.1440C>T (p.Ile480=)
c.1170C>T (p.Ile390=)
c.1347C>T (p.Ile449=)
c.485+19258G>A (n.485+19258G>A)
c.1017C>T (p.Ile339=)
c.1332C>T (p.Ile444=)
c.1287C>T (p.Ile429=)
c.1194C>T (p.Ile398=)
9g.36223437G>CCA373427359CLTA,GNEc.1440C>G (p.Ile480Met)
c.1170C>G (p.Ile390Met)
c.1347C>G (p.Ile449Met)
c.485+19258G>C (n.485+19258G>C)
c.1017C>G (p.Ile339Met)
c.1332C>G (p.Ile444Met)
c.1287C>G (p.Ile429Met)
c.1194C>G (p.Ile398Met)
9g.36223437G>TCA464495399CLTA,GNEc.1440C>A (p.Ile480=)
c.1170C>A (p.Ile390=)
c.1347C>A (p.Ile449=)
c.485+19258G>T (n.485+19258G>T)
c.1017C>A (p.Ile339=)
c.1332C>A (p.Ile444=)
c.1287C>A (p.Ile429=)
c.1194C>A (p.Ile398=)
9g.36223438A>CCA373427365CLTA,GNEc.1439T>G (p.Ile480Ser)
c.1169T>G (p.Ile390Ser)
c.1346T>G (p.Ile449Ser)
c.485+19259A>C (n.485+19259A>C)
c.1016T>G (p.Ile339Ser)
c.1331T>G (p.Ile444Ser)
c.1286T>G (p.Ile429Ser)
c.1193T>G (p.Ile398Ser)
9g.36223438A>GCA373427361CLTA,GNEc.1439T>C (p.Ile480Thr)
c.1169T>C (p.Ile390Thr)
c.1346T>C (p.Ile449Thr)
c.485+19259A>G (n.485+19259A>G)
c.1016T>C (p.Ile339Thr)
c.1331T>C (p.Ile444Thr)
c.1286T>C (p.Ile429Thr)
c.1193T>C (p.Ile398Thr)
9g.36223438A>TCA373427363CLTA,GNEc.1439T>A (p.Ile480Asn)
c.1169T>A (p.Ile390Asn)
c.1346T>A (p.Ile449Asn)
c.485+19259A>T (n.485+19259A>T)
c.1016T>A (p.Ile339Asn)
c.1331T>A (p.Ile444Asn)
c.1286T>A (p.Ile429Asn)
c.1193T>A (p.Ile398Asn)
9g.36223439T>ACA373427366CLTA,GNEc.1438A>T (p.Ile480Phe)
c.1168A>T (p.Ile390Phe)
c.1345A>T (p.Ile449Phe)
c.485+19260T>A (n.485+19260T>A)
c.1015A>T (p.Ile339Phe)
c.1330A>T (p.Ile444Phe)
c.1285A>T (p.Ile429Phe)
c.1192A>T (p.Ile398Phe)
9g.36223439T>CCA5056500CLTA,GNEc.1438A>G (p.Ile480Val)
c.1168A>G (p.Ile390Val)
c.1345A>G (p.Ile449Val)
c.485+19260T>C (n.485+19260T>C)
c.1015A>G (p.Ile339Val)
c.1330A>G (p.Ile444Val)
c.1285A>G (p.Ile429Val)
c.1192A>G (p.Ile398Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223439T>GCA373427368CLTA,GNEc.1438A>C (p.Ile480Leu)
c.1168A>C (p.Ile390Leu)
c.1345A>C (p.Ile449Leu)
c.485+19260T>G (n.485+19260T>G)
c.1015A>C (p.Ile339Leu)
c.1330A>C (p.Ile444Leu)
c.1285A>C (p.Ile429Leu)
c.1192A>C (p.Ile398Leu)
9g.36223439T=CA1846334447CLTA,GNEc.1438A= (p.Ile480=)
c.1168A= (p.Ile390=)
c.1345A= (p.Ile449=)
c.485+19260T= (n.485+19260T=)
c.1015A= (p.Ile339=)
c.1330A= (p.Ile444=)
c.1285A= (p.Ile429=)
c.1192A= (p.Ile398=)
9g.36223440T>ACA373427369CLTA,GNEc.1437A>T (p.Leu479Phe)
c.1167A>T (p.Leu389Phe)
c.1344A>T (p.Leu448Phe)
c.485+19261T>A (n.485+19261T>A)
c.1014A>T (p.Leu338Phe)
c.1329A>T (p.Leu443Phe)
c.1284A>T (p.Leu428Phe)
c.1191A>T (p.Leu397Phe)
9g.36223440T>CCA464495400CLTA,GNEc.1437A>G (p.Leu479=)
c.1167A>G (p.Leu389=)
c.1344A>G (p.Leu448=)
c.485+19261T>C (n.485+19261T>C)
c.1014A>G (p.Leu338=)
c.1329A>G (p.Leu443=)
c.1284A>G (p.Leu428=)
c.1191A>G (p.Leu397=)
9g.36223440T>GCA373427371CLTA,GNEc.1437A>C (p.Leu479Phe)
c.1167A>C (p.Leu389Phe)
c.1344A>C (p.Leu448Phe)
c.485+19261T>G (n.485+19261T>G)
c.1014A>C (p.Leu338Phe)
c.1329A>C (p.Leu443Phe)
c.1284A>C (p.Leu428Phe)
c.1191A>C (p.Leu397Phe)
9g.36223441A>CCA373427373CLTA,GNEc.1436T>G (p.Leu479Ter)
c.1166T>G (p.Leu389Ter)
c.1343T>G (p.Leu448Ter)
c.485+19262A>C (n.485+19262A>C)
c.1013T>G (p.Leu338Ter)
c.1328T>G (p.Leu443Ter)
c.1283T>G (p.Leu428Ter)
c.1190T>G (p.Leu397Ter)
9g.36223441A>GCA373427375CLTA,GNEc.1436T>C (p.Leu479Ser)
c.1166T>C (p.Leu389Ser)
c.1343T>C (p.Leu448Ser)
c.485+19262A>G (n.485+19262A>G)
c.1013T>C (p.Leu338Ser)
c.1328T>C (p.Leu443Ser)
c.1283T>C (p.Leu428Ser)
c.1190T>C (p.Leu397Ser)
9g.36223441A>TCA373427374CLTA,GNEc.1436T>A (p.Leu479Ter)
c.1166T>A (p.Leu389Ter)
c.1343T>A (p.Leu448Ter)
c.485+19262A>T (n.485+19262A>T)
c.1013T>A (p.Leu338Ter)
c.1328T>A (p.Leu443Ter)
c.1283T>A (p.Leu428Ter)
c.1190T>A (p.Leu397Ter)
9g.36223442A>CCA373427377CLTA,GNEc.1435T>G (p.Leu479Val)
c.1165T>G (p.Leu389Val)
c.1342T>G (p.Leu448Val)
c.485+19263A>C (n.485+19263A>C)
c.1012T>G (p.Leu338Val)
c.1327T>G (p.Leu443Val)
c.1282T>G (p.Leu428Val)
c.1189T>G (p.Leu397Val)
9g.36223442A>GCA464495401CLTA,GNEc.1435T>C (p.Leu479=)
c.1165T>C (p.Leu389=)
c.1342T>C (p.Leu448=)
c.485+19263A>G (n.485+19263A>G)
c.1012T>C (p.Leu338=)
c.1327T>C (p.Leu443=)
c.1282T>C (p.Leu428=)
c.1189T>C (p.Leu397=)
9g.36223442A>TCA373427378CLTA,GNEc.1435T>A (p.Leu479Ile)
c.1165T>A (p.Leu389Ile)
c.1342T>A (p.Leu448Ile)
c.485+19263A>T (n.485+19263A>T)
c.1012T>A (p.Leu338Ile)
c.1327T>A (p.Leu443Ile)
c.1282T>A (p.Leu428Ile)
c.1189T>A (p.Leu397Ile)
9g.36223443A>CCA373427380CLTA,GNEc.1434T>G (p.Asn478Lys)
c.1164T>G (p.Asn388Lys)
c.1341T>G (p.Asn447Lys)
c.485+19264A>C (n.485+19264A>C)
c.1011T>G (p.Asn337Lys)
c.1326T>G (p.Asn442Lys)
c.1281T>G (p.Asn427Lys)
c.1188T>G (p.Asn396Lys)
9g.36223443A>GCA464495402CLTA,GNEc.1434T>C (p.Asn478=)
c.1164T>C (p.Asn388=)
c.1341T>C (p.Asn447=)
c.485+19264A>G (n.485+19264A>G)
c.1011T>C (p.Asn337=)
c.1326T>C (p.Asn442=)
c.1281T>C (p.Asn427=)
c.1188T>C (p.Asn396=)
9g.36223443A>TCA373427382CLTA,GNEc.1434T>A (p.Asn478Lys)
c.1164T>A (p.Asn388Lys)
c.1341T>A (p.Asn447Lys)
c.485+19264A>T (n.485+19264A>T)
c.1011T>A (p.Asn337Lys)
c.1326T>A (p.Asn442Lys)
c.1281T>A (p.Asn427Lys)
c.1188T>A (p.Asn396Lys)
 gnomAD v4
9g.36223444T>ACA373427383CLTA,GNEc.1433A>T (p.Asn478Ile)
c.1163A>T (p.Asn388Ile)
c.1340A>T (p.Asn447Ile)
c.485+19265T>A (n.485+19265T>A)
c.1010A>T (p.Asn337Ile)
c.1325A>T (p.Asn442Ile)
c.1280A>T (p.Asn427Ile)
c.1187A>T (p.Asn396Ile)
9g.36223444T>CCA373427385CLTA,GNEc.1433A>G (p.Asn478Ser)
c.1163A>G (p.Asn388Ser)
c.1340A>G (p.Asn447Ser)
c.485+19265T>C (n.485+19265T>C)
c.1010A>G (p.Asn337Ser)
c.1325A>G (p.Asn442Ser)
c.1280A>G (p.Asn427Ser)
c.1187A>G (p.Asn396Ser)
9g.36223444T>GCA373427386CLTA,GNEc.1433A>C (p.Asn478Thr)
c.1163A>C (p.Asn388Thr)
c.1340A>C (p.Asn447Thr)
c.485+19265T>G (n.485+19265T>G)
c.1010A>C (p.Asn337Thr)
c.1325A>C (p.Asn442Thr)
c.1280A>C (p.Asn427Thr)
c.1187A>C (p.Asn396Thr)
9g.36223445T>ACA373427393CLTA,GNEc.1432A>T (p.Asn478Tyr)
c.1162A>T (p.Asn388Tyr)
c.1339A>T (p.Asn447Tyr)
c.485+19266T>A (n.485+19266T>A)
c.1009A>T (p.Asn337Tyr)
c.1324A>T (p.Asn442Tyr)
c.1279A>T (p.Asn427Tyr)
c.1186A>T (p.Asn396Tyr)
9g.36223445T>CCA373427395CLTA,GNEc.1432A>G (p.Asn478Asp)
c.1162A>G (p.Asn388Asp)
c.1339A>G (p.Asn447Asp)
c.485+19266T>C (n.485+19266T>C)
c.1009A>G (p.Asn337Asp)
c.1324A>G (p.Asn442Asp)
c.1279A>G (p.Asn427Asp)
c.1186A>G (p.Asn396Asp)
9g.36223445T>GCA373427397CLTA,GNEc.1432A>C (p.Asn478His)
c.1162A>C (p.Asn388His)
c.1339A>C (p.Asn447His)
c.485+19266T>G (n.485+19266T>G)
c.1009A>C (p.Asn337His)
c.1324A>C (p.Asn442His)
c.1279A>C (p.Asn427His)
c.1186A>C (p.Asn396His)
9g.36223446A>CCA373427398CLTA,GNEc.1431T>G (p.Ile477Met)
c.1161T>G (p.Ile387Met)
c.1338T>G (p.Ile446Met)
c.485+19267A>C (n.485+19267A>C)
c.1008T>G (p.Ile336Met)
c.1323T>G (p.Ile441Met)
c.1278T>G (p.Ile426Met)
c.1185T>G (p.Ile395Met)
9g.36223446A>GCA464495403CLTA,GNEc.1431T>C (p.Ile477=)
c.1161T>C (p.Ile387=)
c.1338T>C (p.Ile446=)
c.485+19267A>G (n.485+19267A>G)
c.1008T>C (p.Ile336=)
c.1323T>C (p.Ile441=)
c.1278T>C (p.Ile426=)
c.1185T>C (p.Ile395=)
9g.36223446A>TCA464495404CLTA,GNEc.1431T>A (p.Ile477=)
c.1161T>A (p.Ile387=)
c.1338T>A (p.Ile446=)
c.485+19267A>T (n.485+19267A>T)
c.1008T>A (p.Ile336=)
c.1323T>A (p.Ile441=)
c.1278T>A (p.Ile426=)
c.1185T>A (p.Ile395=)
9g.36223447A>CCA373427402CLTA,GNEc.1430T>G (p.Ile477Ser)
c.1160T>G (p.Ile387Ser)
c.1337T>G (p.Ile446Ser)
c.485+19268A>C (n.485+19268A>C)
c.1007T>G (p.Ile336Ser)
c.1322T>G (p.Ile441Ser)
c.1277T>G (p.Ile426Ser)
c.1184T>G (p.Ile395Ser)
9g.36223447A>GCA373427399CLTA,GNEc.1430T>C (p.Ile477Thr)
c.1160T>C (p.Ile387Thr)
c.1337T>C (p.Ile446Thr)
c.485+19268A>G (n.485+19268A>G)
c.1007T>C (p.Ile336Thr)
c.1322T>C (p.Ile441Thr)
c.1277T>C (p.Ile426Thr)
c.1184T>C (p.Ile395Thr)
9g.36223447A>TCA373427401CLTA,GNEc.1430T>A (p.Ile477Asn)
c.1160T>A (p.Ile387Asn)
c.1337T>A (p.Ile446Asn)
c.485+19268A>T (n.485+19268A>T)
c.1007T>A (p.Ile336Asn)
c.1322T>A (p.Ile441Asn)
c.1277T>A (p.Ile426Asn)
c.1184T>A (p.Ile395Asn)
9g.36223448T>ACA373427404CLTA,GNEc.1429A>T (p.Ile477Phe)
c.1159A>T (p.Ile387Phe)
c.1336A>T (p.Ile446Phe)
c.485+19269T>A (n.485+19269T>A)
c.1006A>T (p.Ile336Phe)
c.1321A>T (p.Ile441Phe)
c.1276A>T (p.Ile426Phe)
c.1183A>T (p.Ile395Phe)
9g.36223448T>CCA373427407CLTA,GNEc.1429A>G (p.Ile477Val)
c.1159A>G (p.Ile387Val)
c.1336A>G (p.Ile446Val)
c.485+19269T>C (n.485+19269T>C)
c.1006A>G (p.Ile336Val)
c.1321A>G (p.Ile441Val)
c.1276A>G (p.Ile426Val)
c.1183A>G (p.Ile395Val)
9g.36223448T>GCA373427405CLTA,GNEc.1429A>C (p.Ile477Leu)
c.1159A>C (p.Ile387Leu)
c.1336A>C (p.Ile446Leu)
c.485+19269T>G (n.485+19269T>G)
c.1006A>C (p.Ile336Leu)
c.1321A>C (p.Ile441Leu)
c.1276A>C (p.Ile426Leu)
c.1183A>C (p.Ile395Leu)
9g.36223449C>ACA373427408CLTA,GNEc.1428G>T (p.Arg476Ser)
c.1158G>T (p.Arg386Ser)
c.1335G>T (p.Arg445Ser)
c.485+19270C>A (n.485+19270C>A)
c.1005G>T (p.Arg335Ser)
c.1320G>T (p.Arg440Ser)
c.1275G>T (p.Arg425Ser)
c.1182G>T (p.Arg394Ser)
9g.36223449C>GCA373427409CLTA,GNEc.1428G>C (p.Arg476Ser)
c.1158G>C (p.Arg386Ser)
c.1335G>C (p.Arg445Ser)
c.485+19270C>G (n.485+19270C>G)
c.1005G>C (p.Arg335Ser)
c.1320G>C (p.Arg440Ser)
c.1275G>C (p.Arg425Ser)
c.1182G>C (p.Arg394Ser)
 COSMIC COSMIC COSMIC
9g.36223449C>TCA464495405CLTA,GNEc.1428G>A (p.Arg476=)
c.1158G>A (p.Arg386=)
c.1335G>A (p.Arg445=)
c.485+19270C>T (n.485+19270C>T)
c.1005G>A (p.Arg335=)
c.1320G>A (p.Arg440=)
c.1275G>A (p.Arg425=)
c.1182G>A (p.Arg394=)
 gnomAD v4
9g.36223450C>ACA373427411CLTA,GNEc.1427G>T (p.Arg476Met)
c.1157G>T (p.Arg386Met)
c.1334G>T (p.Arg445Met)
c.485+19271C>A (n.485+19271C>A)
c.1004G>T (p.Arg335Met)
c.1319G>T (p.Arg440Met)
c.1274G>T (p.Arg425Met)
c.1181G>T (p.Arg394Met)
9g.36223450C=CA1846334451CLTA,GNEc.1427G= (p.Arg476=)
c.1157G= (p.Arg386=)
c.1334G= (p.Arg445=)
c.485+19271C= (n.485+19271C=)
c.1004G= (p.Arg335=)
c.1319G= (p.Arg440=)
c.1274G= (p.Arg425=)
c.1181G= (p.Arg394=)
9g.36223450C>GCA5056501CLTA,GNEc.1427G>C (p.Arg476Thr)
c.1157G>C (p.Arg386Thr)
c.1334G>C (p.Arg445Thr)
c.485+19271C>G (n.485+19271C>G)
c.1004G>C (p.Arg335Thr)
c.1319G>C (p.Arg440Thr)
c.1274G>C (p.Arg425Thr)
c.1181G>C (p.Arg394Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223450C>TCA192843981CLTA,GNEc.1427G>A (p.Arg476Lys)
c.1157G>A (p.Arg386Lys)
c.1334G>A (p.Arg445Lys)
c.485+19271C>T (n.485+19271C>T)
c.1004G>A (p.Arg335Lys)
c.1319G>A (p.Arg440Lys)
c.1274G>A (p.Arg425Lys)
c.1181G>A (p.Arg394Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.36223451T>ACA373427414CLTA,GNEc.1426A>T (p.Arg476Trp)
c.1156A>T (p.Arg386Trp)
c.1333A>T (p.Arg445Trp)
c.485+19272T>A (n.485+19272T>A)
c.1003A>T (p.Arg335Trp)
c.1318A>T (p.Arg440Trp)
c.1273A>T (p.Arg425Trp)
c.1180A>T (p.Arg394Trp)
9g.36223451T>CCA373427415CLTA,GNEc.1426A>G (p.Arg476Gly)
c.1156A>G (p.Arg386Gly)
c.1333A>G (p.Arg445Gly)
c.485+19272T>C (n.485+19272T>C)
c.1003A>G (p.Arg335Gly)
c.1318A>G (p.Arg440Gly)
c.1273A>G (p.Arg425Gly)
c.1180A>G (p.Arg394Gly)
 gnomAD v4
9g.36223451T>GCA464495406CLTA,GNEc.1426A>C (p.Arg476=)
c.1156A>C (p.Arg386=)
c.1333A>C (p.Arg445=)
c.485+19272T>G (n.485+19272T>G)
c.1003A>C (p.Arg335=)
c.1318A>C (p.Arg440=)
c.1273A>C (p.Arg425=)
c.1180A>C (p.Arg394=)
9g.36223451_36223452insACA2689945895CLTA,GNEc.1425_1426insT (p.Arg476Ter)
c.1155_1156insT (p.Arg386Ter)
c.1332_1333insT (p.Arg445Ter)
c.485+19272_485+19273insA (n.485+19272_485+19273insA)
c.1002_1003insT (p.Arg335Ter)
c.1317_1318insT (p.Arg440Ter)
c.1272_1273insT (p.Arg425Ter)
c.1179_1180insT (p.Arg394Ter)
 gnomAD v4
9g.36223452C>ACA373427417CLTA,GNEc.1425G>T (p.Glu475Asp)
c.1155G>T (p.Glu385Asp)
c.1332G>T (p.Glu444Asp)
c.485+19273C>A (n.485+19273C>A)
c.1002G>T (p.Glu334Asp)
c.1317G>T (p.Glu439Asp)
c.1272G>T (p.Glu424Asp)
c.1179G>T (p.Glu393Asp)
9g.36223452C=CA1846334455CLTA,GNEc.1425G= (p.Glu475=)
c.1155G= (p.Glu385=)
c.1332G= (p.Glu444=)
c.485+19273C= (n.485+19273C=)
c.1002G= (p.Glu334=)
c.1317G= (p.Glu439=)
c.1272G= (p.Glu424=)
c.1179G= (p.Glu393=)
9g.36223452C>GCA373427419CLTA,GNEc.1425G>C (p.Glu475Asp)
c.1155G>C (p.Glu385Asp)
c.1332G>C (p.Glu444Asp)
c.485+19273C>G (n.485+19273C>G)
c.1002G>C (p.Glu334Asp)
c.1317G>C (p.Glu439Asp)
c.1272G>C (p.Glu424Asp)
c.1179G>C (p.Glu393Asp)
 ClinVar dbSNP
9g.36223452C>TCA464495407CLTA,GNEc.1425G>A (p.Glu475=)
c.1155G>A (p.Glu385=)
c.1332G>A (p.Glu444=)
c.485+19273C>T (n.485+19273C>T)
c.1002G>A (p.Glu334=)
c.1317G>A (p.Glu439=)
c.1272G>A (p.Glu424=)
c.1179G>A (p.Glu393=)
9g.36223452_36223457delCA2689945896CLTA,GNEc.1420_1425del (p.Glu474_Glu475del)
c.1150_1155del (p.Glu384_Glu385del)
c.1327_1332del (p.Glu443_Glu444del)
c.485+19273_485+19278del (n.485+19273_485+19278del)
c.997_1002del (p.Glu333_Glu334del)
c.1312_1317del (p.Glu438_Glu439del)
c.1267_1272del (p.Glu423_Glu424del)
c.1174_1179del (p.Glu392_Glu393del)
 gnomAD v4
9g.36223453T>ACA373427420CLTA,GNEc.1424A>T (p.Glu475Val)
c.1154A>T (p.Glu385Val)
c.1331A>T (p.Glu444Val)
c.485+19274T>A (n.485+19274T>A)
c.1001A>T (p.Glu334Val)
c.1316A>T (p.Glu439Val)
c.1271A>T (p.Glu424Val)
c.1178A>T (p.Glu393Val)
9g.36223453T>CCA373427422CLTA,GNEc.1424A>G (p.Glu475Gly)
c.1154A>G (p.Glu385Gly)
c.1331A>G (p.Glu444Gly)
c.485+19274T>C (n.485+19274T>C)
c.1001A>G (p.Glu334Gly)
c.1316A>G (p.Glu439Gly)
c.1271A>G (p.Glu424Gly)
c.1178A>G (p.Glu393Gly)
 dbSNP
9g.36223453T>GCA373427424CLTA,GNEc.1424A>C (p.Glu475Ala)
c.1154A>C (p.Glu385Ala)
c.1331A>C (p.Glu444Ala)
c.485+19274T>G (n.485+19274T>G)
c.1001A>C (p.Glu334Ala)
c.1316A>C (p.Glu439Ala)
c.1271A>C (p.Glu424Ala)
c.1178A>C (p.Glu393Ala)
9g.36223453T=CA1846334486CLTA,GNEc.1424A= (p.Glu475=)
c.1154A= (p.Glu385=)
c.1331A= (p.Glu444=)
c.485+19274T= (n.485+19274T=)
c.1001A= (p.Glu334=)
c.1316A= (p.Glu439=)
c.1271A= (p.Glu424=)
c.1178A= (p.Glu393=)
9g.36223454C>ACA373427426CLTA,GNEc.1423G>T (p.Glu475Ter)
c.1153G>T (p.Glu385Ter)
c.1330G>T (p.Glu444Ter)
c.485+19275C>A (n.485+19275C>A)
c.1000G>T (p.Glu334Ter)
c.1315G>T (p.Glu439Ter)
c.1270G>T (p.Glu424Ter)
c.1177G>T (p.Glu393Ter)
9g.36223454C>GCA373427428CLTA,GNEc.1423G>C (p.Glu475Gln)
c.1153G>C (p.Glu385Gln)
c.1330G>C (p.Glu444Gln)
c.485+19275C>G (n.485+19275C>G)
c.1000G>C (p.Glu334Gln)
c.1315G>C (p.Glu439Gln)
c.1270G>C (p.Glu424Gln)
c.1177G>C (p.Glu393Gln)
9g.36223454C>TCA373427427CLTA,GNEc.1423G>A (p.Glu475Lys)
c.1153G>A (p.Glu385Lys)
c.1330G>A (p.Glu444Lys)
c.485+19275C>T (n.485+19275C>T)
c.1000G>A (p.Glu334Lys)
c.1315G>A (p.Glu439Lys)
c.1270G>A (p.Glu424Lys)
c.1177G>A (p.Glu393Lys)
9g.36223455T>ACA373427429CLTA,GNEc.1422A>T (p.Glu474Asp)
c.1152A>T (p.Glu384Asp)
c.1329A>T (p.Glu443Asp)
c.485+19276T>A (n.485+19276T>A)
c.999A>T (p.Glu333Asp)
c.1314A>T (p.Glu438Asp)
c.1269A>T (p.Glu423Asp)
c.1176A>T (p.Glu392Asp)
9g.36223455T>CCA464495408CLTA,GNEc.1422A>G (p.Glu474=)
c.1152A>G (p.Glu384=)
c.1329A>G (p.Glu443=)
c.485+19276T>C (n.485+19276T>C)
c.999A>G (p.Glu333=)
c.1314A>G (p.Glu438=)
c.1269A>G (p.Glu423=)
c.1176A>G (p.Glu392=)
9g.36223455T>GCA373427430CLTA,GNEc.1422A>C (p.Glu474Asp)
c.1152A>C (p.Glu384Asp)
c.1329A>C (p.Glu443Asp)
c.485+19276T>G (n.485+19276T>G)
c.999A>C (p.Glu333Asp)
c.1314A>C (p.Glu438Asp)
c.1269A>C (p.Glu423Asp)
c.1176A>C (p.Glu392Asp)
 dbSNP gnomAD v2
9g.36223455T=CA1846334491CLTA,GNEc.1422A= (p.Glu474=)
c.1152A= (p.Glu384=)
c.1329A= (p.Glu443=)
c.485+19276T= (n.485+19276T=)
c.999A= (p.Glu333=)
c.1314A= (p.Glu438=)
c.1269A= (p.Glu423=)
c.1176A= (p.Glu392=)
9g.36223456T>ACA373427432CLTA,GNEc.1421A>T (p.Glu474Val)
c.1151A>T (p.Glu384Val)
c.1328A>T (p.Glu443Val)
c.485+19277T>A (n.485+19277T>A)
c.998A>T (p.Glu333Val)
c.1313A>T (p.Glu438Val)
c.1268A>T (p.Glu423Val)
c.1175A>T (p.Glu392Val)
9g.36223456T>CCA373427435CLTA,GNEc.1421A>G (p.Glu474Gly)
c.1151A>G (p.Glu384Gly)
c.1328A>G (p.Glu443Gly)
c.485+19277T>C (n.485+19277T>C)
c.998A>G (p.Glu333Gly)
c.1313A>G (p.Glu438Gly)
c.1268A>G (p.Glu423Gly)
c.1175A>G (p.Glu392Gly)
9g.36223456T>GCA373427437CLTA,GNEc.1421A>C (p.Glu474Ala)
c.1151A>C (p.Glu384Ala)
c.1328A>C (p.Glu443Ala)
c.485+19277T>G (n.485+19277T>G)
c.998A>C (p.Glu333Ala)
c.1313A>C (p.Glu438Ala)
c.1268A>C (p.Glu423Ala)
c.1175A>C (p.Glu392Ala)
9g.36223457C>ACA373427438CLTA,GNEc.1420G>T (p.Glu474Ter)
c.1150G>T (p.Glu384Ter)
c.1327G>T (p.Glu443Ter)
c.485+19278C>A (n.485+19278C>A)
c.997G>T (p.Glu333Ter)
c.1312G>T (p.Glu438Ter)
c.1267G>T (p.Glu423Ter)
c.1174G>T (p.Glu392Ter)
9g.36223457C=CA1846334500CLTA,GNEc.1420G= (p.Glu474=)
c.1150G= (p.Glu384=)
c.1327G= (p.Glu443=)
c.485+19278C= (n.485+19278C=)
c.997G= (p.Glu333=)
c.1312G= (p.Glu438=)
c.1267G= (p.Glu423=)
c.1174G= (p.Glu392=)
9g.36223457C>GCA373427439CLTA,GNEc.1420G>C (p.Glu474Gln)
c.1150G>C (p.Glu384Gln)
c.1327G>C (p.Glu443Gln)
c.485+19278C>G (n.485+19278C>G)
c.997G>C (p.Glu333Gln)
c.1312G>C (p.Glu438Gln)
c.1267G>C (p.Glu423Gln)
c.1174G>C (p.Glu392Gln)
9g.36223457C>TCA373427440CLTA,GNEc.1420G>A (p.Glu474Lys)
c.1150G>A (p.Glu384Lys)
c.1327G>A (p.Glu443Lys)
c.485+19278C>T (n.485+19278C>T)
c.997G>A (p.Glu333Lys)
c.1312G>A (p.Glu438Lys)
c.1267G>A (p.Glu423Lys)
c.1174G>A (p.Glu392Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36223458A>CCA373427442CLTA,GNEc.1419T>G (p.Tyr473Ter)
c.1149T>G (p.Tyr383Ter)
c.1326T>G (p.Tyr442Ter)
c.485+19279A>C (n.485+19279A>C)
c.996T>G (p.Tyr332Ter)
c.1311T>G (p.Tyr437Ter)
c.1266T>G (p.Tyr422Ter)
c.1173T>G (p.Tyr391Ter)
9g.36223458A>GCA464495409CLTA,GNEc.1419T>C (p.Tyr473=)
c.1149T>C (p.Tyr383=)
c.1326T>C (p.Tyr442=)
c.485+19279A>G (n.485+19279A>G)
c.996T>C (p.Tyr332=)
c.1311T>C (p.Tyr437=)
c.1266T>C (p.Tyr422=)
c.1173T>C (p.Tyr391=)
 ClinVar
9g.36223458A>TCA373427444CLTA,GNEc.1419T>A (p.Tyr473Ter)
c.1149T>A (p.Tyr383Ter)
c.1326T>A (p.Tyr442Ter)
c.485+19279A>T (n.485+19279A>T)
c.996T>A (p.Tyr332Ter)
c.1311T>A (p.Tyr437Ter)
c.1266T>A (p.Tyr422Ter)
c.1173T>A (p.Tyr391Ter)
9g.36223459T>ACA373427449CLTA,GNEc.1418A>T (p.Tyr473Phe)
c.1148A>T (p.Tyr383Phe)
c.1325A>T (p.Tyr442Phe)
c.485+19280T>A (n.485+19280T>A)
c.995A>T (p.Tyr332Phe)
c.1310A>T (p.Tyr437Phe)
c.1265A>T (p.Tyr422Phe)
c.1172A>T (p.Tyr391Phe)
9g.36223459T>CCA373427447CLTA,GNEc.1418A>G (p.Tyr473Cys)
c.1148A>G (p.Tyr383Cys)
c.1325A>G (p.Tyr442Cys)
c.485+19280T>C (n.485+19280T>C)
c.995A>G (p.Tyr332Cys)
c.1310A>G (p.Tyr437Cys)
c.1265A>G (p.Tyr422Cys)
c.1172A>G (p.Tyr391Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36223459T>GCA373427445CLTA,GNEc.1418A>C (p.Tyr473Ser)
c.1148A>C (p.Tyr383Ser)
c.1325A>C (p.Tyr442Ser)
c.485+19280T>G (n.485+19280T>G)
c.995A>C (p.Tyr332Ser)
c.1310A>C (p.Tyr437Ser)
c.1265A>C (p.Tyr422Ser)
c.1172A>C (p.Tyr391Ser)
9g.36223459T=CA1846334504CLTA,GNEc.1418A= (p.Tyr473=)
c.1148A= (p.Tyr383=)
c.1325A= (p.Tyr442=)
c.485+19280T= (n.485+19280T=)
c.995A= (p.Tyr332=)
c.1310A= (p.Tyr437=)
c.1265A= (p.Tyr422=)
c.1172A= (p.Tyr391=)
9g.36223460A>CCA373427453CLTA,GNEc.1417T>G (p.Tyr473Asp)
c.1147T>G (p.Tyr383Asp)
c.1324T>G (p.Tyr442Asp)
c.485+19281A>C (n.485+19281A>C)
c.994T>G (p.Tyr332Asp)
c.1309T>G (p.Tyr437Asp)
c.1264T>G (p.Tyr422Asp)
c.1171T>G (p.Tyr391Asp)
9g.36223460A>GCA373427451CLTA,GNEc.1417T>C (p.Tyr473His)
c.1147T>C (p.Tyr383His)
c.1324T>C (p.Tyr442His)
c.485+19281A>G (n.485+19281A>G)
c.994T>C (p.Tyr332His)
c.1309T>C (p.Tyr437His)
c.1264T>C (p.Tyr422His)
c.1171T>C (p.Tyr391His)
9g.36223460A>TCA373427452CLTA,GNEc.1417T>A (p.Tyr473Asn)
c.1147T>A (p.Tyr383Asn)
c.1324T>A (p.Tyr442Asn)
c.485+19281A>T (n.485+19281A>T)
c.994T>A (p.Tyr332Asn)
c.1309T>A (p.Tyr437Asn)
c.1264T>A (p.Tyr422Asn)
c.1171T>A (p.Tyr391Asn)
9g.36223461G>ACA464495410CLTA,GNEc.1416C>T (p.Thr472=)
c.1146C>T (p.Thr382=)
c.1323C>T (p.Thr441=)
c.485+19282G>A (n.485+19282G>A)
c.993C>T (p.Thr331=)
c.1308C>T (p.Thr436=)
c.1263C>T (p.Thr421=)
c.1170C>T (p.Thr390=)
 ClinVar gnomAD v4
9g.36223461G>CCA464495411CLTA,GNEc.1416C>G (p.Thr472=)
c.1146C>G (p.Thr382=)
c.1323C>G (p.Thr441=)
c.485+19282G>C (n.485+19282G>C)
c.993C>G (p.Thr331=)
c.1308C>G (p.Thr436=)
c.1263C>G (p.Thr421=)
c.1170C>G (p.Thr390=)
9g.36223461G>TCA464495412CLTA,GNEc.1416C>A (p.Thr472=)
c.1146C>A (p.Thr382=)
c.1323C>A (p.Thr441=)
c.485+19282G>T (n.485+19282G>T)
c.993C>A (p.Thr331=)
c.1308C>A (p.Thr436=)
c.1263C>A (p.Thr421=)
c.1170C>A (p.Thr390=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
9g.36223462G>ACA373427455CLTA,GNEc.1415C>T (p.Thr472Ile)
c.1145C>T (p.Thr382Ile)
c.1322C>T (p.Thr441Ile)
c.485+19283G>A (n.485+19283G>A)
c.992C>T (p.Thr331Ile)
c.1307C>T (p.Thr436Ile)
c.1262C>T (p.Thr421Ile)
c.1169C>T (p.Thr390Ile)
9g.36223462G>CCA373427457CLTA,GNEc.1415C>G (p.Thr472Ser)
c.1145C>G (p.Thr382Ser)
c.1322C>G (p.Thr441Ser)
c.485+19283G>C (n.485+19283G>C)
c.992C>G (p.Thr331Ser)
c.1307C>G (p.Thr436Ser)
c.1262C>G (p.Thr421Ser)
c.1169C>G (p.Thr390Ser)
 gnomAD v4
9g.36223462G>TCA373427458CLTA,GNEc.1415C>A (p.Thr472Asn)
c.1145C>A (p.Thr382Asn)
c.1322C>A (p.Thr441Asn)
c.485+19283G>T (n.485+19283G>T)
c.992C>A (p.Thr331Asn)
c.1307C>A (p.Thr436Asn)
c.1262C>A (p.Thr421Asn)
c.1169C>A (p.Thr390Asn)
9g.36223463T>ACA373427460CLTA,GNEc.1414A>T (p.Thr472Ser)
c.1144A>T (p.Thr382Ser)
c.1321A>T (p.Thr441Ser)
c.485+19284T>A (n.485+19284T>A)
c.991A>T (p.Thr331Ser)
c.1306A>T (p.Thr436Ser)
c.1261A>T (p.Thr421Ser)
c.1168A>T (p.Thr390Ser)
9g.36223463T>CCA373427461CLTA,GNEc.1414A>G (p.Thr472Ala)
c.1144A>G (p.Thr382Ala)
c.1321A>G (p.Thr441Ala)
c.485+19284T>C (n.485+19284T>C)
c.991A>G (p.Thr331Ala)
c.1306A>G (p.Thr436Ala)
c.1261A>G (p.Thr421Ala)
c.1168A>G (p.Thr390Ala)
9g.36223463T>GCA373427462CLTA,GNEc.1414A>C (p.Thr472Pro)
c.1144A>C (p.Thr382Pro)
c.1321A>C (p.Thr441Pro)
c.485+19284T>G (n.485+19284T>G)
c.991A>C (p.Thr331Pro)
c.1306A>C (p.Thr436Pro)
c.1261A>C (p.Thr421Pro)
c.1168A>C (p.Thr390Pro)
9g.36223464T>ACA373427463CLTA,GNEc.1413A>T (p.Lys471Asn)
c.1143A>T (p.Lys381Asn)
c.1320A>T (p.Lys440Asn)
c.485+19285T>A (n.485+19285T>A)
c.990A>T (p.Lys330Asn)
c.1305A>T (p.Lys435Asn)
c.1260A>T (p.Lys420Asn)
c.1167A>T (p.Lys389Asn)
9g.36223464T>CCA464495413CLTA,GNEc.1413A>G (p.Lys471=)
c.1143A>G (p.Lys381=)
c.1320A>G (p.Lys440=)
c.485+19285T>C (n.485+19285T>C)
c.990A>G (p.Lys330=)
c.1305A>G (p.Lys435=)
c.1260A>G (p.Lys420=)
c.1167A>G (p.Lys389=)
9g.36223464T>GCA373427464CLTA,GNEc.1413A>C (p.Lys471Asn)
c.1143A>C (p.Lys381Asn)
c.1320A>C (p.Lys440Asn)
c.485+19285T>G (n.485+19285T>G)
c.990A>C (p.Lys330Asn)
c.1305A>C (p.Lys435Asn)
c.1260A>C (p.Lys420Asn)
c.1167A>C (p.Lys389Asn)
 dbSNP COSMIC COSMIC COSMIC
9g.36223464T=CA1846334508CLTA,GNEc.1413A= (p.Lys471=)
c.1143A= (p.Lys381=)
c.1320A= (p.Lys440=)
c.485+19285T= (n.485+19285T=)
c.990A= (p.Lys330=)
c.1305A= (p.Lys435=)
c.1260A= (p.Lys420=)
c.1167A= (p.Lys389=)
9g.36223465T>ACA373427466CLTA,GNEc.1412A>T (p.Lys471Ile)
c.1142A>T (p.Lys381Ile)
c.1319A>T (p.Lys440Ile)
c.485+19286T>A (n.485+19286T>A)
c.989A>T (p.Lys330Ile)
c.1304A>T (p.Lys435Ile)
c.1259A>T (p.Lys420Ile)
c.1166A>T (p.Lys389Ile)
9g.36223465T>CCA373427468CLTA,GNEc.1412A>G (p.Lys471Arg)
c.1142A>G (p.Lys381Arg)
c.1319A>G (p.Lys440Arg)
c.485+19286T>C (n.485+19286T>C)
c.989A>G (p.Lys330Arg)
c.1304A>G (p.Lys435Arg)
c.1259A>G (p.Lys420Arg)
c.1166A>G (p.Lys389Arg)
9g.36223465T>GCA5056502CLTA,GNEc.1412A>C (p.Lys471Thr)
c.1142A>C (p.Lys381Thr)
c.1319A>C (p.Lys440Thr)
c.485+19286T>G (n.485+19286T>G)
c.989A>C (p.Lys330Thr)
c.1304A>C (p.Lys435Thr)
c.1259A>C (p.Lys420Thr)
c.1166A>C (p.Lys389Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36223465T=CA1846334516CLTA,GNEc.1412A= (p.Lys471=)
c.1142A= (p.Lys381=)
c.1319A= (p.Lys440=)
c.485+19286T= (n.485+19286T=)
c.989A= (p.Lys330=)
c.1304A= (p.Lys435=)
c.1259A= (p.Lys420=)
c.1166A= (p.Lys389=)
9g.36223466T>ACA373427476CLTA,GNEc.1411A>T (p.Lys471Ter)
c.1141A>T (p.Lys381Ter)
c.1318A>T (p.Lys440Ter)
c.485+19287T>A (n.485+19287T>A)
c.988A>T (p.Lys330Ter)
c.1303A>T (p.Lys435Ter)
c.1258A>T (p.Lys420Ter)
c.1165A>T (p.Lys389Ter)
9g.36223466T>CCA373427473CLTA,GNEc.1411A>G (p.Lys471Glu)
c.1141A>G (p.Lys381Glu)
c.1318A>G (p.Lys440Glu)
c.485+19287T>C (n.485+19287T>C)
c.988A>G (p.Lys330Glu)
c.1303A>G (p.Lys435Glu)
c.1258A>G (p.Lys420Glu)
c.1165A>G (p.Lys389Glu)
9g.36223466T>GCA373427474CLTA,GNEc.1411A>C (p.Lys471Gln)
c.1141A>C (p.Lys381Gln)
c.1318A>C (p.Lys440Gln)
c.485+19287T>G (n.485+19287T>G)
c.988A>C (p.Lys330Gln)
c.1303A>C (p.Lys435Gln)
c.1258A>C (p.Lys420Gln)
c.1165A>C (p.Lys389Gln)
9g.36223467A=CA1846334522CLTA,GNEc.1410T= (p.Pro470=)
c.1140T= (p.Pro380=)
c.1317T= (p.Pro439=)
c.485+19288A= (n.485+19288A=)
c.987T= (p.Pro329=)
c.1302T= (p.Pro434=)
c.1257T= (p.Pro419=)
c.1164T= (p.Pro388=)
9g.36223467A>CCA464495414CLTA,GNEc.1410T>G (p.Pro470=)
c.1140T>G (p.Pro380=)
c.1317T>G (p.Pro439=)
c.485+19288A>C (n.485+19288A>C)
c.987T>G (p.Pro329=)
c.1302T>G (p.Pro434=)
c.1257T>G (p.Pro419=)
c.1164T>G (p.Pro388=)
9g.36223467A>GCA192843991CLTA,GNEc.1410T>C (p.Pro470=)
c.1140T>C (p.Pro380=)
c.1317T>C (p.Pro439=)
c.485+19288A>G (n.485+19288A>G)
c.987T>C (p.Pro329=)
c.1302T>C (p.Pro434=)
c.1257T>C (p.Pro419=)
c.1164T>C (p.Pro388=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36223467A>TCA464495415CLTA,GNEc.1410T>A (p.Pro470=)
c.1140T>A (p.Pro380=)
c.1317T>A (p.Pro439=)
c.485+19288A>T (n.485+19288A>T)
c.987T>A (p.Pro329=)
c.1302T>A (p.Pro434=)
c.1257T>A (p.Pro419=)
c.1164T>A (p.Pro388=)
9g.36223468G>ACA373427479CLTA,GNEc.1409C>T (p.Pro470Leu)
c.1139C>T (p.Pro380Leu)
c.1316C>T (p.Pro439Leu)
c.485+19289G>A (n.485+19289G>A)
c.986C>T (p.Pro329Leu)
c.1301C>T (p.Pro434Leu)
c.1256C>T (p.Pro419Leu)
c.1163C>T (p.Pro388Leu)
9g.36223468G>CCA373427480CLTA,GNEc.1409C>G (p.Pro470Arg)
c.1139C>G (p.Pro380Arg)
c.1316C>G (p.Pro439Arg)
c.485+19289G>C (n.485+19289G>C)
c.986C>G (p.Pro329Arg)
c.1301C>G (p.Pro434Arg)
c.1256C>G (p.Pro419Arg)
c.1163C>G (p.Pro388Arg)
 dbSNP gnomAD v4
9g.36223468G=CA1846334527CLTA,GNEc.1409C= (p.Pro470=)
c.1139C= (p.Pro380=)
c.1316C= (p.Pro439=)
c.485+19289G= (n.485+19289G=)
c.986C= (p.Pro329=)
c.1301C= (p.Pro434=)
c.1256C= (p.Pro419=)
c.1163C= (p.Pro388=)
9g.36223468G>TCA373427481CLTA,GNEc.1409C>A (p.Pro470His)
c.1139C>A (p.Pro380His)
c.1316C>A (p.Pro439His)
c.485+19289G>T (n.485+19289G>T)
c.986C>A (p.Pro329His)
c.1301C>A (p.Pro434His)
c.1256C>A (p.Pro419His)
c.1163C>A (p.Pro388His)
 gnomAD v4
9g.36223469G>ACA373427483CLTA,GNEc.1408C>T (p.Pro470Ser)
c.1138C>T (p.Pro380Ser)
c.1315C>T (p.Pro439Ser)
c.485+19290G>A (n.485+19290G>A)
c.985C>T (p.Pro329Ser)
c.1300C>T (p.Pro434Ser)
c.1255C>T (p.Pro419Ser)
c.1162C>T (p.Pro388Ser)
 dbSNP gnomAD v2
9g.36223469G>CCA373427485CLTA,GNEc.1408C>G (p.Pro470Ala)
c.1138C>G (p.Pro380Ala)
c.1315C>G (p.Pro439Ala)
c.485+19290G>C (n.485+19290G>C)
c.985C>G (p.Pro329Ala)
c.1300C>G (p.Pro434Ala)
c.1255C>G (p.Pro419Ala)
c.1162C>G (p.Pro388Ala)
9g.36223469G=CA1846334534CLTA,GNEc.1408C= (p.Pro470=)
c.1138C= (p.Pro380=)
c.1315C= (p.Pro439=)
c.485+19290G= (n.485+19290G=)
c.985C= (p.Pro329=)
c.1300C= (p.Pro434=)
c.1255C= (p.Pro419=)
c.1162C= (p.Pro388=)
9g.36223469G>TCA373427487CLTA,GNEc.1408C>A (p.Pro470Thr)
c.1138C>A (p.Pro380Thr)
c.1315C>A (p.Pro439Thr)
c.485+19290G>T (n.485+19290G>T)
c.985C>A (p.Pro329Thr)
c.1300C>A (p.Pro434Thr)
c.1255C>A (p.Pro419Thr)
c.1162C>A (p.Pro388Thr)
9g.36223470A>CCA373427489CLTA,GNEc.1407T>G (p.Asn469Lys)
c.1137T>G (p.Asn379Lys)
c.1314T>G (p.Asn438Lys)
c.485+19291A>C (n.485+19291A>C)
c.984T>G (p.Asn328Lys)
c.1299T>G (p.Asn433Lys)
c.1254T>G (p.Asn418Lys)
c.1161T>G (p.Asn387Lys)
9g.36223470A>GCA464495416CLTA,GNEc.1407T>C (p.Asn469=)
c.1137T>C (p.Asn379=)
c.1314T>C (p.Asn438=)
c.485+19291A>G (n.485+19291A>G)
c.984T>C (p.Asn328=)
c.1299T>C (p.Asn433=)
c.1254T>C (p.Asn418=)
c.1161T>C (p.Asn387=)
 COSMIC COSMIC COSMIC
9g.36223470A>TCA373427490CLTA,GNEc.1407T>A (p.Asn469Lys)
c.1137T>A (p.Asn379Lys)
c.1314T>A (p.Asn438Lys)
c.485+19291A>T (n.485+19291A>T)
c.984T>A (p.Asn328Lys)
c.1299T>A (p.Asn433Lys)
c.1254T>A (p.Asn418Lys)
c.1161T>A (p.Asn387Lys)
9g.36223471T>ACA5056503CLTA,GNEc.1406A>T (p.Asn469Ile)
c.1136A>T (p.Asn379Ile)
c.1313A>T (p.Asn438Ile)
c.485+19292T>A (n.485+19292T>A)
c.983A>T (p.Asn328Ile)
c.1298A>T (p.Asn433Ile)
c.1253A>T (p.Asn418Ile)
c.1160A>T (p.Asn387Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223471T>CCA373427493CLTA,GNEc.1406A>G (p.Asn469Ser)
c.1136A>G (p.Asn379Ser)
c.1313A>G (p.Asn438Ser)
c.485+19292T>C (n.485+19292T>C)
c.983A>G (p.Asn328Ser)
c.1298A>G (p.Asn433Ser)
c.1253A>G (p.Asn418Ser)
c.1160A>G (p.Asn387Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.36223471T>GCA373427494CLTA,GNEc.1406A>C (p.Asn469Thr)
c.1136A>C (p.Asn379Thr)
c.1313A>C (p.Asn438Thr)
c.485+19292T>G (n.485+19292T>G)
c.983A>C (p.Asn328Thr)
c.1298A>C (p.Asn433Thr)
c.1253A>C (p.Asn418Thr)
c.1160A>C (p.Asn387Thr)
9g.36223471T=CA1846334541CLTA,GNEc.1406A= (p.Asn469=)
c.1136A= (p.Asn379=)
c.1313A= (p.Asn438=)
c.485+19292T= (n.485+19292T=)
c.983A= (p.Asn328=)
c.1298A= (p.Asn433=)
c.1253A= (p.Asn418=)
c.1160A= (p.Asn387=)
9g.36223472T>ACA373427936CLTA,GNEc.1405A>T (p.Asn469Tyr)
c.1135A>T (p.Asn379Tyr)
c.1312A>T (p.Asn438Tyr)
c.485+19293T>A (n.485+19293T>A)
c.982A>T (p.Asn328Tyr)
c.1297A>T (p.Asn433Tyr)
c.1252A>T (p.Asn418Tyr)
c.1159A>T (p.Asn387Tyr)
9g.36223472T>CCA373427937CLTA,GNEc.1405A>G (p.Asn469Asp)
c.1135A>G (p.Asn379Asp)
c.1312A>G (p.Asn438Asp)
c.485+19293T>C (n.485+19293T>C)
c.982A>G (p.Asn328Asp)
c.1297A>G (p.Asn433Asp)
c.1252A>G (p.Asn418Asp)
c.1159A>G (p.Asn387Asp)
 ClinVar dbSNP
9g.36223472T>GCA373427933CLTA,GNEc.1405A>C (p.Asn469His)
c.1135A>C (p.Asn379His)
c.1312A>C (p.Asn438His)
c.485+19293T>G (n.485+19293T>G)
c.982A>C (p.Asn328His)
c.1297A>C (p.Asn433His)
c.1252A>C (p.Asn418His)
c.1159A>C (p.Asn387His)
9g.36223473G>ACA464495418CLTA,GNEc.1404C>T (p.Phe468=)
c.1134C>T (p.Phe378=)
c.1311C>T (p.Phe437=)
c.485+19294G>A (n.485+19294G>A)
c.981C>T (p.Phe327=)
c.1296C>T (p.Phe432=)
c.1251C>T (p.Phe417=)
c.1158C>T (p.Phe386=)
 ClinVar dbSNP gnomAD v4
9g.36223473G>CCA373427939CLTA,GNEc.1404C>G (p.Phe468Leu)
c.1134C>G (p.Phe378Leu)
c.1311C>G (p.Phe437Leu)
c.485+19294G>C (n.485+19294G>C)
c.981C>G (p.Phe327Leu)
c.1296C>G (p.Phe432Leu)
c.1251C>G (p.Phe417Leu)
c.1158C>G (p.Phe386Leu)
9g.36223473G=CA1846334551CLTA,GNEc.1404C= (p.Phe468=)
c.1134C= (p.Phe378=)
c.1311C= (p.Phe437=)
c.485+19294G= (n.485+19294G=)
c.981C= (p.Phe327=)
c.1296C= (p.Phe432=)
c.1251C= (p.Phe417=)
c.1158C= (p.Phe386=)
9g.36223473G>TCA373427940CLTA,GNEc.1404C>A (p.Phe468Leu)
c.1134C>A (p.Phe378Leu)
c.1311C>A (p.Phe437Leu)
c.485+19294G>T (n.485+19294G>T)
c.981C>A (p.Phe327Leu)
c.1296C>A (p.Phe432Leu)
c.1251C>A (p.Phe417Leu)
c.1158C>A (p.Phe386Leu)
9g.36223474A=CA1846334559CLTA,GNEc.1403T= (p.Phe468=)
c.1133T= (p.Phe378=)
c.1310T= (p.Phe437=)
c.485+19295A= (n.485+19295A=)
c.980T= (p.Phe327=)
c.1295T= (p.Phe432=)
c.1250T= (p.Phe417=)
c.1157T= (p.Phe386=)
9g.36223474A>CCA373427942CLTA,GNEc.1403T>G (p.Phe468Cys)
c.1133T>G (p.Phe378Cys)
c.1310T>G (p.Phe437Cys)
c.485+19295A>C (n.485+19295A>C)
c.980T>G (p.Phe327Cys)
c.1295T>G (p.Phe432Cys)
c.1250T>G (p.Phe417Cys)
c.1157T>G (p.Phe386Cys)
9g.36223474A>GCA5056504CLTA,GNEc.1403T>C (p.Phe468Ser)
c.1133T>C (p.Phe378Ser)
c.1310T>C (p.Phe437Ser)
c.485+19295A>G (n.485+19295A>G)
c.980T>C (p.Phe327Ser)
c.1295T>C (p.Phe432Ser)
c.1250T>C (p.Phe417Ser)
c.1157T>C (p.Phe386Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36223474A>TCA373427945CLTA,GNEc.1403T>A (p.Phe468Tyr)
c.1133T>A (p.Phe378Tyr)
c.1310T>A (p.Phe437Tyr)
c.485+19295A>T (n.485+19295A>T)
c.980T>A (p.Phe327Tyr)
c.1295T>A (p.Phe432Tyr)
c.1250T>A (p.Phe417Tyr)
c.1157T>A (p.Phe386Tyr)
9g.36223475A>CCA373427948CLTA,GNEc.1402T>G (p.Phe468Val)
c.1132T>G (p.Phe378Val)
c.1309T>G (p.Phe437Val)
c.485+19296A>C (n.485+19296A>C)
c.979T>G (p.Phe327Val)
c.1294T>G (p.Phe432Val)
c.1249T>G (p.Phe417Val)
c.1156T>G (p.Phe386Val)
 dbSNP
9g.36223475A>GCA373427949CLTA,GNEc.1402T>C (p.Phe468Leu)
c.1132T>C (p.Phe378Leu)
c.1309T>C (p.Phe437Leu)
c.485+19296A>G (n.485+19296A>G)
c.979T>C (p.Phe327Leu)
c.1294T>C (p.Phe432Leu)
c.1249T>C (p.Phe417Leu)
c.1156T>C (p.Phe386Leu)
9g.36223475A>TCA373427950CLTA,GNEc.1402T>A (p.Phe468Ile)
c.1132T>A (p.Phe378Ile)
c.1309T>A (p.Phe437Ile)
c.485+19296A>T (n.485+19296A>T)
c.979T>A (p.Phe327Ile)
c.1294T>A (p.Phe432Ile)
c.1249T>A (p.Phe417Ile)
c.1156T>A (p.Phe386Ile)
9g.36223476C>ACA373427952CLTA,GNEc.1401G>T (p.Gln467His)
c.1131G>T (p.Gln377His)
c.1308G>T (p.Gln436His)
c.485+19297C>A (n.485+19297C>A)
c.978G>T (p.Gln326His)
c.1293G>T (p.Gln431His)
c.1248G>T (p.Gln416His)
c.1155G>T (p.Gln385His)
9g.36223476C>GCA373427951CLTA,GNEc.1401G>C (p.Gln467His)
c.1131G>C (p.Gln377His)
c.1308G>C (p.Gln436His)
c.485+19297C>G (n.485+19297C>G)
c.978G>C (p.Gln326His)
c.1293G>C (p.Gln431His)
c.1248G>C (p.Gln416His)
c.1155G>C (p.Gln385His)
9g.36223476C>TCA464495420CLTA,GNEc.1401G>A (p.Gln467=)
c.1131G>A (p.Gln377=)
c.1308G>A (p.Gln436=)
c.485+19297C>T (n.485+19297C>T)
c.978G>A (p.Gln326=)
c.1293G>A (p.Gln431=)
c.1248G>A (p.Gln416=)
c.1155G>A (p.Gln385=)
 ClinVar dbSNP
9g.36223477delCA2579338452CLTA,GNEc.1400del (p.Gln467ArgfsTer13)
c.1130del (p.Gln377ArgfsTer13)
c.1307del (p.Gln436ArgfsTer13)
c.485+19298del (n.485+19298del)
c.977del (p.Gln326ArgfsTer13)
c.1292del (p.Gln431ArgfsTer13)
c.1247del (p.Gln416ArgfsTer13)
c.1154del (p.Gln385ArgfsTer13)
9g.36223477T>ACA373427953CLTA,GNEc.1400A>T (p.Gln467Leu)
c.1130A>T (p.Gln377Leu)
c.1307A>T (p.Gln436Leu)
c.485+19298T>A (n.485+19298T>A)
c.977A>T (p.Gln326Leu)
c.1292A>T (p.Gln431Leu)
c.1247A>T (p.Gln416Leu)
c.1154A>T (p.Gln385Leu)
9g.36223477T>CCA373427954CLTA,GNEc.1400A>G (p.Gln467Arg)
c.1130A>G (p.Gln377Arg)
c.1307A>G (p.Gln436Arg)
c.485+19298T>C (n.485+19298T>C)
c.977A>G (p.Gln326Arg)
c.1292A>G (p.Gln431Arg)
c.1247A>G (p.Gln416Arg)
c.1154A>G (p.Gln385Arg)
9g.36223477T>GCA373427955CLTA,GNEc.1400A>C (p.Gln467Pro)
c.1130A>C (p.Gln377Pro)
c.1307A>C (p.Gln436Pro)
c.485+19298T>G (n.485+19298T>G)
c.977A>C (p.Gln326Pro)
c.1292A>C (p.Gln431Pro)
c.1247A>C (p.Gln416Pro)
c.1154A>C (p.Gln385Pro)
9g.36223478_36223481delCA2783550410CLTA,GNEc.1397_1400del (p.Thr466SerfsTer13)
c.1127_1130del (p.Thr376SerfsTer13)
c.1304_1307del (p.Thr435SerfsTer13)
c.485+19299_485+19302del (n.485+19299_485+19302del)
c.974_977del (p.Thr325SerfsTer13)
c.1289_1292del (p.Thr430SerfsTer13)
c.1244_1247del (p.Thr415SerfsTer13)
c.1151_1154del (p.Thr384SerfsTer13)
9g.36223478G>ACA274118CLTA,GNEc.1399C>T (p.Gln467Ter)
c.1129C>T (p.Gln377Ter)
c.1306C>T (p.Gln436Ter)
c.485+19299G>A (n.485+19299G>A)
c.976C>T (p.Gln326Ter)
c.1291C>T (p.Gln431Ter)
c.1246C>T (p.Gln416Ter)
c.1153C>T (p.Gln385Ter)
 ClinVar dbSNP gnomAD v2
9g.36223478G>CCA373427957CLTA,GNEc.1399C>G (p.Gln467Glu)
c.1129C>G (p.Gln377Glu)
c.1306C>G (p.Gln436Glu)
c.485+19299G>C (n.485+19299G>C)
c.976C>G (p.Gln326Glu)
c.1291C>G (p.Gln431Glu)
c.1246C>G (p.Gln416Glu)
c.1153C>G (p.Gln385Glu)
9g.36223478G=CA1846334564CLTA,GNEc.1399C= (p.Gln467=)
c.1129C= (p.Gln377=)
c.1306C= (p.Gln436=)
c.485+19299G= (n.485+19299G=)
c.976C= (p.Gln326=)
c.1291C= (p.Gln431=)
c.1246C= (p.Gln416=)
c.1153C= (p.Gln385=)
9g.36223478G>TCA373427958CLTA,GNEc.1399C>A (p.Gln467Lys)
c.1129C>A (p.Gln377Lys)
c.1306C>A (p.Gln436Lys)
c.485+19299G>T (n.485+19299G>T)
c.976C>A (p.Gln326Lys)
c.1291C>A (p.Gln431Lys)
c.1246C>A (p.Gln416Lys)
c.1153C>A (p.Gln385Lys)
9g.36223479delCA2580080535CLTA,GNEc.1398del (p.Gln467SerfsTer13)
c.1128del (p.Gln377SerfsTer13)
c.1305del (p.Gln436SerfsTer13)
c.485+19300del (n.485+19300del)
c.975del (p.Gln326SerfsTer13)
c.1290del (p.Gln431SerfsTer13)
c.1245del (p.Gln416SerfsTer13)
c.1152del (p.Gln385SerfsTer13)
 ClinVar
9g.36223479A>CCA464495423CLTA,GNEc.1398T>G (p.Thr466=)
c.1128T>G (p.Thr376=)
c.1305T>G (p.Thr435=)
c.485+19300A>C (n.485+19300A>C)
c.975T>G (p.Thr325=)
c.1290T>G (p.Thr430=)
c.1245T>G (p.Thr415=)
c.1152T>G (p.Thr384=)
9g.36223479A>GCA464495424CLTA,GNEc.1398T>C (p.Thr466=)
c.1128T>C (p.Thr376=)
c.1305T>C (p.Thr435=)
c.485+19300A>G (n.485+19300A>G)
c.975T>C (p.Thr325=)
c.1290T>C (p.Thr430=)
c.1245T>C (p.Thr415=)
c.1152T>C (p.Thr384=)
9g.36223479A>TCA464495425CLTA,GNEc.1398T>A (p.Thr466=)
c.1128T>A (p.Thr376=)
c.1305T>A (p.Thr435=)
c.485+19300A>T (n.485+19300A>T)
c.975T>A (p.Thr325=)
c.1290T>A (p.Thr430=)
c.1245T>A (p.Thr415=)
c.1152T>A (p.Thr384=)

Number of alleles fetched