Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.86716415_86716438dupCA136497LDB3n.515-2312_515-2289dup
c.1131_1154dup (p.Ser385_Pro386insProAlaProAlaTyrThrProSer)
c.1179_1202dup (p.Ser401_Pro402insProAlaProAlaTyrThrProSer)
c.1320_1343dup (p.Ser448_Pro449insProAlaProAlaTyrThrProSer)
c.990_1013dup (p.Ser338_Pro339insProAlaProAlaTyrThrProSer)
c.1335_1358dup (p.Ser453_Pro454insProAlaProAlaTyrThrProSer)
c.1572_1595dup (p.Ser532_Pro533insProAlaProAlaTyrThrProSer)
c.1524_1547dup (p.Ser516_Pro517insProAlaProAlaTyrThrProSer)
c.1383_1406dup (p.Ser469_Pro470insProAlaProAlaTyrThrProSer)
c.1368_1391dup (p.Ser464_Pro465insProAlaProAlaTyrThrProSer)
c.1227_1250dup (p.Ser417_Pro418insProAlaProAlaTyrThrProSer)
c.1038_1061dup (p.Ser354_Pro355insProAlaProAlaTyrThrProSer)
c.1023_1046dup (p.Ser349_Pro350insProAlaProAlaTyrThrProSer)
c.528_551dup (p.Ser184_Pro185insProAlaProAlaTyrThrProSer)
c.339_362dup (p.Ser121_Pro122insProAlaProAlaTyrThrProSer)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716415_86716438delCA136494LDB3n.515-2312_515-2289del
c.1131_1154del (p.Pro378_Ser385del)
c.1179_1202del (p.Pro394_Ser401del)
c.1320_1343del (p.Pro441_Ser448del)
c.990_1013del (p.Pro331_Ser338del)
c.1335_1358del (p.Pro446_Ser453del)
c.1572_1595del (p.Pro525_Ser532del)
c.1524_1547del (p.Pro509_Ser516del)
c.1383_1406del (p.Pro462_Ser469del)
c.1368_1391del (p.Pro457_Ser464del)
c.1227_1250del (p.Pro410_Ser417del)
c.1038_1061del (p.Pro347_Ser354del)
c.1023_1046del (p.Pro342_Ser349del)
c.528_551del (p.Pro177_Ser184del)
c.339_362del (p.Pro114_Ser121del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716391_86716438delCA5585111LDB3n.515-2336_515-2289del
c.1107_1154del (p.Pro370_Ser385del)
c.1155_1202del (p.Pro386_Ser401del)
c.1296_1343del (p.Pro433_Ser448del)
c.966_1013del (p.Pro323_Ser338del)
c.1311_1358del (p.Pro438_Ser453del)
c.1548_1595del (p.Pro517_Ser532del)
c.1500_1547del (p.Pro501_Ser516del)
c.1359_1406del (p.Pro454_Ser469del)
c.1344_1391del (p.Pro449_Ser464del)
c.1203_1250del (p.Pro402_Ser417del)
c.1014_1061del (p.Pro339_Ser354del)
c.999_1046del (p.Pro334_Ser349del)
c.504_551del (p.Pro169_Ser184del)
c.315_362del (p.Pro106_Ser121del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716420_86716443delCA2588946897LDB3n.515-2307_515-2284del
c.1136_1159del (p.Ala379_Pro386del)
c.1184_1207del (p.Ala395_Pro402del)
c.1325_1348del (p.Ala442_Pro449del)
c.995_1018del (p.Ala332_Pro339del)
c.1340_1363del (p.Ala447_Pro454del)
c.1577_1600del (p.Ala526_Pro533del)
c.1529_1552del (p.Ala510_Pro517del)
c.1388_1411del (p.Ala463_Pro470del)
c.1373_1396del (p.Ala458_Pro465del)
c.1232_1255del (p.Ala411_Pro418del)
c.1043_1066del (p.Ala348_Pro355del)
c.1028_1051del (p.Ala343_Pro350del)
c.533_556del (p.Ala178_Pro185del)
c.344_367del (p.Ala115_Pro122del)
 gnomAD v3 gnomAD v4
10g.86716433_86716456delCA2609997531LDB3n.515-2294_515-2271del
c.1149_1172del (p.Pro384_Thr391del)
c.1197_1220del (p.Pro400_Thr407del)
c.1338_1361del (p.Pro447_Thr454del)
c.1008_1031del (p.Pro337_Thr344del)
c.1353_1376del (p.Pro452_Thr459del)
c.1590_1613del (p.Pro531_Thr538del)
c.1542_1565del (p.Pro515_Thr522del)
c.1401_1424del (p.Pro468_Thr475del)
c.1386_1409del (p.Pro463_Thr470del)
c.1245_1268del (p.Pro416_Thr423del)
c.1056_1079del (p.Pro353_Thr360del)
c.1041_1064del (p.Pro348_Thr355del)
c.546_569del (p.Pro183_Thr190del)
c.357_380del (p.Pro120_Thr127del)
 gnomAD v4
10g.86716436delCA470374917LDB3n.515-2291del
c.1152del (p.Ser385HisfsTer?)
c.1200del (p.Ser401HisfsTer?)
c.1341del (p.Ser448HisfsTer?)
c.1011del (p.Ser338HisfsTer?)
c.1356del (p.Ser453HisfsTer?)
c.1593del (p.Ser532HisfsTer?)
c.1545del (p.Ser516HisfsTer?)
c.1404del (p.Ser469HisfsTer?)
c.1389del (p.Ser464HisfsTer?)
c.1248del (p.Ser417HisfsTer?)
c.1059del (p.Ser354HisfsTer?)
c.1044del (p.Ser349HisfsTer?)
c.549del (p.Ser184HisfsTer?)
c.360del (p.Ser121HisfsTer?)
 COSMIC COSMIC COSMIC
10g.86716434C>ACA377449964LDB3n.515-2293C>A
c.1150C>A (p.Pro384Thr)
c.1198C>A (p.Pro400Thr)
c.1339C>A (p.Pro447Thr)
c.1009C>A (p.Pro337Thr)
c.1354C>A (p.Pro452Thr)
c.1591C>A (p.Pro531Thr)
c.1543C>A (p.Pro515Thr)
c.1402C>A (p.Pro468Thr)
c.1387C>A (p.Pro463Thr)
c.1246C>A (p.Pro416Thr)
c.1057C>A (p.Pro353Thr)
c.1042C>A (p.Pro348Thr)
c.547C>A (p.Pro183Thr)
c.358C>A (p.Pro120Thr)
 gnomAD v4
10g.86716434C=CA1925631857LDB3n.515-2293C=
c.1150C= (p.Pro384=)
c.1198C= (p.Pro400=)
c.1339C= (p.Pro447=)
c.1009C= (p.Pro337=)
c.1354C= (p.Pro452=)
c.1591C= (p.Pro531=)
c.1543C= (p.Pro515=)
c.1402C= (p.Pro468=)
c.1387C= (p.Pro463=)
c.1246C= (p.Pro416=)
c.1057C= (p.Pro353=)
c.1042C= (p.Pro348=)
c.547C= (p.Pro183=)
c.358C= (p.Pro120=)
10g.86716434C>GCA136500LDB3n.515-2293C>G
c.1150C>G (p.Pro384Ala)
c.1198C>G (p.Pro400Ala)
c.1339C>G (p.Pro447Ala)
c.1009C>G (p.Pro337Ala)
c.1354C>G (p.Pro452Ala)
c.1591C>G (p.Pro531Ala)
c.1543C>G (p.Pro515Ala)
c.1402C>G (p.Pro468Ala)
c.1387C>G (p.Pro463Ala)
c.1246C>G (p.Pro416Ala)
c.1057C>G (p.Pro353Ala)
c.1042C>G (p.Pro348Ala)
c.547C>G (p.Pro183Ala)
c.358C>G (p.Pro120Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716434C>TCA377449961LDB3n.515-2293C>T
c.1150C>T (p.Pro384Ser)
c.1198C>T (p.Pro400Ser)
c.1339C>T (p.Pro447Ser)
c.1009C>T (p.Pro337Ser)
c.1354C>T (p.Pro452Ser)
c.1591C>T (p.Pro531Ser)
c.1543C>T (p.Pro515Ser)
c.1402C>T (p.Pro468Ser)
c.1387C>T (p.Pro463Ser)
c.1246C>T (p.Pro416Ser)
c.1057C>T (p.Pro353Ser)
c.1042C>T (p.Pro348Ser)
c.547C>T (p.Pro183Ser)
c.358C>T (p.Pro120Ser)
10g.86716435C>ACA377449965LDB3n.515-2292C>A
c.1151C>A (p.Pro384His)
c.1199C>A (p.Pro400His)
c.1340C>A (p.Pro447His)
c.1010C>A (p.Pro337His)
c.1355C>A (p.Pro452His)
c.1592C>A (p.Pro531His)
c.1544C>A (p.Pro515His)
c.1403C>A (p.Pro468His)
c.1388C>A (p.Pro463His)
c.1247C>A (p.Pro416His)
c.1058C>A (p.Pro353His)
c.1043C>A (p.Pro348His)
c.548C>A (p.Pro183His)
c.359C>A (p.Pro120His)
 gnomAD v4
10g.86716435C>GCA377449968LDB3n.515-2292C>G
c.1151C>G (p.Pro384Arg)
c.1199C>G (p.Pro400Arg)
c.1340C>G (p.Pro447Arg)
c.1010C>G (p.Pro337Arg)
c.1355C>G (p.Pro452Arg)
c.1592C>G (p.Pro531Arg)
c.1544C>G (p.Pro515Arg)
c.1403C>G (p.Pro468Arg)
c.1388C>G (p.Pro463Arg)
c.1247C>G (p.Pro416Arg)
c.1058C>G (p.Pro353Arg)
c.1043C>G (p.Pro348Arg)
c.548C>G (p.Pro183Arg)
c.359C>G (p.Pro120Arg)
10g.86716435C>TCA377449969LDB3n.515-2292C>T
c.1151C>T (p.Pro384Leu)
c.1199C>T (p.Pro400Leu)
c.1340C>T (p.Pro447Leu)
c.1010C>T (p.Pro337Leu)
c.1355C>T (p.Pro452Leu)
c.1592C>T (p.Pro531Leu)
c.1544C>T (p.Pro515Leu)
c.1403C>T (p.Pro468Leu)
c.1388C>T (p.Pro463Leu)
c.1247C>T (p.Pro416Leu)
c.1058C>T (p.Pro353Leu)
c.1043C>T (p.Pro348Leu)
c.548C>T (p.Pro183Leu)
c.359C>T (p.Pro120Leu)
 gnomAD v4
10g.86716436C>ACA470374935LDB3n.515-2291C>A
c.1152C>A (p.Pro384=)
c.1200C>A (p.Pro400=)
c.1341C>A (p.Pro447=)
c.1011C>A (p.Pro337=)
c.1356C>A (p.Pro452=)
c.1593C>A (p.Pro531=)
c.1545C>A (p.Pro515=)
c.1404C>A (p.Pro468=)
c.1389C>A (p.Pro463=)
c.1248C>A (p.Pro416=)
c.1059C>A (p.Pro353=)
c.1044C>A (p.Pro348=)
c.549C>A (p.Pro183=)
c.360C>A (p.Pro120=)
10g.86716436C>GCA470374937LDB3n.515-2291C>G
c.1152C>G (p.Pro384=)
c.1200C>G (p.Pro400=)
c.1341C>G (p.Pro447=)
c.1011C>G (p.Pro337=)
c.1356C>G (p.Pro452=)
c.1593C>G (p.Pro531=)
c.1545C>G (p.Pro515=)
c.1404C>G (p.Pro468=)
c.1389C>G (p.Pro463=)
c.1248C>G (p.Pro416=)
c.1059C>G (p.Pro353=)
c.1044C>G (p.Pro348=)
c.549C>G (p.Pro183=)
c.360C>G (p.Pro120=)
 ClinVar
10g.86716436C>TCA470374939LDB3n.515-2291C>T
c.1152C>T (p.Pro384=)
c.1200C>T (p.Pro400=)
c.1341C>T (p.Pro447=)
c.1011C>T (p.Pro337=)
c.1356C>T (p.Pro452=)
c.1593C>T (p.Pro531=)
c.1545C>T (p.Pro515=)
c.1404C>T (p.Pro468=)
c.1389C>T (p.Pro463=)
c.1248C>T (p.Pro416=)
c.1059C>T (p.Pro353=)
c.1044C>T (p.Pro348=)
c.549C>T (p.Pro183=)
c.360C>T (p.Pro120=)
10g.86716437T>ACA377449972LDB3n.515-2290T>A
c.1153T>A (p.Ser385Thr)
c.1201T>A (p.Ser401Thr)
c.1342T>A (p.Ser448Thr)
c.1012T>A (p.Ser338Thr)
c.1357T>A (p.Ser453Thr)
c.1594T>A (p.Ser532Thr)
c.1546T>A (p.Ser516Thr)
c.1405T>A (p.Ser469Thr)
c.1390T>A (p.Ser464Thr)
c.1249T>A (p.Ser417Thr)
c.1060T>A (p.Ser354Thr)
c.1045T>A (p.Ser349Thr)
c.550T>A (p.Ser184Thr)
c.361T>A (p.Ser121Thr)
10g.86716437T>CCA377449973LDB3n.515-2290T>C
c.1153T>C (p.Ser385Pro)
c.1201T>C (p.Ser401Pro)
c.1342T>C (p.Ser448Pro)
c.1012T>C (p.Ser338Pro)
c.1357T>C (p.Ser453Pro)
c.1594T>C (p.Ser532Pro)
c.1546T>C (p.Ser516Pro)
c.1405T>C (p.Ser469Pro)
c.1390T>C (p.Ser464Pro)
c.1249T>C (p.Ser417Pro)
c.1060T>C (p.Ser354Pro)
c.1045T>C (p.Ser349Pro)
c.550T>C (p.Ser184Pro)
c.361T>C (p.Ser121Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716437T>GCA377449977LDB3n.515-2290T>G
c.1153T>G (p.Ser385Ala)
c.1201T>G (p.Ser401Ala)
c.1342T>G (p.Ser448Ala)
c.1012T>G (p.Ser338Ala)
c.1357T>G (p.Ser453Ala)
c.1594T>G (p.Ser532Ala)
c.1546T>G (p.Ser516Ala)
c.1405T>G (p.Ser469Ala)
c.1390T>G (p.Ser464Ala)
c.1249T>G (p.Ser417Ala)
c.1060T>G (p.Ser354Ala)
c.1045T>G (p.Ser349Ala)
c.550T>G (p.Ser184Ala)
c.361T>G (p.Ser121Ala)
10g.86716437T=CA1925631858LDB3n.515-2290T=
c.1153T= (p.Ser385=)
c.1201T= (p.Ser401=)
c.1342T= (p.Ser448=)
c.1012T= (p.Ser338=)
c.1357T= (p.Ser453=)
c.1594T= (p.Ser532=)
c.1546T= (p.Ser516=)
c.1405T= (p.Ser469=)
c.1390T= (p.Ser464=)
c.1249T= (p.Ser417=)
c.1060T= (p.Ser354=)
c.1045T= (p.Ser349=)
c.550T= (p.Ser184=)
c.361T= (p.Ser121=)
10g.86716438delCA2574457086LDB3n.515-2289del
c.1154del (p.Ser385TyrfsTer?)
c.1202del (p.Ser401TyrfsTer?)
c.1343del (p.Ser448TyrfsTer?)
c.1013del (p.Ser338TyrfsTer?)
c.1358del (p.Ser453TyrfsTer?)
c.1595del (p.Ser532TyrfsTer?)
c.1547del (p.Ser516TyrfsTer?)
c.1406del (p.Ser469TyrfsTer?)
c.1391del (p.Ser464TyrfsTer?)
c.1250del (p.Ser417TyrfsTer?)
c.1061del (p.Ser354TyrfsTer?)
c.1046del (p.Ser349TyrfsTer?)
c.551del (p.Ser184TyrfsTer?)
c.362del (p.Ser121TyrfsTer?)
 ClinVar
10g.86716438C>ACA377449978LDB3n.515-2289C>A
c.1154C>A (p.Ser385Ter)
c.1202C>A (p.Ser401Ter)
c.1343C>A (p.Ser448Ter)
c.1013C>A (p.Ser338Ter)
c.1358C>A (p.Ser453Ter)
c.1595C>A (p.Ser532Ter)
c.1547C>A (p.Ser516Ter)
c.1406C>A (p.Ser469Ter)
c.1391C>A (p.Ser464Ter)
c.1250C>A (p.Ser417Ter)
c.1061C>A (p.Ser354Ter)
c.1046C>A (p.Ser349Ter)
c.551C>A (p.Ser184Ter)
c.362C>A (p.Ser121Ter)
10g.86716438C=CA1925631859LDB3n.515-2289C=
c.1154C= (p.Ser385=)
c.1202C= (p.Ser401=)
c.1343C= (p.Ser448=)
c.1013C= (p.Ser338=)
c.1358C= (p.Ser453=)
c.1595C= (p.Ser532=)
c.1547C= (p.Ser516=)
c.1406C= (p.Ser469=)
c.1391C= (p.Ser464=)
c.1250C= (p.Ser417=)
c.1061C= (p.Ser354=)
c.1046C= (p.Ser349=)
c.551C= (p.Ser184=)
c.362C= (p.Ser121=)
10g.86716438C>GCA377449980LDB3n.515-2289C>G
c.1154C>G (p.Ser385Ter)
c.1202C>G (p.Ser401Ter)
c.1343C>G (p.Ser448Ter)
c.1013C>G (p.Ser338Ter)
c.1358C>G (p.Ser453Ter)
c.1595C>G (p.Ser532Ter)
c.1547C>G (p.Ser516Ter)
c.1406C>G (p.Ser469Ter)
c.1391C>G (p.Ser464Ter)
c.1250C>G (p.Ser417Ter)
c.1061C>G (p.Ser354Ter)
c.1046C>G (p.Ser349Ter)
c.551C>G (p.Ser184Ter)
c.362C>G (p.Ser121Ter)
10g.86716438C>TCA377449984LDB3n.515-2289C>T
c.1154C>T (p.Ser385Leu)
c.1202C>T (p.Ser401Leu)
c.1343C>T (p.Ser448Leu)
c.1013C>T (p.Ser338Leu)
c.1358C>T (p.Ser453Leu)
c.1595C>T (p.Ser532Leu)
c.1547C>T (p.Ser516Leu)
c.1406C>T (p.Ser469Leu)
c.1391C>T (p.Ser464Leu)
c.1250C>T (p.Ser417Leu)
c.1061C>T (p.Ser354Leu)
c.1046C>T (p.Ser349Leu)
c.551C>T (p.Ser184Leu)
c.362C>T (p.Ser121Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716439A=CA1925631860LDB3n.515-2288A=
c.1155A= (p.Ser385=)
c.1203A= (p.Ser401=)
c.1344A= (p.Ser448=)
c.1014A= (p.Ser338=)
c.1359A= (p.Ser453=)
c.1596A= (p.Ser532=)
c.1548A= (p.Ser516=)
c.1407A= (p.Ser469=)
c.1392A= (p.Ser464=)
c.1251A= (p.Ser417=)
c.1062A= (p.Ser354=)
c.1047A= (p.Ser349=)
c.552A= (p.Ser184=)
c.363A= (p.Ser121=)
10g.86716439A>CCA470374953LDB3n.515-2288A>C
c.1155A>C (p.Ser385=)
c.1203A>C (p.Ser401=)
c.1344A>C (p.Ser448=)
c.1014A>C (p.Ser338=)
c.1359A>C (p.Ser453=)
c.1596A>C (p.Ser532=)
c.1548A>C (p.Ser516=)
c.1407A>C (p.Ser469=)
c.1392A>C (p.Ser464=)
c.1251A>C (p.Ser417=)
c.1062A>C (p.Ser354=)
c.1047A>C (p.Ser349=)
c.552A>C (p.Ser184=)
c.363A>C (p.Ser121=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716439A>GCA470374956LDB3n.515-2288A>G
c.1155A>G (p.Ser385=)
c.1203A>G (p.Ser401=)
c.1344A>G (p.Ser448=)
c.1014A>G (p.Ser338=)
c.1359A>G (p.Ser453=)
c.1596A>G (p.Ser532=)
c.1548A>G (p.Ser516=)
c.1407A>G (p.Ser469=)
c.1392A>G (p.Ser464=)
c.1251A>G (p.Ser417=)
c.1062A>G (p.Ser354=)
c.1047A>G (p.Ser349=)
c.552A>G (p.Ser184=)
c.363A>G (p.Ser121=)
10g.86716439A>TCA470374958LDB3n.515-2288A>T
c.1155A>T (p.Ser385=)
c.1203A>T (p.Ser401=)
c.1344A>T (p.Ser448=)
c.1014A>T (p.Ser338=)
c.1359A>T (p.Ser453=)
c.1596A>T (p.Ser532=)
c.1548A>T (p.Ser516=)
c.1407A>T (p.Ser469=)
c.1392A>T (p.Ser464=)
c.1251A>T (p.Ser417=)
c.1062A>T (p.Ser354=)
c.1047A>T (p.Ser349=)
c.552A>T (p.Ser184=)
c.363A>T (p.Ser121=)
 gnomAD v4
10g.86716440C>ACA377449987LDB3n.515-2287C>A
c.1156C>A (p.Pro386Thr)
c.1204C>A (p.Pro402Thr)
c.1345C>A (p.Pro449Thr)
c.1015C>A (p.Pro339Thr)
c.1360C>A (p.Pro454Thr)
c.1597C>A (p.Pro533Thr)
c.1549C>A (p.Pro517Thr)
c.1408C>A (p.Pro470Thr)
c.1393C>A (p.Pro465Thr)
c.1252C>A (p.Pro418Thr)
c.1063C>A (p.Pro355Thr)
c.1048C>A (p.Pro350Thr)
c.553C>A (p.Pro185Thr)
c.364C>A (p.Pro122Thr)
10g.86716440C=CA1925631861LDB3n.515-2287C=
c.1156C= (p.Pro386=)
c.1204C= (p.Pro402=)
c.1345C= (p.Pro449=)
c.1015C= (p.Pro339=)
c.1360C= (p.Pro454=)
c.1597C= (p.Pro533=)
c.1549C= (p.Pro517=)
c.1408C= (p.Pro470=)
c.1393C= (p.Pro465=)
c.1252C= (p.Pro418=)
c.1063C= (p.Pro355=)
c.1048C= (p.Pro350=)
c.553C= (p.Pro185=)
c.364C= (p.Pro122=)
10g.86716440C>GCA377449989LDB3n.515-2287C>G
c.1156C>G (p.Pro386Ala)
c.1204C>G (p.Pro402Ala)
c.1345C>G (p.Pro449Ala)
c.1015C>G (p.Pro339Ala)
c.1360C>G (p.Pro454Ala)
c.1597C>G (p.Pro533Ala)
c.1549C>G (p.Pro517Ala)
c.1408C>G (p.Pro470Ala)
c.1393C>G (p.Pro465Ala)
c.1252C>G (p.Pro418Ala)
c.1063C>G (p.Pro355Ala)
c.1048C>G (p.Pro350Ala)
c.553C>G (p.Pro185Ala)
c.364C>G (p.Pro122Ala)
10g.86716440C>TCA377449991LDB3n.515-2287C>T
c.1156C>T (p.Pro386Ser)
c.1204C>T (p.Pro402Ser)
c.1345C>T (p.Pro449Ser)
c.1015C>T (p.Pro339Ser)
c.1360C>T (p.Pro454Ser)
c.1597C>T (p.Pro533Ser)
c.1549C>T (p.Pro517Ser)
c.1408C>T (p.Pro470Ser)
c.1393C>T (p.Pro465Ser)
c.1252C>T (p.Pro418Ser)
c.1063C>T (p.Pro355Ser)
c.1048C>T (p.Pro350Ser)
c.553C>T (p.Pro185Ser)
c.364C>T (p.Pro122Ser)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
10g.86716441C>ACA377450006LDB3n.515-2286C>A
c.1157C>A (p.Pro386His)
c.1205C>A (p.Pro402His)
c.1346C>A (p.Pro449His)
c.1016C>A (p.Pro339His)
c.1361C>A (p.Pro454His)
c.1598C>A (p.Pro533His)
c.1550C>A (p.Pro517His)
c.1409C>A (p.Pro470His)
c.1394C>A (p.Pro465His)
c.1253C>A (p.Pro418His)
c.1064C>A (p.Pro355His)
c.1049C>A (p.Pro350His)
c.554C>A (p.Pro185His)
c.365C>A (p.Pro122His)
10g.86716441C>GCA377450004LDB3n.515-2286C>G
c.1157C>G (p.Pro386Arg)
c.1205C>G (p.Pro402Arg)
c.1346C>G (p.Pro449Arg)
c.1016C>G (p.Pro339Arg)
c.1361C>G (p.Pro454Arg)
c.1598C>G (p.Pro533Arg)
c.1550C>G (p.Pro517Arg)
c.1409C>G (p.Pro470Arg)
c.1394C>G (p.Pro465Arg)
c.1253C>G (p.Pro418Arg)
c.1064C>G (p.Pro355Arg)
c.1049C>G (p.Pro350Arg)
c.554C>G (p.Pro185Arg)
c.365C>G (p.Pro122Arg)
10g.86716441C>TCA377450003LDB3n.515-2286C>T
c.1157C>T (p.Pro386Leu)
c.1205C>T (p.Pro402Leu)
c.1346C>T (p.Pro449Leu)
c.1016C>T (p.Pro339Leu)
c.1361C>T (p.Pro454Leu)
c.1598C>T (p.Pro533Leu)
c.1550C>T (p.Pro517Leu)
c.1409C>T (p.Pro470Leu)
c.1394C>T (p.Pro465Leu)
c.1253C>T (p.Pro418Leu)
c.1064C>T (p.Pro355Leu)
c.1049C>T (p.Pro350Leu)
c.554C>T (p.Pro185Leu)
c.365C>T (p.Pro122Leu)
10g.86716441_86716444delinsCTGTCA1925631862LDB3n.515-2286_515-2283delinsCTGT
c.1157_1160delinsCTGT (p.Pro386=)
c.1205_1208delinsCTGT (p.Pro402=)
c.1346_1349delinsCTGT (p.Pro449=)
c.1016_1019delinsCTGT (p.Pro339=)
c.1361_1364delinsCTGT (p.Pro454=)
c.1598_1601delinsCTGT (p.Pro533=)
c.1550_1553delinsCTGT (p.Pro517=)
c.1409_1412delinsCTGT (p.Pro470=)
c.1394_1397delinsCTGT (p.Pro465=)
c.1253_1256delinsCTGT (p.Pro418=)
c.1064_1067delinsCTGT (p.Pro355=)
c.1049_1052delinsCTGT (p.Pro350=)
c.554_557delinsCTGT (p.Pro185=)
c.365_368delinsCTGT (p.Pro122=)
10g.86716442T>ACA470374941LDB3n.515-2285T>A
c.1158T>A (p.Pro386=)
c.1206T>A (p.Pro402=)
c.1347T>A (p.Pro449=)
c.1017T>A (p.Pro339=)
c.1362T>A (p.Pro454=)
c.1599T>A (p.Pro533=)
c.1551T>A (p.Pro517=)
c.1410T>A (p.Pro470=)
c.1395T>A (p.Pro465=)
c.1254T>A (p.Pro418=)
c.1065T>A (p.Pro355=)
c.1050T>A (p.Pro350=)
c.555T>A (p.Pro185=)
c.366T>A (p.Pro122=)
10g.86716442T>CCA470374943LDB3n.515-2285T>C
c.1158T>C (p.Pro386=)
c.1206T>C (p.Pro402=)
c.1347T>C (p.Pro449=)
c.1017T>C (p.Pro339=)
c.1362T>C (p.Pro454=)
c.1599T>C (p.Pro533=)
c.1551T>C (p.Pro517=)
c.1410T>C (p.Pro470=)
c.1395T>C (p.Pro465=)
c.1254T>C (p.Pro418=)
c.1065T>C (p.Pro355=)
c.1050T>C (p.Pro350=)
c.555T>C (p.Pro185=)
c.366T>C (p.Pro122=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716442T>GCA470374944LDB3n.515-2285T>G
c.1158T>G (p.Pro386=)
c.1206T>G (p.Pro402=)
c.1347T>G (p.Pro449=)
c.1017T>G (p.Pro339=)
c.1362T>G (p.Pro454=)
c.1599T>G (p.Pro533=)
c.1551T>G (p.Pro517=)
c.1410T>G (p.Pro470=)
c.1395T>G (p.Pro465=)
c.1254T>G (p.Pro418=)
c.1065T>G (p.Pro355=)
c.1050T>G (p.Pro350=)
c.555T>G (p.Pro185=)
c.366T>G (p.Pro122=)
10g.86716442T=CA1925631863LDB3n.515-2285T=
c.1158T= (p.Pro386=)
c.1206T= (p.Pro402=)
c.1347T= (p.Pro449=)
c.1017T= (p.Pro339=)
c.1362T= (p.Pro454=)
c.1599T= (p.Pro533=)
c.1551T= (p.Pro517=)
c.1410T= (p.Pro470=)
c.1395T= (p.Pro465=)
c.1254T= (p.Pro418=)
c.1065T= (p.Pro355=)
c.1050T= (p.Pro350=)
c.555T= (p.Pro185=)
c.366T= (p.Pro122=)
10g.86716442_86716444delCA595183687LDB3n.515-2285_515-2283del
c.1158_1160del (p.Val387del)
c.1206_1208del (p.Val403del)
c.1347_1349del (p.Val450del)
c.1017_1019del (p.Val340del)
c.1362_1364del (p.Val455del)
c.1599_1601del (p.Val534del)
c.1551_1553del (p.Val518del)
c.1410_1412del (p.Val471del)
c.1395_1397del (p.Val466del)
c.1254_1256del (p.Val419del)
c.1065_1067del (p.Val356del)
c.1050_1052del (p.Val351del)
c.555_557del (p.Val186del)
c.366_368del (p.Val123del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716442_86716443insCCA1301339260LDB3n.515-2285_515-2284insC
c.1158_1159insC (p.Val387ArgfsTer21)
c.1206_1207insC (p.Val403ArgfsTer21)
c.1347_1348insC (p.Val450ArgfsTer21)
c.1017_1018insC (p.Val340ArgfsTer21)
c.1362_1363insC (p.Val455ArgfsTer21)
c.1599_1600insC (p.Val534ArgfsTer21)
c.1551_1552insC (p.Val518ArgfsTer21)
c.1410_1411insC (p.Val471ArgfsTer21)
c.1395_1396insC (p.Val466ArgfsTer21)
c.1254_1255insC (p.Val419ArgfsTer21)
c.1065_1066insC (p.Val356ArgfsTer21)
c.1050_1051insC (p.Val351ArgfsTer21)
c.555_556insC (p.Val186ArgfsTer21)
c.366_367insC (p.Val123ArgfsTer21)
10g.86716443G>ACA377450019LDB3n.515-2284G>A
c.1159G>A (p.Val387Ile)
c.1207G>A (p.Val403Ile)
c.1348G>A (p.Val450Ile)
c.1018G>A (p.Val340Ile)
c.1363G>A (p.Val455Ile)
c.1600G>A (p.Val534Ile)
c.1552G>A (p.Val518Ile)
c.1411G>A (p.Val471Ile)
c.1396G>A (p.Val466Ile)
c.1255G>A (p.Val419Ile)
c.1066G>A (p.Val356Ile)
c.1051G>A (p.Val351Ile)
c.556G>A (p.Val186Ile)
c.367G>A (p.Val123Ile)
 ClinVar
10g.86716443G>CCA377450017LDB3n.515-2284G>C
c.1159G>C (p.Val387Leu)
c.1207G>C (p.Val403Leu)
c.1348G>C (p.Val450Leu)
c.1018G>C (p.Val340Leu)
c.1363G>C (p.Val455Leu)
c.1600G>C (p.Val534Leu)
c.1552G>C (p.Val518Leu)
c.1411G>C (p.Val471Leu)
c.1396G>C (p.Val466Leu)
c.1255G>C (p.Val419Leu)
c.1066G>C (p.Val356Leu)
c.1051G>C (p.Val351Leu)
c.556G>C (p.Val186Leu)
c.367G>C (p.Val123Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716443G=CA1925631864LDB3n.515-2284G=
c.1159G= (p.Val387=)
c.1207G= (p.Val403=)
c.1348G= (p.Val450=)
c.1018G= (p.Val340=)
c.1363G= (p.Val455=)
c.1600G= (p.Val534=)
c.1552G= (p.Val518=)
c.1411G= (p.Val471=)
c.1396G= (p.Val466=)
c.1255G= (p.Val419=)
c.1066G= (p.Val356=)
c.1051G= (p.Val351=)
c.556G= (p.Val186=)
c.367G= (p.Val123=)
10g.86716443G>TCA377450018LDB3n.515-2284G>T
c.1159G>T (p.Val387Phe)
c.1207G>T (p.Val403Phe)
c.1348G>T (p.Val450Phe)
c.1018G>T (p.Val340Phe)
c.1363G>T (p.Val455Phe)
c.1600G>T (p.Val534Phe)
c.1552G>T (p.Val518Phe)
c.1411G>T (p.Val471Phe)
c.1396G>T (p.Val466Phe)
c.1255G>T (p.Val419Phe)
c.1066G>T (p.Val356Phe)
c.1051G>T (p.Val351Phe)
c.556G>T (p.Val186Phe)
c.367G>T (p.Val123Phe)
10g.86716444T>ACA377450020LDB3n.515-2283T>A
c.1160T>A (p.Val387Asp)
c.1208T>A (p.Val403Asp)
c.1349T>A (p.Val450Asp)
c.1019T>A (p.Val340Asp)
c.1364T>A (p.Val455Asp)
c.1601T>A (p.Val534Asp)
c.1553T>A (p.Val518Asp)
c.1412T>A (p.Val471Asp)
c.1397T>A (p.Val466Asp)
c.1256T>A (p.Val419Asp)
c.1067T>A (p.Val356Asp)
c.1052T>A (p.Val351Asp)
c.557T>A (p.Val186Asp)
c.368T>A (p.Val123Asp)
10g.86716444T>CCA377450021LDB3n.515-2283T>C
c.1160T>C (p.Val387Ala)
c.1208T>C (p.Val403Ala)
c.1349T>C (p.Val450Ala)
c.1019T>C (p.Val340Ala)
c.1364T>C (p.Val455Ala)
c.1601T>C (p.Val534Ala)
c.1553T>C (p.Val518Ala)
c.1412T>C (p.Val471Ala)
c.1397T>C (p.Val466Ala)
c.1256T>C (p.Val419Ala)
c.1067T>C (p.Val356Ala)
c.1052T>C (p.Val351Ala)
c.557T>C (p.Val186Ala)
c.368T>C (p.Val123Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716444T>GCA377450022LDB3n.515-2283T>G
c.1160T>G (p.Val387Gly)
c.1208T>G (p.Val403Gly)
c.1349T>G (p.Val450Gly)
c.1019T>G (p.Val340Gly)
c.1364T>G (p.Val455Gly)
c.1601T>G (p.Val534Gly)
c.1553T>G (p.Val518Gly)
c.1412T>G (p.Val471Gly)
c.1397T>G (p.Val466Gly)
c.1256T>G (p.Val419Gly)
c.1067T>G (p.Val356Gly)
c.1052T>G (p.Val351Gly)
c.557T>G (p.Val186Gly)
c.368T>G (p.Val123Gly)
10g.86716444T=CA1925631865LDB3n.515-2283T=
c.1160T= (p.Val387=)
c.1208T= (p.Val403=)
c.1349T= (p.Val450=)
c.1019T= (p.Val340=)
c.1364T= (p.Val455=)
c.1601T= (p.Val534=)
c.1553T= (p.Val518=)
c.1412T= (p.Val471=)
c.1397T= (p.Val466=)
c.1256T= (p.Val419=)
c.1067T= (p.Val356=)
c.1052T= (p.Val351=)
c.557T= (p.Val186=)
c.368T= (p.Val123=)
10g.86716445C>ACA470374954LDB3n.515-2282C>A
c.1161C>A (p.Val387=)
c.1209C>A (p.Val403=)
c.1350C>A (p.Val450=)
c.1020C>A (p.Val340=)
c.1365C>A (p.Val455=)
c.1602C>A (p.Val534=)
c.1554C>A (p.Val518=)
c.1413C>A (p.Val471=)
c.1398C>A (p.Val466=)
c.1257C>A (p.Val419=)
c.1068C>A (p.Val356=)
c.1053C>A (p.Val351=)
c.558C>A (p.Val186=)
c.369C>A (p.Val123=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716445C=CA1925631866LDB3n.515-2282C=
c.1161C= (p.Val387=)
c.1209C= (p.Val403=)
c.1350C= (p.Val450=)
c.1020C= (p.Val340=)
c.1365C= (p.Val455=)
c.1602C= (p.Val534=)
c.1554C= (p.Val518=)
c.1413C= (p.Val471=)
c.1398C= (p.Val466=)
c.1257C= (p.Val419=)
c.1068C= (p.Val356=)
c.1053C= (p.Val351=)
c.558C= (p.Val186=)
c.369C= (p.Val123=)
10g.86716445C>GCA470374959LDB3n.515-2282C>G
c.1161C>G (p.Val387=)
c.1209C>G (p.Val403=)
c.1350C>G (p.Val450=)
c.1020C>G (p.Val340=)
c.1365C>G (p.Val455=)
c.1602C>G (p.Val534=)
c.1554C>G (p.Val518=)
c.1413C>G (p.Val471=)
c.1398C>G (p.Val466=)
c.1257C>G (p.Val419=)
c.1068C>G (p.Val356=)
c.1053C>G (p.Val351=)
c.558C>G (p.Val186=)
c.369C>G (p.Val123=)
10g.86716445C>TCA470374957LDB3n.515-2282C>T
c.1161C>T (p.Val387=)
c.1209C>T (p.Val403=)
c.1350C>T (p.Val450=)
c.1020C>T (p.Val340=)
c.1365C>T (p.Val455=)
c.1602C>T (p.Val534=)
c.1554C>T (p.Val518=)
c.1413C>T (p.Val471=)
c.1398C>T (p.Val466=)
c.1257C>T (p.Val419=)
c.1068C>T (p.Val356=)
c.1053C>T (p.Val351=)
c.558C>T (p.Val186=)
c.369C>T (p.Val123=)
10g.86716448delCA2573053323LDB3n.515-2279del
c.1164del (p.Thr389ProfsTer?)
c.1212del (p.Thr405ProfsTer?)
c.1353del (p.Thr452ProfsTer?)
c.1023del (p.Thr342ProfsTer?)
c.1368del (p.Thr457ProfsTer?)
c.1605del (p.Thr536ProfsTer?)
c.1557del (p.Thr520ProfsTer?)
c.1416del (p.Thr473ProfsTer?)
c.1401del (p.Thr468ProfsTer?)
c.1260del (p.Thr421ProfsTer?)
c.1071del (p.Thr358ProfsTer?)
c.1056del (p.Thr353ProfsTer?)
c.561del (p.Thr188ProfsTer?)
c.372del (p.Thr125ProfsTer?)
 ClinVar dbSNP
10g.86716446C>ACA377450030LDB3n.515-2281C>A
c.1162C>A (p.Pro388Thr)
c.1210C>A (p.Pro404Thr)
c.1351C>A (p.Pro451Thr)
c.1021C>A (p.Pro341Thr)
c.1366C>A (p.Pro456Thr)
c.1603C>A (p.Pro535Thr)
c.1555C>A (p.Pro519Thr)
c.1414C>A (p.Pro472Thr)
c.1399C>A (p.Pro467Thr)
c.1258C>A (p.Pro420Thr)
c.1069C>A (p.Pro357Thr)
c.1054C>A (p.Pro352Thr)
c.559C>A (p.Pro187Thr)
c.370C>A (p.Pro124Thr)
10g.86716446C=CA1925631867LDB3n.515-2281C=
c.1162C= (p.Pro388=)
c.1210C= (p.Pro404=)
c.1351C= (p.Pro451=)
c.1021C= (p.Pro341=)
c.1366C= (p.Pro456=)
c.1603C= (p.Pro535=)
c.1555C= (p.Pro519=)
c.1414C= (p.Pro472=)
c.1399C= (p.Pro467=)
c.1258C= (p.Pro420=)
c.1069C= (p.Pro357=)
c.1054C= (p.Pro352=)
c.559C= (p.Pro187=)
c.370C= (p.Pro124=)
10g.86716446C>GCA377450026LDB3n.515-2281C>G
c.1162C>G (p.Pro388Ala)
c.1210C>G (p.Pro404Ala)
c.1351C>G (p.Pro451Ala)
c.1021C>G (p.Pro341Ala)
c.1366C>G (p.Pro456Ala)
c.1603C>G (p.Pro535Ala)
c.1555C>G (p.Pro519Ala)
c.1414C>G (p.Pro472Ala)
c.1399C>G (p.Pro467Ala)
c.1258C>G (p.Pro420Ala)
c.1069C>G (p.Pro357Ala)
c.1054C>G (p.Pro352Ala)
c.559C>G (p.Pro187Ala)
c.370C>G (p.Pro124Ala)
 ClinVar dbSNP
10g.86716446C>TCA377450024LDB3n.515-2281C>T
c.1162C>T (p.Pro388Ser)
c.1210C>T (p.Pro404Ser)
c.1351C>T (p.Pro451Ser)
c.1021C>T (p.Pro341Ser)
c.1366C>T (p.Pro456Ser)
c.1603C>T (p.Pro535Ser)
c.1555C>T (p.Pro519Ser)
c.1414C>T (p.Pro472Ser)
c.1399C>T (p.Pro467Ser)
c.1258C>T (p.Pro420Ser)
c.1069C>T (p.Pro357Ser)
c.1054C>T (p.Pro352Ser)
c.559C>T (p.Pro187Ser)
c.370C>T (p.Pro124Ser)
 gnomAD v4
10g.86716447C>ACA377450034LDB3n.515-2280C>A
c.1163C>A (p.Pro388His)
c.1211C>A (p.Pro404His)
c.1352C>A (p.Pro451His)
c.1022C>A (p.Pro341His)
c.1367C>A (p.Pro456His)
c.1604C>A (p.Pro535His)
c.1556C>A (p.Pro519His)
c.1415C>A (p.Pro472His)
c.1400C>A (p.Pro467His)
c.1259C>A (p.Pro420His)
c.1070C>A (p.Pro357His)
c.1055C>A (p.Pro352His)
c.560C>A (p.Pro187His)
c.371C>A (p.Pro124His)
10g.86716447C>GCA377450037LDB3n.515-2280C>G
c.1163C>G (p.Pro388Arg)
c.1211C>G (p.Pro404Arg)
c.1352C>G (p.Pro451Arg)
c.1022C>G (p.Pro341Arg)
c.1367C>G (p.Pro456Arg)
c.1604C>G (p.Pro535Arg)
c.1556C>G (p.Pro519Arg)
c.1415C>G (p.Pro472Arg)
c.1400C>G (p.Pro467Arg)
c.1259C>G (p.Pro420Arg)
c.1070C>G (p.Pro357Arg)
c.1055C>G (p.Pro352Arg)
c.560C>G (p.Pro187Arg)
c.371C>G (p.Pro124Arg)
10g.86716447C>TCA377450041LDB3n.515-2280C>T
c.1163C>T (p.Pro388Leu)
c.1211C>T (p.Pro404Leu)
c.1352C>T (p.Pro451Leu)
c.1022C>T (p.Pro341Leu)
c.1367C>T (p.Pro456Leu)
c.1604C>T (p.Pro535Leu)
c.1556C>T (p.Pro519Leu)
c.1415C>T (p.Pro472Leu)
c.1400C>T (p.Pro467Leu)
c.1259C>T (p.Pro420Leu)
c.1070C>T (p.Pro357Leu)
c.1055C>T (p.Pro352Leu)
c.560C>T (p.Pro187Leu)
c.371C>T (p.Pro124Leu)
 gnomAD v4
10g.86716448C>ACA470374968LDB3n.515-2279C>A
c.1164C>A (p.Pro388=)
c.1212C>A (p.Pro404=)
c.1353C>A (p.Pro451=)
c.1023C>A (p.Pro341=)
c.1368C>A (p.Pro456=)
c.1605C>A (p.Pro535=)
c.1557C>A (p.Pro519=)
c.1416C>A (p.Pro472=)
c.1401C>A (p.Pro467=)
c.1260C>A (p.Pro420=)
c.1071C>A (p.Pro357=)
c.1056C>A (p.Pro352=)
c.561C>A (p.Pro187=)
c.372C>A (p.Pro124=)
 gnomAD v4
10g.86716448C>GCA470374970LDB3n.515-2279C>G
c.1164C>G (p.Pro388=)
c.1212C>G (p.Pro404=)
c.1353C>G (p.Pro451=)
c.1023C>G (p.Pro341=)
c.1368C>G (p.Pro456=)
c.1605C>G (p.Pro535=)
c.1557C>G (p.Pro519=)
c.1416C>G (p.Pro472=)
c.1401C>G (p.Pro467=)
c.1260C>G (p.Pro420=)
c.1071C>G (p.Pro357=)
c.1056C>G (p.Pro352=)
c.561C>G (p.Pro187=)
c.372C>G (p.Pro124=)
10g.86716448C>TCA470374971LDB3n.515-2279C>T
c.1164C>T (p.Pro388=)
c.1212C>T (p.Pro404=)
c.1353C>T (p.Pro451=)
c.1023C>T (p.Pro341=)
c.1368C>T (p.Pro456=)
c.1605C>T (p.Pro535=)
c.1557C>T (p.Pro519=)
c.1416C>T (p.Pro472=)
c.1401C>T (p.Pro467=)
c.1260C>T (p.Pro420=)
c.1071C>T (p.Pro357=)
c.1056C>T (p.Pro352=)
c.561C>T (p.Pro187=)
c.372C>T (p.Pro124=)
10g.86716448_86716449delinsTGCA1139661539LDB3n.515-2279_515-2278delinsTG
c.1164_1165delinsTG (p.Thr389Ala)
c.1212_1213delinsTG (p.Thr405Ala)
c.1353_1354delinsTG (p.Thr452Ala)
c.1023_1024delinsTG (p.Thr342Ala)
c.1368_1369delinsTG (p.Thr457Ala)
c.1605_1606delinsTG (p.Thr536Ala)
c.1557_1558delinsTG (p.Thr520Ala)
c.1416_1417delinsTG (p.Thr473Ala)
c.1401_1402delinsTG (p.Thr468Ala)
c.1260_1261delinsTG (p.Thr421Ala)
c.1071_1072delinsTG (p.Thr358Ala)
c.1056_1057delinsTG (p.Thr353Ala)
c.561_562delinsTG (p.Thr188Ala)
c.372_373delinsTG (p.Thr125Ala)
 ClinVar
10g.86716449A=CA1925631868LDB3n.515-2278A=
c.1165A= (p.Thr389=)
c.1213A= (p.Thr405=)
c.1354A= (p.Thr452=)
c.1024A= (p.Thr342=)
c.1369A= (p.Thr457=)
c.1606A= (p.Thr536=)
c.1558A= (p.Thr520=)
c.1417A= (p.Thr473=)
c.1402A= (p.Thr468=)
c.1261A= (p.Thr421=)
c.1072A= (p.Thr358=)
c.1057A= (p.Thr353=)
c.562A= (p.Thr188=)
c.373A= (p.Thr125=)
10g.86716449A>CCA377450059LDB3n.515-2278A>C
c.1165A>C (p.Thr389Pro)
c.1213A>C (p.Thr405Pro)
c.1354A>C (p.Thr452Pro)
c.1024A>C (p.Thr342Pro)
c.1369A>C (p.Thr457Pro)
c.1606A>C (p.Thr536Pro)
c.1558A>C (p.Thr520Pro)
c.1417A>C (p.Thr473Pro)
c.1402A>C (p.Thr468Pro)
c.1261A>C (p.Thr421Pro)
c.1072A>C (p.Thr358Pro)
c.1057A>C (p.Thr353Pro)
c.562A>C (p.Thr188Pro)
c.373A>C (p.Thr125Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716449A>GCA377450064LDB3n.515-2278A>G
c.1165A>G (p.Thr389Ala)
c.1213A>G (p.Thr405Ala)
c.1354A>G (p.Thr452Ala)
c.1024A>G (p.Thr342Ala)
c.1369A>G (p.Thr457Ala)
c.1606A>G (p.Thr536Ala)
c.1558A>G (p.Thr520Ala)
c.1417A>G (p.Thr473Ala)
c.1402A>G (p.Thr468Ala)
c.1261A>G (p.Thr421Ala)
c.1072A>G (p.Thr358Ala)
c.1057A>G (p.Thr353Ala)
c.562A>G (p.Thr188Ala)
c.373A>G (p.Thr125Ala)
 dbSNP gnomAD v3 gnomAD v4
10g.86716449A>TCA377450065LDB3n.515-2278A>T
c.1165A>T (p.Thr389Ser)
c.1213A>T (p.Thr405Ser)
c.1354A>T (p.Thr452Ser)
c.1024A>T (p.Thr342Ser)
c.1369A>T (p.Thr457Ser)
c.1606A>T (p.Thr536Ser)
c.1558A>T (p.Thr520Ser)
c.1417A>T (p.Thr473Ser)
c.1402A>T (p.Thr468Ser)
c.1261A>T (p.Thr421Ser)
c.1072A>T (p.Thr358Ser)
c.1057A>T (p.Thr353Ser)
c.562A>T (p.Thr188Ser)
c.373A>T (p.Thr125Ser)
10g.86716450C>ACA377450069LDB3n.515-2277C>A
c.1166C>A (p.Thr389Asn)
c.1214C>A (p.Thr405Asn)
c.1355C>A (p.Thr452Asn)
c.1025C>A (p.Thr342Asn)
c.1370C>A (p.Thr457Asn)
c.1607C>A (p.Thr536Asn)
c.1559C>A (p.Thr520Asn)
c.1418C>A (p.Thr473Asn)
c.1403C>A (p.Thr468Asn)
c.1262C>A (p.Thr421Asn)
c.1073C>A (p.Thr358Asn)
c.1058C>A (p.Thr353Asn)
c.563C>A (p.Thr188Asn)
c.374C>A (p.Thr125Asn)
 ClinVar dbSNP
10g.86716450C=CA1925631870LDB3n.515-2277C=
c.1166C= (p.Thr389=)
c.1214C= (p.Thr405=)
c.1355C= (p.Thr452=)
c.1025C= (p.Thr342=)
c.1370C= (p.Thr457=)
c.1607C= (p.Thr536=)
c.1559C= (p.Thr520=)
c.1418C= (p.Thr473=)
c.1403C= (p.Thr468=)
c.1262C= (p.Thr421=)
c.1073C= (p.Thr358=)
c.1058C= (p.Thr353=)
c.563C= (p.Thr188=)
c.374C= (p.Thr125=)
10g.86716450C>GCA377450073LDB3n.515-2277C>G
c.1166C>G (p.Thr389Ser)
c.1214C>G (p.Thr405Ser)
c.1355C>G (p.Thr452Ser)
c.1025C>G (p.Thr342Ser)
c.1370C>G (p.Thr457Ser)
c.1607C>G (p.Thr536Ser)
c.1559C>G (p.Thr520Ser)
c.1418C>G (p.Thr473Ser)
c.1403C>G (p.Thr468Ser)
c.1262C>G (p.Thr421Ser)
c.1073C>G (p.Thr358Ser)
c.1058C>G (p.Thr353Ser)
c.563C>G (p.Thr188Ser)
c.374C>G (p.Thr125Ser)
10g.86716450C>TCA377450071LDB3n.515-2277C>T
c.1166C>T (p.Thr389Ile)
c.1214C>T (p.Thr405Ile)
c.1355C>T (p.Thr452Ile)
c.1025C>T (p.Thr342Ile)
c.1370C>T (p.Thr457Ile)
c.1607C>T (p.Thr536Ile)
c.1559C>T (p.Thr520Ile)
c.1418C>T (p.Thr473Ile)
c.1403C>T (p.Thr468Ile)
c.1262C>T (p.Thr421Ile)
c.1073C>T (p.Thr358Ile)
c.1058C>T (p.Thr353Ile)
c.563C>T (p.Thr188Ile)
c.374C>T (p.Thr125Ile)
 gnomAD v4
10g.86716450_86716461delinsCCTACACTCCATCA1925631869LDB3n.515-2277_515-2266delinsCCTACACTCCAT
c.1166_1177delinsCCTACACTCCAT (p.Thr389=)
c.1214_1225delinsCCTACACTCCAT (p.Thr405=)
c.1355_1366delinsCCTACACTCCAT (p.Thr452=)
c.1025_1036delinsCCTACACTCCAT (p.Thr342=)
c.1370_1381delinsCCTACACTCCAT (p.Thr457=)
c.1607_1618delinsCCTACACTCCAT (p.Thr536=)
c.1559_1570delinsCCTACACTCCAT (p.Thr520=)
c.1418_1429delinsCCTACACTCCAT (p.Thr473=)
c.1403_1414delinsCCTACACTCCAT (p.Thr468=)
c.1262_1273delinsCCTACACTCCAT (p.Thr421=)
c.1073_1084delinsCCTACACTCCAT (p.Thr358=)
c.1058_1069delinsCCTACACTCCAT (p.Thr353=)
c.563_574delinsCCTACACTCCAT (p.Thr188=)
c.374_385delinsCCTACACTCCAT (p.Thr125=)
10g.86716451C>ACA470374979LDB3n.515-2276C>A
c.1167C>A (p.Thr389=)
c.1215C>A (p.Thr405=)
c.1356C>A (p.Thr452=)
c.1026C>A (p.Thr342=)
c.1371C>A (p.Thr457=)
c.1608C>A (p.Thr536=)
c.1560C>A (p.Thr520=)
c.1419C>A (p.Thr473=)
c.1404C>A (p.Thr468=)
c.1263C>A (p.Thr421=)
c.1074C>A (p.Thr358=)
c.1059C>A (p.Thr353=)
c.564C>A (p.Thr188=)
c.375C>A (p.Thr125=)
10g.86716451C>GCA470374980LDB3n.515-2276C>G
c.1167C>G (p.Thr389=)
c.1215C>G (p.Thr405=)
c.1356C>G (p.Thr452=)
c.1026C>G (p.Thr342=)
c.1371C>G (p.Thr457=)
c.1608C>G (p.Thr536=)
c.1560C>G (p.Thr520=)
c.1419C>G (p.Thr473=)
c.1404C>G (p.Thr468=)
c.1263C>G (p.Thr421=)
c.1074C>G (p.Thr358=)
c.1059C>G (p.Thr353=)
c.564C>G (p.Thr188=)
c.375C>G (p.Thr125=)
10g.86716451C>TCA470374982LDB3n.515-2276C>T
c.1167C>T (p.Thr389=)
c.1215C>T (p.Thr405=)
c.1356C>T (p.Thr452=)
c.1026C>T (p.Thr342=)
c.1371C>T (p.Thr457=)
c.1608C>T (p.Thr536=)
c.1560C>T (p.Thr520=)
c.1419C>T (p.Thr473=)
c.1404C>T (p.Thr468=)
c.1263C>T (p.Thr421=)
c.1074C>T (p.Thr358=)
c.1059C>T (p.Thr353=)
c.564C>T (p.Thr188=)
c.375C>T (p.Thr125=)
10g.86716452_86716462delCA5585138LDB3n.515-2275_515-2265del
c.1168_1178del (p.Tyr390ProfsTer14)
c.1216_1226del (p.Tyr406ProfsTer14)
c.1357_1367del (p.Tyr453ProfsTer14)
c.1027_1037del (p.Tyr343ProfsTer14)
c.1372_1382del (p.Tyr458ProfsTer14)
c.1609_1619del (p.Tyr537ProfsTer14)
c.1561_1571del (p.Tyr521ProfsTer14)
c.1420_1430del (p.Tyr474ProfsTer14)
c.1405_1415del (p.Tyr469ProfsTer14)
c.1264_1274del (p.Tyr422ProfsTer14)
c.1075_1085del (p.Tyr359ProfsTer14)
c.1060_1070del (p.Tyr354ProfsTer14)
c.565_575del (p.Tyr189ProfsTer14)
c.376_386del (p.Tyr126ProfsTer14)
 dbSNP ExAC
10g.86716452T>ACA377450078LDB3n.515-2275T>A
c.1168T>A (p.Tyr390Asn)
c.1216T>A (p.Tyr406Asn)
c.1357T>A (p.Tyr453Asn)
c.1027T>A (p.Tyr343Asn)
c.1372T>A (p.Tyr458Asn)
c.1609T>A (p.Tyr537Asn)
c.1561T>A (p.Tyr521Asn)
c.1420T>A (p.Tyr474Asn)
c.1405T>A (p.Tyr469Asn)
c.1264T>A (p.Tyr422Asn)
c.1075T>A (p.Tyr359Asn)
c.1060T>A (p.Tyr354Asn)
c.565T>A (p.Tyr189Asn)
c.376T>A (p.Tyr126Asn)
10g.86716452T>CCA377450086LDB3n.515-2275T>C
c.1168T>C (p.Tyr390His)
c.1216T>C (p.Tyr406His)
c.1357T>C (p.Tyr453His)
c.1027T>C (p.Tyr343His)
c.1372T>C (p.Tyr458His)
c.1609T>C (p.Tyr537His)
c.1561T>C (p.Tyr521His)
c.1420T>C (p.Tyr474His)
c.1405T>C (p.Tyr469His)
c.1264T>C (p.Tyr422His)
c.1075T>C (p.Tyr359His)
c.1060T>C (p.Tyr354His)
c.565T>C (p.Tyr189His)
c.376T>C (p.Tyr126His)
 dbSNP gnomAD v2
10g.86716452T>GCA377450089LDB3n.515-2275T>G
c.1168T>G (p.Tyr390Asp)
c.1216T>G (p.Tyr406Asp)
c.1357T>G (p.Tyr453Asp)
c.1027T>G (p.Tyr343Asp)
c.1372T>G (p.Tyr458Asp)
c.1609T>G (p.Tyr537Asp)
c.1561T>G (p.Tyr521Asp)
c.1420T>G (p.Tyr474Asp)
c.1405T>G (p.Tyr469Asp)
c.1264T>G (p.Tyr422Asp)
c.1075T>G (p.Tyr359Asp)
c.1060T>G (p.Tyr354Asp)
c.565T>G (p.Tyr189Asp)
c.376T>G (p.Tyr126Asp)
 gnomAD v4
10g.86716452T=CA1925631871LDB3n.515-2275T=
c.1168T= (p.Tyr390=)
c.1216T= (p.Tyr406=)
c.1357T= (p.Tyr453=)
c.1027T= (p.Tyr343=)
c.1372T= (p.Tyr458=)
c.1609T= (p.Tyr537=)
c.1561T= (p.Tyr521=)
c.1420T= (p.Tyr474=)
c.1405T= (p.Tyr469=)
c.1264T= (p.Tyr422=)
c.1075T= (p.Tyr359=)
c.1060T= (p.Tyr354=)
c.565T= (p.Tyr189=)
c.376T= (p.Tyr126=)
10g.86716453A=CA1925631872LDB3n.515-2274A=
c.1169A= (p.Tyr390=)
c.1217A= (p.Tyr406=)
c.1358A= (p.Tyr453=)
c.1028A= (p.Tyr343=)
c.1373A= (p.Tyr458=)
c.1610A= (p.Tyr537=)
c.1562A= (p.Tyr521=)
c.1421A= (p.Tyr474=)
c.1406A= (p.Tyr469=)
c.1265A= (p.Tyr422=)
c.1076A= (p.Tyr359=)
c.1061A= (p.Tyr354=)
c.566A= (p.Tyr189=)
c.377A= (p.Tyr126=)
10g.86716453A>CCA377450090LDB3n.515-2274A>C
c.1169A>C (p.Tyr390Ser)
c.1217A>C (p.Tyr406Ser)
c.1358A>C (p.Tyr453Ser)
c.1028A>C (p.Tyr343Ser)
c.1373A>C (p.Tyr458Ser)
c.1610A>C (p.Tyr537Ser)
c.1562A>C (p.Tyr521Ser)
c.1421A>C (p.Tyr474Ser)
c.1406A>C (p.Tyr469Ser)
c.1265A>C (p.Tyr422Ser)
c.1076A>C (p.Tyr359Ser)
c.1061A>C (p.Tyr354Ser)
c.566A>C (p.Tyr189Ser)
c.377A>C (p.Tyr126Ser)
 dbSNP gnomAD v2
10g.86716453A>GCA377450091LDB3n.515-2274A>G
c.1169A>G (p.Tyr390Cys)
c.1217A>G (p.Tyr406Cys)
c.1358A>G (p.Tyr453Cys)
c.1028A>G (p.Tyr343Cys)
c.1373A>G (p.Tyr458Cys)
c.1610A>G (p.Tyr537Cys)
c.1562A>G (p.Tyr521Cys)
c.1421A>G (p.Tyr474Cys)
c.1406A>G (p.Tyr469Cys)
c.1265A>G (p.Tyr422Cys)
c.1076A>G (p.Tyr359Cys)
c.1061A>G (p.Tyr354Cys)
c.566A>G (p.Tyr189Cys)
c.377A>G (p.Tyr126Cys)
10g.86716453A>TCA377450092LDB3n.515-2274A>T
c.1169A>T (p.Tyr390Phe)
c.1217A>T (p.Tyr406Phe)
c.1358A>T (p.Tyr453Phe)
c.1028A>T (p.Tyr343Phe)
c.1373A>T (p.Tyr458Phe)
c.1610A>T (p.Tyr537Phe)
c.1562A>T (p.Tyr521Phe)
c.1421A>T (p.Tyr474Phe)
c.1406A>T (p.Tyr469Phe)
c.1265A>T (p.Tyr422Phe)
c.1076A>T (p.Tyr359Phe)
c.1061A>T (p.Tyr354Phe)
c.566A>T (p.Tyr189Phe)
c.377A>T (p.Tyr126Phe)
10g.86716454C>ACA377450093LDB3n.515-2273C>A
c.1170C>A (p.Tyr390Ter)
c.1218C>A (p.Tyr406Ter)
c.1359C>A (p.Tyr453Ter)
c.1029C>A (p.Tyr343Ter)
c.1374C>A (p.Tyr458Ter)
c.1611C>A (p.Tyr537Ter)
c.1563C>A (p.Tyr521Ter)
c.1422C>A (p.Tyr474Ter)
c.1407C>A (p.Tyr469Ter)
c.1266C>A (p.Tyr422Ter)
c.1077C>A (p.Tyr359Ter)
c.1062C>A (p.Tyr354Ter)
c.567C>A (p.Tyr189Ter)
c.378C>A (p.Tyr126Ter)
10g.86716454C=CA1925631873LDB3n.515-2273C=
c.1170C= (p.Tyr390=)
c.1218C= (p.Tyr406=)
c.1359C= (p.Tyr453=)
c.1029C= (p.Tyr343=)
c.1374C= (p.Tyr458=)
c.1611C= (p.Tyr537=)
c.1563C= (p.Tyr521=)
c.1422C= (p.Tyr474=)
c.1407C= (p.Tyr469=)
c.1266C= (p.Tyr422=)
c.1077C= (p.Tyr359=)
c.1062C= (p.Tyr354=)
c.567C= (p.Tyr189=)
c.378C= (p.Tyr126=)
10g.86716454C>GCA377450094LDB3n.515-2273C>G
c.1170C>G (p.Tyr390Ter)
c.1218C>G (p.Tyr406Ter)
c.1359C>G (p.Tyr453Ter)
c.1029C>G (p.Tyr343Ter)
c.1374C>G (p.Tyr458Ter)
c.1611C>G (p.Tyr537Ter)
c.1563C>G (p.Tyr521Ter)
c.1422C>G (p.Tyr474Ter)
c.1407C>G (p.Tyr469Ter)
c.1266C>G (p.Tyr422Ter)
c.1077C>G (p.Tyr359Ter)
c.1062C>G (p.Tyr354Ter)
c.567C>G (p.Tyr189Ter)
c.378C>G (p.Tyr126Ter)
10g.86716454C>TCA470374991LDB3n.515-2273C>T
c.1170C>T (p.Tyr390=)
c.1218C>T (p.Tyr406=)
c.1359C>T (p.Tyr453=)
c.1029C>T (p.Tyr343=)
c.1374C>T (p.Tyr458=)
c.1611C>T (p.Tyr537=)
c.1563C>T (p.Tyr521=)
c.1422C>T (p.Tyr474=)
c.1407C>T (p.Tyr469=)
c.1266C>T (p.Tyr422=)
c.1077C>T (p.Tyr359=)
c.1062C>T (p.Tyr354=)
c.567C>T (p.Tyr189=)
c.378C>T (p.Tyr126=)
 dbSNP gnomAD v4
10g.86716455A=CA1925631874LDB3n.515-2272A=
c.1171A= (p.Thr391=)
c.1219A= (p.Thr407=)
c.1360A= (p.Thr454=)
c.1030A= (p.Thr344=)
c.1375A= (p.Thr459=)
c.1612A= (p.Thr538=)
c.1564A= (p.Thr522=)
c.1423A= (p.Thr475=)
c.1408A= (p.Thr470=)
c.1267A= (p.Thr423=)
c.1078A= (p.Thr360=)
c.1063A= (p.Thr355=)
c.568A= (p.Thr190=)
c.379A= (p.Thr127=)
10g.86716455A>CCA377450096LDB3n.515-2272A>C
c.1171A>C (p.Thr391Pro)
c.1219A>C (p.Thr407Pro)
c.1360A>C (p.Thr454Pro)
c.1030A>C (p.Thr344Pro)
c.1375A>C (p.Thr459Pro)
c.1612A>C (p.Thr538Pro)
c.1564A>C (p.Thr522Pro)
c.1423A>C (p.Thr475Pro)
c.1408A>C (p.Thr470Pro)
c.1267A>C (p.Thr423Pro)
c.1078A>C (p.Thr360Pro)
c.1063A>C (p.Thr355Pro)
c.568A>C (p.Thr190Pro)
c.379A>C (p.Thr127Pro)
 dbSNP gnomAD v2
10g.86716455A>GCA377450101LDB3n.515-2272A>G
c.1171A>G (p.Thr391Ala)
c.1219A>G (p.Thr407Ala)
c.1360A>G (p.Thr454Ala)
c.1030A>G (p.Thr344Ala)
c.1375A>G (p.Thr459Ala)
c.1612A>G (p.Thr538Ala)
c.1564A>G (p.Thr522Ala)
c.1423A>G (p.Thr475Ala)
c.1408A>G (p.Thr470Ala)
c.1267A>G (p.Thr423Ala)
c.1078A>G (p.Thr360Ala)
c.1063A>G (p.Thr355Ala)
c.568A>G (p.Thr190Ala)
c.379A>G (p.Thr127Ala)
10g.86716455A>TCA377450102LDB3n.515-2272A>T
c.1171A>T (p.Thr391Ser)
c.1219A>T (p.Thr407Ser)
c.1360A>T (p.Thr454Ser)
c.1030A>T (p.Thr344Ser)
c.1375A>T (p.Thr459Ser)
c.1612A>T (p.Thr538Ser)
c.1564A>T (p.Thr522Ser)
c.1423A>T (p.Thr475Ser)
c.1408A>T (p.Thr470Ser)
c.1267A>T (p.Thr423Ser)
c.1078A>T (p.Thr360Ser)
c.1063A>T (p.Thr355Ser)
c.568A>T (p.Thr190Ser)
c.379A>T (p.Thr127Ser)
10g.86716456C>ACA377450114LDB3n.515-2271C>A
c.1172C>A (p.Thr391Asn)
c.1220C>A (p.Thr407Asn)
c.1361C>A (p.Thr454Asn)
c.1031C>A (p.Thr344Asn)
c.1376C>A (p.Thr459Asn)
c.1613C>A (p.Thr538Asn)
c.1565C>A (p.Thr522Asn)
c.1424C>A (p.Thr475Asn)
c.1409C>A (p.Thr470Asn)
c.1268C>A (p.Thr423Asn)
c.1079C>A (p.Thr360Asn)
c.1064C>A (p.Thr355Asn)
c.569C>A (p.Thr190Asn)
c.380C>A (p.Thr127Asn)
10g.86716456C=CA1925631875LDB3n.515-2271C=
c.1172C= (p.Thr391=)
c.1220C= (p.Thr407=)
c.1361C= (p.Thr454=)
c.1031C= (p.Thr344=)
c.1376C= (p.Thr459=)
c.1613C= (p.Thr538=)
c.1565C= (p.Thr522=)
c.1424C= (p.Thr475=)
c.1409C= (p.Thr470=)
c.1268C= (p.Thr423=)
c.1079C= (p.Thr360=)
c.1064C= (p.Thr355=)
c.569C= (p.Thr190=)
c.380C= (p.Thr127=)
10g.86716456C>GCA377450117LDB3n.515-2271C>G
c.1172C>G (p.Thr391Ser)
c.1220C>G (p.Thr407Ser)
c.1361C>G (p.Thr454Ser)
c.1031C>G (p.Thr344Ser)
c.1376C>G (p.Thr459Ser)
c.1613C>G (p.Thr538Ser)
c.1565C>G (p.Thr522Ser)
c.1424C>G (p.Thr475Ser)
c.1409C>G (p.Thr470Ser)
c.1268C>G (p.Thr423Ser)
c.1079C>G (p.Thr360Ser)
c.1064C>G (p.Thr355Ser)
c.569C>G (p.Thr190Ser)
c.380C>G (p.Thr127Ser)
10g.86716456C>TCA5585139LDB3n.515-2271C>T
c.1172C>T (p.Thr391Ile)
c.1220C>T (p.Thr407Ile)
c.1361C>T (p.Thr454Ile)
c.1031C>T (p.Thr344Ile)
c.1376C>T (p.Thr459Ile)
c.1613C>T (p.Thr538Ile)
c.1565C>T (p.Thr522Ile)
c.1424C>T (p.Thr475Ile)
c.1409C>T (p.Thr470Ile)
c.1268C>T (p.Thr423Ile)
c.1079C>T (p.Thr360Ile)
c.1064C>T (p.Thr355Ile)
c.569C>T (p.Thr190Ile)
c.380C>T (p.Thr127Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716457T>ACA470375000LDB3n.515-2270T>A
c.1173T>A (p.Thr391=)
c.1221T>A (p.Thr407=)
c.1362T>A (p.Thr454=)
c.1032T>A (p.Thr344=)
c.1377T>A (p.Thr459=)
c.1614T>A (p.Thr538=)
c.1566T>A (p.Thr522=)
c.1425T>A (p.Thr475=)
c.1410T>A (p.Thr470=)
c.1269T>A (p.Thr423=)
c.1080T>A (p.Thr360=)
c.1065T>A (p.Thr355=)
c.570T>A (p.Thr190=)
c.381T>A (p.Thr127=)
10g.86716457T>CCA470375002LDB3n.515-2270T>C
c.1173T>C (p.Thr391=)
c.1221T>C (p.Thr407=)
c.1362T>C (p.Thr454=)
c.1032T>C (p.Thr344=)
c.1377T>C (p.Thr459=)
c.1614T>C (p.Thr538=)
c.1566T>C (p.Thr522=)
c.1425T>C (p.Thr475=)
c.1410T>C (p.Thr470=)
c.1269T>C (p.Thr423=)
c.1080T>C (p.Thr360=)
c.1065T>C (p.Thr355=)
c.570T>C (p.Thr190=)
c.381T>C (p.Thr127=)
 ClinVar dbSNP gnomAD v2
10g.86716457T>GCA470375004LDB3n.515-2270T>G
c.1173T>G (p.Thr391=)
c.1221T>G (p.Thr407=)
c.1362T>G (p.Thr454=)
c.1032T>G (p.Thr344=)
c.1377T>G (p.Thr459=)
c.1614T>G (p.Thr538=)
c.1566T>G (p.Thr522=)
c.1425T>G (p.Thr475=)
c.1410T>G (p.Thr470=)
c.1269T>G (p.Thr423=)
c.1080T>G (p.Thr360=)
c.1065T>G (p.Thr355=)
c.570T>G (p.Thr190=)
c.381T>G (p.Thr127=)
10g.86716457T=CA1925631876LDB3n.515-2270T=
c.1173T= (p.Thr391=)
c.1221T= (p.Thr407=)
c.1362T= (p.Thr454=)
c.1032T= (p.Thr344=)
c.1377T= (p.Thr459=)
c.1614T= (p.Thr538=)
c.1566T= (p.Thr522=)
c.1425T= (p.Thr475=)
c.1410T= (p.Thr470=)
c.1269T= (p.Thr423=)
c.1080T= (p.Thr360=)
c.1065T= (p.Thr355=)
c.570T= (p.Thr190=)
c.381T= (p.Thr127=)
10g.86716458C>ACA377450122LDB3n.515-2269C>A
c.1174C>A (p.Pro392Thr)
c.1222C>A (p.Pro408Thr)
c.1363C>A (p.Pro455Thr)
c.1033C>A (p.Pro345Thr)
c.1378C>A (p.Pro460Thr)
c.1615C>A (p.Pro539Thr)
c.1567C>A (p.Pro523Thr)
c.1426C>A (p.Pro476Thr)
c.1411C>A (p.Pro471Thr)
c.1270C>A (p.Pro424Thr)
c.1081C>A (p.Pro361Thr)
c.1066C>A (p.Pro356Thr)
c.571C>A (p.Pro191Thr)
c.382C>A (p.Pro128Thr)
10g.86716458C=CA1925631877LDB3n.515-2269C=
c.1174C= (p.Pro392=)
c.1222C= (p.Pro408=)
c.1363C= (p.Pro455=)
c.1033C= (p.Pro345=)
c.1378C= (p.Pro460=)
c.1615C= (p.Pro539=)
c.1567C= (p.Pro523=)
c.1426C= (p.Pro476=)
c.1411C= (p.Pro471=)
c.1270C= (p.Pro424=)
c.1081C= (p.Pro361=)
c.1066C= (p.Pro356=)
c.571C= (p.Pro191=)
c.382C= (p.Pro128=)
10g.86716458C>GCA377450125LDB3n.515-2269C>G
c.1174C>G (p.Pro392Ala)
c.1222C>G (p.Pro408Ala)
c.1363C>G (p.Pro455Ala)
c.1033C>G (p.Pro345Ala)
c.1378C>G (p.Pro460Ala)
c.1615C>G (p.Pro539Ala)
c.1567C>G (p.Pro523Ala)
c.1426C>G (p.Pro476Ala)
c.1411C>G (p.Pro471Ala)
c.1270C>G (p.Pro424Ala)
c.1081C>G (p.Pro361Ala)
c.1066C>G (p.Pro356Ala)
c.571C>G (p.Pro191Ala)
c.382C>G (p.Pro128Ala)
10g.86716458C>TCA377450131LDB3n.515-2269C>T
c.1174C>T (p.Pro392Ser)
c.1222C>T (p.Pro408Ser)
c.1363C>T (p.Pro455Ser)
c.1033C>T (p.Pro345Ser)
c.1378C>T (p.Pro460Ser)
c.1615C>T (p.Pro539Ser)
c.1567C>T (p.Pro523Ser)
c.1426C>T (p.Pro476Ser)
c.1411C>T (p.Pro471Ser)
c.1270C>T (p.Pro424Ser)
c.1081C>T (p.Pro361Ser)
c.1066C>T (p.Pro356Ser)
c.571C>T (p.Pro191Ser)
c.382C>T (p.Pro128Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.86716459C>ACA377450137LDB3n.515-2268C>A
c.1175C>A (p.Pro392Gln)
c.1223C>A (p.Pro408Gln)
c.1364C>A (p.Pro455Gln)
c.1034C>A (p.Pro345Gln)
c.1379C>A (p.Pro460Gln)
c.1616C>A (p.Pro539Gln)
c.1568C>A (p.Pro523Gln)
c.1427C>A (p.Pro476Gln)
c.1412C>A (p.Pro471Gln)
c.1271C>A (p.Pro424Gln)
c.1082C>A (p.Pro361Gln)
c.1067C>A (p.Pro356Gln)
c.572C>A (p.Pro191Gln)
c.383C>A (p.Pro128Gln)
10g.86716459C=CA1925631878LDB3n.515-2268C=
c.1175C= (p.Pro392=)
c.1223C= (p.Pro408=)
c.1364C= (p.Pro455=)
c.1034C= (p.Pro345=)
c.1379C= (p.Pro460=)
c.1616C= (p.Pro539=)
c.1568C= (p.Pro523=)
c.1427C= (p.Pro476=)
c.1412C= (p.Pro471=)
c.1271C= (p.Pro424=)
c.1082C= (p.Pro361=)
c.1067C= (p.Pro356=)
c.572C= (p.Pro191=)
c.383C= (p.Pro128=)
10g.86716459C>GCA377450140LDB3n.515-2268C>G
c.1175C>G (p.Pro392Arg)
c.1223C>G (p.Pro408Arg)
c.1364C>G (p.Pro455Arg)
c.1034C>G (p.Pro345Arg)
c.1379C>G (p.Pro460Arg)
c.1616C>G (p.Pro539Arg)
c.1568C>G (p.Pro523Arg)
c.1427C>G (p.Pro476Arg)
c.1412C>G (p.Pro471Arg)
c.1271C>G (p.Pro424Arg)
c.1082C>G (p.Pro361Arg)
c.1067C>G (p.Pro356Arg)
c.572C>G (p.Pro191Arg)
c.383C>G (p.Pro128Arg)
10g.86716459C>TCA377450147LDB3n.515-2268C>T
c.1175C>T (p.Pro392Leu)
c.1223C>T (p.Pro408Leu)
c.1364C>T (p.Pro455Leu)
c.1034C>T (p.Pro345Leu)
c.1379C>T (p.Pro460Leu)
c.1616C>T (p.Pro539Leu)
c.1568C>T (p.Pro523Leu)
c.1427C>T (p.Pro476Leu)
c.1412C>T (p.Pro471Leu)
c.1271C>T (p.Pro424Leu)
c.1082C>T (p.Pro361Leu)
c.1067C>T (p.Pro356Leu)
c.572C>T (p.Pro191Leu)
c.383C>T (p.Pro128Leu)
 ClinVar dbSNP
10g.86716460A=CA1925631879LDB3n.515-2267A=
c.1176A= (p.Pro392=)
c.1224A= (p.Pro408=)
c.1365A= (p.Pro455=)
c.1035A= (p.Pro345=)
c.1380A= (p.Pro460=)
c.1617A= (p.Pro539=)
c.1569A= (p.Pro523=)
c.1428A= (p.Pro476=)
c.1413A= (p.Pro471=)
c.1272A= (p.Pro424=)
c.1083A= (p.Pro361=)
c.1068A= (p.Pro356=)
c.573A= (p.Pro191=)
c.384A= (p.Pro128=)
10g.86716460A>CCA470375011LDB3n.515-2267A>C
c.1176A>C (p.Pro392=)
c.1224A>C (p.Pro408=)
c.1365A>C (p.Pro455=)
c.1035A>C (p.Pro345=)
c.1380A>C (p.Pro460=)
c.1617A>C (p.Pro539=)
c.1569A>C (p.Pro523=)
c.1428A>C (p.Pro476=)
c.1413A>C (p.Pro471=)
c.1272A>C (p.Pro424=)
c.1083A>C (p.Pro361=)
c.1068A>C (p.Pro356=)
c.573A>C (p.Pro191=)
c.384A>C (p.Pro128=)
 ClinVar dbSNP gnomAD v2
10g.86716460A>GCA470375013LDB3n.515-2267A>G
c.1176A>G (p.Pro392=)
c.1224A>G (p.Pro408=)
c.1365A>G (p.Pro455=)
c.1035A>G (p.Pro345=)
c.1380A>G (p.Pro460=)
c.1617A>G (p.Pro539=)
c.1569A>G (p.Pro523=)
c.1428A>G (p.Pro476=)
c.1413A>G (p.Pro471=)
c.1272A>G (p.Pro424=)
c.1083A>G (p.Pro361=)
c.1068A>G (p.Pro356=)
c.573A>G (p.Pro191=)
c.384A>G (p.Pro128=)
10g.86716460A>TCA470375017LDB3n.515-2267A>T
c.1176A>T (p.Pro392=)
c.1224A>T (p.Pro408=)
c.1365A>T (p.Pro455=)
c.1035A>T (p.Pro345=)
c.1380A>T (p.Pro460=)
c.1617A>T (p.Pro539=)
c.1569A>T (p.Pro523=)
c.1428A>T (p.Pro476=)
c.1413A>T (p.Pro471=)
c.1272A>T (p.Pro424=)
c.1083A>T (p.Pro361=)
c.1068A>T (p.Pro356=)
c.573A>T (p.Pro191=)
c.384A>T (p.Pro128=)
10g.86716461T>ACA377450150LDB3n.515-2266T>A
c.1177T>A (p.Ser393Thr)
c.1225T>A (p.Ser409Thr)
c.1366T>A (p.Ser456Thr)
c.1036T>A (p.Ser346Thr)
c.1381T>A (p.Ser461Thr)
c.1618T>A (p.Ser540Thr)
c.1570T>A (p.Ser524Thr)
c.1429T>A (p.Ser477Thr)
c.1414T>A (p.Ser472Thr)
c.1273T>A (p.Ser425Thr)
c.1084T>A (p.Ser362Thr)
c.1069T>A (p.Ser357Thr)
c.574T>A (p.Ser192Thr)
c.385T>A (p.Ser129Thr)
 ClinVar gnomAD v4
10g.86716461T>CCA5585140LDB3n.515-2266T>C
c.1177T>C (p.Ser393Pro)
c.1225T>C (p.Ser409Pro)
c.1366T>C (p.Ser456Pro)
c.1036T>C (p.Ser346Pro)
c.1381T>C (p.Ser461Pro)
c.1618T>C (p.Ser540Pro)
c.1570T>C (p.Ser524Pro)
c.1429T>C (p.Ser477Pro)
c.1414T>C (p.Ser472Pro)
c.1273T>C (p.Ser425Pro)
c.1084T>C (p.Ser362Pro)
c.1069T>C (p.Ser357Pro)
c.574T>C (p.Ser192Pro)
c.385T>C (p.Ser129Pro)
 dbSNP ExAC gnomAD v2
10g.86716461T>GCA377450153LDB3n.515-2266T>G
c.1177T>G (p.Ser393Ala)
c.1225T>G (p.Ser409Ala)
c.1366T>G (p.Ser456Ala)
c.1036T>G (p.Ser346Ala)
c.1381T>G (p.Ser461Ala)
c.1618T>G (p.Ser540Ala)
c.1570T>G (p.Ser524Ala)
c.1429T>G (p.Ser477Ala)
c.1414T>G (p.Ser472Ala)
c.1273T>G (p.Ser425Ala)
c.1084T>G (p.Ser362Ala)
c.1069T>G (p.Ser357Ala)
c.574T>G (p.Ser192Ala)
c.385T>G (p.Ser129Ala)
10g.86716461T=CA1925631880LDB3n.515-2266T=
c.1177T= (p.Ser393=)
c.1225T= (p.Ser409=)
c.1366T= (p.Ser456=)
c.1036T= (p.Ser346=)
c.1381T= (p.Ser461=)
c.1618T= (p.Ser540=)
c.1570T= (p.Ser524=)
c.1429T= (p.Ser477=)
c.1414T= (p.Ser472=)
c.1273T= (p.Ser425=)
c.1084T= (p.Ser362=)
c.1069T= (p.Ser357=)
c.574T= (p.Ser192=)
c.385T= (p.Ser129=)
10g.86716462C>ACA377450155LDB3n.515-2265C>A
c.1178C>A (p.Ser393Tyr)
c.1226C>A (p.Ser409Tyr)
c.1367C>A (p.Ser456Tyr)
c.1037C>A (p.Ser346Tyr)
c.1382C>A (p.Ser461Tyr)
c.1619C>A (p.Ser540Tyr)
c.1571C>A (p.Ser524Tyr)
c.1430C>A (p.Ser477Tyr)
c.1415C>A (p.Ser472Tyr)
c.1274C>A (p.Ser425Tyr)
c.1085C>A (p.Ser362Tyr)
c.1070C>A (p.Ser357Tyr)
c.575C>A (p.Ser192Tyr)
c.386C>A (p.Ser129Tyr)
10g.86716462C>GCA377450160LDB3n.515-2265C>G
c.1178C>G (p.Ser393Cys)
c.1226C>G (p.Ser409Cys)
c.1367C>G (p.Ser456Cys)
c.1037C>G (p.Ser346Cys)
c.1382C>G (p.Ser461Cys)
c.1619C>G (p.Ser540Cys)
c.1571C>G (p.Ser524Cys)
c.1430C>G (p.Ser477Cys)
c.1415C>G (p.Ser472Cys)
c.1274C>G (p.Ser425Cys)
c.1085C>G (p.Ser362Cys)
c.1070C>G (p.Ser357Cys)
c.575C>G (p.Ser192Cys)
c.386C>G (p.Ser129Cys)
10g.86716462C>TCA377450162LDB3n.515-2265C>T
c.1178C>T (p.Ser393Phe)
c.1226C>T (p.Ser409Phe)
c.1367C>T (p.Ser456Phe)
c.1037C>T (p.Ser346Phe)
c.1382C>T (p.Ser461Phe)
c.1619C>T (p.Ser540Phe)
c.1571C>T (p.Ser524Phe)
c.1430C>T (p.Ser477Phe)
c.1415C>T (p.Ser472Phe)
c.1274C>T (p.Ser425Phe)
c.1085C>T (p.Ser362Phe)
c.1070C>T (p.Ser357Phe)
c.575C>T (p.Ser192Phe)
c.386C>T (p.Ser129Phe)
10g.86716463C>ACA470375024LDB3n.515-2264C>A
c.1179C>A (p.Ser393=)
c.1227C>A (p.Ser409=)
c.1368C>A (p.Ser456=)
c.1038C>A (p.Ser346=)
c.1383C>A (p.Ser461=)
c.1620C>A (p.Ser540=)
c.1572C>A (p.Ser524=)
c.1431C>A (p.Ser477=)
c.1416C>A (p.Ser472=)
c.1275C>A (p.Ser425=)
c.1086C>A (p.Ser362=)
c.1071C>A (p.Ser357=)
c.576C>A (p.Ser192=)
c.387C>A (p.Ser129=)
10g.86716463C=CA1925631881LDB3n.515-2264C=
c.1179C= (p.Ser393=)
c.1227C= (p.Ser409=)
c.1368C= (p.Ser456=)
c.1038C= (p.Ser346=)
c.1383C= (p.Ser461=)
c.1620C= (p.Ser540=)
c.1572C= (p.Ser524=)
c.1431C= (p.Ser477=)
c.1416C= (p.Ser472=)
c.1275C= (p.Ser425=)
c.1086C= (p.Ser362=)
c.1071C= (p.Ser357=)
c.576C= (p.Ser192=)
c.387C= (p.Ser129=)
10g.86716463C>GCA470375026LDB3n.515-2264C>G
c.1179C>G (p.Ser393=)
c.1227C>G (p.Ser409=)
c.1368C>G (p.Ser456=)
c.1038C>G (p.Ser346=)
c.1383C>G (p.Ser461=)
c.1620C>G (p.Ser540=)
c.1572C>G (p.Ser524=)
c.1431C>G (p.Ser477=)
c.1416C>G (p.Ser472=)
c.1275C>G (p.Ser425=)
c.1086C>G (p.Ser362=)
c.1071C>G (p.Ser357=)
c.576C>G (p.Ser192=)
c.387C>G (p.Ser129=)
10g.86716463C>TCA5585141LDB3n.515-2264C>T
c.1179C>T (p.Ser393=)
c.1227C>T (p.Ser409=)
c.1368C>T (p.Ser456=)
c.1038C>T (p.Ser346=)
c.1383C>T (p.Ser461=)
c.1620C>T (p.Ser540=)
c.1572C>T (p.Ser524=)
c.1431C>T (p.Ser477=)
c.1416C>T (p.Ser472=)
c.1275C>T (p.Ser425=)
c.1086C>T (p.Ser362=)
c.1071C>T (p.Ser357=)
c.576C>T (p.Ser192=)
c.387C>T (p.Ser129=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716464C>ACA377450177LDB3n.515-2263C>A
c.1180C>A (p.Pro394Thr)
c.1228C>A (p.Pro410Thr)
c.1369C>A (p.Pro457Thr)
c.1039C>A (p.Pro347Thr)
c.1384C>A (p.Pro462Thr)
c.1621C>A (p.Pro541Thr)
c.1573C>A (p.Pro525Thr)
c.1432C>A (p.Pro478Thr)
c.1417C>A (p.Pro473Thr)
c.1276C>A (p.Pro426Thr)
c.1087C>A (p.Pro363Thr)
c.1072C>A (p.Pro358Thr)
c.577C>A (p.Pro193Thr)
c.388C>A (p.Pro130Thr)
 dbSNP
10g.86716464C=CA1925631882LDB3n.515-2263C=
c.1180C= (p.Pro394=)
c.1228C= (p.Pro410=)
c.1369C= (p.Pro457=)
c.1039C= (p.Pro347=)
c.1384C= (p.Pro462=)
c.1621C= (p.Pro541=)
c.1573C= (p.Pro525=)
c.1432C= (p.Pro478=)
c.1417C= (p.Pro473=)
c.1276C= (p.Pro426=)
c.1087C= (p.Pro363=)
c.1072C= (p.Pro358=)
c.577C= (p.Pro193=)
c.388C= (p.Pro130=)
10g.86716464C>GCA377450168LDB3n.515-2263C>G
c.1180C>G (p.Pro394Ala)
c.1228C>G (p.Pro410Ala)
c.1369C>G (p.Pro457Ala)
c.1039C>G (p.Pro347Ala)
c.1384C>G (p.Pro462Ala)
c.1621C>G (p.Pro541Ala)
c.1573C>G (p.Pro525Ala)
c.1432C>G (p.Pro478Ala)
c.1417C>G (p.Pro473Ala)
c.1276C>G (p.Pro426Ala)
c.1087C>G (p.Pro363Ala)
c.1072C>G (p.Pro358Ala)
c.577C>G (p.Pro193Ala)
c.388C>G (p.Pro130Ala)
10g.86716464C>TCA377450166LDB3n.515-2263C>T
c.1180C>T (p.Pro394Ser)
c.1228C>T (p.Pro410Ser)
c.1369C>T (p.Pro457Ser)
c.1039C>T (p.Pro347Ser)
c.1384C>T (p.Pro462Ser)
c.1621C>T (p.Pro541Ser)
c.1573C>T (p.Pro525Ser)
c.1432C>T (p.Pro478Ser)
c.1417C>T (p.Pro473Ser)
c.1276C>T (p.Pro426Ser)
c.1087C>T (p.Pro363Ser)
c.1072C>T (p.Pro358Ser)
c.577C>T (p.Pro193Ser)
c.388C>T (p.Pro130Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716465C>ACA377450186LDB3n.515-2262C>A
c.1181C>A (p.Pro394Gln)
c.1229C>A (p.Pro410Gln)
c.1370C>A (p.Pro457Gln)
c.1040C>A (p.Pro347Gln)
c.1385C>A (p.Pro462Gln)
c.1622C>A (p.Pro541Gln)
c.1574C>A (p.Pro525Gln)
c.1433C>A (p.Pro478Gln)
c.1418C>A (p.Pro473Gln)
c.1277C>A (p.Pro426Gln)
c.1088C>A (p.Pro363Gln)
c.1073C>A (p.Pro358Gln)
c.578C>A (p.Pro193Gln)
c.389C>A (p.Pro130Gln)
10g.86716465C=CA1925631883LDB3n.515-2262C=
c.1181C= (p.Pro394=)
c.1229C= (p.Pro410=)
c.1370C= (p.Pro457=)
c.1040C= (p.Pro347=)
c.1385C= (p.Pro462=)
c.1622C= (p.Pro541=)
c.1574C= (p.Pro525=)
c.1433C= (p.Pro478=)
c.1418C= (p.Pro473=)
c.1277C= (p.Pro426=)
c.1088C= (p.Pro363=)
c.1073C= (p.Pro358=)
c.578C= (p.Pro193=)
c.389C= (p.Pro130=)
10g.86716465C>GCA377450189LDB3n.515-2262C>G
c.1181C>G (p.Pro394Arg)
c.1229C>G (p.Pro410Arg)
c.1370C>G (p.Pro457Arg)
c.1040C>G (p.Pro347Arg)
c.1385C>G (p.Pro462Arg)
c.1622C>G (p.Pro541Arg)
c.1574C>G (p.Pro525Arg)
c.1433C>G (p.Pro478Arg)
c.1418C>G (p.Pro473Arg)
c.1277C>G (p.Pro426Arg)
c.1088C>G (p.Pro363Arg)
c.1073C>G (p.Pro358Arg)
c.578C>G (p.Pro193Arg)
c.389C>G (p.Pro130Arg)
10g.86716465C>TCA377450192LDB3n.515-2262C>T
c.1181C>T (p.Pro394Leu)
c.1229C>T (p.Pro410Leu)
c.1370C>T (p.Pro457Leu)
c.1040C>T (p.Pro347Leu)
c.1385C>T (p.Pro462Leu)
c.1622C>T (p.Pro541Leu)
c.1574C>T (p.Pro525Leu)
c.1433C>T (p.Pro478Leu)
c.1418C>T (p.Pro473Leu)
c.1277C>T (p.Pro426Leu)
c.1088C>T (p.Pro363Leu)
c.1073C>T (p.Pro358Leu)
c.578C>T (p.Pro193Leu)
c.389C>T (p.Pro130Leu)
 ClinVar dbSNP gnomAD v4
10g.86716466A=CA1925631884LDB3n.515-2261A=
c.1182A= (p.Pro394=)
c.1230A= (p.Pro410=)
c.1371A= (p.Pro457=)
c.1041A= (p.Pro347=)
c.1386A= (p.Pro462=)
c.1623A= (p.Pro541=)
c.1575A= (p.Pro525=)
c.1434A= (p.Pro478=)
c.1419A= (p.Pro473=)
c.1278A= (p.Pro426=)
c.1089A= (p.Pro363=)
c.1074A= (p.Pro358=)
c.579A= (p.Pro193=)
c.390A= (p.Pro130=)
10g.86716466A>CCA470375033LDB3n.515-2261A>C
c.1182A>C (p.Pro394=)
c.1230A>C (p.Pro410=)
c.1371A>C (p.Pro457=)
c.1041A>C (p.Pro347=)
c.1386A>C (p.Pro462=)
c.1623A>C (p.Pro541=)
c.1575A>C (p.Pro525=)
c.1434A>C (p.Pro478=)
c.1419A>C (p.Pro473=)
c.1278A>C (p.Pro426=)
c.1089A>C (p.Pro363=)
c.1074A>C (p.Pro358=)
c.579A>C (p.Pro193=)
c.390A>C (p.Pro130=)
 dbSNP gnomAD v2
10g.86716466A>GCA470375034LDB3n.515-2261A>G
c.1182A>G (p.Pro394=)
c.1230A>G (p.Pro410=)
c.1371A>G (p.Pro457=)
c.1041A>G (p.Pro347=)
c.1386A>G (p.Pro462=)
c.1623A>G (p.Pro541=)
c.1575A>G (p.Pro525=)
c.1434A>G (p.Pro478=)
c.1419A>G (p.Pro473=)
c.1278A>G (p.Pro426=)
c.1089A>G (p.Pro363=)
c.1074A>G (p.Pro358=)
c.579A>G (p.Pro193=)
c.390A>G (p.Pro130=)
10g.86716466A>TCA5585142LDB3n.515-2261A>T
c.1182A>T (p.Pro394=)
c.1230A>T (p.Pro410=)
c.1371A>T (p.Pro457=)
c.1041A>T (p.Pro347=)
c.1386A>T (p.Pro462=)
c.1623A>T (p.Pro541=)
c.1575A>T (p.Pro525=)
c.1434A>T (p.Pro478=)
c.1419A>T (p.Pro473=)
c.1278A>T (p.Pro426=)
c.1089A>T (p.Pro363=)
c.1074A>T (p.Pro358=)
c.579A>T (p.Pro193=)
c.390A>T (p.Pro130=)
 ClinVar dbSNP ExAC gnomAD v2
10g.86716467G>ACA5585143LDB3n.515-2260G>A
c.1183G>A (p.Ala395Thr)
c.1231G>A (p.Ala411Thr)
c.1372G>A (p.Ala458Thr)
c.1042G>A (p.Ala348Thr)
c.1387G>A (p.Ala463Thr)
c.1624G>A (p.Ala542Thr)
c.1576G>A (p.Ala526Thr)
c.1435G>A (p.Ala479Thr)
c.1420G>A (p.Ala474Thr)
c.1279G>A (p.Ala427Thr)
c.1090G>A (p.Ala364Thr)
c.1075G>A (p.Ala359Thr)
c.580G>A (p.Ala194Thr)
c.391G>A (p.Ala131Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716467G>CCA377450194LDB3n.515-2260G>C
c.1183G>C (p.Ala395Pro)
c.1231G>C (p.Ala411Pro)
c.1372G>C (p.Ala458Pro)
c.1042G>C (p.Ala348Pro)
c.1387G>C (p.Ala463Pro)
c.1624G>C (p.Ala542Pro)
c.1576G>C (p.Ala526Pro)
c.1435G>C (p.Ala479Pro)
c.1420G>C (p.Ala474Pro)
c.1279G>C (p.Ala427Pro)
c.1090G>C (p.Ala364Pro)
c.1075G>C (p.Ala359Pro)
c.580G>C (p.Ala194Pro)
c.391G>C (p.Ala131Pro)
 dbSNP gnomAD v2
10g.86716467G=CA1925631885LDB3n.515-2260G=
c.1183G= (p.Ala395=)
c.1231G= (p.Ala411=)
c.1372G= (p.Ala458=)
c.1042G= (p.Ala348=)
c.1387G= (p.Ala463=)
c.1624G= (p.Ala542=)
c.1576G= (p.Ala526=)
c.1435G= (p.Ala479=)
c.1420G= (p.Ala474=)
c.1279G= (p.Ala427=)
c.1090G= (p.Ala364=)
c.1075G= (p.Ala359=)
c.580G= (p.Ala194=)
c.391G= (p.Ala131=)
10g.86716467G>TCA377450195LDB3n.515-2260G>T
c.1183G>T (p.Ala395Ser)
c.1231G>T (p.Ala411Ser)
c.1372G>T (p.Ala458Ser)
c.1042G>T (p.Ala348Ser)
c.1387G>T (p.Ala463Ser)
c.1624G>T (p.Ala542Ser)
c.1576G>T (p.Ala526Ser)
c.1435G>T (p.Ala479Ser)
c.1420G>T (p.Ala474Ser)
c.1279G>T (p.Ala427Ser)
c.1090G>T (p.Ala364Ser)
c.1075G>T (p.Ala359Ser)
c.580G>T (p.Ala194Ser)
c.391G>T (p.Ala131Ser)
10g.86716468C>ACA377450196LDB3n.515-2259C>A
c.1184C>A (p.Ala395Glu)
c.1232C>A (p.Ala411Glu)
c.1373C>A (p.Ala458Glu)
c.1043C>A (p.Ala348Glu)
c.1388C>A (p.Ala463Glu)
c.1625C>A (p.Ala542Glu)
c.1577C>A (p.Ala526Glu)
c.1436C>A (p.Ala479Glu)
c.1421C>A (p.Ala474Glu)
c.1280C>A (p.Ala427Glu)
c.1091C>A (p.Ala364Glu)
c.1076C>A (p.Ala359Glu)
c.581C>A (p.Ala194Glu)
c.392C>A (p.Ala131Glu)
10g.86716468C=CA1925631886LDB3n.515-2259C=
c.1184C= (p.Ala395=)
c.1232C= (p.Ala411=)
c.1373C= (p.Ala458=)
c.1043C= (p.Ala348=)
c.1388C= (p.Ala463=)
c.1625C= (p.Ala542=)
c.1577C= (p.Ala526=)
c.1436C= (p.Ala479=)
c.1421C= (p.Ala474=)
c.1280C= (p.Ala427=)
c.1091C= (p.Ala364=)
c.1076C= (p.Ala359=)
c.581C= (p.Ala194=)
c.392C= (p.Ala131=)
10g.86716468C>GCA5585144LDB3n.515-2259C>G
c.1184C>G (p.Ala395Gly)
c.1232C>G (p.Ala411Gly)
c.1373C>G (p.Ala458Gly)
c.1043C>G (p.Ala348Gly)
c.1388C>G (p.Ala463Gly)
c.1625C>G (p.Ala542Gly)
c.1577C>G (p.Ala526Gly)
c.1436C>G (p.Ala479Gly)
c.1421C>G (p.Ala474Gly)
c.1280C>G (p.Ala427Gly)
c.1091C>G (p.Ala364Gly)
c.1076C>G (p.Ala359Gly)
c.581C>G (p.Ala194Gly)
c.392C>G (p.Ala131Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716468C>TCA377450203LDB3n.515-2259C>T
c.1184C>T (p.Ala395Val)
c.1232C>T (p.Ala411Val)
c.1373C>T (p.Ala458Val)
c.1043C>T (p.Ala348Val)
c.1388C>T (p.Ala463Val)
c.1625C>T (p.Ala542Val)
c.1577C>T (p.Ala526Val)
c.1436C>T (p.Ala479Val)
c.1421C>T (p.Ala474Val)
c.1280C>T (p.Ala427Val)
c.1091C>T (p.Ala364Val)
c.1076C>T (p.Ala359Val)
c.581C>T (p.Ala194Val)
c.392C>T (p.Ala131Val)
 gnomAD v4 COSMIC COSMIC
10g.86716469A=CA1925631887LDB3n.515-2258A=
c.1185A= (p.Ala395=)
c.1233A= (p.Ala411=)
c.1374A= (p.Ala458=)
c.1044A= (p.Ala348=)
c.1389A= (p.Ala463=)
c.1626A= (p.Ala542=)
c.1578A= (p.Ala526=)
c.1437A= (p.Ala479=)
c.1422A= (p.Ala474=)
c.1281A= (p.Ala427=)
c.1092A= (p.Ala364=)
c.1077A= (p.Ala359=)
c.582A= (p.Ala194=)
c.393A= (p.Ala131=)
10g.86716469A>CCA5585145LDB3n.515-2258A>C
c.1185A>C (p.Ala395=)
c.1233A>C (p.Ala411=)
c.1374A>C (p.Ala458=)
c.1044A>C (p.Ala348=)
c.1389A>C (p.Ala463=)
c.1626A>C (p.Ala542=)
c.1578A>C (p.Ala526=)
c.1437A>C (p.Ala479=)
c.1422A>C (p.Ala474=)
c.1281A>C (p.Ala427=)
c.1092A>C (p.Ala364=)
c.1077A>C (p.Ala359=)
c.582A>C (p.Ala194=)
c.393A>C (p.Ala131=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716469A>GCA470375051LDB3n.515-2258A>G
c.1185A>G (p.Ala395=)
c.1233A>G (p.Ala411=)
c.1374A>G (p.Ala458=)
c.1044A>G (p.Ala348=)
c.1389A>G (p.Ala463=)
c.1626A>G (p.Ala542=)
c.1578A>G (p.Ala526=)
c.1437A>G (p.Ala479=)
c.1422A>G (p.Ala474=)
c.1281A>G (p.Ala427=)
c.1092A>G (p.Ala364=)
c.1077A>G (p.Ala359=)
c.582A>G (p.Ala194=)
c.393A>G (p.Ala131=)
 ClinVar
10g.86716469A>TCA470375048LDB3n.515-2258A>T
c.1185A>T (p.Ala395=)
c.1233A>T (p.Ala411=)
c.1374A>T (p.Ala458=)
c.1044A>T (p.Ala348=)
c.1389A>T (p.Ala463=)
c.1626A>T (p.Ala542=)
c.1578A>T (p.Ala526=)
c.1437A>T (p.Ala479=)
c.1422A>T (p.Ala474=)
c.1281A>T (p.Ala427=)
c.1092A>T (p.Ala364=)
c.1077A>T (p.Ala359=)
c.582A>T (p.Ala194=)
c.393A>T (p.Ala131=)
10g.86716470C>ACA377450212LDB3n.515-2257C>A
c.1186C>A (p.Pro396Thr)
c.1234C>A (p.Pro412Thr)
c.1375C>A (p.Pro459Thr)
c.1045C>A (p.Pro349Thr)
c.1390C>A (p.Pro464Thr)
c.1627C>A (p.Pro543Thr)
c.1579C>A (p.Pro527Thr)
c.1438C>A (p.Pro480Thr)
c.1423C>A (p.Pro475Thr)
c.1282C>A (p.Pro428Thr)
c.1093C>A (p.Pro365Thr)
c.1078C>A (p.Pro360Thr)
c.583C>A (p.Pro195Thr)
c.394C>A (p.Pro132Thr)
10g.86716470C>GCA377450214LDB3n.515-2257C>G
c.1186C>G (p.Pro396Ala)
c.1234C>G (p.Pro412Ala)
c.1375C>G (p.Pro459Ala)
c.1045C>G (p.Pro349Ala)
c.1390C>G (p.Pro464Ala)
c.1627C>G (p.Pro543Ala)
c.1579C>G (p.Pro527Ala)
c.1438C>G (p.Pro480Ala)
c.1423C>G (p.Pro475Ala)
c.1282C>G (p.Pro428Ala)
c.1093C>G (p.Pro365Ala)
c.1078C>G (p.Pro360Ala)
c.583C>G (p.Pro195Ala)
c.394C>G (p.Pro132Ala)
10g.86716470C>TCA377450215LDB3n.515-2257C>T
c.1186C>T (p.Pro396Ser)
c.1234C>T (p.Pro412Ser)
c.1375C>T (p.Pro459Ser)
c.1045C>T (p.Pro349Ser)
c.1390C>T (p.Pro464Ser)
c.1627C>T (p.Pro543Ser)
c.1579C>T (p.Pro527Ser)
c.1438C>T (p.Pro480Ser)
c.1423C>T (p.Pro475Ser)
c.1282C>T (p.Pro428Ser)
c.1093C>T (p.Pro365Ser)
c.1078C>T (p.Pro360Ser)
c.583C>T (p.Pro195Ser)
c.394C>T (p.Pro132Ser)
10g.86716471C>ACA377450226LDB3n.515-2256C>A
c.1187C>A (p.Pro396Gln)
c.1235C>A (p.Pro412Gln)
c.1376C>A (p.Pro459Gln)
c.1046C>A (p.Pro349Gln)
c.1391C>A (p.Pro464Gln)
c.1628C>A (p.Pro543Gln)
c.1580C>A (p.Pro527Gln)
c.1439C>A (p.Pro480Gln)
c.1424C>A (p.Pro475Gln)
c.1283C>A (p.Pro428Gln)
c.1094C>A (p.Pro365Gln)
c.1079C>A (p.Pro360Gln)
c.584C>A (p.Pro195Gln)
c.395C>A (p.Pro132Gln)
10g.86716471C=CA1925631888LDB3n.515-2256C=
c.1187C= (p.Pro396=)
c.1235C= (p.Pro412=)
c.1376C= (p.Pro459=)
c.1046C= (p.Pro349=)
c.1391C= (p.Pro464=)
c.1628C= (p.Pro543=)
c.1580C= (p.Pro527=)
c.1439C= (p.Pro480=)
c.1424C= (p.Pro475=)
c.1283C= (p.Pro428=)
c.1094C= (p.Pro365=)
c.1079C= (p.Pro360=)
c.584C= (p.Pro195=)
c.395C= (p.Pro132=)
10g.86716471C>GCA377450229LDB3n.515-2256C>G
c.1187C>G (p.Pro396Arg)
c.1235C>G (p.Pro412Arg)
c.1376C>G (p.Pro459Arg)
c.1046C>G (p.Pro349Arg)
c.1391C>G (p.Pro464Arg)
c.1628C>G (p.Pro543Arg)
c.1580C>G (p.Pro527Arg)
c.1439C>G (p.Pro480Arg)
c.1424C>G (p.Pro475Arg)
c.1283C>G (p.Pro428Arg)
c.1094C>G (p.Pro365Arg)
c.1079C>G (p.Pro360Arg)
c.584C>G (p.Pro195Arg)
c.395C>G (p.Pro132Arg)
10g.86716471C>TCA377450219LDB3n.515-2256C>T
c.1187C>T (p.Pro396Leu)
c.1235C>T (p.Pro412Leu)
c.1376C>T (p.Pro459Leu)
c.1046C>T (p.Pro349Leu)
c.1391C>T (p.Pro464Leu)
c.1628C>T (p.Pro543Leu)
c.1580C>T (p.Pro527Leu)
c.1439C>T (p.Pro480Leu)
c.1424C>T (p.Pro475Leu)
c.1283C>T (p.Pro428Leu)
c.1094C>T (p.Pro365Leu)
c.1079C>T (p.Pro360Leu)
c.584C>T (p.Pro195Leu)
c.395C>T (p.Pro132Leu)
 dbSNP gnomAD v4
10g.86716472A=CA1925631889LDB3n.515-2255A=
c.1188A= (p.Pro396=)
c.1236A= (p.Pro412=)
c.1377A= (p.Pro459=)
c.1047A= (p.Pro349=)
c.1392A= (p.Pro464=)
c.1629A= (p.Pro543=)
c.1581A= (p.Pro527=)
c.1440A= (p.Pro480=)
c.1425A= (p.Pro475=)
c.1284A= (p.Pro428=)
c.1095A= (p.Pro365=)
c.1080A= (p.Pro360=)
c.585A= (p.Pro195=)
c.396A= (p.Pro132=)
10g.86716472A>CCA470375066LDB3n.515-2255A>C
c.1188A>C (p.Pro396=)
c.1236A>C (p.Pro412=)
c.1377A>C (p.Pro459=)
c.1047A>C (p.Pro349=)
c.1392A>C (p.Pro464=)
c.1629A>C (p.Pro543=)
c.1581A>C (p.Pro527=)
c.1440A>C (p.Pro480=)
c.1425A>C (p.Pro475=)
c.1284A>C (p.Pro428=)
c.1095A>C (p.Pro365=)
c.1080A>C (p.Pro360=)
c.585A>C (p.Pro195=)
c.396A>C (p.Pro132=)
 dbSNP gnomAD v2
10g.86716472A>GCA470375061LDB3n.515-2255A>G
c.1188A>G (p.Pro396=)
c.1236A>G (p.Pro412=)
c.1377A>G (p.Pro459=)
c.1047A>G (p.Pro349=)
c.1392A>G (p.Pro464=)
c.1629A>G (p.Pro543=)
c.1581A>G (p.Pro527=)
c.1440A>G (p.Pro480=)
c.1425A>G (p.Pro475=)
c.1284A>G (p.Pro428=)
c.1095A>G (p.Pro365=)
c.1080A>G (p.Pro360=)
c.585A>G (p.Pro195=)
c.396A>G (p.Pro132=)
10g.86716472A>TCA470375063LDB3n.515-2255A>T
c.1188A>T (p.Pro396=)
c.1236A>T (p.Pro412=)
c.1377A>T (p.Pro459=)
c.1047A>T (p.Pro349=)
c.1392A>T (p.Pro464=)
c.1629A>T (p.Pro543=)
c.1581A>T (p.Pro527=)
c.1440A>T (p.Pro480=)
c.1425A>T (p.Pro475=)
c.1284A>T (p.Pro428=)
c.1095A>T (p.Pro365=)
c.1080A>T (p.Pro360=)
c.585A>T (p.Pro195=)
c.396A>T (p.Pro132=)
10g.86716473G>ACA377450236LDB3n.515-2254G>A
c.1189G>A (p.Ala397Thr)
c.1237G>A (p.Ala413Thr)
c.1378G>A (p.Ala460Thr)
c.1048G>A (p.Ala350Thr)
c.1393G>A (p.Ala465Thr)
c.1630G>A (p.Ala544Thr)
c.1582G>A (p.Ala528Thr)
c.1441G>A (p.Ala481Thr)
c.1426G>A (p.Ala476Thr)
c.1285G>A (p.Ala429Thr)
c.1096G>A (p.Ala366Thr)
c.1081G>A (p.Ala361Thr)
c.586G>A (p.Ala196Thr)
c.397G>A (p.Ala133Thr)
10g.86716473G>CCA377450241LDB3n.515-2254G>C
c.1189G>C (p.Ala397Pro)
c.1237G>C (p.Ala413Pro)
c.1378G>C (p.Ala460Pro)
c.1048G>C (p.Ala350Pro)
c.1393G>C (p.Ala465Pro)
c.1630G>C (p.Ala544Pro)
c.1582G>C (p.Ala528Pro)
c.1441G>C (p.Ala481Pro)
c.1426G>C (p.Ala476Pro)
c.1285G>C (p.Ala429Pro)
c.1096G>C (p.Ala366Pro)
c.1081G>C (p.Ala361Pro)
c.586G>C (p.Ala196Pro)
c.397G>C (p.Ala133Pro)
 dbSNP gnomAD v2
10g.86716473G=CA1925631890LDB3n.515-2254G=
c.1189G= (p.Ala397=)
c.1237G= (p.Ala413=)
c.1378G= (p.Ala460=)
c.1048G= (p.Ala350=)
c.1393G= (p.Ala465=)
c.1630G= (p.Ala544=)
c.1582G= (p.Ala528=)
c.1441G= (p.Ala481=)
c.1426G= (p.Ala476=)
c.1285G= (p.Ala429=)
c.1096G= (p.Ala366=)
c.1081G= (p.Ala361=)
c.586G= (p.Ala196=)
c.397G= (p.Ala133=)
10g.86716473G>TCA377450244LDB3n.515-2254G>T
c.1189G>T (p.Ala397Ser)
c.1237G>T (p.Ala413Ser)
c.1378G>T (p.Ala460Ser)
c.1048G>T (p.Ala350Ser)
c.1393G>T (p.Ala465Ser)
c.1630G>T (p.Ala544Ser)
c.1582G>T (p.Ala528Ser)
c.1441G>T (p.Ala481Ser)
c.1426G>T (p.Ala476Ser)
c.1285G>T (p.Ala429Ser)
c.1096G>T (p.Ala366Ser)
c.1081G>T (p.Ala361Ser)
c.586G>T (p.Ala196Ser)
c.397G>T (p.Ala133Ser)
10g.86716474C>ACA377450246LDB3n.515-2253C>A
c.1190C>A (p.Ala397Asp)
c.1238C>A (p.Ala413Asp)
c.1379C>A (p.Ala460Asp)
c.1049C>A (p.Ala350Asp)
c.1394C>A (p.Ala465Asp)
c.1631C>A (p.Ala544Asp)
c.1583C>A (p.Ala528Asp)
c.1442C>A (p.Ala481Asp)
c.1427C>A (p.Ala476Asp)
c.1286C>A (p.Ala429Asp)
c.1097C>A (p.Ala366Asp)
c.1082C>A (p.Ala361Asp)
c.587C>A (p.Ala196Asp)
c.398C>A (p.Ala133Asp)
 gnomAD v4
10g.86716474C=CA1925631891LDB3n.515-2253C=
c.1190C= (p.Ala397=)
c.1238C= (p.Ala413=)
c.1379C= (p.Ala460=)
c.1049C= (p.Ala350=)
c.1394C= (p.Ala465=)
c.1631C= (p.Ala544=)
c.1583C= (p.Ala528=)
c.1442C= (p.Ala481=)
c.1427C= (p.Ala476=)
c.1286C= (p.Ala429=)
c.1097C= (p.Ala366=)
c.1082C= (p.Ala361=)
c.587C= (p.Ala196=)
c.398C= (p.Ala133=)
10g.86716474C>GCA377450260LDB3n.515-2253C>G
c.1190C>G (p.Ala397Gly)
c.1238C>G (p.Ala413Gly)
c.1379C>G (p.Ala460Gly)
c.1049C>G (p.Ala350Gly)
c.1394C>G (p.Ala465Gly)
c.1631C>G (p.Ala544Gly)
c.1583C>G (p.Ala528Gly)
c.1442C>G (p.Ala481Gly)
c.1427C>G (p.Ala476Gly)
c.1286C>G (p.Ala429Gly)
c.1097C>G (p.Ala366Gly)
c.1082C>G (p.Ala361Gly)
c.587C>G (p.Ala196Gly)
c.398C>G (p.Ala133Gly)
 gnomAD v4
10g.86716474C>TCA5585146LDB3n.515-2253C>T
c.1190C>T (p.Ala397Val)
c.1238C>T (p.Ala413Val)
c.1379C>T (p.Ala460Val)
c.1049C>T (p.Ala350Val)
c.1394C>T (p.Ala465Val)
c.1631C>T (p.Ala544Val)
c.1583C>T (p.Ala528Val)
c.1442C>T (p.Ala481Val)
c.1427C>T (p.Ala476Val)
c.1286C>T (p.Ala429Val)
c.1097C>T (p.Ala366Val)
c.1082C>T (p.Ala361Val)
c.587C>T (p.Ala196Val)
c.398C>T (p.Ala133Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716475C>ACA470375076LDB3n.515-2252C>A
c.1191C>A (p.Ala397=)
c.1239C>A (p.Ala413=)
c.1380C>A (p.Ala460=)
c.1050C>A (p.Ala350=)
c.1395C>A (p.Ala465=)
c.1632C>A (p.Ala544=)
c.1584C>A (p.Ala528=)
c.1443C>A (p.Ala481=)
c.1428C>A (p.Ala476=)
c.1287C>A (p.Ala429=)
c.1098C>A (p.Ala366=)
c.1083C>A (p.Ala361=)
c.588C>A (p.Ala196=)
c.399C>A (p.Ala133=)
10g.86716475C>GCA470375078LDB3n.515-2252C>G
c.1191C>G (p.Ala397=)
c.1239C>G (p.Ala413=)
c.1380C>G (p.Ala460=)
c.1050C>G (p.Ala350=)
c.1395C>G (p.Ala465=)
c.1632C>G (p.Ala544=)
c.1584C>G (p.Ala528=)
c.1443C>G (p.Ala481=)
c.1428C>G (p.Ala476=)
c.1287C>G (p.Ala429=)
c.1098C>G (p.Ala366=)
c.1083C>G (p.Ala361=)
c.588C>G (p.Ala196=)
c.399C>G (p.Ala133=)
10g.86716475C>TCA470375074LDB3n.515-2252C>T
c.1191C>T (p.Ala397=)
c.1239C>T (p.Ala413=)
c.1380C>T (p.Ala460=)
c.1050C>T (p.Ala350=)
c.1395C>T (p.Ala465=)
c.1632C>T (p.Ala544=)
c.1584C>T (p.Ala528=)
c.1443C>T (p.Ala481=)
c.1428C>T (p.Ala476=)
c.1287C>T (p.Ala429=)
c.1098C>T (p.Ala366=)
c.1083C>T (p.Ala361=)
c.588C>T (p.Ala196=)
c.399C>T (p.Ala133=)
10g.86716476T>ACA377450264LDB3n.515-2251T>A
c.1192T>A (p.Tyr398Asn)
c.1240T>A (p.Tyr414Asn)
c.1381T>A (p.Tyr461Asn)
c.1051T>A (p.Tyr351Asn)
c.1396T>A (p.Tyr466Asn)
c.1633T>A (p.Tyr545Asn)
c.1585T>A (p.Tyr529Asn)
c.1444T>A (p.Tyr482Asn)
c.1429T>A (p.Tyr477Asn)
c.1288T>A (p.Tyr430Asn)
c.1099T>A (p.Tyr367Asn)
c.1084T>A (p.Tyr362Asn)
c.589T>A (p.Tyr197Asn)
c.400T>A (p.Tyr134Asn)
10g.86716476T>CCA377450263LDB3n.515-2251T>C
c.1192T>C (p.Tyr398His)
c.1240T>C (p.Tyr414His)
c.1381T>C (p.Tyr461His)
c.1051T>C (p.Tyr351His)
c.1396T>C (p.Tyr466His)
c.1633T>C (p.Tyr545His)
c.1585T>C (p.Tyr529His)
c.1444T>C (p.Tyr482His)
c.1429T>C (p.Tyr477His)
c.1288T>C (p.Tyr430His)
c.1099T>C (p.Tyr367His)
c.1084T>C (p.Tyr362His)
c.589T>C (p.Tyr197His)
c.400T>C (p.Tyr134His)
 dbSNP gnomAD v4
10g.86716476T>GCA5585147LDB3n.515-2251T>G
c.1192T>G (p.Tyr398Asp)
c.1240T>G (p.Tyr414Asp)
c.1381T>G (p.Tyr461Asp)
c.1051T>G (p.Tyr351Asp)
c.1396T>G (p.Tyr466Asp)
c.1633T>G (p.Tyr545Asp)
c.1585T>G (p.Tyr529Asp)
c.1444T>G (p.Tyr482Asp)
c.1429T>G (p.Tyr477Asp)
c.1288T>G (p.Tyr430Asp)
c.1099T>G (p.Tyr367Asp)
c.1084T>G (p.Tyr362Asp)
c.589T>G (p.Tyr197Asp)
c.400T>G (p.Tyr134Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716476T=CA1925631892LDB3n.515-2251T=
c.1192T= (p.Tyr398=)
c.1240T= (p.Tyr414=)
c.1381T= (p.Tyr461=)
c.1051T= (p.Tyr351=)
c.1396T= (p.Tyr466=)
c.1633T= (p.Tyr545=)
c.1585T= (p.Tyr529=)
c.1444T= (p.Tyr482=)
c.1429T= (p.Tyr477=)
c.1288T= (p.Tyr430=)
c.1099T= (p.Tyr367=)
c.1084T= (p.Tyr362=)
c.589T= (p.Tyr197=)
c.400T= (p.Tyr134=)
10g.86716477A=CA1925631893LDB3n.515-2250A=
c.1193A= (p.Tyr398=)
c.1241A= (p.Tyr414=)
c.1382A= (p.Tyr461=)
c.1052A= (p.Tyr351=)
c.1397A= (p.Tyr466=)
c.1634A= (p.Tyr545=)
c.1586A= (p.Tyr529=)
c.1445A= (p.Tyr482=)
c.1430A= (p.Tyr477=)
c.1289A= (p.Tyr430=)
c.1100A= (p.Tyr367=)
c.1085A= (p.Tyr362=)
c.590A= (p.Tyr197=)
c.401A= (p.Tyr134=)
10g.86716477A>CCA5585148LDB3n.515-2250A>C
c.1193A>C (p.Tyr398Ser)
c.1241A>C (p.Tyr414Ser)
c.1382A>C (p.Tyr461Ser)
c.1052A>C (p.Tyr351Ser)
c.1397A>C (p.Tyr466Ser)
c.1634A>C (p.Tyr545Ser)
c.1586A>C (p.Tyr529Ser)
c.1445A>C (p.Tyr482Ser)
c.1430A>C (p.Tyr477Ser)
c.1289A>C (p.Tyr430Ser)
c.1100A>C (p.Tyr367Ser)
c.1085A>C (p.Tyr362Ser)
c.590A>C (p.Tyr197Ser)
c.401A>C (p.Tyr134Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716477A>GCA377450266LDB3n.515-2250A>G
c.1193A>G (p.Tyr398Cys)
c.1241A>G (p.Tyr414Cys)
c.1382A>G (p.Tyr461Cys)
c.1052A>G (p.Tyr351Cys)
c.1397A>G (p.Tyr466Cys)
c.1634A>G (p.Tyr545Cys)
c.1586A>G (p.Tyr529Cys)
c.1445A>G (p.Tyr482Cys)
c.1430A>G (p.Tyr477Cys)
c.1289A>G (p.Tyr430Cys)
c.1100A>G (p.Tyr367Cys)
c.1085A>G (p.Tyr362Cys)
c.590A>G (p.Tyr197Cys)
c.401A>G (p.Tyr134Cys)
10g.86716477A>TCA377450269LDB3n.515-2250A>T
c.1193A>T (p.Tyr398Phe)
c.1241A>T (p.Tyr414Phe)
c.1382A>T (p.Tyr461Phe)
c.1052A>T (p.Tyr351Phe)
c.1397A>T (p.Tyr466Phe)
c.1634A>T (p.Tyr545Phe)
c.1586A>T (p.Tyr529Phe)
c.1445A>T (p.Tyr482Phe)
c.1430A>T (p.Tyr477Phe)
c.1289A>T (p.Tyr430Phe)
c.1100A>T (p.Tyr367Phe)
c.1085A>T (p.Tyr362Phe)
c.590A>T (p.Tyr197Phe)
c.401A>T (p.Tyr134Phe)
 gnomAD v4
10g.86716478T>ACA377450273LDB3n.515-2249T>A
c.1194T>A (p.Tyr398Ter)
c.1242T>A (p.Tyr414Ter)
c.1383T>A (p.Tyr461Ter)
c.1053T>A (p.Tyr351Ter)
c.1398T>A (p.Tyr466Ter)
c.1635T>A (p.Tyr545Ter)
c.1587T>A (p.Tyr529Ter)
c.1446T>A (p.Tyr482Ter)
c.1431T>A (p.Tyr477Ter)
c.1290T>A (p.Tyr430Ter)
c.1101T>A (p.Tyr367Ter)
c.1086T>A (p.Tyr362Ter)
c.591T>A (p.Tyr197Ter)
c.402T>A (p.Tyr134Ter)
10g.86716478T>CCA470375084LDB3n.515-2249T>C
c.1194T>C (p.Tyr398=)
c.1242T>C (p.Tyr414=)
c.1383T>C (p.Tyr461=)
c.1053T>C (p.Tyr351=)
c.1398T>C (p.Tyr466=)
c.1635T>C (p.Tyr545=)
c.1587T>C (p.Tyr529=)
c.1446T>C (p.Tyr482=)
c.1431T>C (p.Tyr477=)
c.1290T>C (p.Tyr430=)
c.1101T>C (p.Tyr367=)
c.1086T>C (p.Tyr362=)
c.591T>C (p.Tyr197=)
c.402T>C (p.Tyr134=)
 dbSNP
10g.86716478T>GCA377450275LDB3n.515-2249T>G
c.1194T>G (p.Tyr398Ter)
c.1242T>G (p.Tyr414Ter)
c.1383T>G (p.Tyr461Ter)
c.1053T>G (p.Tyr351Ter)
c.1398T>G (p.Tyr466Ter)
c.1635T>G (p.Tyr545Ter)
c.1587T>G (p.Tyr529Ter)
c.1446T>G (p.Tyr482Ter)
c.1431T>G (p.Tyr477Ter)
c.1290T>G (p.Tyr430Ter)
c.1101T>G (p.Tyr367Ter)
c.1086T>G (p.Tyr362Ter)
c.591T>G (p.Tyr197Ter)
c.402T>G (p.Tyr134Ter)
10g.86716478T=CA1925631894LDB3n.515-2249T=
c.1194T= (p.Tyr398=)
c.1242T= (p.Tyr414=)
c.1383T= (p.Tyr461=)
c.1053T= (p.Tyr351=)
c.1398T= (p.Tyr466=)
c.1635T= (p.Tyr545=)
c.1587T= (p.Tyr529=)
c.1446T= (p.Tyr482=)
c.1431T= (p.Tyr477=)
c.1290T= (p.Tyr430=)
c.1101T= (p.Tyr367=)
c.1086T= (p.Tyr362=)
c.591T= (p.Tyr197=)
c.402T= (p.Tyr134=)
10g.86716479A>CCA377450276LDB3n.515-2248A>C
c.1195A>C (p.Thr399Pro)
c.1243A>C (p.Thr415Pro)
c.1384A>C (p.Thr462Pro)
c.1054A>C (p.Thr352Pro)
c.1399A>C (p.Thr467Pro)
c.1636A>C (p.Thr546Pro)
c.1588A>C (p.Thr530Pro)
c.1447A>C (p.Thr483Pro)
c.1432A>C (p.Thr478Pro)
c.1291A>C (p.Thr431Pro)
c.1102A>C (p.Thr368Pro)
c.1087A>C (p.Thr363Pro)
c.592A>C (p.Thr198Pro)
c.403A>C (p.Thr135Pro)
10g.86716479A>GCA377450282LDB3n.515-2248A>G
c.1195A>G (p.Thr399Ala)
c.1243A>G (p.Thr415Ala)
c.1384A>G (p.Thr462Ala)
c.1054A>G (p.Thr352Ala)
c.1399A>G (p.Thr467Ala)
c.1636A>G (p.Thr546Ala)
c.1588A>G (p.Thr530Ala)
c.1447A>G (p.Thr483Ala)
c.1432A>G (p.Thr478Ala)
c.1291A>G (p.Thr431Ala)
c.1102A>G (p.Thr368Ala)
c.1087A>G (p.Thr363Ala)
c.592A>G (p.Thr198Ala)
c.403A>G (p.Thr135Ala)
10g.86716479A>TCA377450278LDB3n.515-2248A>T
c.1195A>T (p.Thr399Ser)
c.1243A>T (p.Thr415Ser)
c.1384A>T (p.Thr462Ser)
c.1054A>T (p.Thr352Ser)
c.1399A>T (p.Thr467Ser)
c.1636A>T (p.Thr546Ser)
c.1588A>T (p.Thr530Ser)
c.1447A>T (p.Thr483Ser)
c.1432A>T (p.Thr478Ser)
c.1291A>T (p.Thr431Ser)
c.1102A>T (p.Thr368Ser)
c.1087A>T (p.Thr363Ser)
c.592A>T (p.Thr198Ser)
c.403A>T (p.Thr135Ser)
10g.86716480C>ACA377450294LDB3n.515-2247C>A
c.1196C>A (p.Thr399Asn)
c.1244C>A (p.Thr415Asn)
c.1385C>A (p.Thr462Asn)
c.1055C>A (p.Thr352Asn)
c.1400C>A (p.Thr467Asn)
c.1637C>A (p.Thr546Asn)
c.1589C>A (p.Thr530Asn)
c.1448C>A (p.Thr483Asn)
c.1433C>A (p.Thr478Asn)
c.1292C>A (p.Thr431Asn)
c.1103C>A (p.Thr368Asn)
c.1088C>A (p.Thr363Asn)
c.593C>A (p.Thr198Asn)
c.404C>A (p.Thr135Asn)
 ClinVar
10g.86716480C=CA1925631895LDB3n.515-2247C=
c.1196C= (p.Thr399=)
c.1244C= (p.Thr415=)
c.1385C= (p.Thr462=)
c.1055C= (p.Thr352=)
c.1400C= (p.Thr467=)
c.1637C= (p.Thr546=)
c.1589C= (p.Thr530=)
c.1448C= (p.Thr483=)
c.1433C= (p.Thr478=)
c.1292C= (p.Thr431=)
c.1103C= (p.Thr368=)
c.1088C= (p.Thr363=)
c.593C= (p.Thr198=)
c.404C= (p.Thr135=)
10g.86716480C>GCA377450309LDB3n.515-2247C>G
c.1196C>G (p.Thr399Ser)
c.1244C>G (p.Thr415Ser)
c.1385C>G (p.Thr462Ser)
c.1055C>G (p.Thr352Ser)
c.1400C>G (p.Thr467Ser)
c.1637C>G (p.Thr546Ser)
c.1589C>G (p.Thr530Ser)
c.1448C>G (p.Thr483Ser)
c.1433C>G (p.Thr478Ser)
c.1292C>G (p.Thr431Ser)
c.1103C>G (p.Thr368Ser)
c.1088C>G (p.Thr363Ser)
c.593C>G (p.Thr198Ser)
c.404C>G (p.Thr135Ser)
10g.86716480C>TCA5585149LDB3n.515-2247C>T
c.1196C>T (p.Thr399Ile)
c.1244C>T (p.Thr415Ile)
c.1385C>T (p.Thr462Ile)
c.1055C>T (p.Thr352Ile)
c.1400C>T (p.Thr467Ile)
c.1637C>T (p.Thr546Ile)
c.1589C>T (p.Thr530Ile)
c.1448C>T (p.Thr483Ile)
c.1433C>T (p.Thr478Ile)
c.1292C>T (p.Thr431Ile)
c.1103C>T (p.Thr368Ile)
c.1088C>T (p.Thr363Ile)
c.593C>T (p.Thr198Ile)
c.404C>T (p.Thr135Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716481C>ACA470375092LDB3n.515-2246C>A
c.1197C>A (p.Thr399=)
c.1245C>A (p.Thr415=)
c.1386C>A (p.Thr462=)
c.1056C>A (p.Thr352=)
c.1401C>A (p.Thr467=)
c.1638C>A (p.Thr546=)
c.1590C>A (p.Thr530=)
c.1449C>A (p.Thr483=)
c.1434C>A (p.Thr478=)
c.1293C>A (p.Thr431=)
c.1104C>A (p.Thr368=)
c.1089C>A (p.Thr363=)
c.594C>A (p.Thr198=)
c.405C>A (p.Thr135=)
 dbSNP gnomAD v3 gnomAD v4
10g.86716481C=CA1925631896LDB3n.515-2246C=
c.1197C= (p.Thr399=)
c.1245C= (p.Thr415=)
c.1386C= (p.Thr462=)
c.1056C= (p.Thr352=)
c.1401C= (p.Thr467=)
c.1638C= (p.Thr546=)
c.1590C= (p.Thr530=)
c.1449C= (p.Thr483=)
c.1434C= (p.Thr478=)
c.1293C= (p.Thr431=)
c.1104C= (p.Thr368=)
c.1089C= (p.Thr363=)
c.594C= (p.Thr198=)
c.405C= (p.Thr135=)
10g.86716481C>GCA470375095LDB3n.515-2246C>G
c.1197C>G (p.Thr399=)
c.1245C>G (p.Thr415=)
c.1386C>G (p.Thr462=)
c.1056C>G (p.Thr352=)
c.1401C>G (p.Thr467=)
c.1638C>G (p.Thr546=)
c.1590C>G (p.Thr530=)
c.1449C>G (p.Thr483=)
c.1434C>G (p.Thr478=)
c.1293C>G (p.Thr431=)
c.1104C>G (p.Thr368=)
c.1089C>G (p.Thr363=)
c.594C>G (p.Thr198=)
c.405C>G (p.Thr135=)
10g.86716481C>TCA5585150LDB3n.515-2246C>T
c.1197C>T (p.Thr399=)
c.1245C>T (p.Thr415=)
c.1386C>T (p.Thr462=)
c.1056C>T (p.Thr352=)
c.1401C>T (p.Thr467=)
c.1638C>T (p.Thr546=)
c.1590C>T (p.Thr530=)
c.1449C>T (p.Thr483=)
c.1434C>T (p.Thr478=)
c.1293C>T (p.Thr431=)
c.1104C>T (p.Thr368=)
c.1089C>T (p.Thr363=)
c.594C>T (p.Thr198=)
c.405C>T (p.Thr135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716482C>ACA377450321LDB3n.515-2245C>A
c.1198C>A (p.Pro400Thr)
c.1246C>A (p.Pro416Thr)
c.1387C>A (p.Pro463Thr)
c.1057C>A (p.Pro353Thr)
c.1402C>A (p.Pro468Thr)
c.1639C>A (p.Pro547Thr)
c.1591C>A (p.Pro531Thr)
c.1450C>A (p.Pro484Thr)
c.1435C>A (p.Pro479Thr)
c.1294C>A (p.Pro432Thr)
c.1105C>A (p.Pro369Thr)
c.1090C>A (p.Pro364Thr)
c.595C>A (p.Pro199Thr)
c.406C>A (p.Pro136Thr)
10g.86716482C>GCA377450323LDB3n.515-2245C>G
c.1198C>G (p.Pro400Ala)
c.1246C>G (p.Pro416Ala)
c.1387C>G (p.Pro463Ala)
c.1057C>G (p.Pro353Ala)
c.1402C>G (p.Pro468Ala)
c.1639C>G (p.Pro547Ala)
c.1591C>G (p.Pro531Ala)
c.1450C>G (p.Pro484Ala)
c.1435C>G (p.Pro479Ala)
c.1294C>G (p.Pro432Ala)
c.1105C>G (p.Pro369Ala)
c.1090C>G (p.Pro364Ala)
c.595C>G (p.Pro199Ala)
c.406C>G (p.Pro136Ala)
10g.86716482C>TCA377450326LDB3n.515-2245C>T
c.1198C>T (p.Pro400Ser)
c.1246C>T (p.Pro416Ser)
c.1387C>T (p.Pro463Ser)
c.1057C>T (p.Pro353Ser)
c.1402C>T (p.Pro468Ser)
c.1639C>T (p.Pro547Ser)
c.1591C>T (p.Pro531Ser)
c.1450C>T (p.Pro484Ser)
c.1435C>T (p.Pro479Ser)
c.1294C>T (p.Pro432Ser)
c.1105C>T (p.Pro369Ser)
c.1090C>T (p.Pro364Ser)
c.595C>T (p.Pro199Ser)
c.406C>T (p.Pro136Ser)
 ClinVar gnomAD v4
10g.86716483C>ACA211205268LDB3n.515-2244C>A
c.1199C>A (p.Pro400His)
c.1247C>A (p.Pro416His)
c.1388C>A (p.Pro463His)
c.1058C>A (p.Pro353His)
c.1403C>A (p.Pro468His)
c.1640C>A (p.Pro547His)
c.1592C>A (p.Pro531His)
c.1451C>A (p.Pro484His)
c.1436C>A (p.Pro479His)
c.1295C>A (p.Pro432His)
c.1106C>A (p.Pro369His)
c.1091C>A (p.Pro364His)
c.596C>A (p.Pro199His)
c.407C>A (p.Pro136His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716483C=CA1925631897LDB3n.515-2244C=
c.1199C= (p.Pro400=)
c.1247C= (p.Pro416=)
c.1388C= (p.Pro463=)
c.1058C= (p.Pro353=)
c.1403C= (p.Pro468=)
c.1640C= (p.Pro547=)
c.1592C= (p.Pro531=)
c.1451C= (p.Pro484=)
c.1436C= (p.Pro479=)
c.1295C= (p.Pro432=)
c.1106C= (p.Pro369=)
c.1091C= (p.Pro364=)
c.596C= (p.Pro199=)
c.407C= (p.Pro136=)
10g.86716483C>GCA377450329LDB3n.515-2244C>G
c.1199C>G (p.Pro400Arg)
c.1247C>G (p.Pro416Arg)
c.1388C>G (p.Pro463Arg)
c.1058C>G (p.Pro353Arg)
c.1403C>G (p.Pro468Arg)
c.1640C>G (p.Pro547Arg)
c.1592C>G (p.Pro531Arg)
c.1451C>G (p.Pro484Arg)
c.1436C>G (p.Pro479Arg)
c.1295C>G (p.Pro432Arg)
c.1106C>G (p.Pro369Arg)
c.1091C>G (p.Pro364Arg)
c.596C>G (p.Pro199Arg)
c.407C>G (p.Pro136Arg)
10g.86716483C>TCA377450331LDB3n.515-2244C>T
c.1199C>T (p.Pro400Leu)
c.1247C>T (p.Pro416Leu)
c.1388C>T (p.Pro463Leu)
c.1058C>T (p.Pro353Leu)
c.1403C>T (p.Pro468Leu)
c.1640C>T (p.Pro547Leu)
c.1592C>T (p.Pro531Leu)
c.1451C>T (p.Pro484Leu)
c.1436C>T (p.Pro479Leu)
c.1295C>T (p.Pro432Leu)
c.1106C>T (p.Pro369Leu)
c.1091C>T (p.Pro364Leu)
c.596C>T (p.Pro199Leu)
c.407C>T (p.Pro136Leu)
 ClinVar dbSNP gnomAD v4
10g.86716484C>ACA470375104LDB3n.515-2243C>A
c.1200C>A (p.Pro400=)
c.1248C>A (p.Pro416=)
c.1389C>A (p.Pro463=)
c.1059C>A (p.Pro353=)
c.1404C>A (p.Pro468=)
c.1641C>A (p.Pro547=)
c.1593C>A (p.Pro531=)
c.1452C>A (p.Pro484=)
c.1437C>A (p.Pro479=)
c.1296C>A (p.Pro432=)
c.1107C>A (p.Pro369=)
c.1092C>A (p.Pro364=)
c.597C>A (p.Pro199=)
c.408C>A (p.Pro136=)
10g.86716484C>GCA470375106LDB3n.515-2243C>G
c.1200C>G (p.Pro400=)
c.1248C>G (p.Pro416=)
c.1389C>G (p.Pro463=)
c.1059C>G (p.Pro353=)
c.1404C>G (p.Pro468=)
c.1641C>G (p.Pro547=)
c.1593C>G (p.Pro531=)
c.1452C>G (p.Pro484=)
c.1437C>G (p.Pro479=)
c.1296C>G (p.Pro432=)
c.1107C>G (p.Pro369=)
c.1092C>G (p.Pro364=)
c.597C>G (p.Pro199=)
c.408C>G (p.Pro136=)
10g.86716484C>TCA470375108LDB3n.515-2243C>T
c.1200C>T (p.Pro400=)
c.1248C>T (p.Pro416=)
c.1389C>T (p.Pro463=)
c.1059C>T (p.Pro353=)
c.1404C>T (p.Pro468=)
c.1641C>T (p.Pro547=)
c.1593C>T (p.Pro531=)
c.1452C>T (p.Pro484=)
c.1437C>T (p.Pro479=)
c.1296C>T (p.Pro432=)
c.1107C>T (p.Pro369=)
c.1092C>T (p.Pro364=)
c.597C>T (p.Pro199=)
c.408C>T (p.Pro136=)
10g.86716485T>ACA377450333LDB3n.515-2242T>A
c.1201T>A (p.Ser401Thr)
c.1249T>A (p.Ser417Thr)
c.1390T>A (p.Ser464Thr)
c.1060T>A (p.Ser354Thr)
c.1405T>A (p.Ser469Thr)
c.1642T>A (p.Ser548Thr)
c.1594T>A (p.Ser532Thr)
c.1453T>A (p.Ser485Thr)
c.1438T>A (p.Ser480Thr)
c.1297T>A (p.Ser433Thr)
c.1108T>A (p.Ser370Thr)
c.1093T>A (p.Ser365Thr)
c.598T>A (p.Ser200Thr)
c.409T>A (p.Ser137Thr)
10g.86716485T>CCA377450343LDB3n.515-2242T>C
c.1201T>C (p.Ser401Pro)
c.1249T>C (p.Ser417Pro)
c.1390T>C (p.Ser464Pro)
c.1060T>C (p.Ser354Pro)
c.1405T>C (p.Ser469Pro)
c.1642T>C (p.Ser548Pro)
c.1594T>C (p.Ser532Pro)
c.1453T>C (p.Ser485Pro)
c.1438T>C (p.Ser480Pro)
c.1297T>C (p.Ser433Pro)
c.1108T>C (p.Ser370Pro)
c.1093T>C (p.Ser365Pro)
c.598T>C (p.Ser200Pro)
c.409T>C (p.Ser137Pro)
10g.86716485T>GCA377450336LDB3n.515-2242T>G
c.1201T>G (p.Ser401Ala)
c.1249T>G (p.Ser417Ala)
c.1390T>G (p.Ser464Ala)
c.1060T>G (p.Ser354Ala)
c.1405T>G (p.Ser469Ala)
c.1642T>G (p.Ser548Ala)
c.1594T>G (p.Ser532Ala)
c.1453T>G (p.Ser485Ala)
c.1438T>G (p.Ser480Ala)
c.1297T>G (p.Ser433Ala)
c.1108T>G (p.Ser370Ala)
c.1093T>G (p.Ser365Ala)
c.598T>G (p.Ser200Ala)
c.409T>G (p.Ser137Ala)
10g.86716486C>ACA377450344LDB3n.515-2241C>A
c.1202C>A (p.Ser401Ter)
c.1250C>A (p.Ser417Ter)
c.1391C>A (p.Ser464Ter)
c.1061C>A (p.Ser354Ter)
c.1406C>A (p.Ser469Ter)
c.1643C>A (p.Ser548Ter)
c.1595C>A (p.Ser532Ter)
c.1454C>A (p.Ser485Ter)
c.1439C>A (p.Ser480Ter)
c.1298C>A (p.Ser433Ter)
c.1109C>A (p.Ser370Ter)
c.1094C>A (p.Ser365Ter)
c.599C>A (p.Ser200Ter)
c.410C>A (p.Ser137Ter)
10g.86716486C>GCA377450357LDB3n.515-2241C>G
c.1202C>G (p.Ser401Ter)
c.1250C>G (p.Ser417Ter)
c.1391C>G (p.Ser464Ter)
c.1061C>G (p.Ser354Ter)
c.1406C>G (p.Ser469Ter)
c.1643C>G (p.Ser548Ter)
c.1595C>G (p.Ser532Ter)
c.1454C>G (p.Ser485Ter)
c.1439C>G (p.Ser480Ter)
c.1298C>G (p.Ser433Ter)
c.1109C>G (p.Ser370Ter)
c.1094C>G (p.Ser365Ter)
c.599C>G (p.Ser200Ter)
c.410C>G (p.Ser137Ter)
10g.86716486C>TCA377450349LDB3n.515-2241C>T
c.1202C>T (p.Ser401Leu)
c.1250C>T (p.Ser417Leu)
c.1391C>T (p.Ser464Leu)
c.1061C>T (p.Ser354Leu)
c.1406C>T (p.Ser469Leu)
c.1643C>T (p.Ser548Leu)
c.1595C>T (p.Ser532Leu)
c.1454C>T (p.Ser485Leu)
c.1439C>T (p.Ser480Leu)
c.1298C>T (p.Ser433Leu)
c.1109C>T (p.Ser370Leu)
c.1094C>T (p.Ser365Leu)
c.599C>T (p.Ser200Leu)
c.410C>T (p.Ser137Leu)
10g.86716487A>CCA470375115LDB3n.515-2240A>C
c.1203A>C (p.Ser401=)
c.1251A>C (p.Ser417=)
c.1392A>C (p.Ser464=)
c.1062A>C (p.Ser354=)
c.1407A>C (p.Ser469=)
c.1644A>C (p.Ser548=)
c.1596A>C (p.Ser532=)
c.1455A>C (p.Ser485=)
c.1440A>C (p.Ser480=)
c.1299A>C (p.Ser433=)
c.1110A>C (p.Ser370=)
c.1095A>C (p.Ser365=)
c.600A>C (p.Ser200=)
c.411A>C (p.Ser137=)
10g.86716487A>GCA470375117LDB3n.515-2240A>G
c.1203A>G (p.Ser401=)
c.1251A>G (p.Ser417=)
c.1392A>G (p.Ser464=)
c.1062A>G (p.Ser354=)
c.1407A>G (p.Ser469=)
c.1644A>G (p.Ser548=)
c.1596A>G (p.Ser532=)
c.1455A>G (p.Ser485=)
c.1440A>G (p.Ser480=)
c.1299A>G (p.Ser433=)
c.1110A>G (p.Ser370=)
c.1095A>G (p.Ser365=)
c.600A>G (p.Ser200=)
c.411A>G (p.Ser137=)
10g.86716487A>TCA470375119LDB3n.515-2240A>T
c.1203A>T (p.Ser401=)
c.1251A>T (p.Ser417=)
c.1392A>T (p.Ser464=)
c.1062A>T (p.Ser354=)
c.1407A>T (p.Ser469=)
c.1644A>T (p.Ser548=)
c.1596A>T (p.Ser532=)
c.1455A>T (p.Ser485=)
c.1440A>T (p.Ser480=)
c.1299A>T (p.Ser433=)
c.1110A>T (p.Ser370=)
c.1095A>T (p.Ser365=)
c.600A>T (p.Ser200=)
c.411A>T (p.Ser137=)
10g.86716487dupCA2609997582LDB3n.515-2240dup
c.1203dup (p.Pro402ThrfsTer6)
c.1251dup (p.Pro418ThrfsTer6)
c.1392dup (p.Pro465ThrfsTer6)
c.1062dup (p.Pro355ThrfsTer6)
c.1407dup (p.Pro470ThrfsTer6)
c.1644dup (p.Pro549ThrfsTer6)
c.1596dup (p.Pro533ThrfsTer6)
c.1455dup (p.Pro486ThrfsTer6)
c.1440dup (p.Pro481ThrfsTer6)
c.1299dup (p.Pro434ThrfsTer6)
c.1110dup (p.Pro371ThrfsTer6)
c.1095dup (p.Pro366ThrfsTer6)
c.600dup (p.Pro201ThrfsTer6)
c.411dup (p.Pro138ThrfsTer6)
 gnomAD v4
10g.86716488C>ACA377450362LDB3n.515-2239C>A
c.1204C>A (p.Pro402Thr)
c.1252C>A (p.Pro418Thr)
c.1393C>A (p.Pro465Thr)
c.1063C>A (p.Pro355Thr)
c.1408C>A (p.Pro470Thr)
c.1645C>A (p.Pro549Thr)
c.1597C>A (p.Pro533Thr)
c.1456C>A (p.Pro486Thr)
c.1441C>A (p.Pro481Thr)
c.1300C>A (p.Pro434Thr)
c.1111C>A (p.Pro371Thr)
c.1096C>A (p.Pro366Thr)
c.601C>A (p.Pro201Thr)
c.412C>A (p.Pro138Thr)
10g.86716488C>GCA377450364LDB3n.515-2239C>G
c.1204C>G (p.Pro402Ala)
c.1252C>G (p.Pro418Ala)
c.1393C>G (p.Pro465Ala)
c.1063C>G (p.Pro355Ala)
c.1408C>G (p.Pro470Ala)
c.1645C>G (p.Pro549Ala)
c.1597C>G (p.Pro533Ala)
c.1456C>G (p.Pro486Ala)
c.1441C>G (p.Pro481Ala)
c.1300C>G (p.Pro434Ala)
c.1111C>G (p.Pro371Ala)
c.1096C>G (p.Pro366Ala)
c.601C>G (p.Pro201Ala)
c.412C>G (p.Pro138Ala)
10g.86716488C>TCA377450365LDB3n.515-2239C>T
c.1204C>T (p.Pro402Ser)
c.1252C>T (p.Pro418Ser)
c.1393C>T (p.Pro465Ser)
c.1063C>T (p.Pro355Ser)
c.1408C>T (p.Pro470Ser)
c.1645C>T (p.Pro549Ser)
c.1597C>T (p.Pro533Ser)
c.1456C>T (p.Pro486Ser)
c.1441C>T (p.Pro481Ser)
c.1300C>T (p.Pro434Ser)
c.1111C>T (p.Pro371Ser)
c.1096C>T (p.Pro366Ser)
c.601C>T (p.Pro201Ser)
c.412C>T (p.Pro138Ser)
 gnomAD v4
10g.86716489C>ACA377450366LDB3n.515-2238C>A
c.1205C>A (p.Pro402His)
c.1253C>A (p.Pro418His)
c.1394C>A (p.Pro465His)
c.1064C>A (p.Pro355His)
c.1409C>A (p.Pro470His)
c.1646C>A (p.Pro549His)
c.1598C>A (p.Pro533His)
c.1457C>A (p.Pro486His)
c.1442C>A (p.Pro481His)
c.1301C>A (p.Pro434His)
c.1112C>A (p.Pro371His)
c.1097C>A (p.Pro366His)
c.602C>A (p.Pro201His)
c.413C>A (p.Pro138His)
10g.86716489C>GCA377450376LDB3n.515-2238C>G
c.1205C>G (p.Pro402Arg)
c.1253C>G (p.Pro418Arg)
c.1394C>G (p.Pro465Arg)
c.1064C>G (p.Pro355Arg)
c.1409C>G (p.Pro470Arg)
c.1646C>G (p.Pro549Arg)
c.1598C>G (p.Pro533Arg)
c.1457C>G (p.Pro486Arg)
c.1442C>G (p.Pro481Arg)
c.1301C>G (p.Pro434Arg)
c.1112C>G (p.Pro371Arg)
c.1097C>G (p.Pro366Arg)
c.602C>G (p.Pro201Arg)
c.413C>G (p.Pro138Arg)
10g.86716489C>TCA377450379LDB3n.515-2238C>T
c.1205C>T (p.Pro402Leu)
c.1253C>T (p.Pro418Leu)
c.1394C>T (p.Pro465Leu)
c.1064C>T (p.Pro355Leu)
c.1409C>T (p.Pro470Leu)
c.1646C>T (p.Pro549Leu)
c.1598C>T (p.Pro533Leu)
c.1457C>T (p.Pro486Leu)
c.1442C>T (p.Pro481Leu)
c.1301C>T (p.Pro434Leu)
c.1112C>T (p.Pro371Leu)
c.1097C>T (p.Pro366Leu)
c.602C>T (p.Pro201Leu)
c.413C>T (p.Pro138Leu)
10g.86716490T>ACA470375127LDB3n.515-2237T>A
c.1206T>A (p.Pro402=)
c.1254T>A (p.Pro418=)
c.1395T>A (p.Pro465=)
c.1065T>A (p.Pro355=)
c.1410T>A (p.Pro470=)
c.1647T>A (p.Pro549=)
c.1599T>A (p.Pro533=)
c.1458T>A (p.Pro486=)
c.1443T>A (p.Pro481=)
c.1302T>A (p.Pro434=)
c.1113T>A (p.Pro371=)
c.1098T>A (p.Pro366=)
c.603T>A (p.Pro201=)
c.414T>A (p.Pro138=)
10g.86716490T>CCA470375128LDB3n.515-2237T>C
c.1206T>C (p.Pro402=)
c.1254T>C (p.Pro418=)
c.1395T>C (p.Pro465=)
c.1065T>C (p.Pro355=)
c.1410T>C (p.Pro470=)
c.1647T>C (p.Pro549=)
c.1599T>C (p.Pro533=)
c.1458T>C (p.Pro486=)
c.1443T>C (p.Pro481=)
c.1302T>C (p.Pro434=)
c.1113T>C (p.Pro371=)
c.1098T>C (p.Pro366=)
c.603T>C (p.Pro201=)
c.414T>C (p.Pro138=)
10g.86716490T>GCA470375131LDB3n.515-2237T>G
c.1206T>G (p.Pro402=)
c.1254T>G (p.Pro418=)
c.1395T>G (p.Pro465=)
c.1065T>G (p.Pro355=)
c.1410T>G (p.Pro470=)
c.1647T>G (p.Pro549=)
c.1599T>G (p.Pro533=)
c.1458T>G (p.Pro486=)
c.1443T>G (p.Pro481=)
c.1302T>G (p.Pro434=)
c.1113T>G (p.Pro371=)
c.1098T>G (p.Pro366=)
c.603T>G (p.Pro201=)
c.414T>G (p.Pro138=)
 gnomAD v4
10g.86716491G>ACA377450386LDB3n.515-2236G>A
c.1207G>A (p.Ala403Thr)
c.1255G>A (p.Ala419Thr)
c.1396G>A (p.Ala466Thr)
c.1066G>A (p.Ala356Thr)
c.1411G>A (p.Ala471Thr)
c.1648G>A (p.Ala550Thr)
c.1600G>A (p.Ala534Thr)
c.1459G>A (p.Ala487Thr)
c.1444G>A (p.Ala482Thr)
c.1303G>A (p.Ala435Thr)
c.1114G>A (p.Ala372Thr)
c.1099G>A (p.Ala367Thr)
c.604G>A (p.Ala202Thr)
c.415G>A (p.Ala139Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716491G>CCA377450382LDB3n.515-2236G>C
c.1207G>C (p.Ala403Pro)
c.1255G>C (p.Ala419Pro)
c.1396G>C (p.Ala466Pro)
c.1066G>C (p.Ala356Pro)
c.1411G>C (p.Ala471Pro)
c.1648G>C (p.Ala550Pro)
c.1600G>C (p.Ala534Pro)
c.1459G>C (p.Ala487Pro)
c.1444G>C (p.Ala482Pro)
c.1303G>C (p.Ala435Pro)
c.1114G>C (p.Ala372Pro)
c.1099G>C (p.Ala367Pro)
c.604G>C (p.Ala202Pro)
c.415G>C (p.Ala139Pro)
 dbSNP
10g.86716491G=CA1925631898LDB3n.515-2236G=
c.1207G= (p.Ala403=)
c.1255G= (p.Ala419=)
c.1396G= (p.Ala466=)
c.1066G= (p.Ala356=)
c.1411G= (p.Ala471=)
c.1648G= (p.Ala550=)
c.1600G= (p.Ala534=)
c.1459G= (p.Ala487=)
c.1444G= (p.Ala482=)
c.1303G= (p.Ala435=)
c.1114G= (p.Ala372=)
c.1099G= (p.Ala367=)
c.604G= (p.Ala202=)
c.415G= (p.Ala139=)
10g.86716491G>TCA377450384LDB3n.515-2236G>T
c.1207G>T (p.Ala403Ser)
c.1255G>T (p.Ala419Ser)
c.1396G>T (p.Ala466Ser)
c.1066G>T (p.Ala356Ser)
c.1411G>T (p.Ala471Ser)
c.1648G>T (p.Ala550Ser)
c.1600G>T (p.Ala534Ser)
c.1459G>T (p.Ala487Ser)
c.1444G>T (p.Ala482Ser)
c.1303G>T (p.Ala435Ser)
c.1114G>T (p.Ala372Ser)
c.1099G>T (p.Ala367Ser)
c.604G>T (p.Ala202Ser)
c.415G>T (p.Ala139Ser)
 gnomAD v4
10g.86716492C>ACA377450394LDB3n.515-2235C>A
c.1208C>A (p.Ala403Asp)
c.1256C>A (p.Ala419Asp)
c.1397C>A (p.Ala466Asp)
c.1067C>A (p.Ala356Asp)
c.1412C>A (p.Ala471Asp)
c.1649C>A (p.Ala550Asp)
c.1601C>A (p.Ala534Asp)
c.1460C>A (p.Ala487Asp)
c.1445C>A (p.Ala482Asp)
c.1304C>A (p.Ala435Asp)
c.1115C>A (p.Ala372Asp)
c.1100C>A (p.Ala367Asp)
c.605C>A (p.Ala202Asp)
c.416C>A (p.Ala139Asp)
 dbSNP
10g.86716492C=CA1925631899LDB3n.515-2235C=
c.1208C= (p.Ala403=)
c.1256C= (p.Ala419=)
c.1397C= (p.Ala466=)
c.1067C= (p.Ala356=)
c.1412C= (p.Ala471=)
c.1649C= (p.Ala550=)
c.1601C= (p.Ala534=)
c.1460C= (p.Ala487=)
c.1445C= (p.Ala482=)
c.1304C= (p.Ala435=)
c.1115C= (p.Ala372=)
c.1100C= (p.Ala367=)
c.605C= (p.Ala202=)
c.416C= (p.Ala139=)
10g.86716492C>GCA377450399LDB3n.515-2235C>G
c.1208C>G (p.Ala403Gly)
c.1256C>G (p.Ala419Gly)
c.1397C>G (p.Ala466Gly)
c.1067C>G (p.Ala356Gly)
c.1412C>G (p.Ala471Gly)
c.1649C>G (p.Ala550Gly)
c.1601C>G (p.Ala534Gly)
c.1460C>G (p.Ala487Gly)
c.1445C>G (p.Ala482Gly)
c.1304C>G (p.Ala435Gly)
c.1115C>G (p.Ala372Gly)
c.1100C>G (p.Ala367Gly)
c.605C>G (p.Ala202Gly)
c.416C>G (p.Ala139Gly)
10g.86716492C>TCA5585152LDB3n.515-2235C>T
c.1208C>T (p.Ala403Val)
c.1256C>T (p.Ala419Val)
c.1397C>T (p.Ala466Val)
c.1067C>T (p.Ala356Val)
c.1412C>T (p.Ala471Val)
c.1649C>T (p.Ala550Val)
c.1601C>T (p.Ala534Val)
c.1460C>T (p.Ala487Val)
c.1445C>T (p.Ala482Val)
c.1304C>T (p.Ala435Val)
c.1115C>T (p.Ala372Val)
c.1100C>T (p.Ala367Val)
c.605C>T (p.Ala202Val)
c.416C>T (p.Ala139Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716496dupCA5585151LDB3n.515-2231dup
c.1212dup (p.Asn405GlnfsTer3)
c.1260dup (p.Asn421GlnfsTer3)
c.1401dup (p.Asn468GlnfsTer3)
c.1071dup (p.Asn358GlnfsTer3)
c.1416dup (p.Asn473GlnfsTer3)
c.1653dup (p.Asn552GlnfsTer3)
c.1605dup (p.Asn536GlnfsTer3)
c.1464dup (p.Asn489GlnfsTer3)
c.1449dup (p.Asn484GlnfsTer3)
c.1308dup (p.Asn437GlnfsTer3)
c.1119dup (p.Asn374GlnfsTer3)
c.1104dup (p.Asn369GlnfsTer3)
c.609dup (p.Asn204GlnfsTer3)
c.420dup (p.Asn141GlnfsTer3)
 dbSNP ExAC
10g.86716496delCA470375139LDB3n.515-2231del
c.1212del (p.Asn405ThrfsTer24)
c.1260del (p.Asn421ThrfsTer24)
c.1401del (p.Asn468ThrfsTer24)
c.1071del (p.Asn358ThrfsTer24)
c.1416del (p.Asn473ThrfsTer24)
c.1653del (p.Asn552ThrfsTer24)
c.1605del (p.Asn536ThrfsTer24)
c.1464del (p.Asn489ThrfsTer24)
c.1449del (p.Asn484ThrfsTer24)
c.1308del (p.Asn437ThrfsTer24)
c.1119del (p.Asn374ThrfsTer24)
c.1104del (p.Asn369ThrfsTer24)
c.609del (p.Asn204ThrfsTer24)
c.420del (p.Asn141ThrfsTer24)
 gnomAD v4 COSMIC COSMIC
10g.86716493C>ACA5585153LDB3n.515-2234C>A
c.1209C>A (p.Ala403=)
c.1257C>A (p.Ala419=)
c.1398C>A (p.Ala466=)
c.1068C>A (p.Ala356=)
c.1413C>A (p.Ala471=)
c.1650C>A (p.Ala550=)
c.1602C>A (p.Ala534=)
c.1461C>A (p.Ala487=)
c.1446C>A (p.Ala482=)
c.1305C>A (p.Ala435=)
c.1116C>A (p.Ala372=)
c.1101C>A (p.Ala367=)
c.606C>A (p.Ala202=)
c.417C>A (p.Ala139=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716493C=CA1925631900LDB3n.515-2234C=
c.1209C= (p.Ala403=)
c.1257C= (p.Ala419=)
c.1398C= (p.Ala466=)
c.1068C= (p.Ala356=)
c.1413C= (p.Ala471=)
c.1650C= (p.Ala550=)
c.1602C= (p.Ala534=)
c.1461C= (p.Ala487=)
c.1446C= (p.Ala482=)
c.1305C= (p.Ala435=)
c.1116C= (p.Ala372=)
c.1101C= (p.Ala367=)
c.606C= (p.Ala202=)
c.417C= (p.Ala139=)
10g.86716493C>GCA470375146LDB3n.515-2234C>G
c.1209C>G (p.Ala403=)
c.1257C>G (p.Ala419=)
c.1398C>G (p.Ala466=)
c.1068C>G (p.Ala356=)
c.1413C>G (p.Ala471=)
c.1650C>G (p.Ala550=)
c.1602C>G (p.Ala534=)
c.1461C>G (p.Ala487=)
c.1446C>G (p.Ala482=)
c.1305C>G (p.Ala435=)
c.1116C>G (p.Ala372=)
c.1101C>G (p.Ala367=)
c.606C>G (p.Ala202=)
c.417C>G (p.Ala139=)
10g.86716493C>TCA470375148LDB3n.515-2234C>T
c.1209C>T (p.Ala403=)
c.1257C>T (p.Ala419=)
c.1398C>T (p.Ala466=)
c.1068C>T (p.Ala356=)
c.1413C>T (p.Ala471=)
c.1650C>T (p.Ala550=)
c.1602C>T (p.Ala534=)
c.1461C>T (p.Ala487=)
c.1446C>T (p.Ala482=)
c.1305C>T (p.Ala435=)
c.1116C>T (p.Ala372=)
c.1101C>T (p.Ala367=)
c.606C>T (p.Ala202=)
c.417C>T (p.Ala139=)
10g.86716493_86716504delinsCCCCAACTATAACA1925631901LDB3n.515-2234_515-2223delinsCCCCAACTATAA
c.1209_1220delinsCCCCAACTATAA (p.Ala403=)
c.1257_1268delinsCCCCAACTATAA (p.Ala419=)
c.1398_1409delinsCCCCAACTATAA (p.Ala466=)
c.1068_1079delinsCCCCAACTATAA (p.Ala356=)
c.1413_1424delinsCCCCAACTATAA (p.Ala471=)
c.1650_1661delinsCCCCAACTATAA (p.Ala550=)
c.1602_1613delinsCCCCAACTATAA (p.Ala534=)
c.1461_1472delinsCCCCAACTATAA (p.Ala487=)
c.1446_1457delinsCCCCAACTATAA (p.Ala482=)
c.1305_1316delinsCCCCAACTATAA (p.Ala435=)
c.1116_1127delinsCCCCAACTATAA (p.Ala372=)
c.1101_1112delinsCCCCAACTATAA (p.Ala367=)
c.606_617delinsCCCCAACTATAA (p.Ala202=)
c.417_428delinsCCCCAACTATAA (p.Ala139=)
10g.86716494C>ACA377450410LDB3n.515-2233C>A
c.1210C>A (p.Pro404Thr)
c.1258C>A (p.Pro420Thr)
c.1399C>A (p.Pro467Thr)
c.1069C>A (p.Pro357Thr)
c.1414C>A (p.Pro472Thr)
c.1651C>A (p.Pro551Thr)
c.1603C>A (p.Pro535Thr)
c.1462C>A (p.Pro488Thr)
c.1447C>A (p.Pro483Thr)
c.1306C>A (p.Pro436Thr)
c.1117C>A (p.Pro373Thr)
c.1102C>A (p.Pro368Thr)
c.607C>A (p.Pro203Thr)
c.418C>A (p.Pro140Thr)
 dbSNP gnomAD v2 gnomAD v4
10g.86716494C=CA1925631902LDB3n.515-2233C=
c.1210C= (p.Pro404=)
c.1258C= (p.Pro420=)
c.1399C= (p.Pro467=)
c.1069C= (p.Pro357=)
c.1414C= (p.Pro472=)
c.1651C= (p.Pro551=)
c.1603C= (p.Pro535=)
c.1462C= (p.Pro488=)
c.1447C= (p.Pro483=)
c.1306C= (p.Pro436=)
c.1117C= (p.Pro373=)
c.1102C= (p.Pro368=)
c.607C= (p.Pro203=)
c.418C= (p.Pro140=)
10g.86716494C>GCA377450405LDB3n.515-2233C>G
c.1210C>G (p.Pro404Ala)
c.1258C>G (p.Pro420Ala)
c.1399C>G (p.Pro467Ala)
c.1069C>G (p.Pro357Ala)
c.1414C>G (p.Pro472Ala)
c.1651C>G (p.Pro551Ala)
c.1603C>G (p.Pro535Ala)
c.1462C>G (p.Pro488Ala)
c.1447C>G (p.Pro483Ala)
c.1306C>G (p.Pro436Ala)
c.1117C>G (p.Pro373Ala)
c.1102C>G (p.Pro368Ala)
c.607C>G (p.Pro203Ala)
c.418C>G (p.Pro140Ala)
10g.86716494C>TCA377450407LDB3n.515-2233C>T
c.1210C>T (p.Pro404Ser)
c.1258C>T (p.Pro420Ser)
c.1399C>T (p.Pro467Ser)
c.1069C>T (p.Pro357Ser)
c.1414C>T (p.Pro472Ser)
c.1651C>T (p.Pro551Ser)
c.1603C>T (p.Pro535Ser)
c.1462C>T (p.Pro488Ser)
c.1447C>T (p.Pro483Ser)
c.1306C>T (p.Pro436Ser)
c.1117C>T (p.Pro373Ser)
c.1102C>T (p.Pro368Ser)
c.607C>T (p.Pro203Ser)
c.418C>T (p.Pro140Ser)
 gnomAD v4
10g.86716497_86716507delCA595183696LDB3n.515-2230_515-2220del
c.1213_1223del (p.Asn405CysfsTer23)
c.1261_1271del (p.Asn421CysfsTer23)
c.1402_1412del (p.Asn468CysfsTer23)
c.1072_1082del (p.Asn358CysfsTer23)
c.1417_1427del (p.Asn473CysfsTer23)
c.1654_1664del (p.Asn552CysfsTer23)
c.1606_1616del (p.Asn536CysfsTer23)
c.1465_1475del (p.Asn489CysfsTer23)
c.1450_1460del (p.Asn484CysfsTer23)
c.1309_1319del (p.Asn437CysfsTer23)
c.1120_1130del (p.Asn374CysfsTer23)
c.1105_1115del (p.Asn369CysfsTer23)
c.610_620del (p.Asn204CysfsTer23)
c.421_431del (p.Asn141CysfsTer23)
 dbSNP gnomAD v2 gnomAD v4
10g.86716495C>ACA377450415LDB3n.515-2232C>A
c.1211C>A (p.Pro404His)
c.1259C>A (p.Pro420His)
c.1400C>A (p.Pro467His)
c.1070C>A (p.Pro357His)
c.1415C>A (p.Pro472His)
c.1652C>A (p.Pro551His)
c.1604C>A (p.Pro535His)
c.1463C>A (p.Pro488His)
c.1448C>A (p.Pro483His)
c.1307C>A (p.Pro436His)
c.1118C>A (p.Pro373His)
c.1103C>A (p.Pro368His)
c.608C>A (p.Pro203His)
c.419C>A (p.Pro140His)
 gnomAD v4
10g.86716495C>GCA377450416LDB3n.515-2232C>G
c.1211C>G (p.Pro404Arg)
c.1259C>G (p.Pro420Arg)
c.1400C>G (p.Pro467Arg)
c.1070C>G (p.Pro357Arg)
c.1415C>G (p.Pro472Arg)
c.1652C>G (p.Pro551Arg)
c.1604C>G (p.Pro535Arg)
c.1463C>G (p.Pro488Arg)
c.1448C>G (p.Pro483Arg)
c.1307C>G (p.Pro436Arg)
c.1118C>G (p.Pro373Arg)
c.1103C>G (p.Pro368Arg)
c.608C>G (p.Pro203Arg)
c.419C>G (p.Pro140Arg)
10g.86716495C>TCA377450417LDB3n.515-2232C>T
c.1211C>T (p.Pro404Leu)
c.1259C>T (p.Pro420Leu)
c.1400C>T (p.Pro467Leu)
c.1070C>T (p.Pro357Leu)
c.1415C>T (p.Pro472Leu)
c.1652C>T (p.Pro551Leu)
c.1604C>T (p.Pro535Leu)
c.1463C>T (p.Pro488Leu)
c.1448C>T (p.Pro483Leu)
c.1307C>T (p.Pro436Leu)
c.1118C>T (p.Pro373Leu)
c.1103C>T (p.Pro368Leu)
c.608C>T (p.Pro203Leu)
c.419C>T (p.Pro140Leu)
10g.86716496C>ACA470375158LDB3n.515-2231C>A
c.1212C>A (p.Pro404=)
c.1260C>A (p.Pro420=)
c.1401C>A (p.Pro467=)
c.1071C>A (p.Pro357=)
c.1416C>A (p.Pro472=)
c.1653C>A (p.Pro551=)
c.1605C>A (p.Pro535=)
c.1464C>A (p.Pro488=)
c.1449C>A (p.Pro483=)
c.1308C>A (p.Pro436=)
c.1119C>A (p.Pro373=)
c.1104C>A (p.Pro368=)
c.609C>A (p.Pro203=)
c.420C>A (p.Pro140=)
10g.86716496C>GCA470375161LDB3n.515-2231C>G
c.1212C>G (p.Pro404=)
c.1260C>G (p.Pro420=)
c.1401C>G (p.Pro467=)
c.1071C>G (p.Pro357=)
c.1416C>G (p.Pro472=)
c.1653C>G (p.Pro551=)
c.1605C>G (p.Pro535=)
c.1464C>G (p.Pro488=)
c.1449C>G (p.Pro483=)
c.1308C>G (p.Pro436=)
c.1119C>G (p.Pro373=)
c.1104C>G (p.Pro368=)
c.609C>G (p.Pro203=)
c.420C>G (p.Pro140=)
10g.86716496C>TCA470375159LDB3n.515-2231C>T
c.1212C>T (p.Pro404=)
c.1260C>T (p.Pro420=)
c.1401C>T (p.Pro467=)
c.1071C>T (p.Pro357=)
c.1416C>T (p.Pro472=)
c.1653C>T (p.Pro551=)
c.1605C>T (p.Pro535=)
c.1464C>T (p.Pro488=)
c.1449C>T (p.Pro483=)
c.1308C>T (p.Pro436=)
c.1119C>T (p.Pro373=)
c.1104C>T (p.Pro368=)
c.609C>T (p.Pro203=)
c.420C>T (p.Pro140=)
 gnomAD v4
10g.86716497A>CCA377450418LDB3n.515-2230A>C
c.1213A>C (p.Asn405His)
c.1261A>C (p.Asn421His)
c.1402A>C (p.Asn468His)
c.1072A>C (p.Asn358His)
c.1417A>C (p.Asn473His)
c.1654A>C (p.Asn552His)
c.1606A>C (p.Asn536His)
c.1465A>C (p.Asn489His)
c.1450A>C (p.Asn484His)
c.1309A>C (p.Asn437His)
c.1120A>C (p.Asn374His)
c.1105A>C (p.Asn369His)
c.610A>C (p.Asn204His)
c.421A>C (p.Asn141His)
 gnomAD v4
10g.86716497A>GCA377450419LDB3n.515-2230A>G
c.1213A>G (p.Asn405Asp)
c.1261A>G (p.Asn421Asp)
c.1402A>G (p.Asn468Asp)
c.1072A>G (p.Asn358Asp)
c.1417A>G (p.Asn473Asp)
c.1654A>G (p.Asn552Asp)
c.1606A>G (p.Asn536Asp)
c.1465A>G (p.Asn489Asp)
c.1450A>G (p.Asn484Asp)
c.1309A>G (p.Asn437Asp)
c.1120A>G (p.Asn374Asp)
c.1105A>G (p.Asn369Asp)
c.610A>G (p.Asn204Asp)
c.421A>G (p.Asn141Asp)
10g.86716497A>TCA377450420LDB3n.515-2230A>T
c.1213A>T (p.Asn405Tyr)
c.1261A>T (p.Asn421Tyr)
c.1402A>T (p.Asn468Tyr)
c.1072A>T (p.Asn358Tyr)
c.1417A>T (p.Asn473Tyr)
c.1654A>T (p.Asn552Tyr)
c.1606A>T (p.Asn536Tyr)
c.1465A>T (p.Asn489Tyr)
c.1450A>T (p.Asn484Tyr)
c.1309A>T (p.Asn437Tyr)
c.1120A>T (p.Asn374Tyr)
c.1105A>T (p.Asn369Tyr)
c.610A>T (p.Asn204Tyr)
c.421A>T (p.Asn141Tyr)
10g.86716498A=CA1925631903LDB3n.515-2229A=
c.1214A= (p.Asn405=)
c.1262A= (p.Asn421=)
c.1403A= (p.Asn468=)
c.1073A= (p.Asn358=)
c.1418A= (p.Asn473=)
c.1655A= (p.Asn552=)
c.1607A= (p.Asn536=)
c.1466A= (p.Asn489=)
c.1451A= (p.Asn484=)
c.1310A= (p.Asn437=)
c.1121A= (p.Asn374=)
c.1106A= (p.Asn369=)
c.611A= (p.Asn204=)
c.422A= (p.Asn141=)
10g.86716498A>CCA377450421LDB3n.515-2229A>C
c.1214A>C (p.Asn405Thr)
c.1262A>C (p.Asn421Thr)
c.1403A>C (p.Asn468Thr)
c.1073A>C (p.Asn358Thr)
c.1418A>C (p.Asn473Thr)
c.1655A>C (p.Asn552Thr)
c.1607A>C (p.Asn536Thr)
c.1466A>C (p.Asn489Thr)
c.1451A>C (p.Asn484Thr)
c.1310A>C (p.Asn437Thr)
c.1121A>C (p.Asn374Thr)
c.1106A>C (p.Asn369Thr)
c.611A>C (p.Asn204Thr)
c.422A>C (p.Asn141Thr)
10g.86716498A>GCA346428LDB3n.515-2229A>G
c.1214A>G (p.Asn405Ser)
c.1262A>G (p.Asn421Ser)
c.1403A>G (p.Asn468Ser)
c.1073A>G (p.Asn358Ser)
c.1418A>G (p.Asn473Ser)
c.1655A>G (p.Asn552Ser)
c.1607A>G (p.Asn536Ser)
c.1466A>G (p.Asn489Ser)
c.1451A>G (p.Asn484Ser)
c.1310A>G (p.Asn437Ser)
c.1121A>G (p.Asn374Ser)
c.1106A>G (p.Asn369Ser)
c.611A>G (p.Asn204Ser)
c.422A>G (p.Asn141Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716498A>TCA377450423LDB3n.515-2229A>T
c.1214A>T (p.Asn405Ile)
c.1262A>T (p.Asn421Ile)
c.1403A>T (p.Asn468Ile)
c.1073A>T (p.Asn358Ile)
c.1418A>T (p.Asn473Ile)
c.1655A>T (p.Asn552Ile)
c.1607A>T (p.Asn536Ile)
c.1466A>T (p.Asn489Ile)
c.1451A>T (p.Asn484Ile)
c.1310A>T (p.Asn437Ile)
c.1121A>T (p.Asn374Ile)
c.1106A>T (p.Asn369Ile)
c.611A>T (p.Asn204Ile)
c.422A>T (p.Asn141Ile)
10g.86716499C>ACA377450424LDB3n.515-2228C>A
c.1215C>A (p.Asn405Lys)
c.1263C>A (p.Asn421Lys)
c.1404C>A (p.Asn468Lys)
c.1074C>A (p.Asn358Lys)
c.1419C>A (p.Asn473Lys)
c.1656C>A (p.Asn552Lys)
c.1608C>A (p.Asn536Lys)
c.1467C>A (p.Asn489Lys)
c.1452C>A (p.Asn484Lys)
c.1311C>A (p.Asn437Lys)
c.1122C>A (p.Asn374Lys)
c.1107C>A (p.Asn369Lys)
c.612C>A (p.Asn204Lys)
c.423C>A (p.Asn141Lys)
10g.86716499C=CA1925631904LDB3n.515-2228C=
c.1215C= (p.Asn405=)
c.1263C= (p.Asn421=)
c.1404C= (p.Asn468=)
c.1074C= (p.Asn358=)
c.1419C= (p.Asn473=)
c.1656C= (p.Asn552=)
c.1608C= (p.Asn536=)
c.1467C= (p.Asn489=)
c.1452C= (p.Asn484=)
c.1311C= (p.Asn437=)
c.1122C= (p.Asn374=)
c.1107C= (p.Asn369=)
c.612C= (p.Asn204=)
c.423C= (p.Asn141=)
10g.86716499C>GCA377450425LDB3n.515-2228C>G
c.1215C>G (p.Asn405Lys)
c.1263C>G (p.Asn421Lys)
c.1404C>G (p.Asn468Lys)
c.1074C>G (p.Asn358Lys)
c.1419C>G (p.Asn473Lys)
c.1656C>G (p.Asn552Lys)
c.1608C>G (p.Asn536Lys)
c.1467C>G (p.Asn489Lys)
c.1452C>G (p.Asn484Lys)
c.1311C>G (p.Asn437Lys)
c.1122C>G (p.Asn374Lys)
c.1107C>G (p.Asn369Lys)
c.612C>G (p.Asn204Lys)
c.423C>G (p.Asn141Lys)
10g.86716499C>TCA10587093LDB3n.515-2228C>T
c.1215C>T (p.Asn405=)
c.1263C>T (p.Asn421=)
c.1404C>T (p.Asn468=)
c.1074C>T (p.Asn358=)
c.1419C>T (p.Asn473=)
c.1656C>T (p.Asn552=)
c.1608C>T (p.Asn536=)
c.1467C>T (p.Asn489=)
c.1452C>T (p.Asn484=)
c.1311C>T (p.Asn437=)
c.1122C>T (p.Asn374=)
c.1107C>T (p.Asn369=)
c.612C>T (p.Asn204=)
c.423C>T (p.Asn141=)
 ClinVar dbSNP
10g.86716500T>ACA377450426LDB3n.515-2227T>A
c.1216T>A (p.Tyr406Asn)
c.1264T>A (p.Tyr422Asn)
c.1405T>A (p.Tyr469Asn)
c.1075T>A (p.Tyr359Asn)
c.1420T>A (p.Tyr474Asn)
c.1657T>A (p.Tyr553Asn)
c.1609T>A (p.Tyr537Asn)
c.1468T>A (p.Tyr490Asn)
c.1453T>A (p.Tyr485Asn)
c.1312T>A (p.Tyr438Asn)
c.1123T>A (p.Tyr375Asn)
c.1108T>A (p.Tyr370Asn)
c.613T>A (p.Tyr205Asn)
c.424T>A (p.Tyr142Asn)
10g.86716500T>CCA377450430LDB3n.515-2227T>C
c.1216T>C (p.Tyr406His)
c.1264T>C (p.Tyr422His)
c.1405T>C (p.Tyr469His)
c.1075T>C (p.Tyr359His)
c.1420T>C (p.Tyr474His)
c.1657T>C (p.Tyr553His)
c.1609T>C (p.Tyr537His)
c.1468T>C (p.Tyr490His)
c.1453T>C (p.Tyr485His)
c.1312T>C (p.Tyr438His)
c.1123T>C (p.Tyr375His)
c.1108T>C (p.Tyr370His)
c.613T>C (p.Tyr205His)
c.424T>C (p.Tyr142His)
10g.86716500T>GCA377450427LDB3n.515-2227T>G
c.1216T>G (p.Tyr406Asp)
c.1264T>G (p.Tyr422Asp)
c.1405T>G (p.Tyr469Asp)
c.1075T>G (p.Tyr359Asp)
c.1420T>G (p.Tyr474Asp)
c.1657T>G (p.Tyr553Asp)
c.1609T>G (p.Tyr537Asp)
c.1468T>G (p.Tyr490Asp)
c.1453T>G (p.Tyr485Asp)
c.1312T>G (p.Tyr438Asp)
c.1123T>G (p.Tyr375Asp)
c.1108T>G (p.Tyr370Asp)
c.613T>G (p.Tyr205Asp)
c.424T>G (p.Tyr142Asp)
10g.86716502_86716503dupCA930828287LDB3n.515-2225_515-2224dup
c.1218_1219dup (p.Asn407IlefsTer23)
c.1266_1267dup (p.Asn423IlefsTer23)
c.1407_1408dup (p.Asn470IlefsTer23)
c.1077_1078dup (p.Asn360IlefsTer23)
c.1422_1423dup (p.Asn475IlefsTer23)
c.1659_1660dup (p.Asn554IlefsTer23)
c.1611_1612dup (p.Asn538IlefsTer23)
c.1470_1471dup (p.Asn491IlefsTer23)
c.1455_1456dup (p.Asn486IlefsTer23)
c.1314_1315dup (p.Asn439IlefsTer23)
c.1125_1126dup (p.Asn376IlefsTer23)
c.1110_1111dup (p.Asn371IlefsTer23)
c.615_616dup (p.Asn206IlefsTer23)
c.426_427dup (p.Asn143IlefsTer23)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716501A>CCA377450438LDB3n.515-2226A>C
c.1217A>C (p.Tyr406Ser)
c.1265A>C (p.Tyr422Ser)
c.1406A>C (p.Tyr469Ser)
c.1076A>C (p.Tyr359Ser)
c.1421A>C (p.Tyr474Ser)
c.1658A>C (p.Tyr553Ser)
c.1610A>C (p.Tyr537Ser)
c.1469A>C (p.Tyr490Ser)
c.1454A>C (p.Tyr485Ser)
c.1313A>C (p.Tyr438Ser)
c.1124A>C (p.Tyr375Ser)
c.1109A>C (p.Tyr370Ser)
c.614A>C (p.Tyr205Ser)
c.425A>C (p.Tyr142Ser)
 gnomAD v4
10g.86716501A>GCA377450444LDB3n.515-2226A>G
c.1217A>G (p.Tyr406Cys)
c.1265A>G (p.Tyr422Cys)
c.1406A>G (p.Tyr469Cys)
c.1076A>G (p.Tyr359Cys)
c.1421A>G (p.Tyr474Cys)
c.1658A>G (p.Tyr553Cys)
c.1610A>G (p.Tyr537Cys)
c.1469A>G (p.Tyr490Cys)
c.1454A>G (p.Tyr485Cys)
c.1313A>G (p.Tyr438Cys)
c.1124A>G (p.Tyr375Cys)
c.1109A>G (p.Tyr370Cys)
c.614A>G (p.Tyr205Cys)
c.425A>G (p.Tyr142Cys)
10g.86716501A>TCA377450445LDB3n.515-2226A>T
c.1217A>T (p.Tyr406Phe)
c.1265A>T (p.Tyr422Phe)
c.1406A>T (p.Tyr469Phe)
c.1076A>T (p.Tyr359Phe)
c.1421A>T (p.Tyr474Phe)
c.1658A>T (p.Tyr553Phe)
c.1610A>T (p.Tyr537Phe)
c.1469A>T (p.Tyr490Phe)
c.1454A>T (p.Tyr485Phe)
c.1313A>T (p.Tyr438Phe)
c.1124A>T (p.Tyr375Phe)
c.1109A>T (p.Tyr370Phe)
c.614A>T (p.Tyr205Phe)
c.425A>T (p.Tyr142Phe)
10g.86716502T>ACA377450447LDB3n.515-2225T>A
c.1218T>A (p.Tyr406Ter)
c.1266T>A (p.Tyr422Ter)
c.1407T>A (p.Tyr469Ter)
c.1077T>A (p.Tyr359Ter)
c.1422T>A (p.Tyr474Ter)
c.1659T>A (p.Tyr553Ter)
c.1611T>A (p.Tyr537Ter)
c.1470T>A (p.Tyr490Ter)
c.1455T>A (p.Tyr485Ter)
c.1314T>A (p.Tyr438Ter)
c.1125T>A (p.Tyr375Ter)
c.1110T>A (p.Tyr370Ter)
c.615T>A (p.Tyr205Ter)
c.426T>A (p.Tyr142Ter)
10g.86716502T>CCA470375186LDB3n.515-2225T>C
c.1218T>C (p.Tyr406=)
c.1266T>C (p.Tyr422=)
c.1407T>C (p.Tyr469=)
c.1077T>C (p.Tyr359=)
c.1422T>C (p.Tyr474=)
c.1659T>C (p.Tyr553=)
c.1611T>C (p.Tyr537=)
c.1470T>C (p.Tyr490=)
c.1455T>C (p.Tyr485=)
c.1314T>C (p.Tyr438=)
c.1125T>C (p.Tyr375=)
c.1110T>C (p.Tyr370=)
c.615T>C (p.Tyr205=)
c.426T>C (p.Tyr142=)
 ClinVar dbSNP gnomAD v4
10g.86716502T>GCA377450451LDB3n.515-2225T>G
c.1218T>G (p.Tyr406Ter)
c.1266T>G (p.Tyr422Ter)
c.1407T>G (p.Tyr469Ter)
c.1077T>G (p.Tyr359Ter)
c.1422T>G (p.Tyr474Ter)
c.1659T>G (p.Tyr553Ter)
c.1611T>G (p.Tyr537Ter)
c.1470T>G (p.Tyr490Ter)
c.1455T>G (p.Tyr485Ter)
c.1314T>G (p.Tyr438Ter)
c.1125T>G (p.Tyr375Ter)
c.1110T>G (p.Tyr370Ter)
c.615T>G (p.Tyr205Ter)
c.426T>G (p.Tyr142Ter)
10g.86716502T=CA1925631905LDB3n.515-2225T=
c.1218T= (p.Tyr406=)
c.1266T= (p.Tyr422=)
c.1407T= (p.Tyr469=)
c.1077T= (p.Tyr359=)
c.1422T= (p.Tyr474=)
c.1659T= (p.Tyr553=)
c.1611T= (p.Tyr537=)
c.1470T= (p.Tyr490=)
c.1455T= (p.Tyr485=)
c.1314T= (p.Tyr438=)
c.1125T= (p.Tyr375=)
c.1110T= (p.Tyr370=)
c.615T= (p.Tyr205=)
c.426T= (p.Tyr142=)
10g.86716503A>CCA377450454LDB3n.515-2224A>C
c.1219A>C (p.Asn407His)
c.1267A>C (p.Asn423His)
c.1408A>C (p.Asn470His)
c.1078A>C (p.Asn360His)
c.1423A>C (p.Asn475His)
c.1660A>C (p.Asn554His)
c.1612A>C (p.Asn538His)
c.1471A>C (p.Asn491His)
c.1456A>C (p.Asn486His)
c.1315A>C (p.Asn439His)
c.1126A>C (p.Asn376His)
c.1111A>C (p.Asn371His)
c.616A>C (p.Asn206His)
c.427A>C (p.Asn143His)
10g.86716503A>GCA377450466LDB3n.515-2224A>G
c.1219A>G (p.Asn407Asp)
c.1267A>G (p.Asn423Asp)
c.1408A>G (p.Asn470Asp)
c.1078A>G (p.Asn360Asp)
c.1423A>G (p.Asn475Asp)
c.1660A>G (p.Asn554Asp)
c.1612A>G (p.Asn538Asp)
c.1471A>G (p.Asn491Asp)
c.1456A>G (p.Asn486Asp)
c.1315A>G (p.Asn439Asp)
c.1126A>G (p.Asn376Asp)
c.1111A>G (p.Asn371Asp)
c.616A>G (p.Asn206Asp)
c.427A>G (p.Asn143Asp)
10g.86716503A>TCA377450467LDB3n.515-2224A>T
c.1219A>T (p.Asn407Tyr)
c.1267A>T (p.Asn423Tyr)
c.1408A>T (p.Asn470Tyr)
c.1078A>T (p.Asn360Tyr)
c.1423A>T (p.Asn475Tyr)
c.1660A>T (p.Asn554Tyr)
c.1612A>T (p.Asn538Tyr)
c.1471A>T (p.Asn491Tyr)
c.1456A>T (p.Asn486Tyr)
c.1315A>T (p.Asn439Tyr)
c.1126A>T (p.Asn376Tyr)
c.1111A>T (p.Asn371Tyr)
c.616A>T (p.Asn206Tyr)
c.427A>T (p.Asn143Tyr)
10g.86716504A>CCA377450468LDB3n.515-2223A>C
c.1220A>C (p.Asn407Thr)
c.1268A>C (p.Asn423Thr)
c.1409A>C (p.Asn470Thr)
c.1079A>C (p.Asn360Thr)
c.1424A>C (p.Asn475Thr)
c.1661A>C (p.Asn554Thr)
c.1613A>C (p.Asn538Thr)
c.1472A>C (p.Asn491Thr)
c.1457A>C (p.Asn486Thr)
c.1316A>C (p.Asn439Thr)
c.1127A>C (p.Asn376Thr)
c.1112A>C (p.Asn371Thr)
c.617A>C (p.Asn206Thr)
c.428A>C (p.Asn143Thr)
10g.86716504A>GCA377450469LDB3n.515-2223A>G
c.1220A>G (p.Asn407Ser)
c.1268A>G (p.Asn423Ser)
c.1409A>G (p.Asn470Ser)
c.1079A>G (p.Asn360Ser)
c.1424A>G (p.Asn475Ser)
c.1661A>G (p.Asn554Ser)
c.1613A>G (p.Asn538Ser)
c.1472A>G (p.Asn491Ser)
c.1457A>G (p.Asn486Ser)
c.1316A>G (p.Asn439Ser)
c.1127A>G (p.Asn376Ser)
c.1112A>G (p.Asn371Ser)
c.617A>G (p.Asn206Ser)
c.428A>G (p.Asn143Ser)
10g.86716504A>TCA377450472LDB3n.515-2223A>T
c.1220A>T (p.Asn407Ile)
c.1268A>T (p.Asn423Ile)
c.1409A>T (p.Asn470Ile)
c.1079A>T (p.Asn360Ile)
c.1424A>T (p.Asn475Ile)
c.1661A>T (p.Asn554Ile)
c.1613A>T (p.Asn538Ile)
c.1472A>T (p.Asn491Ile)
c.1457A>T (p.Asn486Ile)
c.1316A>T (p.Asn439Ile)
c.1127A>T (p.Asn376Ile)
c.1112A>T (p.Asn371Ile)
c.617A>T (p.Asn206Ile)
c.428A>T (p.Asn143Ile)
10g.86716505C>ACA15067467LDB3n.515-2222C>A
c.1221C>A (p.Asn407Lys)
c.1269C>A (p.Asn423Lys)
c.1410C>A (p.Asn470Lys)
c.1080C>A (p.Asn360Lys)
c.1425C>A (p.Asn475Lys)
c.1662C>A (p.Asn554Lys)
c.1614C>A (p.Asn538Lys)
c.1473C>A (p.Asn491Lys)
c.1458C>A (p.Asn486Lys)
c.1317C>A (p.Asn439Lys)
c.1128C>A (p.Asn376Lys)
c.1113C>A (p.Asn371Lys)
c.618C>A (p.Asn206Lys)
c.429C>A (p.Asn143Lys)
 ClinVar dbSNP gnomAD v4
10g.86716505C=CA1925631906LDB3n.515-2222C=
c.1221C= (p.Asn407=)
c.1269C= (p.Asn423=)
c.1410C= (p.Asn470=)
c.1080C= (p.Asn360=)
c.1425C= (p.Asn475=)
c.1662C= (p.Asn554=)
c.1614C= (p.Asn538=)
c.1473C= (p.Asn491=)
c.1458C= (p.Asn486=)
c.1317C= (p.Asn439=)
c.1128C= (p.Asn376=)
c.1113C= (p.Asn371=)
c.618C= (p.Asn206=)
c.429C= (p.Asn143=)
10g.86716505C>GCA377450477LDB3n.515-2222C>G
c.1221C>G (p.Asn407Lys)
c.1269C>G (p.Asn423Lys)
c.1410C>G (p.Asn470Lys)
c.1080C>G (p.Asn360Lys)
c.1425C>G (p.Asn475Lys)
c.1662C>G (p.Asn554Lys)
c.1614C>G (p.Asn538Lys)
c.1473C>G (p.Asn491Lys)
c.1458C>G (p.Asn486Lys)
c.1317C>G (p.Asn439Lys)
c.1128C>G (p.Asn376Lys)
c.1113C>G (p.Asn371Lys)
c.618C>G (p.Asn206Lys)
c.429C>G (p.Asn143Lys)
10g.86716505C>TCA470375199LDB3n.515-2222C>T
c.1221C>T (p.Asn407=)
c.1269C>T (p.Asn423=)
c.1410C>T (p.Asn470=)
c.1080C>T (p.Asn360=)
c.1425C>T (p.Asn475=)
c.1662C>T (p.Asn554=)
c.1614C>T (p.Asn538=)
c.1473C>T (p.Asn491=)
c.1458C>T (p.Asn486=)
c.1317C>T (p.Asn439=)
c.1128C>T (p.Asn376=)
c.1113C>T (p.Asn371=)
c.618C>T (p.Asn206=)
c.429C>T (p.Asn143=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716506C>ACA377450480LDB3n.515-2221C>A
c.1222C>A (p.Pro408Thr)
c.1270C>A (p.Pro424Thr)
c.1411C>A (p.Pro471Thr)
c.1081C>A (p.Pro361Thr)
c.1426C>A (p.Pro476Thr)
c.1663C>A (p.Pro555Thr)
c.1615C>A (p.Pro539Thr)
c.1474C>A (p.Pro492Thr)
c.1459C>A (p.Pro487Thr)
c.1318C>A (p.Pro440Thr)
c.1129C>A (p.Pro377Thr)
c.1114C>A (p.Pro372Thr)
c.619C>A (p.Pro207Thr)
c.430C>A (p.Pro144Thr)
 gnomAD v4
10g.86716506C=CA1925631907LDB3n.515-2221C=
c.1222C= (p.Pro408=)
c.1270C= (p.Pro424=)
c.1411C= (p.Pro471=)
c.1081C= (p.Pro361=)
c.1426C= (p.Pro476=)
c.1663C= (p.Pro555=)
c.1615C= (p.Pro539=)
c.1474C= (p.Pro492=)
c.1459C= (p.Pro487=)
c.1318C= (p.Pro440=)
c.1129C= (p.Pro377=)
c.1114C= (p.Pro372=)
c.619C= (p.Pro207=)
c.430C= (p.Pro144=)
10g.86716506C>GCA377450481LDB3n.515-2221C>G
c.1222C>G (p.Pro408Ala)
c.1270C>G (p.Pro424Ala)
c.1411C>G (p.Pro471Ala)
c.1081C>G (p.Pro361Ala)
c.1426C>G (p.Pro476Ala)
c.1663C>G (p.Pro555Ala)
c.1615C>G (p.Pro539Ala)
c.1474C>G (p.Pro492Ala)
c.1459C>G (p.Pro487Ala)
c.1318C>G (p.Pro440Ala)
c.1129C>G (p.Pro377Ala)
c.1114C>G (p.Pro372Ala)
c.619C>G (p.Pro207Ala)
c.430C>G (p.Pro144Ala)
10g.86716506C>TCA5585154LDB3n.515-2221C>T
c.1222C>T (p.Pro408Ser)
c.1270C>T (p.Pro424Ser)
c.1411C>T (p.Pro471Ser)
c.1081C>T (p.Pro361Ser)
c.1426C>T (p.Pro476Ser)
c.1663C>T (p.Pro555Ser)
c.1615C>T (p.Pro539Ser)
c.1474C>T (p.Pro492Ser)
c.1459C>T (p.Pro487Ser)
c.1318C>T (p.Pro440Ser)
c.1129C>T (p.Pro377Ser)
c.1114C>T (p.Pro372Ser)
c.619C>T (p.Pro207Ser)
c.430C>T (p.Pro144Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716507C>ACA377450482LDB3n.515-2220C>A
c.1223C>A (p.Pro408His)
c.1271C>A (p.Pro424His)
c.1412C>A (p.Pro471His)
c.1082C>A (p.Pro361His)
c.1427C>A (p.Pro476His)
c.1664C>A (p.Pro555His)
c.1616C>A (p.Pro539His)
c.1475C>A (p.Pro492His)
c.1460C>A (p.Pro487His)
c.1319C>A (p.Pro440His)
c.1130C>A (p.Pro377His)
c.1115C>A (p.Pro372His)
c.620C>A (p.Pro207His)
c.431C>A (p.Pro144His)
10g.86716507C>GCA377450483LDB3n.515-2220C>G
c.1223C>G (p.Pro408Arg)
c.1271C>G (p.Pro424Arg)
c.1412C>G (p.Pro471Arg)
c.1082C>G (p.Pro361Arg)
c.1427C>G (p.Pro476Arg)
c.1664C>G (p.Pro555Arg)
c.1616C>G (p.Pro539Arg)
c.1475C>G (p.Pro492Arg)
c.1460C>G (p.Pro487Arg)
c.1319C>G (p.Pro440Arg)
c.1130C>G (p.Pro377Arg)
c.1115C>G (p.Pro372Arg)
c.620C>G (p.Pro207Arg)
c.431C>G (p.Pro144Arg)
10g.86716507C>TCA377450486LDB3n.515-2220C>T
c.1223C>T (p.Pro408Leu)
c.1271C>T (p.Pro424Leu)
c.1412C>T (p.Pro471Leu)
c.1082C>T (p.Pro361Leu)
c.1427C>T (p.Pro476Leu)
c.1664C>T (p.Pro555Leu)
c.1616C>T (p.Pro539Leu)
c.1475C>T (p.Pro492Leu)
c.1460C>T (p.Pro487Leu)
c.1319C>T (p.Pro440Leu)
c.1130C>T (p.Pro377Leu)
c.1115C>T (p.Pro372Leu)
c.620C>T (p.Pro207Leu)
c.431C>T (p.Pro144Leu)
 gnomAD v4
10g.86716508T>ACA470375206LDB3n.515-2219T>A
c.1224T>A (p.Pro408=)
c.1272T>A (p.Pro424=)
c.1413T>A (p.Pro471=)
c.1083T>A (p.Pro361=)
c.1428T>A (p.Pro476=)
c.1665T>A (p.Pro555=)
c.1617T>A (p.Pro539=)
c.1476T>A (p.Pro492=)
c.1461T>A (p.Pro487=)
c.1320T>A (p.Pro440=)
c.1131T>A (p.Pro377=)
c.1116T>A (p.Pro372=)
c.621T>A (p.Pro207=)
c.432T>A (p.Pro144=)
10g.86716508T>CCA470375208LDB3n.515-2219T>C
c.1224T>C (p.Pro408=)
c.1272T>C (p.Pro424=)
c.1413T>C (p.Pro471=)
c.1083T>C (p.Pro361=)
c.1428T>C (p.Pro476=)
c.1665T>C (p.Pro555=)
c.1617T>C (p.Pro539=)
c.1476T>C (p.Pro492=)
c.1461T>C (p.Pro487=)
c.1320T>C (p.Pro440=)
c.1131T>C (p.Pro377=)
c.1116T>C (p.Pro372=)
c.621T>C (p.Pro207=)
c.432T>C (p.Pro144=)
10g.86716508T>GCA470375210LDB3n.515-2219T>G
c.1224T>G (p.Pro408=)
c.1272T>G (p.Pro424=)
c.1413T>G (p.Pro471=)
c.1083T>G (p.Pro361=)
c.1428T>G (p.Pro476=)
c.1665T>G (p.Pro555=)
c.1617T>G (p.Pro539=)
c.1476T>G (p.Pro492=)
c.1461T>G (p.Pro487=)
c.1320T>G (p.Pro440=)
c.1131T>G (p.Pro377=)
c.1116T>G (p.Pro372=)
c.621T>G (p.Pro207=)
c.432T>G (p.Pro144=)
10g.86716509G>ACA377450489LDB3n.515-2218G>A
c.1225G>A (p.Ala409Thr)
c.1273G>A (p.Ala425Thr)
c.1414G>A (p.Ala472Thr)
c.1084G>A (p.Ala362Thr)
c.1429G>A (p.Ala477Thr)
c.1666G>A (p.Ala556Thr)
c.1618G>A (p.Ala540Thr)
c.1477G>A (p.Ala493Thr)
c.1462G>A (p.Ala488Thr)
c.1321G>A (p.Ala441Thr)
c.1132G>A (p.Ala378Thr)
c.1117G>A (p.Ala373Thr)
c.622G>A (p.Ala208Thr)
c.433G>A (p.Ala145Thr)
10g.86716509G>CCA5585155LDB3n.515-2218G>C
c.1225G>C (p.Ala409Pro)
c.1273G>C (p.Ala425Pro)
c.1414G>C (p.Ala472Pro)
c.1084G>C (p.Ala362Pro)
c.1429G>C (p.Ala477Pro)
c.1666G>C (p.Ala556Pro)
c.1618G>C (p.Ala540Pro)
c.1477G>C (p.Ala493Pro)
c.1462G>C (p.Ala488Pro)
c.1321G>C (p.Ala441Pro)
c.1132G>C (p.Ala378Pro)
c.1117G>C (p.Ala373Pro)
c.622G>C (p.Ala208Pro)
c.433G>C (p.Ala145Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716509G=CA1925631908LDB3n.515-2218G=
c.1225G= (p.Ala409=)
c.1273G= (p.Ala425=)
c.1414G= (p.Ala472=)
c.1084G= (p.Ala362=)
c.1429G= (p.Ala477=)
c.1666G= (p.Ala556=)
c.1618G= (p.Ala540=)
c.1477G= (p.Ala493=)
c.1462G= (p.Ala488=)
c.1321G= (p.Ala441=)
c.1132G= (p.Ala378=)
c.1117G= (p.Ala373=)
c.622G= (p.Ala208=)
c.433G= (p.Ala145=)
10g.86716509G>TCA377450494LDB3n.515-2218G>T
c.1225G>T (p.Ala409Ser)
c.1273G>T (p.Ala425Ser)
c.1414G>T (p.Ala472Ser)
c.1084G>T (p.Ala362Ser)
c.1429G>T (p.Ala477Ser)
c.1666G>T (p.Ala556Ser)
c.1618G>T (p.Ala540Ser)
c.1477G>T (p.Ala493Ser)
c.1462G>T (p.Ala488Ser)
c.1321G>T (p.Ala441Ser)
c.1132G>T (p.Ala378Ser)
c.1117G>T (p.Ala373Ser)
c.622G>T (p.Ala208Ser)
c.433G>T (p.Ala145Ser)
 dbSNP
10g.86716510C>ACA377450506LDB3n.515-2217C>A
c.1226C>A (p.Ala409Glu)
c.1274C>A (p.Ala425Glu)
c.1415C>A (p.Ala472Glu)
c.1085C>A (p.Ala362Glu)
c.1430C>A (p.Ala477Glu)
c.1667C>A (p.Ala556Glu)
c.1619C>A (p.Ala540Glu)
c.1478C>A (p.Ala493Glu)
c.1463C>A (p.Ala488Glu)
c.1322C>A (p.Ala441Glu)
c.1133C>A (p.Ala378Glu)
c.1118C>A (p.Ala373Glu)
c.623C>A (p.Ala208Glu)
c.434C>A (p.Ala145Glu)
10g.86716510C>GCA377450510LDB3n.515-2217C>G
c.1226C>G (p.Ala409Gly)
c.1274C>G (p.Ala425Gly)
c.1415C>G (p.Ala472Gly)
c.1085C>G (p.Ala362Gly)
c.1430C>G (p.Ala477Gly)
c.1667C>G (p.Ala556Gly)
c.1619C>G (p.Ala540Gly)
c.1478C>G (p.Ala493Gly)
c.1463C>G (p.Ala488Gly)
c.1322C>G (p.Ala441Gly)
c.1133C>G (p.Ala378Gly)
c.1118C>G (p.Ala373Gly)
c.623C>G (p.Ala208Gly)
c.434C>G (p.Ala145Gly)
10g.86716510C>TCA377450513LDB3n.515-2217C>T
c.1226C>T (p.Ala409Val)
c.1274C>T (p.Ala425Val)
c.1415C>T (p.Ala472Val)
c.1085C>T (p.Ala362Val)
c.1430C>T (p.Ala477Val)
c.1667C>T (p.Ala556Val)
c.1619C>T (p.Ala540Val)
c.1478C>T (p.Ala493Val)
c.1463C>T (p.Ala488Val)
c.1322C>T (p.Ala441Val)
c.1133C>T (p.Ala378Val)
c.1118C>T (p.Ala373Val)
c.623C>T (p.Ala208Val)
c.434C>T (p.Ala145Val)
 gnomAD v4
10g.86716511A>CCA470375220LDB3n.515-2216A>C
c.1227A>C (p.Ala409=)
c.1275A>C (p.Ala425=)
c.1416A>C (p.Ala472=)
c.1086A>C (p.Ala362=)
c.1431A>C (p.Ala477=)
c.1668A>C (p.Ala556=)
c.1620A>C (p.Ala540=)
c.1479A>C (p.Ala493=)
c.1464A>C (p.Ala488=)
c.1323A>C (p.Ala441=)
c.1134A>C (p.Ala378=)
c.1119A>C (p.Ala373=)
c.624A>C (p.Ala208=)
c.435A>C (p.Ala145=)
10g.86716511A>GCA470375221LDB3n.515-2216A>G
c.1227A>G (p.Ala409=)
c.1275A>G (p.Ala425=)
c.1416A>G (p.Ala472=)
c.1086A>G (p.Ala362=)
c.1431A>G (p.Ala477=)
c.1668A>G (p.Ala556=)
c.1620A>G (p.Ala540=)
c.1479A>G (p.Ala493=)
c.1464A>G (p.Ala488=)
c.1323A>G (p.Ala441=)
c.1134A>G (p.Ala378=)
c.1119A>G (p.Ala373=)
c.624A>G (p.Ala208=)
c.435A>G (p.Ala145=)
 gnomAD v4
10g.86716511A>TCA470375223LDB3n.515-2216A>T
c.1227A>T (p.Ala409=)
c.1275A>T (p.Ala425=)
c.1416A>T (p.Ala472=)
c.1086A>T (p.Ala362=)
c.1431A>T (p.Ala477=)
c.1668A>T (p.Ala556=)
c.1620A>T (p.Ala540=)
c.1479A>T (p.Ala493=)
c.1464A>T (p.Ala488=)
c.1323A>T (p.Ala441=)
c.1134A>T (p.Ala378=)
c.1119A>T (p.Ala373=)
c.624A>T (p.Ala208=)
c.435A>T (p.Ala145=)
10g.86716512C>ACA377450521LDB3n.515-2215C>A
c.1228C>A (p.Pro410Thr)
c.1276C>A (p.Pro426Thr)
c.1417C>A (p.Pro473Thr)
c.1087C>A (p.Pro363Thr)
c.1432C>A (p.Pro478Thr)
c.1669C>A (p.Pro557Thr)
c.1621C>A (p.Pro541Thr)
c.1480C>A (p.Pro494Thr)
c.1465C>A (p.Pro489Thr)
c.1324C>A (p.Pro442Thr)
c.1135C>A (p.Pro379Thr)
c.1120C>A (p.Pro374Thr)
c.625C>A (p.Pro209Thr)
c.436C>A (p.Pro146Thr)
 gnomAD v4
10g.86716512C=CA1925631909LDB3n.515-2215C=
c.1228C= (p.Pro410=)
c.1276C= (p.Pro426=)
c.1417C= (p.Pro473=)
c.1087C= (p.Pro363=)
c.1432C= (p.Pro478=)
c.1669C= (p.Pro557=)
c.1621C= (p.Pro541=)
c.1480C= (p.Pro494=)
c.1465C= (p.Pro489=)
c.1324C= (p.Pro442=)
c.1135C= (p.Pro379=)
c.1120C= (p.Pro374=)
c.625C= (p.Pro209=)
c.436C= (p.Pro146=)
10g.86716512C>GCA377450519LDB3n.515-2215C>G
c.1228C>G (p.Pro410Ala)
c.1276C>G (p.Pro426Ala)
c.1417C>G (p.Pro473Ala)
c.1087C>G (p.Pro363Ala)
c.1432C>G (p.Pro478Ala)
c.1669C>G (p.Pro557Ala)
c.1621C>G (p.Pro541Ala)
c.1480C>G (p.Pro494Ala)
c.1465C>G (p.Pro489Ala)
c.1324C>G (p.Pro442Ala)
c.1135C>G (p.Pro379Ala)
c.1120C>G (p.Pro374Ala)
c.625C>G (p.Pro209Ala)
c.436C>G (p.Pro146Ala)
10g.86716512C>TCA211205304LDB3n.515-2215C>T
c.1228C>T (p.Pro410Ser)
c.1276C>T (p.Pro426Ser)
c.1417C>T (p.Pro473Ser)
c.1087C>T (p.Pro363Ser)
c.1432C>T (p.Pro478Ser)
c.1669C>T (p.Pro557Ser)
c.1621C>T (p.Pro541Ser)
c.1480C>T (p.Pro494Ser)
c.1465C>T (p.Pro489Ser)
c.1324C>T (p.Pro442Ser)
c.1135C>T (p.Pro379Ser)
c.1120C>T (p.Pro374Ser)
c.625C>T (p.Pro209Ser)
c.436C>T (p.Pro146Ser)
 dbSNP gnomAD v2 gnomAD v4
10g.86716513C>ACA5585156LDB3n.515-2214C>A
c.1229C>A (p.Pro410His)
c.1277C>A (p.Pro426His)
c.1418C>A (p.Pro473His)
c.1088C>A (p.Pro363His)
c.1433C>A (p.Pro478His)
c.1670C>A (p.Pro557His)
c.1622C>A (p.Pro541His)
c.1481C>A (p.Pro494His)
c.1466C>A (p.Pro489His)
c.1325C>A (p.Pro442His)
c.1136C>A (p.Pro379His)
c.1121C>A (p.Pro374His)
c.626C>A (p.Pro209His)
c.437C>A (p.Pro146His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716513C=CA1925631910LDB3n.515-2214C=
c.1229C= (p.Pro410=)
c.1277C= (p.Pro426=)
c.1418C= (p.Pro473=)
c.1088C= (p.Pro363=)
c.1433C= (p.Pro478=)
c.1670C= (p.Pro557=)
c.1622C= (p.Pro541=)
c.1481C= (p.Pro494=)
c.1466C= (p.Pro489=)
c.1325C= (p.Pro442=)
c.1136C= (p.Pro379=)
c.1121C= (p.Pro374=)
c.626C= (p.Pro209=)
c.437C= (p.Pro146=)
10g.86716513C>GCA377450525LDB3n.515-2214C>G
c.1229C>G (p.Pro410Arg)
c.1277C>G (p.Pro426Arg)
c.1418C>G (p.Pro473Arg)
c.1088C>G (p.Pro363Arg)
c.1433C>G (p.Pro478Arg)
c.1670C>G (p.Pro557Arg)
c.1622C>G (p.Pro541Arg)
c.1481C>G (p.Pro494Arg)
c.1466C>G (p.Pro489Arg)
c.1325C>G (p.Pro442Arg)
c.1136C>G (p.Pro379Arg)
c.1121C>G (p.Pro374Arg)
c.626C>G (p.Pro209Arg)
c.437C>G (p.Pro146Arg)
10g.86716513C>TCA377450523LDB3n.515-2214C>T
c.1229C>T (p.Pro410Leu)
c.1277C>T (p.Pro426Leu)
c.1418C>T (p.Pro473Leu)
c.1088C>T (p.Pro363Leu)
c.1433C>T (p.Pro478Leu)
c.1670C>T (p.Pro557Leu)
c.1622C>T (p.Pro541Leu)
c.1481C>T (p.Pro494Leu)
c.1466C>T (p.Pro489Leu)
c.1325C>T (p.Pro442Leu)
c.1136C>T (p.Pro379Leu)
c.1121C>T (p.Pro374Leu)
c.626C>T (p.Pro209Leu)
c.437C>T (p.Pro146Leu)
10g.86716514C>ACA470375235LDB3n.515-2213C>A
c.1230C>A (p.Pro410=)
c.1278C>A (p.Pro426=)
c.1419C>A (p.Pro473=)
c.1089C>A (p.Pro363=)
c.1434C>A (p.Pro478=)
c.1671C>A (p.Pro557=)
c.1623C>A (p.Pro541=)
c.1482C>A (p.Pro494=)
c.1467C>A (p.Pro489=)
c.1326C>A (p.Pro442=)
c.1137C>A (p.Pro379=)
c.1122C>A (p.Pro374=)
c.627C>A (p.Pro209=)
c.438C>A (p.Pro146=)
10g.86716514C=CA1925631911LDB3n.515-2213C=
c.1230C= (p.Pro410=)
c.1278C= (p.Pro426=)
c.1419C= (p.Pro473=)
c.1089C= (p.Pro363=)
c.1434C= (p.Pro478=)
c.1671C= (p.Pro557=)
c.1623C= (p.Pro541=)
c.1482C= (p.Pro494=)
c.1467C= (p.Pro489=)
c.1326C= (p.Pro442=)
c.1137C= (p.Pro379=)
c.1122C= (p.Pro374=)
c.627C= (p.Pro209=)
c.438C= (p.Pro146=)
10g.86716514C>GCA470375236LDB3n.515-2213C>G
c.1230C>G (p.Pro410=)
c.1278C>G (p.Pro426=)
c.1419C>G (p.Pro473=)
c.1089C>G (p.Pro363=)
c.1434C>G (p.Pro478=)
c.1671C>G (p.Pro557=)
c.1623C>G (p.Pro541=)
c.1482C>G (p.Pro494=)
c.1467C>G (p.Pro489=)
c.1326C>G (p.Pro442=)
c.1137C>G (p.Pro379=)
c.1122C>G (p.Pro374=)
c.627C>G (p.Pro209=)
c.438C>G (p.Pro146=)
10g.86716514C>TCA5585157LDB3n.515-2213C>T
c.1230C>T (p.Pro410=)
c.1278C>T (p.Pro426=)
c.1419C>T (p.Pro473=)
c.1089C>T (p.Pro363=)
c.1434C>T (p.Pro478=)
c.1671C>T (p.Pro557=)
c.1623C>T (p.Pro541=)
c.1482C>T (p.Pro494=)
c.1467C>T (p.Pro489=)
c.1326C>T (p.Pro442=)
c.1137C>T (p.Pro379=)
c.1122C>T (p.Pro374=)
c.627C>T (p.Pro209=)
c.438C>T (p.Pro146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716515T>ACA377450532LDB3n.515-2212T>A
c.1231T>A (p.Ser411Thr)
c.1279T>A (p.Ser427Thr)
c.1420T>A (p.Ser474Thr)
c.1090T>A (p.Ser364Thr)
c.1435T>A (p.Ser479Thr)
c.1672T>A (p.Ser558Thr)
c.1624T>A (p.Ser542Thr)
c.1483T>A (p.Ser495Thr)
c.1468T>A (p.Ser490Thr)
c.1327T>A (p.Ser443Thr)
c.1138T>A (p.Ser380Thr)
c.1123T>A (p.Ser375Thr)
c.628T>A (p.Ser210Thr)
c.439T>A (p.Ser147Thr)
10g.86716515T>CCA377450533LDB3n.515-2212T>C
c.1231T>C (p.Ser411Pro)
c.1279T>C (p.Ser427Pro)
c.1420T>C (p.Ser474Pro)
c.1090T>C (p.Ser364Pro)
c.1435T>C (p.Ser479Pro)
c.1672T>C (p.Ser558Pro)
c.1624T>C (p.Ser542Pro)
c.1483T>C (p.Ser495Pro)
c.1468T>C (p.Ser490Pro)
c.1327T>C (p.Ser443Pro)
c.1138T>C (p.Ser380Pro)
c.1123T>C (p.Ser375Pro)
c.628T>C (p.Ser210Pro)
c.439T>C (p.Ser147Pro)
 gnomAD v4
10g.86716515T>GCA377450534LDB3n.515-2212T>G
c.1231T>G (p.Ser411Ala)
c.1279T>G (p.Ser427Ala)
c.1420T>G (p.Ser474Ala)
c.1090T>G (p.Ser364Ala)
c.1435T>G (p.Ser479Ala)
c.1672T>G (p.Ser558Ala)
c.1624T>G (p.Ser542Ala)
c.1483T>G (p.Ser495Ala)
c.1468T>G (p.Ser490Ala)
c.1327T>G (p.Ser443Ala)
c.1138T>G (p.Ser380Ala)
c.1123T>G (p.Ser375Ala)
c.628T>G (p.Ser210Ala)
c.439T>G (p.Ser147Ala)
10g.86716516C>ACA377450535LDB3n.515-2211C>A
c.1232C>A (p.Ser411Ter)
c.1280C>A (p.Ser427Ter)
c.1421C>A (p.Ser474Ter)
c.1091C>A (p.Ser364Ter)
c.1436C>A (p.Ser479Ter)
c.1673C>A (p.Ser558Ter)
c.1625C>A (p.Ser542Ter)
c.1484C>A (p.Ser495Ter)
c.1469C>A (p.Ser490Ter)
c.1328C>A (p.Ser443Ter)
c.1139C>A (p.Ser380Ter)
c.1124C>A (p.Ser375Ter)
c.629C>A (p.Ser210Ter)
c.440C>A (p.Ser147Ter)
 COSMIC COSMIC COSMIC
10g.86716516C=CA1925631912LDB3n.515-2211C=
c.1232C= (p.Ser411=)
c.1280C= (p.Ser427=)
c.1421C= (p.Ser474=)
c.1091C= (p.Ser364=)
c.1436C= (p.Ser479=)
c.1673C= (p.Ser558=)
c.1625C= (p.Ser542=)
c.1484C= (p.Ser495=)
c.1469C= (p.Ser490=)
c.1328C= (p.Ser443=)
c.1139C= (p.Ser380=)
c.1124C= (p.Ser375=)
c.629C= (p.Ser210=)
c.440C= (p.Ser147=)
10g.86716516C>GCA377450536LDB3n.515-2211C>G
c.1232C>G (p.Ser411Trp)
c.1280C>G (p.Ser427Trp)
c.1421C>G (p.Ser474Trp)
c.1091C>G (p.Ser364Trp)
c.1436C>G (p.Ser479Trp)
c.1673C>G (p.Ser558Trp)
c.1625C>G (p.Ser542Trp)
c.1484C>G (p.Ser495Trp)
c.1469C>G (p.Ser490Trp)
c.1328C>G (p.Ser443Trp)
c.1139C>G (p.Ser380Trp)
c.1124C>G (p.Ser375Trp)
c.629C>G (p.Ser210Trp)
c.440C>G (p.Ser147Trp)
10g.86716516C>TCA211205329LDB3n.515-2211C>T
c.1232C>T (p.Ser411Leu)
c.1280C>T (p.Ser427Leu)
c.1421C>T (p.Ser474Leu)
c.1091C>T (p.Ser364Leu)
c.1436C>T (p.Ser479Leu)
c.1673C>T (p.Ser558Leu)
c.1625C>T (p.Ser542Leu)
c.1484C>T (p.Ser495Leu)
c.1469C>T (p.Ser490Leu)
c.1328C>T (p.Ser443Leu)
c.1139C>T (p.Ser380Leu)
c.1124C>T (p.Ser375Leu)
c.629C>T (p.Ser210Leu)
c.440C>T (p.Ser147Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.86716517G>ACA136508LDB3n.515-2210G>A
c.1233G>A (p.Ser411=)
c.1281G>A (p.Ser427=)
c.1422G>A (p.Ser474=)
c.1092G>A (p.Ser364=)
c.1437G>A (p.Ser479=)
c.1674G>A (p.Ser558=)
c.1626G>A (p.Ser542=)
c.1485G>A (p.Ser495=)
c.1470G>A (p.Ser490=)
c.1329G>A (p.Ser443=)
c.1140G>A (p.Ser380=)
c.1125G>A (p.Ser375=)
c.630G>A (p.Ser210=)
c.441G>A (p.Ser147=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716517G>CCA470375253LDB3n.515-2210G>C
c.1233G>C (p.Ser411=)
c.1281G>C (p.Ser427=)
c.1422G>C (p.Ser474=)
c.1092G>C (p.Ser364=)
c.1437G>C (p.Ser479=)
c.1674G>C (p.Ser558=)
c.1626G>C (p.Ser542=)
c.1485G>C (p.Ser495=)
c.1470G>C (p.Ser490=)
c.1329G>C (p.Ser443=)
c.1140G>C (p.Ser380=)
c.1125G>C (p.Ser375=)
c.630G>C (p.Ser210=)
c.441G>C (p.Ser147=)
 dbSNP gnomAD v2 gnomAD v4
10g.86716517G=CA1925631913LDB3n.515-2210G=
c.1233G= (p.Ser411=)
c.1281G= (p.Ser427=)
c.1422G= (p.Ser474=)
c.1092G= (p.Ser364=)
c.1437G= (p.Ser479=)
c.1674G= (p.Ser558=)
c.1626G= (p.Ser542=)
c.1485G= (p.Ser495=)
c.1470G= (p.Ser490=)
c.1329G= (p.Ser443=)
c.1140G= (p.Ser380=)
c.1125G= (p.Ser375=)
c.630G= (p.Ser210=)
c.441G= (p.Ser147=)
10g.86716517G>TCA470375250LDB3n.515-2210G>T
c.1233G>T (p.Ser411=)
c.1281G>T (p.Ser427=)
c.1422G>T (p.Ser474=)
c.1092G>T (p.Ser364=)
c.1437G>T (p.Ser479=)
c.1674G>T (p.Ser558=)
c.1626G>T (p.Ser542=)
c.1485G>T (p.Ser495=)
c.1470G>T (p.Ser490=)
c.1329G>T (p.Ser443=)
c.1140G>T (p.Ser380=)
c.1125G>T (p.Ser375=)
c.630G>T (p.Ser210=)
c.441G>T (p.Ser147=)
 dbSNP gnomAD v3 gnomAD v4
10g.86716518G>ACA377450542LDB3n.515-2209G>A
c.1234G>A (p.Val412Met)
c.1282G>A (p.Val428Met)
c.1423G>A (p.Val475Met)
c.1093G>A (p.Val365Met)
c.1438G>A (p.Val480Met)
c.1675G>A (p.Val559Met)
c.1627G>A (p.Val543Met)
c.1486G>A (p.Val496Met)
c.1471G>A (p.Val491Met)
c.1330G>A (p.Val444Met)
c.1141G>A (p.Val381Met)
c.1126G>A (p.Val376Met)
c.631G>A (p.Val211Met)
c.442G>A (p.Val148Met)
10g.86716518G>CCA377450547LDB3n.515-2209G>C
c.1234G>C (p.Val412Leu)
c.1282G>C (p.Val428Leu)
c.1423G>C (p.Val475Leu)
c.1093G>C (p.Val365Leu)
c.1438G>C (p.Val480Leu)
c.1675G>C (p.Val559Leu)
c.1627G>C (p.Val543Leu)
c.1486G>C (p.Val496Leu)
c.1471G>C (p.Val491Leu)
c.1330G>C (p.Val444Leu)
c.1141G>C (p.Val381Leu)
c.1126G>C (p.Val376Leu)
c.631G>C (p.Val211Leu)
c.442G>C (p.Val148Leu)
10g.86716518G>TCA377450549LDB3n.515-2209G>T
c.1234G>T (p.Val412Leu)
c.1282G>T (p.Val428Leu)
c.1423G>T (p.Val475Leu)
c.1093G>T (p.Val365Leu)
c.1438G>T (p.Val480Leu)
c.1675G>T (p.Val559Leu)
c.1627G>T (p.Val543Leu)
c.1486G>T (p.Val496Leu)
c.1471G>T (p.Val491Leu)
c.1330G>T (p.Val444Leu)
c.1141G>T (p.Val381Leu)
c.1126G>T (p.Val376Leu)
c.631G>T (p.Val211Leu)
c.442G>T (p.Val148Leu)
10g.86716519T>ACA377450556LDB3n.515-2208T>A
c.1235T>A (p.Val412Glu)
c.1283T>A (p.Val428Glu)
c.1424T>A (p.Val475Glu)
c.1094T>A (p.Val365Glu)
c.1439T>A (p.Val480Glu)
c.1676T>A (p.Val559Glu)
c.1628T>A (p.Val543Glu)
c.1487T>A (p.Val496Glu)
c.1472T>A (p.Val491Glu)
c.1331T>A (p.Val444Glu)
c.1142T>A (p.Val381Glu)
c.1127T>A (p.Val376Glu)
c.632T>A (p.Val211Glu)
c.443T>A (p.Val148Glu)
10g.86716519T>CCA377450554LDB3n.515-2208T>C
c.1235T>C (p.Val412Ala)
c.1283T>C (p.Val428Ala)
c.1424T>C (p.Val475Ala)
c.1094T>C (p.Val365Ala)
c.1439T>C (p.Val480Ala)
c.1676T>C (p.Val559Ala)
c.1628T>C (p.Val543Ala)
c.1487T>C (p.Val496Ala)
c.1472T>C (p.Val491Ala)
c.1331T>C (p.Val444Ala)
c.1142T>C (p.Val381Ala)
c.1127T>C (p.Val376Ala)
c.632T>C (p.Val211Ala)
c.443T>C (p.Val148Ala)
10g.86716519T>GCA377450552LDB3n.515-2208T>G
c.1235T>G (p.Val412Gly)
c.1283T>G (p.Val428Gly)
c.1424T>G (p.Val475Gly)
c.1094T>G (p.Val365Gly)
c.1439T>G (p.Val480Gly)
c.1676T>G (p.Val559Gly)
c.1628T>G (p.Val543Gly)
c.1487T>G (p.Val496Gly)
c.1472T>G (p.Val491Gly)
c.1331T>G (p.Val444Gly)
c.1142T>G (p.Val381Gly)
c.1127T>G (p.Val376Gly)
c.632T>G (p.Val211Gly)
c.443T>G (p.Val148Gly)
10g.86716520G>ACA470375260LDB3n.515-2207G>A
c.1236G>A (p.Val412=)
c.1284G>A (p.Val428=)
c.1425G>A (p.Val475=)
c.1095G>A (p.Val365=)
c.1440G>A (p.Val480=)
c.1677G>A (p.Val559=)
c.1629G>A (p.Val543=)
c.1488G>A (p.Val496=)
c.1473G>A (p.Val491=)
c.1332G>A (p.Val444=)
c.1143G>A (p.Val381=)
c.1128G>A (p.Val376=)
c.633G>A (p.Val211=)
c.444G>A (p.Val148=)
10g.86716520G>CCA470375262LDB3n.515-2207G>C
c.1236G>C (p.Val412=)
c.1284G>C (p.Val428=)
c.1425G>C (p.Val475=)
c.1095G>C (p.Val365=)
c.1440G>C (p.Val480=)
c.1677G>C (p.Val559=)
c.1629G>C (p.Val543=)
c.1488G>C (p.Val496=)
c.1473G>C (p.Val491=)
c.1332G>C (p.Val444=)
c.1143G>C (p.Val381=)
c.1128G>C (p.Val376=)
c.633G>C (p.Val211=)
c.444G>C (p.Val148=)
10g.86716520G>TCA470375264LDB3n.515-2207G>T
c.1236G>T (p.Val412=)
c.1284G>T (p.Val428=)
c.1425G>T (p.Val475=)
c.1095G>T (p.Val365=)
c.1440G>T (p.Val480=)
c.1677G>T (p.Val559=)
c.1629G>T (p.Val543=)
c.1488G>T (p.Val496=)
c.1473G>T (p.Val491=)
c.1332G>T (p.Val444=)
c.1143G>T (p.Val381=)
c.1128G>T (p.Val376=)
c.633G>T (p.Val211=)
c.444G>T (p.Val148=)
10g.86716521G>ACA377450563LDB3n.515-2206G>A
c.1237G>A (p.Ala413Thr)
c.1285G>A (p.Ala429Thr)
c.1426G>A (p.Ala476Thr)
c.1096G>A (p.Ala366Thr)
c.1441G>A (p.Ala481Thr)
c.1678G>A (p.Ala560Thr)
c.1630G>A (p.Ala544Thr)
c.1489G>A (p.Ala497Thr)
c.1474G>A (p.Ala492Thr)
c.1333G>A (p.Ala445Thr)
c.1144G>A (p.Ala382Thr)
c.1129G>A (p.Ala377Thr)
c.634G>A (p.Ala212Thr)
c.445G>A (p.Ala149Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86716521G>CCA377450565LDB3n.515-2206G>C
c.1237G>C (p.Ala413Pro)
c.1285G>C (p.Ala429Pro)
c.1426G>C (p.Ala476Pro)
c.1096G>C (p.Ala366Pro)
c.1441G>C (p.Ala481Pro)
c.1678G>C (p.Ala560Pro)
c.1630G>C (p.Ala544Pro)
c.1489G>C (p.Ala497Pro)
c.1474G>C (p.Ala492Pro)
c.1333G>C (p.Ala445Pro)
c.1144G>C (p.Ala382Pro)
c.1129G>C (p.Ala377Pro)
c.634G>C (p.Ala212Pro)
c.445G>C (p.Ala149Pro)
10g.86716521G=CA1925631914LDB3n.515-2206G=
c.1237G= (p.Ala413=)
c.1285G= (p.Ala429=)
c.1426G= (p.Ala476=)
c.1096G= (p.Ala366=)
c.1441G= (p.Ala481=)
c.1678G= (p.Ala560=)
c.1630G= (p.Ala544=)
c.1489G= (p.Ala497=)
c.1474G= (p.Ala492=)
c.1333G= (p.Ala445=)
c.1144G= (p.Ala382=)
c.1129G= (p.Ala377=)
c.634G= (p.Ala212=)
c.445G= (p.Ala149=)
10g.86716521G>TCA377450581LDB3n.515-2206G>T
c.1237G>T (p.Ala413Ser)
c.1285G>T (p.Ala429Ser)
c.1426G>T (p.Ala476Ser)
c.1096G>T (p.Ala366Ser)
c.1441G>T (p.Ala481Ser)
c.1678G>T (p.Ala560Ser)
c.1630G>T (p.Ala544Ser)
c.1489G>T (p.Ala497Ser)
c.1474G>T (p.Ala492Ser)
c.1333G>T (p.Ala445Ser)
c.1144G>T (p.Ala382Ser)
c.1129G>T (p.Ala377Ser)
c.634G>T (p.Ala212Ser)
c.445G>T (p.Ala149Ser)
 ClinVar dbSNP
10g.86716522C>ACA377450585LDB3n.515-2205C>A
c.1238C>A (p.Ala413Asp)
c.1286C>A (p.Ala429Asp)
c.1427C>A (p.Ala476Asp)
c.1097C>A (p.Ala366Asp)
c.1442C>A (p.Ala481Asp)
c.1679C>A (p.Ala560Asp)
c.1631C>A (p.Ala544Asp)
c.1490C>A (p.Ala497Asp)
c.1475C>A (p.Ala492Asp)
c.1334C>A (p.Ala445Asp)
c.1145C>A (p.Ala382Asp)
c.1130C>A (p.Ala377Asp)
c.635C>A (p.Ala212Asp)
c.446C>A (p.Ala149Asp)
10g.86716522C=CA1925631915LDB3n.515-2205C=
c.1238C= (p.Ala413=)
c.1286C= (p.Ala429=)
c.1427C= (p.Ala476=)
c.1097C= (p.Ala366=)
c.1442C= (p.Ala481=)
c.1679C= (p.Ala560=)
c.1631C= (p.Ala544=)
c.1490C= (p.Ala497=)
c.1475C= (p.Ala492=)
c.1334C= (p.Ala445=)
c.1145C= (p.Ala382=)
c.1130C= (p.Ala377=)
c.635C= (p.Ala212=)
c.446C= (p.Ala149=)
10g.86716522C>GCA377450594LDB3n.515-2205C>G
c.1238C>G (p.Ala413Gly)
c.1286C>G (p.Ala429Gly)
c.1427C>G (p.Ala476Gly)
c.1097C>G (p.Ala366Gly)
c.1442C>G (p.Ala481Gly)
c.1679C>G (p.Ala560Gly)
c.1631C>G (p.Ala544Gly)
c.1490C>G (p.Ala497Gly)
c.1475C>G (p.Ala492Gly)
c.1334C>G (p.Ala445Gly)
c.1145C>G (p.Ala382Gly)
c.1130C>G (p.Ala377Gly)
c.635C>G (p.Ala212Gly)
c.446C>G (p.Ala149Gly)
10g.86716522C>TCA5585158LDB3n.515-2205C>T
c.1238C>T (p.Ala413Val)
c.1286C>T (p.Ala429Val)
c.1427C>T (p.Ala476Val)
c.1097C>T (p.Ala366Val)
c.1442C>T (p.Ala481Val)
c.1679C>T (p.Ala560Val)
c.1631C>T (p.Ala544Val)
c.1490C>T (p.Ala497Val)
c.1475C>T (p.Ala492Val)
c.1334C>T (p.Ala445Val)
c.1145C>T (p.Ala382Val)
c.1130C>T (p.Ala377Val)
c.635C>T (p.Ala212Val)
c.446C>T (p.Ala149Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716523C>ACA470375273LDB3n.515-2204C>A
c.1239C>A (p.Ala413=)
c.1287C>A (p.Ala429=)
c.1428C>A (p.Ala476=)
c.1098C>A (p.Ala366=)
c.1443C>A (p.Ala481=)
c.1680C>A (p.Ala560=)
c.1632C>A (p.Ala544=)
c.1491C>A (p.Ala497=)
c.1476C>A (p.Ala492=)
c.1335C>A (p.Ala445=)
c.1146C>A (p.Ala382=)
c.1131C>A (p.Ala377=)
c.636C>A (p.Ala212=)
c.447C>A (p.Ala149=)
10g.86716523C>GCA470375275LDB3n.515-2204C>G
c.1239C>G (p.Ala413=)
c.1287C>G (p.Ala429=)
c.1428C>G (p.Ala476=)
c.1098C>G (p.Ala366=)
c.1443C>G (p.Ala481=)
c.1680C>G (p.Ala560=)
c.1632C>G (p.Ala544=)
c.1491C>G (p.Ala497=)
c.1476C>G (p.Ala492=)
c.1335C>G (p.Ala445=)
c.1146C>G (p.Ala382=)
c.1131C>G (p.Ala377=)
c.636C>G (p.Ala212=)
c.447C>G (p.Ala149=)
10g.86716523C>TCA470375277LDB3n.515-2204C>T
c.1239C>T (p.Ala413=)
c.1287C>T (p.Ala429=)
c.1428C>T (p.Ala476=)
c.1098C>T (p.Ala366=)
c.1443C>T (p.Ala481=)
c.1680C>T (p.Ala560=)
c.1632C>T (p.Ala544=)
c.1491C>T (p.Ala497=)
c.1476C>T (p.Ala492=)
c.1335C>T (p.Ala445=)
c.1146C>T (p.Ala382=)
c.1131C>T (p.Ala377=)
c.636C>T (p.Ala212=)
c.447C>T (p.Ala149=)
 gnomAD v4
10g.86716524T>ACA377450599LDB3n.515-2203T>A
c.1240T>A (p.Tyr414Asn)
c.1288T>A (p.Tyr430Asn)
c.1429T>A (p.Tyr477Asn)
c.1099T>A (p.Tyr367Asn)
c.1444T>A (p.Tyr482Asn)
c.1681T>A (p.Tyr561Asn)
c.1633T>A (p.Tyr545Asn)
c.1492T>A (p.Tyr498Asn)
c.1477T>A (p.Tyr493Asn)
c.1336T>A (p.Tyr446Asn)
c.1147T>A (p.Tyr383Asn)
c.1132T>A (p.Tyr378Asn)
c.637T>A (p.Tyr213Asn)
c.448T>A (p.Tyr150Asn)
 gnomAD v4
10g.86716524T>CCA377450603LDB3n.515-2203T>C
c.1240T>C (p.Tyr414His)
c.1288T>C (p.Tyr430His)
c.1429T>C (p.Tyr477His)
c.1099T>C (p.Tyr367His)
c.1444T>C (p.Tyr482His)
c.1681T>C (p.Tyr561His)
c.1633T>C (p.Tyr545His)
c.1492T>C (p.Tyr498His)
c.1477T>C (p.Tyr493His)
c.1336T>C (p.Tyr446His)
c.1147T>C (p.Tyr383His)
c.1132T>C (p.Tyr378His)
c.637T>C (p.Tyr213His)
c.448T>C (p.Tyr150His)
10g.86716524T>GCA377450606LDB3n.515-2203T>G
c.1240T>G (p.Tyr414Asp)
c.1288T>G (p.Tyr430Asp)
c.1429T>G (p.Tyr477Asp)
c.1099T>G (p.Tyr367Asp)
c.1444T>G (p.Tyr482Asp)
c.1681T>G (p.Tyr561Asp)
c.1633T>G (p.Tyr545Asp)
c.1492T>G (p.Tyr498Asp)
c.1477T>G (p.Tyr493Asp)
c.1336T>G (p.Tyr446Asp)
c.1147T>G (p.Tyr383Asp)
c.1132T>G (p.Tyr378Asp)
c.637T>G (p.Tyr213Asp)
c.448T>G (p.Tyr150Asp)
10g.86716525A=CA1925631916LDB3n.515-2202A=
c.1241A= (p.Tyr414=)
c.1289A= (p.Tyr430=)
c.1430A= (p.Tyr477=)
c.1100A= (p.Tyr367=)
c.1445A= (p.Tyr482=)
c.1682A= (p.Tyr561=)
c.1634A= (p.Tyr545=)
c.1493A= (p.Tyr498=)
c.1478A= (p.Tyr493=)
c.1337A= (p.Tyr446=)
c.1148A= (p.Tyr383=)
c.1133A= (p.Tyr378=)
c.638A= (p.Tyr213=)
c.449A= (p.Tyr150=)
10g.86716525A>CCA377450613LDB3n.515-2202A>C
c.1241A>C (p.Tyr414Ser)
c.1289A>C (p.Tyr430Ser)
c.1430A>C (p.Tyr477Ser)
c.1100A>C (p.Tyr367Ser)
c.1445A>C (p.Tyr482Ser)
c.1682A>C (p.Tyr561Ser)
c.1634A>C (p.Tyr545Ser)
c.1493A>C (p.Tyr498Ser)
c.1478A>C (p.Tyr493Ser)
c.1337A>C (p.Tyr446Ser)
c.1148A>C (p.Tyr383Ser)
c.1133A>C (p.Tyr378Ser)
c.638A>C (p.Tyr213Ser)
c.449A>C (p.Tyr150Ser)
10g.86716525A>GCA5585159LDB3n.515-2202A>G
c.1241A>G (p.Tyr414Cys)
c.1289A>G (p.Tyr430Cys)
c.1430A>G (p.Tyr477Cys)
c.1100A>G (p.Tyr367Cys)
c.1445A>G (p.Tyr482Cys)
c.1682A>G (p.Tyr561Cys)
c.1634A>G (p.Tyr545Cys)
c.1493A>G (p.Tyr498Cys)
c.1478A>G (p.Tyr493Cys)
c.1337A>G (p.Tyr446Cys)
c.1148A>G (p.Tyr383Cys)
c.1133A>G (p.Tyr378Cys)
c.638A>G (p.Tyr213Cys)
c.449A>G (p.Tyr150Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716525A>TCA377450618LDB3n.515-2202A>T
c.1241A>T (p.Tyr414Phe)
c.1289A>T (p.Tyr430Phe)
c.1430A>T (p.Tyr477Phe)
c.1100A>T (p.Tyr367Phe)
c.1445A>T (p.Tyr482Phe)
c.1682A>T (p.Tyr561Phe)
c.1634A>T (p.Tyr545Phe)
c.1493A>T (p.Tyr498Phe)
c.1478A>T (p.Tyr493Phe)
c.1337A>T (p.Tyr446Phe)
c.1148A>T (p.Tyr383Phe)
c.1133A>T (p.Tyr378Phe)
c.638A>T (p.Tyr213Phe)
c.449A>T (p.Tyr150Phe)
10g.86716526C>ACA377450624LDB3n.515-2201C>A
c.1242C>A (p.Tyr414Ter)
c.1290C>A (p.Tyr430Ter)
c.1431C>A (p.Tyr477Ter)
c.1101C>A (p.Tyr367Ter)
c.1446C>A (p.Tyr482Ter)
c.1683C>A (p.Tyr561Ter)
c.1635C>A (p.Tyr545Ter)
c.1494C>A (p.Tyr498Ter)
c.1479C>A (p.Tyr493Ter)
c.1338C>A (p.Tyr446Ter)
c.1149C>A (p.Tyr383Ter)
c.1134C>A (p.Tyr378Ter)
c.639C>A (p.Tyr213Ter)
c.450C>A (p.Tyr150Ter)
10g.86716526C>GCA377450621LDB3n.515-2201C>G
c.1242C>G (p.Tyr414Ter)
c.1290C>G (p.Tyr430Ter)
c.1431C>G (p.Tyr477Ter)
c.1101C>G (p.Tyr367Ter)
c.1446C>G (p.Tyr482Ter)
c.1683C>G (p.Tyr561Ter)
c.1635C>G (p.Tyr545Ter)
c.1494C>G (p.Tyr498Ter)
c.1479C>G (p.Tyr493Ter)
c.1338C>G (p.Tyr446Ter)
c.1149C>G (p.Tyr383Ter)
c.1134C>G (p.Tyr378Ter)
c.639C>G (p.Tyr213Ter)
c.450C>G (p.Tyr150Ter)
10g.86716526C>TCA470375291LDB3n.515-2201C>T
c.1242C>T (p.Tyr414=)
c.1290C>T (p.Tyr430=)
c.1431C>T (p.Tyr477=)
c.1101C>T (p.Tyr367=)
c.1446C>T (p.Tyr482=)
c.1683C>T (p.Tyr561=)
c.1635C>T (p.Tyr545=)
c.1494C>T (p.Tyr498=)
c.1479C>T (p.Tyr493=)
c.1338C>T (p.Tyr446=)
c.1149C>T (p.Tyr383=)
c.1134C>T (p.Tyr378=)
c.639C>T (p.Tyr213=)
c.450C>T (p.Tyr150=)
10g.86716527A=CA1925631917LDB3n.515-2200A=
c.1243A= (p.Ser415=)
c.1291A= (p.Ser431=)
c.1432A= (p.Ser478=)
c.1102A= (p.Ser368=)
c.1447A= (p.Ser483=)
c.1684A= (p.Ser562=)
c.1636A= (p.Ser546=)
c.1495A= (p.Ser499=)
c.1480A= (p.Ser494=)
c.1339A= (p.Ser447=)
c.1150A= (p.Ser384=)
c.1135A= (p.Ser379=)
c.640A= (p.Ser214=)
c.451A= (p.Ser151=)
10g.86716527A>CCA377450627LDB3n.515-2200A>C
c.1243A>C (p.Ser415Arg)
c.1291A>C (p.Ser431Arg)
c.1432A>C (p.Ser478Arg)
c.1102A>C (p.Ser368Arg)
c.1447A>C (p.Ser483Arg)
c.1684A>C (p.Ser562Arg)
c.1636A>C (p.Ser546Arg)
c.1495A>C (p.Ser499Arg)
c.1480A>C (p.Ser494Arg)
c.1339A>C (p.Ser447Arg)
c.1150A>C (p.Ser384Arg)
c.1135A>C (p.Ser379Arg)
c.640A>C (p.Ser214Arg)
c.451A>C (p.Ser151Arg)
10g.86716527A>GCA377450629LDB3n.515-2200A>G
c.1243A>G (p.Ser415Gly)
c.1291A>G (p.Ser431Gly)
c.1432A>G (p.Ser478Gly)
c.1102A>G (p.Ser368Gly)
c.1447A>G (p.Ser483Gly)
c.1684A>G (p.Ser562Gly)
c.1636A>G (p.Ser546Gly)
c.1495A>G (p.Ser499Gly)
c.1480A>G (p.Ser494Gly)
c.1339A>G (p.Ser447Gly)
c.1150A>G (p.Ser384Gly)
c.1135A>G (p.Ser379Gly)
c.640A>G (p.Ser214Gly)
c.451A>G (p.Ser151Gly)
10g.86716527A>TCA377450632LDB3n.515-2200A>T
c.1243A>T (p.Ser415Cys)
c.1291A>T (p.Ser431Cys)
c.1432A>T (p.Ser478Cys)
c.1102A>T (p.Ser368Cys)
c.1447A>T (p.Ser483Cys)
c.1684A>T (p.Ser562Cys)
c.1636A>T (p.Ser546Cys)
c.1495A>T (p.Ser499Cys)
c.1480A>T (p.Ser494Cys)
c.1339A>T (p.Ser447Cys)
c.1150A>T (p.Ser384Cys)
c.1135A>T (p.Ser379Cys)
c.640A>T (p.Ser214Cys)
c.451A>T (p.Ser151Cys)
 dbSNP gnomAD v3 gnomAD v4
10g.86716528G>ACA377450633LDB3n.515-2199G>A
c.1244G>A (p.Ser415Asn)
c.1292G>A (p.Ser431Asn)
c.1433G>A (p.Ser478Asn)
c.1103G>A (p.Ser368Asn)
c.1448G>A (p.Ser483Asn)
c.1685G>A (p.Ser562Asn)
c.1637G>A (p.Ser546Asn)
c.1496G>A (p.Ser499Asn)
c.1481G>A (p.Ser494Asn)
c.1340G>A (p.Ser447Asn)
c.1151G>A (p.Ser384Asn)
c.1136G>A (p.Ser379Asn)
c.641G>A (p.Ser214Asn)
c.452G>A (p.Ser151Asn)
10g.86716528G>CCA377450635LDB3n.515-2199G>C
c.1244G>C (p.Ser415Thr)
c.1292G>C (p.Ser431Thr)
c.1433G>C (p.Ser478Thr)
c.1103G>C (p.Ser368Thr)
c.1448G>C (p.Ser483Thr)
c.1685G>C (p.Ser562Thr)
c.1637G>C (p.Ser546Thr)
c.1496G>C (p.Ser499Thr)
c.1481G>C (p.Ser494Thr)
c.1340G>C (p.Ser447Thr)
c.1151G>C (p.Ser384Thr)
c.1136G>C (p.Ser379Thr)
c.641G>C (p.Ser214Thr)
c.452G>C (p.Ser151Thr)
10g.86716528G>TCA377450644LDB3n.515-2199G>T
c.1244G>T (p.Ser415Ile)
c.1292G>T (p.Ser431Ile)
c.1433G>T (p.Ser478Ile)
c.1103G>T (p.Ser368Ile)
c.1448G>T (p.Ser483Ile)
c.1685G>T (p.Ser562Ile)
c.1637G>T (p.Ser546Ile)
c.1496G>T (p.Ser499Ile)
c.1481G>T (p.Ser494Ile)
c.1340G>T (p.Ser447Ile)
c.1151G>T (p.Ser384Ile)
c.1136G>T (p.Ser379Ile)
c.641G>T (p.Ser214Ile)
c.452G>T (p.Ser151Ile)
10g.86716529C>ACA377450648LDB3n.515-2198C>A
c.1245C>A (p.Ser415Arg)
c.1293C>A (p.Ser431Arg)
c.1434C>A (p.Ser478Arg)
c.1104C>A (p.Ser368Arg)
c.1449C>A (p.Ser483Arg)
c.1686C>A (p.Ser562Arg)
c.1638C>A (p.Ser546Arg)
c.1497C>A (p.Ser499Arg)
c.1482C>A (p.Ser494Arg)
c.1341C>A (p.Ser447Arg)
c.1152C>A (p.Ser384Arg)
c.1137C>A (p.Ser379Arg)
c.642C>A (p.Ser214Arg)
c.453C>A (p.Ser151Arg)
10g.86716529C=CA1925631918LDB3n.515-2198C=
c.1245C= (p.Ser415=)
c.1293C= (p.Ser431=)
c.1434C= (p.Ser478=)
c.1104C= (p.Ser368=)
c.1449C= (p.Ser483=)
c.1686C= (p.Ser562=)
c.1638C= (p.Ser546=)
c.1497C= (p.Ser499=)
c.1482C= (p.Ser494=)
c.1341C= (p.Ser447=)
c.1152C= (p.Ser384=)
c.1137C= (p.Ser379=)
c.642C= (p.Ser214=)
c.453C= (p.Ser151=)
10g.86716529C>GCA377450647LDB3n.515-2198C>G
c.1245C>G (p.Ser415Arg)
c.1293C>G (p.Ser431Arg)
c.1434C>G (p.Ser478Arg)
c.1104C>G (p.Ser368Arg)
c.1449C>G (p.Ser483Arg)
c.1686C>G (p.Ser562Arg)
c.1638C>G (p.Ser546Arg)
c.1497C>G (p.Ser499Arg)
c.1482C>G (p.Ser494Arg)
c.1341C>G (p.Ser447Arg)
c.1152C>G (p.Ser384Arg)
c.1137C>G (p.Ser379Arg)
c.642C>G (p.Ser214Arg)
c.453C>G (p.Ser151Arg)
10g.86716529C>TCA470375302LDB3n.515-2198C>T
c.1245C>T (p.Ser415=)
c.1293C>T (p.Ser431=)
c.1434C>T (p.Ser478=)
c.1104C>T (p.Ser368=)
c.1449C>T (p.Ser483=)
c.1686C>T (p.Ser562=)
c.1638C>T (p.Ser546=)
c.1497C>T (p.Ser499=)
c.1482C>T (p.Ser494=)
c.1341C>T (p.Ser447=)
c.1152C>T (p.Ser384=)
c.1137C>T (p.Ser379=)
c.642C>T (p.Ser214=)
c.453C>T (p.Ser151=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86716530G>ACA5585160LDB3n.515-2197G>A
c.1246G>A (p.Gly416Arg)
c.1294G>A (p.Gly432Arg)
c.1435G>A (p.Gly479Arg)
c.1105G>A (p.Gly369Arg)
c.1450G>A (p.Gly484Arg)
c.1687G>A (p.Gly563Arg)
c.1639G>A (p.Gly547Arg)
c.1498G>A (p.Gly500Arg)
c.1483G>A (p.Gly495Arg)
c.1342G>A (p.Gly448Arg)
c.1153G>A (p.Gly385Arg)
c.1138G>A (p.Gly380Arg)
c.643G>A (p.Gly215Arg)
c.454G>A (p.Gly152Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716530G>CCA377450654LDB3n.515-2197G>C
c.1246G>C (p.Gly416Arg)
c.1294G>C (p.Gly432Arg)
c.1435G>C (p.Gly479Arg)
c.1105G>C (p.Gly369Arg)
c.1450G>C (p.Gly484Arg)
c.1687G>C (p.Gly563Arg)
c.1639G>C (p.Gly547Arg)
c.1498G>C (p.Gly500Arg)
c.1483G>C (p.Gly495Arg)
c.1342G>C (p.Gly448Arg)
c.1153G>C (p.Gly385Arg)
c.1138G>C (p.Gly380Arg)
c.643G>C (p.Gly215Arg)
c.454G>C (p.Gly152Arg)
10g.86716530G=CA1925631919LDB3n.515-2197G=
c.1246G= (p.Gly416=)
c.1294G= (p.Gly432=)
c.1435G= (p.Gly479=)
c.1105G= (p.Gly369=)
c.1450G= (p.Gly484=)
c.1687G= (p.Gly563=)
c.1639G= (p.Gly547=)
c.1498G= (p.Gly500=)
c.1483G= (p.Gly495=)
c.1342G= (p.Gly448=)
c.1153G= (p.Gly385=)
c.1138G= (p.Gly380=)
c.643G= (p.Gly215=)
c.454G= (p.Gly152=)
10g.86716530G>TCA377450656LDB3n.515-2197G>T
c.1246G>T (p.Gly416Trp)
c.1294G>T (p.Gly432Trp)
c.1435G>T (p.Gly479Trp)
c.1105G>T (p.Gly369Trp)
c.1450G>T (p.Gly484Trp)
c.1687G>T (p.Gly563Trp)
c.1639G>T (p.Gly547Trp)
c.1498G>T (p.Gly500Trp)
c.1483G>T (p.Gly495Trp)
c.1342G>T (p.Gly448Trp)
c.1153G>T (p.Gly385Trp)
c.1138G>T (p.Gly380Trp)
c.643G>T (p.Gly215Trp)
c.454G>T (p.Gly152Trp)
 gnomAD v4
10g.86716534dupCA2573145665LDB3n.515-2193dup
c.1250dup (p.Ala419CysfsTer13)
c.1298dup (p.Ala435CysfsTer13)
c.1439dup (p.Ala482CysfsTer13)
c.1109dup (p.Ala372CysfsTer13)
c.1454dup (p.Ala487CysfsTer13)
c.1691dup (p.Ala566CysfsTer13)
c.1643dup (p.Ala550CysfsTer13)
c.1502dup (p.Ala503CysfsTer13)
c.1487dup (p.Ala498CysfsTer13)
c.1346dup (p.Ala451CysfsTer13)
c.1157dup (p.Ala388CysfsTer13)
c.1142dup (p.Ala383CysfsTer13)
c.647dup (p.Ala218CysfsTer13)
c.458dup (p.Ala155CysfsTer13)
 ClinVar dbSNP
10g.86716534delCA2574457112LDB3n.515-2193del
c.1250del (p.Gly417AlafsTer12)
c.1298del (p.Gly433AlafsTer12)
c.1439del (p.Gly480AlafsTer12)
c.1109del (p.Gly370AlafsTer12)
c.1454del (p.Gly485AlafsTer12)
c.1691del (p.Gly564AlafsTer12)
c.1643del (p.Gly548AlafsTer12)
c.1502del (p.Gly501AlafsTer12)
c.1487del (p.Gly496AlafsTer12)
c.1346del (p.Gly449AlafsTer12)
c.1157del (p.Gly386AlafsTer12)
c.1142del (p.Gly381AlafsTer12)
c.647del (p.Gly216AlafsTer12)
c.458del (p.Gly153AlafsTer12)
10g.86716531G>ACA377450662LDB3n.515-2196G>A
c.1247G>A (p.Gly416Glu)
c.1295G>A (p.Gly432Glu)
c.1436G>A (p.Gly479Glu)
c.1106G>A (p.Gly369Glu)
c.1451G>A (p.Gly484Glu)
c.1688G>A (p.Gly563Glu)
c.1640G>A (p.Gly547Glu)
c.1499G>A (p.Gly500Glu)
c.1484G>A (p.Gly495Glu)
c.1343G>A (p.Gly448Glu)
c.1154G>A (p.Gly385Glu)
c.1139G>A (p.Gly380Glu)
c.644G>A (p.Gly215Glu)
c.455G>A (p.Gly152Glu)
 COSMIC COSMIC COSMIC
10g.86716531G>CCA377450670LDB3n.515-2196G>C
c.1247G>C (p.Gly416Ala)
c.1295G>C (p.Gly432Ala)
c.1436G>C (p.Gly479Ala)
c.1106G>C (p.Gly369Ala)
c.1451G>C (p.Gly484Ala)
c.1688G>C (p.Gly563Ala)
c.1640G>C (p.Gly547Ala)
c.1499G>C (p.Gly500Ala)
c.1484G>C (p.Gly495Ala)
c.1343G>C (p.Gly448Ala)
c.1154G>C (p.Gly385Ala)
c.1139G>C (p.Gly380Ala)
c.644G>C (p.Gly215Ala)
c.455G>C (p.Gly152Ala)
10g.86716531G>TCA377450673LDB3n.515-2196G>T
c.1247G>T (p.Gly416Val)
c.1295G>T (p.Gly432Val)
c.1436G>T (p.Gly479Val)
c.1106G>T (p.Gly369Val)
c.1451G>T (p.Gly484Val)
c.1688G>T (p.Gly563Val)
c.1640G>T (p.Gly547Val)
c.1499G>T (p.Gly500Val)
c.1484G>T (p.Gly495Val)
c.1343G>T (p.Gly448Val)
c.1154G>T (p.Gly385Val)
c.1139G>T (p.Gly380Val)
c.644G>T (p.Gly215Val)
c.455G>T (p.Gly152Val)
 gnomAD v4
10g.86716532G>ACA470375313LDB3n.515-2195G>A
c.1248G>A (p.Gly416=)
c.1296G>A (p.Gly432=)
c.1437G>A (p.Gly479=)
c.1107G>A (p.Gly369=)
c.1452G>A (p.Gly484=)
c.1689G>A (p.Gly563=)
c.1641G>A (p.Gly547=)
c.1500G>A (p.Gly500=)
c.1485G>A (p.Gly495=)
c.1344G>A (p.Gly448=)
c.1155G>A (p.Gly385=)
c.1140G>A (p.Gly380=)
c.645G>A (p.Gly215=)
c.456G>A (p.Gly152=)
10g.86716532G>CCA16605698LDB3n.515-2195G>C
c.1248G>C (p.Gly416=)
c.1296G>C (p.Gly432=)
c.1437G>C (p.Gly479=)
c.1107G>C (p.Gly369=)
c.1452G>C (p.Gly484=)
c.1689G>C (p.Gly563=)
c.1641G>C (p.Gly547=)
c.1500G>C (p.Gly500=)
c.1485G>C (p.Gly495=)
c.1344G>C (p.Gly448=)
c.1155G>C (p.Gly385=)
c.1140G>C (p.Gly380=)
c.645G>C (p.Gly215=)
c.456G>C (p.Gly152=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.86716532G=CA1925631920LDB3n.515-2195G=
c.1248G= (p.Gly416=)
c.1296G= (p.Gly432=)
c.1437G= (p.Gly479=)
c.1107G= (p.Gly369=)
c.1452G= (p.Gly484=)
c.1689G= (p.Gly563=)
c.1641G= (p.Gly547=)
c.1500G= (p.Gly500=)
c.1485G= (p.Gly495=)
c.1344G= (p.Gly448=)
c.1155G= (p.Gly385=)
c.1140G= (p.Gly380=)
c.645G= (p.Gly215=)
c.456G= (p.Gly152=)
10g.86716532G>TCA470375317LDB3n.515-2195G>T
c.1248G>T (p.Gly416=)
c.1296G>T (p.Gly432=)
c.1437G>T (p.Gly479=)
c.1107G>T (p.Gly369=)
c.1452G>T (p.Gly484=)
c.1689G>T (p.Gly563=)
c.1641G>T (p.Gly547=)
c.1500G>T (p.Gly500=)
c.1485G>T (p.Gly495=)
c.1344G>T (p.Gly448=)
c.1155G>T (p.Gly385=)
c.1140G>T (p.Gly380=)
c.645G>T (p.Gly215=)
c.456G>T (p.Gly152=)
 gnomAD v4
10g.86716533G>ACA5585161LDB3n.515-2194G>A
c.1249G>A (p.Gly417Ser)
c.1297G>A (p.Gly433Ser)
c.1438G>A (p.Gly480Ser)
c.1108G>A (p.Gly370Ser)
c.1453G>A (p.Gly485Ser)
c.1690G>A (p.Gly564Ser)
c.1642G>A (p.Gly548Ser)
c.1501G>A (p.Gly501Ser)
c.1486G>A (p.Gly496Ser)
c.1345G>A (p.Gly449Ser)
c.1156G>A (p.Gly386Ser)
c.1141G>A (p.Gly381Ser)
c.646G>A (p.Gly216Ser)
c.457G>A (p.Gly153Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86716533G>CCA377450683LDB3n.515-2194G>C
c.1249G>C (p.Gly417Arg)
c.1297G>C (p.Gly433Arg)
c.1438G>C (p.Gly480Arg)
c.1108G>C (p.Gly370Arg)
c.1453G>C (p.Gly485Arg)
c.1690G>C (p.Gly564Arg)
c.1642G>C (p.Gly548Arg)
c.1501G>C (p.Gly501Arg)
c.1486G>C (p.Gly496Arg)
c.1345G>C (p.Gly449Arg)
c.1156G>C (p.Gly386Arg)
c.1141G>C (p.Gly381Arg)
c.646G>C (p.Gly216Arg)
c.457G>C (p.Gly153Arg)
10g.86716533G=CA1925631921LDB3n.515-2194G=
c.1249G= (p.Gly417=)
c.1297G= (p.Gly433=)
c.1438G= (p.Gly480=)
c.1108G= (p.Gly370=)
c.1453G= (p.Gly485=)
c.1690G= (p.Gly564=)
c.1642G= (p.Gly548=)
c.1501G= (p.Gly501=)
c.1486G= (p.Gly496=)
c.1345G= (p.Gly449=)
c.1156G= (p.Gly386=)
c.1141G= (p.Gly381=)
c.646G= (p.Gly216=)
c.457G= (p.Gly153=)
10g.86716533G>TCA377450680LDB3n.515-2194G>T
c.1249G>T (p.Gly417Cys)
c.1297G>T (p.Gly433Cys)
c.1438G>T (p.Gly480Cys)
c.1108G>T (p.Gly370Cys)
c.1453G>T (p.Gly485Cys)
c.1690G>T (p.Gly564Cys)
c.1642G>T (p.Gly548Cys)
c.1501G>T (p.Gly501Cys)
c.1486G>T (p.Gly496Cys)
c.1345G>T (p.Gly449Cys)
c.1156G>T (p.Gly386Cys)
c.1141G>T (p.Gly381Cys)
c.646G>T (p.Gly216Cys)
c.457G>T (p.Gly153Cys)
 gnomAD v4
10g.86716534G>ACA5585162LDB3n.515-2193G>A
c.1250G>A (p.Gly417Asp)
c.1298G>A (p.Gly433Asp)
c.1439G>A (p.Gly480Asp)
c.1109G>A (p.Gly370Asp)
c.1454G>A (p.Gly485Asp)
c.1691G>A (p.Gly564Asp)
c.1643G>A (p.Gly548Asp)
c.1502G>A (p.Gly501Asp)
c.1487G>A (p.Gly496Asp)
c.1346G>A (p.Gly449Asp)
c.1157G>A (p.Gly386Asp)
c.1142G>A (p.Gly381Asp)
c.647G>A (p.Gly216Asp)
c.458G>A (p.Gly153Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86716534G>CCA377450690LDB3n.515-2193G>C
c.1250G>C (p.Gly417Ala)
c.1298G>C (p.Gly433Ala)
c.1439G>C (p.Gly480Ala)
c.1109G>C (p.Gly370Ala)
c.1454G>C (p.Gly485Ala)
c.1691G>C (p.Gly564Ala)
c.1643G>C (p.Gly548Ala)
c.1502G>C (p.Gly501Ala)
c.1487G>C (p.Gly496Ala)
c.1346G>C (p.Gly449Ala)
c.1157G>C (p.Gly386Ala)
c.1142G>C (p.Gly381Ala)
c.647G>C (p.Gly216Ala)
c.458G>C (p.Gly153Ala)
10g.86716534G=CA1925631922LDB3n.515-2193G=
c.1250G= (p.Gly417=)
c.1298G= (p.Gly433=)
c.1439G= (p.Gly480=)
c.1109G= (p.Gly370=)
c.1454G= (p.Gly485=)
c.1691G= (p.Gly564=)
c.1643G= (p.Gly548=)
c.1502G= (p.Gly501=)
c.1487G= (p.Gly496=)
c.1346G= (p.Gly449=)
c.1157G= (p.Gly386=)
c.1142G= (p.Gly381=)
c.647G= (p.Gly216=)
c.458G= (p.Gly153=)
10g.86716534G>TCA377450694LDB3n.515-2193G>T
c.1250G>T (p.Gly417Val)
c.1298G>T (p.Gly433Val)
c.1439G>T (p.Gly480Val)
c.1109G>T (p.Gly370Val)
c.1454G>T (p.Gly485Val)
c.1691G>T (p.Gly564Val)
c.1643G>T (p.Gly548Val)
c.1502G>T (p.Gly501Val)
c.1487G>T (p.Gly496Val)
c.1346G>T (p.Gly449Val)
c.1157G>T (p.Gly386Val)
c.1142G>T (p.Gly381Val)
c.647G>T (p.Gly216Val)
c.458G>T (p.Gly153Val)

Number of alleles fetched