Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33320051_33320146dupCA2678255396DAXXc.1371_1466dup (p.Asp488_Asp489insGluGluGluGluGluGluGluGluGluGluGluGluGluAlaThrAspSerGluGluGluGluAspLeuGluGlnMetGlnGluGlyGlnGluAsp)
c.1335_1430dup (p.Asp476_Asp477insGluGluGluGluGluGluGluGluGluGluGluGluGluAlaThrAspSerGluGluGluGluAspLeuGluGlnMetGlnGluGlyGlnGluAsp)
c.1110_1205dup (p.Asp401_Asp402insGluGluGluGluGluGluGluGluGluGluGluGluGluAlaThrAspSerGluGluGluGluAspLeuGluGlnMetGlnGluGlyGlnGluAsp)
n.365_460dup
n.447_542dup
n.320_415dup
c.231_326dup (p.Asp108_Asp109insGluGluGluGluGluGluGluGluGluGluGluGluGluAlaThrAspSerGluGluGluGluAspLeuGluGlnMetGlnGluGlyGlnGluAsp)
 gnomAD v4
6g.33320093_33320116delCA2578584331DAXXc.1409_1432del (p.Ala470_Glu477del)
c.1373_1396del (p.Ala458_Glu465del)
c.1148_1171del (p.Ala383_Glu390del)
n.403_426del
n.485_508del
n.358_381del
c.269_292del (p.Ala90_Glu97del)
 gnomAD v4
6g.33320093_33320134dupCA2678255448DAXXc.1380_1421dup (p.Glu474_Glu475insGluGluGluGluGluGluGluGluGluAlaThrAspSerGlu)
c.1344_1385dup (p.Glu462_Glu463insGluGluGluGluGluGluGluGluGluAlaThrAspSerGlu)
c.1119_1160dup (p.Glu387_Glu388insGluGluGluGluGluGluGluGluGluAlaThrAspSerGlu)
n.374_415dup
n.456_497dup
n.329_370dup
c.240_281dup (p.Glu94_Glu95insGluGluGluGluGluGluGluGluGluAlaThrAspSerGlu)
 gnomAD v4
6g.33320100G>ACA363654418DAXXc.1412C>T (p.Thr471Ile)
c.1376C>T (p.Thr459Ile)
c.1151C>T (p.Thr384Ile)
n.406C>T
n.488C>T
n.361C>T
c.272C>T (p.Thr91Ile)
 dbSNP gnomAD v4
6g.33320100G>CCA363654422DAXXc.1412C>G (p.Thr471Arg)
c.1376C>G (p.Thr459Arg)
c.1151C>G (p.Thr384Arg)
n.406C>G
n.488C>G
n.361C>G
c.272C>G (p.Thr91Arg)
 dbSNP
6g.33320100G>TCA363654426DAXXc.1412C>A (p.Thr471Lys)
c.1376C>A (p.Thr459Lys)
c.1151C>A (p.Thr384Lys)
n.406C>A
n.488C>A
n.361C>A
c.272C>A (p.Thr91Lys)
6g.33320101T>ACA363654434DAXXc.1411A>T (p.Thr471Ser)
c.1375A>T (p.Thr459Ser)
c.1150A>T (p.Thr384Ser)
n.405A>T
n.487A>T
n.360A>T
c.271A>T (p.Thr91Ser)
6g.33320101T>CCA363654431DAXXc.1411A>G (p.Thr471Ala)
c.1375A>G (p.Thr459Ala)
c.1150A>G (p.Thr384Ala)
n.405A>G
n.487A>G
n.360A>G
c.271A>G (p.Thr91Ala)
6g.33320101T>GCA363654430DAXXc.1411A>C (p.Thr471Pro)
c.1375A>C (p.Thr459Pro)
c.1150A>C (p.Thr384Pro)
n.405A>C
n.487A>C
n.360A>C
c.271A>C (p.Thr91Pro)
6g.33320102G>ACA450110058DAXXc.1410C>T (p.Ala470=)
c.1374C>T (p.Ala458=)
c.1149C>T (p.Ala383=)
n.404C>T
n.486C>T
n.359C>T
c.270C>T (p.Ala90=)
 dbSNP gnomAD v2 gnomAD v4
6g.33320102G>CCA450110057DAXXc.1410C>G (p.Ala470=)
c.1374C>G (p.Ala458=)
c.1149C>G (p.Ala383=)
n.404C>G
n.486C>G
n.359C>G
c.270C>G (p.Ala90=)
6g.33320102G=CA1619962047DAXXc.1410C= (p.Ala470=)
c.1374C= (p.Ala458=)
c.1149C= (p.Ala383=)
n.404C=
n.486C=
n.359C=
c.270C= (p.Ala90=)
6g.33320102G>TCA450110056DAXXc.1410C>A (p.Ala470=)
c.1374C>A (p.Ala458=)
c.1149C>A (p.Ala383=)
n.404C>A
n.486C>A
n.359C>A
c.270C>A (p.Ala90=)
6g.33320103G>ACA363654445DAXXc.1409C>T (p.Ala470Val)
c.1373C>T (p.Ala458Val)
c.1148C>T (p.Ala383Val)
n.403C>T
n.485C>T
n.358C>T
c.269C>T (p.Ala90Val)
6g.33320103G>CCA363654459DAXXc.1409C>G (p.Ala470Gly)
c.1373C>G (p.Ala458Gly)
c.1148C>G (p.Ala383Gly)
n.403C>G
n.485C>G
n.358C>G
c.269C>G (p.Ala90Gly)
 dbSNP gnomAD v4
6g.33320103G=CA1619962050DAXXc.1409C= (p.Ala470=)
c.1373C= (p.Ala458=)
c.1148C= (p.Ala383=)
n.403C=
n.485C=
n.358C=
c.269C= (p.Ala90=)
6g.33320103G>TCA363654450DAXXc.1409C>A (p.Ala470Asp)
c.1373C>A (p.Ala458Asp)
c.1148C>A (p.Ala383Asp)
n.403C>A
n.485C>A
n.358C>A
c.269C>A (p.Ala90Asp)
 gnomAD v4
6g.33320103_33320106delinsGCCTCA1619962049DAXXc.1406_1409delinsAGGC (p.Glu469=)
c.1370_1373delinsAGGC (p.Glu457=)
c.1145_1148delinsAGGC (p.Glu382=)
n.400_403delinsAGGC
n.482_485delinsAGGC
n.355_358delinsAGGC
c.266_269delinsAGGC (p.Glu89=)
6g.33320103_33320127delinsGCCTCCTCCTCTTCTTCTTCCTCCTCA1619962048DAXXc.1385_1409delinsAGGAGGAAGAAGAAGAGGAGGAGGC (p.Glu462=)
c.1349_1373delinsAGGAGGAAGAAGAAGAGGAGGAGGC (p.Glu450=)
c.1124_1148delinsAGGAGGAAGAAGAAGAGGAGGAGGC (p.Glu375=)
n.379_403delinsAGGAGGAAGAAGAAGAGGAGGAGGC
n.461_485delinsAGGAGGAAGAAGAAGAGGAGGAGGC
n.334_358delinsAGGAGGAAGAAGAAGAGGAGGAGGC
c.245_269delinsAGGAGGAAGAAGAAGAGGAGGAGGC (p.Glu82=)
6g.33320104C>ACA363654468DAXXc.1408G>T (p.Ala470Ser)
c.1372G>T (p.Ala458Ser)
c.1147G>T (p.Ala383Ser)
n.402G>T
n.484G>T
n.357G>T
c.268G>T (p.Ala90Ser)
6g.33320104C=CA1619962052DAXXc.1408G= (p.Ala470=)
c.1372G= (p.Ala458=)
c.1147G= (p.Ala383=)
n.402G=
n.484G=
n.357G=
c.268G= (p.Ala90=)
6g.33320104C>GCA363654474DAXXc.1408G>C (p.Ala470Pro)
c.1372G>C (p.Ala458Pro)
c.1147G>C (p.Ala383Pro)
n.402G>C
n.484G>C
n.357G>C
c.268G>C (p.Ala90Pro)
6g.33320104C>TCA363654476DAXXc.1408G>A (p.Ala470Thr)
c.1372G>A (p.Ala458Thr)
c.1147G>A (p.Ala383Thr)
n.402G>A
n.484G>A
n.357G>A
c.268G>A (p.Ala90Thr)
 dbSNP
6g.33320111_33320113delCA3756551DAXXc.1406_1408del (p.Glu469del)
c.1370_1372del (p.Glu457del)
c.1145_1147del (p.Glu382del)
n.400_402del
n.482_484del
n.355_357del
c.266_268del (p.Glu89del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320114_33320131delCA2678255464DAXXc.1391_1408del (p.Glu464_Glu469del)
c.1355_1372del (p.Glu452_Glu457del)
c.1130_1147del (p.Glu377_Glu382del)
n.385_402del
n.467_484del
n.340_357del
c.251_268del (p.Glu84_Glu89del)
 gnomAD v4
6g.33320117_33320140delCA1619962051DAXXc.1385_1408del (p.Glu462_Glu469del)
c.1349_1372del (p.Glu450_Glu457del)
c.1124_1147del (p.Glu375_Glu382del)
n.379_402del
n.461_484del
n.334_357del
c.245_268del (p.Glu82_Glu89del)
 dbSNP
6g.33320105C>ACA363654478DAXXc.1407G>T (p.Glu469Asp)
c.1371G>T (p.Glu457Asp)
c.1146G>T (p.Glu382Asp)
n.401G>T
n.483G>T
n.356G>T
c.267G>T (p.Glu89Asp)
6g.33320105C>GCA363654484DAXXc.1407G>C (p.Glu469Asp)
c.1371G>C (p.Glu457Asp)
c.1146G>C (p.Glu382Asp)
n.401G>C
n.483G>C
n.356G>C
c.267G>C (p.Glu89Asp)
6g.33320105C>TCA450110059DAXXc.1407G>A (p.Glu469=)
c.1371G>A (p.Glu457=)
c.1146G>A (p.Glu382=)
n.401G>A
n.483G>A
n.356G>A
c.267G>A (p.Glu89=)
6g.33320106T>ACA363654489DAXXc.1406A>T (p.Glu469Val)
c.1370A>T (p.Glu457Val)
c.1145A>T (p.Glu382Val)
n.400A>T
n.482A>T
n.355A>T
c.266A>T (p.Glu89Val)
 COSMIC
6g.33320106T>CCA363654505DAXXc.1406A>G (p.Glu469Gly)
c.1370A>G (p.Glu457Gly)
c.1145A>G (p.Glu382Gly)
n.400A>G
n.482A>G
n.355A>G
c.266A>G (p.Glu89Gly)
6g.33320106T>GCA363654515DAXXc.1406A>C (p.Glu469Ala)
c.1370A>C (p.Glu457Ala)
c.1145A>C (p.Glu382Ala)
n.400A>C
n.482A>C
n.355A>C
c.266A>C (p.Glu89Ala)
 dbSNP gnomAD v3 gnomAD v4
6g.33320106T=CA1619962053DAXXc.1406A= (p.Glu469=)
c.1370A= (p.Glu457=)
c.1145A= (p.Glu382=)
n.400A=
n.482A=
n.355A=
c.266A= (p.Glu89=)
6g.33320108_33320116delCA2711470782DAXXc.1398_1406del (p.Glu467_Glu469del)
c.1362_1370del (p.Glu455_Glu457del)
c.1137_1145del (p.Glu380_Glu382del)
n.392_400del
n.474_482del
n.347_355del
c.258_266del (p.Glu87_Glu89del)
 dbSNP
6g.33320114_33320128dupCA450110060DAXXc.1392_1406dup (p.Glu469_Ala470insGluGluGluGluGlu)
c.1356_1370dup (p.Glu457_Ala458insGluGluGluGluGlu)
c.1131_1145dup (p.Glu382_Ala383insGluGluGluGluGlu)
n.386_400dup
n.468_482dup
n.341_355dup
c.252_266dup (p.Glu89_Ala90insGluGluGluGluGlu)
6g.33320107C>ACA363654525DAXXc.1405G>T (p.Glu469Ter)
c.1369G>T (p.Glu457Ter)
c.1144G>T (p.Glu382Ter)
n.399G>T
n.481G>T
n.354G>T
c.265G>T (p.Glu89Ter)
6g.33320107C>GCA363654517DAXXc.1405G>C (p.Glu469Gln)
c.1369G>C (p.Glu457Gln)
c.1144G>C (p.Glu382Gln)
n.399G>C
n.481G>C
n.354G>C
c.265G>C (p.Glu89Gln)
6g.33320107C>TCA363654521DAXXc.1405G>A (p.Glu469Lys)
c.1369G>A (p.Glu457Lys)
c.1144G>A (p.Glu382Lys)
n.399G>A
n.481G>A
n.354G>A
c.265G>A (p.Glu89Lys)
6g.33320108C>ACA363654526DAXXc.1404G>T (p.Glu468Asp)
c.1368G>T (p.Glu456Asp)
c.1143G>T (p.Glu381Asp)
n.398G>T
n.480G>T
n.353G>T
c.264G>T (p.Glu88Asp)
6g.33320108C=CA1619962054DAXXc.1404G= (p.Glu468=)
c.1368G= (p.Glu456=)
c.1143G= (p.Glu381=)
n.398G=
n.480G=
n.353G=
c.264G= (p.Glu88=)
6g.33320108C>GCA363654527DAXXc.1404G>C (p.Glu468Asp)
c.1368G>C (p.Glu456Asp)
c.1143G>C (p.Glu381Asp)
n.398G>C
n.480G>C
n.353G>C
c.264G>C (p.Glu88Asp)
 dbSNP gnomAD v4
6g.33320108C>TCA450110062DAXXc.1404G>A (p.Glu468=)
c.1368G>A (p.Glu456=)
c.1143G>A (p.Glu381=)
n.398G>A
n.480G>A
n.353G>A
c.264G>A (p.Glu88=)
 dbSNP
6g.33320108_33320114delinsCTCCTCTCA1619962055DAXXc.1398_1404delinsAGAGGAG (p.Glu466=)
c.1362_1368delinsAGAGGAG (p.Glu454=)
c.1137_1143delinsAGAGGAG (p.Glu379=)
n.392_398delinsAGAGGAG
n.474_480delinsAGAGGAG
n.347_353delinsAGAGGAG
c.258_264delinsAGAGGAG (p.Glu86=)
6g.33320109T>ACA363654528DAXXc.1403A>T (p.Glu468Val)
c.1367A>T (p.Glu456Val)
c.1142A>T (p.Glu381Val)
n.397A>T
n.479A>T
n.352A>T
c.263A>T (p.Glu88Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33320109T>CCA363654529DAXXc.1403A>G (p.Glu468Gly)
c.1367A>G (p.Glu456Gly)
c.1142A>G (p.Glu381Gly)
n.397A>G
n.479A>G
n.352A>G
c.263A>G (p.Glu88Gly)
6g.33320109T>GCA363654530DAXXc.1403A>C (p.Glu468Ala)
c.1367A>C (p.Glu456Ala)
c.1142A>C (p.Glu381Ala)
n.397A>C
n.479A>C
n.352A>C
c.263A>C (p.Glu88Ala)
6g.33320109T=CA1619962056DAXXc.1403A= (p.Glu468=)
c.1367A= (p.Glu456=)
c.1142A= (p.Glu381=)
n.397A=
n.479A=
n.352A=
c.263A= (p.Glu88=)
6g.33320111_33320116delCA1087662148DAXXc.1398_1403del (p.Glu467_Glu468del)
c.1362_1367del (p.Glu455_Glu456del)
c.1137_1142del (p.Glu380_Glu381del)
n.392_397del
n.474_479del
n.347_352del
c.258_263del (p.Glu87_Glu88del)
 dbSNP gnomAD v3 gnomAD v4
6g.33320110C>ACA363654536DAXXc.1402G>T (p.Glu468Ter)
c.1366G>T (p.Glu456Ter)
c.1141G>T (p.Glu381Ter)
n.396G>T
n.478G>T
n.351G>T
c.262G>T (p.Glu88Ter)
6g.33320110C>GCA363654532DAXXc.1402G>C (p.Glu468Gln)
c.1366G>C (p.Glu456Gln)
c.1141G>C (p.Glu381Gln)
n.396G>C
n.478G>C
n.351G>C
c.262G>C (p.Glu88Gln)
6g.33320110C>TCA363654534DAXXc.1402G>A (p.Glu468Lys)
c.1366G>A (p.Glu456Lys)
c.1141G>A (p.Glu381Lys)
n.396G>A
n.478G>A
n.351G>A
c.262G>A (p.Glu88Lys)
6g.33320111C>ACA363654541DAXXc.1401G>T (p.Glu467Asp)
c.1365G>T (p.Glu455Asp)
c.1140G>T (p.Glu380Asp)
n.395G>T
n.477G>T
n.350G>T
c.261G>T (p.Glu87Asp)
 COSMIC
6g.33320111C=CA1619962058DAXXc.1401G= (p.Glu467=)
c.1365G= (p.Glu455=)
c.1140G= (p.Glu380=)
n.395G=
n.477G=
n.350G=
c.261G= (p.Glu87=)
6g.33320111C>GCA363654545DAXXc.1401G>C (p.Glu467Asp)
c.1365G>C (p.Glu455Asp)
c.1140G>C (p.Glu380Asp)
n.395G>C
n.477G>C
n.350G>C
c.261G>C (p.Glu87Asp)
 gnomAD v4
6g.33320111C>TCA3756553DAXXc.1401G>A (p.Glu467=)
c.1365G>A (p.Glu455=)
c.1140G>A (p.Glu380=)
n.395G>A
n.477G>A
n.350G>A
c.261G>A (p.Glu87=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33320111_33320114delinsCTCTCA1619962057DAXXc.1398_1401delinsAGAG (p.Glu466=)
c.1362_1365delinsAGAG (p.Glu454=)
c.1137_1140delinsAGAG (p.Glu379=)
n.392_395delinsAGAG
n.474_477delinsAGAG
n.347_350delinsAGAG
c.258_261delinsAGAG (p.Glu86=)
6g.33320112T>ACA363654550DAXXc.1400A>T (p.Glu467Val)
c.1364A>T (p.Glu455Val)
c.1139A>T (p.Glu380Val)
n.394A>T
n.476A>T
n.349A>T
c.260A>T (p.Glu87Val)
6g.33320112T>CCA363654551DAXXc.1400A>G (p.Glu467Gly)
c.1364A>G (p.Glu455Gly)
c.1139A>G (p.Glu380Gly)
n.394A>G
n.476A>G
n.349A>G
c.260A>G (p.Glu87Gly)
6g.33320112T>GCA363654552DAXXc.1400A>C (p.Glu467Ala)
c.1364A>C (p.Glu455Ala)
c.1139A>C (p.Glu380Ala)
n.394A>C
n.476A>C
n.349A>C
c.260A>C (p.Glu87Ala)
6g.33320120_33320122dupCA566700104DAXXc.1398_1400dup (p.Glu467_Glu468insGlu)
c.1362_1364dup (p.Glu455_Glu456insGlu)
c.1137_1139dup (p.Glu380_Glu381insGlu)
n.392_394dup
n.474_476dup
n.347_349dup
c.258_260dup (p.Glu87_Glu88insGlu)
 dbSNP gnomAD v2 gnomAD v4
6g.33320120_33320122delCA3756552DAXXc.1398_1400del (p.Glu467del)
c.1362_1364del (p.Glu455del)
c.1137_1139del (p.Glu380del)
n.392_394del
n.474_476del
n.347_349del
c.258_260del (p.Glu87del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320113C>ACA363654553DAXXc.1399G>T (p.Glu467Ter)
c.1363G>T (p.Glu455Ter)
c.1138G>T (p.Glu380Ter)
n.393G>T
n.475G>T
n.348G>T
c.259G>T (p.Glu87Ter)
6g.33320113C=CA1619962059DAXXc.1399G= (p.Glu467=)
c.1363G= (p.Glu455=)
c.1138G= (p.Glu380=)
n.393G=
n.475G=
n.348G=
c.259G= (p.Glu87=)
6g.33320113C>GCA363654555DAXXc.1399G>C (p.Glu467Gln)
c.1363G>C (p.Glu455Gln)
c.1138G>C (p.Glu380Gln)
n.393G>C
n.475G>C
n.348G>C
c.259G>C (p.Glu87Gln)
6g.33320113C>TCA363654557DAXXc.1399G>A (p.Glu467Lys)
c.1363G>A (p.Glu455Lys)
c.1138G>A (p.Glu380Lys)
n.393G>A
n.475G>A
n.348G>A
c.259G>A (p.Glu87Lys)
 dbSNP gnomAD v4
6g.33320114T>ACA363654561DAXXc.1398A>T (p.Glu466Asp)
c.1362A>T (p.Glu454Asp)
c.1137A>T (p.Glu379Asp)
n.392A>T
n.474A>T
n.347A>T
c.258A>T (p.Glu86Asp)
6g.33320114T>CCA450110066DAXXc.1398A>G (p.Glu466=)
c.1362A>G (p.Glu454=)
c.1137A>G (p.Glu379=)
n.392A>G
n.474A>G
n.347A>G
c.258A>G (p.Glu86=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.33320114T>GCA363654576DAXXc.1398A>C (p.Glu466Asp)
c.1362A>C (p.Glu454Asp)
c.1137A>C (p.Glu379Asp)
n.392A>C
n.474A>C
n.347A>C
c.258A>C (p.Glu86Asp)
6g.33320114T=CA1619962061DAXXc.1398A= (p.Glu466=)
c.1362A= (p.Glu454=)
c.1137A= (p.Glu379=)
n.392A=
n.474A=
n.347A=
c.258A= (p.Glu86=)
6g.33320114_33320135delinsTTCTTCTTCCTCCTCCTCCTCCCA1619962060DAXXc.1377_1398delinsGGAGGAGGAGGAGGAAGAAGAA (p.Glu459=)
c.1341_1362delinsGGAGGAGGAGGAGGAAGAAGAA (p.Glu447=)
c.1116_1137delinsGGAGGAGGAGGAGGAAGAAGAA (p.Glu372=)
n.371_392delinsGGAGGAGGAGGAGGAAGAAGAA
n.453_474delinsGGAGGAGGAGGAGGAAGAAGAA
n.326_347delinsGGAGGAGGAGGAGGAAGAAGAA
c.237_258delinsGGAGGAGGAGGAGGAAGAAGAA (p.Glu79=)
6g.33320115T>ACA363654602DAXXc.1397A>T (p.Glu466Val)
c.1361A>T (p.Glu454Val)
c.1136A>T (p.Glu379Val)
n.391A>T
n.473A>T
n.346A>T
c.257A>T (p.Glu86Val)
6g.33320115T>CCA363654594DAXXc.1397A>G (p.Glu466Gly)
c.1361A>G (p.Glu454Gly)
c.1136A>G (p.Glu379Gly)
n.391A>G
n.473A>G
n.346A>G
c.257A>G (p.Glu86Gly)
 dbSNP
6g.33320115T>GCA363654598DAXXc.1397A>C (p.Glu466Ala)
c.1361A>C (p.Glu454Ala)
c.1136A>C (p.Glu379Ala)
n.391A>C
n.473A>C
n.346A>C
c.257A>C (p.Glu86Ala)
6g.33320120_33320140delCA824027517DAXXc.1377_1397del (p.Glu460_Glu466del)
c.1341_1361del (p.Glu448_Glu454del)
c.1116_1136del (p.Glu373_Glu379del)
n.371_391del
n.453_473del
n.326_346del
c.237_257del (p.Glu80_Glu86del)
 dbSNP
6g.33320116C>ACA363654609DAXXc.1396G>T (p.Glu466Ter)
c.1360G>T (p.Glu454Ter)
c.1135G>T (p.Glu379Ter)
n.390G>T
n.472G>T
n.345G>T
c.256G>T (p.Glu86Ter)
 dbSNP
6g.33320116C>GCA363654612DAXXc.1396G>C (p.Glu466Gln)
c.1360G>C (p.Glu454Gln)
c.1135G>C (p.Glu379Gln)
n.390G>C
n.472G>C
n.345G>C
c.256G>C (p.Glu86Gln)
6g.33320116C>TCA363654613DAXXc.1396G>A (p.Glu466Lys)
c.1360G>A (p.Glu454Lys)
c.1135G>A (p.Glu379Lys)
n.390G>A
n.472G>A
n.345G>A
c.256G>A (p.Glu86Lys)
 dbSNP
6g.33320117T>ACA363654614DAXXc.1395A>T (p.Glu465Asp)
c.1359A>T (p.Glu453Asp)
c.1134A>T (p.Glu378Asp)
n.389A>T
n.471A>T
n.344A>T
c.255A>T (p.Glu85Asp)
6g.33320117T>CCA450110069DAXXc.1395A>G (p.Glu465=)
c.1359A>G (p.Glu453=)
c.1134A>G (p.Glu378=)
n.389A>G
n.471A>G
n.344A>G
c.255A>G (p.Glu85=)
6g.33320117T>GCA363654615DAXXc.1395A>C (p.Glu465Asp)
c.1359A>C (p.Glu453Asp)
c.1134A>C (p.Glu378Asp)
n.389A>C
n.471A>C
n.344A>C
c.255A>C (p.Glu85Asp)
 gnomAD v4
6g.33320118T>ACA363654630DAXXc.1394A>T (p.Glu465Val)
c.1358A>T (p.Glu453Val)
c.1133A>T (p.Glu378Val)
n.388A>T
n.470A>T
n.343A>T
c.254A>T (p.Glu85Val)
6g.33320118T>CCA363654629DAXXc.1394A>G (p.Glu465Gly)
c.1358A>G (p.Glu453Gly)
c.1133A>G (p.Glu378Gly)
n.388A>G
n.470A>G
n.343A>G
c.254A>G (p.Glu85Gly)
6g.33320118T>GCA363654620DAXXc.1394A>C (p.Glu465Ala)
c.1358A>C (p.Glu453Ala)
c.1133A>C (p.Glu378Ala)
n.388A>C
n.470A>C
n.343A>C
c.254A>C (p.Glu85Ala)
6g.33320124_33320125insGCTCCTCCTCCTCTTCCTCTTCCTCA2770568693DAXXc.1394_1395insGGAAGAGGAGGAGGAGCAGGAAGA (p.Glu465_Glu466insGluGluGluGluGluGlnGluGlu)
c.1358_1359insGGAAGAGGAGGAGGAGCAGGAAGA (p.Glu453_Glu454insGluGluGluGluGluGlnGluGlu)
c.1133_1134insGGAAGAGGAGGAGGAGCAGGAAGA (p.Glu378_Glu379insGluGluGluGluGluGlnGluGlu)
n.388_389insGGAAGAGGAGGAGGAGCAGGAAGA
n.470_471insGGAAGAGGAGGAGGAGCAGGAAGA
n.343_344insGGAAGAGGAGGAGGAGCAGGAAGA
c.254_255insGGAAGAGGAGGAGGAGCAGGAAGA (p.Glu85_Glu86insGluGluGluGluGluGlnGluGlu)
6g.33320126_33320143delCA2678255480DAXXc.1377_1394del (p.Glu460_Glu465del)
c.1341_1358del (p.Glu448_Glu453del)
c.1116_1133del (p.Glu373_Glu378del)
n.371_388del
n.453_470del
n.326_343del
c.237_254del (p.Glu80_Glu85del)
 gnomAD v4
6g.33320119C>ACA363654635DAXXc.1393G>T (p.Glu465Ter)
c.1357G>T (p.Glu453Ter)
c.1132G>T (p.Glu378Ter)
n.387G>T
n.469G>T
n.342G>T
c.253G>T (p.Glu85Ter)
6g.33320119C>GCA363654643DAXXc.1393G>C (p.Glu465Gln)
c.1357G>C (p.Glu453Gln)
c.1132G>C (p.Glu378Gln)
n.387G>C
n.469G>C
n.342G>C
c.253G>C (p.Glu85Gln)
6g.33320119C>TCA363654649DAXXc.1393G>A (p.Glu465Lys)
c.1357G>A (p.Glu453Lys)
c.1132G>A (p.Glu378Lys)
n.387G>A
n.469G>A
n.342G>A
c.253G>A (p.Glu85Lys)
 dbSNP
6g.33320120T>ACA363654654DAXXc.1392A>T (p.Glu464Asp)
c.1356A>T (p.Glu452Asp)
c.1131A>T (p.Glu377Asp)
n.386A>T
n.468A>T
n.341A>T
c.252A>T (p.Glu84Asp)
6g.33320120T>CCA3756556DAXXc.1392A>G (p.Glu464=)
c.1356A>G (p.Glu452=)
c.1131A>G (p.Glu377=)
n.386A>G
n.468A>G
n.341A>G
c.252A>G (p.Glu84=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33320120T>GCA363654659DAXXc.1392A>C (p.Glu464Asp)
c.1356A>C (p.Glu452Asp)
c.1131A>C (p.Glu377Asp)
n.386A>C
n.468A>C
n.341A>C
c.252A>C (p.Glu84Asp)
6g.33320120T=CA1619962062DAXXc.1392A= (p.Glu464=)
c.1356A= (p.Glu452=)
c.1131A= (p.Glu377=)
n.386A=
n.468A=
n.341A=
c.252A= (p.Glu84=)
6g.33320120_33320126delinsTTCCTCCCA1619962063DAXXc.1386_1392delinsGGAGGAA (p.Glu462=)
c.1350_1356delinsGGAGGAA (p.Glu450=)
c.1125_1131delinsGGAGGAA (p.Glu375=)
n.380_386delinsGGAGGAA
n.462_468delinsGGAGGAA
n.335_341delinsGGAGGAA
c.246_252delinsGGAGGAA (p.Glu82=)
6g.33320121T>ACA363654664DAXXc.1391A>T (p.Glu464Val)
c.1355A>T (p.Glu452Val)
c.1130A>T (p.Glu377Val)
n.385A>T
n.467A>T
n.340A>T
c.251A>T (p.Glu84Val)
6g.33320121T>CCA363654719DAXXc.1391A>G (p.Glu464Gly)
c.1355A>G (p.Glu452Gly)
c.1130A>G (p.Glu377Gly)
n.385A>G
n.467A>G
n.340A>G
c.251A>G (p.Glu84Gly)
6g.33320121T>GCA363654686DAXXc.1391A>C (p.Glu464Ala)
c.1355A>C (p.Glu452Ala)
c.1130A>C (p.Glu377Ala)
n.385A>C
n.467A>C
n.340A>C
c.251A>C (p.Glu84Ala)
6g.33320135_33320137dupCA3756557DAXXc.1389_1391dup (p.Glu464_Glu465insGlu)
c.1353_1355dup (p.Glu452_Glu453insGlu)
c.1128_1130dup (p.Glu377_Glu378insGlu)
n.383_385dup
n.465_467dup
n.338_340dup
c.249_251dup (p.Glu84_Glu85insGlu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320132_33320137dupCA566700105DAXXc.1386_1391dup (p.Glu464_Glu465insGluGlu)
c.1350_1355dup (p.Glu452_Glu453insGluGlu)
c.1125_1130dup (p.Glu377_Glu378insGluGlu)
n.380_385dup
n.462_467dup
n.335_340dup
c.246_251dup (p.Glu84_Glu85insGluGlu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33320129_33320137dupCA2536340610DAXXc.1383_1391dup (p.Glu464_Glu465insGluGluGlu)
c.1347_1355dup (p.Glu452_Glu453insGluGluGlu)
c.1122_1130dup (p.Glu377_Glu378insGluGluGlu)
n.377_385dup
n.459_467dup
n.332_340dup
c.243_251dup (p.Glu84_Glu85insGluGluGlu)
 gnomAD v4
6g.33320135_33320137delCA3756554DAXXc.1389_1391del (p.Glu464del)
c.1353_1355del (p.Glu452del)
c.1128_1130del (p.Glu377del)
n.383_385del
n.465_467del
n.338_340del
c.249_251del (p.Glu84del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33320132_33320137delCA3756555DAXXc.1386_1391del (p.Glu463_Glu464del)
c.1350_1355del (p.Glu451_Glu452del)
c.1125_1130del (p.Glu376_Glu377del)
n.380_385del
n.462_467del
n.335_340del
c.246_251del (p.Glu83_Glu84del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320122C>ACA363654725DAXXc.1390G>T (p.Glu464Ter)
c.1354G>T (p.Glu452Ter)
c.1129G>T (p.Glu377Ter)
n.384G>T
n.466G>T
n.339G>T
c.250G>T (p.Glu84Ter)
6g.33320122C=CA1619962064DAXXc.1390G= (p.Glu464=)
c.1354G= (p.Glu452=)
c.1129G= (p.Glu377=)
n.384G=
n.466G=
n.339G=
c.250G= (p.Glu84=)
6g.33320122C>GCA363654726DAXXc.1390G>C (p.Glu464Gln)
c.1354G>C (p.Glu452Gln)
c.1129G>C (p.Glu377Gln)
n.384G>C
n.466G>C
n.339G>C
c.250G>C (p.Glu84Gln)
6g.33320122C>TCA363654727DAXXc.1390G>A (p.Glu464Lys)
c.1354G>A (p.Glu452Lys)
c.1129G>A (p.Glu377Lys)
n.384G>A
n.466G>A
n.339G>A
c.250G>A (p.Glu84Lys)
 dbSNP
6g.33320123C>ACA363654728DAXXc.1389G>T (p.Glu463Asp)
c.1353G>T (p.Glu451Asp)
c.1128G>T (p.Glu376Asp)
n.383G>T
n.465G>T
n.338G>T
c.249G>T (p.Glu83Asp)
6g.33320123C=CA1619962065DAXXc.1389G= (p.Glu463=)
c.1353G= (p.Glu451=)
c.1128G= (p.Glu376=)
n.383G=
n.465G=
n.338G=
c.249G= (p.Glu83=)
6g.33320123C>GCA363654730DAXXc.1389G>C (p.Glu463Asp)
c.1353G>C (p.Glu451Asp)
c.1128G>C (p.Glu376Asp)
n.383G>C
n.465G>C
n.338G>C
c.249G>C (p.Glu83Asp)
 gnomAD v4
6g.33320123C>TCA137060528DAXXc.1389G>A (p.Glu463=)
c.1353G>A (p.Glu451=)
c.1128G>A (p.Glu376=)
n.383G>A
n.465G>A
n.338G>A
c.249G>A (p.Glu83=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.33320124T>ACA363654736DAXXc.1388A>T (p.Glu463Val)
c.1352A>T (p.Glu451Val)
c.1127A>T (p.Glu376Val)
n.382A>T
n.464A>T
n.337A>T
c.248A>T (p.Glu83Val)
6g.33320124T>CCA363654745DAXXc.1388A>G (p.Glu463Gly)
c.1352A>G (p.Glu451Gly)
c.1127A>G (p.Glu376Gly)
n.382A>G
n.464A>G
n.337A>G
c.248A>G (p.Glu83Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.33320124T>GCA363654755DAXXc.1388A>C (p.Glu463Ala)
c.1352A>C (p.Glu451Ala)
c.1127A>C (p.Glu376Ala)
n.382A>C
n.464A>C
n.337A>C
c.248A>C (p.Glu83Ala)
6g.33320124T=CA1619962066DAXXc.1388A= (p.Glu463=)
c.1352A= (p.Glu451=)
c.1127A= (p.Glu376=)
n.382A=
n.464A=
n.337A=
c.248A= (p.Glu83=)
6g.33320125C>ACA363654758DAXXc.1387G>T (p.Glu463Ter)
c.1351G>T (p.Glu451Ter)
c.1126G>T (p.Glu376Ter)
n.381G>T
n.463G>T
n.336G>T
c.247G>T (p.Glu83Ter)
6g.33320125C=CA1619962067DAXXc.1387G= (p.Glu463=)
c.1351G= (p.Glu451=)
c.1126G= (p.Glu376=)
n.381G=
n.463G=
n.336G=
c.247G= (p.Glu83=)
6g.33320125C>GCA363654764DAXXc.1387G>C (p.Glu463Gln)
c.1351G>C (p.Glu451Gln)
c.1126G>C (p.Glu376Gln)
n.381G>C
n.463G>C
n.336G>C
c.247G>C (p.Glu83Gln)
6g.33320125C>TCA3756558DAXXc.1387G>A (p.Glu463Lys)
c.1351G>A (p.Glu451Lys)
c.1126G>A (p.Glu376Lys)
n.381G>A
n.463G>A
n.336G>A
c.247G>A (p.Glu83Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33320126C>ACA363654765DAXXc.1386G>T (p.Glu462Asp)
c.1350G>T (p.Glu450Asp)
c.1125G>T (p.Glu375Asp)
n.380G>T
n.462G>T
n.335G>T
c.246G>T (p.Glu82Asp)
6g.33320126C=CA1619962069DAXXc.1386G= (p.Glu462=)
c.1350G= (p.Glu450=)
c.1125G= (p.Glu375=)
n.380G=
n.462G=
n.335G=
c.246G= (p.Glu82=)
6g.33320126C>GCA363654766DAXXc.1386G>C (p.Glu462Asp)
c.1350G>C (p.Glu450Asp)
c.1125G>C (p.Glu375Asp)
n.380G>C
n.462G>C
n.335G>C
c.246G>C (p.Glu82Asp)
 dbSNP
6g.33320126C>TCA450110073DAXXc.1386G>A (p.Glu462=)
c.1350G>A (p.Glu450=)
c.1125G>A (p.Glu375=)
n.380G>A
n.462G>A
n.335G>A
c.246G>A (p.Glu82=)
 dbSNP
6g.33320126_33320144delinsCTCCTCCTCCTCTTCCTCACA1619962068DAXXc.1368_1386delinsTGAGGAAGAGGAGGAGGAG (p.Asp456=)
c.1332_1350delinsTGAGGAAGAGGAGGAGGAG (p.Asp444=)
c.1107_1125delinsTGAGGAAGAGGAGGAGGAG (p.Asp369=)
n.362_380delinsTGAGGAAGAGGAGGAGGAG
n.444_462delinsTGAGGAAGAGGAGGAGGAG
n.317_335delinsTGAGGAAGAGGAGGAGGAG
c.228_246delinsTGAGGAAGAGGAGGAGGAG (p.Asp76=)
6g.33320127T>ACA363654767DAXXc.1385A>T (p.Glu462Val)
c.1349A>T (p.Glu450Val)
c.1124A>T (p.Glu375Val)
n.379A>T
n.461A>T
n.334A>T
c.245A>T (p.Glu82Val)
6g.33320127T>CCA363654780DAXXc.1385A>G (p.Glu462Gly)
c.1349A>G (p.Glu450Gly)
c.1124A>G (p.Glu375Gly)
n.379A>G
n.461A>G
n.334A>G
c.245A>G (p.Glu82Gly)
6g.33320127T>GCA363654791DAXXc.1385A>C (p.Glu462Ala)
c.1349A>C (p.Glu450Ala)
c.1124A>C (p.Glu375Ala)
n.379A>C
n.461A>C
n.334A>C
c.245A>C (p.Glu82Ala)
6g.33320129_33320146delCA917719645DAXXc.1368_1385del (p.Asp456_Glu461del)
c.1332_1349del (p.Asp444_Glu449del)
c.1107_1124del (p.Asp369_Glu374del)
n.362_379del
n.444_461del
n.317_334del
c.228_245del (p.Asp76_Glu81del)
 dbSNP
6g.33320128C>ACA363654797DAXXc.1384G>T (p.Glu462Ter)
c.1348G>T (p.Glu450Ter)
c.1123G>T (p.Glu375Ter)
n.378G>T
n.460G>T
n.333G>T
c.244G>T (p.Glu82Ter)
6g.33320128C=CA1619962070DAXXc.1384G= (p.Glu462=)
c.1348G= (p.Glu450=)
c.1123G= (p.Glu375=)
n.378G=
n.460G=
n.333G=
c.244G= (p.Glu82=)
6g.33320128C>GCA363654800DAXXc.1384G>C (p.Glu462Gln)
c.1348G>C (p.Glu450Gln)
c.1123G>C (p.Glu375Gln)
n.378G>C
n.460G>C
n.333G>C
c.244G>C (p.Glu82Gln)
 dbSNP
6g.33320128C>TCA363654811DAXXc.1384G>A (p.Glu462Lys)
c.1348G>A (p.Glu450Lys)
c.1123G>A (p.Glu375Lys)
n.378G>A
n.460G>A
n.333G>A
c.244G>A (p.Glu82Lys)
 dbSNP
6g.33320129C>ACA363654818DAXXc.1383G>T (p.Glu461Asp)
c.1347G>T (p.Glu449Asp)
c.1122G>T (p.Glu374Asp)
n.377G>T
n.459G>T
n.332G>T
c.243G>T (p.Glu81Asp)
6g.33320129C=CA1619962071DAXXc.1383G= (p.Glu461=)
c.1347G= (p.Glu449=)
c.1122G= (p.Glu374=)
n.377G=
n.459G=
n.332G=
c.243G= (p.Glu81=)
6g.33320129C>GCA363654824DAXXc.1383G>C (p.Glu461Asp)
c.1347G>C (p.Glu449Asp)
c.1122G>C (p.Glu374Asp)
n.377G>C
n.459G>C
n.332G>C
c.243G>C (p.Glu81Asp)
6g.33320129C>TCA3756559DAXXc.1383G>A (p.Glu461=)
c.1347G>A (p.Glu449=)
c.1122G>A (p.Glu374=)
n.377G>A
n.459G>A
n.332G>A
c.243G>A (p.Glu81=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320130T>ACA363654832DAXXc.1382A>T (p.Glu461Val)
c.1346A>T (p.Glu449Val)
c.1121A>T (p.Glu374Val)
n.376A>T
n.458A>T
n.331A>T
c.242A>T (p.Glu81Val)
6g.33320130T>CCA363654833DAXXc.1382A>G (p.Glu461Gly)
c.1346A>G (p.Glu449Gly)
c.1121A>G (p.Glu374Gly)
n.376A>G
n.458A>G
n.331A>G
c.242A>G (p.Glu81Gly)
6g.33320130T>GCA363654834DAXXc.1382A>C (p.Glu461Ala)
c.1346A>C (p.Glu449Ala)
c.1121A>C (p.Glu374Ala)
n.376A>C
n.458A>C
n.331A>C
c.242A>C (p.Glu81Ala)
6g.33320131C>ACA363654847DAXXc.1381G>T (p.Glu461Ter)
c.1345G>T (p.Glu449Ter)
c.1120G>T (p.Glu374Ter)
n.375G>T
n.457G>T
n.330G>T
c.241G>T (p.Glu81Ter)
6g.33320131C=CA1619962072DAXXc.1381G= (p.Glu461=)
c.1345G= (p.Glu449=)
c.1120G= (p.Glu374=)
n.375G=
n.457G=
n.330G=
c.241G= (p.Glu81=)
6g.33320131C>GCA363654835DAXXc.1381G>C (p.Glu461Gln)
c.1345G>C (p.Glu449Gln)
c.1120G>C (p.Glu374Gln)
n.375G>C
n.457G>C
n.330G>C
c.241G>C (p.Glu81Gln)
6g.33320131C>TCA3756560DAXXc.1381G>A (p.Glu461Lys)
c.1345G>A (p.Glu449Lys)
c.1120G>A (p.Glu374Lys)
n.375G>A
n.457G>A
n.330G>A
c.241G>A (p.Glu81Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33320132C>ACA363654870DAXXc.1380G>T (p.Glu460Asp)
c.1344G>T (p.Glu448Asp)
c.1119G>T (p.Glu373Asp)
n.374G>T
n.456G>T
n.329G>T
c.240G>T (p.Glu80Asp)
6g.33320132C>GCA363654873DAXXc.1380G>C (p.Glu460Asp)
c.1344G>C (p.Glu448Asp)
c.1119G>C (p.Glu373Asp)
n.374G>C
n.456G>C
n.329G>C
c.240G>C (p.Glu80Asp)
6g.33320132C>TCA450110074DAXXc.1380G>A (p.Glu460=)
c.1344G>A (p.Glu448=)
c.1119G>A (p.Glu373=)
n.374G>A
n.456G>A
n.329G>A
c.240G>A (p.Glu80=)
 dbSNP gnomAD v4
6g.33320132_33320138delinsCTCCTCTCA1619962074DAXXc.1374_1380delinsAGAGGAG (p.Glu458=)
c.1338_1344delinsAGAGGAG (p.Glu446=)
c.1113_1119delinsAGAGGAG (p.Glu371=)
n.368_374delinsAGAGGAG
n.450_456delinsAGAGGAG
n.323_329delinsAGAGGAG
c.234_240delinsAGAGGAG (p.Glu78=)
6g.33320134_33320138dupCA1619962073DAXXc.1376_1380dup (p.Glu461ArgfsTer?)
c.1340_1344dup (p.Glu449ArgfsTer?)
c.1115_1119dup (p.Glu374ArgfsTer?)
n.370_374dup
n.452_456dup
n.325_329dup
c.236_240dup (p.Glu81ArgfsTer?)
 dbSNP
6g.33320133T>ACA363654877DAXXc.1379A>T (p.Glu460Val)
c.1343A>T (p.Glu448Val)
c.1118A>T (p.Glu373Val)
n.373A>T
n.455A>T
n.328A>T
c.239A>T (p.Glu80Val)
6g.33320133T>CCA363654879DAXXc.1379A>G (p.Glu460Gly)
c.1343A>G (p.Glu448Gly)
c.1118A>G (p.Glu373Gly)
n.373A>G
n.455A>G
n.328A>G
c.239A>G (p.Glu80Gly)
6g.33320133T>GCA363654883DAXXc.1379A>C (p.Glu460Ala)
c.1343A>C (p.Glu448Ala)
c.1118A>C (p.Glu373Ala)
n.373A>C
n.455A>C
n.328A>C
c.239A>C (p.Glu80Ala)
6g.33320138_33320143dupCA2678255514DAXXc.1374_1379dup (p.Glu460_Glu461insGluGlu)
c.1338_1343dup (p.Glu448_Glu449insGluGlu)
c.1113_1118dup (p.Glu373_Glu374insGluGlu)
n.368_373dup
n.450_455dup
n.323_328dup
c.234_239dup (p.Glu80_Glu81insGluGlu)
 gnomAD v4
6g.33320138_33320143delCA3756561DAXXc.1374_1379del (p.Glu459_Glu460del)
c.1338_1343del (p.Glu447_Glu448del)
c.1113_1118del (p.Glu372_Glu373del)
n.368_373del
n.450_455del
n.323_328del
c.234_239del (p.Glu79_Glu80del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320134C>ACA363654890DAXXc.1378G>T (p.Glu460Ter)
c.1342G>T (p.Glu448Ter)
c.1117G>T (p.Glu373Ter)
n.372G>T
n.454G>T
n.327G>T
c.238G>T (p.Glu80Ter)
 COSMIC
6g.33320134C=CA1619962075DAXXc.1378G= (p.Glu460=)
c.1342G= (p.Glu448=)
c.1117G= (p.Glu373=)
n.372G=
n.454G=
n.327G=
c.238G= (p.Glu80=)
6g.33320134C>GCA363654892DAXXc.1378G>C (p.Glu460Gln)
c.1342G>C (p.Glu448Gln)
c.1117G>C (p.Glu373Gln)
n.372G>C
n.454G>C
n.327G>C
c.238G>C (p.Glu80Gln)
6g.33320134C>TCA363654893DAXXc.1378G>A (p.Glu460Lys)
c.1342G>A (p.Glu448Lys)
c.1117G>A (p.Glu373Lys)
n.372G>A
n.454G>A
n.327G>A
c.238G>A (p.Glu80Lys)
 dbSNP gnomAD v4
6g.33320135C>ACA363654907DAXXc.1377G>T (p.Glu459Asp)
c.1341G>T (p.Glu447Asp)
c.1116G>T (p.Glu372Asp)
n.371G>T
n.453G>T
n.326G>T
c.237G>T (p.Glu79Asp)
6g.33320135C=CA1619962077DAXXc.1377G= (p.Glu459=)
c.1341G= (p.Glu447=)
c.1116G= (p.Glu372=)
n.371G=
n.453G=
n.326G=
c.237G= (p.Glu79=)
6g.33320135C>GCA363654901DAXXc.1377G>C (p.Glu459Asp)
c.1341G>C (p.Glu447Asp)
c.1116G>C (p.Glu372Asp)
n.371G>C
n.453G>C
n.326G>C
c.237G>C (p.Glu79Asp)
 gnomAD v4
6g.33320135C>TCA3756562DAXXc.1377G>A (p.Glu459=)
c.1341G>A (p.Glu447=)
c.1116G>A (p.Glu372=)
n.371G>A
n.453G>A
n.326G>A
c.237G>A (p.Glu79=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33320135_33320138delinsCTCTCA1619962076DAXXc.1374_1377delinsAGAG (p.Glu458=)
c.1338_1341delinsAGAG (p.Glu446=)
c.1113_1116delinsAGAG (p.Glu371=)
n.368_371delinsAGAG
n.450_453delinsAGAG
n.323_326delinsAGAG
c.234_237delinsAGAG (p.Glu78=)
6g.33320136T>ACA363654915DAXXc.1376A>T (p.Glu459Val)
c.1340A>T (p.Glu447Val)
c.1115A>T (p.Glu372Val)
n.370A>T
n.452A>T
n.325A>T
c.236A>T (p.Glu79Val)
6g.33320136T>CCA363654930DAXXc.1376A>G (p.Glu459Gly)
c.1340A>G (p.Glu447Gly)
c.1115A>G (p.Glu372Gly)
n.370A>G
n.452A>G
n.325A>G
c.236A>G (p.Glu79Gly)
6g.33320136T>GCA363654946DAXXc.1376A>C (p.Glu459Ala)
c.1340A>C (p.Glu447Ala)
c.1115A>C (p.Glu372Ala)
n.370A>C
n.452A>C
n.325A>C
c.236A>C (p.Glu79Ala)
6g.33320138_33320140delCA1087662187DAXXc.1374_1376del (p.Glu459del)
c.1338_1340del (p.Glu447del)
c.1113_1115del (p.Glu372del)
n.368_370del
n.450_452del
n.323_325del
c.234_236del (p.Glu79del)
 dbSNP gnomAD v3 gnomAD v4
6g.33320137C>ACA363654949DAXXc.1375G>T (p.Glu459Ter)
c.1339G>T (p.Glu447Ter)
c.1114G>T (p.Glu372Ter)
n.369G>T
n.451G>T
n.324G>T
c.235G>T (p.Glu79Ter)
6g.33320137C=CA1619962078DAXXc.1375G= (p.Glu459=)
c.1339G= (p.Glu447=)
c.1114G= (p.Glu372=)
n.369G=
n.451G=
n.324G=
c.235G= (p.Glu79=)
6g.33320137C>GCA3756563DAXXc.1375G>C (p.Glu459Gln)
c.1339G>C (p.Glu447Gln)
c.1114G>C (p.Glu372Gln)
n.369G>C
n.451G>C
n.324G>C
c.235G>C (p.Glu79Gln)
 dbSNP ExAC gnomAD v2
6g.33320137C>TCA363654959DAXXc.1375G>A (p.Glu459Lys)
c.1339G>A (p.Glu447Lys)
c.1114G>A (p.Glu372Lys)
n.369G>A
n.451G>A
n.324G>A
c.235G>A (p.Glu79Lys)
6g.33320138T>ACA363654962DAXXc.1374A>T (p.Glu458Asp)
c.1338A>T (p.Glu446Asp)
c.1113A>T (p.Glu371Asp)
n.368A>T
n.450A>T
n.323A>T
c.234A>T (p.Glu78Asp)
6g.33320138T>CCA3756564DAXXc.1374A>G (p.Glu458=)
c.1338A>G (p.Glu446=)
c.1113A>G (p.Glu371=)
n.368A>G
n.450A>G
n.323A>G
c.234A>G (p.Glu78=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33320138T>GCA363654970DAXXc.1374A>C (p.Glu458Asp)
c.1338A>C (p.Glu446Asp)
c.1113A>C (p.Glu371Asp)
n.368A>C
n.450A>C
n.323A>C
c.234A>C (p.Glu78Asp)
6g.33320138T=CA1619962079DAXXc.1374A= (p.Glu458=)
c.1338A= (p.Glu446=)
c.1113A= (p.Glu371=)
n.368A=
n.450A=
n.323A=
c.234A= (p.Glu78=)
6g.33320138_33320150delinsTTCCTCATCACTCCA1619962080DAXXc.1362_1374delinsGAGTGATGAGGAA (p.Glu454=)
c.1326_1338delinsGAGTGATGAGGAA (p.Glu442=)
c.1101_1113delinsGAGTGATGAGGAA (p.Glu367=)
n.356_368delinsGAGTGATGAGGAA
n.438_450delinsGAGTGATGAGGAA
n.311_323delinsGAGTGATGAGGAA
c.222_234delinsGAGTGATGAGGAA (p.Glu74=)
6g.33320139T>ACA363654973DAXXc.1373A>T (p.Glu458Val)
c.1337A>T (p.Glu446Val)
c.1112A>T (p.Glu371Val)
n.367A>T
n.449A>T
n.322A>T
c.233A>T (p.Glu78Val)
6g.33320139T>CCA363654974DAXXc.1373A>G (p.Glu458Gly)
c.1337A>G (p.Glu446Gly)
c.1112A>G (p.Glu371Gly)
n.367A>G
n.449A>G
n.322A>G
c.233A>G (p.Glu78Gly)
6g.33320139T>GCA363654976DAXXc.1373A>C (p.Glu458Ala)
c.1337A>C (p.Glu446Ala)
c.1112A>C (p.Glu371Ala)
n.367A>C
n.449A>C
n.322A>C
c.233A>C (p.Glu78Ala)
6g.33320139_33320140delinsTCCA1619962081DAXXc.1372_1373delinsGA (p.Glu458=)
c.1336_1337delinsGA (p.Glu446=)
c.1111_1112delinsGA (p.Glu371=)
n.366_367delinsGA
n.448_449delinsGA
n.321_322delinsGA
c.232_233delinsGA (p.Glu78=)
6g.33320141_33320143delCA913110433DAXXc.1371_1373del (p.Glu458del)
c.1335_1337del (p.Glu446del)
c.1110_1112del (p.Glu371del)
n.365_367del
n.447_449del
n.320_322del
c.231_233del (p.Glu78del)
 gnomAD v4
6g.33320147_33320158delCA917719648DAXXc.1362_1373del (p.Ser455_Glu458del)
c.1326_1337del (p.Ser443_Glu446del)
c.1101_1112del (p.Ser368_Glu371del)
n.356_367del
n.438_449del
n.311_322del
c.222_233del (p.Ser75_Glu78del)
 dbSNP
6g.33320140C>ACA363654987DAXXc.1372G>T (p.Glu458Ter)
c.1336G>T (p.Glu446Ter)
c.1111G>T (p.Glu371Ter)
n.366G>T
n.448G>T
n.321G>T
c.232G>T (p.Glu78Ter)
6g.33320140C=CA1619962082DAXXc.1372G= (p.Glu458=)
c.1336G= (p.Glu446=)
c.1111G= (p.Glu371=)
n.366G=
n.448G=
n.321G=
c.232G= (p.Glu78=)
6g.33320140C>GCA363654979DAXXc.1372G>C (p.Glu458Gln)
c.1336G>C (p.Glu446Gln)
c.1111G>C (p.Glu371Gln)
n.366G>C
n.448G>C
n.321G>C
c.232G>C (p.Glu78Gln)
6g.33320140C>TCA363654983DAXXc.1372G>A (p.Glu458Lys)
c.1336G>A (p.Glu446Lys)
c.1111G>A (p.Glu371Lys)
n.366G>A
n.448G>A
n.321G>A
c.232G>A (p.Glu78Lys)
 dbSNP
6g.33320141delCA566700139DAXXc.1372del (p.Glu458LysfsTer?)
c.1336del (p.Glu446LysfsTer?)
c.1111del (p.Glu371LysfsTer?)
n.366del
n.448del
n.321del
c.232del (p.Glu78LysfsTer?)
 dbSNP gnomAD v2 gnomAD v4
6g.33320141C>ACA363654993DAXXc.1371G>T (p.Glu457Asp)
c.1335G>T (p.Glu445Asp)
c.1110G>T (p.Glu370Asp)
n.365G>T
n.447G>T
n.320G>T
c.231G>T (p.Glu77Asp)
6g.33320141C=CA1619962083DAXXc.1371G= (p.Glu457=)
c.1335G= (p.Glu445=)
c.1110G= (p.Glu370=)
n.365G=
n.447G=
n.320G=
c.231G= (p.Glu77=)
6g.33320141C>GCA363655017DAXXc.1371G>C (p.Glu457Asp)
c.1335G>C (p.Glu445Asp)
c.1110G>C (p.Glu370Asp)
n.365G>C
n.447G>C
n.320G>C
c.231G>C (p.Glu77Asp)
 dbSNP gnomAD v4
6g.33320141C>TCA137060529DAXXc.1371G>A (p.Glu457=)
c.1335G>A (p.Glu445=)
c.1110G>A (p.Glu370=)
n.365G>A
n.447G>A
n.320G>A
c.231G>A (p.Glu77=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33320142T>ACA363655018DAXXc.1370A>T (p.Glu457Val)
c.1334A>T (p.Glu445Val)
c.1109A>T (p.Glu370Val)
n.364A>T
n.446A>T
n.319A>T
c.230A>T (p.Glu77Val)
6g.33320142T>CCA363655028DAXXc.1370A>G (p.Glu457Gly)
c.1334A>G (p.Glu445Gly)
c.1109A>G (p.Glu370Gly)
n.364A>G
n.446A>G
n.319A>G
c.230A>G (p.Glu77Gly)
6g.33320142T>GCA363655037DAXXc.1370A>C (p.Glu457Ala)
c.1334A>C (p.Glu445Ala)
c.1109A>C (p.Glu370Ala)
n.364A>C
n.446A>C
n.319A>C
c.230A>C (p.Glu77Ala)
6g.33320143C>ACA363655042DAXXc.1369G>T (p.Glu457Ter)
c.1333G>T (p.Glu445Ter)
c.1108G>T (p.Glu370Ter)
n.363G>T
n.445G>T
n.318G>T
c.229G>T (p.Glu77Ter)
6g.33320143C=CA1619962084DAXXc.1369G= (p.Glu457=)
c.1333G= (p.Glu445=)
c.1108G= (p.Glu370=)
n.363G=
n.445G=
n.318G=
c.229G= (p.Glu77=)
6g.33320143C>GCA363655045DAXXc.1369G>C (p.Glu457Gln)
c.1333G>C (p.Glu445Gln)
c.1108G>C (p.Glu370Gln)
n.363G>C
n.445G>C
n.318G>C
c.229G>C (p.Glu77Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.33320143C>TCA363655048DAXXc.1369G>A (p.Glu457Lys)
c.1333G>A (p.Glu445Lys)
c.1108G>A (p.Glu370Lys)
n.363G>A
n.445G>A
n.318G>A
c.229G>A (p.Glu77Lys)
 dbSNP gnomAD v4
6g.33320144A>CCA363655050DAXXc.1368T>G (p.Asp456Glu)
c.1332T>G (p.Asp444Glu)
c.1107T>G (p.Asp369Glu)
n.362T>G
n.444T>G
n.317T>G
c.228T>G (p.Asp76Glu)
 dbSNP
6g.33320144A>GCA450110075DAXXc.1368T>C (p.Asp456=)
c.1332T>C (p.Asp444=)
c.1107T>C (p.Asp369=)
n.362T>C
n.444T>C
n.317T>C
c.228T>C (p.Asp76=)
 COSMIC
6g.33320144A>TCA363655053DAXXc.1368T>A (p.Asp456Glu)
c.1332T>A (p.Asp444Glu)
c.1107T>A (p.Asp369Glu)
n.362T>A
n.444T>A
n.317T>A
c.228T>A (p.Asp76Glu)
 dbSNP
6g.33320145T>ACA363655080DAXXc.1367A>T (p.Asp456Val)
c.1331A>T (p.Asp444Val)
c.1106A>T (p.Asp369Val)
n.361A>T
n.443A>T
n.316A>T
c.227A>T (p.Asp76Val)
6g.33320145T>CCA363655076DAXXc.1367A>G (p.Asp456Gly)
c.1331A>G (p.Asp444Gly)
c.1106A>G (p.Asp369Gly)
n.361A>G
n.443A>G
n.316A>G
c.227A>G (p.Asp76Gly)
6g.33320145T>GCA3756565DAXXc.1367A>C (p.Asp456Ala)
c.1331A>C (p.Asp444Ala)
c.1106A>C (p.Asp369Ala)
n.361A>C
n.443A>C
n.316A>C
c.227A>C (p.Asp76Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.33320145T=CA1619962085DAXXc.1367A= (p.Asp456=)
c.1331A= (p.Asp444=)
c.1106A= (p.Asp369=)
n.361A=
n.443A=
n.316A=
c.227A= (p.Asp76=)
6g.33320146C>ACA363655083DAXXc.1366G>T (p.Asp456Tyr)
c.1330G>T (p.Asp444Tyr)
c.1105G>T (p.Asp369Tyr)
n.360G>T
n.442G>T
n.315G>T
c.226G>T (p.Asp76Tyr)
6g.33320146C>GCA363655090DAXXc.1366G>C (p.Asp456His)
c.1330G>C (p.Asp444His)
c.1105G>C (p.Asp369His)
n.360G>C
n.442G>C
n.315G>C
c.226G>C (p.Asp76His)
6g.33320146C>TCA363655087DAXXc.1366G>A (p.Asp456Asn)
c.1330G>A (p.Asp444Asn)
c.1105G>A (p.Asp369Asn)
n.360G>A
n.442G>A
n.315G>A
c.226G>A (p.Asp76Asn)
6g.33320147A=CA1619962086DAXXc.1365T= (p.Ser455=)
c.1329T= (p.Ser443=)
c.1104T= (p.Ser368=)
n.359T=
n.441T=
n.314T=
c.225T= (p.Ser75=)
6g.33320147A>CCA363655093DAXXc.1365T>G (p.Ser455Arg)
c.1329T>G (p.Ser443Arg)
c.1104T>G (p.Ser368Arg)
n.359T>G
n.441T>G
n.314T>G
c.225T>G (p.Ser75Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.33320147A>GCA450110076DAXXc.1365T>C (p.Ser455=)
c.1329T>C (p.Ser443=)
c.1104T>C (p.Ser368=)
n.359T>C
n.441T>C
n.314T>C
c.225T>C (p.Ser75=)
6g.33320147A>TCA363655100DAXXc.1365T>A (p.Ser455Arg)
c.1329T>A (p.Ser443Arg)
c.1104T>A (p.Ser368Arg)
n.359T>A
n.441T>A
n.314T>A
c.225T>A (p.Ser75Arg)
6g.33320148C>ACA363655103DAXXc.1364G>T (p.Ser455Ile)
c.1328G>T (p.Ser443Ile)
c.1103G>T (p.Ser368Ile)
n.358G>T
n.440G>T
n.313G>T
c.224G>T (p.Ser75Ile)
6g.33320148C>GCA363655108DAXXc.1364G>C (p.Ser455Thr)
c.1328G>C (p.Ser443Thr)
c.1103G>C (p.Ser368Thr)
n.358G>C
n.440G>C
n.313G>C
c.224G>C (p.Ser75Thr)
6g.33320148C>TCA363655122DAXXc.1364G>A (p.Ser455Asn)
c.1328G>A (p.Ser443Asn)
c.1103G>A (p.Ser368Asn)
n.358G>A
n.440G>A
n.313G>A
c.224G>A (p.Ser75Asn)
6g.33320149T>ACA363655127DAXXc.1363A>T (p.Ser455Cys)
c.1327A>T (p.Ser443Cys)
c.1102A>T (p.Ser368Cys)
n.357A>T
n.439A>T
n.312A>T
c.223A>T (p.Ser75Cys)
6g.33320149T>CCA363655128DAXXc.1363A>G (p.Ser455Gly)
c.1327A>G (p.Ser443Gly)
c.1102A>G (p.Ser368Gly)
n.357A>G
n.439A>G
n.312A>G
c.223A>G (p.Ser75Gly)
6g.33320149T>GCA363655130DAXXc.1363A>C (p.Ser455Arg)
c.1327A>C (p.Ser443Arg)
c.1102A>C (p.Ser368Arg)
n.357A>C
n.439A>C
n.312A>C
c.223A>C (p.Ser75Arg)
6g.33320149_33320152delinsTCTCCA1619962087DAXXc.1360_1363delinsGAGA (p.Glu454=)
c.1324_1327delinsGAGA (p.Glu442=)
c.1099_1102delinsGAGA (p.Glu367=)
n.354_357delinsGAGA
n.436_439delinsGAGA
n.309_312delinsGAGA
c.220_223delinsGAGA (p.Glu74=)
6g.33320150C>ACA363655150DAXXc.1362G>T (p.Glu454Asp)
c.1326G>T (p.Glu442Asp)
c.1101G>T (p.Glu367Asp)
n.356G>T
n.438G>T
n.311G>T
c.222G>T (p.Glu74Asp)
6g.33320150C>GCA363655152DAXXc.1362G>C (p.Glu454Asp)
c.1326G>C (p.Glu442Asp)
c.1101G>C (p.Glu367Asp)
n.356G>C
n.438G>C
n.311G>C
c.222G>C (p.Glu74Asp)
6g.33320150C>TCA450110077DAXXc.1362G>A (p.Glu454=)
c.1326G>A (p.Glu442=)
c.1101G>A (p.Glu367=)
n.356G>A
n.438G>A
n.311G>A
c.222G>A (p.Glu74=)
6g.33320153_33320155delCA3756566DAXXc.1360_1362del (p.Glu454del)
c.1324_1326del (p.Glu442del)
c.1099_1101del (p.Glu367del)
n.354_356del
n.436_438del
n.309_311del
c.220_222del (p.Glu74del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320151T>ACA363655160DAXXc.1361A>T (p.Glu454Val)
c.1325A>T (p.Glu442Val)
c.1100A>T (p.Glu367Val)
n.355A>T
n.437A>T
n.310A>T
c.221A>T (p.Glu74Val)
6g.33320151T>CCA363655161DAXXc.1361A>G (p.Glu454Gly)
c.1325A>G (p.Glu442Gly)
c.1100A>G (p.Glu367Gly)
n.355A>G
n.437A>G
n.310A>G
c.221A>G (p.Glu74Gly)
6g.33320151T>GCA363655162DAXXc.1361A>C (p.Glu454Ala)
c.1325A>C (p.Glu442Ala)
c.1100A>C (p.Glu367Ala)
n.355A>C
n.437A>C
n.310A>C
c.221A>C (p.Glu74Ala)
6g.33320152C>ACA363655170DAXXc.1360G>T (p.Glu454Ter)
c.1324G>T (p.Glu442Ter)
c.1099G>T (p.Glu367Ter)
n.354G>T
n.436G>T
n.309G>T
c.220G>T (p.Glu74Ter)
6g.33320152C>GCA363655183DAXXc.1360G>C (p.Glu454Gln)
c.1324G>C (p.Glu442Gln)
c.1099G>C (p.Glu367Gln)
n.354G>C
n.436G>C
n.309G>C
c.220G>C (p.Glu74Gln)
6g.33320152C>TCA363655190DAXXc.1360G>A (p.Glu454Lys)
c.1324G>A (p.Glu442Lys)
c.1099G>A (p.Glu367Lys)
n.354G>A
n.436G>A
n.309G>A
c.220G>A (p.Glu74Lys)
 gnomAD v4
6g.33320153C>ACA363655197DAXXc.1359G>T (p.Glu453Asp)
c.1323G>T (p.Glu441Asp)
c.1098G>T (p.Glu366Asp)
n.353G>T
n.435G>T
n.308G>T
c.219G>T (p.Glu73Asp)
6g.33320153C>GCA363655193DAXXc.1359G>C (p.Glu453Asp)
c.1323G>C (p.Glu441Asp)
c.1098G>C (p.Glu366Asp)
n.353G>C
n.435G>C
n.308G>C
c.219G>C (p.Glu73Asp)
6g.33320153C>TCA450110078DAXXc.1359G>A (p.Glu453=)
c.1323G>A (p.Glu441=)
c.1098G>A (p.Glu366=)
n.353G>A
n.435G>A
n.308G>A
c.219G>A (p.Glu73=)
 dbSNP gnomAD v4
6g.33320153_33320156delinsCTCACA1619962088DAXXc.1356_1359delinsTGAG (p.Asp452=)
c.1320_1323delinsTGAG (p.Asp440=)
c.1095_1098delinsTGAG (p.Asp365=)
n.350_353delinsTGAG
n.432_435delinsTGAG
n.305_308delinsTGAG
c.216_219delinsTGAG (p.Asp72=)
6g.33320153_33320165delinsCTCATCGTCTTCGCA1619962089DAXXc.1347_1359delinsCGAAGACGATGAG (p.Asp449=)
c.1311_1323delinsCGAAGACGATGAG (p.Asp437=)
c.1086_1098delinsCGAAGACGATGAG (p.Asp362=)
n.341_353delinsCGAAGACGATGAG
n.423_435delinsCGAAGACGATGAG
n.296_308delinsCGAAGACGATGAG
c.207_219delinsCGAAGACGATGAG (p.Asp69=)
6g.33320154T>ACA363655198DAXXc.1358A>T (p.Glu453Val)
c.1322A>T (p.Glu441Val)
c.1097A>T (p.Glu366Val)
n.352A>T
n.434A>T
n.307A>T
c.218A>T (p.Glu73Val)
6g.33320154T>CCA363655203DAXXc.1358A>G (p.Glu453Gly)
c.1322A>G (p.Glu441Gly)
c.1097A>G (p.Glu366Gly)
n.352A>G
n.434A>G
n.307A>G
c.218A>G (p.Glu73Gly)
6g.33320154T>GCA363655209DAXXc.1358A>C (p.Glu453Ala)
c.1322A>C (p.Glu441Ala)
c.1097A>C (p.Glu366Ala)
n.352A>C
n.434A>C
n.307A>C
c.218A>C (p.Glu73Ala)
6g.33320156_33320158delCA3756567DAXXc.1356_1358del (p.Asp452del)
c.1320_1322del (p.Asp440del)
c.1095_1097del (p.Asp365del)
n.350_352del
n.432_434del
n.305_307del
c.216_218del (p.Asp72del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320159_33320170delCA824027629DAXXc.1347_1358del (p.Asp449_Asp452del)
c.1311_1322del (p.Asp437_Asp440del)
c.1086_1097del (p.Asp362_Asp365del)
n.341_352del
n.423_434del
n.296_307del
c.207_218del (p.Asp69_Asp72del)
 dbSNP
6g.33320155C>ACA363655225DAXXc.1357G>T (p.Glu453Ter)
c.1321G>T (p.Glu441Ter)
c.1096G>T (p.Glu366Ter)
n.351G>T
n.433G>T
n.306G>T
c.217G>T (p.Glu73Ter)
6g.33320155C>GCA363655226DAXXc.1357G>C (p.Glu453Gln)
c.1321G>C (p.Glu441Gln)
c.1096G>C (p.Glu366Gln)
n.351G>C
n.433G>C
n.306G>C
c.217G>C (p.Glu73Gln)
6g.33320155C>TCA363655228DAXXc.1357G>A (p.Glu453Lys)
c.1321G>A (p.Glu441Lys)
c.1096G>A (p.Glu366Lys)
n.351G>A
n.433G>A
n.306G>A
c.217G>A (p.Glu73Lys)
6g.33320156A>CCA363655234DAXXc.1356T>G (p.Asp452Glu)
c.1320T>G (p.Asp440Glu)
c.1095T>G (p.Asp365Glu)
n.350T>G
n.432T>G
n.305T>G
c.216T>G (p.Asp72Glu)
 dbSNP
6g.33320156A>GCA450110079DAXXc.1356T>C (p.Asp452=)
c.1320T>C (p.Asp440=)
c.1095T>C (p.Asp365=)
n.350T>C
n.432T>C
n.305T>C
c.216T>C (p.Asp72=)
6g.33320156A>TCA363655250DAXXc.1356T>A (p.Asp452Glu)
c.1320T>A (p.Asp440Glu)
c.1095T>A (p.Asp365Glu)
n.350T>A
n.432T>A
n.305T>A
c.216T>A (p.Asp72Glu)
6g.33320157T>ACA363655254DAXXc.1355A>T (p.Asp452Val)
c.1319A>T (p.Asp440Val)
c.1094A>T (p.Asp365Val)
n.349A>T
n.431A>T
n.304A>T
c.215A>T (p.Asp72Val)
6g.33320157T>CCA363655261DAXXc.1355A>G (p.Asp452Gly)
c.1319A>G (p.Asp440Gly)
c.1094A>G (p.Asp365Gly)
n.349A>G
n.431A>G
n.304A>G
c.215A>G (p.Asp72Gly)
 dbSNP
6g.33320157T>GCA363655264DAXXc.1355A>C (p.Asp452Ala)
c.1319A>C (p.Asp440Ala)
c.1094A>C (p.Asp365Ala)
n.349A>C
n.431A>C
n.304A>C
c.215A>C (p.Asp72Ala)
6g.33320157T=CA1619962090DAXXc.1355A= (p.Asp452=)
c.1319A= (p.Asp440=)
c.1094A= (p.Asp365=)
n.349A=
n.431A=
n.304A=
c.215A= (p.Asp72=)
6g.33320158C>ACA3756569DAXXc.1354G>T (p.Asp452Tyr)
c.1318G>T (p.Asp440Tyr)
c.1093G>T (p.Asp365Tyr)
n.348G>T
n.430G>T
n.303G>T
c.214G>T (p.Asp72Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320158C=CA1619962091DAXXc.1354G= (p.Asp452=)
c.1318G= (p.Asp440=)
c.1093G= (p.Asp365=)
n.348G=
n.430G=
n.303G=
c.214G= (p.Asp72=)
6g.33320158C>GCA363655275DAXXc.1354G>C (p.Asp452His)
c.1318G>C (p.Asp440His)
c.1093G>C (p.Asp365His)
n.348G>C
n.430G>C
n.303G>C
c.214G>C (p.Asp72His)
6g.33320158C>TCA3756568DAXXc.1354G>A (p.Asp452Asn)
c.1318G>A (p.Asp440Asn)
c.1093G>A (p.Asp365Asn)
n.348G>A
n.430G>A
n.303G>A
c.214G>A (p.Asp72Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.33320159G>ACA3756570DAXXc.1353C>T (p.Asp451=)
c.1317C>T (p.Asp439=)
c.1092C>T (p.Asp364=)
n.347C>T
n.429C>T
n.302C>T
c.213C>T (p.Asp71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320159G>CCA363655295DAXXc.1353C>G (p.Asp451Glu)
c.1317C>G (p.Asp439Glu)
c.1092C>G (p.Asp364Glu)
n.347C>G
n.429C>G
n.302C>G
c.213C>G (p.Asp71Glu)
 dbSNP
6g.33320159G=CA1619962092DAXXc.1353C= (p.Asp451=)
c.1317C= (p.Asp439=)
c.1092C= (p.Asp364=)
n.347C=
n.429C=
n.302C=
c.213C= (p.Asp71=)
6g.33320159G>TCA363655299DAXXc.1353C>A (p.Asp451Glu)
c.1317C>A (p.Asp439Glu)
c.1092C>A (p.Asp364Glu)
n.347C>A
n.429C>A
n.302C>A
c.213C>A (p.Asp71Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33320159_33320162delinsGTCTCA1619962093DAXXc.1350_1353delinsAGAC (p.Glu450=)
c.1314_1317delinsAGAC (p.Glu438=)
c.1089_1092delinsAGAC (p.Glu363=)
n.344_347delinsAGAC
n.426_429delinsAGAC
n.299_302delinsAGAC
c.210_213delinsAGAC (p.Glu70=)
6g.33320160T>ACA363655301DAXXc.1352A>T (p.Asp451Val)
c.1316A>T (p.Asp439Val)
c.1091A>T (p.Asp364Val)
n.346A>T
n.428A>T
n.301A>T
c.212A>T (p.Asp71Val)
6g.33320160T>CCA363655304DAXXc.1352A>G (p.Asp451Gly)
c.1316A>G (p.Asp439Gly)
c.1091A>G (p.Asp364Gly)
n.346A>G
n.428A>G
n.301A>G
c.212A>G (p.Asp71Gly)
6g.33320160T>GCA363655308DAXXc.1352A>C (p.Asp451Ala)
c.1316A>C (p.Asp439Ala)
c.1091A>C (p.Asp364Ala)
n.346A>C
n.428A>C
n.301A>C
c.212A>C (p.Asp71Ala)
6g.33320162_33320164delCA3756571DAXXc.1350_1352del (p.Glu450del)
c.1314_1316del (p.Glu438del)
c.1089_1091del (p.Glu363del)
n.344_346del
n.426_428del
n.299_301del
c.210_212del (p.Glu70del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320161C>ACA363655319DAXXc.1351G>T (p.Asp451Tyr)
c.1315G>T (p.Asp439Tyr)
c.1090G>T (p.Asp364Tyr)
n.345G>T
n.427G>T
n.300G>T
c.211G>T (p.Asp71Tyr)
 COSMIC
6g.33320161C>GCA363655316DAXXc.1351G>C (p.Asp451His)
c.1315G>C (p.Asp439His)
c.1090G>C (p.Asp364His)
n.345G>C
n.427G>C
n.300G>C
c.211G>C (p.Asp71His)
 gnomAD v4
6g.33320161C>TCA363655318DAXXc.1351G>A (p.Asp451Asn)
c.1315G>A (p.Asp439Asn)
c.1090G>A (p.Asp364Asn)
n.345G>A
n.427G>A
n.300G>A
c.211G>A (p.Asp71Asn)
 gnomAD v4
6g.33320162T>ACA363655321DAXXc.1350A>T (p.Glu450Asp)
c.1314A>T (p.Glu438Asp)
c.1089A>T (p.Glu363Asp)
n.344A>T
n.426A>T
n.299A>T
c.210A>T (p.Glu70Asp)
6g.33320162T>CCA450110080DAXXc.1350A>G (p.Glu450=)
c.1314A>G (p.Glu438=)
c.1089A>G (p.Glu363=)
n.344A>G
n.426A>G
n.299A>G
c.210A>G (p.Glu70=)
6g.33320162T>GCA363655327DAXXc.1350A>C (p.Glu450Asp)
c.1314A>C (p.Glu438Asp)
c.1089A>C (p.Glu363Asp)
n.344A>C
n.426A>C
n.299A>C
c.210A>C (p.Glu70Asp)
 gnomAD v4
6g.33320163T>ACA363655330DAXXc.1349A>T (p.Glu450Val)
c.1313A>T (p.Glu438Val)
c.1088A>T (p.Glu363Val)
n.343A>T
n.425A>T
n.298A>T
c.209A>T (p.Glu70Val)
6g.33320163T>CCA3756572DAXXc.1349A>G (p.Glu450Gly)
c.1313A>G (p.Glu438Gly)
c.1088A>G (p.Glu363Gly)
n.343A>G
n.425A>G
n.298A>G
c.209A>G (p.Glu70Gly)
 dbSNP ExAC gnomAD v2
6g.33320163T>GCA363655335DAXXc.1349A>C (p.Glu450Ala)
c.1313A>C (p.Glu438Ala)
c.1088A>C (p.Glu363Ala)
n.343A>C
n.425A>C
n.298A>C
c.209A>C (p.Glu70Ala)
6g.33320163T=CA1619962094DAXXc.1349A= (p.Glu450=)
c.1313A= (p.Glu438=)
c.1088A= (p.Glu363=)
n.343A=
n.425A=
n.298A=
c.209A= (p.Glu70=)
6g.33320164C>ACA363655343DAXXc.1348G>T (p.Glu450Ter)
c.1312G>T (p.Glu438Ter)
c.1087G>T (p.Glu363Ter)
n.342G>T
n.424G>T
n.297G>T
c.208G>T (p.Glu70Ter)
6g.33320164C=CA1619962095DAXXc.1348G= (p.Glu450=)
c.1312G= (p.Glu438=)
c.1087G= (p.Glu363=)
n.342G=
n.424G=
n.297G=
c.208G= (p.Glu70=)
6g.33320164C>GCA363655346DAXXc.1348G>C (p.Glu450Gln)
c.1312G>C (p.Glu438Gln)
c.1087G>C (p.Glu363Gln)
n.342G>C
n.424G>C
n.297G>C
c.208G>C (p.Glu70Gln)
 dbSNP
6g.33320164C>TCA3756573DAXXc.1348G>A (p.Glu450Lys)
c.1312G>A (p.Glu438Lys)
c.1087G>A (p.Glu363Lys)
n.342G>A
n.424G>A
n.297G>A
c.208G>A (p.Glu70Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320165G>ACA137060530DAXXc.1347C>T (p.Asp449=)
c.1311C>T (p.Asp437=)
c.1086C>T (p.Asp362=)
n.341C>T
n.423C>T
n.296C>T
c.207C>T (p.Asp69=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.33320165G>CCA363655365DAXXc.1347C>G (p.Asp449Glu)
c.1311C>G (p.Asp437Glu)
c.1086C>G (p.Asp362Glu)
n.341C>G
n.423C>G
n.296C>G
c.207C>G (p.Asp69Glu)
 dbSNP gnomAD v4
6g.33320165G=CA1619962096DAXXc.1347C= (p.Asp449=)
c.1311C= (p.Asp437=)
c.1086C= (p.Asp362=)
n.341C=
n.423C=
n.296C=
c.207C= (p.Asp69=)
6g.33320165G>TCA363655383DAXXc.1347C>A (p.Asp449Glu)
c.1311C>A (p.Asp437Glu)
c.1086C>A (p.Asp362Glu)
n.341C>A
n.423C>A
n.296C>A
c.207C>A (p.Asp69Glu)
6g.33320166T>ACA363655388DAXXc.1346A>T (p.Asp449Val)
c.1310A>T (p.Asp437Val)
c.1085A>T (p.Asp362Val)
n.340A>T
n.422A>T
n.295A>T
c.206A>T (p.Asp69Val)
6g.33320166T>CCA363655398DAXXc.1346A>G (p.Asp449Gly)
c.1310A>G (p.Asp437Gly)
c.1085A>G (p.Asp362Gly)
n.340A>G
n.422A>G
n.295A>G
c.206A>G (p.Asp69Gly)
6g.33320166T>GCA363655397DAXXc.1346A>C (p.Asp449Ala)
c.1310A>C (p.Asp437Ala)
c.1085A>C (p.Asp362Ala)
n.340A>C
n.422A>C
n.295A>C
c.206A>C (p.Asp69Ala)
6g.33320167C>ACA363655399DAXXc.1345G>T (p.Asp449Tyr)
c.1309G>T (p.Asp437Tyr)
c.1084G>T (p.Asp362Tyr)
n.339G>T
n.421G>T
n.294G>T
c.205G>T (p.Asp69Tyr)
6g.33320167C>GCA363655407DAXXc.1345G>C (p.Asp449His)
c.1309G>C (p.Asp437His)
c.1084G>C (p.Asp362His)
n.339G>C
n.421G>C
n.294G>C
c.205G>C (p.Asp69His)
6g.33320167C>TCA363655402DAXXc.1345G>A (p.Asp449Asn)
c.1309G>A (p.Asp437Asn)
c.1084G>A (p.Asp362Asn)
n.339G>A
n.421G>A
n.294G>A
c.205G>A (p.Asp69Asn)
6g.33320168A>CCA363655408DAXXc.1344T>G (p.Asp448Glu)
c.1308T>G (p.Asp436Glu)
c.1083T>G (p.Asp361Glu)
n.338T>G
n.420T>G
n.293T>G
c.204T>G (p.Asp68Glu)
6g.33320168A>GCA450110081DAXXc.1344T>C (p.Asp448=)
c.1308T>C (p.Asp436=)
c.1083T>C (p.Asp361=)
n.338T>C
n.420T>C
n.293T>C
c.204T>C (p.Asp68=)
6g.33320168A>TCA363655409DAXXc.1344T>A (p.Asp448Glu)
c.1308T>A (p.Asp436Glu)
c.1083T>A (p.Asp361Glu)
n.338T>A
n.420T>A
n.293T>A
c.204T>A (p.Asp68Glu)
6g.33320169T>ACA363655410DAXXc.1343A>T (p.Asp448Val)
c.1307A>T (p.Asp436Val)
c.1082A>T (p.Asp361Val)
n.337A>T
n.419A>T
n.292A>T
c.203A>T (p.Asp68Val)
6g.33320169T>CCA3756574DAXXc.1343A>G (p.Asp448Gly)
c.1307A>G (p.Asp436Gly)
c.1082A>G (p.Asp361Gly)
n.337A>G
n.419A>G
n.292A>G
c.203A>G (p.Asp68Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33320169T>GCA363655413DAXXc.1343A>C (p.Asp448Ala)
c.1307A>C (p.Asp436Ala)
c.1082A>C (p.Asp361Ala)
n.337A>C
n.419A>C
n.292A>C
c.203A>C (p.Asp68Ala)
6g.33320169T=CA1619962097DAXXc.1343A= (p.Asp448=)
c.1307A= (p.Asp436=)
c.1082A= (p.Asp361=)
n.337A=
n.419A=
n.292A=
c.203A= (p.Asp68=)
6g.33320170_33320171delCA645558803DAXXc.1342_1343del (p.Asp448Ter)
c.1306_1307del (p.Asp436Ter)
c.1081_1082del (p.Asp361Ter)
n.336_337del
n.418_419del
n.291_292del
c.202_203del (p.Asp68Ter)
 COSMIC
6g.33320170C>ACA363655419DAXXc.1342G>T (p.Asp448Tyr)
c.1306G>T (p.Asp436Tyr)
c.1081G>T (p.Asp361Tyr)
n.336G>T
n.418G>T
n.291G>T
c.202G>T (p.Asp68Tyr)
6g.33320170C>GCA363655439DAXXc.1342G>C (p.Asp448His)
c.1306G>C (p.Asp436His)
c.1081G>C (p.Asp361His)
n.336G>C
n.418G>C
n.291G>C
c.202G>C (p.Asp68His)
6g.33320170C>TCA363655445DAXXc.1342G>A (p.Asp448Asn)
c.1306G>A (p.Asp436Asn)
c.1081G>A (p.Asp361Asn)
n.336G>A
n.418G>A
n.291G>A
c.202G>A (p.Asp68Asn)
 dbSNP gnomAD v4
6g.33320171T>ACA450110084DAXXc.1341A>T (p.Thr447=)
c.1305A>T (p.Thr435=)
c.1080A>T (p.Thr360=)
n.335A>T
n.417A>T
n.290A>T
c.201A>T (p.Thr67=)
6g.33320171T>CCA450110083DAXXc.1341A>G (p.Thr447=)
c.1305A>G (p.Thr435=)
c.1080A>G (p.Thr360=)
n.335A>G
n.417A>G
n.290A>G
c.201A>G (p.Thr67=)
 gnomAD v4
6g.33320171T>GCA450110082DAXXc.1341A>C (p.Thr447=)
c.1305A>C (p.Thr435=)
c.1080A>C (p.Thr360=)
n.335A>C
n.417A>C
n.290A>C
c.201A>C (p.Thr67=)
6g.33320172G>ACA363655447DAXXc.1340C>T (p.Thr447Ile)
c.1304C>T (p.Thr435Ile)
c.1079C>T (p.Thr360Ile)
n.334C>T
n.416C>T
n.289C>T
c.200C>T (p.Thr67Ile)
 dbSNP
6g.33320172G>CCA363655457DAXXc.1340C>G (p.Thr447Arg)
c.1304C>G (p.Thr435Arg)
c.1079C>G (p.Thr360Arg)
n.334C>G
n.416C>G
n.289C>G
c.200C>G (p.Thr67Arg)
6g.33320172G>TCA363655468DAXXc.1340C>A (p.Thr447Lys)
c.1304C>A (p.Thr435Lys)
c.1079C>A (p.Thr360Lys)
n.334C>A
n.416C>A
n.289C>A
c.200C>A (p.Thr67Lys)
6g.33320173T>ACA363655506DAXXc.1339A>T (p.Thr447Ser)
c.1303A>T (p.Thr435Ser)
c.1078A>T (p.Thr360Ser)
n.333A>T
n.415A>T
n.288A>T
c.199A>T (p.Thr67Ser)
6g.33320173T>CCA363655485DAXXc.1339A>G (p.Thr447Ala)
c.1303A>G (p.Thr435Ala)
c.1078A>G (p.Thr360Ala)
n.333A>G
n.415A>G
n.288A>G
c.199A>G (p.Thr67Ala)
6g.33320173T>GCA363655476DAXXc.1339A>C (p.Thr447Pro)
c.1303A>C (p.Thr435Pro)
c.1078A>C (p.Thr360Pro)
n.333A>C
n.415A>C
n.288A>C
c.199A>C (p.Thr67Pro)
6g.33320174C>ACA363655510DAXXc.1338G>T (p.Glu446Asp)
c.1302G>T (p.Glu434Asp)
c.1077G>T (p.Glu359Asp)
n.332G>T
n.414G>T
n.287G>T
c.198G>T (p.Glu66Asp)
6g.33320174C>GCA363655511DAXXc.1338G>C (p.Glu446Asp)
c.1302G>C (p.Glu434Asp)
c.1077G>C (p.Glu359Asp)
n.332G>C
n.414G>C
n.287G>C
c.198G>C (p.Glu66Asp)
6g.33320174C>TCA450110085DAXXc.1338G>A (p.Glu446=)
c.1302G>A (p.Glu434=)
c.1077G>A (p.Glu359=)
n.332G>A
n.414G>A
n.287G>A
c.198G>A (p.Glu66=)
 gnomAD v4
6g.33320175T>ACA363655522DAXXc.1337A>T (p.Glu446Val)
c.1301A>T (p.Glu434Val)
c.1076A>T (p.Glu359Val)
n.331A>T
n.413A>T
n.286A>T
c.197A>T (p.Glu66Val)
6g.33320175T>CCA363655527DAXXc.1337A>G (p.Glu446Gly)
c.1301A>G (p.Glu434Gly)
c.1076A>G (p.Glu359Gly)
n.331A>G
n.413A>G
n.286A>G
c.197A>G (p.Glu66Gly)
6g.33320175T>GCA363655534DAXXc.1337A>C (p.Glu446Ala)
c.1301A>C (p.Glu434Ala)
c.1076A>C (p.Glu359Ala)
n.331A>C
n.413A>C
n.286A>C
c.197A>C (p.Glu66Ala)
6g.33320176C>ACA363655536DAXXc.1336G>T (p.Glu446Ter)
c.1300G>T (p.Glu434Ter)
c.1075G>T (p.Glu359Ter)
n.330G>T
n.412G>T
n.285G>T
c.196G>T (p.Glu66Ter)
6g.33320176C>GCA363655539DAXXc.1336G>C (p.Glu446Gln)
c.1300G>C (p.Glu434Gln)
c.1075G>C (p.Glu359Gln)
n.330G>C
n.412G>C
n.285G>C
c.196G>C (p.Glu66Gln)
6g.33320176C>TCA363655544DAXXc.1336G>A (p.Glu446Lys)
c.1300G>A (p.Glu434Lys)
c.1075G>A (p.Glu359Lys)
n.330G>A
n.412G>A
n.285G>A
c.196G>A (p.Glu66Lys)
6g.33320177A>CCA450110086DAXXc.1335T>G (p.Ala445=)
c.1299T>G (p.Ala433=)
c.1074T>G (p.Ala358=)
n.329T>G
n.411T>G
n.284T>G
c.195T>G (p.Ala65=)
6g.33320177A>GCA450110087DAXXc.1335T>C (p.Ala445=)
c.1299T>C (p.Ala433=)
c.1074T>C (p.Ala358=)
n.329T>C
n.411T>C
n.284T>C
c.195T>C (p.Ala65=)
6g.33320177A>TCA450110088DAXXc.1335T>A (p.Ala445=)
c.1299T>A (p.Ala433=)
c.1074T>A (p.Ala358=)
n.329T>A
n.411T>A
n.284T>A
c.195T>A (p.Ala65=)
6g.33320178G>ACA363655554DAXXc.1334C>T (p.Ala445Val)
c.1298C>T (p.Ala433Val)
c.1073C>T (p.Ala358Val)
n.328C>T
n.410C>T
n.283C>T
c.194C>T (p.Ala65Val)
 dbSNP
6g.33320178G>CCA363655559DAXXc.1334C>G (p.Ala445Gly)
c.1298C>G (p.Ala433Gly)
c.1073C>G (p.Ala358Gly)
n.328C>G
n.410C>G
n.283C>G
c.194C>G (p.Ala65Gly)
 dbSNP
6g.33320178G>TCA363655560DAXXc.1334C>A (p.Ala445Asp)
c.1298C>A (p.Ala433Asp)
c.1073C>A (p.Ala358Asp)
n.328C>A
n.410C>A
n.283C>A
c.194C>A (p.Ala65Asp)
6g.33320179C>ACA363655567DAXXc.1333G>T (p.Ala445Ser)
c.1297G>T (p.Ala433Ser)
c.1072G>T (p.Ala358Ser)
n.327G>T
n.409G>T
n.282G>T
c.193G>T (p.Ala65Ser)
6g.33320179C>GCA363655566DAXXc.1333G>C (p.Ala445Pro)
c.1297G>C (p.Ala433Pro)
c.1072G>C (p.Ala358Pro)
n.327G>C
n.409G>C
n.282G>C
c.193G>C (p.Ala65Pro)
6g.33320179C>TCA363655565DAXXc.1333G>A (p.Ala445Thr)
c.1297G>A (p.Ala433Thr)
c.1072G>A (p.Ala358Thr)
n.327G>A
n.409G>A
n.282G>A
c.193G>A (p.Ala65Thr)
6g.33320180T>ACA363655568DAXXc.1332A>T (p.Arg444Ser)
c.1296A>T (p.Arg432Ser)
c.1071A>T (p.Arg357Ser)
n.326A>T
n.408A>T
n.281A>T
c.192A>T (p.Arg64Ser)
6g.33320180T>CCA450110089DAXXc.1332A>G (p.Arg444=)
c.1296A>G (p.Arg432=)
c.1071A>G (p.Arg357=)
n.326A>G
n.408A>G
n.281A>G
c.192A>G (p.Arg64=)
 dbSNP gnomAD v2 gnomAD v4
6g.33320180T>GCA363655570DAXXc.1332A>C (p.Arg444Ser)
c.1296A>C (p.Arg432Ser)
c.1071A>C (p.Arg357Ser)
n.326A>C
n.408A>C
n.281A>C
c.192A>C (p.Arg64Ser)
6g.33320180T=CA1619962098DAXXc.1332A= (p.Arg444=)
c.1296A= (p.Arg432=)
c.1071A= (p.Arg357=)
n.326A=
n.408A=
n.281A=
c.192A= (p.Arg64=)
6g.33320181C>ACA363655571DAXXc.1331G>T (p.Arg444Ile)
c.1295G>T (p.Arg432Ile)
c.1070G>T (p.Arg357Ile)
n.325G>T
n.407G>T
n.280G>T
c.191G>T (p.Arg64Ile)
6g.33320181C>GCA363655573DAXXc.1331G>C (p.Arg444Thr)
c.1295G>C (p.Arg432Thr)
c.1070G>C (p.Arg357Thr)
n.325G>C
n.407G>C
n.280G>C
c.191G>C (p.Arg64Thr)
6g.33320181C>TCA363655578DAXXc.1331G>A (p.Arg444Lys)
c.1295G>A (p.Arg432Lys)
c.1070G>A (p.Arg357Lys)
n.325G>A
n.407G>A
n.280G>A
c.191G>A (p.Arg64Lys)
6g.33320182T>ACA363655581DAXXc.1330A>T (p.Arg444Ter)
c.1294A>T (p.Arg432Ter)
c.1069A>T (p.Arg357Ter)
n.324A>T
n.406A>T
n.279A>T
c.190A>T (p.Arg64Ter)
6g.33320182T>CCA363655584DAXXc.1330A>G (p.Arg444Gly)
c.1294A>G (p.Arg432Gly)
c.1069A>G (p.Arg357Gly)
n.324A>G
n.406A>G
n.279A>G
c.190A>G (p.Arg64Gly)
 gnomAD v4
6g.33320182T>GCA450110090DAXXc.1330A>C (p.Arg444=)
c.1294A>C (p.Arg432=)
c.1069A>C (p.Arg357=)
n.324A>C
n.406A>C
n.279A>C
c.190A>C (p.Arg64=)
6g.33320183G>ACA450110091DAXXc.1329C>T (p.Ser443=)
c.1293C>T (p.Ser431=)
c.1068C>T (p.Ser356=)
n.323C>T
n.405C>T
n.278C>T
c.189C>T (p.Ser63=)
6g.33320183G>CCA450110092DAXXc.1329C>G (p.Ser443=)
c.1293C>G (p.Ser431=)
c.1068C>G (p.Ser356=)
n.323C>G
n.405C>G
n.278C>G
c.189C>G (p.Ser63=)
6g.33320183G>TCA450110093DAXXc.1329C>A (p.Ser443=)
c.1293C>A (p.Ser431=)
c.1068C>A (p.Ser356=)
n.323C>A
n.405C>A
n.278C>A
c.189C>A (p.Ser63=)
6g.33320184G>ACA363655586DAXXc.1328C>T (p.Ser443Phe)
c.1292C>T (p.Ser431Phe)
c.1067C>T (p.Ser356Phe)
n.322C>T
n.404C>T
n.277C>T
c.188C>T (p.Ser63Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.33320184G>CCA363655589DAXXc.1328C>G (p.Ser443Cys)
c.1292C>G (p.Ser431Cys)
c.1067C>G (p.Ser356Cys)
n.322C>G
n.404C>G
n.277C>G
c.188C>G (p.Ser63Cys)
6g.33320184G=CA1619962099DAXXc.1328C= (p.Ser443=)
c.1292C= (p.Ser431=)
c.1067C= (p.Ser356=)
n.322C=
n.404C=
n.277C=
c.188C= (p.Ser63=)
6g.33320184G>TCA363655593DAXXc.1328C>A (p.Ser443Tyr)
c.1292C>A (p.Ser431Tyr)
c.1067C>A (p.Ser356Tyr)
n.322C>A
n.404C>A
n.277C>A
c.188C>A (p.Ser63Tyr)
 gnomAD v4
6g.33320185A>CCA363655597DAXXc.1327T>G (p.Ser443Ala)
c.1291T>G (p.Ser431Ala)
c.1066T>G (p.Ser356Ala)
n.321T>G
n.403T>G
n.276T>G
c.187T>G (p.Ser63Ala)
6g.33320185A>GCA363655603DAXXc.1327T>C (p.Ser443Pro)
c.1291T>C (p.Ser431Pro)
c.1066T>C (p.Ser356Pro)
n.321T>C
n.403T>C
n.276T>C
c.187T>C (p.Ser63Pro)
6g.33320185A>TCA363655608DAXXc.1327T>A (p.Ser443Thr)
c.1291T>A (p.Ser431Thr)
c.1066T>A (p.Ser356Thr)
n.321T>A
n.403T>A
n.276T>A
c.187T>A (p.Ser63Thr)
6g.33320186G>ACA450110096DAXXc.1326C>T (p.Ala442=)
c.1290C>T (p.Ala430=)
c.1065C>T (p.Ala355=)
n.320C>T
n.402C>T
n.275C>T
c.186C>T (p.Ala62=)
 dbSNP gnomAD v2 gnomAD v4
6g.33320186G>CCA450110095DAXXc.1326C>G (p.Ala442=)
c.1290C>G (p.Ala430=)
c.1065C>G (p.Ala355=)
n.320C>G
n.402C>G
n.275C>G
c.186C>G (p.Ala62=)
6g.33320186G=CA1619962100DAXXc.1326C= (p.Ala442=)
c.1290C= (p.Ala430=)
c.1065C= (p.Ala355=)
n.320C=
n.402C=
n.275C=
c.186C= (p.Ala62=)
6g.33320186G>TCA450110094DAXXc.1326C>A (p.Ala442=)
c.1290C>A (p.Ala430=)
c.1065C>A (p.Ala355=)
n.320C>A
n.402C>A
n.275C>A
c.186C>A (p.Ala62=)
6g.33320187G>ACA363655614DAXXc.1325C>T (p.Ala442Val)
c.1289C>T (p.Ala430Val)
c.1064C>T (p.Ala355Val)
n.319C>T
n.401C>T
n.274C>T
c.185C>T (p.Ala62Val)
 dbSNP gnomAD v4
6g.33320187G>CCA363655612DAXXc.1325C>G (p.Ala442Gly)
c.1289C>G (p.Ala430Gly)
c.1064C>G (p.Ala355Gly)
n.319C>G
n.401C>G
n.274C>G
c.185C>G (p.Ala62Gly)
6g.33320187G>TCA363655613DAXXc.1325C>A (p.Ala442Asp)
c.1289C>A (p.Ala430Asp)
c.1064C>A (p.Ala355Asp)
n.319C>A
n.401C>A
n.274C>A
c.185C>A (p.Ala62Asp)
6g.33320188C>ACA363655615DAXXc.1324G>T (p.Ala442Ser)
c.1288G>T (p.Ala430Ser)
c.1063G>T (p.Ala355Ser)
n.318G>T
n.400G>T
n.273G>T
c.184G>T (p.Ala62Ser)
6g.33320188C>GCA363655616DAXXc.1324G>C (p.Ala442Pro)
c.1288G>C (p.Ala430Pro)
c.1063G>C (p.Ala355Pro)
n.318G>C
n.400G>C
n.273G>C
c.184G>C (p.Ala62Pro)
 dbSNP
6g.33320188C>TCA363655618DAXXc.1324G>A (p.Ala442Thr)
c.1288G>A (p.Ala430Thr)
c.1063G>A (p.Ala355Thr)
n.318G>A
n.400G>A
n.273G>A
c.184G>A (p.Ala62Thr)
 gnomAD v4
6g.33320189A>CCA450110097DAXXc.1323T>G (p.Ser441=)
c.1287T>G (p.Ser429=)
c.1062T>G (p.Ser354=)
n.317T>G
n.399T>G
n.272T>G
c.183T>G (p.Ser61=)
6g.33320189A>GCA450110098DAXXc.1323T>C (p.Ser441=)
c.1287T>C (p.Ser429=)
c.1062T>C (p.Ser354=)
n.317T>C
n.399T>C
n.272T>C
c.183T>C (p.Ser61=)
 gnomAD v4
6g.33320189A>TCA450110099DAXXc.1323T>A (p.Ser441=)
c.1287T>A (p.Ser429=)
c.1062T>A (p.Ser354=)
n.317T>A
n.399T>A
n.272T>A
c.183T>A (p.Ser61=)
6g.33320190G>ACA363655623DAXXc.1322C>T (p.Ser441Phe)
c.1286C>T (p.Ser429Phe)
c.1061C>T (p.Ser354Phe)
n.316C>T
n.398C>T
n.271C>T
c.182C>T (p.Ser61Phe)
 COSMIC
6g.33320190G>CCA363655624DAXXc.1322C>G (p.Ser441Cys)
c.1286C>G (p.Ser429Cys)
c.1061C>G (p.Ser354Cys)
n.316C>G
n.398C>G
n.271C>G
c.182C>G (p.Ser61Cys)
6g.33320190G=CA1619962101DAXXc.1322C= (p.Ser441=)
c.1286C= (p.Ser429=)
c.1061C= (p.Ser354=)
n.316C=
n.398C=
n.271C=
c.182C= (p.Ser61=)
6g.33320190G>TCA363655625DAXXc.1322C>A (p.Ser441Tyr)
c.1286C>A (p.Ser429Tyr)
c.1061C>A (p.Ser354Tyr)
n.316C>A
n.398C>A
n.271C>A
c.182C>A (p.Ser61Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.33320191A>CCA363655626DAXXc.1321T>G (p.Ser441Ala)
c.1285T>G (p.Ser429Ala)
c.1060T>G (p.Ser354Ala)
n.315T>G
n.397T>G
n.270T>G
c.181T>G (p.Ser61Ala)
6g.33320191A>GCA363655627DAXXc.1321T>C (p.Ser441Pro)
c.1285T>C (p.Ser429Pro)
c.1060T>C (p.Ser354Pro)
n.315T>C
n.397T>C
n.270T>C
c.181T>C (p.Ser61Pro)
6g.33320191A>TCA363655628DAXXc.1321T>A (p.Ser441Thr)
c.1285T>A (p.Ser429Thr)
c.1060T>A (p.Ser354Thr)
n.315T>A
n.397T>A
n.270T>A
c.181T>A (p.Ser61Thr)
6g.33320192A=CA1619962102DAXXc.1320T= (p.Pro440=)
c.1284T= (p.Pro428=)
c.1059T= (p.Pro353=)
n.314T=
n.396T=
n.269T=
c.180T= (p.Pro60=)
6g.33320192A>CCA450110100DAXXc.1320T>G (p.Pro440=)
c.1284T>G (p.Pro428=)
c.1059T>G (p.Pro353=)
n.314T>G
n.396T>G
n.269T>G
c.180T>G (p.Pro60=)
6g.33320192A>GCA450110101DAXXc.1320T>C (p.Pro440=)
c.1284T>C (p.Pro428=)
c.1059T>C (p.Pro353=)
n.314T>C
n.396T>C
n.269T>C
c.180T>C (p.Pro60=)
 dbSNP gnomAD v2 gnomAD v4
6g.33320192A>TCA450110102DAXXc.1320T>A (p.Pro440=)
c.1284T>A (p.Pro428=)
c.1059T>A (p.Pro353=)
n.314T>A
n.396T>A
n.269T>A
c.180T>A (p.Pro60=)
6g.33320193G>ACA363655629DAXXc.1319C>T (p.Pro440Leu)
c.1283C>T (p.Pro428Leu)
c.1058C>T (p.Pro353Leu)
n.313C>T
n.395C>T
n.268C>T
c.179C>T (p.Pro60Leu)
6g.33320193G>CCA363655630DAXXc.1319C>G (p.Pro440Arg)
c.1283C>G (p.Pro428Arg)
c.1058C>G (p.Pro353Arg)
n.313C>G
n.395C>G
n.268C>G
c.179C>G (p.Pro60Arg)
6g.33320193G>TCA363655637DAXXc.1319C>A (p.Pro440His)
c.1283C>A (p.Pro428His)
c.1058C>A (p.Pro353His)
n.313C>A
n.395C>A
n.268C>A
c.179C>A (p.Pro60His)
6g.33320194G>ACA363655643DAXXc.1318C>T (p.Pro440Ser)
c.1282C>T (p.Pro428Ser)
c.1057C>T (p.Pro353Ser)
n.312C>T
n.394C>T
n.267C>T
c.178C>T (p.Pro60Ser)
 gnomAD v4
6g.33320194G>CCA363655646DAXXc.1318C>G (p.Pro440Ala)
c.1282C>G (p.Pro428Ala)
c.1057C>G (p.Pro353Ala)
n.312C>G
n.394C>G
n.267C>G
c.178C>G (p.Pro60Ala)
6g.33320194G>TCA363655642DAXXc.1318C>A (p.Pro440Thr)
c.1282C>A (p.Pro428Thr)
c.1057C>A (p.Pro353Thr)
n.312C>A
n.394C>A
n.267C>A
c.178C>A (p.Pro60Thr)
6g.33320195G>ACA450110103DAXXc.1317C>T (p.Cys439=)
c.1281C>T (p.Cys427=)
c.1056C>T (p.Cys352=)
n.311C>T
n.393C>T
n.266C>T
c.177C>T (p.Cys59=)
 dbSNP
6g.33320195G>CCA363655653DAXXc.1317C>G (p.Cys439Trp)
c.1281C>G (p.Cys427Trp)
c.1056C>G (p.Cys352Trp)
n.311C>G
n.393C>G
n.266C>G
c.177C>G (p.Cys59Trp)
6g.33320195G=CA1619962103DAXXc.1317C= (p.Cys439=)
c.1281C= (p.Cys427=)
c.1056C= (p.Cys352=)
n.311C=
n.393C=
n.266C=
c.177C= (p.Cys59=)
6g.33320195G>TCA363655648DAXXc.1317C>A (p.Cys439Ter)
c.1281C>A (p.Cys427Ter)
c.1056C>A (p.Cys352Ter)
n.311C>A
n.393C>A
n.266C>A
c.177C>A (p.Cys59Ter)
6g.33320196C>ACA363655664DAXXc.1316G>T (p.Cys439Phe)
c.1280G>T (p.Cys427Phe)
c.1055G>T (p.Cys352Phe)
n.310G>T
n.392G>T
n.265G>T
c.176G>T (p.Cys59Phe)
6g.33320196C=CA1619962104DAXXc.1316G= (p.Cys439=)
c.1280G= (p.Cys427=)
c.1055G= (p.Cys352=)
n.310G=
n.392G=
n.265G=
c.176G= (p.Cys59=)
6g.33320196C>GCA363655659DAXXc.1316G>C (p.Cys439Ser)
c.1280G>C (p.Cys427Ser)
c.1055G>C (p.Cys352Ser)
n.310G>C
n.392G>C
n.265G>C
c.176G>C (p.Cys59Ser)
 dbSNP
6g.33320196C>TCA363655661DAXXc.1316G>A (p.Cys439Tyr)
c.1280G>A (p.Cys427Tyr)
c.1055G>A (p.Cys352Tyr)
n.310G>A
n.392G>A
n.265G>A
c.176G>A (p.Cys59Tyr)
 dbSNP
6g.33320197A>CCA363655672DAXXc.1315T>G (p.Cys439Gly)
c.1279T>G (p.Cys427Gly)
c.1054T>G (p.Cys352Gly)
n.309T>G
n.391T>G
n.264T>G
c.175T>G (p.Cys59Gly)
6g.33320197A>GCA363655681DAXXc.1315T>C (p.Cys439Arg)
c.1279T>C (p.Cys427Arg)
c.1054T>C (p.Cys352Arg)
n.309T>C
n.391T>C
n.264T>C
c.175T>C (p.Cys59Arg)
6g.33320197A>TCA363655685DAXXc.1315T>A (p.Cys439Ser)
c.1279T>A (p.Cys427Ser)
c.1054T>A (p.Cys352Ser)
n.309T>A
n.391T>A
n.264T>A
c.175T>A (p.Cys59Ser)
6g.33320198C>ACA450110104DAXXc.1314G>T (p.Gly438=)
c.1278G>T (p.Gly426=)
c.1053G>T (p.Gly351=)
n.308G>T
n.390G>T
n.263G>T
c.174G>T (p.Gly58=)
6g.33320198C>GCA450110105DAXXc.1314G>C (p.Gly438=)
c.1278G>C (p.Gly426=)
c.1053G>C (p.Gly351=)
n.308G>C
n.390G>C
n.263G>C
c.174G>C (p.Gly58=)
6g.33320198C>TCA450110106DAXXc.1314G>A (p.Gly438=)
c.1278G>A (p.Gly426=)
c.1053G>A (p.Gly351=)
n.308G>A
n.390G>A
n.263G>A
c.174G>A (p.Gly58=)
 dbSNP
6g.33320199C>ACA363655690DAXXc.1313G>T (p.Gly438Val)
c.1277G>T (p.Gly426Val)
c.1052G>T (p.Gly351Val)
n.307G>T
n.389G>T
n.262G>T
c.173G>T (p.Gly58Val)
6g.33320199C>GCA363655697DAXXc.1313G>C (p.Gly438Ala)
c.1277G>C (p.Gly426Ala)
c.1052G>C (p.Gly351Ala)
n.307G>C
n.389G>C
n.262G>C
c.173G>C (p.Gly58Ala)
6g.33320199C>TCA363655701DAXXc.1313G>A (p.Gly438Glu)
c.1277G>A (p.Gly426Glu)
c.1052G>A (p.Gly351Glu)
n.307G>A
n.389G>A
n.262G>A
c.173G>A (p.Gly58Glu)
6g.33320200C>ACA363655731DAXXc.1312G>T (p.Gly438Trp)
c.1276G>T (p.Gly426Trp)
c.1051G>T (p.Gly351Trp)
n.306G>T
n.388G>T
n.261G>T
c.172G>T (p.Gly58Trp)
6g.33320200C>GCA363655739DAXXc.1312G>C (p.Gly438Arg)
c.1276G>C (p.Gly426Arg)
c.1051G>C (p.Gly351Arg)
n.306G>C
n.388G>C
n.261G>C
c.172G>C (p.Gly58Arg)
6g.33320200C>TCA363655744DAXXc.1312G>A (p.Gly438Arg)
c.1276G>A (p.Gly426Arg)
c.1051G>A (p.Gly351Arg)
n.306G>A
n.388G>A
n.261G>A
c.172G>A (p.Gly58Arg)

Number of alleles fetched