Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127663226_127663229delCA2580616306STXBP1c.409_412del (p.Asp137LeufsTer13)
c.451_454del (p.Asp151LeufsTer13)
c.*93_*96del (n.*93_*96del)
c.*1315_*1318del (n.*1315_*1318del)
c.393_396del
c.95_98del
c.409_412del (p.Asp137LeufsTer?)
n.287_290del
c.442_445del (p.Asp148LeufsTer13)
 ClinVar
9g.127663227A>CCA374932920STXBP1c.410A>C (p.Asp137Ala)
c.452A>C (p.Asp151Ala)
c.*94A>C (n.*94A>C)
c.*1316A>C (n.*1316A>C)
c.394A>C
c.96A>C
n.288A>C
c.443A>C (p.Asp148Ala)
9g.127663227A>GCA374932922STXBP1c.410A>G (p.Asp137Gly)
c.452A>G (p.Asp151Gly)
c.*94A>G (n.*94A>G)
c.*1316A>G (n.*1316A>G)
c.394A>G
c.96A>G
n.288A>G
c.443A>G (p.Asp148Gly)
9g.127663227A>TCA374932921STXBP1c.410A>T (p.Asp137Val)
c.452A>T (p.Asp151Val)
c.*94A>T (n.*94A>T)
c.*1316A>T (n.*1316A>T)
c.394A>T
c.96A>T
n.288A>T
c.443A>T (p.Asp148Val)
9g.127663228C>ACA374932923STXBP1c.411C>A (p.Asp137Glu)
c.453C>A (p.Asp151Glu)
c.*95C>A (n.*95C>A)
c.*1317C>A (n.*1317C>A)
c.395C>A
c.97C>A
n.289C>A
c.444C>A (p.Asp148Glu)
9g.127663228C=CA1879908319STXBP1c.411C= (p.Asp137=)
c.453C= (p.Asp151=)
c.*95C= (n.*95C=)
c.*1317C= (n.*1317C=)
c.395C=
c.97C=
n.289C=
c.444C= (p.Asp148=)
9g.127663228C>GCA374932924STXBP1c.411C>G (p.Asp137Glu)
c.453C>G (p.Asp151Glu)
c.*95C>G (n.*95C>G)
c.*1317C>G (n.*1317C>G)
c.395C>G
c.97C>G
n.289C>G
c.444C>G (p.Asp148Glu)
9g.127663228C>TCA467222640STXBP1c.411C>T (p.Asp137=)
c.453C>T (p.Asp151=)
c.*95C>T (n.*95C>T)
c.*1317C>T (n.*1317C>T)
c.395C>T
c.97C>T
n.289C>T
c.444C>T (p.Asp148=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127663229T>ACA374932925STXBP1c.412T>A (p.Ser138Thr)
c.454T>A (p.Ser152Thr)
c.*96T>A (n.*96T>A)
c.*1318T>A (n.*1318T>A)
c.396T>A
c.98T>A
n.290T>A
c.445T>A (p.Ser149Thr)
9g.127663229T>CCA374932926STXBP1c.412T>C (p.Ser138Pro)
c.454T>C (p.Ser152Pro)
c.*96T>C (n.*96T>C)
c.*1318T>C (n.*1318T>C)
c.396T>C
c.98T>C
n.290T>C
c.445T>C (p.Ser149Pro)
9g.127663229T>GCA374932927STXBP1c.412T>G (p.Ser138Ala)
c.454T>G (p.Ser152Ala)
c.*96T>G (n.*96T>G)
c.*1318T>G (n.*1318T>G)
c.396T>G
c.98T>G
n.290T>G
c.445T>G (p.Ser149Ala)
9g.127663230C>ACA374932928STXBP1c.413C>A (p.Ser138Tyr)
c.455C>A (p.Ser152Tyr)
c.*97C>A (n.*97C>A)
c.*1319C>A (n.*1319C>A)
c.397C>A
c.99C>A
n.291C>A
c.446C>A (p.Ser149Tyr)
9g.127663230C>GCA374932929STXBP1c.413C>G (p.Ser138Cys)
c.455C>G (p.Ser152Cys)
c.*97C>G (n.*97C>G)
c.*1319C>G (n.*1319C>G)
c.397C>G
c.99C>G
n.291C>G
c.446C>G (p.Ser149Cys)
 gnomAD v4
9g.127663230C>TCA374932930STXBP1c.413C>T (p.Ser138Phe)
c.455C>T (p.Ser152Phe)
c.*97C>T (n.*97C>T)
c.*1319C>T (n.*1319C>T)
c.397C>T
c.99C>T
n.291C>T
c.446C>T (p.Ser149Phe)
 gnomAD v4
9g.127663231T>ACA467222653STXBP1c.414T>A (p.Ser138=)
c.456T>A (p.Ser152=)
c.*98T>A (n.*98T>A)
c.*1320T>A (n.*1320T>A)
c.398T>A
c.100T>A
n.292T>A
c.447T>A (p.Ser149=)
9g.127663231T>CCA467222655STXBP1c.414T>C (p.Ser138=)
c.456T>C (p.Ser152=)
c.*98T>C (n.*98T>C)
c.*1320T>C (n.*1320T>C)
c.398T>C
c.100T>C
n.292T>C
c.447T>C (p.Ser149=)
9g.127663231T>GCA467222657STXBP1c.414T>G (p.Ser138=)
c.456T>G (p.Ser152=)
c.*98T>G (n.*98T>G)
c.*1320T>G (n.*1320T>G)
c.398T>G
c.100T>G
n.292T>G
c.447T>G (p.Ser149=)
 ClinVar dbSNP
9g.127663232_127663233delCA2739265034STXBP1c.415_416del (p.Phe139ProfsTer?)
c.457_458del (p.Phe153ProfsTer?)
c.*99_*100del (n.*99_*100del)
c.*1321_*1322del (n.*1321_*1322del)
c.399_400del
c.101_102del
n.293_294del
c.448_449del (p.Phe150ProfsTer?)
 ClinVar
9g.127663232T>ACA374932931STXBP1c.415T>A (p.Phe139Ile)
c.457T>A (p.Phe153Ile)
c.*99T>A (n.*99T>A)
c.*1321T>A (n.*1321T>A)
c.399T>A
c.101T>A
n.293T>A
c.448T>A (p.Phe150Ile)
9g.127663232T>CCA374932933STXBP1c.415T>C (p.Phe139Leu)
c.457T>C (p.Phe153Leu)
c.*99T>C (n.*99T>C)
c.*1321T>C (n.*1321T>C)
c.399T>C
c.101T>C
n.293T>C
c.448T>C (p.Phe150Leu)
9g.127663232T>GCA374932932STXBP1c.415T>G (p.Phe139Val)
c.457T>G (p.Phe153Val)
c.*99T>G (n.*99T>G)
c.*1321T>G (n.*1321T>G)
c.399T>G
c.101T>G
n.293T>G
c.448T>G (p.Phe150Val)
9g.127663233T>ACA374932934STXBP1c.416T>A (p.Phe139Tyr)
c.458T>A (p.Phe153Tyr)
c.*100T>A (n.*100T>A)
c.*1322T>A (n.*1322T>A)
c.400T>A
c.102T>A
n.294T>A
c.449T>A (p.Phe150Tyr)
9g.127663233T>CCA374932935STXBP1c.416T>C (p.Phe139Ser)
c.458T>C (p.Phe153Ser)
c.*100T>C (n.*100T>C)
c.*1322T>C (n.*1322T>C)
c.400T>C
c.102T>C
n.294T>C
c.449T>C (p.Phe150Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.127663233T>GCA374932936STXBP1c.416T>G (p.Phe139Cys)
c.458T>G (p.Phe153Cys)
c.*100T>G (n.*100T>G)
c.*1322T>G (n.*1322T>G)
c.400T>G
c.102T>G
n.294T>G
c.449T>G (p.Phe150Cys)
9g.127663233T=CA1879908320STXBP1c.416T= (p.Phe139=)
c.458T= (p.Phe153=)
c.*100T= (n.*100T=)
c.*1322T= (n.*1322T=)
c.400T=
c.102T=
n.294T=
c.449T= (p.Phe150=)
9g.127663234C>ACA374932937STXBP1c.417C>A (p.Phe139Leu)
c.459C>A (p.Phe153Leu)
c.*101C>A (n.*101C>A)
c.*1323C>A (n.*1323C>A)
c.401C>A
c.103C>A
n.295C>A
c.450C>A (p.Phe150Leu)
9g.127663234C=CA1879908321STXBP1c.417C= (p.Phe139=)
c.459C= (p.Phe153=)
c.*101C= (n.*101C=)
c.*1323C= (n.*1323C=)
c.401C=
c.103C=
n.295C=
c.450C= (p.Phe150=)
9g.127663234C>GCA374932938STXBP1c.417C>G (p.Phe139Leu)
c.459C>G (p.Phe153Leu)
c.*101C>G (n.*101C>G)
c.*1323C>G (n.*1323C>G)
c.401C>G
c.103C>G
n.295C>G
c.450C>G (p.Phe150Leu)
9g.127663234C>TCA467222683STXBP1c.417C>T (p.Phe139=)
c.459C>T (p.Phe153=)
c.*101C>T (n.*101C>T)
c.*1323C>T (n.*1323C>T)
c.401C>T
c.103C>T
n.295C>T
c.450C>T (p.Phe150=)
 dbSNP gnomAD v4
9g.127663235C>ACA374932939STXBP1c.418C>A (p.Gln140Lys)
c.460C>A (p.Gln154Lys)
c.*102C>A (n.*102C>A)
c.*1324C>A (n.*1324C>A)
c.402C>A
c.104C>A
n.296C>A
c.451C>A (p.Gln151Lys)
9g.127663235C>GCA374932941STXBP1c.418C>G (p.Gln140Glu)
c.460C>G (p.Gln154Glu)
c.*102C>G (n.*102C>G)
c.*1324C>G (n.*1324C>G)
c.402C>G
c.104C>G
n.296C>G
c.451C>G (p.Gln151Glu)
9g.127663235C>TCA374932940STXBP1c.418C>T (p.Gln140Ter)
c.460C>T (p.Gln154Ter)
c.*102C>T (n.*102C>T)
c.*1324C>T (n.*1324C>T)
c.402C>T
c.104C>T
n.296C>T
c.451C>T (p.Gln151Ter)
9g.127663235_127663236delinsCACA1879908322STXBP1c.418_419delinsCA (p.Gln140=)
c.460_461delinsCA (p.Gln154=)
c.*102_*103delinsCA (n.*102_*103delinsCA)
c.*1324_*1325delinsCA (n.*1324_*1325delinsCA)
c.402_403delinsCA
c.104_105delinsCA
n.296_297delinsCA
c.451_452delinsCA (p.Gln151=)
9g.127663236A>CCA374932942STXBP1c.419A>C (p.Gln140Pro)
c.461A>C (p.Gln154Pro)
c.*103A>C (n.*103A>C)
c.*1325A>C (n.*1325A>C)
c.403A>C
c.105A>C
n.297A>C
c.452A>C (p.Gln151Pro)
9g.127663236A>GCA374932943STXBP1c.419A>G (p.Gln140Arg)
c.461A>G (p.Gln154Arg)
c.*103A>G (n.*103A>G)
c.*1325A>G (n.*1325A>G)
c.403A>G
c.105A>G
n.297A>G
c.452A>G (p.Gln151Arg)
9g.127663236A>TCA374932944STXBP1c.419A>T (p.Gln140Leu)
c.461A>T (p.Gln154Leu)
c.*103A>T (n.*103A>T)
c.*1325A>T (n.*1325A>T)
c.403A>T
c.105A>T
n.297A>T
c.452A>T (p.Gln151Leu)
9g.127663238delCA1139661181STXBP1c.421del (p.Ser141AlafsTer10)
c.463del (p.Ser155AlafsTer10)
c.*105del (n.*105del)
c.*1327del (n.*1327del)
c.405del
c.107del
c.421del (p.Ser141AlafsTer?)
n.299del
c.454del (p.Ser152AlafsTer10)
 ClinVar dbSNP
9g.127663237A=CA1879908323STXBP1c.420A= (p.Gln140=)
c.462A= (p.Gln154=)
c.*104A= (n.*104A=)
c.*1326A= (n.*1326A=)
c.404A=
c.106A=
n.298A=
c.453A= (p.Gln151=)
9g.127663237A>CCA5248320STXBP1c.420A>C (p.Gln140His)
c.462A>C (p.Gln154His)
c.*104A>C (n.*104A>C)
c.*1326A>C (n.*1326A>C)
c.404A>C
c.106A>C
n.298A>C
c.453A>C (p.Gln151His)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127663237A>GCA467222701STXBP1c.420A>G (p.Gln140=)
c.462A>G (p.Gln154=)
c.*104A>G (n.*104A>G)
c.*1326A>G (n.*1326A>G)
c.404A>G
c.106A>G
n.298A>G
c.453A>G (p.Gln151=)
9g.127663237A>TCA374932945STXBP1c.420A>T (p.Gln140His)
c.462A>T (p.Gln154His)
c.*104A>T (n.*104A>T)
c.*1326A>T (n.*1326A>T)
c.404A>T
c.106A>T
n.298A>T
c.453A>T (p.Gln151His)
9g.127663238A>CCA374932946STXBP1c.421A>C (p.Ser141Arg)
c.463A>C (p.Ser155Arg)
c.*105A>C (n.*105A>C)
c.*1327A>C (n.*1327A>C)
c.405A>C
c.107A>C
n.299A>C
c.454A>C (p.Ser152Arg)
9g.127663238A>GCA374932947STXBP1c.421A>G (p.Ser141Gly)
c.463A>G (p.Ser155Gly)
c.*105A>G (n.*105A>G)
c.*1327A>G (n.*1327A>G)
c.405A>G
c.107A>G
n.299A>G
c.454A>G (p.Ser152Gly)
9g.127663238A>TCA374932948STXBP1c.421A>T (p.Ser141Cys)
c.463A>T (p.Ser155Cys)
c.*105A>T (n.*105A>T)
c.*1327A>T (n.*1327A>T)
c.405A>T
c.107A>T
n.299A>T
c.454A>T (p.Ser152Cys)
9g.127663239delCA2739291261STXBP1c.422del (p.Ser141ThrfsTer10)
c.464del (p.Ser155ThrfsTer10)
c.*106del (n.*106del)
c.*1328del (n.*1328del)
c.406del
c.108del
c.422del (p.Ser141ThrfsTer?)
n.300del
c.455del (p.Ser152ThrfsTer10)
9g.127663239G>ACA374932949STXBP1c.422G>A (p.Ser141Asn)
c.464G>A (p.Ser155Asn)
c.*106G>A (n.*106G>A)
c.*1328G>A (n.*1328G>A)
c.406G>A
c.108G>A
n.300G>A
c.455G>A (p.Ser152Asn)
 ClinVar dbSNP
9g.127663239G>CCA374932950STXBP1c.422G>C (p.Ser141Thr)
c.464G>C (p.Ser155Thr)
c.*106G>C (n.*106G>C)
c.*1328G>C (n.*1328G>C)
c.406G>C
c.108G>C
n.300G>C
c.455G>C (p.Ser152Thr)
9g.127663239G=CA1879908324STXBP1c.422G= (p.Ser141=)
c.464G= (p.Ser155=)
c.*106G= (n.*106G=)
c.*1328G= (n.*1328G=)
c.406G=
c.108G=
n.300G=
c.455G= (p.Ser152=)
9g.127663239G>TCA374932951STXBP1c.422G>T (p.Ser141Ile)
c.464G>T (p.Ser155Ile)
c.*106G>T (n.*106G>T)
c.*1328G>T (n.*1328G>T)
c.406G>T
c.108G>T
n.300G>T
c.455G>T (p.Ser152Ile)
9g.127663240C>ACA374932952STXBP1c.423C>A (p.Ser141Arg)
c.465C>A (p.Ser155Arg)
c.*107C>A (n.*107C>A)
c.*1329C>A (n.*1329C>A)
c.407C>A
c.109C>A
n.301C>A
c.456C>A (p.Ser152Arg)
9g.127663240C>GCA374932953STXBP1c.423C>G (p.Ser141Arg)
c.465C>G (p.Ser155Arg)
c.*107C>G (n.*107C>G)
c.*1329C>G (n.*1329C>G)
c.407C>G
c.109C>G
n.301C>G
c.456C>G (p.Ser152Arg)
9g.127663240C>TCA467222731STXBP1c.423C>T (p.Ser141=)
c.465C>T (p.Ser155=)
c.*107C>T (n.*107C>T)
c.*1329C>T (n.*1329C>T)
c.407C>T
c.109C>T
n.301C>T
c.456C>T (p.Ser152=)
9g.127663241T>ACA374932954STXBP1c.424T>A (p.Phe142Ile)
c.466T>A (p.Phe156Ile)
c.*108T>A (n.*108T>A)
c.*1330T>A (n.*1330T>A)
c.408T>A
c.110T>A
n.302T>A
c.457T>A (p.Phe153Ile)
9g.127663241T>CCA374932956STXBP1c.424T>C (p.Phe142Leu)
c.466T>C (p.Phe156Leu)
c.*108T>C (n.*108T>C)
c.*1330T>C (n.*1330T>C)
c.408T>C
c.110T>C
n.302T>C
c.457T>C (p.Phe153Leu)
9g.127663241T>GCA374932955STXBP1c.424T>G (p.Phe142Val)
c.466T>G (p.Phe156Val)
c.*108T>G (n.*108T>G)
c.*1330T>G (n.*1330T>G)
c.408T>G
c.110T>G
n.302T>G
c.457T>G (p.Phe153Val)
9g.127663242T>ACA374932957STXBP1c.425T>A (p.Phe142Tyr)
c.467T>A (p.Phe156Tyr)
c.*109T>A (n.*109T>A)
c.*1331T>A (n.*1331T>A)
c.409T>A
c.111T>A
n.303T>A
c.458T>A (p.Phe153Tyr)
9g.127663242T>CCA374932958STXBP1c.425T>C (p.Phe142Ser)
c.467T>C (p.Phe156Ser)
c.*109T>C (n.*109T>C)
c.*1331T>C (n.*1331T>C)
c.409T>C
c.111T>C
n.303T>C
c.458T>C (p.Phe153Ser)
9g.127663242T>GCA374932959STXBP1c.425T>G (p.Phe142Cys)
c.467T>G (p.Phe156Cys)
c.*109T>G (n.*109T>G)
c.*1331T>G (n.*1331T>G)
c.409T>G
c.111T>G
n.303T>G
c.458T>G (p.Phe153Cys)
9g.127663243C>ACA374932960STXBP1c.426C>A (p.Phe142Leu)
c.468C>A (p.Phe156Leu)
c.*110C>A (n.*110C>A)
c.*1332C>A (n.*1332C>A)
c.410C>A
c.112C>A
n.304C>A
c.459C>A (p.Phe153Leu)
9g.127663243C>GCA374932961STXBP1c.426C>G (p.Phe142Leu)
c.468C>G (p.Phe156Leu)
c.*110C>G (n.*110C>G)
c.*1332C>G (n.*1332C>G)
c.410C>G
c.112C>G
n.304C>G
c.459C>G (p.Phe153Leu)
9g.127663243C>TCA467222746STXBP1c.426C>T (p.Phe142=)
c.468C>T (p.Phe156=)
c.*110C>T (n.*110C>T)
c.*1332C>T (n.*1332C>T)
c.410C>T
c.112C>T
n.304C>T
c.459C>T (p.Phe153=)
 gnomAD v4
9g.127663244T>ACA374932962STXBP1c.427T>A (p.Tyr143Asn)
c.469T>A (p.Tyr157Asn)
c.*111T>A (n.*111T>A)
c.*1333T>A (n.*1333T>A)
c.411T>A
c.113T>A
n.305T>A
c.460T>A (p.Tyr154Asn)
9g.127663244T>CCA374932963STXBP1c.427T>C (p.Tyr143His)
c.469T>C (p.Tyr157His)
c.*111T>C (n.*111T>C)
c.*1333T>C (n.*1333T>C)
c.411T>C
c.113T>C
n.305T>C
c.460T>C (p.Tyr154His)
9g.127663244T>GCA374932964STXBP1c.427T>G (p.Tyr143Asp)
c.469T>G (p.Tyr157Asp)
c.*111T>G (n.*111T>G)
c.*1333T>G (n.*1333T>G)
c.411T>G
c.113T>G
n.305T>G
c.460T>G (p.Tyr154Asp)
9g.127663245A>CCA374932965STXBP1c.428A>C (p.Tyr143Ser)
c.470A>C (p.Tyr157Ser)
c.*112A>C (n.*112A>C)
c.*1334A>C (n.*1334A>C)
c.412A>C
c.114A>C
n.306A>C
c.461A>C (p.Tyr154Ser)
9g.127663245A>GCA374932966STXBP1c.428A>G (p.Tyr143Cys)
c.470A>G (p.Tyr157Cys)
c.*112A>G (n.*112A>G)
c.*1334A>G (n.*1334A>G)
c.412A>G
c.114A>G
n.306A>G
c.461A>G (p.Tyr154Cys)
9g.127663245A>TCA374932967STXBP1c.428A>T (p.Tyr143Phe)
c.470A>T (p.Tyr157Phe)
c.*112A>T (n.*112A>T)
c.*1334A>T (n.*1334A>T)
c.412A>T
c.114A>T
n.306A>T
c.461A>T (p.Tyr154Phe)
9g.127663246C>ACA374932968STXBP1c.429C>A (p.Tyr143Ter)
c.471C>A (p.Tyr157Ter)
c.*113C>A (n.*113C>A)
c.*1335C>A (n.*1335C>A)
c.413C>A
c.115C>A
n.307C>A
c.462C>A (p.Tyr154Ter)
9g.127663246C>GCA374932969STXBP1c.429C>G (p.Tyr143Ter)
c.471C>G (p.Tyr157Ter)
c.*113C>G (n.*113C>G)
c.*1335C>G (n.*1335C>G)
c.413C>G
c.115C>G
n.307C>G
c.462C>G (p.Tyr154Ter)
9g.127663246C>TCA467222767STXBP1c.429C>T (p.Tyr143=)
c.471C>T (p.Tyr157=)
c.*113C>T (n.*113C>T)
c.*1335C>T (n.*1335C>T)
c.413C>T
c.115C>T
n.307C>T
c.462C>T (p.Tyr154=)
 gnomAD v4 COSMIC COSMIC
9g.127663247A>CCA374932972STXBP1c.430A>C (p.Ser144Arg)
c.472A>C (p.Ser158Arg)
c.*114A>C (n.*114A>C)
c.*1336A>C (n.*1336A>C)
c.414A>C
c.116A>C
n.308A>C
c.463A>C (p.Ser155Arg)
9g.127663247A>GCA374932970STXBP1c.430A>G (p.Ser144Gly)
c.472A>G (p.Ser158Gly)
c.*114A>G (n.*114A>G)
c.*1336A>G (n.*1336A>G)
c.414A>G
c.116A>G
n.308A>G
c.463A>G (p.Ser155Gly)
 gnomAD v4
9g.127663247A>TCA374932971STXBP1c.430A>T (p.Ser144Cys)
c.472A>T (p.Ser158Cys)
c.*114A>T (n.*114A>T)
c.*1336A>T (n.*1336A>T)
c.414A>T
c.116A>T
n.308A>T
c.463A>T (p.Ser155Cys)
9g.127663248G>ACA374932973STXBP1c.431G>A (p.Ser144Asn)
c.473G>A (p.Ser158Asn)
c.*115G>A (n.*115G>A)
c.*1337G>A (n.*1337G>A)
c.415G>A
c.117G>A
n.309G>A
c.464G>A (p.Ser155Asn)
9g.127663248G>CCA374932974STXBP1c.431G>C (p.Ser144Thr)
c.473G>C (p.Ser158Thr)
c.*115G>C (n.*115G>C)
c.*1337G>C (n.*1337G>C)
c.415G>C
c.117G>C
n.309G>C
c.464G>C (p.Ser155Thr)
9g.127663248G>TCA374932975STXBP1c.431G>T (p.Ser144Ile)
c.473G>T (p.Ser158Ile)
c.*115G>T (n.*115G>T)
c.*1337G>T (n.*1337G>T)
c.415G>T
c.117G>T
n.309G>T
c.464G>T (p.Ser155Ile)
9g.127663249T>ACA374932976STXBP1c.432T>A (p.Ser144Arg)
c.474T>A (p.Ser158Arg)
c.*116T>A (n.*116T>A)
c.*1338T>A (n.*1338T>A)
c.416T>A
c.118T>A
n.310T>A
c.465T>A (p.Ser155Arg)
9g.127663249T>CCA467222801STXBP1c.432T>C (p.Ser144=)
c.474T>C (p.Ser158=)
c.*116T>C (n.*116T>C)
c.*1338T>C (n.*1338T>C)
c.416T>C
c.118T>C
n.310T>C
c.465T>C (p.Ser155=)
 dbSNP gnomAD v2 gnomAD v4
9g.127663249T>GCA374932977STXBP1c.432T>G (p.Ser144Arg)
c.474T>G (p.Ser158Arg)
c.*116T>G (n.*116T>G)
c.*1338T>G (n.*1338T>G)
c.416T>G
c.118T>G
n.310T>G
c.465T>G (p.Ser155Arg)
9g.127663249T=CA1879908325STXBP1c.432T= (p.Ser144=)
c.474T= (p.Ser158=)
c.*116T= (n.*116T=)
c.*1338T= (n.*1338T=)
c.416T=
c.118T=
n.310T=
c.465T= (p.Ser155=)
9g.127663250C>ACA374932978STXBP1c.433C>A (p.Pro145Thr)
c.475C>A (p.Pro159Thr)
c.*117C>A (n.*117C>A)
c.*1339C>A (n.*1339C>A)
c.417C>A
c.119C>A
n.311C>A
c.466C>A (p.Pro156Thr)
 ClinVar
9g.127663250C>GCA374932979STXBP1c.433C>G (p.Pro145Ala)
c.475C>G (p.Pro159Ala)
c.*117C>G (n.*117C>G)
c.*1339C>G (n.*1339C>G)
c.417C>G
c.119C>G
n.311C>G
c.466C>G (p.Pro156Ala)
9g.127663250C>TCA374932980STXBP1c.433C>T (p.Pro145Ser)
c.475C>T (p.Pro159Ser)
c.*117C>T (n.*117C>T)
c.*1339C>T (n.*1339C>T)
c.417C>T
c.119C>T
n.311C>T
c.466C>T (p.Pro156Ser)
9g.127663251C>ACA374932981STXBP1c.434C>A (p.Pro145His)
c.476C>A (p.Pro159His)
c.*118C>A (n.*118C>A)
c.*1340C>A (n.*1340C>A)
c.418C>A
c.120C>A
n.312C>A
c.467C>A (p.Pro156His)
9g.127663251C>GCA374932982STXBP1c.434C>G (p.Pro145Arg)
c.476C>G (p.Pro159Arg)
c.*118C>G (n.*118C>G)
c.*1340C>G (n.*1340C>G)
c.418C>G
c.120C>G
n.312C>G
c.467C>G (p.Pro156Arg)
9g.127663251C>TCA374932983STXBP1c.434C>T (p.Pro145Leu)
c.476C>T (p.Pro159Leu)
c.*118C>T (n.*118C>T)
c.*1340C>T (n.*1340C>T)
c.418C>T
c.120C>T
n.312C>T
c.467C>T (p.Pro156Leu)
9g.127663252C>ACA467222833STXBP1c.435C>A (p.Pro145=)
c.477C>A (p.Pro159=)
c.*119C>A (n.*119C>A)
c.*1341C>A (n.*1341C>A)
c.419C>A
c.121C>A
n.313C>A
c.468C>A (p.Pro156=)
9g.127663252C=CA1879908326STXBP1c.435C= (p.Pro145=)
c.477C= (p.Pro159=)
c.*119C= (n.*119C=)
c.*1341C= (n.*1341C=)
c.419C=
c.121C=
n.313C=
c.468C= (p.Pro156=)
9g.127663252C>GCA5248321STXBP1c.435C>G (p.Pro145=)
c.477C>G (p.Pro159=)
c.*119C>G (n.*119C>G)
c.*1341C>G (n.*1341C>G)
c.419C>G
c.121C>G
n.313C>G
c.468C>G (p.Pro156=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127663252C>TCA467222837STXBP1c.435C>T (p.Pro145=)
c.477C>T (p.Pro159=)
c.*119C>T (n.*119C>T)
c.*1341C>T (n.*1341C>T)
c.419C>T
c.121C>T
n.313C>T
c.468C>T (p.Pro156=)
 COSMIC COSMIC
9g.127663253C>ACA374932986STXBP1c.436C>A (p.His146Asn)
c.478C>A (p.His160Asn)
c.*120C>A (n.*120C>A)
c.*1342C>A (n.*1342C>A)
c.420C>A
c.122C>A
n.314C>A
c.469C>A (p.His157Asn)
 ClinVar dbSNP gnomAD v4
9g.127663253C=CA1879908327STXBP1c.436C= (p.His146=)
c.478C= (p.His160=)
c.*120C= (n.*120C=)
c.*1342C= (n.*1342C=)
c.420C=
c.122C=
n.314C=
c.469C= (p.His157=)
9g.127663253C>GCA374932984STXBP1c.436C>G (p.His146Asp)
c.478C>G (p.His160Asp)
c.*120C>G (n.*120C>G)
c.*1342C>G (n.*1342C>G)
c.420C>G
c.122C>G
n.314C>G
c.469C>G (p.His157Asp)
9g.127663253C>TCA374932985STXBP1c.436C>T (p.His146Tyr)
c.478C>T (p.His160Tyr)
c.*120C>T (n.*120C>T)
c.*1342C>T (n.*1342C>T)
c.420C>T
c.122C>T
n.314C>T
c.469C>T (p.His157Tyr)
 ClinVar
9g.127663254A=CA1879908328STXBP1c.437A= (p.His146=)
c.479A= (p.His160=)
c.*121A= (n.*121A=)
c.*1343A= (n.*1343A=)
c.421A=
c.123A=
n.315A=
c.470A= (p.His157=)
9g.127663254A>CCA374932987STXBP1c.437A>C (p.His146Pro)
c.479A>C (p.His160Pro)
c.*121A>C (n.*121A>C)
c.*1343A>C (n.*1343A>C)
c.421A>C
c.123A>C
n.315A>C
c.470A>C (p.His157Pro)
9g.127663254A>GCA374932988STXBP1c.437A>G (p.His146Arg)
c.479A>G (p.His160Arg)
c.*121A>G (n.*121A>G)
c.*1343A>G (n.*1343A>G)
c.421A>G
c.123A>G
n.315A>G
c.470A>G (p.His157Arg)
9g.127663254A>TCA374932989STXBP1c.437A>T (p.His146Leu)
c.479A>T (p.His160Leu)
c.*121A>T (n.*121A>T)
c.*1343A>T (n.*1343A>T)
c.421A>T
c.123A>T
n.315A>T
c.470A>T (p.His157Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.127663255C>ACA374932990STXBP1c.438C>A (p.His146Gln)
c.480C>A (p.His160Gln)
c.*122C>A (n.*122C>A)
c.*1344C>A (n.*1344C>A)
c.422C>A
c.124C>A
n.316C>A
c.471C>A (p.His157Gln)
9g.127663255C>GCA374932991STXBP1c.438C>G (p.His146Gln)
c.480C>G (p.His160Gln)
c.*122C>G (n.*122C>G)
c.*1344C>G (n.*1344C>G)
c.422C>G
c.124C>G
n.316C>G
c.471C>G (p.His157Gln)
9g.127663255C>TCA467222859STXBP1c.438C>T (p.His146=)
c.480C>T (p.His160=)
c.*122C>T (n.*122C>T)
c.*1344C>T (n.*1344C>T)
c.422C>T
c.124C>T
n.316C>T
c.471C>T (p.His157=)
 gnomAD v4
9g.127663256A>CCA374932992STXBP1c.439A>C (p.Lys147Gln)
c.481A>C (p.Lys161Gln)
c.*123A>C (n.*123A>C)
c.*1345A>C (n.*1345A>C)
c.423A>C
c.125A>C
n.317A>C
c.472A>C (p.Lys158Gln)
9g.127663256A>GCA374932993STXBP1c.439A>G (p.Lys147Glu)
c.481A>G (p.Lys161Glu)
c.*123A>G (n.*123A>G)
c.*1345A>G (n.*1345A>G)
c.423A>G
c.125A>G
n.317A>G
c.472A>G (p.Lys158Glu)
9g.127663256A>TCA374932994STXBP1c.439A>T (p.Lys147Ter)
c.481A>T (p.Lys161Ter)
c.*123A>T (n.*123A>T)
c.*1345A>T (n.*1345A>T)
c.423A>T
c.125A>T
n.317A>T
c.472A>T (p.Lys158Ter)
9g.127663257A=CA1879908329STXBP1c.440A= (p.Lys147=)
c.482A= (p.Lys161=)
c.*124A= (n.*124A=)
c.*1346A= (n.*1346A=)
c.424A=
c.126A=
n.318A=
c.473A= (p.Lys158=)
9g.127663257A>CCA374932995STXBP1c.440A>C (p.Lys147Thr)
c.482A>C (p.Lys161Thr)
c.*124A>C (n.*124A>C)
c.*1346A>C (n.*1346A>C)
c.424A>C
c.126A>C
n.318A>C
c.473A>C (p.Lys158Thr)
9g.127663257A>GCA374932996STXBP1c.440A>G (p.Lys147Arg)
c.482A>G (p.Lys161Arg)
c.*124A>G (n.*124A>G)
c.*1346A>G (n.*1346A>G)
c.424A>G
c.126A>G
n.318A>G
c.473A>G (p.Lys158Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.127663257A>TCA374932997STXBP1c.440A>T (p.Lys147Met)
c.482A>T (p.Lys161Met)
c.*124A>T (n.*124A>T)
c.*1346A>T (n.*1346A>T)
c.424A>T
c.126A>T
n.318A>T
c.473A>T (p.Lys158Met)
9g.127663258G>ACA467222877STXBP1c.441G>A (p.Lys147=)
c.483G>A (p.Lys161=)
c.*125G>A (n.*125G>A)
c.*1347G>A (n.*1347G>A)
c.425G>A
c.127G>A
n.319G>A
c.474G>A (p.Lys158=)
9g.127663258G>CCA374932998STXBP1c.441G>C (p.Lys147Asn)
c.483G>C (p.Lys161Asn)
c.*125G>C (n.*125G>C)
c.*1347G>C (n.*1347G>C)
c.425G>C
c.127G>C
n.319G>C
c.474G>C (p.Lys158Asn)
9g.127663258G>TCA374932999STXBP1c.441G>T (p.Lys147Asn)
c.483G>T (p.Lys161Asn)
c.*125G>T (n.*125G>T)
c.*1347G>T (n.*1347G>T)
c.425G>T
c.127G>T
n.319G>T
c.474G>T (p.Lys158Asn)
9g.127663259G>ACA374933002STXBP1c.442G>A (p.Ala148Thr)
c.484G>A (p.Ala162Thr)
c.*126G>A (n.*126G>A)
c.*1348G>A (n.*1348G>A)
c.426G>A
c.128G>A
n.320G>A
c.475G>A (p.Ala159Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.127663259G>CCA374933001STXBP1c.442G>C (p.Ala148Pro)
c.484G>C (p.Ala162Pro)
c.*126G>C (n.*126G>C)
c.*1348G>C (n.*1348G>C)
c.426G>C
c.128G>C
n.320G>C
c.475G>C (p.Ala159Pro)
9g.127663259G=CA1879908330STXBP1c.442G= (p.Ala148=)
c.484G= (p.Ala162=)
c.*126G= (n.*126G=)
c.*1348G= (n.*1348G=)
c.426G=
c.128G=
n.320G=
c.475G= (p.Ala159=)
9g.127663259G>TCA374933000STXBP1c.442G>T (p.Ala148Ser)
c.484G>T (p.Ala162Ser)
c.*126G>T (n.*126G>T)
c.*1348G>T (n.*1348G>T)
c.426G>T
c.128G>T
n.320G>T
c.475G>T (p.Ala159Ser)
9g.127663260C>ACA374933003STXBP1c.443C>A (p.Ala148Asp)
c.485C>A (p.Ala162Asp)
c.*127C>A (n.*127C>A)
c.*1349C>A (n.*1349C>A)
c.427C>A
c.129C>A
n.321C>A
c.476C>A (p.Ala159Asp)
9g.127663260C>GCA374933004STXBP1c.443C>G (p.Ala148Gly)
c.485C>G (p.Ala162Gly)
c.*127C>G (n.*127C>G)
c.*1349C>G (n.*1349C>G)
c.427C>G
c.129C>G
n.321C>G
c.476C>G (p.Ala159Gly)
9g.127663260C>TCA374933005STXBP1c.443C>T (p.Ala148Val)
c.485C>T (p.Ala162Val)
c.*127C>T (n.*127C>T)
c.*1349C>T (n.*1349C>T)
c.427C>T
c.129C>T
n.321C>T
c.476C>T (p.Ala159Val)
 gnomAD v4
9g.127663261T>ACA467222890STXBP1c.444T>A (p.Ala148=)
c.486T>A (p.Ala162=)
c.*128T>A (n.*128T>A)
c.*1350T>A (n.*1350T>A)
c.428T>A
c.130T>A
n.322T>A
c.477T>A (p.Ala159=)
 ClinVar
9g.127663261T>CCA467222895STXBP1c.444T>C (p.Ala148=)
c.486T>C (p.Ala162=)
c.*128T>C (n.*128T>C)
c.*1350T>C (n.*1350T>C)
c.428T>C
c.130T>C
n.322T>C
c.477T>C (p.Ala159=)
 ClinVar
9g.127663261T>GCA467222899STXBP1c.444T>G (p.Ala148=)
c.486T>G (p.Ala162=)
c.*128T>G (n.*128T>G)
c.*1350T>G (n.*1350T>G)
c.428T>G
c.130T>G
n.322T>G
c.477T>G (p.Ala159=)
9g.127663262C>ACA374933006STXBP1c.445C>A (p.Gln149Lys)
c.487C>A (p.Gln163Lys)
c.*129C>A (n.*129C>A)
c.*1351C>A (n.*1351C>A)
c.429C>A
c.131C>A
n.323C>A
c.478C>A (p.Gln160Lys)
9g.127663262C>GCA374933007STXBP1c.445C>G (p.Gln149Glu)
c.487C>G (p.Gln163Glu)
c.*129C>G (n.*129C>G)
c.*1351C>G (n.*1351C>G)
c.429C>G
c.131C>G
n.323C>G
c.478C>G (p.Gln160Glu)
9g.127663262C>TCA374933008STXBP1c.445C>T (p.Gln149Ter)
c.487C>T (p.Gln163Ter)
c.*129C>T (n.*129C>T)
c.*1351C>T (n.*1351C>T)
c.429C>T
c.131C>T
n.323C>T
c.478C>T (p.Gln160Ter)
9g.127663263A=CA1879908331STXBP1c.446A= (p.Gln149=)
c.488A= (p.Gln163=)
c.*130A= (n.*130A=)
c.*1352A= (n.*1352A=)
c.430A=
c.132A=
n.324A=
c.479A= (p.Gln160=)
9g.127663263A>CCA374933009STXBP1c.446A>C (p.Gln149Pro)
c.488A>C (p.Gln163Pro)
c.*130A>C (n.*130A>C)
c.*1352A>C (n.*1352A>C)
c.430A>C
c.132A>C
n.324A>C
c.479A>C (p.Gln160Pro)
9g.127663263A>GCA374933010STXBP1c.446A>G (p.Gln149Arg)
c.488A>G (p.Gln163Arg)
c.*130A>G (n.*130A>G)
c.*1352A>G (n.*1352A>G)
c.430A>G
c.132A>G
n.324A>G
c.479A>G (p.Gln160Arg)
 ClinVar dbSNP gnomAD v4
9g.127663263A>TCA374933011STXBP1c.446A>T (p.Gln149Leu)
c.488A>T (p.Gln163Leu)
c.*130A>T (n.*130A>T)
c.*1352A>T (n.*1352A>T)
c.430A>T
c.132A>T
n.324A>T
c.479A>T (p.Gln160Leu)
9g.127663264G>ACA467222913STXBP1c.447G>A (p.Gln149=)
c.489G>A (p.Gln163=)
c.*131G>A (n.*131G>A)
c.*1353G>A (n.*1353G>A)
c.431G>A
c.133G>A
n.325G>A
c.480G>A (p.Gln160=)
9g.127663264G>CCA374933012STXBP1c.447G>C (p.Gln149His)
c.489G>C (p.Gln163His)
c.*131G>C (n.*131G>C)
c.*1353G>C (n.*1353G>C)
c.431G>C
c.133G>C
n.325G>C
c.480G>C (p.Gln160His)
 gnomAD v4
9g.127663264G>TCA374933013STXBP1c.447G>T (p.Gln149His)
c.489G>T (p.Gln163His)
c.*131G>T (n.*131G>T)
c.*1353G>T (n.*1353G>T)
c.431G>T
c.133G>T
n.325G>T
c.480G>T (p.Gln160His)
9g.127663265A>CCA374933014STXBP1c.448A>C (p.Met150Leu)
c.490A>C (p.Met164Leu)
c.*132A>C (n.*132A>C)
c.*1354A>C (n.*1354A>C)
c.432A>C
c.134A>C
c.448A>C
n.326A>C
c.481A>C (p.Met161Leu)
9g.127663265A>GCA374933015STXBP1c.448A>G (p.Met150Val)
c.490A>G (p.Met164Val)
c.*132A>G (n.*132A>G)
c.*1354A>G (n.*1354A>G)
c.432A>G
c.134A>G
c.448A>G
n.326A>G
c.481A>G (p.Met161Val)
9g.127663265A>TCA374933016STXBP1c.448A>T (p.Met150Leu)
c.490A>T (p.Met164Leu)
c.*132A>T (n.*132A>T)
c.*1354A>T (n.*1354A>T)
c.432A>T
c.134A>T
c.448A>T
n.326A>T
c.481A>T (p.Met161Leu)
 gnomAD v4
9g.127663266T>ACA374933019STXBP1c.449T>A (p.Met150Lys)
c.491T>A (p.Met164Lys)
c.*133T>A (n.*133T>A)
c.*1355T>A (n.*1355T>A)
c.433T>A
c.135T>A
n.327T>A
c.482T>A (p.Met161Lys)
9g.127663266T>CCA374933018STXBP1c.449T>C (p.Met150Thr)
c.491T>C (p.Met164Thr)
c.*133T>C (n.*133T>C)
c.*1355T>C (n.*1355T>C)
c.433T>C
c.135T>C
n.327T>C
c.482T>C (p.Met161Thr)
9g.127663266T>GCA374933017STXBP1c.449T>G (p.Met150Arg)
c.491T>G (p.Met164Arg)
c.*133T>G (n.*133T>G)
c.*1355T>G (n.*1355T>G)
c.433T>G
c.135T>G
n.327T>G
c.482T>G (p.Met161Arg)
9g.127663267G>ACA374933020STXBP1c.450G>A (p.Met150Ile)
c.492G>A (p.Met164Ile)
c.*134G>A (n.*134G>A)
c.*1356G>A (n.*1356G>A)
c.434G>A
c.136G>A
n.328G>A
c.483G>A (p.Met161Ile)
 dbSNP
9g.127663267G>CCA374933021STXBP1c.450G>C (p.Met150Ile)
c.492G>C (p.Met164Ile)
c.*134G>C (n.*134G>C)
c.*1356G>C (n.*1356G>C)
c.434G>C
c.136G>C
n.328G>C
c.483G>C (p.Met161Ile)
9g.127663267G=CA1879908332STXBP1c.450G= (p.Met150=)
c.492G= (p.Met164=)
c.*134G= (n.*134G=)
c.*1356G= (n.*1356G=)
c.434G=
c.136G=
n.328G=
c.483G= (p.Met161=)
9g.127663267G>TCA374933022STXBP1c.450G>T (p.Met150Ile)
c.492G>T (p.Met164Ile)
c.*134G>T (n.*134G>T)
c.*1356G>T (n.*1356G>T)
c.434G>T
c.136G>T
n.328G>T
c.483G>T (p.Met161Ile)
9g.127663268A>CCA374933023STXBP1c.451A>C (p.Lys151Gln)
c.493A>C (p.Lys165Gln)
c.*135A>C (n.*135A>C)
c.*1357A>C (n.*1357A>C)
c.435A>C
c.137A>C
n.329A>C
c.484A>C (p.Lys162Gln)
9g.127663268A>GCA374933024STXBP1c.451A>G (p.Lys151Glu)
c.493A>G (p.Lys165Glu)
c.*135A>G (n.*135A>G)
c.*1357A>G (n.*1357A>G)
c.435A>G
c.137A>G
n.329A>G
c.484A>G (p.Lys162Glu)
9g.127663268A>TCA374933025STXBP1c.451A>T (p.Lys151Ter)
c.493A>T (p.Lys165Ter)
c.*135A>T (n.*135A>T)
c.*1357A>T (n.*1357A>T)
c.435A>T
c.137A>T
n.329A>T
c.484A>T (p.Lys162Ter)
9g.127663269A=CA1879908335STXBP1c.452A= (p.Lys151=)
c.494A= (p.Lys165=)
c.*136A= (n.*136A=)
c.*1358A= (n.*1358A=)
c.436A=
c.138A=
n.330A=
c.485A= (p.Lys162=)
9g.127663269A>CCA374933028STXBP1c.452A>C (p.Lys151Thr)
c.494A>C (p.Lys165Thr)
c.*136A>C (n.*136A>C)
c.*1358A>C (n.*1358A>C)
c.436A>C
c.138A>C
n.330A>C
c.485A>C (p.Lys162Thr)
9g.127663269A>GCA374933026STXBP1c.452A>G (p.Lys151Arg)
c.494A>G (p.Lys165Arg)
c.*136A>G (n.*136A>G)
c.*1358A>G (n.*1358A>G)
c.436A>G
c.138A>G
n.330A>G
c.485A>G (p.Lys162Arg)
 ClinVar dbSNP COSMIC COSMIC
9g.127663269A>TCA374933027STXBP1c.452A>T (p.Lys151Met)
c.494A>T (p.Lys165Met)
c.*136A>T (n.*136A>T)
c.*1358A>T (n.*1358A>T)
c.436A>T
c.138A>T
n.330A>T
c.485A>T (p.Lys162Met)
9g.127663270G>ACA467222937STXBP1c.453G>A (p.Lys151=)
c.495G>A (p.Lys165=)
c.*137G>A (n.*137G>A)
c.*1359G>A (n.*1359G>A)
c.437G>A
c.139G>A
n.331G>A
c.486G>A (p.Lys162=)
9g.127663270G>CCA374933029STXBP1c.453G>C (p.Lys151Asn)
c.495G>C (p.Lys165Asn)
c.*137G>C (n.*137G>C)
c.*1359G>C (n.*1359G>C)
c.437G>C
c.139G>C
n.331G>C
c.486G>C (p.Lys162Asn)
9g.127663270G>TCA374933030STXBP1c.453G>T (p.Lys151Asn)
c.495G>T (p.Lys165Asn)
c.*137G>T (n.*137G>T)
c.*1359G>T (n.*1359G>T)
c.437G>T
c.139G>T
n.331G>T
c.486G>T (p.Lys162Asn)
9g.127663271A>CCA374933031STXBP1c.454A>C (p.Asn152His)
c.496A>C (p.Asn166His)
c.*138A>C (n.*138A>C)
c.*1360A>C (n.*1360A>C)
c.438A>C
c.140A>C
n.332A>C
c.487A>C (p.Asn163His)
9g.127663271A>GCA374933032STXBP1c.454A>G (p.Asn152Asp)
c.496A>G (p.Asn166Asp)
c.*138A>G (n.*138A>G)
c.*1360A>G (n.*1360A>G)
c.438A>G
c.140A>G
n.332A>G
c.487A>G (p.Asn163Asp)
 ClinVar gnomAD v4
9g.127663271A>TCA374933033STXBP1c.454A>T (p.Asn152Tyr)
c.496A>T (p.Asn166Tyr)
c.*138A>T (n.*138A>T)
c.*1360A>T (n.*1360A>T)
c.438A>T
c.140A>T
n.332A>T
c.487A>T (p.Asn163Tyr)
9g.127663272delCA2695211192STXBP1c.455del (p.Asn152IlefsTer18)
c.497del (p.Asn166IlefsTer18)
c.*139del (n.*139del)
c.*1361del (n.*1361del)
c.439del
c.141del
n.333del
c.488del (p.Asn163IlefsTer18)
9g.127663272A=CA1879908341STXBP1c.455A= (p.Asn152=)
c.497A= (p.Asn166=)
c.*139A= (n.*139A=)
c.*1361A= (n.*1361A=)
c.439A=
c.141A=
n.333A=
c.488A= (p.Asn163=)
9g.127663272A>CCA374933034STXBP1c.455A>C (p.Asn152Thr)
c.497A>C (p.Asn166Thr)
c.*139A>C (n.*139A>C)
c.*1361A>C (n.*1361A>C)
c.439A>C
c.141A>C
n.333A>C
c.488A>C (p.Asn163Thr)
9g.127663272A>GCA374933036STXBP1c.455A>G (p.Asn152Ser)
c.497A>G (p.Asn166Ser)
c.*139A>G (n.*139A>G)
c.*1361A>G (n.*1361A>G)
c.439A>G
c.141A>G
n.333A>G
c.488A>G (p.Asn163Ser)
 ClinVar dbSNP gnomAD v4
9g.127663272A>TCA374933035STXBP1c.455A>T (p.Asn152Ile)
c.497A>T (p.Asn166Ile)
c.*139A>T (n.*139A>T)
c.*1361A>T (n.*1361A>T)
c.439A>T
c.141A>T
n.333A>T
c.488A>T (p.Asn163Ile)
9g.127663273T>ACA374933037STXBP1c.456T>A (p.Asn152Lys)
c.498T>A (p.Asn166Lys)
c.*140T>A (n.*140T>A)
c.*1362T>A (n.*1362T>A)
c.440T>A
c.142T>A
n.334T>A
c.489T>A (p.Asn163Lys)
9g.127663273T>CCA467222955STXBP1c.456T>C (p.Asn152=)
c.498T>C (p.Asn166=)
c.*140T>C (n.*140T>C)
c.*1362T>C (n.*1362T>C)
c.440T>C
c.142T>C
n.334T>C
c.489T>C (p.Asn163=)
9g.127663273T>GCA374933038STXBP1c.456T>G (p.Asn152Lys)
c.498T>G (p.Asn166Lys)
c.*140T>G (n.*140T>G)
c.*1362T>G (n.*1362T>G)
c.440T>G
c.142T>G
n.334T>G
c.489T>G (p.Asn163Lys)
9g.127663274C>ACA374933039STXBP1c.457C>A (p.Pro153Thr)
c.499C>A (p.Pro167Thr)
c.*141C>A (n.*141C>A)
c.*1363C>A (n.*1363C>A)
c.441C>A
c.143C>A
n.335C>A
c.490C>A (p.Pro164Thr)
9g.127663274C=CA1879908344STXBP1c.457C= (p.Pro153=)
c.499C= (p.Pro167=)
c.*141C= (n.*141C=)
c.*1363C= (n.*1363C=)
c.441C=
c.143C=
n.335C=
c.490C= (p.Pro164=)
9g.127663274C>GCA374933040STXBP1c.457C>G (p.Pro153Ala)
c.499C>G (p.Pro167Ala)
c.*141C>G (n.*141C>G)
c.*1363C>G (n.*1363C>G)
c.441C>G
c.143C>G
n.335C>G
c.490C>G (p.Pro164Ala)
 dbSNP gnomAD v4
9g.127663274C>TCA374933041STXBP1c.457C>T (p.Pro153Ser)
c.499C>T (p.Pro167Ser)
c.*141C>T (n.*141C>T)
c.*1363C>T (n.*1363C>T)
c.441C>T
c.143C>T
n.335C>T
c.490C>T (p.Pro164Ser)
9g.127663275C>ACA374933042STXBP1c.458C>A (p.Pro153His)
c.500C>A (p.Pro167His)
c.*142C>A (n.*142C>A)
c.*1364C>A (n.*1364C>A)
c.442C>A
c.144C>A
n.336C>A
c.491C>A (p.Pro164His)
9g.127663275C>GCA374933043STXBP1c.458C>G (p.Pro153Arg)
c.500C>G (p.Pro167Arg)
c.*142C>G (n.*142C>G)
c.*1364C>G (n.*1364C>G)
c.442C>G
c.144C>G
n.336C>G
c.491C>G (p.Pro164Arg)
9g.127663275C>TCA374933044STXBP1c.458C>T (p.Pro153Leu)
c.500C>T (p.Pro167Leu)
c.*142C>T (n.*142C>T)
c.*1364C>T (n.*1364C>T)
c.442C>T
c.144C>T
n.336C>T
c.491C>T (p.Pro164Leu)
9g.127663276T>ACA467222970STXBP1c.459T>A (p.Pro153=)
c.501T>A (p.Pro167=)
c.*143T>A (n.*143T>A)
c.*1365T>A (n.*1365T>A)
c.443T>A
c.145T>A
n.337T>A
c.492T>A (p.Pro164=)
9g.127663276T>CCA467222972STXBP1c.459T>C (p.Pro153=)
c.501T>C (p.Pro167=)
c.*143T>C (n.*143T>C)
c.*1365T>C (n.*1365T>C)
c.443T>C
c.145T>C
n.337T>C
c.492T>C (p.Pro164=)
9g.127663276T>GCA467222973STXBP1c.459T>G (p.Pro153=)
c.501T>G (p.Pro167=)
c.*143T>G (n.*143T>G)
c.*1365T>G (n.*1365T>G)
c.443T>G
c.145T>G
n.337T>G
c.492T>G (p.Pro164=)
9g.127663277A=CA1879908348STXBP1c.460A= (p.Ile154=)
c.502A= (p.Ile168=)
c.*144A= (n.*144A=)
c.*1366A= (n.*1366A=)
c.444A=
c.146A=
n.338A=
c.493A= (p.Ile165=)
9g.127663277A>CCA374933045STXBP1c.460A>C (p.Ile154Leu)
c.502A>C (p.Ile168Leu)
c.*144A>C (n.*144A>C)
c.*1366A>C (n.*1366A>C)
c.444A>C
c.146A>C
n.338A>C
c.493A>C (p.Ile165Leu)
9g.127663277A>GCA374933046STXBP1c.460A>G (p.Ile154Val)
c.502A>G (p.Ile168Val)
c.*144A>G (n.*144A>G)
c.*1366A>G (n.*1366A>G)
c.444A>G
c.146A>G
n.338A>G
c.493A>G (p.Ile165Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127663277A>TCA374933047STXBP1c.460A>T (p.Ile154Leu)
c.502A>T (p.Ile168Leu)
c.*144A>T (n.*144A>T)
c.*1366A>T (n.*1366A>T)
c.444A>T
c.146A>T
n.338A>T
c.493A>T (p.Ile165Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.127663278T>ACA374933048STXBP1c.461T>A (p.Ile154Lys)
c.503T>A (p.Ile168Lys)
c.*145T>A (n.*145T>A)
c.*1367T>A (n.*1367T>A)
c.445T>A
c.147T>A
n.339T>A
c.494T>A (p.Ile165Lys)
9g.127663278T>CCA200263172STXBP1c.461T>C (p.Ile154Thr)
c.503T>C (p.Ile168Thr)
c.*145T>C (n.*145T>C)
c.*1367T>C (n.*1367T>C)
c.445T>C
c.147T>C
n.339T>C
c.494T>C (p.Ile165Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.127663278T>GCA374933049STXBP1c.461T>G (p.Ile154Arg)
c.503T>G (p.Ile168Arg)
c.*145T>G (n.*145T>G)
c.*1367T>G (n.*1367T>G)
c.445T>G
c.147T>G
n.339T>G
c.494T>G (p.Ile165Arg)
9g.127663278T=CA1879908353STXBP1c.461T= (p.Ile154=)
c.503T= (p.Ile168=)
c.*145T= (n.*145T=)
c.*1367T= (n.*1367T=)
c.445T=
c.147T=
n.339T=
c.494T= (p.Ile165=)
9g.127663279A=CA1879908357STXBP1c.462A= (p.Ile154=)
c.504A= (p.Ile168=)
c.*146A= (n.*146A=)
c.*1368A= (n.*1368A=)
c.446A=
c.148A=
n.340A=
c.495A= (p.Ile165=)
9g.127663279A>CCA467222985STXBP1c.462A>C (p.Ile154=)
c.504A>C (p.Ile168=)
c.*146A>C (n.*146A>C)
c.*1368A>C (n.*1368A>C)
c.446A>C
c.148A>C
n.340A>C
c.495A>C (p.Ile165=)
9g.127663279A>GCA5248322STXBP1c.462A>G (p.Ile154Met)
c.504A>G (p.Ile168Met)
c.*146A>G (n.*146A>G)
c.*1368A>G (n.*1368A>G)
c.446A>G
c.148A>G
n.340A>G
c.495A>G (p.Ile165Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127663279A>TCA467222988STXBP1c.462A>T (p.Ile154=)
c.504A>T (p.Ile168=)
c.*146A>T (n.*146A>T)
c.*1368A>T (n.*1368A>T)
c.446A>T
c.148A>T
n.340A>T
c.495A>T (p.Ile165=)
9g.127663280C>ACA374933051STXBP1c.463C>A (p.Leu155Met)
c.505C>A (p.Leu169Met)
c.*147C>A (n.*147C>A)
c.*1369C>A (n.*1369C>A)
c.447C>A
c.149C>A
n.341C>A
c.496C>A (p.Leu166Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127663280C=CA1879908360STXBP1c.463C= (p.Leu155=)
c.505C= (p.Leu169=)
c.*147C= (n.*147C=)
c.*1369C= (n.*1369C=)
c.447C=
c.149C=
n.341C=
c.496C= (p.Leu166=)
9g.127663280C>GCA374933050STXBP1c.463C>G (p.Leu155Val)
c.505C>G (p.Leu169Val)
c.*147C>G (n.*147C>G)
c.*1369C>G (n.*1369C>G)
c.447C>G
c.149C>G
n.341C>G
c.496C>G (p.Leu166Val)
9g.127663280C>TCA467222992STXBP1c.463C>T (p.Leu155=)
c.505C>T (p.Leu169=)
c.*147C>T (n.*147C>T)
c.*1369C>T (n.*1369C>T)
c.447C>T
c.149C>T
n.341C>T
c.496C>T (p.Leu166=)
9g.127663281T>ACA374933054STXBP1c.464T>A (p.Leu155Gln)
c.506T>A (p.Leu169Gln)
c.*148T>A (n.*148T>A)
c.*1370T>A (n.*1370T>A)
c.448T>A
c.150T>A
n.342T>A
c.497T>A (p.Leu166Gln)
9g.127663281T>CCA374933052STXBP1c.464T>C (p.Leu155Pro)
c.506T>C (p.Leu169Pro)
c.*148T>C (n.*148T>C)
c.*1370T>C (n.*1370T>C)
c.448T>C
c.150T>C
n.342T>C
c.497T>C (p.Leu166Pro)
 gnomAD v4
9g.127663281T>GCA374933053STXBP1c.464T>G (p.Leu155Arg)
c.506T>G (p.Leu169Arg)
c.*148T>G (n.*148T>G)
c.*1370T>G (n.*1370T>G)
c.448T>G
c.150T>G
n.342T>G
c.497T>G (p.Leu166Arg)
9g.127663282G>ACA467223000STXBP1c.465G>A (p.Leu155=)
c.507G>A (p.Leu169=)
c.*149G>A (n.*149G>A)
c.*1371G>A (n.*1371G>A)
c.449G>A
c.151G>A
n.343G>A
c.498G>A (p.Leu166=)
9g.127663282G>CCA467223002STXBP1c.465G>C (p.Leu155=)
c.507G>C (p.Leu169=)
c.*149G>C (n.*149G>C)
c.*1371G>C (n.*1371G>C)
c.449G>C
c.151G>C
n.343G>C
c.498G>C (p.Leu166=)
9g.127663282G>TCA467223004STXBP1c.465G>T (p.Leu155=)
c.507G>T (p.Leu169=)
c.*149G>T (n.*149G>T)
c.*1371G>T (n.*1371G>T)
c.449G>T
c.151G>T
n.343G>T
c.498G>T (p.Leu166=)
9g.127663283G>ACA374933055STXBP1c.466G>A (p.Glu156Lys)
c.508G>A (p.Glu170Lys)
c.*150G>A (n.*150G>A)
c.*1372G>A (n.*1372G>A)
c.450G>A
c.152G>A
n.344G>A
c.499G>A (p.Glu167Lys)
9g.127663283G>CCA374933056STXBP1c.466G>C (p.Glu156Gln)
c.508G>C (p.Glu170Gln)
c.*150G>C (n.*150G>C)
c.*1372G>C (n.*1372G>C)
c.450G>C
c.152G>C
n.344G>C
c.499G>C (p.Glu167Gln)
9g.127663283G>TCA374933057STXBP1c.466G>T (p.Glu156Ter)
c.508G>T (p.Glu170Ter)
c.*150G>T (n.*150G>T)
c.*1372G>T (n.*1372G>T)
c.450G>T
c.152G>T
n.344G>T
c.499G>T (p.Glu167Ter)
9g.127663284A>CCA374933058STXBP1c.467A>C (p.Glu156Ala)
c.509A>C (p.Glu170Ala)
c.*151A>C (n.*151A>C)
c.*1373A>C (n.*1373A>C)
c.451A>C
c.153A>C
n.345A>C
c.500A>C (p.Glu167Ala)
9g.127663284A>GCA374933059STXBP1c.467A>G (p.Glu156Gly)
c.509A>G (p.Glu170Gly)
c.*151A>G (n.*151A>G)
c.*1373A>G (n.*1373A>G)
c.451A>G
c.153A>G
n.345A>G
c.500A>G (p.Glu167Gly)
9g.127663284A>TCA374933060STXBP1c.467A>T (p.Glu156Val)
c.509A>T (p.Glu170Val)
c.*151A>T (n.*151A>T)
c.*1373A>T (n.*1373A>T)
c.451A>T
c.153A>T
n.345A>T
c.500A>T (p.Glu167Val)
9g.127663284_127663286delinsAGCCA1879908362STXBP1c.467_469delinsAGC (p.Glu156=)
c.509_511delinsAGC (p.Glu170=)
c.*151_*153delinsAGC (n.*151_*153delinsAGC)
c.*1373_*1375delinsAGC (n.*1373_*1375delinsAGC)
c.451_453delinsAGC
c.153_155delinsAGC
n.345_347delinsAGC
c.500_502delinsAGC (p.Glu167=)
9g.127663285G>ACA467223012STXBP1c.468G>A (p.Glu156=)
c.510G>A (p.Glu170=)
c.*152G>A (n.*152G>A)
c.*1374G>A (n.*1374G>A)
c.452G>A
c.154G>A
n.346G>A
c.501G>A (p.Glu167=)
 ClinVar dbSNP
9g.127663285G>CCA374933061STXBP1c.468G>C (p.Glu156Asp)
c.510G>C (p.Glu170Asp)
c.*152G>C (n.*152G>C)
c.*1374G>C (n.*1374G>C)
c.452G>C
c.154G>C
n.346G>C
c.501G>C (p.Glu167Asp)
9g.127663285G=CA1879908366STXBP1c.468G= (p.Glu156=)
c.510G= (p.Glu170=)
c.*152G= (n.*152G=)
c.*1374G= (n.*1374G=)
c.452G=
c.154G=
n.346G=
c.501G= (p.Glu167=)
9g.127663285G>TCA374933062STXBP1c.468G>T (p.Glu156Asp)
c.510G>T (p.Glu170Asp)
c.*152G>T (n.*152G>T)
c.*1374G>T (n.*1374G>T)
c.452G>T
c.154G>T
n.346G>T
c.501G>T (p.Glu167Asp)
9g.127663287_127663288delCA1139661182STXBP1c.470_471del (p.Arg157ProfsTer?)
c.512_513del (p.Arg171ProfsTer?)
c.*154_*155del (n.*154_*155del)
c.*1376_*1377del (n.*1376_*1377del)
c.454_455del
c.156_157del
n.348_349del
c.503_504del (p.Arg168ProfsTer?)
 ClinVar dbSNP
9g.127663286C>ACA374933063STXBP1c.469C>A (p.Arg157Ser)
c.511C>A (p.Arg171Ser)
c.*153C>A (n.*153C>A)
c.*1375C>A (n.*1375C>A)
c.453C>A
c.155C>A
n.347C>A
c.502C>A (p.Arg168Ser)
9g.127663286C=CA1879908370STXBP1c.469C= (p.Arg157=)
c.511C= (p.Arg171=)
c.*153C= (n.*153C=)
c.*1375C= (n.*1375C=)
c.453C=
c.155C=
n.347C=
c.502C= (p.Arg168=)
9g.127663286C>GCA374933064STXBP1c.469C>G (p.Arg157Gly)
c.511C>G (p.Arg171Gly)
c.*153C>G (n.*153C>G)
c.*1375C>G (n.*1375C>G)
c.453C>G
c.155C>G
n.347C>G
c.502C>G (p.Arg168Gly)
9g.127663286C>TCA5248323STXBP1c.469C>T (p.Arg157Cys)
c.511C>T (p.Arg171Cys)
c.*153C>T (n.*153C>T)
c.*1375C>T (n.*1375C>T)
c.453C>T
c.155C>T
n.347C>T
c.502C>T (p.Arg168Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127663287G>ACA5248324STXBP1c.470G>A (p.Arg157His)
c.512G>A (p.Arg171His)
c.*154G>A (n.*154G>A)
c.*1376G>A (n.*1376G>A)
c.454G>A
c.156G>A
n.348G>A
c.503G>A (p.Arg168His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127663287G>CCA374933065STXBP1c.470G>C (p.Arg157Pro)
c.512G>C (p.Arg171Pro)
c.*154G>C (n.*154G>C)
c.*1376G>C (n.*1376G>C)
c.454G>C
c.156G>C
n.348G>C
c.503G>C (p.Arg168Pro)
9g.127663287G=CA1879908376STXBP1c.470G= (p.Arg157=)
c.512G= (p.Arg171=)
c.*154G= (n.*154G=)
c.*1376G= (n.*1376G=)
c.454G=
c.156G=
n.348G=
c.503G= (p.Arg168=)
9g.127663287G>TCA374933066STXBP1c.470G>T (p.Arg157Leu)
c.512G>T (p.Arg171Leu)
c.*154G>T (n.*154G>T)
c.*1376G>T (n.*1376G>T)
c.454G>T
c.156G>T
n.348G>T
c.503G>T (p.Arg168Leu)
9g.127663288C>ACA467223026STXBP1c.471C>A (p.Arg157=)
c.513C>A (p.Arg171=)
c.*155C>A (n.*155C>A)
c.*1377C>A (n.*1377C>A)
c.455C>A
c.157C>A
n.349C>A
c.504C>A (p.Arg168=)
9g.127663288C>GCA467223028STXBP1c.471C>G (p.Arg157=)
c.513C>G (p.Arg171=)
c.*155C>G (n.*155C>G)
c.*1377C>G (n.*1377C>G)
c.455C>G
c.157C>G
n.349C>G
c.504C>G (p.Arg168=)
9g.127663288C>TCA467223030STXBP1c.471C>T (p.Arg157=)
c.513C>T (p.Arg171=)
c.*155C>T (n.*155C>T)
c.*1377C>T (n.*1377C>T)
c.455C>T
c.157C>T
n.349C>T
c.504C>T (p.Arg168=)
9g.127663289C>ACA374933067STXBP1c.472C>A (p.Leu158Met)
c.514C>A (p.Leu172Met)
c.*156C>A (n.*156C>A)
c.*1378C>A (n.*1378C>A)
c.456C>A
c.158C>A
n.350C>A
c.505C>A (p.Leu169Met)
9g.127663289C>GCA374933068STXBP1c.472C>G (p.Leu158Val)
c.514C>G (p.Leu172Val)
c.*156C>G (n.*156C>G)
c.*1378C>G (n.*1378C>G)
c.456C>G
c.158C>G
n.350C>G
c.505C>G (p.Leu169Val)
9g.127663289C>TCA467223036STXBP1c.472C>T (p.Leu158=)
c.514C>T (p.Leu172=)
c.*156C>T (n.*156C>T)
c.*1378C>T (n.*1378C>T)
c.456C>T
c.158C>T
n.350C>T
c.505C>T (p.Leu169=)
9g.127663290T>ACA374933069STXBP1c.473T>A (p.Leu158Gln)
c.515T>A (p.Leu172Gln)
c.*157T>A (n.*157T>A)
c.*1379T>A (n.*1379T>A)
c.457T>A
c.159T>A
n.351T>A
c.506T>A (p.Leu169Gln)
9g.127663290T>CCA374933070STXBP1c.473T>C (p.Leu158Pro)
c.515T>C (p.Leu172Pro)
c.*157T>C (n.*157T>C)
c.*1379T>C (n.*1379T>C)
c.457T>C
c.159T>C
n.351T>C
c.506T>C (p.Leu169Pro)
9g.127663290T>GCA374933071STXBP1c.473T>G (p.Leu158Arg)
c.515T>G (p.Leu172Arg)
c.*157T>G (n.*157T>G)
c.*1379T>G (n.*1379T>G)
c.457T>G
c.159T>G
n.351T>G
c.506T>G (p.Leu169Arg)
9g.127663291G>ACA467223047STXBP1c.474G>A (p.Leu158=)
c.516G>A (p.Leu172=)
c.*158G>A (n.*158G>A)
c.*1380G>A (n.*1380G>A)
c.458G>A
c.160G>A
n.352G>A
c.507G>A (p.Leu169=)
9g.127663291G>CCA467223040STXBP1c.474G>C (p.Leu158=)
c.516G>C (p.Leu172=)
c.*158G>C (n.*158G>C)
c.*1380G>C (n.*1380G>C)
c.458G>C
c.160G>C
n.352G>C
c.507G>C (p.Leu169=)
9g.127663291G>TCA467223044STXBP1c.474G>T (p.Leu158=)
c.516G>T (p.Leu172=)
c.*158G>T (n.*158G>T)
c.*1380G>T (n.*1380G>T)
c.458G>T
c.160G>T
n.352G>T
c.507G>T (p.Leu169=)
9g.127663292G>ACA374933072STXBP1c.475G>A (p.Ala159Thr)
c.517G>A (p.Ala173Thr)
c.*159G>A (n.*159G>A)
c.*1381G>A (n.*1381G>A)
c.459G>A
c.161G>A
n.353G>A
c.508G>A (p.Ala170Thr)
9g.127663292G>CCA374933073STXBP1c.475G>C (p.Ala159Pro)
c.517G>C (p.Ala173Pro)
c.*159G>C (n.*159G>C)
c.*1381G>C (n.*1381G>C)
c.459G>C
c.161G>C
n.353G>C
c.508G>C (p.Ala170Pro)
9g.127663292G>TCA374933074STXBP1c.475G>T (p.Ala159Ser)
c.517G>T (p.Ala173Ser)
c.*159G>T (n.*159G>T)
c.*1381G>T (n.*1381G>T)
c.459G>T
c.161G>T
n.353G>T
c.508G>T (p.Ala170Ser)
9g.127663293C>ACA374933075STXBP1c.476C>A (p.Ala159Glu)
c.518C>A (p.Ala173Glu)
c.*160C>A (n.*160C>A)
c.*1382C>A (n.*1382C>A)
c.460C>A
c.162C>A
n.354C>A
c.509C>A (p.Ala170Glu)
9g.127663293C>GCA374933076STXBP1c.476C>G (p.Ala159Gly)
c.518C>G (p.Ala173Gly)
c.*160C>G (n.*160C>G)
c.*1382C>G (n.*1382C>G)
c.460C>G
c.162C>G
n.354C>G
c.509C>G (p.Ala170Gly)
9g.127663293C>TCA374933077STXBP1c.476C>T (p.Ala159Val)
c.518C>T (p.Ala173Val)
c.*160C>T (n.*160C>T)
c.*1382C>T (n.*1382C>T)
c.460C>T
c.162C>T
n.354C>T
c.509C>T (p.Ala170Val)
 gnomAD v4
9g.127663294A>CCA467223050STXBP1c.477A>C (p.Ala159=)
c.519A>C (p.Ala173=)
c.*161A>C (n.*161A>C)
c.*1383A>C (n.*1383A>C)
c.461A>C
c.163A>C
n.355A>C
c.510A>C (p.Ala170=)
9g.127663294A>GCA467223051STXBP1c.477A>G (p.Ala159=)
c.519A>G (p.Ala173=)
c.*161A>G (n.*161A>G)
c.*1383A>G (n.*1383A>G)
c.461A>G
c.163A>G
n.355A>G
c.510A>G (p.Ala170=)
9g.127663294A>TCA467223052STXBP1c.477A>T (p.Ala159=)
c.519A>T (p.Ala173=)
c.*161A>T (n.*161A>T)
c.*1383A>T (n.*1383A>T)
c.461A>T
c.163A>T
n.355A>T
c.510A>T (p.Ala170=)
9g.127663295delCA2573144050STXBP1c.478del (p.Glu160SerfsTer10)
c.520del (p.Glu174SerfsTer10)
c.*162del (n.*162del)
c.*1384del (n.*1384del)
c.462del
c.164del
n.356del
c.511del (p.Glu171SerfsTer10)
 ClinVar dbSNP
9g.127663295G>ACA374933080STXBP1c.478G>A (p.Glu160Lys)
c.520G>A (p.Glu174Lys)
c.*162G>A (n.*162G>A)
c.*1384G>A (n.*1384G>A)
c.462G>A
c.164G>A
n.356G>A
c.511G>A (p.Glu171Lys)
9g.127663295G>CCA374933079STXBP1c.478G>C (p.Glu160Gln)
c.520G>C (p.Glu174Gln)
c.*162G>C (n.*162G>C)
c.*1384G>C (n.*1384G>C)
c.462G>C
c.164G>C
n.356G>C
c.511G>C (p.Glu171Gln)
9g.127663295G>TCA374933078STXBP1c.478G>T (p.Glu160Ter)
c.520G>T (p.Glu174Ter)
c.*162G>T (n.*162G>T)
c.*1384G>T (n.*1384G>T)
c.462G>T
c.164G>T
n.356G>T
c.511G>T (p.Glu171Ter)
9g.127663296A>CCA374933081STXBP1c.479A>C (p.Glu160Ala)
c.521A>C (p.Glu174Ala)
c.*163A>C (n.*163A>C)
c.*1385A>C (n.*1385A>C)
c.463A>C
c.165A>C
n.357A>C
c.512A>C (p.Glu171Ala)
9g.127663296A>GCA374933082STXBP1c.479A>G (p.Glu160Gly)
c.521A>G (p.Glu174Gly)
c.*163A>G (n.*163A>G)
c.*1385A>G (n.*1385A>G)
c.463A>G
c.165A>G
n.357A>G
c.512A>G (p.Glu171Gly)
9g.127663296A>TCA374933083STXBP1c.479A>T (p.Glu160Val)
c.521A>T (p.Glu174Val)
c.*163A>T (n.*163A>T)
c.*1385A>T (n.*1385A>T)
c.463A>T
c.165A>T
n.357A>T
c.512A>T (p.Glu171Val)
9g.127663297G>ACA467223060STXBP1c.480G>A (p.Glu160=)
c.522G>A (p.Glu174=)
c.*164G>A (n.*164G>A)
c.*1386G>A (n.*1386G>A)
c.464G>A
c.166G>A
n.358G>A
c.513G>A (p.Glu171=)
 gnomAD v4
9g.127663297G>CCA374933084STXBP1c.480G>C (p.Glu160Asp)
c.522G>C (p.Glu174Asp)
c.*164G>C (n.*164G>C)
c.*1386G>C (n.*1386G>C)
c.464G>C
c.166G>C
n.358G>C
c.513G>C (p.Glu171Asp)
9g.127663297G>TCA374933085STXBP1c.480G>T (p.Glu160Asp)
c.522G>T (p.Glu174Asp)
c.*164G>T (n.*164G>T)
c.*1386G>T (n.*1386G>T)
c.464G>T
c.166G>T
n.358G>T
c.513G>T (p.Glu171Asp)
9g.127663298C>ACA374933086STXBP1c.481C>A (p.Gln161Lys)
c.523C>A (p.Gln175Lys)
c.*165C>A (n.*165C>A)
c.*1387C>A (n.*1387C>A)
c.465C>A
c.167C>A
n.359C>A
c.514C>A (p.Gln172Lys)
9g.127663298C>GCA374933087STXBP1c.481C>G (p.Gln161Glu)
c.523C>G (p.Gln175Glu)
c.*165C>G (n.*165C>G)
c.*1387C>G (n.*1387C>G)
c.465C>G
c.167C>G
n.359C>G
c.514C>G (p.Gln172Glu)
9g.127663298C>TCA374933088STXBP1c.481C>T (p.Gln161Ter)
c.523C>T (p.Gln175Ter)
c.*165C>T (n.*165C>T)
c.*1387C>T (n.*1387C>T)
c.465C>T
c.167C>T
n.359C>T
c.514C>T (p.Gln172Ter)
9g.127663299A>CCA374933089STXBP1c.482A>C (p.Gln161Pro)
c.524A>C (p.Gln175Pro)
c.*166A>C (n.*166A>C)
c.*1388A>C (n.*1388A>C)
c.466A>C
c.168A>C
n.360A>C
c.515A>C (p.Gln172Pro)
 ClinVar
9g.127663299A>GCA374933090STXBP1c.482A>G (p.Gln161Arg)
c.524A>G (p.Gln175Arg)
c.*166A>G (n.*166A>G)
c.*1388A>G (n.*1388A>G)
c.466A>G
c.168A>G
n.360A>G
c.515A>G (p.Gln172Arg)
9g.127663299A>TCA374933091STXBP1c.482A>T (p.Gln161Leu)
c.524A>T (p.Gln175Leu)
c.*166A>T (n.*166A>T)
c.*1388A>T (n.*1388A>T)
c.466A>T
c.168A>T
n.360A>T
c.515A>T (p.Gln172Leu)
9g.127663300delCA2695211193STXBP1c.483del (p.Ile162SerfsTer8)
c.525del (p.Ile176SerfsTer8)
c.*167del (n.*167del)
c.*1389del (n.*1389del)
c.467del
c.169del
n.361del
c.516del (p.Ile173SerfsTer8)
9g.127663300G>ACA467223071STXBP1c.483G>A (p.Gln161=)
c.525G>A (p.Gln175=)
c.*167G>A (n.*167G>A)
c.*1389G>A (n.*1389G>A)
c.467G>A
c.169G>A
n.361G>A
c.516G>A (p.Gln172=)
 gnomAD v4
9g.127663300G>CCA374933092STXBP1c.483G>C (p.Gln161His)
c.525G>C (p.Gln175His)
c.*167G>C (n.*167G>C)
c.*1389G>C (n.*1389G>C)
c.467G>C
c.169G>C
n.361G>C
c.516G>C (p.Gln172His)
9g.127663300G>TCA374933093STXBP1c.483G>T (p.Gln161His)
c.525G>T (p.Gln175His)
c.*167G>T (n.*167G>T)
c.*1389G>T (n.*1389G>T)
c.467G>T
c.169G>T
n.361G>T
c.516G>T (p.Gln172His)
 ClinVar dbSNP
9g.127663301A>CCA374933096STXBP1c.484A>C (p.Ile162Leu)
c.526A>C (p.Ile176Leu)
c.*168A>C (n.*168A>C)
c.*1390A>C (n.*1390A>C)
c.468A>C
c.170A>C
n.362A>C
c.517A>C (p.Ile173Leu)
9g.127663301A>GCA374933094STXBP1c.484A>G (p.Ile162Val)
c.526A>G (p.Ile176Val)
c.*168A>G (n.*168A>G)
c.*1390A>G (n.*1390A>G)
c.468A>G
c.170A>G
n.362A>G
c.517A>G (p.Ile173Val)
9g.127663301A>TCA374933095STXBP1c.484A>T (p.Ile162Phe)
c.526A>T (p.Ile176Phe)
c.*168A>T (n.*168A>T)
c.*1390A>T (n.*1390A>T)
c.468A>T
c.170A>T
n.362A>T
c.517A>T (p.Ile173Phe)
 ClinVar dbSNP gnomAD v4
9g.127663302T>ACA374933097STXBP1c.485T>A (p.Ile162Asn)
c.527T>A (p.Ile176Asn)
c.*169T>A (n.*169T>A)
c.*1391T>A (n.*1391T>A)
c.469T>A
c.171T>A
n.363T>A
c.518T>A (p.Ile173Asn)
9g.127663302T>CCA374933098STXBP1c.485T>C (p.Ile162Thr)
c.527T>C (p.Ile176Thr)
c.*169T>C (n.*169T>C)
c.*1391T>C (n.*1391T>C)
c.469T>C
c.171T>C
n.363T>C
c.518T>C (p.Ile173Thr)
 dbSNP
9g.127663302T>GCA374933099STXBP1c.485T>G (p.Ile162Ser)
c.527T>G (p.Ile176Ser)
c.*169T>G (n.*169T>G)
c.*1391T>G (n.*1391T>G)
c.469T>G
c.171T>G
n.363T>G
c.518T>G (p.Ile173Ser)
9g.127663302T=CA1879908378STXBP1c.485T= (p.Ile162=)
c.527T= (p.Ile176=)
c.*169T= (n.*169T=)
c.*1391T= (n.*1391T=)
c.469T=
c.171T=
n.363T=
c.518T= (p.Ile173=)
9g.127663303C>ACA467223079STXBP1c.486C>A (p.Ile162=)
c.528C>A (p.Ile176=)
c.*170C>A (n.*170C>A)
c.*1392C>A (n.*1392C>A)
c.470C>A
c.172C>A
n.364C>A
c.519C>A (p.Ile173=)
9g.127663303C=CA1879908380STXBP1c.486C= (p.Ile162=)
c.528C= (p.Ile176=)
c.*170C= (n.*170C=)
c.*1392C= (n.*1392C=)
c.470C=
c.172C=
n.364C=
c.519C= (p.Ile173=)
9g.127663303C>GCA374933100STXBP1c.486C>G (p.Ile162Met)
c.528C>G (p.Ile176Met)
c.*170C>G (n.*170C>G)
c.*1392C>G (n.*1392C>G)
c.470C>G
c.172C>G
n.364C>G
c.519C>G (p.Ile173Met)
9g.127663303C>TCA5248325STXBP1c.486C>T (p.Ile162=)
c.528C>T (p.Ile176=)
c.*170C>T (n.*170C>T)
c.*1392C>T (n.*1392C>T)
c.470C>T
c.172C>T
n.364C>T
c.519C>T (p.Ile173=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127663304G>ACA374933101STXBP1c.487G>A (p.Ala163Thr)
c.529G>A (p.Ala177Thr)
c.*171G>A (n.*171G>A)
c.*1393G>A (n.*1393G>A)
c.471G>A
c.173G>A
n.365G>A
c.520G>A (p.Ala174Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.127663304G>CCA374933102STXBP1c.487G>C (p.Ala163Pro)
c.529G>C (p.Ala177Pro)
c.*171G>C (n.*171G>C)
c.*1393G>C (n.*1393G>C)
c.471G>C
c.173G>C
n.365G>C
c.520G>C (p.Ala174Pro)
9g.127663304G=CA1879908382STXBP1c.487G= (p.Ala163=)
c.529G= (p.Ala177=)
c.*171G= (n.*171G=)
c.*1393G= (n.*1393G=)
c.471G=
c.173G=
n.365G=
c.520G= (p.Ala174=)
9g.127663304G>TCA374933103STXBP1c.487G>T (p.Ala163Ser)
c.529G>T (p.Ala177Ser)
c.*171G>T (n.*171G>T)
c.*1393G>T (n.*1393G>T)
c.471G>T
c.173G>T
n.365G>T
c.520G>T (p.Ala174Ser)
9g.127663305C>ACA374933104STXBP1c.488C>A (p.Ala163Glu)
c.530C>A (p.Ala177Glu)
c.*172C>A (n.*172C>A)
c.*1394C>A (n.*1394C>A)
c.472C>A
c.174C>A
n.366C>A
c.521C>A (p.Ala174Glu)
9g.127663305C>GCA374933105STXBP1c.488C>G (p.Ala163Gly)
c.530C>G (p.Ala177Gly)
c.*172C>G (n.*172C>G)
c.*1394C>G (n.*1394C>G)
c.472C>G
c.174C>G
n.366C>G
c.521C>G (p.Ala174Gly)
9g.127663305C>TCA374933106STXBP1c.488C>T (p.Ala163Val)
c.530C>T (p.Ala177Val)
c.*172C>T (n.*172C>T)
c.*1394C>T (n.*1394C>T)
c.472C>T
c.174C>T
n.366C>T
c.521C>T (p.Ala174Val)
 ClinVar gnomAD v4
9g.127663306G>ACA16605471STXBP1c.489G>A (p.Ala163=)
c.531G>A (p.Ala177=)
c.*173G>A (n.*173G>A)
c.*1395G>A (n.*1395G>A)
c.473G>A
c.175G>A
n.367G>A
c.522G>A (p.Ala174=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127663306G>CCA467223087STXBP1c.489G>C (p.Ala163=)
c.531G>C (p.Ala177=)
c.*173G>C (n.*173G>C)
c.*1395G>C (n.*1395G>C)
c.473G>C
c.175G>C
n.367G>C
c.522G>C (p.Ala174=)
9g.127663306G=CA1879908385STXBP1c.489G= (p.Ala163=)
c.531G= (p.Ala177=)
c.*173G= (n.*173G=)
c.*1395G= (n.*1395G=)
c.473G=
c.175G=
n.367G=
c.522G= (p.Ala174=)
9g.127663306G>TCA467223086STXBP1c.489G>T (p.Ala163=)
c.531G>T (p.Ala177=)
c.*173G>T (n.*173G>T)
c.*1395G>T (n.*1395G>T)
c.473G>T
c.175G>T
n.367G>T
c.522G>T (p.Ala174=)
9g.127663307A>CCA374933109STXBP1c.490A>C (p.Thr164Pro)
c.532A>C (p.Thr178Pro)
c.*174A>C (n.*174A>C)
c.*1396A>C (n.*1396A>C)
c.474A>C
c.176A>C
n.368A>C
c.523A>C (p.Thr175Pro)
9g.127663307A>GCA374933108STXBP1c.490A>G (p.Thr164Ala)
c.532A>G (p.Thr178Ala)
c.*174A>G (n.*174A>G)
c.*1396A>G (n.*1396A>G)
c.474A>G
c.176A>G
n.368A>G
c.523A>G (p.Thr175Ala)
9g.127663307A>TCA374933107STXBP1c.490A>T (p.Thr164Ser)
c.532A>T (p.Thr178Ser)
c.*174A>T (n.*174A>T)
c.*1396A>T (n.*1396A>T)
c.474A>T
c.176A>T
n.368A>T
c.523A>T (p.Thr175Ser)
9g.127663308C>ACA374933110STXBP1c.491C>A (p.Thr164Asn)
c.533C>A (p.Thr178Asn)
c.*175C>A (n.*175C>A)
c.*1397C>A (n.*1397C>A)
c.475C>A
c.177C>A
n.369C>A
c.524C>A (p.Thr175Asn)
9g.127663308C=CA1879908390STXBP1c.491C= (p.Thr164=)
c.533C= (p.Thr178=)
c.*175C= (n.*175C=)
c.*1397C= (n.*1397C=)
c.475C=
c.177C=
n.369C=
c.524C= (p.Thr175=)
9g.127663308C>GCA374933112STXBP1c.491C>G (p.Thr164Ser)
c.533C>G (p.Thr178Ser)
c.*175C>G (n.*175C>G)
c.*1397C>G (n.*1397C>G)
c.475C>G
c.177C>G
n.369C>G
c.524C>G (p.Thr175Ser)
9g.127663308C>TCA374933111STXBP1c.491C>T (p.Thr164Ile)
c.533C>T (p.Thr178Ile)
c.*175C>T (n.*175C>T)
c.*1397C>T (n.*1397C>T)
c.475C>T
c.177C>T
n.369C>T
c.524C>T (p.Thr175Ile)
 ClinVar dbSNP
9g.127663309C>ACA467223089STXBP1c.492C>A (p.Thr164=)
c.534C>A (p.Thr178=)
c.*176C>A (n.*176C>A)
c.*1398C>A (n.*1398C>A)
c.476C>A
c.178C>A
n.370C>A
c.525C>A (p.Thr175=)
9g.127663309C>GCA467223091STXBP1c.492C>G (p.Thr164=)
c.534C>G (p.Thr178=)
c.*176C>G (n.*176C>G)
c.*1398C>G (n.*1398C>G)
c.476C>G
c.178C>G
n.370C>G
c.525C>G (p.Thr175=)
9g.127663309C>TCA467223092STXBP1c.492C>T (p.Thr164=)
c.534C>T (p.Thr178=)
c.*176C>T (n.*176C>T)
c.*1398C>T (n.*1398C>T)
c.476C>T
c.178C>T
n.370C>T
c.525C>T (p.Thr175=)
 dbSNP gnomAD v4
9g.127663310C>ACA374933113STXBP1c.493C>A (p.Leu165Ile)
c.535C>A (p.Leu179Ile)
c.*177C>A (n.*177C>A)
c.*1399C>A (n.*1399C>A)
c.477C>A
c.179C>A
n.371C>A
c.526C>A (p.Leu176Ile)
9g.127663310C>GCA374933114STXBP1c.493C>G (p.Leu165Val)
c.535C>G (p.Leu179Val)
c.*177C>G (n.*177C>G)
c.*1399C>G (n.*1399C>G)
c.477C>G
c.179C>G
n.371C>G
c.526C>G (p.Leu176Val)
9g.127663310C>TCA374933115STXBP1c.493C>T (p.Leu165Phe)
c.535C>T (p.Leu179Phe)
c.*177C>T (n.*177C>T)
c.*1399C>T (n.*1399C>T)
c.477C>T
c.179C>T
n.371C>T
c.526C>T (p.Leu176Phe)
9g.127663311T>ACA374933116STXBP1c.494T>A (p.Leu165His)
c.536T>A (p.Leu179His)
c.*178T>A (n.*178T>A)
c.*1400T>A (n.*1400T>A)
c.478T>A
c.180T>A
n.372T>A
c.527T>A (p.Leu176His)
 ClinVar dbSNP
9g.127663311T>CCA374933117STXBP1c.494T>C (p.Leu165Pro)
c.536T>C (p.Leu179Pro)
c.*178T>C (n.*178T>C)
c.*1400T>C (n.*1400T>C)
c.478T>C
c.180T>C
n.372T>C
c.527T>C (p.Leu176Pro)
9g.127663311T>GCA374933123STXBP1c.494T>G (p.Leu165Arg)
c.536T>G (p.Leu179Arg)
c.*178T>G (n.*178T>G)
c.*1400T>G (n.*1400T>G)
c.478T>G
c.180T>G
n.372T>G
c.527T>G (p.Leu176Arg)
9g.127663312T>ACA467223096STXBP1c.495T>A (p.Leu165=)
c.537T>A (p.Leu179=)
c.*179T>A (n.*179T>A)
c.*1401T>A (n.*1401T>A)
c.479T>A
c.181T>A
n.373T>A
c.528T>A (p.Leu176=)
9g.127663312T>CCA467223097STXBP1c.495T>C (p.Leu165=)
c.537T>C (p.Leu179=)
c.*179T>C (n.*179T>C)
c.*1401T>C (n.*1401T>C)
c.479T>C
c.181T>C
n.373T>C
c.528T>C (p.Leu176=)
9g.127663312T>GCA467223098STXBP1c.495T>G (p.Leu165=)
c.537T>G (p.Leu179=)
c.*179T>G (n.*179T>G)
c.*1401T>G (n.*1401T>G)
c.479T>G
c.181T>G
n.373T>G
c.528T>G (p.Leu176=)
9g.127663313T>ACA374933125STXBP1c.496T>A (p.Cys166Ser)
c.538T>A (p.Cys180Ser)
c.*180T>A (n.*180T>A)
c.*1402T>A (n.*1402T>A)
c.480T>A
c.182T>A
n.374T>A
c.529T>A (p.Cys177Ser)
9g.127663313T>CCA374933127STXBP1c.496T>C (p.Cys166Arg)
c.538T>C (p.Cys180Arg)
c.*180T>C (n.*180T>C)
c.*1402T>C (n.*1402T>C)
c.480T>C
c.182T>C
n.374T>C
c.529T>C (p.Cys177Arg)
9g.127663313T>GCA374933128STXBP1c.496T>G (p.Cys166Gly)
c.538T>G (p.Cys180Gly)
c.*180T>G (n.*180T>G)
c.*1402T>G (n.*1402T>G)
c.480T>G
c.182T>G
n.374T>G
c.529T>G (p.Cys177Gly)
9g.127663314G>ACA118450STXBP1c.497G>A (p.Cys166Tyr)
c.539G>A (p.Cys180Tyr)
c.*181G>A (n.*181G>A)
c.*1403G>A (n.*1403G>A)
c.481G>A
c.183G>A
n.375G>A
c.530G>A (p.Cys177Tyr)
 ClinVar dbSNP
9g.127663314G>CCA374933131STXBP1c.497G>C (p.Cys166Ser)
c.539G>C (p.Cys180Ser)
c.*181G>C (n.*181G>C)
c.*1403G>C (n.*1403G>C)
c.481G>C
c.183G>C
n.375G>C
c.530G>C (p.Cys177Ser)
9g.127663314G=CA1879908395STXBP1c.497G= (p.Cys166=)
c.539G= (p.Cys180=)
c.*181G= (n.*181G=)
c.*1403G= (n.*1403G=)
c.481G=
c.183G=
n.375G=
c.530G= (p.Cys177=)
9g.127663314G>TCA374933134STXBP1c.497G>T (p.Cys166Phe)
c.539G>T (p.Cys180Phe)
c.*181G>T (n.*181G>T)
c.*1403G>T (n.*1403G>T)
c.481G>T
c.183G>T
n.375G>T
c.530G>T (p.Cys177Phe)
9g.127663315T>ACA374933137STXBP1c.498T>A (p.Cys166Ter)
c.540T>A (p.Cys180Ter)
c.*182T>A (n.*182T>A)
c.*1404T>A (n.*1404T>A)
c.482T>A
c.184T>A
n.376T>A
c.531T>A (p.Cys177Ter)
9g.127663315T>CCA467223109STXBP1c.498T>C (p.Cys166=)
c.540T>C (p.Cys180=)
c.*182T>C (n.*182T>C)
c.*1404T>C (n.*1404T>C)
c.482T>C
c.184T>C
n.376T>C
c.531T>C (p.Cys177=)
9g.127663315T>GCA374933135STXBP1c.498T>G (p.Cys166Trp)
c.540T>G (p.Cys180Trp)
c.*182T>G (n.*182T>G)
c.*1404T>G (n.*1404T>G)
c.482T>G
c.184T>G
n.376T>G
c.531T>G (p.Cys177Trp)
9g.127663316G>ACA5248326STXBP1c.499G>A (p.Ala167Thr)
c.541G>A (p.Ala181Thr)
c.*183G>A (n.*183G>A)
c.*1405G>A (n.*1405G>A)
c.483G>A
c.185G>A
n.377G>A
c.532G>A (p.Ala178Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127663316G>CCA374933138STXBP1c.499G>C (p.Ala167Pro)
c.541G>C (p.Ala181Pro)
c.*183G>C (n.*183G>C)
c.*1405G>C (n.*1405G>C)
c.483G>C
c.185G>C
n.377G>C
c.532G>C (p.Ala178Pro)
9g.127663316G=CA1879908397STXBP1c.499G= (p.Ala167=)
c.541G= (p.Ala181=)
c.*183G= (n.*183G=)
c.*1405G= (n.*1405G=)
c.483G=
c.185G=
n.377G=
c.532G= (p.Ala178=)
9g.127663316G>TCA374933140STXBP1c.499G>T (p.Ala167Ser)
c.541G>T (p.Ala181Ser)
c.*183G>T (n.*183G>T)
c.*1405G>T (n.*1405G>T)
c.483G>T
c.185G>T
n.377G>T
c.532G>T (p.Ala178Ser)
9g.127663317C>ACA374933142STXBP1c.500C>A (p.Ala167Asp)
c.542C>A (p.Ala181Asp)
c.*184C>A (n.*184C>A)
c.*1406C>A (n.*1406C>A)
c.484C>A
c.186C>A
n.378C>A
c.533C>A (p.Ala178Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.127663317C=CA1879908400STXBP1c.500C= (p.Ala167=)
c.542C= (p.Ala181=)
c.*184C= (n.*184C=)
c.*1406C= (n.*1406C=)
c.484C=
c.186C=
n.378C=
c.533C= (p.Ala178=)
9g.127663317C>GCA374933144STXBP1c.500C>G (p.Ala167Gly)
c.542C>G (p.Ala181Gly)
c.*184C>G (n.*184C>G)
c.*1406C>G (n.*1406C>G)
c.484C>G
c.186C>G
n.378C>G
c.533C>G (p.Ala178Gly)
9g.127663317C>TCA374933145STXBP1c.500C>T (p.Ala167Val)
c.542C>T (p.Ala181Val)
c.*184C>T (n.*184C>T)
c.*1406C>T (n.*1406C>T)
c.484C>T
c.186C>T
n.378C>T
c.533C>T (p.Ala178Val)
 gnomAD v4
9g.127663318C>ACA467223114STXBP1c.501C>A (p.Ala167=)
c.543C>A (p.Ala181=)
c.*185C>A (n.*185C>A)
c.*1407C>A (n.*1407C>A)
c.485C>A
c.187C>A
n.379C>A
c.534C>A (p.Ala178=)
9g.127663318C>GCA467223115STXBP1c.501C>G (p.Ala167=)
c.543C>G (p.Ala181=)
c.*185C>G (n.*185C>G)
c.*1407C>G (n.*1407C>G)
c.485C>G
c.187C>G
n.379C>G
c.534C>G (p.Ala178=)
9g.127663318C>TCA467223116STXBP1c.501C>T (p.Ala167=)
c.543C>T (p.Ala181=)
c.*185C>T (n.*185C>T)
c.*1407C>T (n.*1407C>T)
c.485C>T
c.187C>T
n.379C>T
c.534C>T (p.Ala178=)
 gnomAD v4
9g.127663319A>CCA374933146STXBP1c.502A>C (p.Thr168Pro)
c.544A>C (p.Thr182Pro)
c.*186A>C (n.*186A>C)
c.*1408A>C (n.*1408A>C)
c.486A>C
c.188A>C
n.380A>C
c.535A>C (p.Thr179Pro)
9g.127663319A>GCA374933148STXBP1c.502A>G (p.Thr168Ala)
c.544A>G (p.Thr182Ala)
c.*186A>G (n.*186A>G)
c.*1408A>G (n.*1408A>G)
c.486A>G
c.188A>G
n.380A>G
c.535A>G (p.Thr179Ala)
9g.127663319A>TCA374933161STXBP1c.502A>T (p.Thr168Ser)
c.544A>T (p.Thr182Ser)
c.*186A>T (n.*186A>T)
c.*1408A>T (n.*1408A>T)
c.486A>T
c.188A>T
n.380A>T
c.535A>T (p.Thr179Ser)
9g.127663320C>ACA374933164STXBP1c.503C>A (p.Thr168Asn)
c.545C>A (p.Thr182Asn)
c.*187C>A (n.*187C>A)
c.*1409C>A (n.*1409C>A)
c.487C>A
c.189C>A
n.381C>A
c.536C>A (p.Thr179Asn)
9g.127663320C>GCA374933166STXBP1c.503C>G (p.Thr168Ser)
c.545C>G (p.Thr182Ser)
c.*187C>G (n.*187C>G)
c.*1409C>G (n.*1409C>G)
c.487C>G
c.189C>G
n.381C>G
c.536C>G (p.Thr179Ser)
9g.127663320C>TCA374933169STXBP1c.503C>T (p.Thr168Ile)
c.545C>T (p.Thr182Ile)
c.*187C>T (n.*187C>T)
c.*1409C>T (n.*1409C>T)
c.487C>T
c.189C>T
n.381C>T
c.536C>T (p.Thr179Ile)
 gnomAD v4
9g.127663321C>ACA467223125STXBP1c.504C>A (p.Thr168=)
c.546C>A (p.Thr182=)
c.*188C>A (n.*188C>A)
c.*1410C>A (n.*1410C>A)
c.488C>A
c.190C>A
n.382C>A
c.537C>A (p.Thr179=)
9g.127663321C>GCA467223128STXBP1c.504C>G (p.Thr168=)
c.546C>G (p.Thr182=)
c.*188C>G (n.*188C>G)
c.*1410C>G (n.*1410C>G)
c.488C>G
c.190C>G
n.382C>G
c.537C>G (p.Thr179=)
9g.127663321C>TCA467223126STXBP1c.504C>T (p.Thr168=)
c.546C>T (p.Thr182=)
c.*188C>T (n.*188C>T)
c.*1410C>T (n.*1410C>T)
c.488C>T
c.190C>T
n.382C>T
c.537C>T (p.Thr179=)
9g.127663322C>ACA374933175STXBP1c.505C>A (p.Leu169Met)
c.547C>A (p.Leu183Met)
c.*189C>A (n.*189C>A)
c.*1411C>A (n.*1411C>A)
c.489C>A
c.191C>A
n.383C>A
c.538C>A (p.Leu180Met)
 dbSNP
9g.127663322C=CA1879908404STXBP1c.505C= (p.Leu169=)
c.547C= (p.Leu183=)
c.*189C= (n.*189C=)
c.*1411C= (n.*1411C=)
c.489C=
c.191C=
n.383C=
c.538C= (p.Leu180=)
9g.127663322C>GCA374933173STXBP1c.505C>G (p.Leu169Val)
c.547C>G (p.Leu183Val)
c.*189C>G (n.*189C>G)
c.*1411C>G (n.*1411C>G)
c.489C>G
c.191C>G
n.383C>G
c.538C>G (p.Leu180Val)
 gnomAD v4
9g.127663322C>TCA5248327STXBP1c.505C>T (p.Leu169=)
c.547C>T (p.Leu183=)
c.*189C>T (n.*189C>T)
c.*1411C>T (n.*1411C>T)
c.489C>T
c.191C>T
n.383C>T
c.538C>T (p.Leu180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127663323T>ACA374933177STXBP1c.506T>A (p.Leu169Gln)
c.548T>A (p.Leu183Gln)
c.*190T>A (n.*190T>A)
c.*1412T>A (n.*1412T>A)
c.490T>A
c.192T>A
n.384T>A
c.539T>A (p.Leu180Gln)
9g.127663323T>CCA247166STXBP1c.506T>C (p.Leu169Pro)
c.548T>C (p.Leu183Pro)
c.*190T>C (n.*190T>C)
c.*1412T>C (n.*1412T>C)
c.490T>C
c.192T>C
n.384T>C
c.539T>C (p.Leu180Pro)
 ClinVar dbSNP
9g.127663323T>GCA374933180STXBP1c.506T>G (p.Leu169Arg)
c.548T>G (p.Leu183Arg)
c.*190T>G (n.*190T>G)
c.*1412T>G (n.*1412T>G)
c.490T>G
c.192T>G
n.384T>G
c.539T>G (p.Leu180Arg)
9g.127663323T=CA1879908407STXBP1c.506T= (p.Leu169=)
c.548T= (p.Leu183=)
c.*190T= (n.*190T=)
c.*1412T= (n.*1412T=)
c.490T=
c.192T=
n.384T=
c.539T= (p.Leu180=)
9g.127663324G>ACA467223142STXBP1c.507G>A (p.Leu169=)
c.549G>A (p.Leu183=)
c.*191G>A (n.*191G>A)
c.*1413G>A (n.*1413G>A)
c.491G>A
c.193G>A
n.385G>A
c.540G>A (p.Leu180=)
9g.127663324G>CCA467223144STXBP1c.507G>C (p.Leu169=)
c.549G>C (p.Leu183=)
c.*191G>C (n.*191G>C)
c.*1413G>C (n.*1413G>C)
c.491G>C
c.193G>C
n.385G>C
c.540G>C (p.Leu180=)
9g.127663324G>TCA467223145STXBP1c.507G>T (p.Leu169=)
c.549G>T (p.Leu183=)
c.*191G>T (n.*191G>T)
c.*1413G>T (n.*1413G>T)
c.491G>T
c.193G>T
n.385G>T
c.540G>T (p.Leu180=)
9g.127663325A>CCA374933182STXBP1c.508A>C (p.Lys170Gln)
c.550A>C (p.Lys184Gln)
c.*192A>C (n.*192A>C)
c.*1414A>C (n.*1414A>C)
c.492A>C
c.194A>C
n.386A>C
c.541A>C (p.Lys181Gln)
9g.127663325A>GCA374933184STXBP1c.508A>G (p.Lys170Glu)
c.550A>G (p.Lys184Glu)
c.*192A>G (n.*192A>G)
c.*1414A>G (n.*1414A>G)
c.492A>G
c.194A>G
n.386A>G
c.541A>G (p.Lys181Glu)
9g.127663325A>TCA374933186STXBP1c.508A>T (p.Lys170Ter)
c.550A>T (p.Lys184Ter)
c.*192A>T (n.*192A>T)
c.*1414A>T (n.*1414A>T)
c.492A>T
c.194A>T
n.386A>T
c.541A>T (p.Lys181Ter)
9g.127663326A>CCA374933188STXBP1c.509A>C (p.Lys170Thr)
c.551A>C (p.Lys184Thr)
c.*193A>C (n.*193A>C)
c.*1415A>C (n.*1415A>C)
c.493A>C
c.195A>C
n.387A>C
c.542A>C (p.Lys181Thr)
9g.127663326A>GCA374933190STXBP1c.509A>G (p.Lys170Arg)
c.551A>G (p.Lys184Arg)
c.*193A>G (n.*193A>G)
c.*1415A>G (n.*1415A>G)
c.493A>G
c.195A>G
n.387A>G
c.542A>G (p.Lys181Arg)
9g.127663326A>TCA374933192STXBP1c.509A>T (p.Lys170Met)
c.551A>T (p.Lys184Met)
c.*193A>T (n.*193A>T)
c.*1415A>T (n.*1415A>T)
c.493A>T
c.195A>T
n.387A>T
c.542A>T (p.Lys181Met)
9g.127663327G>ACA5248328STXBP1c.510G>A (p.Lys170=)
c.552G>A (p.Lys184=)
c.*194G>A (n.*194G>A)
c.*1416G>A (n.*1416G>A)
c.494G>A
c.196G>A
n.388G>A
c.543G>A (p.Lys181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127663327G>CCA374933195STXBP1c.510G>C (p.Lys170Asn)
c.552G>C (p.Lys184Asn)
c.*194G>C (n.*194G>C)
c.*1416G>C (n.*1416G>C)
c.494G>C
c.196G>C
n.388G>C
c.543G>C (p.Lys181Asn)
9g.127663327G=CA1879908411STXBP1c.510G= (p.Lys170=)
c.552G= (p.Lys184=)
c.*194G= (n.*194G=)
c.*1416G= (n.*1416G=)
c.494G=
c.196G=
n.388G=
c.543G= (p.Lys181=)
9g.127663327G>TCA374933199STXBP1c.510G>T (p.Lys170Asn)
c.552G>T (p.Lys184Asn)
c.*194G>T (n.*194G>T)
c.*1416G>T (n.*1416G>T)
c.494G>T
c.196G>T
n.388G>T
c.543G>T (p.Lys181Asn)

Number of alleles fetched