Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127651621_127651624delinsTAAACA1879898331STXBP1c.14_17delinsTAAA (p.Ile5=)
c.56_59delinsTAAA (p.Ile19=)
c.-56_-53delinsTAAA (n.-56_-53delinsTAAA)
9g.127651622_127651624delCA16044321STXBP1c.15_17del (p.Ile5_Lys6delinsMet)
c.57_59del (p.Ile19_Lys20delinsMet)
c.-55_-53del (n.-55_-53del)
 ClinVar dbSNP
9g.127651622_127651625delinsAAAGCA1879898340STXBP1c.15_18delinsAAAG (p.Ile5=)
c.57_60delinsAAAG (p.Ile19=)
c.-55_-52delinsAAAG (n.-55_-52delinsAAAG)
9g.127651622_127651634delinsAAAGAAGGTCAAGCA1879898337STXBP1c.15_27delinsAAAGAAGGTCAAG (p.Ile5=)
c.57_69delinsAAAGAAGGTCAAG (p.Ile19=)
c.-55_-43delinsAAAGAAGGTCAAG (n.-55_-43delinsAAAGAAGGTCAAG)
9g.127651623A>CCA375176083STXBP1c.16A>C (p.Lys6Gln)
c.58A>C (p.Lys20Gln)
c.-54A>C (n.-54A>C)
9g.127651623A>GCA375176084STXBP1c.16A>G (p.Lys6Glu)
c.58A>G (p.Lys20Glu)
c.-54A>G (n.-54A>G)
9g.127651623A>TCA375176085STXBP1c.16A>T (p.Lys6Ter)
c.58A>T (p.Lys20Ter)
c.-54A>T (n.-54A>T)
9g.127651626_127651628delCA1879898349STXBP1c.19_21del (p.Lys7del)
c.61_63del (p.Lys21del)
c.-51_-49del (n.-51_-49del)
 ClinVar dbSNP
9g.127651630_127651641delCA916083065STXBP1c.23_34del (p.Val8_Lys11del)
c.65_76del (p.Val22_Lys25del)
c.-47_-36del (n.-47_-36del)
 ClinVar dbSNP
9g.127651624A>CCA375176086STXBP1c.17A>C (p.Lys6Thr)
c.59A>C (p.Lys20Thr)
c.1A>C
c.-53A>C (n.-53A>C)
 gnomAD v4
9g.127651624A>GCA375176087STXBP1c.17A>G (p.Lys6Arg)
c.59A>G (p.Lys20Arg)
c.1A>G
c.-53A>G (n.-53A>G)
9g.127651624A>TCA375176088STXBP1c.17A>T (p.Lys6Met)
c.59A>T (p.Lys20Met)
c.1A>T
c.-53A>T (n.-53A>T)
 gnomAD v4
9g.127651625delCA2695211171STXBP1c.18del (p.Lys7ArgfsTer16)
c.60del (p.Lys21ArgfsTer16)
c.2del
c.-52del (n.-52del)
9g.127651625G>ACA467433763STXBP1c.18G>A (p.Lys6=)
c.60G>A (p.Lys20=)
c.2G>A
c.-52G>A (n.-52G>A)
 ClinVar
9g.127651625G>CCA375176089STXBP1c.18G>C (p.Lys6Asn)
c.60G>C (p.Lys20Asn)
c.2G>C
c.-52G>C (n.-52G>C)
9g.127651625G>TCA375176090STXBP1c.18G>T (p.Lys6Asn)
c.60G>T (p.Lys20Asn)
c.2G>T
c.-52G>T (n.-52G>T)
9g.127651626A=CA1879898353STXBP1c.19A= (p.Lys7=)
c.61A= (p.Lys21=)
c.3A=
c.-51A= (n.-51A=)
9g.127651626A>CCA201184755STXBP1c.19A>C (p.Lys7Gln)
c.61A>C (p.Lys21Gln)
c.3A>C
c.-51A>C (n.-51A>C)
 dbSNP gnomAD v4
9g.127651626A>GCA375176091STXBP1c.19A>G (p.Lys7Glu)
c.61A>G (p.Lys21Glu)
c.3A>G
c.-51A>G (n.-51A>G)
9g.127651626A>TCA375176092STXBP1c.19A>T (p.Lys7Ter)
c.61A>T (p.Lys21Ter)
c.3A>T
c.-51A>T (n.-51A>T)
9g.127651627A>CCA375176093STXBP1c.20A>C (p.Lys7Thr)
c.62A>C (p.Lys21Thr)
c.4A>C
c.-50A>C (n.-50A>C)
9g.127651627A>GCA375176094STXBP1c.20A>G (p.Lys7Arg)
c.62A>G (p.Lys21Arg)
c.4A>G
c.-50A>G (n.-50A>G)
9g.127651627A>TCA375176095STXBP1c.20A>T (p.Lys7Met)
c.62A>T (p.Lys21Met)
c.4A>T
c.-50A>T (n.-50A>T)
9g.127651628G>ACA467433764STXBP1c.21G>A (p.Lys7=)
c.63G>A (p.Lys21=)
c.5G>A
c.-49G>A (n.-49G>A)
9g.127651628G>CCA375176097STXBP1c.21G>C (p.Lys7Asn)
c.63G>C (p.Lys21Asn)
c.5G>C
c.-49G>C (n.-49G>C)
9g.127651628G>TCA375176096STXBP1c.21G>T (p.Lys7Asn)
c.63G>T (p.Lys21Asn)
c.5G>T
c.-49G>T (n.-49G>T)
9g.127651629G>ACA375176098STXBP1c.22G>A (p.Val8Ile)
c.64G>A (p.Val22Ile)
c.6G>A
c.-48G>A (n.-48G>A)
 gnomAD v4
9g.127651629G>CCA375176099STXBP1c.22G>C (p.Val8Leu)
c.64G>C (p.Val22Leu)
c.6G>C
c.-48G>C (n.-48G>C)
9g.127651629G>TCA375176100STXBP1c.22G>T (p.Val8Phe)
c.64G>T (p.Val22Phe)
c.6G>T
c.-48G>T (n.-48G>T)
9g.127651630T>ACA375176101STXBP1c.23T>A (p.Val8Asp)
c.65T>A (p.Val22Asp)
c.7T>A
c.-47T>A (n.-47T>A)
9g.127651630T>CCA375176102STXBP1c.23T>C (p.Val8Ala)
c.65T>C (p.Val22Ala)
c.7T>C
c.-47T>C (n.-47T>C)
9g.127651630T>GCA375176103STXBP1c.23T>G (p.Val8Gly)
c.65T>G (p.Val22Gly)
c.7T>G
c.-47T>G (n.-47T>G)
9g.127651631C>ACA467433765STXBP1c.24C>A (p.Val8=)
c.66C>A (p.Val22=)
c.8C>A
c.-46C>A (n.-46C>A)
9g.127651631C>GCA467433767STXBP1c.24C>G (p.Val8=)
c.66C>G (p.Val22=)
c.8C>G
c.-46C>G (n.-46C>G)
9g.127651631C>TCA467433766STXBP1c.24C>T (p.Val8=)
c.66C>T (p.Val22=)
c.8C>T
c.-46C>T (n.-46C>T)
9g.127651632A>CCA375176104STXBP1c.25A>C (p.Lys9Gln)
c.67A>C (p.Lys23Gln)
c.9A>C
c.-45A>C (n.-45A>C)
9g.127651632A>GCA375176106STXBP1c.25A>G (p.Lys9Glu)
c.67A>G (p.Lys23Glu)
c.9A>G
c.-45A>G (n.-45A>G)
9g.127651632A>TCA375176105STXBP1c.25A>T (p.Lys9Ter)
c.67A>T (p.Lys23Ter)
c.9A>T
c.-45A>T (n.-45A>T)
9g.127651633A>CCA375176107STXBP1c.26A>C (p.Lys9Thr)
c.68A>C (p.Lys23Thr)
c.10A>C
c.-44A>C (n.-44A>C)
9g.127651633A>GCA375176108STXBP1c.26A>G (p.Lys9Arg)
c.68A>G (p.Lys23Arg)
c.10A>G
c.-44A>G (n.-44A>G)
9g.127651633A>TCA375176109STXBP1c.26A>T (p.Lys9Met)
c.68A>T (p.Lys23Met)
c.10A>T
c.-44A>T (n.-44A>T)
9g.127651634G>ACA467433768STXBP1c.27G>A (p.Lys9=)
c.69G>A (p.Lys23=)
c.11G>A
c.-43G>A (n.-43G>A)
9g.127651634G>CCA375176110STXBP1c.27G>C (p.Lys9Asn)
c.69G>C (p.Lys23Asn)
c.11G>C
c.-43G>C (n.-43G>C)
 gnomAD v4
9g.127651634G>TCA375176111STXBP1c.27G>T (p.Lys9Asn)
c.69G>T (p.Lys23Asn)
c.11G>T
c.-43G>T (n.-43G>T)
9g.127651635A>CCA375176112STXBP1c.28A>C (p.Lys10Gln)
c.70A>C (p.Lys24Gln)
c.12A>C
c.-42A>C (n.-42A>C)
9g.127651635A>GCA375176113STXBP1c.28A>G (p.Lys10Glu)
c.70A>G (p.Lys24Glu)
c.12A>G
c.-42A>G (n.-42A>G)
 ClinVar dbSNP
9g.127651635A>TCA375176114STXBP1c.28A>T (p.Lys10Ter)
c.70A>T (p.Lys24Ter)
c.12A>T
c.-42A>T (n.-42A>T)
9g.127651636A>CCA375176115STXBP1c.29A>C (p.Lys10Thr)
c.71A>C (p.Lys24Thr)
c.13A>C
c.-41A>C (n.-41A>C)
9g.127651636A>GCA375176116STXBP1c.29A>G (p.Lys10Arg)
c.71A>G (p.Lys24Arg)
c.13A>G
c.-41A>G (n.-41A>G)
9g.127651636A>TCA375176117STXBP1c.29A>T (p.Lys10Met)
c.71A>T (p.Lys24Met)
c.13A>T
c.-41A>T (n.-41A>T)
9g.127651637G>ACA467433769STXBP1c.30G>A (p.Lys10=)
c.72G>A (p.Lys24=)
c.14G>A
c.-40G>A (n.-40G>A)
9g.127651637G>CCA375176119STXBP1c.30G>C (p.Lys10Asn)
c.72G>C (p.Lys24Asn)
c.14G>C
c.-40G>C (n.-40G>C)
9g.127651637G>TCA375176118STXBP1c.30G>T (p.Lys10Asn)
c.72G>T (p.Lys24Asn)
c.14G>T
c.-40G>T (n.-40G>T)
9g.127651638A=CA1879898360STXBP1c.31A= (p.Lys11=)
c.73A= (p.Lys25=)
c.15A=
c.-39A= (n.-39A=)
9g.127651638A>CCA5248209STXBP1c.31A>C (p.Lys11Gln)
c.73A>C (p.Lys25Gln)
c.15A>C
c.-39A>C (n.-39A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127651638A>GCA375176121STXBP1c.31A>G (p.Lys11Glu)
c.73A>G (p.Lys25Glu)
c.15A>G
c.-39A>G (n.-39A>G)
9g.127651638A>TCA375176120STXBP1c.31A>T (p.Lys11Ter)
c.73A>T (p.Lys25Ter)
c.15A>T
c.-39A>T (n.-39A>T)
9g.127651639delCA2695211172STXBP1c.32del (p.Lys11ArgfsTer12)
c.74del (p.Lys25ArgfsTer12)
c.16del
c.-38del (n.-38del)
9g.127651639A>CCA375176122STXBP1c.32A>C (p.Lys11Thr)
c.74A>C (p.Lys25Thr)
c.16A>C
c.-38A>C (n.-38A>C)
9g.127651639A>GCA375176124STXBP1c.32A>G (p.Lys11Arg)
c.74A>G (p.Lys25Arg)
c.16A>G
c.-38A>G (n.-38A>G)
9g.127651639A>TCA375176123STXBP1c.32A>T (p.Lys11Met)
c.74A>T (p.Lys25Met)
c.16A>T
c.-38A>T (n.-38A>T)
9g.127651639_127651641delinsAGGCA1879898370STXBP1c.32_34delinsAGG (p.Lys11=)
c.74_76delinsAGG (p.Lys25=)
c.16_18delinsAGG
c.-38_-36delinsAGG (n.-38_-36delinsAGG)
9g.127651640G>ACA467433770STXBP1c.33G>A (p.Lys11=)
c.75G>A (p.Lys25=)
c.17G>A
c.-37G>A (n.-37G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127651640G>CCA375176125STXBP1c.33G>C (p.Lys11Asn)
c.75G>C (p.Lys25Asn)
c.17G>C
c.-37G>C (n.-37G>C)
9g.127651640G=CA1879898377STXBP1c.33G= (p.Lys11=)
c.75G= (p.Lys25=)
c.17G=
c.-37G= (n.-37G=)
9g.127651640G>TCA375176126STXBP1c.33G>T (p.Lys11Asn)
c.75G>T (p.Lys25Asn)
c.17G>T
c.-37G>T (n.-37G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127651643_127651644dupCA2739265059STXBP1c.36_37dup (p.Glu13GlyfsTer11)
c.78_79dup (p.Glu27GlyfsTer11)
c.20_21dup
c.-34_-33dup (n.-34_-33dup)
 ClinVar
9g.127651644delCA2695211173STXBP1c.37del (p.Glu13AsnfsTer10)
c.79del (p.Glu27AsnfsTer10)
c.21del
c.-33del (n.-33del)
9g.127651643_127651644delCA658653652STXBP1c.36_37del (p.Glu13MetfsTer?)
c.78_79del (p.Glu27MetfsTer?)
c.20_21del
c.-34_-33del (n.-34_-33del)
 ClinVar dbSNP
9g.127651641G>ACA375176127STXBP1c.34G>A (p.Gly12Arg)
c.76G>A (p.Gly26Arg)
c.18G>A
c.-36G>A (n.-36G>A)
 dbSNP
9g.127651641G>CCA375176129STXBP1c.34G>C (p.Gly12Arg)
c.76G>C (p.Gly26Arg)
c.18G>C
c.-36G>C (n.-36G>C)
9g.127651641G=CA1879898383STXBP1c.34G= (p.Gly12=)
c.76G= (p.Gly26=)
c.18G=
c.-36G= (n.-36G=)
9g.127651641G>TCA375176128STXBP1c.34G>T (p.Gly12Trp)
c.76G>T (p.Gly26Trp)
c.18G>T
c.-36G>T (n.-36G>T)
9g.127651642G>ACA375176130STXBP1c.35G>A (p.Gly12Glu)
c.77G>A (p.Gly26Glu)
c.19G>A
c.-35G>A (n.-35G>A)
9g.127651642G>CCA375176132STXBP1c.35G>C (p.Gly12Ala)
c.77G>C (p.Gly26Ala)
c.19G>C
c.-35G>C (n.-35G>C)
9g.127651642G>TCA375176131STXBP1c.35G>T (p.Gly12Val)
c.77G>T (p.Gly26Val)
c.19G>T
c.-35G>T (n.-35G>T)
9g.127651643G>ACA467433771STXBP1c.36G>A (p.Gly12=)
c.78G>A (p.Gly26=)
c.20G>A
c.-34G>A (n.-34G>A)
9g.127651643G>CCA467433772STXBP1c.36G>C (p.Gly12=)
c.78G>C (p.Gly26=)
c.20G>C
c.-34G>C (n.-34G>C)
9g.127651643G>TCA467433773STXBP1c.36G>T (p.Gly12=)
c.78G>T (p.Gly26=)
c.20G>T
c.-34G>T (n.-34G>T)
9g.127651644G>ACA375176133STXBP1c.37G>A (p.Glu13Lys)
c.79G>A (p.Glu27Lys)
c.21G>A
c.-33G>A (n.-33G>A)
9g.127651644G>CCA375176135STXBP1c.37G>C (p.Glu13Gln)
c.79G>C (p.Glu27Gln)
c.21G>C
c.-33G>C (n.-33G>C)
9g.127651644G=CA1879898389STXBP1c.37G= (p.Glu13=)
c.79G= (p.Glu27=)
c.21G=
c.-33G= (n.-33G=)
9g.127651644G>TCA375176134STXBP1c.37G>T (p.Glu13Ter)
c.79G>T (p.Glu27Ter)
c.21G>T
c.-33G>T (n.-33G>T)
 ClinVar dbSNP
9g.127651645A>CCA375176136STXBP1c.38A>C (p.Glu13Ala)
c.80A>C (p.Glu27Ala)
c.22A>C
c.-32A>C (n.-32A>C)
9g.127651645A>GCA375176138STXBP1c.38A>G (p.Glu13Gly)
c.80A>G (p.Glu27Gly)
c.22A>G
c.-32A>G (n.-32A>G)
9g.127651645A>TCA375176137STXBP1c.38A>T (p.Glu13Val)
c.80A>T (p.Glu27Val)
c.22A>T
c.-32A>T (n.-32A>T)
9g.127651646A>CCA375176139STXBP1c.39A>C (p.Glu13Asp)
c.81A>C (p.Glu27Asp)
c.23A>C
c.-31A>C (n.-31A>C)
9g.127651646A>GCA467433774STXBP1c.39A>G (p.Glu13=)
c.81A>G (p.Glu27=)
c.23A>G
c.-31A>G (n.-31A>G)
 gnomAD v4
9g.127651646A>TCA375176140STXBP1c.39A>T (p.Glu13Asp)
c.81A>T (p.Glu27Asp)
c.23A>T
c.-31A>T (n.-31A>T)
9g.127651647T>ACA375176141STXBP1c.40T>A (p.Trp14Arg)
c.82T>A (p.Trp28Arg)
c.24T>A
c.-30T>A (n.-30T>A)
9g.127651647T>CCA375176142STXBP1c.40T>C (p.Trp14Arg)
c.82T>C (p.Trp28Arg)
c.24T>C
c.-30T>C (n.-30T>C)
9g.127651647T>GCA375176143STXBP1c.40T>G (p.Trp14Gly)
c.82T>G (p.Trp28Gly)
c.24T>G
c.-30T>G (n.-30T>G)
 ClinVar
9g.127651648G>ACA375176144STXBP1c.41G>A (p.Trp14Ter)
c.83G>A (p.Trp28Ter)
c.25G>A
c.-29G>A (n.-29G>A)
9g.127651648G>CCA375176145STXBP1c.41G>C (p.Trp14Ser)
c.83G>C (p.Trp28Ser)
c.25G>C
c.-29G>C (n.-29G>C)
9g.127651648G>TCA375176146STXBP1c.41G>T (p.Trp14Leu)
c.83G>T (p.Trp28Leu)
c.25G>T
c.-29G>T (n.-29G>T)
9g.127651649dupCA2739265060STXBP1c.42dup (p.Lys15GlufsTer?)
c.84dup (p.Lys29GlufsTer?)
c.26dup
c.-28dup (n.-28dup)
 ClinVar
9g.127651649G>ACA16618736STXBP1c.42G>A (p.Trp14Ter)
c.84G>A (p.Trp28Ter)
c.26G>A
c.-28G>A (n.-28G>A)
 ClinVar dbSNP
9g.127651649G>CCA375176147STXBP1c.42G>C (p.Trp14Cys)
c.84G>C (p.Trp28Cys)
c.26G>C
c.-28G>C (n.-28G>C)
9g.127651649G=CA1879898401STXBP1c.42G= (p.Trp14=)
c.84G= (p.Trp28=)
c.26G=
c.-28G= (n.-28G=)
9g.127651649G>TCA375176148STXBP1c.42G>T (p.Trp14Cys)
c.84G>T (p.Trp28Cys)
c.26G>T
c.-28G>T (n.-28G>T)
9g.127651650A>CCA375176149STXBP1c.43A>C (p.Lys15Gln)
c.85A>C (p.Lys29Gln)
c.27A>C
c.-27A>C (n.-27A>C)
9g.127651650A>GCA375176150STXBP1c.43A>G (p.Lys15Glu)
c.85A>G (p.Lys29Glu)
c.27A>G
c.-27A>G (n.-27A>G)
9g.127651650A>TCA375176151STXBP1c.43A>T (p.Lys15Ter)
c.85A>T (p.Lys29Ter)
c.27A>T
c.-27A>T (n.-27A>T)
9g.127651651A>CCA375176154STXBP1c.44A>C (p.Lys15Thr)
c.86A>C (p.Lys29Thr)
c.28A>C
c.-26A>C (n.-26A>C)
9g.127651651A>GCA375176152STXBP1c.44A>G (p.Lys15Arg)
c.86A>G (p.Lys29Arg)
c.28A>G
c.-26A>G (n.-26A>G)
9g.127651651A>TCA375176153STXBP1c.44A>T (p.Lys15Met)
c.86A>T (p.Lys29Met)
c.28A>T
c.-26A>T (n.-26A>T)
9g.127651652G>ACA467433775STXBP1c.45G>A (p.Lys15=)
c.87G>A (p.Lys29=)
c.29G>A
c.-25G>A (n.-25G>A)
9g.127651652G>CCA375176155STXBP1c.45G>C (p.Lys15Asn)
c.87G>C (p.Lys29Asn)
c.29G>C
c.-25G>C (n.-25G>C)
9g.127651652G>TCA375176156STXBP1c.45G>T (p.Lys15Asn)
c.87G>T (p.Lys29Asn)
c.29G>T
c.-25G>T (n.-25G>T)
9g.127651653G>ACA318843STXBP1c.45+1G>A (n.45+1G>A)
c.87+1G>A (n.87+1G>A)
c.29+1G>A
c.-25+1G>A (n.-25+1G>A)
 ClinVar dbSNP
9g.127651653G>CCA375176157STXBP1c.45+1G>C (n.45+1G>C)
c.87+1G>C (n.87+1G>C)
c.29+1G>C
c.-25+1G>C (n.-25+1G>C)
9g.127651653G=CA1879898430STXBP1c.45+1G= (n.45+1G=)
c.87+1G= (n.87+1G=)
c.29+1G=
c.-25+1G= (n.-25+1G=)
9g.127651653G>TCA375176158STXBP1c.45+1G>T (n.45+1G>T)
c.87+1G>T (n.87+1G>T)
c.29+1G>T
c.-25+1G>T (n.-25+1G>T)
9g.127651654T>ACA375176159STXBP1c.45+2T>A (n.45+2T>A)
c.87+2T>A (n.87+2T>A)
c.29+2T>A
c.-25+2T>A (n.-25+2T>A)
9g.127651654T>CCA375176160STXBP1c.45+2T>C (n.45+2T>C)
c.87+2T>C (n.87+2T>C)
c.29+2T>C
c.-25+2T>C (n.-25+2T>C)
 ClinVar dbSNP
9g.127651654T>GCA375176161STXBP1c.45+2T>G (n.45+2T>G)
c.87+2T>G (n.87+2T>G)
c.29+2T>G
c.-25+2T>G (n.-25+2T>G)
9g.127651654T=CA1879898439STXBP1c.45+2T= (n.45+2T=)
c.87+2T= (n.87+2T=)
c.29+2T=
c.-25+2T= (n.-25+2T=)
9g.127651655G>ACA5248210STXBP1c.45+3G>A (n.45+3G>A)
c.87+3G>A (n.87+3G>A)
c.29+3G>A
c.-25+3G>A (n.-25+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127651655G>CCA1139771629STXBP1c.45+3G>C (n.45+3G>C)
c.87+3G>C (n.87+3G>C)
c.29+3G>C
c.-25+3G>C (n.-25+3G>C)
 gnomAD v4
9g.127651655G=CA1879898447STXBP1c.45+3G= (n.45+3G=)
c.87+3G= (n.87+3G=)
c.29+3G=
c.-25+3G= (n.-25+3G=)
9g.127651659A=CA1879898451STXBP1c.45+7A= (n.45+7A=)
c.87+7A= (n.87+7A=)
c.29+7A=
c.-25+7A= (n.-25+7A=)
9g.127651659A>GCA5248211STXBP1c.45+7A>G (n.45+7A>G)
c.87+7A>G (n.87+7A>G)
c.29+7A>G
c.-25+7A>G (n.-25+7A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127651660G>ACA1879898453STXBP1c.45+8G>A (n.45+8G>A)
c.87+8G>A (n.87+8G>A)
c.29+8G>A
c.-25+8G>A (n.-25+8G>A)
 dbSNP
9g.127651660G>CCA2691771299STXBP1c.45+8G>C (n.45+8G>C)
c.87+8G>C (n.87+8G>C)
c.29+8G>C
c.-25+8G>C (n.-25+8G>C)
 gnomAD v4
9g.127651660G=CA1879898452STXBP1c.45+8G= (n.45+8G=)
c.87+8G= (n.87+8G=)
c.29+8G=
c.-25+8G= (n.-25+8G=)
9g.127651662A>CCA2691771300STXBP1c.45+10A>C (n.45+10A>C)
c.87+10A>C (n.87+10A>C)
c.29+10A>C
c.-25+10A>C (n.-25+10A>C)
 gnomAD v4
9g.127651663A>GCA2691771301STXBP1c.45+11A>G (n.45+11A>G)
c.87+11A>G (n.87+11A>G)
c.29+11A>G
c.-25+11A>G (n.-25+11A>G)
 gnomAD v4
9g.127651667C>ACA860169695STXBP1c.45+15C>A (n.45+15C>A)
c.87+15C>A (n.87+15C>A)
c.29+15C>A
c.-25+15C>A (n.-25+15C>A)
 dbSNP
9g.127651667C=CA1879898454STXBP1c.45+15C= (n.45+15C=)
c.87+15C= (n.87+15C=)
c.29+15C=
c.-25+15C= (n.-25+15C=)
9g.127651668A>GCA2573143871STXBP1c.45+16A>G (n.45+16A>G)
c.87+16A>G (n.87+16A>G)
c.29+16A>G
c.-25+16A>G (n.-25+16A>G)
 ClinVar dbSNP gnomAD v4
9g.127651669G>ACA2691771302STXBP1c.45+17G>A (n.45+17G>A)
c.87+17G>A (n.87+17G>A)
c.29+17G>A
c.-25+17G>A (n.-25+17G>A)
 gnomAD v4
9g.127651670T>CCA5248212STXBP1c.45+18T>C (n.45+18T>C)
c.87+18T>C (n.87+18T>C)
c.29+18T>C
c.-25+18T>C (n.-25+18T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127651670T=CA1879898456STXBP1c.45+18T= (n.45+18T=)
c.87+18T= (n.87+18T=)
c.29+18T=
c.-25+18T= (n.-25+18T=)
9g.127651671T>CCA5248213STXBP1c.45+19T>C (n.45+19T>C)
c.87+19T>C (n.87+19T>C)
c.29+19T>C
c.-25+19T>C (n.-25+19T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127651671T=CA1879898458STXBP1c.45+19T= (n.45+19T=)
c.87+19T= (n.87+19T=)
c.29+19T=
c.-25+19T= (n.-25+19T=)
9g.127651673dupCA2579458444STXBP1c.45+21dup (n.45+21dup)
c.87+21dup (n.87+21dup)
c.29+21dup
c.-25+21dup (n.-25+21dup)
9g.127651673A=CA1879898459STXBP1c.45+21A= (n.45+21A=)
c.87+21A= (n.87+21A=)
c.29+21A=
c.-25+21A= (n.-25+21A=)
9g.127651673A>GCA1879898460STXBP1c.45+21A>G (n.45+21A>G)
c.87+21A>G (n.87+21A>G)
c.29+21A>G
c.-25+21A>G (n.-25+21A>G)
 dbSNP gnomAD v4
9g.127651673_127651675dupCA2691771303STXBP1c.45+21_45+23dup (n.45+21_45+23dup)
c.87+21_87+23dup (n.87+21_87+23dup)
c.29+21_29+23dup
c.-25+21_-25+23dup (n.-25+21_-25+23dup)
 gnomAD v4
9g.127651674T>CCA5248214STXBP1c.45+22T>C (n.45+22T>C)
c.87+22T>C (n.87+22T>C)
c.29+22T>C
c.-25+22T>C (n.-25+22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127651674T=CA1879898462STXBP1c.45+22T= (n.45+22T=)
c.87+22T= (n.87+22T=)
c.29+22T=
c.-25+22T= (n.-25+22T=)
9g.127651675G>ACA2691771304STXBP1c.45+23G>A (n.45+23G>A)
c.87+23G>A (n.87+23G>A)
c.29+23G>A
c.-25+23G>A (n.-25+23G>A)
 gnomAD v4
9g.127651675G>CCA590893640STXBP1c.45+23G>C (n.45+23G>C)
c.87+23G>C (n.87+23G>C)
c.29+23G>C
c.-25+23G>C (n.-25+23G>C)
 dbSNP gnomAD v2 gnomAD v4
9g.127651675G=CA1879898465STXBP1c.45+23G= (n.45+23G=)
c.87+23G= (n.87+23G=)
c.29+23G=
c.-25+23G= (n.-25+23G=)
9g.127651677G>CCA2691771305STXBP1c.45+25G>C (n.45+25G>C)
c.87+25G>C (n.87+25G>C)
c.29+25G>C
c.-25+25G>C (n.-25+25G>C)
 gnomAD v4
9g.127651680T>GCA201184761STXBP1c.45+28T>G (n.45+28T>G)
c.87+28T>G (n.87+28T>G)
c.29+28T>G
c.-25+28T>G (n.-25+28T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127651680T=CA1879898468STXBP1c.45+28T= (n.45+28T=)
c.87+28T= (n.87+28T=)
c.29+28T=
c.-25+28T= (n.-25+28T=)
9g.127651681A>GCA2579458445STXBP1c.45+29A>G (n.45+29A>G)
c.87+29A>G (n.87+29A>G)
c.29+29A>G
c.-25+29A>G (n.-25+29A>G)
 gnomAD v4
9g.127651683G>ACA2691771306STXBP1c.45+31G>A (n.45+31G>A)
c.87+31G>A (n.87+31G>A)
c.29+31G>A
c.-25+31G>A (n.-25+31G>A)
 gnomAD v4
9g.127651684G>ACA2579458446STXBP1c.45+32G>A (n.45+32G>A)
c.87+32G>A (n.87+32G>A)
c.29+32G>A
c.-25+32G>A (n.-25+32G>A)
9g.127651684G=CA1879898469STXBP1c.45+32G= (n.45+32G=)
c.87+32G= (n.87+32G=)
c.29+32G=
c.-25+32G= (n.-25+32G=)
9g.127651684G>TCA590893641STXBP1c.45+32G>T (n.45+32G>T)
c.87+32G>T (n.87+32G>T)
c.29+32G>T
c.-25+32G>T (n.-25+32G>T)
 dbSNP gnomAD v2 gnomAD v4
9g.127651684_127651689delinsGTGAGTCA1879898470STXBP1c.45+32_45+37delinsGTGAGT (n.45+32_45+37delinsGTGAGT)
c.87+32_87+37delinsGTGAGT (n.87+32_87+37delinsGTGAGT)
c.29+32_29+37delinsGTGAGT
c.-25+32_-25+37delinsGTGAGT (n.-25+32_-25+37delinsGTGAGT)
9g.127651686_127651690delCA860169729STXBP1c.45+34_45+38del (n.45+34_45+38del)
c.87+34_87+38del (n.87+34_87+38del)
c.29+34_29+38del
c.-25+34_-25+38del (n.-25+34_-25+38del)
 dbSNP gnomAD v3 gnomAD v4
9g.127651686G>TCA2691771307STXBP1c.45+34G>T (n.45+34G>T)
c.87+34G>T (n.87+34G>T)
c.29+34G>T
c.-25+34G>T (n.-25+34G>T)
 gnomAD v4
9g.127651687A>TCA2579458447STXBP1c.45+35A>T (n.45+35A>T)
c.87+35A>T (n.87+35A>T)
c.29+35A>T
c.-25+35A>T (n.-25+35A>T)
 gnomAD v4
9g.127651688G=CA1879898472STXBP1c.45+36G= (n.45+36G=)
c.87+36G= (n.87+36G=)
c.29+36G=
c.-25+36G= (n.-25+36G=)
9g.127651688G>TCA5248215STXBP1c.45+36G>T (n.45+36G>T)
c.87+36G>T (n.87+36G>T)
c.29+36G>T
c.-25+36G>T (n.-25+36G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127651690T>CCA2691771308STXBP1c.45+38T>C (n.45+38T>C)
c.87+38T>C (n.87+38T>C)
c.29+38T>C
c.-25+38T>C (n.-25+38T>C)
 gnomAD v4
9g.127651690T>GCA590893642STXBP1c.45+38T>G (n.45+38T>G)
c.87+38T>G (n.87+38T>G)
c.29+38T>G
c.-25+38T>G (n.-25+38T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127651690T=CA1879898479STXBP1c.45+38T= (n.45+38T=)
c.87+38T= (n.87+38T=)
c.29+38T=
c.-25+38T= (n.-25+38T=)
9g.127651692A>CCA2691771309STXBP1c.45+40A>C (n.45+40A>C)
c.87+40A>C (n.87+40A>C)
c.29+40A>C
c.-25+40A>C (n.-25+40A>C)
 gnomAD v4
9g.127651692A>GCA2509264627STXBP1c.45+40A>G (n.45+40A>G)
c.87+40A>G (n.87+40A>G)
c.29+40A>G
c.-25+40A>G (n.-25+40A>G)
9g.127651694A>GCA2691771310STXBP1c.45+42A>G (n.45+42A>G)
c.87+42A>G (n.87+42A>G)
c.29+42A>G
c.-25+42A>G (n.-25+42A>G)
 gnomAD v4
9g.127651695T>CCA2691771311STXBP1c.45+43T>C (n.45+43T>C)
c.87+43T>C (n.87+43T>C)
c.29+43T>C
c.-25+43T>C (n.-25+43T>C)
 gnomAD v4
9g.127651696G>ACA2691771312STXBP1c.45+44G>A (n.45+44G>A)
c.87+44G>A (n.87+44G>A)
c.29+44G>A
c.-25+44G>A (n.-25+44G>A)
 gnomAD v4
9g.127651701A=CA1879898480STXBP1c.45+49A= (n.45+49A=)
c.87+49A= (n.87+49A=)
c.29+49A=
c.-25+49A= (n.-25+49A=)
9g.127651701A>TCA201184764STXBP1c.45+49A>T (n.45+49A>T)
c.87+49A>T (n.87+49A>T)
c.29+49A>T
c.-25+49A>T (n.-25+49A>T)
 dbSNP gnomAD v4
9g.127651704C=CA1879898483STXBP1c.45+52C= (n.45+52C=)
c.87+52C= (n.87+52C=)
c.29+52C=
c.-25+52C= (n.-25+52C=)
9g.127651704C>TCA590893643STXBP1c.45+52C>T (n.45+52C>T)
c.87+52C>T (n.87+52C>T)
c.29+52C>T
c.-25+52C>T (n.-25+52C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127651708A=CA1879898485STXBP1c.45+56A= (n.45+56A=)
c.87+56A= (n.87+56A=)
c.29+56A=
c.-25+56A= (n.-25+56A=)
9g.127651709G>ACA2579458448STXBP1c.45+57G>A (n.45+57G>A)
c.87+57G>A (n.87+57G>A)
c.29+57G>A
c.-25+57G>A (n.-25+57G>A)
 gnomAD v4
9g.127651712dupCA590893644STXBP1c.45+60dup (n.45+60dup)
c.87+60dup (n.87+60dup)
c.29+60dup
c.-25+60dup (n.-25+60dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127651710G>ACA2785991943STXBP1c.45+58G>A (n.45+58G>A)
c.87+58G>A (n.87+58G>A)
c.29+58G>A
c.-25+58G>A (n.-25+58G>A)
9g.127651710G>TCA2691771313STXBP1c.45+58G>T (n.45+58G>T)
c.87+58G>T (n.87+58G>T)
c.29+58G>T
c.-25+58G>T (n.-25+58G>T)
 gnomAD v4
9g.127651711G>ACA1879898489STXBP1c.45+59G>A (n.45+59G>A)
c.87+59G>A (n.87+59G>A)
c.29+59G>A
c.-25+59G>A (n.-25+59G>A)
 dbSNP gnomAD v4
9g.127651711G=CA1879898488STXBP1c.45+59G= (n.45+59G=)
c.87+59G= (n.87+59G=)
c.29+59G=
c.-25+59G= (n.-25+59G=)
9g.127651712G>ACA1879898494STXBP1c.45+60G>A (n.45+60G>A)
c.87+60G>A (n.87+60G>A)
c.29+60G>A
c.-25+60G>A (n.-25+60G>A)
 dbSNP
9g.127651712G=CA1879898492STXBP1c.45+60G= (n.45+60G=)
c.87+60G= (n.87+60G=)
c.29+60G=
c.-25+60G= (n.-25+60G=)
9g.127651712G>TCA2691771314STXBP1c.45+60G>T (n.45+60G>T)
c.87+60G>T (n.87+60G>T)
c.29+60G>T
c.-25+60G>T (n.-25+60G>T)
 gnomAD v4
9g.127651713A>GCA2691771315STXBP1c.45+61A>G (n.45+61A>G)
c.87+61A>G (n.87+61A>G)
c.29+61A>G
c.-25+61A>G (n.-25+61A>G)
 gnomAD v4
9g.127651713A>TCA2691771316STXBP1c.45+61A>T (n.45+61A>T)
c.87+61A>T (n.87+61A>T)
c.29+61A>T
c.-25+61A>T (n.-25+61A>T)
 gnomAD v4
9g.127651714T>ACA2691771317STXBP1c.45+62T>A (n.45+62T>A)
c.87+62T>A (n.87+62T>A)
c.29+62T>A
c.-25+62T>A (n.-25+62T>A)
 gnomAD v4
9g.127651715_127651716delCA2691771318STXBP1c.45+63_45+64del (n.45+63_45+64del)
c.87+63_87+64del (n.87+63_87+64del)
c.29+63_29+64del
c.-25+63_-25+64del (n.-25+63_-25+64del)
 gnomAD v4
9g.127651716G>CCA2691771319STXBP1c.45+64G>C (n.45+64G>C)
c.87+64G>C (n.87+64G>C)
c.29+64G>C
c.-25+64G>C (n.-25+64G>C)
 gnomAD v4
9g.127651717A>GCA2691771320STXBP1c.45+65A>G (n.45+65A>G)
c.87+65A>G (n.87+65A>G)
c.29+65A>G
c.-25+65A>G (n.-25+65A>G)
 gnomAD v4
9g.127651717A>TCA653783222STXBP1c.45+65A>T (n.45+65A>T)
c.87+65A>T (n.87+65A>T)
c.29+65A>T
c.-25+65A>T (n.-25+65A>T)
 COSMIC
9g.127651717_127651718insCTCA2691771321STXBP1c.45+65_45+66insCT (n.45+65_45+66insCT)
c.87+65_87+66insCT (n.87+65_87+66insCT)
c.29+65_29+66insCT
c.-25+65_-25+66insCT (n.-25+65_-25+66insCT)
 gnomAD v4
9g.127651718G=CA1879898495STXBP1c.45+66G= (n.45+66G=)
c.87+66G= (n.87+66G=)
c.29+66G=
c.-25+66G= (n.-25+66G=)
9g.127651718G>TCA201184765STXBP1c.45+66G>T (n.45+66G>T)
c.87+66G>T (n.87+66G>T)
c.29+66G>T
c.-25+66G>T (n.-25+66G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127651719T>GCA2691771322STXBP1c.45+67T>G (n.45+67T>G)
c.87+67T>G (n.87+67T>G)
c.29+67T>G
c.-25+67T>G (n.-25+67T>G)
 gnomAD v4
9g.127651721G>ACA860169735STXBP1c.45+69G>A (n.45+69G>A)
c.87+69G>A (n.87+69G>A)
c.29+69G>A
c.-25+69G>A (n.-25+69G>A)
 dbSNP
9g.127651721G=CA1879898496STXBP1c.45+69G= (n.45+69G=)
c.87+69G= (n.87+69G=)
c.29+69G=
c.-25+69G= (n.-25+69G=)
9g.127651721G>TCA860169737STXBP1c.45+69G>T (n.45+69G>T)
c.87+69G>T (n.87+69G>T)
c.29+69G>T
c.-25+69G>T (n.-25+69G>T)
 dbSNP gnomAD v3 gnomAD v4
9g.127651722G>TCA2579458449STXBP1c.45+70G>T (n.45+70G>T)
c.87+70G>T (n.87+70G>T)
c.29+70G>T
c.-25+70G>T (n.-25+70G>T)
9g.127651723A=CA1879898497STXBP1c.45+71A= (n.45+71A=)
c.87+71A= (n.87+71A=)
c.29+71A=
c.-25+71A= (n.-25+71A=)
9g.127651723A>GCA1129252791STXBP1c.45+71A>G (n.45+71A>G)
c.87+71A>G (n.87+71A>G)
c.29+71A>G
c.-25+71A>G (n.-25+71A>G)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched