Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127653698_127653710delinsGTTCTCTTTCCTTCA1879900471STXBP1c.46-17_46-5delinsGTTCTCTTTCCTT (n.46-17_46-5delinsGTTCTCTTTCCTT)
c.88-17_88-5delinsGTTCTCTTTCCTT (n.88-17_88-5delinsGTTCTCTTTCCTT)
c.30-17_30-5delinsGTTCTCTTTCCTT
c.-24-17_-24-5delinsGTTCTCTTTCCTT (n.-24-17_-24-5delinsGTTCTCTTTCCTT)
9g.127653699_127653710delCA916083066STXBP1c.46-16_46-5del (n.46-16_46-5del)
c.88-16_88-5del (n.88-16_88-5del)
c.30-16_30-5del
c.-24-16_-24-5del (n.-24-16_-24-5del)
 ClinVar dbSNP
9g.127653706dupCA1879900480STXBP1c.46-9dup (n.46-9dup)
c.88-9dup (n.88-9dup)
c.30-9dup
c.-24-9dup (n.-24-9dup)
 dbSNP
9g.127653706T>CCA2691771450STXBP1c.46-9T>C (n.46-9T>C)
c.88-9T>C (n.88-9T>C)
c.30-9T>C
c.-24-9T>C (n.-24-9T>C)
 ClinVar gnomAD v4
9g.127653707C=CA1879900485STXBP1c.46-8C= (n.46-8C=)
c.88-8C= (n.88-8C=)
c.30-8C=
c.-24-8C= (n.-24-8C=)
9g.127653707C>TCA5248222STXBP1c.46-8C>T (n.46-8C>T)
c.88-8C>T (n.88-8C>T)
c.30-8C>T
c.-24-8C>T (n.-24-8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127653709T>CCA2691771451STXBP1c.46-6T>C (n.46-6T>C)
c.88-6T>C (n.88-6T>C)
c.30-6T>C
c.-24-6T>C (n.-24-6T>C)
 gnomAD v4
9g.127653712C=CA1879900486STXBP1c.46-3C= (n.46-3C=)
c.88-3C= (n.88-3C=)
c.30-3C=
c.-24-3C= (n.-24-3C=)
9g.127653712C>TCA1129253326STXBP1c.46-3C>T (n.46-3C>T)
c.88-3C>T (n.88-3C>T)
c.30-3C>T
c.-24-3C>T (n.-24-3C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127653713A=CA1879900487STXBP1c.46-2A= (n.46-2A=)
c.88-2A= (n.88-2A=)
c.30-2A=
c.-24-2A= (n.-24-2A=)
9g.127653713A>CCA318844STXBP1c.46-2A>C (n.46-2A>C)
c.88-2A>C (n.88-2A>C)
c.30-2A>C
c.-24-2A>C (n.-24-2A>C)
 ClinVar dbSNP
9g.127653713A>GCA375176162STXBP1c.46-2A>G (n.46-2A>G)
c.88-2A>G (n.88-2A>G)
c.30-2A>G
c.-24-2A>G (n.-24-2A>G)
 ClinVar dbSNP COSMIC COSMIC
9g.127653713A>TCA375176163STXBP1c.46-2A>T (n.46-2A>T)
c.88-2A>T (n.88-2A>T)
c.30-2A>T
c.-24-2A>T (n.-24-2A>T)
9g.127653714G>ACA375176164STXBP1c.46-1G>A (n.46-1G>A)
c.88-1G>A (n.88-1G>A)
c.30-1G>A
c.-24-1G>A (n.-24-1G>A)
 ClinVar
9g.127653714G>CCA375176165STXBP1c.46-1G>C (n.46-1G>C)
c.88-1G>C (n.88-1G>C)
c.30-1G>C
c.-24-1G>C (n.-24-1G>C)
9g.127653714G>TCA375176166STXBP1c.46-1G>T (n.46-1G>T)
c.88-1G>T (n.88-1G>T)
c.30-1G>T
c.-24-1G>T (n.-24-1G>T)
9g.127653715G>ACA375176169STXBP1c.46G>A (p.Val16Met)
c.88G>A (p.Val30Met)
c.30G>A
c.-24G>A (n.-24G>A)
 ClinVar dbSNP
9g.127653715G>CCA375176167STXBP1c.46G>C (p.Val16Leu)
c.88G>C (p.Val30Leu)
c.30G>C
c.-24G>C (n.-24G>C)
9g.127653715G=CA1879900488STXBP1c.46G= (p.Val16=)
c.88G= (p.Val30=)
c.30G=
c.-24G= (n.-24G=)
9g.127653715G>TCA375176168STXBP1c.46G>T (p.Val16Leu)
c.88G>T (p.Val30Leu)
c.30G>T
c.-24G>T (n.-24G>T)
9g.127653716T>ACA375176170STXBP1c.47T>A (p.Val16Glu)
c.89T>A (p.Val30Glu)
c.31T>A
c.-23T>A (n.-23T>A)
9g.127653716T>CCA375176171STXBP1c.47T>C (p.Val16Ala)
c.89T>C (p.Val30Ala)
c.31T>C
c.-23T>C (n.-23T>C)
9g.127653716T>GCA375176172STXBP1c.47T>G (p.Val16Gly)
c.89T>G (p.Val30Gly)
c.31T>G
c.-23T>G (n.-23T>G)
9g.127653717G>ACA467433811STXBP1c.48G>A (p.Val16=)
c.90G>A (p.Val30=)
c.32G>A
c.-22G>A (n.-22G>A)
9g.127653717G>CCA467433812STXBP1c.48G>C (p.Val16=)
c.90G>C (p.Val30=)
c.32G>C
c.-22G>C (n.-22G>C)
9g.127653717G>TCA467433813STXBP1c.48G>T (p.Val16=)
c.90G>T (p.Val30=)
c.32G>T
c.-22G>T (n.-22G>T)
9g.127653718C>ACA375176173STXBP1c.49C>A (p.Leu17Met)
c.91C>A (p.Leu31Met)
c.33C>A
c.-21C>A (n.-21C>A)
9g.127653718C>GCA375176174STXBP1c.49C>G (p.Leu17Val)
c.91C>G (p.Leu31Val)
c.33C>G
c.-21C>G (n.-21C>G)
9g.127653718C>TCA467433814STXBP1c.49C>T (p.Leu17=)
c.91C>T (p.Leu31=)
c.33C>T
c.-21C>T (n.-21C>T)
9g.127653719T>ACA375176175STXBP1c.50T>A (p.Leu17Gln)
c.92T>A (p.Leu31Gln)
c.34T>A
c.-20T>A (n.-20T>A)
9g.127653719T>CCA375176176STXBP1c.50T>C (p.Leu17Pro)
c.92T>C (p.Leu31Pro)
c.34T>C
c.-20T>C (n.-20T>C)
9g.127653719T>GCA375176177STXBP1c.50T>G (p.Leu17Arg)
c.92T>G (p.Leu31Arg)
c.34T>G
c.-20T>G (n.-20T>G)
9g.127653720G>ACA467433815STXBP1c.51G>A (p.Leu17=)
c.93G>A (p.Leu31=)
c.35G>A
c.-19G>A (n.-19G>A)
9g.127653720G>CCA467433816STXBP1c.51G>C (p.Leu17=)
c.93G>C (p.Leu31=)
c.35G>C
c.-19G>C (n.-19G>C)
9g.127653720G>TCA467433817STXBP1c.51G>T (p.Leu17=)
c.93G>T (p.Leu31=)
c.35G>T
c.-19G>T (n.-19G>T)
9g.127653721G>ACA201185124STXBP1c.52G>A (p.Val18Met)
c.94G>A (p.Val32Met)
c.36G>A
c.-18G>A (n.-18G>A)
 dbSNP gnomAD v4
9g.127653721G>CCA375176178STXBP1c.52G>C (p.Val18Leu)
c.94G>C (p.Val32Leu)
c.36G>C
c.-18G>C (n.-18G>C)
9g.127653721G=CA1879900489STXBP1c.52G= (p.Val18=)
c.94G= (p.Val32=)
c.36G=
c.-18G= (n.-18G=)
9g.127653721G>TCA375176179STXBP1c.52G>T (p.Val18Leu)
c.94G>T (p.Val32Leu)
c.36G>T
c.-18G>T (n.-18G>T)
9g.127653722T>ACA375176181STXBP1c.53T>A (p.Val18Glu)
c.95T>A (p.Val32Glu)
c.37T>A
c.-17T>A (n.-17T>A)
9g.127653722T>CCA375176182STXBP1c.53T>C (p.Val18Ala)
c.95T>C (p.Val32Ala)
c.37T>C
c.-17T>C (n.-17T>C)
9g.127653722T>GCA375176180STXBP1c.53T>G (p.Val18Gly)
c.95T>G (p.Val32Gly)
c.37T>G
c.-17T>G (n.-17T>G)
9g.127653723G>ACA467433818STXBP1c.54G>A (p.Val18=)
c.96G>A (p.Val32=)
c.38G>A
c.-16G>A (n.-16G>A)
 gnomAD v4
9g.127653723G>CCA467433819STXBP1c.54G>C (p.Val18=)
c.96G>C (p.Val32=)
c.38G>C
c.-16G>C (n.-16G>C)
9g.127653723G>TCA467433820STXBP1c.54G>T (p.Val18=)
c.96G>T (p.Val32=)
c.38G>T
c.-16G>T (n.-16G>T)
 ClinVar
9g.127653724G>ACA375176183STXBP1c.55G>A (p.Val19Met)
c.97G>A (p.Val33Met)
c.39G>A
c.-15G>A (n.-15G>A)
9g.127653724G>CCA375176184STXBP1c.55G>C (p.Val19Leu)
c.97G>C (p.Val33Leu)
c.39G>C
c.-15G>C (n.-15G>C)
9g.127653724G>TCA375176185STXBP1c.55G>T (p.Val19Leu)
c.97G>T (p.Val33Leu)
c.39G>T
c.-15G>T (n.-15G>T)
9g.127653725T>ACA375176186STXBP1c.56T>A (p.Val19Glu)
c.98T>A (p.Val33Glu)
c.40T>A
c.-14T>A (n.-14T>A)
 ClinVar dbSNP
9g.127653725T>CCA375176187STXBP1c.56T>C (p.Val19Ala)
c.98T>C (p.Val33Ala)
c.40T>C
c.-14T>C (n.-14T>C)
9g.127653725T>GCA375176188STXBP1c.56T>G (p.Val19Gly)
c.98T>G (p.Val33Gly)
c.40T>G
c.-14T>G (n.-14T>G)
9g.127653725T=CA1879900490STXBP1c.56T= (p.Val19=)
c.98T= (p.Val33=)
c.40T=
c.-14T= (n.-14T=)
9g.127653726G>ACA201185125STXBP1c.57G>A (p.Val19=)
c.99G>A (p.Val33=)
c.41G>A
c.-13G>A (n.-13G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127653726G>CCA467433821STXBP1c.57G>C (p.Val19=)
c.99G>C (p.Val33=)
c.41G>C
c.-13G>C (n.-13G>C)
9g.127653726G=CA1879900491STXBP1c.57G= (p.Val19=)
c.99G= (p.Val33=)
c.41G=
c.-13G= (n.-13G=)
9g.127653726G>TCA467433822STXBP1c.57G>T (p.Val19=)
c.99G>T (p.Val33=)
c.41G>T
c.-13G>T (n.-13G>T)
9g.127653726_127653727delinsTCCA2695211174STXBP1c.57_58delinsTC (p.Asp20His)
c.99_100delinsTC (p.Asp34His)
c.41_42delinsTC
c.-13_-12delinsTC (n.-13_-12delinsTC)
9g.127653730_127653746delCA2580079559STXBP1c.61_77del (p.Gln21AlafsTer23)
c.103_119del (p.Gln35AlafsTer23)
c.103_119del (p.Gln35AlafsTer?)
c.103_119del (p.Gln35AlafsTer25)
c.45_61del
c.-9_8del
 ClinVar
9g.127653727G>ACA375176189STXBP1c.58G>A (p.Asp20Asn)
c.100G>A (p.Asp34Asn)
c.42G>A
c.-12G>A (n.-12G>A)
 ClinVar
9g.127653727G>CCA375176190STXBP1c.58G>C (p.Asp20His)
c.100G>C (p.Asp34His)
c.42G>C
c.-12G>C (n.-12G>C)
9g.127653727G>TCA375176191STXBP1c.58G>T (p.Asp20Tyr)
c.100G>T (p.Asp34Tyr)
c.42G>T
c.-12G>T (n.-12G>T)
 gnomAD v4
9g.127653728A>CCA375176192STXBP1c.59A>C (p.Asp20Ala)
c.101A>C (p.Asp34Ala)
c.43A>C
c.-11A>C (n.-11A>C)
9g.127653728A>GCA375176193STXBP1c.59A>G (p.Asp20Gly)
c.101A>G (p.Asp34Gly)
c.43A>G
c.-11A>G (n.-11A>G)
9g.127653728A>TCA375176194STXBP1c.59A>T (p.Asp20Val)
c.101A>T (p.Asp34Val)
c.43A>T
c.-11A>T (n.-11A>T)
9g.127653729T>ACA375176196STXBP1c.60T>A (p.Asp20Glu)
c.102T>A (p.Asp34Glu)
c.44T>A
c.-10T>A (n.-10T>A)
9g.127653729T>CCA467433823STXBP1c.60T>C (p.Asp20=)
c.102T>C (p.Asp34=)
c.44T>C
c.-10T>C (n.-10T>C)
9g.127653729T>GCA375176195STXBP1c.60T>G (p.Asp20Glu)
c.102T>G (p.Asp34Glu)
c.44T>G
c.-10T>G (n.-10T>G)
9g.127653730C>ACA375176197STXBP1c.61C>A (p.Gln21Lys)
c.103C>A (p.Gln35Lys)
c.45C>A
c.-9C>A (n.-9C>A)
9g.127653730C>GCA375176198STXBP1c.61C>G (p.Gln21Glu)
c.103C>G (p.Gln35Glu)
c.45C>G
c.-9C>G (n.-9C>G)
9g.127653730C>TCA375176199STXBP1c.61C>T (p.Gln21Ter)
c.103C>T (p.Gln35Ter)
c.45C>T
c.-9C>T (n.-9C>T)
 COSMIC COSMIC
9g.127653731A>CCA375176200STXBP1c.62A>C (p.Gln21Pro)
c.104A>C (p.Gln35Pro)
c.46A>C
c.-8A>C (n.-8A>C)
9g.127653731A>GCA375176201STXBP1c.62A>G (p.Gln21Arg)
c.104A>G (p.Gln35Arg)
c.46A>G
c.-8A>G (n.-8A>G)
9g.127653731A>TCA375176202STXBP1c.62A>T (p.Gln21Leu)
c.104A>T (p.Gln35Leu)
c.46A>T
c.-8A>T (n.-8A>T)
9g.127653732G>ACA467433824STXBP1c.63G>A (p.Gln21=)
c.105G>A (p.Gln35=)
c.47G>A
c.-7G>A (n.-7G>A)
9g.127653732G>CCA375176203STXBP1c.63G>C (p.Gln21His)
c.105G>C (p.Gln35His)
c.47G>C
c.-7G>C (n.-7G>C)
 dbSNP gnomAD v3 gnomAD v4
9g.127653732G=CA1879900492STXBP1c.63G= (p.Gln21=)
c.105G= (p.Gln35=)
c.47G=
c.-7G= (n.-7G=)
9g.127653732G>TCA375176204STXBP1c.63G>T (p.Gln21His)
c.105G>T (p.Gln35His)
c.47G>T
c.-7G>T (n.-7G>T)
9g.127653733T>ACA375176205STXBP1c.64T>A (p.Leu22Ile)
c.106T>A (p.Leu36Ile)
c.48T>A
c.-6T>A (n.-6T>A)
9g.127653733T>CCA5248223STXBP1c.64T>C (p.Leu22=)
c.106T>C (p.Leu36=)
c.48T>C
c.-6T>C (n.-6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127653733T>GCA375176206STXBP1c.64T>G (p.Leu22Val)
c.106T>G (p.Leu36Val)
c.48T>G
c.-6T>G (n.-6T>G)
9g.127653733T=CA1879900494STXBP1c.64T= (p.Leu22=)
c.106T= (p.Leu36=)
c.48T=
c.-6T= (n.-6T=)
9g.127653734T>ACA375176207STXBP1c.65T>A (p.Leu22Ter)
c.107T>A (p.Leu36Ter)
c.49T>A
c.-5T>A (n.-5T>A)
 ClinVar
9g.127653734T>CCA375176208STXBP1c.65T>C (p.Leu22Ser)
c.107T>C (p.Leu36Ser)
c.49T>C
c.-5T>C (n.-5T>C)
9g.127653734T>GCA375176209STXBP1c.65T>G (p.Leu22Ter)
c.107T>G (p.Leu36Ter)
c.49T>G
c.-5T>G (n.-5T>G)
 ClinVar dbSNP
9g.127653734T=CA1879900495STXBP1c.65T= (p.Leu22=)
c.107T= (p.Leu36=)
c.49T=
c.-5T= (n.-5T=)
9g.127653735A>CCA375176210STXBP1c.66A>C (p.Leu22Phe)
c.108A>C (p.Leu36Phe)
c.50A>C
c.-4A>C (n.-4A>C)
9g.127653735A>GCA467433825STXBP1c.66A>G (p.Leu22=)
c.108A>G (p.Leu36=)
c.50A>G
c.-4A>G (n.-4A>G)
9g.127653735A>TCA375176211STXBP1c.66A>T (p.Leu22Phe)
c.108A>T (p.Leu36Phe)
c.50A>T
c.-4A>T (n.-4A>T)
9g.127653736A>CCA375176212STXBP1c.67A>C (p.Ser23Arg)
c.109A>C (p.Ser37Arg)
c.51A>C
c.-3A>C (n.-3A>C)
9g.127653736A>GCA375176213STXBP1c.67A>G (p.Ser23Gly)
c.109A>G (p.Ser37Gly)
c.51A>G
c.-3A>G (n.-3A>G)
9g.127653736A>TCA375176214STXBP1c.67A>T (p.Ser23Cys)
c.109A>T (p.Ser37Cys)
c.51A>T
c.-3A>T (n.-3A>T)
 COSMIC COSMIC
9g.127653737G>ACA375176215STXBP1c.68G>A (p.Ser23Asn)
c.110G>A (p.Ser37Asn)
c.52G>A
c.-2G>A (n.-2G>A)
9g.127653737G>CCA375176216STXBP1c.68G>C (p.Ser23Thr)
c.110G>C (p.Ser37Thr)
c.52G>C
c.-2G>C (n.-2G>C)
9g.127653737G>TCA375176217STXBP1c.68G>T (p.Ser23Ile)
c.110G>T (p.Ser37Ile)
c.52G>T
c.-2G>T (n.-2G>T)
9g.127653738C>ACA375176219STXBP1c.69C>A (p.Ser23Arg)
c.111C>A (p.Ser37Arg)
c.53C>A
c.-1C>A (n.-1C>A)
9g.127653738C>GCA375176218STXBP1c.69C>G (p.Ser23Arg)
c.111C>G (p.Ser37Arg)
c.53C>G
c.-1C>G (n.-1C>G)
9g.127653738C>TCA467433826STXBP1c.69C>T (p.Ser23=)
c.111C>T (p.Ser37=)
c.53C>T
c.-1C>T (n.-1C>T)
9g.127653739A>CCA375176220STXBP1c.70A>C (p.Met24Leu)
c.112A>C (p.Met38Leu)
c.54A>C
c.1A>C (p.Met1Leu)
9g.127653739A>GCA375176221STXBP1c.70A>G (p.Met24Val)
c.112A>G (p.Met38Val)
c.54A>G
c.1A>G (p.Met1Val)
9g.127653739A>TCA375176222STXBP1c.70A>T (p.Met24Leu)
c.112A>T (p.Met38Leu)
c.54A>T
c.1A>T (p.Met1Leu)
9g.127653740T>ACA375176223STXBP1c.71T>A (p.Met24Lys)
c.113T>A (p.Met38Lys)
c.55T>A
c.2T>A (p.Met1Lys)
9g.127653740T>CCA201185127STXBP1c.71T>C (p.Met24Thr)
c.113T>C (p.Met38Thr)
c.55T>C
c.2T>C (p.Met1Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127653740T>GCA375176224STXBP1c.71T>G (p.Met24Arg)
c.113T>G (p.Met38Arg)
c.55T>G
c.2T>G (p.Met1Arg)
9g.127653740T=CA1879900496STXBP1c.71T= (p.Met24=)
c.113T= (p.Met38=)
c.55T=
c.2T= (p.Met1=)
9g.127653741G>ACA375176227STXBP1c.72G>A (p.Met24Ile)
c.114G>A (p.Met38Ile)
c.56G>A
c.3G>A (p.Met1Ile)
9g.127653741G>CCA375176225STXBP1c.72G>C (p.Met24Ile)
c.114G>C (p.Met38Ile)
c.56G>C
c.3G>C (p.Met1Ile)
9g.127653741G>TCA375176226STXBP1c.72G>T (p.Met24Ile)
c.114G>T (p.Met38Ile)
c.56G>T
c.3G>T (p.Met1Ile)
9g.127653743_127653745dupCA915947148STXBP1c.74_76dup (p.Arg25_Met26insArg)
c.116_118dup (p.Arg39_Met40insArg)
c.58_60dup
c.5_7dup (p.Arg2_Met3insArg)
 ClinVar dbSNP
9g.127653742A>CCA467433827STXBP1c.73A>C (p.Arg25=)
c.115A>C (p.Arg39=)
c.57A>C
c.4A>C (p.Arg2=)
9g.127653742A>GCA375176228STXBP1c.73A>G (p.Arg25Gly)
c.115A>G (p.Arg39Gly)
c.57A>G
c.4A>G (p.Arg2Gly)
9g.127653742A>TCA375176229STXBP1c.73A>T (p.Arg25Trp)
c.115A>T (p.Arg39Trp)
c.57A>T
c.4A>T (p.Arg2Trp)
9g.127653743G>ACA375176230STXBP1c.74G>A (p.Arg25Lys)
c.116G>A (p.Arg39Lys)
c.58G>A
c.5G>A (p.Arg2Lys)
 dbSNP
9g.127653743G>CCA375176231STXBP1c.74G>C (p.Arg25Thr)
c.116G>C (p.Arg39Thr)
c.58G>C
c.5G>C (p.Arg2Thr)
9g.127653743G>TCA375176232STXBP1c.74G>T (p.Arg25Met)
c.116G>T (p.Arg39Met)
c.58G>T
c.5G>T (p.Arg2Met)
9g.127653744G>ACA467433828STXBP1c.75G>A (p.Arg25=)
c.117G>A (p.Arg39=)
c.59G>A
c.6G>A (p.Arg2=)
9g.127653744G>CCA375176233STXBP1c.75G>C (p.Arg25Ser)
c.117G>C (p.Arg39Ser)
c.59G>C
c.6G>C (p.Arg2Ser)
9g.127653744G>TCA375176234STXBP1c.75G>T (p.Arg25Ser)
c.117G>T (p.Arg39Ser)
c.59G>T
c.6G>T (p.Arg2Ser)
 ClinVar dbSNP
9g.127653745A=CA1879900499STXBP1c.76A= (p.Met26=)
c.118A= (p.Met40=)
c.60A=
c.7A= (p.Met3=)
9g.127653745A>CCA375176235STXBP1c.76A>C (p.Met26Leu)
c.118A>C (p.Met40Leu)
c.60A>C
c.7A>C (p.Met3Leu)
9g.127653745A>GCA375176236STXBP1c.76A>G (p.Met26Val)
c.118A>G (p.Met40Val)
c.60A>G
c.7A>G (p.Met3Val)
9g.127653745A>TCA375176237STXBP1c.76A>T (p.Met26Leu)
c.118A>T (p.Met40Leu)
c.60A>T
c.7A>T (p.Met3Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.127653746T>ACA375176238STXBP1c.77T>A (p.Met26Lys)
c.119T>A (p.Met40Lys)
c.61T>A
c.8T>A (p.Met3Lys)
 ClinVar dbSNP
9g.127653746T>CCA375176239STXBP1c.77T>C (p.Met26Thr)
c.119T>C (p.Met40Thr)
c.61T>C
c.8T>C (p.Met3Thr)
9g.127653746T>GCA375176240STXBP1c.77T>G (p.Met26Arg)
c.119T>G (p.Met40Arg)
c.61T>G
c.8T>G (p.Met3Arg)
9g.127653746T=CA1879900500STXBP1c.77T= (p.Met26=)
c.119T= (p.Met40=)
c.61T=
c.8T= (p.Met3=)
9g.127653747G>ACA375176241STXBP1c.78G>A (p.Met26Ile)
c.120G>A (p.Met40Ile)
c.62G>A
c.9G>A (p.Met3Ile)
9g.127653747G>CCA375176243STXBP1c.78G>C (p.Met26Ile)
c.120G>C (p.Met40Ile)
c.62G>C
c.9G>C (p.Met3Ile)
9g.127653747G>TCA375176242STXBP1c.78G>T (p.Met26Ile)
c.120G>T (p.Met40Ile)
c.62G>T
c.9G>T (p.Met3Ile)
9g.127653748C>ACA375176244STXBP1c.79C>A (p.Leu27Met)
c.121C>A (p.Leu41Met)
c.63C>A
c.10C>A (p.Leu4Met)
9g.127653748C>GCA375176245STXBP1c.79C>G (p.Leu27Val)
c.121C>G (p.Leu41Val)
c.63C>G
c.10C>G (p.Leu4Val)
9g.127653748C>TCA467433829STXBP1c.79C>T (p.Leu27=)
c.121C>T (p.Leu41=)
c.63C>T
c.10C>T (p.Leu4=)
9g.127653749T>ACA375176246STXBP1c.80T>A (p.Leu27Gln)
c.122T>A (p.Leu41Gln)
c.64T>A
c.11T>A (p.Leu4Gln)
 ClinVar
9g.127653749T>CCA375176247STXBP1c.80T>C (p.Leu27Pro)
c.122T>C (p.Leu41Pro)
c.64T>C
c.11T>C (p.Leu4Pro)
9g.127653749T>GCA375176248STXBP1c.80T>G (p.Leu27Arg)
c.122T>G (p.Leu41Arg)
c.64T>G
c.11T>G (p.Leu4Arg)
 ClinVar dbSNP
9g.127653750G>ACA467433830STXBP1c.81G>A (p.Leu27=)
c.123G>A (p.Leu41=)
c.65G>A
c.12G>A (p.Leu4=)
 ClinVar dbSNP
9g.127653750G>CCA201185129STXBP1c.81G>C (p.Leu27=)
c.123G>C (p.Leu41=)
c.65G>C
c.12G>C (p.Leu4=)
 ClinVar dbSNP gnomAD v4
9g.127653750G=CA1879900501STXBP1c.81G= (p.Leu27=)
c.123G= (p.Leu41=)
c.65G=
c.12G= (p.Leu4=)
9g.127653750G>TCA467433831STXBP1c.81G>T (p.Leu27=)
c.123G>T (p.Leu41=)
c.65G>T
c.12G>T (p.Leu4=)
9g.127653750_127653751delinsGTCA1879900502STXBP1c.81_82delinsGT (p.Leu27=)
c.123_124delinsGT (p.Leu41=)
c.65_66delinsGT
c.12_13delinsGT (p.Leu4=)
9g.127653750_127653753delinsGTCCCA1879900503STXBP1c.81_84delinsGTCC (p.Leu27=)
c.123_126delinsGTCC (p.Leu41=)
c.65_68delinsGTCC
c.12_15delinsGTCC (p.Leu4=)
9g.127653751delCA318904STXBP1c.82del (p.Ser28ProfsTer6)
c.124del (p.Ser42ProfsTer6)
c.66del
c.13del (p.Ser5ProfsTer6)
 ClinVar dbSNP
9g.127653751T>ACA375176249STXBP1c.82T>A (p.Ser28Thr)
c.124T>A (p.Ser42Thr)
c.66T>A
c.13T>A (p.Ser5Thr)
9g.127653751T>CCA10603014STXBP1c.82T>C (p.Ser28Pro)
c.124T>C (p.Ser42Pro)
c.66T>C
c.13T>C (p.Ser5Pro)
 ClinVar dbSNP
9g.127653751T>GCA375176250STXBP1c.82T>G (p.Ser28Ala)
c.124T>G (p.Ser42Ala)
c.66T>G
c.13T>G (p.Ser5Ala)
9g.127653751T=CA1879900508STXBP1c.82T= (p.Ser28=)
c.124T= (p.Ser42=)
c.66T=
c.13T= (p.Ser5=)
9g.127653755_127653757delCA318905STXBP1c.86_88del (p.Ser29del)
c.128_130del (p.Ser43del)
c.70_72del
c.17_19del (p.Ser6del)
 ClinVar dbSNP
9g.127653752C>ACA375176251STXBP1c.83C>A (p.Ser28Tyr)
c.125C>A (p.Ser42Tyr)
c.67C>A
c.14C>A (p.Ser5Tyr)
 ClinVar dbSNP
9g.127653752C=CA1879900515STXBP1c.83C= (p.Ser28=)
c.125C= (p.Ser42=)
c.67C=
c.14C= (p.Ser5=)
9g.127653752C>GCA375176252STXBP1c.83C>G (p.Ser28Cys)
c.125C>G (p.Ser42Cys)
c.67C>G
c.14C>G (p.Ser5Cys)
9g.127653752C>TCA375176253STXBP1c.83C>T (p.Ser28Phe)
c.125C>T (p.Ser42Phe)
c.67C>T
c.14C>T (p.Ser5Phe)
9g.127653753C>ACA467433832STXBP1c.84C>A (p.Ser28=)
c.126C>A (p.Ser42=)
c.68C>A
c.15C>A (p.Ser5=)
9g.127653753C>GCA467433833STXBP1c.84C>G (p.Ser28=)
c.126C>G (p.Ser42=)
c.68C>G
c.15C>G (p.Ser5=)
9g.127653753C>TCA467433834STXBP1c.84C>T (p.Ser28=)
c.126C>T (p.Ser42=)
c.68C>T
c.15C>T (p.Ser5=)
9g.127653754T>ACA375176256STXBP1c.85T>A (p.Ser29Thr)
c.127T>A (p.Ser43Thr)
c.69T>A
c.16T>A (p.Ser6Thr)
9g.127653754T>CCA375176254STXBP1c.85T>C (p.Ser29Pro)
c.127T>C (p.Ser43Pro)
c.69T>C
c.16T>C (p.Ser6Pro)
9g.127653754T>GCA375176255STXBP1c.85T>G (p.Ser29Ala)
c.127T>G (p.Ser43Ala)
c.69T>G
c.16T>G (p.Ser6Ala)
 gnomAD v4
9g.127653755C>ACA375176257STXBP1c.86C>A (p.Ser29Tyr)
c.128C>A (p.Ser43Tyr)
c.70C>A
c.17C>A (p.Ser6Tyr)
9g.127653755C>GCA375176258STXBP1c.86C>G (p.Ser29Cys)
c.128C>G (p.Ser43Cys)
c.70C>G
c.17C>G (p.Ser6Cys)
9g.127653755C>TCA375176259STXBP1c.86C>T (p.Ser29Phe)
c.128C>T (p.Ser43Phe)
c.70C>T
c.17C>T (p.Ser6Phe)
 COSMIC COSMIC
9g.127653756C>ACA467433835STXBP1c.87C>A (p.Ser29=)
c.129C>A (p.Ser43=)
c.71C>A
c.18C>A (p.Ser6=)
9g.127653756C=CA1879900519STXBP1c.87C= (p.Ser29=)
c.129C= (p.Ser43=)
c.71C=
c.18C= (p.Ser6=)
9g.127653756C>GCA5248224STXBP1c.87C>G (p.Ser29=)
c.129C>G (p.Ser43=)
c.71C>G
c.18C>G (p.Ser6=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127653756C>TCA467433836STXBP1c.87C>T (p.Ser29=)
c.129C>T (p.Ser43=)
c.71C>T
c.18C>T (p.Ser6=)
9g.127653760_127653762delCA2580616303STXBP1c.91_93del (p.Cys31del)
c.133_135del (p.Cys45del)
c.75_77del
c.22_24del (p.Cys8del)
 ClinVar dbSNP
9g.127653757T>ACA375176260STXBP1c.88T>A (p.Cys30Ser)
c.130T>A (p.Cys44Ser)
c.72T>A
c.19T>A (p.Cys7Ser)
9g.127653757T>CCA375176261STXBP1c.88T>C (p.Cys30Arg)
c.130T>C (p.Cys44Arg)
c.72T>C
c.19T>C (p.Cys7Arg)
9g.127653757T>GCA375176262STXBP1c.88T>G (p.Cys30Gly)
c.130T>G (p.Cys44Gly)
c.72T>G
c.19T>G (p.Cys7Gly)
9g.127653758G>ACA375176263STXBP1c.89G>A (p.Cys30Tyr)
c.131G>A (p.Cys44Tyr)
c.73G>A
c.20G>A (p.Cys7Tyr)
9g.127653758G>CCA375176264STXBP1c.89G>C (p.Cys30Ser)
c.131G>C (p.Cys44Ser)
c.73G>C
c.20G>C (p.Cys7Ser)
9g.127653758G>TCA375176265STXBP1c.89G>T (p.Cys30Phe)
c.131G>T (p.Cys44Phe)
c.73G>T
c.20G>T (p.Cys7Phe)
9g.127653759C>ACA375176266STXBP1c.90C>A (p.Cys30Ter)
c.132C>A (p.Cys44Ter)
c.74C>A
c.21C>A (p.Cys7Ter)
9g.127653759C=CA1879900523STXBP1c.90C= (p.Cys30=)
c.132C= (p.Cys44=)
c.74C=
c.21C= (p.Cys7=)
9g.127653759C>GCA375176267STXBP1c.90C>G (p.Cys30Trp)
c.132C>G (p.Cys44Trp)
c.74C>G
c.21C>G (p.Cys7Trp)
9g.127653759C>TCA5248225STXBP1c.90C>T (p.Cys30=)
c.132C>T (p.Cys44=)
c.74C>T
c.21C>T (p.Cys7=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127653760T>ACA375176268STXBP1c.91T>A (p.Cys31Ser)
c.133T>A (p.Cys45Ser)
c.75T>A
c.22T>A (p.Cys8Ser)
9g.127653760T>CCA375176270STXBP1c.91T>C (p.Cys31Arg)
c.133T>C (p.Cys45Arg)
c.75T>C
c.22T>C (p.Cys8Arg)
9g.127653760T>GCA375176269STXBP1c.91T>G (p.Cys31Gly)
c.133T>G (p.Cys45Gly)
c.75T>G
c.22T>G (p.Cys8Gly)
9g.127653761G>ACA375176271STXBP1c.92G>A (p.Cys31Tyr)
c.134G>A (p.Cys45Tyr)
c.76G>A
c.23G>A (p.Cys8Tyr)
9g.127653761G>CCA375176273STXBP1c.92G>C (p.Cys31Ser)
c.134G>C (p.Cys45Ser)
c.76G>C
c.23G>C (p.Cys8Ser)
9g.127653761G=CA1879900527STXBP1c.92G= (p.Cys31=)
c.134G= (p.Cys45=)
c.76G=
c.23G= (p.Cys8=)
9g.127653761G>TCA375176272STXBP1c.92G>T (p.Cys31Phe)
c.134G>T (p.Cys45Phe)
c.76G>T
c.23G>T (p.Cys8Phe)
 ClinVar dbSNP gnomAD v4
9g.127653762C>ACA375176274STXBP1c.93C>A (p.Cys31Ter)
c.135C>A (p.Cys45Ter)
c.77C>A
c.24C>A (p.Cys8Ter)
9g.127653762C=CA1879900530STXBP1c.93C= (p.Cys31=)
c.135C= (p.Cys45=)
c.77C=
c.24C= (p.Cys8=)
9g.127653762C>GCA375176275STXBP1c.93C>G (p.Cys31Trp)
c.135C>G (p.Cys45Trp)
c.77C>G
c.24C>G (p.Cys8Trp)
9g.127653762C>TCA467433837STXBP1c.93C>T (p.Cys31=)
c.135C>T (p.Cys45=)
c.77C>T
c.24C>T (p.Cys8=)
 dbSNP gnomAD v2 gnomAD v4
9g.127653763A=CA1879900536STXBP1c.94A= (p.Lys32=)
c.136A= (p.Lys46=)
c.78A=
c.25A= (p.Lys9=)
9g.127653763A>CCA375176276STXBP1c.94A>C (p.Lys32Gln)
c.136A>C (p.Lys46Gln)
c.78A>C
c.25A>C (p.Lys9Gln)
9g.127653763A>GCA375176277STXBP1c.94A>G (p.Lys32Glu)
c.136A>G (p.Lys46Glu)
c.78A>G
c.25A>G (p.Lys9Glu)
 ClinVar dbSNP
9g.127653763A>TCA375176278STXBP1c.94A>T (p.Lys32Ter)
c.136A>T (p.Lys46Ter)
c.78A>T
c.25A>T (p.Lys9Ter)
9g.127653764A>CCA375176279STXBP1c.95A>C (p.Lys32Thr)
c.137A>C (p.Lys46Thr)
c.79A>C
c.26A>C (p.Lys9Thr)
9g.127653764A>GCA375176280STXBP1c.95A>G (p.Lys32Arg)
c.137A>G (p.Lys46Arg)
c.79A>G
c.26A>G (p.Lys9Arg)
 COSMIC COSMIC
9g.127653764A>TCA375176281STXBP1c.95A>T (p.Lys32Met)
c.137A>T (p.Lys46Met)
c.79A>T
c.26A>T (p.Lys9Met)
9g.127653765G>ACA467433838STXBP1c.96G>A (p.Lys32=)
c.138G>A (p.Lys46=)
c.80G>A
c.27G>A (p.Lys9=)
9g.127653765G>CCA375176282STXBP1c.96G>C (p.Lys32Asn)
c.138G>C (p.Lys46Asn)
c.80G>C
c.27G>C (p.Lys9Asn)
9g.127653765G>TCA375176283STXBP1c.96G>T (p.Lys32Asn)
c.138G>T (p.Lys46Asn)
c.80G>T
c.27G>T (p.Lys9Asn)
9g.127653766A>CCA375176284STXBP1c.97A>C (p.Met33Leu)
c.139A>C (p.Met47Leu)
c.81A>C
c.28A>C (p.Met10Leu)
9g.127653766A>GCA375176285STXBP1c.97A>G (p.Met33Val)
c.139A>G (p.Met47Val)
c.81A>G
c.28A>G (p.Met10Val)
9g.127653766A>TCA375176286STXBP1c.97A>T (p.Met33Leu)
c.139A>T (p.Met47Leu)
c.81A>T
c.28A>T (p.Met10Leu)
9g.127653767T>ACA375176289STXBP1c.98T>A (p.Met33Lys)
c.140T>A (p.Met47Lys)
c.82T>A
c.29T>A (p.Met10Lys)
9g.127653767T>CCA375176287STXBP1c.98T>C (p.Met33Thr)
c.140T>C (p.Met47Thr)
c.82T>C
c.29T>C (p.Met10Thr)
9g.127653767T>GCA375176288STXBP1c.98T>G (p.Met33Arg)
c.140T>G (p.Met47Arg)
c.82T>G
c.29T>G (p.Met10Arg)
9g.127653768G>ACA375176290STXBP1c.99G>A (p.Met33Ile)
c.141G>A (p.Met47Ile)
c.83G>A
c.30G>A (p.Met10Ile)
9g.127653768G>CCA375176291STXBP1c.99G>C (p.Met33Ile)
c.141G>C (p.Met47Ile)
c.83G>C
c.30G>C (p.Met10Ile)
9g.127653768G>TCA375176292STXBP1c.99G>T (p.Met33Ile)
c.141G>T (p.Met47Ile)
c.83G>T
c.30G>T (p.Met10Ile)
9g.127653772_127653775delCA2580616304STXBP1c.103_106del (p.Asp35SerfsTer2)
c.145_148del (p.Asp49SerfsTer2)
c.87_90del
c.34_37del (p.Asp12SerfsTer2)
 ClinVar dbSNP
9g.127653769A>CCA375176293STXBP1c.100A>C (p.Thr34Pro)
c.142A>C (p.Thr48Pro)
c.84A>C
c.31A>C (p.Thr11Pro)
9g.127653769A>GCA375176294STXBP1c.100A>G (p.Thr34Ala)
c.142A>G (p.Thr48Ala)
c.84A>G
c.31A>G (p.Thr11Ala)
9g.127653769A>TCA375176295STXBP1c.100A>T (p.Thr34Ser)
c.142A>T (p.Thr48Ser)
c.84A>T
c.31A>T (p.Thr11Ser)
9g.127653770C>ACA375176296STXBP1c.101C>A (p.Thr34Lys)
c.143C>A (p.Thr48Lys)
c.85C>A
c.32C>A (p.Thr11Lys)
9g.127653770C>GCA375176297STXBP1c.101C>G (p.Thr34Arg)
c.143C>G (p.Thr48Arg)
c.85C>G
c.32C>G (p.Thr11Arg)
9g.127653770C>TCA375176298STXBP1c.101C>T (p.Thr34Ile)
c.143C>T (p.Thr48Ile)
c.85C>T
c.32C>T (p.Thr11Ile)
9g.127653771A=CA1879900543STXBP1c.102A= (p.Thr34=)
c.144A= (p.Thr48=)
c.86A=
c.33A= (p.Thr11=)
9g.127653771A>CCA467433839STXBP1c.102A>C (p.Thr34=)
c.144A>C (p.Thr48=)
c.86A>C
c.33A>C (p.Thr11=)
 ClinVar dbSNP gnomAD v4
9g.127653771A>GCA467433841STXBP1c.102A>G (p.Thr34=)
c.144A>G (p.Thr48=)
c.86A>G
c.33A>G (p.Thr11=)
9g.127653771A>TCA467433840STXBP1c.102A>T (p.Thr34=)
c.144A>T (p.Thr48=)
c.86A>T
c.33A>T (p.Thr11=)
9g.127653772G>ACA375176299STXBP1c.103G>A (p.Asp35Asn)
c.145G>A (p.Asp49Asn)
c.87G>A
c.34G>A (p.Asp12Asn)
9g.127653772G>CCA375176300STXBP1c.103G>C (p.Asp35His)
c.145G>C (p.Asp49His)
c.87G>C
c.34G>C (p.Asp12His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127653772G=CA1879900548STXBP1c.103G= (p.Asp35=)
c.145G= (p.Asp49=)
c.87G=
c.34G= (p.Asp12=)
9g.127653772G>TCA375176301STXBP1c.103G>T (p.Asp35Tyr)
c.145G>T (p.Asp49Tyr)
c.87G>T
c.34G>T (p.Asp12Tyr)
9g.127653773A=CA1879900550STXBP1c.104A= (p.Asp35=)
c.146A= (p.Asp49=)
c.88A=
c.35A= (p.Asp12=)
9g.127653773A>CCA375176302STXBP1c.104A>C (p.Asp35Ala)
c.146A>C (p.Asp49Ala)
c.88A>C
c.35A>C (p.Asp12Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.127653773A>GCA375176304STXBP1c.104A>G (p.Asp35Gly)
c.146A>G (p.Asp49Gly)
c.88A>G
c.35A>G (p.Asp12Gly)
9g.127653773A>TCA375176303STXBP1c.104A>T (p.Asp35Val)
c.146A>T (p.Asp49Val)
c.88A>T
c.35A>T (p.Asp12Val)
9g.127653774C>ACA375176305STXBP1c.105C>A (p.Asp35Glu)
c.147C>A (p.Asp49Glu)
c.89C>A
c.36C>A (p.Asp12Glu)
9g.127653774C=CA1879900552STXBP1c.105C= (p.Asp35=)
c.147C= (p.Asp49=)
c.89C=
c.36C= (p.Asp12=)
9g.127653774C>GCA375176306STXBP1c.105C>G (p.Asp35Glu)
c.147C>G (p.Asp49Glu)
c.89C>G
c.36C>G (p.Asp12Glu)
9g.127653774C>TCA467433842STXBP1c.105C>T (p.Asp35=)
c.147C>T (p.Asp49=)
c.89C>T
c.36C>T (p.Asp12=)
 ClinVar dbSNP
9g.127653777_127653779delCA2695211175STXBP1c.108_110del (p.Ile36del)
c.150_152del (p.Ile50del)
c.92_94del
c.39_41del (p.Ile13del)
9g.127653775A=CA1879900560STXBP1c.106A= (p.Ile36=)
c.148A= (p.Ile50=)
c.90A=
c.37A= (p.Ile13=)
9g.127653775A>CCA375176307STXBP1c.106A>C (p.Ile36Leu)
c.148A>C (p.Ile50Leu)
c.90A>C
c.37A>C (p.Ile13Leu)
9g.127653775A>GCA5248226STXBP1c.106A>G (p.Ile36Val)
c.148A>G (p.Ile50Val)
c.90A>G
c.37A>G (p.Ile13Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127653775A>TCA375176308STXBP1c.106A>T (p.Ile36Phe)
c.148A>T (p.Ile50Phe)
c.90A>T
c.37A>T (p.Ile13Phe)
9g.127653775dupCA16042628STXBP1c.106dup (p.Ile36AsnfsTer14)
c.148dup (p.Ile50AsnfsTer14)
c.148dup (p.Ile50AsnfsTer?)
c.148dup (p.Ile50AsnfsTer16)
c.90dup
c.37dup (p.Ile13AsnfsTer14)
 ClinVar dbSNP
9g.127653775_127653776delCA2580079567STXBP1c.106_107del (p.Ile36HisfsTer13)
c.148_149del (p.Ile50HisfsTer13)
c.148_149del (p.Ile50HisfsTer?)
c.148_149del (p.Ile50HisfsTer15)
c.90_91del
c.37_38del (p.Ile13HisfsTer13)
 ClinVar
9g.127653776T>ACA375176309STXBP1c.107T>A (p.Ile36Asn)
c.149T>A (p.Ile50Asn)
c.91T>A
c.38T>A (p.Ile13Asn)
9g.127653776T>CCA375176310STXBP1c.107T>C (p.Ile36Thr)
c.149T>C (p.Ile50Thr)
c.91T>C
c.38T>C (p.Ile13Thr)
9g.127653776T>GCA375176311STXBP1c.107T>G (p.Ile36Ser)
c.149T>G (p.Ile50Ser)
c.91T>G
c.38T>G (p.Ile13Ser)
9g.127653777C>ACA467433843STXBP1c.108C>A (p.Ile36=)
c.150C>A (p.Ile50=)
c.92C>A
c.39C>A (p.Ile13=)
9g.127653777C=CA1879900563STXBP1c.108C= (p.Ile36=)
c.150C= (p.Ile50=)
c.92C=
c.39C= (p.Ile13=)
9g.127653777C>GCA375176312STXBP1c.108C>G (p.Ile36Met)
c.150C>G (p.Ile50Met)
c.92C>G
c.39C>G (p.Ile13Met)
9g.127653777C>TCA467433845STXBP1c.108C>T (p.Ile36=)
c.150C>T (p.Ile50=)
c.92C>T
c.39C>T (p.Ile13=)
 dbSNP gnomAD v4
9g.127653778A=CA1879900567STXBP1c.109A= (p.Met37=)
c.151A= (p.Met51=)
c.93A=
c.40A= (p.Met14=)
9g.127653778A>CCA375176313STXBP1c.109A>C (p.Met37Leu)
c.151A>C (p.Met51Leu)
c.93A>C
c.40A>C (p.Met14Leu)
9g.127653778A>GCA375176314STXBP1c.109A>G (p.Met37Val)
c.151A>G (p.Met51Val)
c.93A>G
c.40A>G (p.Met14Val)
 dbSNP gnomAD v3 gnomAD v4
9g.127653778A>TCA375176315STXBP1c.109A>T (p.Met37Leu)
c.151A>T (p.Met51Leu)
c.93A>T
c.40A>T (p.Met14Leu)
9g.127653779T>ACA375176318STXBP1c.110T>A (p.Met37Lys)
c.152T>A (p.Met51Lys)
c.94T>A
c.41T>A (p.Met14Lys)
9g.127653779T>CCA375176316STXBP1c.110T>C (p.Met37Thr)
c.152T>C (p.Met51Thr)
c.94T>C
c.41T>C (p.Met14Thr)
9g.127653779T>GCA375176317STXBP1c.110T>G (p.Met37Arg)
c.152T>G (p.Met51Arg)
c.94T>G
c.41T>G (p.Met14Arg)
9g.127653780G>ACA375176319STXBP1c.111G>A (p.Met37Ile)
c.153G>A (p.Met51Ile)
c.95G>A
c.42G>A (p.Met14Ile)
9g.127653780G>CCA375176320STXBP1c.111G>C (p.Met37Ile)
c.153G>C (p.Met51Ile)
c.95G>C
c.42G>C (p.Met14Ile)
9g.127653780G>TCA375176321STXBP1c.111G>T (p.Met37Ile)
c.153G>T (p.Met51Ile)
c.95G>T
c.42G>T (p.Met14Ile)
 gnomAD v4
9g.127653781A>CCA375176322STXBP1c.112A>C (p.Thr38Pro)
c.154A>C (p.Thr52Pro)
c.96A>C
c.43A>C (p.Thr15Pro)
9g.127653781A>GCA375176323STXBP1c.112A>G (p.Thr38Ala)
c.154A>G (p.Thr52Ala)
c.96A>G
c.43A>G (p.Thr15Ala)
9g.127653781A>TCA375176324STXBP1c.112A>T (p.Thr38Ser)
c.154A>T (p.Thr52Ser)
c.96A>T
c.43A>T (p.Thr15Ser)
9g.127653782C>ACA375176325STXBP1c.113C>A (p.Thr38Asn)
c.155C>A (p.Thr52Asn)
c.97C>A
c.44C>A (p.Thr15Asn)
9g.127653782C>GCA375176326STXBP1c.113C>G (p.Thr38Ser)
c.155C>G (p.Thr52Ser)
c.97C>G
c.44C>G (p.Thr15Ser)
9g.127653782C>TCA375176327STXBP1c.113C>T (p.Thr38Ile)
c.155C>T (p.Thr52Ile)
c.97C>T
c.44C>T (p.Thr15Ile)
9g.127653783C>ACA467433846STXBP1c.114C>A (p.Thr38=)
c.156C>A (p.Thr52=)
c.98C>A
c.45C>A (p.Thr15=)
9g.127653783C=CA1879900571STXBP1c.114C= (p.Thr38=)
c.156C= (p.Thr52=)
c.98C=
c.45C= (p.Thr15=)
9g.127653783C>GCA467433847STXBP1c.114C>G (p.Thr38=)
c.156C>G (p.Thr52=)
c.98C>G
c.45C>G (p.Thr15=)
9g.127653783C>TCA5248227STXBP1c.114C>T (p.Thr38=)
c.156C>T (p.Thr52=)
c.98C>T
c.45C>T (p.Thr15=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127653784G>ACA375176329STXBP1c.115G>A (p.Glu39Lys)
c.157G>A (p.Glu53Lys)
c.99G>A
c.46G>A (p.Glu16Lys)
9g.127653784G>CCA5248228STXBP1c.115G>C (p.Glu39Gln)
c.157G>C (p.Glu53Gln)
c.99G>C
c.46G>C (p.Glu16Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127653784G=CA1879900580STXBP1c.115G= (p.Glu39=)
c.157G= (p.Glu53=)
c.99G=
c.46G= (p.Glu16=)
9g.127653784G>TCA375176328STXBP1c.115G>T (p.Glu39Ter)
c.157G>T (p.Glu53Ter)
c.99G>T
c.46G>T (p.Glu16Ter)
 ClinVar dbSNP
9g.127653785A>CCA375176330STXBP1c.116A>C (p.Glu39Ala)
c.158A>C (p.Glu53Ala)
c.100A>C
c.47A>C (p.Glu16Ala)
9g.127653785A>GCA375176332STXBP1c.116A>G (p.Glu39Gly)
c.158A>G (p.Glu53Gly)
c.100A>G
c.47A>G (p.Glu16Gly)
9g.127653785A>TCA375176331STXBP1c.116A>T (p.Glu39Val)
c.158A>T (p.Glu53Val)
c.100A>T
c.47A>T (p.Glu16Val)
9g.127653786G>ACA467433848STXBP1c.117G>A (p.Glu39=)
c.159G>A (p.Glu53=)
c.101G>A
c.48G>A (p.Glu16=)
9g.127653786G>CCA375176333STXBP1c.117G>C (p.Glu39Asp)
c.159G>C (p.Glu53Asp)
c.101G>C
c.48G>C (p.Glu16Asp)
9g.127653786G>TCA375176334STXBP1c.117G>T (p.Glu39Asp)
c.159G>T (p.Glu53Asp)
c.101G>T
c.48G>T (p.Glu16Asp)
9g.127653787G>ACA375176335STXBP1c.118G>A (p.Gly40Ser)
c.160G>A (p.Gly54Ser)
c.102G>A
c.49G>A (p.Gly17Ser)
 dbSNP
9g.127653787G>CCA375176336STXBP1c.118G>C (p.Gly40Arg)
c.160G>C (p.Gly54Arg)
c.102G>C
c.49G>C (p.Gly17Arg)
9g.127653787G=CA1879900585STXBP1c.118G= (p.Gly40=)
c.160G= (p.Gly54=)
c.102G=
c.49G= (p.Gly17=)
9g.127653787G>TCA375176337STXBP1c.118G>T (p.Gly40Cys)
c.160G>T (p.Gly54Cys)
c.102G>T
c.49G>T (p.Gly17Cys)
9g.127653788G>ACA375176338STXBP1c.119G>A (p.Gly40Asp)
c.161G>A (p.Gly54Asp)
c.103G>A
c.50G>A (p.Gly17Asp)
9g.127653788G>CCA375176339STXBP1c.119G>C (p.Gly40Ala)
c.161G>C (p.Gly54Ala)
c.103G>C
c.50G>C (p.Gly17Ala)
9g.127653788G>TCA375176340STXBP1c.119G>T (p.Gly40Val)
c.161G>T (p.Gly54Val)
c.103G>T
c.50G>T (p.Gly17Val)
9g.127653789C>ACA467433849STXBP1c.120C>A (p.Gly40=)
c.162C>A (p.Gly54=)
c.104C>A
c.51C>A (p.Gly17=)
9g.127653789C>GCA467433850STXBP1c.120C>G (p.Gly40=)
c.162C>G (p.Gly54=)
c.104C>G
c.51C>G (p.Gly17=)
9g.127653789C>TCA467433851STXBP1c.120C>T (p.Gly40=)
c.162C>T (p.Gly54=)
c.104C>T
c.51C>T (p.Gly17=)
9g.127653790A>CCA375176341STXBP1c.121A>C (p.Ile41Leu)
c.163A>C (p.Ile55Leu)
c.105A>C
c.52A>C (p.Ile18Leu)
9g.127653790A>GCA375176342STXBP1c.121A>G (p.Ile41Val)
c.163A>G (p.Ile55Val)
c.105A>G
c.52A>G (p.Ile18Val)
9g.127653790A>TCA375176343STXBP1c.121A>T (p.Ile41Leu)
c.163A>T (p.Ile55Leu)
c.105A>T
c.52A>T (p.Ile18Leu)
9g.127653791T>ACA375176346STXBP1c.122T>A (p.Ile41Lys)
c.164T>A (p.Ile55Lys)
c.106T>A
c.53T>A (p.Ile18Lys)
9g.127653791T>CCA375176344STXBP1c.122T>C (p.Ile41Thr)
c.164T>C (p.Ile55Thr)
c.106T>C
c.53T>C (p.Ile18Thr)
 ClinVar dbSNP
9g.127653791T>GCA375176345STXBP1c.122T>G (p.Ile41Arg)
c.164T>G (p.Ile55Arg)
c.106T>G
c.53T>G (p.Ile18Arg)
9g.127653792A>CCA467433853STXBP1c.123A>C (p.Ile41=)
c.165A>C (p.Ile55=)
c.107A>C
c.54A>C (p.Ile18=)
9g.127653792A>GCA375176347STXBP1c.123A>G (p.Ile41Met)
c.165A>G (p.Ile55Met)
c.107A>G
c.54A>G (p.Ile18Met)
9g.127653792A>TCA467433852STXBP1c.123A>T (p.Ile41=)
c.165A>T (p.Ile55=)
c.107A>T
c.54A>T (p.Ile18=)
9g.127653793A>CCA375176348STXBP1c.124A>C (p.Thr42Pro)
c.166A>C (p.Thr56Pro)
c.108A>C
c.55A>C (p.Thr19Pro)
9g.127653793A>GCA375176349STXBP1c.124A>G (p.Thr42Ala)
c.166A>G (p.Thr56Ala)
c.108A>G
c.55A>G (p.Thr19Ala)
9g.127653793A>TCA375176350STXBP1c.124A>T (p.Thr42Ser)
c.166A>T (p.Thr56Ser)
c.108A>T
c.55A>T (p.Thr19Ser)
 COSMIC COSMIC
9g.127653794C>ACA375176351STXBP1c.125C>A (p.Thr42Lys)
c.167C>A (p.Thr56Lys)
c.109C>A
c.56C>A (p.Thr19Lys)
9g.127653794C=CA1879900589STXBP1c.125C= (p.Thr42=)
c.167C= (p.Thr56=)
c.109C=
c.56C= (p.Thr19=)
9g.127653794C>GCA318913STXBP1c.125C>G (p.Thr42Arg)
c.167C>G (p.Thr56Arg)
c.109C>G
c.56C>G (p.Thr19Arg)
 ClinVar dbSNP
9g.127653794C>TCA375176352STXBP1c.125C>T (p.Thr42Met)
c.167C>T (p.Thr56Met)
c.109C>T
c.56C>T (p.Thr19Met)
 gnomAD v4 COSMIC COSMIC
9g.127653795G>ACA467433854STXBP1c.126G>A (p.Thr42=)
c.168G>A (p.Thr56=)
c.110G>A
c.57G>A (p.Thr19=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127653795G>CCA467433855STXBP1c.126G>C (p.Thr42=)
c.168G>C (p.Thr56=)
c.110G>C
c.57G>C (p.Thr19=)
9g.127653795G=CA1879900596STXBP1c.126G= (p.Thr42=)
c.168G= (p.Thr56=)
c.110G=
c.57G= (p.Thr19=)
9g.127653795G>TCA467433856STXBP1c.126G>T (p.Thr42=)
c.168G>T (p.Thr56=)
c.110G>T
c.57G>T (p.Thr19=)
 gnomAD v4
9g.127653796A>CCA375176353STXBP1c.127A>C (p.Ile43Leu)
c.169A>C (p.Ile57Leu)
c.169A>C (p.Arg57=)
c.169A>C (p.Asn57His)
c.111A>C
c.58A>C (p.Ile20Leu)
9g.127653796A>GCA375176354STXBP1c.127A>G (p.Ile43Val)
c.169A>G (p.Ile57Val)
c.169A>G (p.Arg57Gly)
c.169A>G (p.Asn57Asp)
c.111A>G
c.58A>G (p.Ile20Val)
9g.127653796A>TCA375176355STXBP1c.127A>T (p.Ile43Phe)
c.169A>T (p.Ile57Phe)
c.169A>T (p.Arg57Ter)
c.169A>T (p.Asn57Tyr)
c.111A>T
c.58A>T (p.Ile20Phe)
9g.127653797G>ACA118458STXBP1c.127+1G>A (n.127+1G>A)
c.169+1G>A (n.169+1G>A)
c.111+1G>A
c.58+1G>A (n.58+1G>A)
 ClinVar dbSNP
9g.127653797G>CCA375176357STXBP1c.127+1G>C (n.127+1G>C)
c.169+1G>C (n.169+1G>C)
c.111+1G>C
c.58+1G>C (n.58+1G>C)
9g.127653797G=CA1879900600STXBP1c.127+1G= (n.127+1G=)
c.169+1G= (n.169+1G=)
c.111+1G=
c.58+1G= (n.58+1G=)
9g.127653797G>TCA375176356STXBP1c.127+1G>T (n.127+1G>T)
c.169+1G>T (n.169+1G>T)
c.111+1G>T
c.58+1G>T (n.58+1G>T)
9g.127653798T>ACA375176358STXBP1c.127+2T>A (n.127+2T>A)
c.169+2T>A (n.169+2T>A)
c.111+2T>A
c.58+2T>A (n.58+2T>A)
9g.127653798T>CCA375176359STXBP1c.127+2T>C (n.127+2T>C)
c.169+2T>C (n.169+2T>C)
c.111+2T>C
c.58+2T>C (n.58+2T>C)
9g.127653798T>GCA375176360STXBP1c.127+2T>G (n.127+2T>G)
c.169+2T>G (n.169+2T>G)
c.111+2T>G
c.58+2T>G (n.58+2T>G)
9g.127653799G=CA1879900604STXBP1c.127+3G= (n.127+3G=)
c.169+3G= (n.169+3G=)
c.111+3G=
c.58+3G= (n.58+3G=)
9g.127653799G>TCA1879900605STXBP1c.127+3G>T (n.127+3G>T)
c.169+3G>T (n.169+3G>T)
c.111+3G>T
c.58+3G>T (n.58+3G>T)
 dbSNP
9g.127653801G>CCA2697558038STXBP1c.127+5G>C (n.127+5G>C)
c.169+5G>C (n.169+5G>C)
c.111+5G>C
c.58+5G>C (n.58+5G>C)
 ClinVar
9g.127653803_127653806dupCA913142317STXBP1c.127+7_127+10dup (n.127+7_127+10dup)
c.169+7_169+10dup (n.169+7_169+10dup)
c.111+7_111+10dup
c.58+7_58+10dup (n.58+7_58+10dup)
9g.127653802C>TCA2580079570STXBP1c.127+6C>T (n.127+6C>T)
c.169+6C>T (n.169+6C>T)
c.111+6C>T
c.58+6C>T (n.58+6C>T)
 ClinVar gnomAD v4
9g.127653803A=CA1879900607STXBP1c.127+7A= (n.127+7A=)
c.169+7A= (n.169+7A=)
c.111+7A=
c.58+7A= (n.58+7A=)
9g.127653803A>GCA201185140STXBP1c.127+7A>G (n.127+7A>G)
c.169+7A>G (n.169+7A>G)
c.111+7A>G
c.58+7A>G (n.58+7A>G)
 dbSNP gnomAD v4
9g.127653803A>TCA2691771452STXBP1c.127+7A>T (n.127+7A>T)
c.169+7A>T (n.169+7A>T)
c.111+7A>T
c.58+7A>T (n.58+7A>T)
 gnomAD v4
9g.127653804T>CCA2579458466STXBP1c.127+8T>C (n.127+8T>C)
c.169+8T>C (n.169+8T>C)
c.111+8T>C
c.58+8T>C (n.58+8T>C)
 ClinVar gnomAD v4
9g.127653806C>ACA860170507STXBP1c.127+10C>A (n.127+10C>A)
c.169+10C>A (n.169+10C>A)
c.111+10C>A
c.58+10C>A (n.58+10C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127653806C=CA1879900610STXBP1c.127+10C= (n.127+10C=)
c.169+10C= (n.169+10C=)
c.111+10C=
c.58+10C= (n.58+10C=)
9g.127653806C>GCA2691771453STXBP1c.127+10C>G (n.127+10C>G)
c.169+10C>G (n.169+10C>G)
c.111+10C>G
c.58+10C>G (n.58+10C>G)
 gnomAD v4
9g.127653806C>TCA16612691STXBP1c.127+10C>T (n.127+10C>T)
c.169+10C>T (n.169+10C>T)
c.111+10C>T
c.58+10C>T (n.58+10C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched