Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127653772_127653775delCA2580616304STXBP1c.103_106del (p.Asp35SerfsTer2)
c.145_148del (p.Asp49SerfsTer2)
c.87_90del
c.34_37del (p.Asp12SerfsTer2)
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)

Number of alleles fetched