Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.101375140_101375143delCA658684324BTKn.301+3_301+6del
c.141+3_141+6del (n.141+3_141+6del)
c.144_145+2del
n.454+3_454+6del
n.258+3_258+6del
c.243+3_243+6del (n.243+3_243+6del)
 ClinVar dbSNP
Xg.101375142A>CCA413939206BTKn.301+2T>G
c.141+2T>G (n.141+2T>G)
c.143T>G (p.Val48Gly)
n.454+2T>G
n.258+2T>G
c.243+2T>G (n.243+2T>G)
Xg.101375142A>GCA413939207BTKn.301+2T>C
c.141+2T>C (n.141+2T>C)
c.143T>C (p.Val48Ala)
n.454+2T>C
n.258+2T>C
c.243+2T>C (n.243+2T>C)
Xg.101375142A>TCA413939209BTKn.301+2T>A
c.141+2T>A (n.141+2T>A)
c.143T>A (p.Val48Glu)
n.454+2T>A
n.258+2T>A
c.243+2T>A (n.243+2T>A)
Xg.101375143C>ACA413939210BTKn.301+1G>T
c.141+1G>T (n.141+1G>T)
c.142G>T (p.Val48Leu)
n.454+1G>T
n.258+1G>T
c.243+1G>T (n.243+1G>T)
Xg.101375143C>GCA413939212BTKn.301+1G>C
c.141+1G>C (n.141+1G>C)
c.142G>C (p.Val48Leu)
n.454+1G>C
n.258+1G>C
c.243+1G>C (n.243+1G>C)
 ClinVar
Xg.101375143C>TCA413939214BTKn.301+1G>A
c.141+1G>A (n.141+1G>A)
c.142G>A (p.Val48Ile)
n.454+1G>A
n.258+1G>A
c.243+1G>A (n.243+1G>A)
Xg.101375146delCA2695234818BTKn.301+1del
c.141+1del
c.142del (p.Val48Ter)
n.454+1del
n.258+1del
c.243+1del
Xg.101375144C>ACA517535804BTKn.301G>T
c.141G>T (p.Gly47=)
n.454G>T
n.258G>T
c.243G>T (p.Gly81=)
Xg.101375144C=CA2448289875BTKn.301G=
c.141G= (p.Gly47=)
n.454G=
n.258G=
c.243G= (p.Gly81=)
Xg.101375144C>GCA10473232BTKn.301G>C
c.141G>C (p.Gly47=)
n.454G>C
n.258G>C
c.243G>C (p.Gly81=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.101375144C>TCA517535805BTKn.301G>A
c.141G>A (p.Gly47=)
n.454G>A
n.258G>A
c.243G>A (p.Gly81=)
Xg.101375144_101375166delCA2695234819BTKn.279_301del
c.119_141del (p.Tyr40Ter)
c.119_141del (p.Tyr40CysfsTer4)
n.432_454del
n.236_258del
c.221_243del (p.Tyr74Ter)
Xg.101375145C>ACA413939218BTKn.300G>T
c.140G>T (p.Gly47Val)
n.453G>T
n.257G>T
c.242G>T (p.Gly81Val)
 dbSNP
Xg.101375145C>GCA413939220BTKn.300G>C
c.140G>C (p.Gly47Ala)
n.453G>C
n.257G>C
c.242G>C (p.Gly81Ala)
Xg.101375145C>TCA413939217BTKn.300G>A
c.140G>A (p.Gly47Glu)
n.453G>A
n.257G>A
c.242G>A (p.Gly81Glu)
Xg.101375145_101375151delinsCCACGTTCA2448289876BTKn.294_300delinsAACGTGG
c.134_140delinsAACGTGG (p.Glu45=)
n.447_453delinsAACGTGG
n.251_257delinsAACGTGG
c.236_242delinsAACGTGG (p.Glu79=)
Xg.101375146C>ACA413939222BTKn.299G>T
c.139G>T (p.Gly47Trp)
n.452G>T
n.256G>T
c.241G>T (p.Gly81Trp)
Xg.101375146C>GCA413939224BTKn.299G>C
c.139G>C (p.Gly47Arg)
n.452G>C
n.256G>C
c.241G>C (p.Gly81Arg)
Xg.101375146C>TCA413939225BTKn.299G>A
c.139G>A (p.Gly47Arg)
n.452G>A
n.256G>A
c.241G>A (p.Gly81Arg)
Xg.101375146_101375148delinsAACA2695234820BTKn.297_299delinsTT
c.137_139delinsTT (p.Arg46LeufsTer11)
c.137_139delinsTT (p.Arg46LeufsTer?)
c.137_139delinsTT (p.Arg46LeufsTer3)
n.450_452delinsTT
n.254_256delinsTT
c.239_241delinsTT (p.Arg80LeufsTer11)
Xg.101375148_101375153delCA2448289877BTKn.294_299del
c.134_139del (p.Glu45_Arg46del)
n.447_452del
n.251_256del
c.236_241del (p.Glu79_Arg80del)
 ClinVar dbSNP
Xg.101375147A>CCA517535807BTKn.298T>G
c.138T>G (p.Arg46=)
n.451T>G
n.255T>G
c.240T>G (p.Arg80=)
Xg.101375147A>GCA517535808BTKn.298T>C
c.138T>C (p.Arg46=)
n.451T>C
n.255T>C
c.240T>C (p.Arg80=)
Xg.101375147A>TCA517535809BTKn.298T>A
c.138T>A (p.Arg46=)
n.451T>A
n.255T>A
c.240T>A (p.Arg80=)
 gnomAD v4
Xg.101375147dupCA2573159073BTKn.298dup
c.138dup (p.Gly47TrpfsTer6)
c.138dup (p.Gly47TrpfsTer9)
c.138dup (p.Gly47TrpfsTer5)
c.138dup (p.Gly47TrpfsTer10)
n.451dup
n.255dup
c.240dup (p.Gly81TrpfsTer6)
 ClinVar dbSNP
Xg.101375148C>ACA413939227BTKn.297G>T
c.137G>T (p.Arg46Leu)
n.450G>T
n.254G>T
c.239G>T (p.Arg80Leu)
Xg.101375148C=CA2448289878BTKn.297G=
c.137G= (p.Arg46=)
n.450G=
n.254G=
c.239G= (p.Arg80=)
Xg.101375148C>GCA413939229BTKn.297G>C
c.137G>C (p.Arg46Pro)
n.450G>C
n.254G>C
c.239G>C (p.Arg80Pro)
Xg.101375148C>TCA413939231BTKn.297G>A
c.137G>A (p.Arg46His)
n.450G>A
n.254G>A
c.239G>A (p.Arg80His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.101375149G>ACA413939232BTKn.296C>T
c.136C>T (p.Arg46Cys)
n.449C>T
n.253C>T
c.238C>T (p.Arg80Cys)
 dbSNP COSMIC
Xg.101375149G>CCA413939233BTKn.296C>G
c.136C>G (p.Arg46Gly)
n.449C>G
n.253C>G
c.238C>G (p.Arg80Gly)
Xg.101375149G>TCA413939234BTKn.296C>A
c.136C>A (p.Arg46Ser)
n.449C>A
n.253C>A
c.238C>A (p.Arg80Ser)
Xg.101375150T>ACA413939236BTKn.295A>T
c.135A>T (p.Glu45Asp)
n.448A>T
n.252A>T
c.237A>T (p.Glu79Asp)
 dbSNP
Xg.101375150T>CCA517535811BTKn.295A>G
c.135A>G (p.Glu45=)
n.448A>G
n.252A>G
c.237A>G (p.Glu79=)
Xg.101375150T>GCA413939238BTKn.295A>C
c.135A>C (p.Glu45Asp)
n.448A>C
n.252A>C
c.237A>C (p.Glu79Asp)
Xg.101375151T>ACA413939243BTKn.294A>T
c.134A>T (p.Glu45Val)
n.447A>T
n.251A>T
c.236A>T (p.Glu79Val)
Xg.101375151T>CCA413939241BTKn.294A>G
c.134A>G (p.Glu45Gly)
n.447A>G
n.251A>G
c.236A>G (p.Glu79Gly)
Xg.101375151T>GCA413939240BTKn.294A>C
c.134A>C (p.Glu45Ala)
n.447A>C
n.251A>C
c.236A>C (p.Glu79Ala)
Xg.101375152C>ACA413939245BTKn.293G>T
c.133G>T (p.Glu45Ter)
n.446G>T
n.250G>T
c.235G>T (p.Glu79Ter)
Xg.101375152C>GCA413939247BTKn.293G>C
c.133G>C (p.Glu45Gln)
n.446G>C
n.250G>C
c.235G>C (p.Glu79Gln)
Xg.101375152C>TCA413939248BTKn.293G>A
c.133G>A (p.Glu45Lys)
n.446G>A
n.250G>A
c.235G>A (p.Glu79Lys)
Xg.101375153A>CCA413939252BTKn.292T>G
c.132T>G (p.Phe44Leu)
n.445T>G
n.249T>G
c.234T>G (p.Phe78Leu)
Xg.101375153A>GCA517535814BTKn.292T>C
c.132T>C (p.Phe44=)
n.445T>C
n.249T>C
c.234T>C (p.Phe78=)
Xg.101375153A>TCA413939254BTKn.292T>A
c.132T>A (p.Phe44Leu)
n.445T>A
n.249T>A
c.234T>A (p.Phe78Leu)
Xg.101375154A>CCA413939257BTKn.291T>G
c.131T>G (p.Phe44Cys)
n.444T>G
n.248T>G
c.233T>G (p.Phe78Cys)
Xg.101375154A>GCA413939258BTKn.291T>C
c.131T>C (p.Phe44Ser)
n.444T>C
n.248T>C
c.233T>C (p.Phe78Ser)
Xg.101375154A>TCA413939261BTKn.291T>A
c.131T>A (p.Phe44Tyr)
n.444T>A
n.248T>A
c.233T>A (p.Phe78Tyr)
Xg.101375155A>CCA413939264BTKn.290T>G
c.130T>G (p.Phe44Val)
n.443T>G
n.247T>G
c.232T>G (p.Phe78Val)
Xg.101375155A>GCA413939266BTKn.290T>C
c.130T>C (p.Phe44Leu)
n.443T>C
n.247T>C
c.232T>C (p.Phe78Leu)

Number of alleles fetched