Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.133255836_133255849delinsCGGCCTCGATGCCGCA1882579642ABOn.911_924delinsCGGCATCGAGGCCG
n.54-4697_54-4684delinsCGGCATCGAGGCCG
c.28+19313_28+19326delinsCGGCATCGAGGCCG (n.28+19313_28+19326delinsCGGCATCGAGGCCG)
n.893_906delinsCGGCATCGAGGCCG
c.879_892delinsCGGCATCGAGGCCG (p.Asn293=)
c.882_895delinsCGGCATCGAGGCCG (p.Asn294=)
9g.133255837_133255849delCA1882579649ABOn.911_923del
n.54-4697_54-4685del
c.28+19313_28+19325del (n.28+19313_28+19325del)
n.893_905del
c.879_891del (p.Asn293LysfsTer9)
c.882_894del (p.Asn294LysfsTer9)
dbSNP
9g.133255839C>ACA5305694ABOn.921G>T
n.54-4687G>T
c.28+19323G>T (n.28+19323G>T)
n.903G>T
c.889G>T (p.Ala297Ser)
c.892G>T (p.Ala298Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133255839C=CA1882579654ABOn.921G=
n.54-4687G=
c.28+19323G= (n.28+19323G=)
n.903G=
c.889G= (p.Ala297=)
c.892G= (p.Ala298=)
9g.133255839C>GCA375684409ABOn.921G>C
n.54-4687G>C
c.28+19323G>C (n.28+19323G>C)
n.903G>C
c.889G>C (p.Ala297Pro)
c.892G>C (p.Ala298Pro)
9g.133255839C>TCA375684412ABOn.921G>A
n.54-4687G>A
c.28+19323G>A (n.28+19323G>A)
n.903G>A
c.889G>A (p.Ala297Thr)
c.892G>A (p.Ala298Thr)
dbSNP gnomAD v3 gnomAD v4
9g.133255840C>ACA375684417ABOn.920G>T
n.54-4688G>T
c.28+19322G>T (n.28+19322G>T)
n.902G>T
c.888G>T (p.Glu296Asp)
c.891G>T (p.Glu297Asp)
dbSNP gnomAD v3 gnomAD v4
9g.133255840C=CA1882579657ABOn.920G=
n.54-4688G=
c.28+19322G= (n.28+19322G=)
n.902G=
c.888G= (p.Glu296=)
c.891G= (p.Glu297=)
9g.133255840C>GCA375684420ABOn.920G>C
n.54-4688G>C
c.28+19322G>C (n.28+19322G>C)
n.902G>C
c.888G>C (p.Glu296Asp)
c.891G>C (p.Glu297Asp)
9g.133255840C>TCA467852997ABOn.920G>A
n.54-4688G>A
c.28+19322G>A (n.28+19322G>A)
n.902G>A
c.888G>A (p.Glu296=)
c.891G>A (p.Glu297=)
dbSNP gnomAD v3 gnomAD v4
9g.133255841T>ACA375684424ABOn.919A>T
n.54-4689A>T
c.28+19321A>T (n.28+19321A>T)
n.901A>T
c.887A>T (p.Glu296Val)
c.890A>T (p.Glu297Val)
9g.133255841T>CCA375684427ABOn.919A>G
n.54-4689A>G
c.28+19321A>G (n.28+19321A>G)
n.901A>G
c.887A>G (p.Glu296Gly)
c.890A>G (p.Glu297Gly)
9g.133255841T>GCA375684430ABOn.919A>C
n.54-4689A>C
c.28+19321A>C (n.28+19321A>C)
n.901A>C
c.887A>C (p.Glu296Ala)
c.890A>C (p.Glu297Ala)
9g.133255842C>ACA375684438ABOn.918G>T
n.54-4690G>T
c.28+19320G>T (n.28+19320G>T)
n.900G>T
c.886G>T (p.Glu296Ter)
c.889G>T (p.Glu297Ter)
9g.133255842C=CA1882579661ABOn.918G=
n.54-4690G=
c.28+19320G= (n.28+19320G=)
n.900G=
c.886G= (p.Glu296=)
c.889G= (p.Glu297=)
9g.133255842C>GCA375684445ABOn.918G>C
n.54-4690G>C
c.28+19320G>C (n.28+19320G>C)
n.900G>C
c.886G>C (p.Glu296Gln)
c.889G>C (p.Glu297Gln)
dbSNP
9g.133255842C>TCA200765177ABOn.918G>A
n.54-4690G>A
c.28+19320G>A (n.28+19320G>A)
n.900G>A
c.886G>A (p.Glu296Lys)
c.889G>A (p.Glu297Lys)
dbSNP COSMIC
9g.133255843G>ACA5305695ABOn.917C>T
n.54-4691C>T
c.28+19319C>T (n.28+19319C>T)
n.899C>T
c.885C>T (p.Ile295=)
c.888C>T (p.Ile296=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.133255843G>CCA375684449ABOn.917C>G
n.54-4691C>G
c.28+19319C>G (n.28+19319C>G)
n.899C>G
c.885C>G (p.Ile295Met)
c.888C>G (p.Ile296Met)
gnomAD v4
9g.133255843G=CA1882579664ABOn.917C=
n.54-4691C=
c.28+19319C= (n.28+19319C=)
n.899C=
c.885C= (p.Ile295=)
c.888C= (p.Ile296=)
9g.133255843G>TCA467852999ABOn.917C>A
n.54-4691C>A
c.28+19319C>A (n.28+19319C>A)
n.899C>A
c.885C>A (p.Ile295=)
c.888C>A (p.Ile296=)
9g.133255844A>CCA375684457ABOn.916T>G
n.54-4692T>G
c.28+19318T>G (n.28+19318T>G)
n.898T>G
c.884T>G (p.Ile295Ser)
c.887T>G (p.Ile296Ser)
9g.133255844A>GCA375684460ABOn.916T>C
n.54-4692T>C
c.28+19318T>C (n.28+19318T>C)
n.898T>C
c.884T>C (p.Ile295Thr)
c.887T>C (p.Ile296Thr)
9g.133255844A>TCA375684468ABOn.916T>A
n.54-4692T>A
c.28+19318T>A (n.28+19318T>A)
n.898T>A
c.884T>A (p.Ile295Asn)
c.887T>A (p.Ile296Asn)
9g.133255845T>ACA375684471ABOn.915A>T
n.54-4693A>T
c.28+19317A>T (n.28+19317A>T)
n.897A>T
c.883A>T (p.Ile295Phe)
c.886A>T (p.Ile296Phe)
dbSNP
9g.133255845T>CCA375684475ABOn.915A>G
n.54-4693A>G
c.28+19317A>G (n.28+19317A>G)
n.897A>G
c.883A>G (p.Ile295Val)
c.886A>G (p.Ile296Val)
dbSNP gnomAD v3 gnomAD v4
9g.133255845T>GCA375684478ABOn.915A>C
n.54-4693A>C
c.28+19317A>C (n.28+19317A>C)
n.897A>C
c.883A>C (p.Ile295Leu)
c.886A>C (p.Ile296Leu)
9g.133255845T=CA1882579671ABOn.915A=
n.54-4693A=
c.28+19317A= (n.28+19317A=)
n.897A=
c.883A= (p.Ile295=)
c.886A= (p.Ile296=)
9g.133255845_133255852delinsTGCCGTTGCA1882579669ABOn.908_915delinsCAACGGCA
n.54-4700_54-4693delinsCAACGGCA
c.28+19310_28+19317delinsCAACGGCA (n.28+19310_28+19317delinsCAACGGCA)
n.890_897delinsCAACGGCA
c.876_883delinsCAACGGCA (p.Ala292=)
c.879_886delinsCAACGGCA (p.Ala293=)
9g.133255846G>ACA467853001ABOn.914C>T
n.54-4694C>T
c.28+19316C>T (n.28+19316C>T)
n.896C>T
c.882C>T (p.Gly294=)
c.885C>T (p.Gly295=)
9g.133255846G>CCA467853002ABOn.914C>G
n.54-4694C>G
c.28+19316C>G (n.28+19316C>G)
n.896C>G
c.882C>G (p.Gly294=)
c.885C>G (p.Gly295=)
9g.133255846G>TCA467853003ABOn.914C>A
n.54-4694C>A
c.28+19316C>A (n.28+19316C>A)
n.896C>A
c.882C>A (p.Gly294=)
c.885C>A (p.Gly295=)
9g.133255849_133255855delCA591377489ABOn.908_914del
n.54-4700_54-4694del
c.28+19310_28+19316del (n.28+19310_28+19316del)
n.890_896del
c.876_882del (p.Asn293SerfsTer11)
c.879_885del (p.Asn294SerfsTer11)
dbSNP gnomAD v2
9g.133255847C>ACA375684481ABOn.913G>T
n.54-4695G>T
c.28+19315G>T (n.28+19315G>T)
n.895G>T
c.881G>T (p.Gly294Val)
c.884G>T (p.Gly295Val)
9g.133255847C>GCA375684483ABOn.913G>C
n.54-4695G>C
c.28+19315G>C (n.28+19315G>C)
n.895G>C
c.881G>C (p.Gly294Ala)
c.884G>C (p.Gly295Ala)
9g.133255847C>TCA375684487ABOn.913G>A
n.54-4695G>A
c.28+19315G>A (n.28+19315G>A)
n.895G>A
c.881G>A (p.Gly294Asp)
c.884G>A (p.Gly295Asp)
COSMIC
9g.133255848C>ACA375684490ABOn.912G>T
n.54-4696G>T
c.28+19314G>T (n.28+19314G>T)
n.894G>T
c.880G>T (p.Gly294Cys)
c.883G>T (p.Gly295Cys)
9g.133255848C=CA1882579675ABOn.912G=
n.54-4696G=
c.28+19314G= (n.28+19314G=)
n.894G=
c.880G= (p.Gly294=)
c.883G= (p.Gly295=)
9g.133255848C>GCA375684493ABOn.912G>C
n.54-4696G>C
c.28+19314G>C (n.28+19314G>C)
n.894G>C
c.880G>C (p.Gly294Arg)
c.883G>C (p.Gly295Arg)
9g.133255848C>TCA5305696ABOn.912G>A
n.54-4696G>A
c.28+19314G>A (n.28+19314G>A)
n.894G>A
c.880G>A (p.Gly294Ser)
c.883G>A (p.Gly295Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.133255849G>ACA5305697ABOn.911C>T
n.54-4697C>T
c.28+19313C>T (n.28+19313C>T)
n.893C>T
c.879C>T (p.Asn293=)
c.882C>T (p.Asn294=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.133255849G>CCA375684498ABOn.911C>G
n.54-4697C>G
c.28+19313C>G (n.28+19313C>G)
n.893C>G
c.879C>G (p.Asn293Lys)
c.882C>G (p.Asn294Lys)
gnomAD v4
9g.133255849G=CA1882579677ABOn.911C=
n.54-4697C=
c.28+19313C= (n.28+19313C=)
n.893C=
c.879C= (p.Asn293=)
c.882C= (p.Asn294=)
9g.133255849G>TCA375684500ABOn.911C>A
n.54-4697C>A
c.28+19313C>A (n.28+19313C>A)
n.893C>A
c.879C>A (p.Asn293Lys)
c.882C>A (p.Asn294Lys)
9g.133255850T>ACA375684506ABOn.910A>T
n.54-4698A>T
c.28+19312A>T (n.28+19312A>T)
n.892A>T
c.878A>T (p.Asn293Ile)
c.881A>T (p.Asn294Ile)
9g.133255850T>CCA375684507ABOn.910A>G
n.54-4698A>G
c.28+19312A>G (n.28+19312A>G)
n.892A>G
c.878A>G (p.Asn293Ser)
c.881A>G (p.Asn294Ser)
dbSNP gnomAD v4
9g.133255850T>GCA375684508ABOn.910A>C
n.54-4698A>C
c.28+19312A>C (n.28+19312A>C)
n.892A>C
c.878A>C (p.Asn293Thr)
c.881A>C (p.Asn294Thr)
9g.133255850T=CA1882579682ABOn.910A=
n.54-4698A=
c.28+19312A= (n.28+19312A=)
n.892A=
c.878A= (p.Asn293=)
c.881A= (p.Asn294=)
9g.133255850_133255851insCCA467853004ABOn.909_910insG
n.54-4699_54-4698insG
c.28+19311_28+19312insG (n.28+19311_28+19312insG)
n.891_892insG
c.877_878insG (p.Asn293ArgfsTer?)
c.880_881insG (p.Asn294ArgfsTer?)
9g.133255850_133255851insGCA2579497347ABOn.909_910insC
n.54-4699_54-4698insC
c.28+19311_28+19312insC (n.28+19311_28+19312insC)
n.891_892insC
c.877_878insC (p.Asn293ThrfsTer?)
c.880_881insC (p.Asn294ThrfsTer?)

Number of alleles fetched