Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153592587G>ACA337225267CCNQc.576C>T (p.Ala192=)
c.193+1960C>T
c.277+3417C>T
c.397C>T
c.*452C>T (n.*452C>T)
c.*741C>T (n.*741C>T)
c.546C>T (p.Ala182=)
c.450C>T (p.Ala150=)
n.2481C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592587G>CCA519213750CCNQc.576C>G (p.Ala192=)
c.193+1960C>G
c.277+3417C>G
c.397C>G
c.*452C>G (n.*452C>G)
c.*741C>G (n.*741C>G)
c.546C>G (p.Ala182=)
c.450C>G (p.Ala150=)
n.2481C>G
Xg.153592587G=CA2466399744CCNQc.576C= (p.Ala192=)
c.193+1960C=
c.277+3417C=
c.397C=
c.*452C= (n.*452C=)
c.*741C= (n.*741C=)
c.546C= (p.Ala182=)
c.450C= (p.Ala150=)
n.2481C=
Xg.153592587G>TCA519213753CCNQc.576C>A (p.Ala192=)
c.193+1960C>A
c.277+3417C>A
c.397C>A
c.*452C>A (n.*452C>A)
c.*741C>A (n.*741C>A)
c.546C>A (p.Ala182=)
c.450C>A (p.Ala150=)
n.2481C>A
Xg.153592588G>ACA415087679CCNQc.575C>T (p.Ala192Val)
c.193+1959C>T
c.277+3416C>T
c.396C>T
c.*451C>T (n.*451C>T)
c.*740C>T (n.*740C>T)
c.545C>T (p.Ala182Val)
c.449C>T (p.Ala150Val)
n.2480C>T
Xg.153592588G>CCA415087676CCNQc.575C>G (p.Ala192Gly)
c.193+1959C>G
c.277+3416C>G
c.396C>G
c.*451C>G (n.*451C>G)
c.*740C>G (n.*740C>G)
c.545C>G (p.Ala182Gly)
c.449C>G (p.Ala150Gly)
n.2480C>G
Xg.153592588G>TCA415087675CCNQc.575C>A (p.Ala192Asp)
c.193+1959C>A
c.277+3416C>A
c.396C>A
c.*451C>A (n.*451C>A)
c.*740C>A (n.*740C>A)
c.545C>A (p.Ala182Asp)
c.449C>A (p.Ala150Asp)
n.2480C>A
Xg.153592589C>ACA415087683CCNQc.574G>T (p.Ala192Ser)
c.193+1958G>T
c.277+3415G>T
c.395G>T
c.*450G>T (n.*450G>T)
c.*739G>T (n.*739G>T)
c.544G>T (p.Ala182Ser)
c.448G>T (p.Ala150Ser)
n.2479G>T
 dbSNP
Xg.153592589C=CA2466399745CCNQc.574G= (p.Ala192=)
c.193+1958G=
c.277+3415G=
c.395G=
c.*450G= (n.*450G=)
c.*739G= (n.*739G=)
c.544G= (p.Ala182=)
c.448G= (p.Ala150=)
n.2479G=
Xg.153592589C>GCA415087686CCNQc.574G>C (p.Ala192Pro)
c.193+1958G>C
c.277+3415G>C
c.395G>C
c.*450G>C (n.*450G>C)
c.*739G>C (n.*739G>C)
c.544G>C (p.Ala182Pro)
c.448G>C (p.Ala150Pro)
n.2479G>C
Xg.153592589C>TCA415087689CCNQc.574G>A (p.Ala192Thr)
c.193+1958G>A
c.277+3415G>A
c.395G>A
c.*450G>A (n.*450G>A)
c.*739G>A (n.*739G>A)
c.544G>A (p.Ala182Thr)
c.448G>A (p.Ala150Thr)
n.2479G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.153592589_153592590delinsCGCA2466399746CCNQc.573_574delinsCG (p.Ile191=)
c.193+1957_193+1958delinsCG
c.277+3414_277+3415delinsCG
c.394_395delinsCG
c.*449_*450delinsCG (n.*449_*450delinsCG)
c.*738_*739delinsCG (n.*738_*739delinsCG)
c.543_544delinsCG (p.Ile181=)
c.447_448delinsCG (p.Ile149=)
n.2478_2479delinsCG
Xg.153592590delCA920449877CCNQc.573del (p.Ile191MetfsTer?)
c.193+1957del
c.277+3414del
c.394del
c.*449del (n.*449del)
c.*738del (n.*738del)
c.543del (p.Ile181MetfsTer?)
c.447del (p.Ile149MetfsTer?)
n.2478del
 dbSNP
Xg.153592590G>ACA10548385CCNQc.573C>T (p.Ile191=)
c.193+1957C>T
c.277+3414C>T
c.394C>T
c.*449C>T (n.*449C>T)
c.*738C>T (n.*738C>T)
c.543C>T (p.Ile181=)
c.447C>T (p.Ile149=)
n.2478C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592590G>CCA415087693CCNQc.573C>G (p.Ile191Met)
c.193+1957C>G
c.277+3414C>G
c.394C>G
c.*449C>G (n.*449C>G)
c.*738C>G (n.*738C>G)
c.543C>G (p.Ile181Met)
c.447C>G (p.Ile149Met)
n.2478C>G
Xg.153592590G=CA2466399747CCNQc.573C= (p.Ile191=)
c.193+1957C=
c.277+3414C=
c.394C=
c.*449C= (n.*449C=)
c.*738C= (n.*738C=)
c.543C= (p.Ile181=)
c.447C= (p.Ile149=)
n.2478C=
Xg.153592590G>TCA519213783CCNQc.573C>A (p.Ile191=)
c.193+1957C>A
c.277+3414C>A
c.394C>A
c.*449C>A (n.*449C>A)
c.*738C>A (n.*738C>A)
c.543C>A (p.Ile181=)
c.447C>A (p.Ile149=)
n.2478C>A
Xg.153592591A>CCA415087696CCNQc.572T>G (p.Ile191Ser)
c.193+1956T>G
c.277+3413T>G
c.393T>G
c.*448T>G (n.*448T>G)
c.*737T>G (n.*737T>G)
c.542T>G (p.Ile181Ser)
c.446T>G (p.Ile149Ser)
n.2477T>G
Xg.153592591A>GCA415087698CCNQc.572T>C (p.Ile191Thr)
c.193+1956T>C
c.277+3413T>C
c.393T>C
c.*448T>C (n.*448T>C)
c.*737T>C (n.*737T>C)
c.542T>C (p.Ile181Thr)
c.446T>C (p.Ile149Thr)
n.2477T>C
Xg.153592591A>TCA415087700CCNQc.572T>A (p.Ile191Asn)
c.193+1956T>A
c.277+3413T>A
c.393T>A
c.*448T>A (n.*448T>A)
c.*737T>A (n.*737T>A)
c.542T>A (p.Ile181Asn)
c.446T>A (p.Ile149Asn)
n.2477T>A
Xg.153592592T>ACA415087706CCNQc.571A>T (p.Ile191Phe)
c.193+1955A>T
c.277+3412A>T
c.392A>T
c.*447A>T (n.*447A>T)
c.*736A>T (n.*736A>T)
c.541A>T (p.Ile181Phe)
c.445A>T (p.Ile149Phe)
n.2476A>T
Xg.153592592T>CCA415087707CCNQc.571A>G (p.Ile191Val)
c.193+1955A>G
c.277+3412A>G
c.392A>G
c.*447A>G (n.*447A>G)
c.*736A>G (n.*736A>G)
c.541A>G (p.Ile181Val)
c.445A>G (p.Ile149Val)
n.2476A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592592T>GCA415087710CCNQc.571A>C (p.Ile191Leu)
c.193+1955A>C
c.277+3412A>C
c.392A>C
c.*447A>C (n.*447A>C)
c.*736A>C (n.*736A>C)
c.541A>C (p.Ile181Leu)
c.445A>C (p.Ile149Leu)
n.2476A>C
Xg.153592592T=CA2466399748CCNQc.571A= (p.Ile191=)
c.193+1955A=
c.277+3412A=
c.392A=
c.*447A= (n.*447A=)
c.*736A= (n.*736A=)
c.541A= (p.Ile181=)
c.445A= (p.Ile149=)
n.2476A=
Xg.153592593G>ACA519213795CCNQc.570C>T (p.His190=)
c.193+1954C>T
c.277+3411C>T
c.391C>T
c.*446C>T (n.*446C>T)
c.*735C>T (n.*735C>T)
c.540C>T (p.His180=)
c.444C>T (p.His148=)
n.2475C>T
 dbSNP
Xg.153592593G>CCA415087714CCNQc.570C>G (p.His190Gln)
c.193+1954C>G
c.277+3411C>G
c.391C>G
c.*446C>G (n.*446C>G)
c.*735C>G (n.*735C>G)
c.540C>G (p.His180Gln)
c.444C>G (p.His148Gln)
n.2475C>G
Xg.153592593G=CA2466399749CCNQc.570C= (p.His190=)
c.193+1954C=
c.277+3411C=
c.391C=
c.*446C= (n.*446C=)
c.*735C= (n.*735C=)
c.540C= (p.His180=)
c.444C= (p.His148=)
n.2475C=
Xg.153592593G>TCA415087716CCNQc.570C>A (p.His190Gln)
c.193+1954C>A
c.277+3411C>A
c.391C>A
c.*446C>A (n.*446C>A)
c.*735C>A (n.*735C>A)
c.540C>A (p.His180Gln)
c.444C>A (p.His148Gln)
n.2475C>A
Xg.153592594T>ACA415087723CCNQc.569A>T (p.His190Leu)
c.193+1953A>T
c.277+3410A>T
c.390A>T
c.*445A>T (n.*445A>T)
c.*734A>T (n.*734A>T)
c.539A>T (p.His180Leu)
c.443A>T (p.His148Leu)
n.2474A>T
Xg.153592594T>CCA415087726CCNQc.569A>G (p.His190Arg)
c.193+1953A>G
c.277+3410A>G
c.390A>G
c.*445A>G (n.*445A>G)
c.*734A>G (n.*734A>G)
c.539A>G (p.His180Arg)
c.443A>G (p.His148Arg)
n.2474A>G
Xg.153592594T>GCA415087721CCNQc.569A>C (p.His190Pro)
c.193+1953A>C
c.277+3410A>C
c.390A>C
c.*445A>C (n.*445A>C)
c.*734A>C (n.*734A>C)
c.539A>C (p.His180Pro)
c.443A>C (p.His148Pro)
n.2474A>C
Xg.153592595G>ACA415087737CCNQc.568C>T (p.His190Tyr)
c.193+1952C>T
c.277+3409C>T
c.389C>T
c.*444C>T (n.*444C>T)
c.*733C>T (n.*733C>T)
c.538C>T (p.His180Tyr)
c.442C>T (p.His148Tyr)
n.2473C>T
Xg.153592595G>CCA415087740CCNQc.568C>G (p.His190Asp)
c.193+1952C>G
c.277+3409C>G
c.389C>G
c.*444C>G (n.*444C>G)
c.*733C>G (n.*733C>G)
c.538C>G (p.His180Asp)
c.442C>G (p.His148Asp)
n.2473C>G
Xg.153592595G>TCA415087741CCNQc.568C>A (p.His190Asn)
c.193+1952C>A
c.277+3409C>A
c.389C>A
c.*444C>A (n.*444C>A)
c.*733C>A (n.*733C>A)
c.538C>A (p.His180Asn)
c.442C>A (p.His148Asn)
n.2473C>A
Xg.153592596C>ACA415087745CCNQc.567G>T (p.Gln189His)
c.193+1951G>T
c.277+3408G>T
c.388G>T
c.*443G>T (n.*443G>T)
c.*732G>T (n.*732G>T)
c.537G>T (p.Gln179His)
c.441G>T (p.Gln147His)
n.2472G>T
Xg.153592596C>GCA415087748CCNQc.567G>C (p.Gln189His)
c.193+1951G>C
c.277+3408G>C
c.388G>C
c.*443G>C (n.*443G>C)
c.*732G>C (n.*732G>C)
c.537G>C (p.Gln179His)
c.441G>C (p.Gln147His)
n.2472G>C
Xg.153592596C>TCA519213825CCNQc.567G>A (p.Gln189=)
c.193+1951G>A
c.277+3408G>A
c.388G>A
c.*443G>A (n.*443G>A)
c.*732G>A (n.*732G>A)
c.537G>A (p.Gln179=)
c.441G>A (p.Gln147=)
n.2472G>A
Xg.153592597T>ACA415087752CCNQc.566A>T (p.Gln189Leu)
c.193+1950A>T
c.277+3407A>T
c.387A>T
c.*442A>T (n.*442A>T)
c.*731A>T (n.*731A>T)
c.536A>T (p.Gln179Leu)
c.440A>T (p.Gln147Leu)
n.2471A>T
Xg.153592597T>CCA415087754CCNQc.566A>G (p.Gln189Arg)
c.193+1950A>G
c.277+3407A>G
c.387A>G
c.*442A>G (n.*442A>G)
c.*731A>G (n.*731A>G)
c.536A>G (p.Gln179Arg)
c.440A>G (p.Gln147Arg)
n.2471A>G
 gnomAD v4
Xg.153592597T>GCA415087762CCNQc.566A>C (p.Gln189Pro)
c.193+1950A>C
c.277+3407A>C
c.387A>C
c.*442A>C (n.*442A>C)
c.*731A>C (n.*731A>C)
c.536A>C (p.Gln179Pro)
c.440A>C (p.Gln147Pro)
n.2471A>C
Xg.153592598G>ACA415087765CCNQc.565C>T (p.Gln189Ter)
c.193+1949C>T
c.277+3406C>T
c.386C>T
c.*441C>T (n.*441C>T)
c.*730C>T (n.*730C>T)
c.535C>T (p.Gln179Ter)
c.439C>T (p.Gln147Ter)
n.2470C>T
Xg.153592598G>CCA415087776CCNQc.565C>G (p.Gln189Glu)
c.193+1949C>G
c.277+3406C>G
c.386C>G
c.*441C>G (n.*441C>G)
c.*730C>G (n.*730C>G)
c.535C>G (p.Gln179Glu)
c.439C>G (p.Gln147Glu)
n.2470C>G
Xg.153592598G>TCA415087778CCNQc.565C>A (p.Gln189Lys)
c.193+1949C>A
c.277+3406C>A
c.386C>A
c.*441C>A (n.*441C>A)
c.*730C>A (n.*730C>A)
c.535C>A (p.Gln179Lys)
c.439C>A (p.Gln147Lys)
n.2470C>A
Xg.153592599G>ACA519213841CCNQc.564C>T (p.Ala188=)
c.193+1948C>T
c.277+3405C>T
c.385C>T
c.*440C>T (n.*440C>T)
c.*729C>T (n.*729C>T)
c.534C>T (p.Ala178=)
c.438C>T (p.Ala146=)
n.2469C>T
Xg.153592599G>CCA519213843CCNQc.564C>G (p.Ala188=)
c.193+1948C>G
c.277+3405C>G
c.385C>G
c.*440C>G (n.*440C>G)
c.*729C>G (n.*729C>G)
c.534C>G (p.Ala178=)
c.438C>G (p.Ala146=)
n.2469C>G
Xg.153592599G>TCA519213845CCNQc.564C>A (p.Ala188=)
c.193+1948C>A
c.277+3405C>A
c.385C>A
c.*440C>A (n.*440C>A)
c.*729C>A (n.*729C>A)
c.534C>A (p.Ala178=)
c.438C>A (p.Ala146=)
n.2469C>A
Xg.153592600G>ACA415087786CCNQc.563C>T (p.Ala188Val)
c.193+1947C>T
c.277+3404C>T
c.384C>T
c.*439C>T (n.*439C>T)
c.*728C>T (n.*728C>T)
c.533C>T (p.Ala178Val)
c.437C>T (p.Ala146Val)
n.2468C>T
Xg.153592600G>CCA415087781CCNQc.563C>G (p.Ala188Gly)
c.193+1947C>G
c.277+3404C>G
c.384C>G
c.*439C>G (n.*439C>G)
c.*728C>G (n.*728C>G)
c.533C>G (p.Ala178Gly)
c.437C>G (p.Ala146Gly)
n.2468C>G
Xg.153592600G>TCA415087784CCNQc.563C>A (p.Ala188Asp)
c.193+1947C>A
c.277+3404C>A
c.384C>A
c.*439C>A (n.*439C>A)
c.*728C>A (n.*728C>A)
c.533C>A (p.Ala178Asp)
c.437C>A (p.Ala146Asp)
n.2468C>A
Xg.153592601C>ACA415087788CCNQc.562G>T (p.Ala188Ser)
c.193+1946G>T
c.277+3403G>T
c.383G>T
c.*438G>T (n.*438G>T)
c.*727G>T (n.*727G>T)
c.532G>T (p.Ala178Ser)
c.436G>T (p.Ala146Ser)
n.2467G>T
Xg.153592601C>GCA415087790CCNQc.562G>C (p.Ala188Pro)
c.193+1946G>C
c.277+3403G>C
c.383G>C
c.*438G>C (n.*438G>C)
c.*727G>C (n.*727G>C)
c.532G>C (p.Ala178Pro)
c.436G>C (p.Ala146Pro)
n.2467G>C
 COSMIC
Xg.153592601C>TCA415087792CCNQc.562G>A (p.Ala188Thr)
c.193+1946G>A
c.277+3403G>A
c.383G>A
c.*438G>A (n.*438G>A)
c.*727G>A (n.*727G>A)
c.532G>A (p.Ala178Thr)
c.436G>A (p.Ala146Thr)
n.2467G>A
Xg.153592602C>ACA415087796CCNQc.561G>T (p.Gln187His)
c.193+1945G>T
c.277+3402G>T
c.382G>T
c.*437G>T (n.*437G>T)
c.*726G>T (n.*726G>T)
c.531G>T (p.Gln177His)
c.435G>T (p.Gln145His)
n.2466G>T
Xg.153592602C>GCA415087798CCNQc.561G>C (p.Gln187His)
c.193+1945G>C
c.277+3402G>C
c.382G>C
c.*437G>C (n.*437G>C)
c.*726G>C (n.*726G>C)
c.531G>C (p.Gln177His)
c.435G>C (p.Gln145His)
n.2466G>C
Xg.153592602C>TCA519213861CCNQc.561G>A (p.Gln187=)
c.193+1945G>A
c.277+3402G>A
c.382G>A
c.*437G>A (n.*437G>A)
c.*726G>A (n.*726G>A)
c.531G>A (p.Gln177=)
c.435G>A (p.Gln145=)
n.2466G>A
Xg.153592603T>ACA415087801CCNQc.560A>T (p.Gln187Leu)
c.193+1944A>T
c.277+3401A>T
c.381A>T
c.*436A>T (n.*436A>T)
c.*725A>T (n.*725A>T)
c.530A>T (p.Gln177Leu)
c.434A>T (p.Gln145Leu)
n.2465A>T
Xg.153592603T>CCA415087802CCNQc.560A>G (p.Gln187Arg)
c.193+1944A>G
c.277+3401A>G
c.381A>G
c.*436A>G (n.*436A>G)
c.*725A>G (n.*725A>G)
c.530A>G (p.Gln177Arg)
c.434A>G (p.Gln145Arg)
n.2465A>G
Xg.153592603T>GCA415087805CCNQc.560A>C (p.Gln187Pro)
c.193+1944A>C
c.277+3401A>C
c.381A>C
c.*436A>C (n.*436A>C)
c.*725A>C (n.*725A>C)
c.530A>C (p.Gln177Pro)
c.434A>C (p.Gln145Pro)
n.2465A>C
Xg.153592604G>ACA415087809CCNQc.559C>T (p.Gln187Ter)
c.193+1943C>T
c.277+3400C>T
c.380C>T
c.*435C>T (n.*435C>T)
c.*724C>T (n.*724C>T)
c.529C>T (p.Gln177Ter)
c.433C>T (p.Gln145Ter)
n.2464C>T
 COSMIC
Xg.153592604G>CCA415087811CCNQc.559C>G (p.Gln187Glu)
c.193+1943C>G
c.277+3400C>G
c.380C>G
c.*435C>G (n.*435C>G)
c.*724C>G (n.*724C>G)
c.529C>G (p.Gln177Glu)
c.433C>G (p.Gln145Glu)
n.2464C>G
Xg.153592604G=CA2466399750CCNQc.559C= (p.Gln187=)
c.193+1943C=
c.277+3400C=
c.380C=
c.*435C= (n.*435C=)
c.*724C= (n.*724C=)
c.529C= (p.Gln177=)
c.433C= (p.Gln145=)
n.2464C=
Xg.153592604G>TCA415087812CCNQc.559C>A (p.Gln187Lys)
c.193+1943C>A
c.277+3400C>A
c.380C>A
c.*435C>A (n.*435C>A)
c.*724C>A (n.*724C>A)
c.529C>A (p.Gln177Lys)
c.433C>A (p.Gln145Lys)
n.2464C>A
 dbSNP
Xg.153592605G>ACA10548386CCNQc.558C>T (p.Phe186=)
c.193+1942C>T
c.277+3399C>T
c.379C>T
c.*434C>T (n.*434C>T)
c.*723C>T (n.*723C>T)
c.528C>T (p.Phe176=)
c.432C>T (p.Phe144=)
n.2463C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592605G>CCA415087819CCNQc.558C>G (p.Phe186Leu)
c.193+1942C>G
c.277+3399C>G
c.379C>G
c.*434C>G (n.*434C>G)
c.*723C>G (n.*723C>G)
c.528C>G (p.Phe176Leu)
c.432C>G (p.Phe144Leu)
n.2463C>G
Xg.153592605G=CA2466399751CCNQc.558C= (p.Phe186=)
c.193+1942C=
c.277+3399C=
c.379C=
c.*434C= (n.*434C=)
c.*723C= (n.*723C=)
c.528C= (p.Phe176=)
c.432C= (p.Phe144=)
n.2463C=
Xg.153592605G>TCA415087816CCNQc.558C>A (p.Phe186Leu)
c.193+1942C>A
c.277+3399C>A
c.379C>A
c.*434C>A (n.*434C>A)
c.*723C>A (n.*723C>A)
c.528C>A (p.Phe176Leu)
c.432C>A (p.Phe144Leu)
n.2463C>A
Xg.153592606A=CA2466399752CCNQc.557T= (p.Phe186=)
c.193+1941T=
c.277+3398T=
c.378T=
c.*433T= (n.*433T=)
c.*722T= (n.*722T=)
c.527T= (p.Phe176=)
c.431T= (p.Phe144=)
n.2462T=
Xg.153592606A>CCA415087824CCNQc.557T>G (p.Phe186Cys)
c.193+1941T>G
c.277+3398T>G
c.378T>G
c.*433T>G (n.*433T>G)
c.*722T>G (n.*722T>G)
c.527T>G (p.Phe176Cys)
c.431T>G (p.Phe144Cys)
n.2462T>G
Xg.153592606A>GCA415087821CCNQc.557T>C (p.Phe186Ser)
c.193+1941T>C
c.277+3398T>C
c.378T>C
c.*433T>C (n.*433T>C)
c.*722T>C (n.*722T>C)
c.527T>C (p.Phe176Ser)
c.431T>C (p.Phe144Ser)
n.2462T>C
Xg.153592606A>TCA415087826CCNQc.557T>A (p.Phe186Tyr)
c.193+1941T>A
c.277+3398T>A
c.378T>A
c.*433T>A (n.*433T>A)
c.*722T>A (n.*722T>A)
c.527T>A (p.Phe176Tyr)
c.431T>A (p.Phe144Tyr)
n.2462T>A
 dbSNP gnomAD v2 gnomAD v4
Xg.153592607A>CCA415087829CCNQc.556T>G (p.Phe186Val)
c.193+1940T>G
c.277+3397T>G
c.377T>G
c.*432T>G (n.*432T>G)
c.*721T>G (n.*721T>G)
c.526T>G (p.Phe176Val)
c.430T>G (p.Phe144Val)
n.2461T>G
Xg.153592607A>GCA415087832CCNQc.556T>C (p.Phe186Leu)
c.193+1940T>C
c.277+3397T>C
c.377T>C
c.*432T>C (n.*432T>C)
c.*721T>C (n.*721T>C)
c.526T>C (p.Phe176Leu)
c.430T>C (p.Phe144Leu)
n.2461T>C
Xg.153592607A>TCA415087835CCNQc.556T>A (p.Phe186Ile)
c.193+1940T>A
c.277+3397T>A
c.377T>A
c.*432T>A (n.*432T>A)
c.*721T>A (n.*721T>A)
c.526T>A (p.Phe176Ile)
c.430T>A (p.Phe144Ile)
n.2461T>A
Xg.153592608G>ACA519213898CCNQc.555C>T (p.Arg185=)
c.193+1939C>T
c.277+3396C>T
c.376C>T
c.*431C>T (n.*431C>T)
c.*720C>T (n.*720C>T)
c.525C>T (p.Arg175=)
c.429C>T (p.Arg143=)
n.2460C>T
Xg.153592608G>CCA519213900CCNQc.555C>G (p.Arg185=)
c.193+1939C>G
c.277+3396C>G
c.376C>G
c.*431C>G (n.*431C>G)
c.*720C>G (n.*720C>G)
c.525C>G (p.Arg175=)
c.429C>G (p.Arg143=)
n.2460C>G
Xg.153592608G>TCA519213904CCNQc.555C>A (p.Arg185=)
c.193+1939C>A
c.277+3396C>A
c.376C>A
c.*431C>A (n.*431C>A)
c.*720C>A (n.*720C>A)
c.525C>A (p.Arg175=)
c.429C>A (p.Arg143=)
n.2460C>A
Xg.153592609C>ACA415087838CCNQc.554G>T (p.Arg185Leu)
c.193+1938G>T
c.277+3395G>T
c.375G>T
c.*430G>T (n.*430G>T)
c.*719G>T (n.*719G>T)
c.524G>T (p.Arg175Leu)
c.428G>T (p.Arg143Leu)
n.2459G>T
Xg.153592609C=CA2466399753CCNQc.554G= (p.Arg185=)
c.193+1938G=
c.277+3395G=
c.375G=
c.*430G= (n.*430G=)
c.*719G= (n.*719G=)
c.524G= (p.Arg175=)
c.428G= (p.Arg143=)
n.2459G=
Xg.153592609C>GCA415087840CCNQc.554G>C (p.Arg185Pro)
c.193+1938G>C
c.277+3395G>C
c.375G>C
c.*430G>C (n.*430G>C)
c.*719G>C (n.*719G>C)
c.524G>C (p.Arg175Pro)
c.428G>C (p.Arg143Pro)
n.2459G>C
Xg.153592609C>TCA415087843CCNQc.554G>A (p.Arg185His)
c.193+1938G>A
c.277+3395G>A
c.375G>A
c.*430G>A (n.*430G>A)
c.*719G>A (n.*719G>A)
c.524G>A (p.Arg175His)
c.428G>A (p.Arg143His)
n.2459G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.153592610G>ACA415087847CCNQc.553C>T (p.Arg185Cys)
c.193+1937C>T
c.277+3394C>T
c.374C>T
c.*429C>T (n.*429C>T)
c.*718C>T (n.*718C>T)
c.523C>T (p.Arg175Cys)
c.427C>T (p.Arg143Cys)
n.2458C>T
 gnomAD v4
Xg.153592610G>CCA415087849CCNQc.553C>G (p.Arg185Gly)
c.193+1937C>G
c.277+3394C>G
c.374C>G
c.*429C>G (n.*429C>G)
c.*718C>G (n.*718C>G)
c.523C>G (p.Arg175Gly)
c.427C>G (p.Arg143Gly)
n.2458C>G
Xg.153592610G=CA2466399754CCNQc.553C= (p.Arg185=)
c.193+1937C=
c.277+3394C=
c.374C=
c.*429C= (n.*429C=)
c.*718C= (n.*718C=)
c.523C= (p.Arg175=)
c.427C= (p.Arg143=)
n.2458C=
Xg.153592610G>TCA337225271CCNQc.553C>A (p.Arg185Ser)
c.193+1937C>A
c.277+3394C>A
c.374C>A
c.*429C>A (n.*429C>A)
c.*718C>A (n.*718C>A)
c.523C>A (p.Arg175Ser)
c.427C>A (p.Arg143Ser)
n.2458C>A
 dbSNP gnomAD v3 gnomAD v4
Xg.153592611G>ACA519213913CCNQc.552C>T (p.Leu184=)
c.193+1936C>T
c.277+3393C>T
c.373C>T
c.*428C>T (n.*428C>T)
c.*717C>T (n.*717C>T)
c.522C>T (p.Leu174=)
c.426C>T (p.Leu142=)
n.2457C>T
Xg.153592611G>CCA519213915CCNQc.552C>G (p.Leu184=)
c.193+1936C>G
c.277+3393C>G
c.373C>G
c.*428C>G (n.*428C>G)
c.*717C>G (n.*717C>G)
c.522C>G (p.Leu174=)
c.426C>G (p.Leu142=)
n.2457C>G
Xg.153592611G>TCA519213918CCNQc.552C>A (p.Leu184=)
c.193+1936C>A
c.277+3393C>A
c.373C>A
c.*428C>A (n.*428C>A)
c.*717C>A (n.*717C>A)
c.522C>A (p.Leu174=)
c.426C>A (p.Leu142=)
n.2457C>A
Xg.153592612A>CCA415087853CCNQc.551T>G (p.Leu184Arg)
c.193+1935T>G
c.425T>G
c.277+3392T>G
c.372T>G
c.*427T>G (n.*427T>G)
c.*716T>G (n.*716T>G)
c.521T>G (p.Leu174Arg)
c.425T>G (p.Leu142Arg)
n.2456T>G
 gnomAD v4
Xg.153592612A>GCA415087855CCNQc.551T>C (p.Leu184Pro)
c.193+1935T>C
c.425T>C
c.277+3392T>C
c.372T>C
c.*427T>C (n.*427T>C)
c.*716T>C (n.*716T>C)
c.521T>C (p.Leu174Pro)
c.425T>C (p.Leu142Pro)
n.2456T>C
Xg.153592612A>TCA415087858CCNQc.551T>A (p.Leu184His)
c.193+1935T>A
c.425T>A
c.277+3392T>A
c.372T>A
c.*427T>A (n.*427T>A)
c.*716T>A (n.*716T>A)
c.521T>A (p.Leu174His)
c.425T>A (p.Leu142His)
n.2456T>A
Xg.153592613G>ACA415087867CCNQc.550C>T (p.Leu184Phe)
c.193+1934C>T
c.424C>T
c.277+3391C>T
c.371C>T
c.*426C>T (n.*426C>T)
c.*715C>T (n.*715C>T)
c.520C>T (p.Leu174Phe)
c.424C>T (p.Leu142Phe)
n.2455C>T
Xg.153592613G>CCA415087862CCNQc.550C>G (p.Leu184Val)
c.193+1934C>G
c.424C>G
c.277+3391C>G
c.371C>G
c.*426C>G (n.*426C>G)
c.*715C>G (n.*715C>G)
c.520C>G (p.Leu174Val)
c.424C>G (p.Leu142Val)
n.2455C>G
 gnomAD v4
Xg.153592613G>TCA415087865CCNQc.550C>A (p.Leu184Ile)
c.193+1934C>A
c.424C>A
c.277+3391C>A
c.371C>A
c.*426C>A (n.*426C>A)
c.*715C>A (n.*715C>A)
c.520C>A (p.Leu174Ile)
c.424C>A (p.Leu142Ile)
n.2455C>A
Xg.153592614G>ACA519213933CCNQc.549C>T (p.Cys183=)
c.193+1933C>T
c.423C>T (p.Cys141=)
c.277+3390C>T
c.370C>T
c.*425C>T (n.*425C>T)
c.*714C>T (n.*714C>T)
c.519C>T (p.Cys173=)
n.2454C>T
Xg.153592614G>CCA415087871CCNQc.549C>G (p.Cys183Trp)
c.193+1933C>G
c.423C>G (p.Cys141Trp)
c.277+3390C>G
c.370C>G
c.*425C>G (n.*425C>G)
c.*714C>G (n.*714C>G)
c.519C>G (p.Cys173Trp)
n.2454C>G
Xg.153592614G=CA2466399755CCNQc.549C= (p.Cys183=)
c.193+1933C=
c.423C= (p.Cys141=)
c.277+3390C=
c.370C=
c.*425C= (n.*425C=)
c.*714C= (n.*714C=)
c.519C= (p.Cys173=)
n.2454C=
Xg.153592614G>TCA415087872CCNQc.549C>A (p.Cys183Ter)
c.193+1933C>A
c.423C>A (p.Cys141Ter)
c.277+3390C>A
c.370C>A
c.*425C>A (n.*425C>A)
c.*714C>A (n.*714C>A)
c.519C>A (p.Cys173Ter)
n.2454C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.153592615C>ACA415087874CCNQc.548G>T (p.Cys183Phe)
c.193+1932G>T
c.422G>T (p.Cys141Phe)
c.277+3389G>T
c.369G>T
c.*424G>T (n.*424G>T)
c.*713G>T (n.*713G>T)
c.518G>T (p.Cys173Phe)
n.2453G>T
 gnomAD v4
Xg.153592615C=CA2466399756CCNQc.548G= (p.Cys183=)
c.193+1932G=
c.422G= (p.Cys141=)
c.277+3389G=
c.369G=
c.*424G= (n.*424G=)
c.*713G= (n.*713G=)
c.518G= (p.Cys173=)
n.2453G=
Xg.153592615C>GCA337225278CCNQc.548G>C (p.Cys183Ser)
c.193+1932G>C
c.422G>C (p.Cys141Ser)
c.277+3389G>C
c.369G>C
c.*424G>C (n.*424G>C)
c.*713G>C (n.*713G>C)
c.518G>C (p.Cys173Ser)
n.2453G>C
 dbSNP
Xg.153592615C>TCA415087876CCNQc.548G>A (p.Cys183Tyr)
c.193+1932G>A
c.422G>A (p.Cys141Tyr)
c.277+3389G>A
c.369G>A
c.*424G>A (n.*424G>A)
c.*713G>A (n.*713G>A)
c.518G>A (p.Cys173Tyr)
n.2453G>A
Xg.153592616A>CCA415087879CCNQc.547T>G (p.Cys183Gly)
c.193+1931T>G
c.421T>G (p.Cys141Gly)
c.277+3388T>G
c.368T>G
c.*423T>G (n.*423T>G)
c.*712T>G (n.*712T>G)
c.517T>G (p.Cys173Gly)
n.2452T>G
Xg.153592616A>GCA415087881CCNQc.547T>C (p.Cys183Arg)
c.193+1931T>C
c.421T>C (p.Cys141Arg)
c.277+3388T>C
c.368T>C
c.*423T>C (n.*423T>C)
c.*712T>C (n.*712T>C)
c.517T>C (p.Cys173Arg)
n.2452T>C
Xg.153592616A>TCA415087883CCNQc.547T>A (p.Cys183Ser)
c.193+1931T>A
c.421T>A (p.Cys141Ser)
c.277+3388T>A
c.368T>A
c.*423T>A (n.*423T>A)
c.*712T>A (n.*712T>A)
c.517T>A (p.Cys173Ser)
n.2452T>A
Xg.153592617C>ACA519213950CCNQc.546G>T (p.Leu182=)
c.193+1930G>T
c.420G>T (p.Leu140=)
c.277+3387G>T
c.367G>T
c.*422G>T (n.*422G>T)
c.*711G>T (n.*711G>T)
c.516G>T (p.Leu172=)
n.2451G>T
Xg.153592617C>GCA519213948CCNQc.546G>C (p.Leu182=)
c.193+1930G>C
c.420G>C (p.Leu140=)
c.277+3387G>C
c.367G>C
c.*422G>C (n.*422G>C)
c.*711G>C (n.*711G>C)
c.516G>C (p.Leu172=)
n.2451G>C
Xg.153592617C>TCA519213946CCNQc.546G>A (p.Leu182=)
c.193+1930G>A
c.420G>A (p.Leu140=)
c.277+3387G>A
c.367G>A
c.*422G>A (n.*422G>A)
c.*711G>A (n.*711G>A)
c.516G>A (p.Leu172=)
n.2451G>A
Xg.153592618A>CCA415087885CCNQc.545T>G (p.Leu182Arg)
c.193+1929T>G
c.419T>G (p.Leu140Arg)
c.277+3386T>G
c.366T>G
c.*421T>G (n.*421T>G)
c.*710T>G (n.*710T>G)
c.515T>G (p.Leu172Arg)
n.2450T>G
Xg.153592618A>GCA415087888CCNQc.545T>C (p.Leu182Pro)
c.193+1929T>C
c.419T>C (p.Leu140Pro)
c.277+3386T>C
c.366T>C
c.*421T>C (n.*421T>C)
c.*710T>C (n.*710T>C)
c.515T>C (p.Leu172Pro)
n.2450T>C
Xg.153592618A>TCA415087891CCNQc.545T>A (p.Leu182Gln)
c.193+1929T>A
c.419T>A (p.Leu140Gln)
c.277+3386T>A
c.366T>A
c.*421T>A (n.*421T>A)
c.*710T>A (n.*710T>A)
c.515T>A (p.Leu172Gln)
n.2450T>A
Xg.153592619G>ACA519213968CCNQc.544C>T (p.Leu182=)
c.193+1928C>T
c.418C>T (p.Leu140=)
c.277+3385C>T
c.365C>T
c.*420C>T (n.*420C>T)
c.*709C>T (n.*709C>T)
c.514C>T (p.Leu172=)
n.2449C>T
 dbSNP gnomAD v4
Xg.153592619G>CCA10548387CCNQc.544C>G (p.Leu182Val)
c.193+1928C>G
c.418C>G (p.Leu140Val)
c.277+3385C>G
c.365C>G
c.*420C>G (n.*420C>G)
c.*709C>G (n.*709C>G)
c.514C>G (p.Leu172Val)
n.2449C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592619G=CA2466399757CCNQc.544C= (p.Leu182=)
c.193+1928C=
c.418C= (p.Leu140=)
c.277+3385C=
c.365C=
c.*420C= (n.*420C=)
c.*709C= (n.*709C=)
c.514C= (p.Leu172=)
n.2449C=
Xg.153592619G>TCA415087894CCNQc.544C>A (p.Leu182Met)
c.193+1928C>A
c.418C>A (p.Leu140Met)
c.277+3385C>A
c.365C>A
c.*420C>A (n.*420C>A)
c.*709C>A (n.*709C>A)
c.514C>A (p.Leu172Met)
n.2449C>A
Xg.153592620C>ACA519213974CCNQc.543G>T (p.Ala181=)
c.193+1927G>T
c.417G>T (p.Ala139=)
c.277+3384G>T
c.364G>T
c.*419G>T (n.*419G>T)
c.*708G>T (n.*708G>T)
c.513G>T (p.Ala171=)
n.2448G>T
Xg.153592620C=CA2466399758CCNQc.543G= (p.Ala181=)
c.193+1927G=
c.417G= (p.Ala139=)
c.277+3384G=
c.364G=
c.*419G= (n.*419G=)
c.*708G= (n.*708G=)
c.513G= (p.Ala171=)
n.2448G=
Xg.153592620C>GCA519213976CCNQc.543G>C (p.Ala181=)
c.193+1927G>C
c.417G>C (p.Ala139=)
c.277+3384G>C
c.364G>C
c.*419G>C (n.*419G>C)
c.*708G>C (n.*708G>C)
c.513G>C (p.Ala171=)
n.2448G>C
 gnomAD v4
Xg.153592620C>TCA519213978CCNQc.543G>A (p.Ala181=)
c.193+1927G>A
c.417G>A (p.Ala139=)
c.277+3384G>A
c.364G>A
c.*419G>A (n.*419G>A)
c.*708G>A (n.*708G>A)
c.513G>A (p.Ala171=)
n.2448G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592621G>ACA10548389CCNQc.542C>T (p.Ala181Val)
c.193+1926C>T
c.416C>T (p.Ala139Val)
c.277+3383C>T
c.363C>T
c.*418C>T (n.*418C>T)
c.*707C>T (n.*707C>T)
c.512C>T (p.Ala171Val)
n.2447C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592621G>CCA10548388CCNQc.542C>G (p.Ala181Gly)
c.193+1926C>G
c.416C>G (p.Ala139Gly)
c.277+3383C>G
c.363C>G
c.*418C>G (n.*418C>G)
c.*707C>G (n.*707C>G)
c.512C>G (p.Ala171Gly)
n.2447C>G
 dbSNP ExAC gnomAD v2
Xg.153592621G=CA2466399759CCNQc.542C= (p.Ala181=)
c.193+1926C=
c.416C= (p.Ala139=)
c.277+3383C=
c.363C=
c.*418C= (n.*418C=)
c.*707C= (n.*707C=)
c.512C= (p.Ala171=)
n.2447C=
Xg.153592621G>TCA415087900CCNQc.542C>A (p.Ala181Glu)
c.193+1926C>A
c.416C>A (p.Ala139Glu)
c.277+3383C>A
c.363C>A
c.*418C>A (n.*418C>A)
c.*707C>A (n.*707C>A)
c.512C>A (p.Ala171Glu)
n.2447C>A
Xg.153592622C>ACA415087905CCNQc.541G>T (p.Ala181Ser)
c.193+1925G>T
c.415G>T (p.Ala139Ser)
c.277+3382G>T
c.362G>T
c.*417G>T (n.*417G>T)
c.*706G>T (n.*706G>T)
c.511G>T (p.Ala171Ser)
n.2446G>T
Xg.153592622C>GCA415087912CCNQc.541G>C (p.Ala181Pro)
c.193+1925G>C
c.415G>C (p.Ala139Pro)
c.277+3382G>C
c.362G>C
c.*417G>C (n.*417G>C)
c.*706G>C (n.*706G>C)
c.511G>C (p.Ala171Pro)
n.2446G>C
Xg.153592622C>TCA415087915CCNQc.541G>A (p.Ala181Thr)
c.193+1925G>A
c.415G>A (p.Ala139Thr)
c.277+3382G>A
c.362G>A
c.*417G>A (n.*417G>A)
c.*706G>A (n.*706G>A)
c.511G>A (p.Ala171Thr)
n.2446G>A
Xg.153592625delCA645602607CCNQc.541del (p.Ala181ArgfsTer?)
c.193+1925del
c.415del (p.Ala139ArgfsTer?)
c.277+3382del
c.362del
c.*417del (n.*417del)
c.*706del (n.*706del)
c.511del (p.Ala171ArgfsTer?)
n.2446del
 COSMIC
Xg.153592623C>ACA10548390CCNQc.540G>T (p.Gly180=)
c.193+1924G>T
c.414G>T (p.Gly138=)
c.277+3381G>T
c.361G>T
c.*416G>T (n.*416G>T)
c.*705G>T (n.*705G>T)
c.510G>T (p.Gly170=)
n.2445G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592623C=CA2466399760CCNQc.540G= (p.Gly180=)
c.193+1924G=
c.414G= (p.Gly138=)
c.277+3381G=
c.361G=
c.*416G= (n.*416G=)
c.*705G= (n.*705G=)
c.510G= (p.Gly170=)
n.2445G=
Xg.153592623C>GCA519214010CCNQc.540G>C (p.Gly180=)
c.193+1924G>C
c.414G>C (p.Gly138=)
c.277+3381G>C
c.361G>C
c.*416G>C (n.*416G>C)
c.*705G>C (n.*705G>C)
c.510G>C (p.Gly170=)
n.2445G>C
Xg.153592623C>TCA519214005CCNQc.540G>A (p.Gly180=)
c.193+1924G>A
c.414G>A (p.Gly138=)
c.277+3381G>A
c.361G>A
c.*416G>A (n.*416G>A)
c.*705G>A (n.*705G>A)
c.510G>A (p.Gly170=)
n.2445G>A
Xg.153592624C>ACA415087921CCNQc.539G>T (p.Gly180Val)
c.193+1923G>T
c.413G>T (p.Gly138Val)
c.277+3380G>T
c.360G>T
c.*415G>T (n.*415G>T)
c.*704G>T (n.*704G>T)
c.509G>T (p.Gly170Val)
n.2444G>T
Xg.153592624C>GCA415087924CCNQc.539G>C (p.Gly180Ala)
c.193+1923G>C
c.413G>C (p.Gly138Ala)
c.277+3380G>C
c.360G>C
c.*415G>C (n.*415G>C)
c.*704G>C (n.*704G>C)
c.509G>C (p.Gly170Ala)
n.2444G>C
Xg.153592624C>TCA415087927CCNQc.539G>A (p.Gly180Glu)
c.193+1923G>A
c.413G>A (p.Gly138Glu)
c.277+3380G>A
c.360G>A
c.*415G>A (n.*415G>A)
c.*704G>A (n.*704G>A)
c.509G>A (p.Gly170Glu)
n.2444G>A
 gnomAD v4
Xg.153592625C>ACA415087933CCNQc.538G>T (p.Gly180Trp)
c.193+1922G>T
c.412G>T (p.Gly138Trp)
c.277+3379G>T
c.359G>T
c.*414G>T (n.*414G>T)
c.*703G>T (n.*703G>T)
c.508G>T (p.Gly170Trp)
n.2443G>T
Xg.153592625C=CA2466399761CCNQc.538G= (p.Gly180=)
c.193+1922G=
c.412G= (p.Gly138=)
c.277+3379G=
c.359G=
c.*414G= (n.*414G=)
c.*703G= (n.*703G=)
c.508G= (p.Gly170=)
n.2443G=
Xg.153592625C>GCA415087935CCNQc.538G>C (p.Gly180Arg)
c.193+1922G>C
c.412G>C (p.Gly138Arg)
c.277+3379G>C
c.359G>C
c.*414G>C (n.*414G>C)
c.*703G>C (n.*703G>C)
c.508G>C (p.Gly170Arg)
n.2443G>C
Xg.153592625C>TCA415087938CCNQc.538G>A (p.Gly180Arg)
c.193+1922G>A
c.412G>A (p.Gly138Arg)
c.277+3379G>A
c.359G>A
c.*414G>A (n.*414G>A)
c.*703G>A (n.*703G>A)
c.508G>A (p.Gly170Arg)
n.2443G>A
 ClinVar dbSNP gnomAD v4
Xg.153592626delCA2824267945CCNQc.537del (p.His179GlnfsTer?)
c.193+1921del
c.411del (p.His137GlnfsTer?)
c.277+3378del
c.358del
c.*413del (n.*413del)
c.*702del (n.*702del)
c.507del (p.His169GlnfsTer?)
n.2442del
Xg.153592626A>CCA415087941CCNQc.537T>G (p.His179Gln)
c.193+1921T>G
c.411T>G (p.His137Gln)
c.277+3378T>G
c.358T>G
c.*413T>G (n.*413T>G)
c.*702T>G (n.*702T>G)
c.507T>G (p.His169Gln)
n.2442T>G
Xg.153592626A>GCA519214038CCNQc.537T>C (p.His179=)
c.193+1921T>C
c.411T>C (p.His137=)
c.277+3378T>C
c.358T>C
c.*413T>C (n.*413T>C)
c.*702T>C (n.*702T>C)
c.507T>C (p.His169=)
n.2442T>C
Xg.153592626A>TCA415087940CCNQc.537T>A (p.His179Gln)
c.193+1921T>A
c.411T>A (p.His137Gln)
c.277+3378T>A
c.358T>A
c.*413T>A (n.*413T>A)
c.*702T>A (n.*702T>A)
c.507T>A (p.His169Gln)
n.2442T>A
Xg.153592627T>ACA415087944CCNQc.536A>T (p.His179Leu)
c.193+1920A>T
c.410A>T (p.His137Leu)
c.277+3377A>T
c.357A>T
c.*412A>T (n.*412A>T)
c.*701A>T (n.*701A>T)
c.506A>T (p.His169Leu)
n.2441A>T
Xg.153592627T>CCA415087946CCNQc.536A>G (p.His179Arg)
c.193+1920A>G
c.410A>G (p.His137Arg)
c.277+3377A>G
c.357A>G
c.*412A>G (n.*412A>G)
c.*701A>G (n.*701A>G)
c.506A>G (p.His169Arg)
n.2441A>G
Xg.153592627T>GCA415087949CCNQc.536A>C (p.His179Pro)
c.193+1920A>C
c.410A>C (p.His137Pro)
c.277+3377A>C
c.357A>C
c.*412A>C (n.*412A>C)
c.*701A>C (n.*701A>C)
c.506A>C (p.His169Pro)
n.2441A>C
Xg.153592628G>ACA415087953CCNQc.535C>T (p.His179Tyr)
c.193+1919C>T
c.409C>T (p.His137Tyr)
c.277+3376C>T
c.356C>T
c.*411C>T (n.*411C>T)
c.*700C>T (n.*700C>T)
c.505C>T (p.His169Tyr)
n.2440C>T
 dbSNP
Xg.153592628G>CCA415087955CCNQc.535C>G (p.His179Asp)
c.193+1919C>G
c.409C>G (p.His137Asp)
c.277+3376C>G
c.356C>G
c.*411C>G (n.*411C>G)
c.*700C>G (n.*700C>G)
c.505C>G (p.His169Asp)
n.2440C>G
Xg.153592628G=CA2466399762CCNQc.535C= (p.His179=)
c.193+1919C=
c.409C= (p.His137=)
c.277+3376C=
c.356C=
c.*411C= (n.*411C=)
c.*700C= (n.*700C=)
c.505C= (p.His169=)
n.2440C=
Xg.153592628G>TCA415087959CCNQc.535C>A (p.His179Asn)
c.193+1919C>A
c.409C>A (p.His137Asn)
c.277+3376C>A
c.356C>A
c.*411C>A (n.*411C>A)
c.*700C>A (n.*700C>A)
c.505C>A (p.His169Asn)
n.2440C>A
Xg.153592629G>ACA10548391CCNQc.534C>T (p.Tyr178=)
c.193+1918C>T
c.408C>T (p.Tyr136=)
c.277+3375C>T
c.355C>T
c.*410C>T (n.*410C>T)
c.*699C>T (n.*699C>T)
c.504C>T (p.Tyr168=)
n.2439C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592629G>CCA415087965CCNQc.534C>G (p.Tyr178Ter)
c.193+1918C>G
c.408C>G (p.Tyr136Ter)
c.277+3375C>G
c.355C>G
c.*410C>G (n.*410C>G)
c.*699C>G (n.*699C>G)
c.504C>G (p.Tyr168Ter)
n.2439C>G
Xg.153592629G=CA2466399763CCNQc.534C= (p.Tyr178=)
c.193+1918C=
c.408C= (p.Tyr136=)
c.277+3375C=
c.355C=
c.*410C= (n.*410C=)
c.*699C= (n.*699C=)
c.504C= (p.Tyr168=)
n.2439C=
Xg.153592629G>TCA415087968CCNQc.534C>A (p.Tyr178Ter)
c.193+1918C>A
c.408C>A (p.Tyr136Ter)
c.277+3375C>A
c.355C>A
c.*410C>A (n.*410C>A)
c.*699C>A (n.*699C>A)
c.504C>A (p.Tyr168Ter)
n.2439C>A
Xg.153592630T>ACA415087970CCNQc.533A>T (p.Tyr178Phe)
c.193+1917A>T
c.407A>T (p.Tyr136Phe)
c.277+3374A>T
c.354A>T
c.*409A>T (n.*409A>T)
c.*698A>T (n.*698A>T)
c.503A>T (p.Tyr168Phe)
n.2438A>T
Xg.153592630T>CCA415087972CCNQc.533A>G (p.Tyr178Cys)
c.193+1917A>G
c.407A>G (p.Tyr136Cys)
c.277+3374A>G
c.354A>G
c.*409A>G (n.*409A>G)
c.*698A>G (n.*698A>G)
c.503A>G (p.Tyr168Cys)
n.2438A>G
Xg.153592630T>GCA415087974CCNQc.533A>C (p.Tyr178Ser)
c.193+1917A>C
c.407A>C (p.Tyr136Ser)
c.277+3374A>C
c.354A>C
c.*409A>C (n.*409A>C)
c.*698A>C (n.*698A>C)
c.503A>C (p.Tyr168Ser)
n.2438A>C
Xg.153592631A>CCA415087976CCNQc.532T>G (p.Tyr178Asp)
c.193+1916T>G
c.406T>G (p.Tyr136Asp)
c.277+3373T>G
c.353T>G
c.*408T>G (n.*408T>G)
c.*697T>G (n.*697T>G)
c.502T>G (p.Tyr168Asp)
n.2437T>G
Xg.153592631A>GCA415087980CCNQc.532T>C (p.Tyr178His)
c.193+1916T>C
c.406T>C (p.Tyr136His)
c.277+3373T>C
c.353T>C
c.*408T>C (n.*408T>C)
c.*697T>C (n.*697T>C)
c.502T>C (p.Tyr168His)
n.2437T>C
Xg.153592631A>TCA415087978CCNQc.532T>A (p.Tyr178Asn)
c.193+1916T>A
c.406T>A (p.Tyr136Asn)
c.277+3373T>A
c.353T>A
c.*408T>A (n.*408T>A)
c.*697T>A (n.*697T>A)
c.502T>A (p.Tyr168Asn)
n.2437T>A
Xg.153592632G>ACA519214077CCNQc.531C>T (p.Ser177=)
c.193+1915C>T
c.405C>T (p.Ser135=)
c.277+3372C>T
c.352C>T
c.*407C>T (n.*407C>T)
c.*696C>T (n.*696C>T)
c.501C>T (p.Ser167=)
n.2436C>T
Xg.153592632G>CCA415087981CCNQc.531C>G (p.Ser177Arg)
c.193+1915C>G
c.405C>G (p.Ser135Arg)
c.277+3372C>G
c.352C>G
c.*407C>G (n.*407C>G)
c.*696C>G (n.*696C>G)
c.501C>G (p.Ser167Arg)
n.2436C>G
Xg.153592632G>TCA415087983CCNQc.531C>A (p.Ser177Arg)
c.193+1915C>A
c.405C>A (p.Ser135Arg)
c.277+3372C>A
c.352C>A
c.*407C>A (n.*407C>A)
c.*696C>A (n.*696C>A)
c.501C>A (p.Ser167Arg)
n.2436C>A
Xg.153592633C>ACA415087985CCNQc.530G>T (p.Ser177Ile)
c.193+1914G>T
c.404G>T (p.Ser135Ile)
c.277+3371G>T
c.351G>T
c.*406G>T (n.*406G>T)
c.*695G>T (n.*695G>T)
c.500G>T (p.Ser167Ile)
n.2435G>T
Xg.153592633C=CA2466399764CCNQc.530G= (p.Ser177=)
c.193+1914G=
c.404G= (p.Ser135=)
c.277+3371G=
c.351G=
c.*406G= (n.*406G=)
c.*695G= (n.*695G=)
c.500G= (p.Ser167=)
n.2435G=
Xg.153592633C>GCA10548392CCNQc.530G>C (p.Ser177Thr)
c.193+1914G>C
c.404G>C (p.Ser135Thr)
c.277+3371G>C
c.351G>C
c.*406G>C (n.*406G>C)
c.*695G>C (n.*695G>C)
c.500G>C (p.Ser167Thr)
n.2435G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592633C>TCA415087988CCNQc.530G>A (p.Ser177Asn)
c.193+1914G>A
c.404G>A (p.Ser135Asn)
c.277+3371G>A
c.351G>A
c.*406G>A (n.*406G>A)
c.*695G>A (n.*695G>A)
c.500G>A (p.Ser167Asn)
n.2435G>A
Xg.153592634T>ACA415087990CCNQc.529A>T (p.Ser177Cys)
c.193+1913A>T
c.403A>T (p.Ser135Cys)
c.277+3370A>T
c.350A>T
c.*405A>T (n.*405A>T)
c.*694A>T (n.*694A>T)
c.499A>T (p.Ser167Cys)
n.2434A>T
Xg.153592634T>CCA415087992CCNQc.529A>G (p.Ser177Gly)
c.193+1913A>G
c.403A>G (p.Ser135Gly)
c.277+3370A>G
c.350A>G
c.*405A>G (n.*405A>G)
c.*694A>G (n.*694A>G)
c.499A>G (p.Ser167Gly)
n.2434A>G
 gnomAD v4
Xg.153592634T>GCA415087994CCNQc.529A>C (p.Ser177Arg)
c.193+1913A>C
c.403A>C (p.Ser135Arg)
c.277+3370A>C
c.350A>C
c.*405A>C (n.*405A>C)
c.*694A>C (n.*694A>C)
c.499A>C (p.Ser167Arg)
n.2434A>C
Xg.153592635G>ACA519214090CCNQc.528C>T (p.Asp176=)
c.193+1912C>T
c.402C>T (p.Asp134=)
c.277+3369C>T
c.349C>T
c.*404C>T (n.*404C>T)
c.*693C>T (n.*693C>T)
c.498C>T (p.Asp166=)
n.2433C>T
Xg.153592635G>CCA415087995CCNQc.528C>G (p.Asp176Glu)
c.193+1912C>G
c.402C>G (p.Asp134Glu)
c.277+3369C>G
c.349C>G
c.*404C>G (n.*404C>G)
c.*693C>G (n.*693C>G)
c.498C>G (p.Asp166Glu)
n.2433C>G
Xg.153592635G>TCA415087997CCNQc.528C>A (p.Asp176Glu)
c.193+1912C>A
c.402C>A (p.Asp134Glu)
c.277+3369C>A
c.349C>A
c.*404C>A (n.*404C>A)
c.*693C>A (n.*693C>A)
c.498C>A (p.Asp166Glu)
n.2433C>A
Xg.153592636T>ACA415087999CCNQc.527A>T (p.Asp176Val)
c.193+1911A>T
c.401A>T (p.Asp134Val)
c.277+3368A>T
c.348A>T
c.*403A>T (n.*403A>T)
c.*692A>T (n.*692A>T)
c.497A>T (p.Asp166Val)
n.2432A>T
Xg.153592636T>CCA415088001CCNQc.527A>G (p.Asp176Gly)
c.193+1911A>G
c.401A>G (p.Asp134Gly)
c.277+3368A>G
c.348A>G
c.*403A>G (n.*403A>G)
c.*692A>G (n.*692A>G)
c.497A>G (p.Asp166Gly)
n.2432A>G
Xg.153592636T>GCA415088003CCNQc.527A>C (p.Asp176Ala)
c.193+1911A>C
c.401A>C (p.Asp134Ala)
c.277+3368A>C
c.348A>C
c.*403A>C (n.*403A>C)
c.*692A>C (n.*692A>C)
c.497A>C (p.Asp166Ala)
n.2432A>C
Xg.153592637C>ACA415088010CCNQc.526G>T (p.Asp176Tyr)
c.193+1910G>T
c.400G>T (p.Asp134Tyr)
c.277+3367G>T
c.347G>T
c.*402G>T (n.*402G>T)
c.*691G>T (n.*691G>T)
c.496G>T (p.Asp166Tyr)
n.2431G>T
 COSMIC
Xg.153592637C>GCA415088006CCNQc.526G>C (p.Asp176His)
c.193+1910G>C
c.400G>C (p.Asp134His)
c.277+3367G>C
c.347G>C
c.*402G>C (n.*402G>C)
c.*691G>C (n.*691G>C)
c.496G>C (p.Asp166His)
n.2431G>C
Xg.153592637C>TCA415088008CCNQc.526G>A (p.Asp176Asn)
c.193+1910G>A
c.400G>A (p.Asp134Asn)
c.277+3367G>A
c.347G>A
c.*402G>A (n.*402G>A)
c.*691G>A (n.*691G>A)
c.496G>A (p.Asp166Asn)
n.2431G>A
Xg.153592638C>ACA519214106CCNQc.525G>T (p.Arg175=)
c.193+1909G>T
c.399G>T (p.Arg133=)
c.277+3366G>T
c.346G>T
c.*401G>T (n.*401G>T)
c.*690G>T (n.*690G>T)
c.495G>T (p.Arg165=)
n.2430G>T
Xg.153592638C=CA2466399765CCNQc.525G= (p.Arg175=)
c.193+1909G=
c.399G= (p.Arg133=)
c.277+3366G=
c.346G=
c.*401G= (n.*401G=)
c.*690G= (n.*690G=)
c.495G= (p.Arg165=)
n.2430G=
Xg.153592638C>GCA519214108CCNQc.525G>C (p.Arg175=)
c.193+1909G>C
c.399G>C (p.Arg133=)
c.277+3366G>C
c.346G>C
c.*401G>C (n.*401G>C)
c.*690G>C (n.*690G>C)
c.495G>C (p.Arg165=)
n.2430G>C
Xg.153592638C>TCA10548393CCNQc.525G>A (p.Arg175=)
c.193+1909G>A
c.399G>A (p.Arg133=)
c.277+3366G>A
c.346G>A
c.*401G>A (n.*401G>A)
c.*690G>A (n.*690G>A)
c.495G>A (p.Arg165=)
n.2430G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592639C>ACA415088014CCNQc.524G>T (p.Arg175Leu)
c.193+1908G>T
c.398G>T (p.Arg133Leu)
c.277+3365G>T
c.345G>T
c.*400G>T (n.*400G>T)
c.*689G>T (n.*689G>T)
c.494G>T (p.Arg165Leu)
n.2429G>T
Xg.153592639C=CA2466399766CCNQc.524G= (p.Arg175=)
c.193+1908G=
c.398G= (p.Arg133=)
c.277+3365G=
c.345G=
c.*400G= (n.*400G=)
c.*689G= (n.*689G=)
c.494G= (p.Arg165=)
n.2429G=
Xg.153592639C>GCA415088016CCNQc.524G>C (p.Arg175Pro)
c.193+1908G>C
c.398G>C (p.Arg133Pro)
c.277+3365G>C
c.345G>C
c.*400G>C (n.*400G>C)
c.*689G>C (n.*689G>C)
c.494G>C (p.Arg165Pro)
n.2429G>C
Xg.153592639C>TCA337225336CCNQc.524G>A (p.Arg175Gln)
c.193+1908G>A
c.398G>A (p.Arg133Gln)
c.277+3365G>A
c.345G>A
c.*400G>A (n.*400G>A)
c.*689G>A (n.*689G>A)
c.494G>A (p.Arg165Gln)
n.2429G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.153592640G>ACA10548394CCNQc.523C>T (p.Arg175Trp)
c.193+1907C>T
c.397C>T (p.Arg133Trp)
c.277+3364C>T
c.344C>T
c.*399C>T (n.*399C>T)
c.*688C>T (n.*688C>T)
c.493C>T (p.Arg165Trp)
n.2428C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592640G>CCA415088020CCNQc.523C>G (p.Arg175Gly)
c.193+1907C>G
c.397C>G (p.Arg133Gly)
c.277+3364C>G
c.344C>G
c.*399C>G (n.*399C>G)
c.*688C>G (n.*688C>G)
c.493C>G (p.Arg165Gly)
n.2428C>G
Xg.153592640G=CA2466399767CCNQc.523C= (p.Arg175=)
c.193+1907C=
c.397C= (p.Arg133=)
c.277+3364C=
c.344C=
c.*399C= (n.*399C=)
c.*688C= (n.*688C=)
c.493C= (p.Arg165=)
n.2428C=
Xg.153592640G>TCA519214120CCNQc.523C>A (p.Arg175=)
c.193+1907C>A
c.397C>A (p.Arg133=)
c.277+3364C>A
c.344C>A
c.*399C>A (n.*399C>A)
c.*688C>A (n.*688C>A)
c.493C>A (p.Arg165=)
n.2428C>A
Xg.153592641C>ACA519214127CCNQc.522G>T (p.Leu174=)
c.193+1906G>T
c.396G>T (p.Leu132=)
c.277+3363G>T
c.343G>T
c.*398G>T (n.*398G>T)
c.*687G>T (n.*687G>T)
c.492G>T (p.Leu164=)
n.2427G>T
Xg.153592641C>GCA519214129CCNQc.522G>C (p.Leu174=)
c.193+1906G>C
c.396G>C (p.Leu132=)
c.277+3363G>C
c.343G>C
c.*398G>C (n.*398G>C)
c.*687G>C (n.*687G>C)
c.492G>C (p.Leu164=)
n.2427G>C
Xg.153592641C>TCA519214131CCNQc.522G>A (p.Leu174=)
c.193+1906G>A
c.396G>A (p.Leu132=)
c.277+3363G>A
c.343G>A
c.*398G>A (n.*398G>A)
c.*687G>A (n.*687G>A)
c.492G>A (p.Leu164=)
n.2427G>A
Xg.153592642A>CCA415088022CCNQc.521T>G (p.Leu174Arg)
c.193+1905T>G
c.395T>G (p.Leu132Arg)
c.277+3362T>G
c.342T>G
c.*397T>G (n.*397T>G)
c.*686T>G (n.*686T>G)
c.491T>G (p.Leu164Arg)
n.2426T>G
Xg.153592642A>GCA415088024CCNQc.521T>C (p.Leu174Pro)
c.193+1905T>C
c.395T>C (p.Leu132Pro)
c.277+3362T>C
c.342T>C
c.*397T>C (n.*397T>C)
c.*686T>C (n.*686T>C)
c.491T>C (p.Leu164Pro)
n.2426T>C
Xg.153592642A>TCA415088026CCNQc.521T>A (p.Leu174Gln)
c.193+1905T>A
c.395T>A (p.Leu132Gln)
c.277+3362T>A
c.342T>A
c.*397T>A (n.*397T>A)
c.*686T>A (n.*686T>A)
c.491T>A (p.Leu164Gln)
n.2426T>A
Xg.153592643G>ACA519214147CCNQc.520C>T (p.Leu174=)
c.193+1904C>T
c.394C>T (p.Leu132=)
c.277+3361C>T
c.341C>T
c.*396C>T (n.*396C>T)
c.*685C>T (n.*685C>T)
c.490C>T (p.Leu164=)
n.2425C>T
Xg.153592643G>CCA415088028CCNQc.520C>G (p.Leu174Val)
c.193+1904C>G
c.394C>G (p.Leu132Val)
c.277+3361C>G
c.341C>G
c.*396C>G (n.*396C>G)
c.*685C>G (n.*685C>G)
c.490C>G (p.Leu164Val)
n.2425C>G
Xg.153592643G>TCA415088030CCNQc.520C>A (p.Leu174Met)
c.193+1904C>A
c.394C>A (p.Leu132Met)
c.277+3361C>A
c.341C>A
c.*396C>A (n.*396C>A)
c.*685C>A (n.*685C>A)
c.490C>A (p.Leu164Met)
n.2425C>A
Xg.153592644C>ACA519214148CCNQc.519G>T (p.Leu173=)
c.193+1903G>T
c.393G>T (p.Leu131=)
c.277+3360G>T
c.340G>T
c.*395G>T (n.*395G>T)
c.*684G>T (n.*684G>T)
c.489G>T (p.Leu163=)
n.2424G>T
Xg.153592644C>GCA519214165CCNQc.519G>C (p.Leu173=)
c.193+1903G>C
c.393G>C (p.Leu131=)
c.277+3360G>C
c.340G>C
c.*395G>C (n.*395G>C)
c.*684G>C (n.*684G>C)
c.489G>C (p.Leu163=)
n.2424G>C
Xg.153592644C>TCA519214151CCNQc.519G>A (p.Leu173=)
c.193+1903G>A
c.393G>A (p.Leu131=)
c.277+3360G>A
c.340G>A
c.*395G>A (n.*395G>A)
c.*684G>A (n.*684G>A)
c.489G>A (p.Leu163=)
n.2424G>A
Xg.153592645A>CCA415088033CCNQc.518T>G (p.Leu173Arg)
c.193+1902T>G
c.392T>G (p.Leu131Arg)
c.277+3359T>G
c.339T>G
c.*394T>G (n.*394T>G)
c.*683T>G (n.*683T>G)
c.488T>G (p.Leu163Arg)
n.2423T>G
Xg.153592645A>GCA415088038CCNQc.518T>C (p.Leu173Pro)
c.193+1902T>C
c.392T>C (p.Leu131Pro)
c.277+3359T>C
c.339T>C
c.*394T>C (n.*394T>C)
c.*683T>C (n.*683T>C)
c.488T>C (p.Leu163Pro)
n.2423T>C
Xg.153592645A>TCA415088036CCNQc.518T>A (p.Leu173Gln)
c.193+1902T>A
c.392T>A (p.Leu131Gln)
c.277+3359T>A
c.339T>A
c.*394T>A (n.*394T>A)
c.*683T>A (n.*683T>A)
c.488T>A (p.Leu163Gln)
n.2423T>A
Xg.153592645_153592661delinsTCA2695237187CCNQc.502_518delinsA (p.Val168SerfsTer?)
c.193+1886_193+1902delinsA
c.376_392delinsA (p.Val126SerfsTer?)
c.277+3343_277+3359delinsA
c.323_339delinsA
c.*378_*394delinsA (n.*378_*394delinsA)
c.*667_*683delinsA (n.*667_*683delinsA)
c.472_488delinsA (p.Val158SerfsTer?)
n.2407_2423delinsA
Xg.153592646G>ACA519214178CCNQc.517C>T (p.Leu173=)
c.193+1901C>T
c.391C>T (p.Leu131=)
c.277+3358C>T
c.338C>T
c.*393C>T (n.*393C>T)
c.*682C>T (n.*682C>T)
c.487C>T (p.Leu163=)
n.2422C>T
Xg.153592646G>CCA415088041CCNQc.517C>G (p.Leu173Val)
c.193+1901C>G
c.391C>G (p.Leu131Val)
c.277+3358C>G
c.338C>G
c.*393C>G (n.*393C>G)
c.*682C>G (n.*682C>G)
c.487C>G (p.Leu163Val)
n.2422C>G
Xg.153592646G>TCA415088044CCNQc.517C>A (p.Leu173Met)
c.193+1901C>A
c.391C>A (p.Leu131Met)
c.277+3358C>A
c.338C>A
c.*393C>A (n.*393C>A)
c.*682C>A (n.*682C>A)
c.487C>A (p.Leu163Met)
n.2422C>A
Xg.153592647G>ACA519214183CCNQc.516C>T (p.Ala172=)
c.193+1900C>T
c.390C>T (p.Ala130=)
c.277+3357C>T
c.337C>T
c.*392C>T (n.*392C>T)
c.*681C>T (n.*681C>T)
c.486C>T (p.Ala162=)
n.2421C>T
Xg.153592647G>CCA519214187CCNQc.516C>G (p.Ala172=)
c.193+1900C>G
c.390C>G (p.Ala130=)
c.277+3357C>G
c.337C>G
c.*392C>G (n.*392C>G)
c.*681C>G (n.*681C>G)
c.486C>G (p.Ala162=)
n.2421C>G
Xg.153592647G>TCA519214189CCNQc.516C>A (p.Ala172=)
c.193+1900C>A
c.390C>A (p.Ala130=)
c.277+3357C>A
c.337C>A
c.*392C>A (n.*392C>A)
c.*681C>A (n.*681C>A)
c.486C>A (p.Ala162=)
n.2421C>A
 COSMIC
Xg.153592648G>ACA415088047CCNQc.515C>T (p.Ala172Val)
c.193+1899C>T
c.389C>T (p.Ala130Val)
c.277+3356C>T
c.336C>T
c.*391C>T (n.*391C>T)
c.*680C>T (n.*680C>T)
c.485C>T (p.Ala162Val)
n.2420C>T
Xg.153592648G>CCA415088049CCNQc.515C>G (p.Ala172Gly)
c.193+1899C>G
c.389C>G (p.Ala130Gly)
c.277+3356C>G
c.336C>G
c.*391C>G (n.*391C>G)
c.*680C>G (n.*680C>G)
c.485C>G (p.Ala162Gly)
n.2420C>G
 ClinVar
Xg.153592648G>TCA415088053CCNQc.515C>A (p.Ala172Asp)
c.193+1899C>A
c.389C>A (p.Ala130Asp)
c.277+3356C>A
c.336C>A
c.*391C>A (n.*391C>A)
c.*680C>A (n.*680C>A)
c.485C>A (p.Ala162Asp)
n.2420C>A
Xg.153592649C>ACA415088056CCNQc.514G>T (p.Ala172Ser)
c.193+1898G>T
c.388G>T (p.Ala130Ser)
c.277+3355G>T
c.335G>T
c.*390G>T (n.*390G>T)
c.*679G>T (n.*679G>T)
c.484G>T (p.Ala162Ser)
n.2419G>T
 gnomAD v4 COSMIC
Xg.153592649C>GCA415088059CCNQc.514G>C (p.Ala172Pro)
c.193+1898G>C
c.388G>C (p.Ala130Pro)
c.277+3355G>C
c.335G>C
c.*390G>C (n.*390G>C)
c.*679G>C (n.*679G>C)
c.484G>C (p.Ala162Pro)
n.2419G>C
Xg.153592649C>TCA415088061CCNQc.514G>A (p.Ala172Thr)
c.193+1898G>A
c.388G>A (p.Ala130Thr)
c.277+3355G>A
c.335G>A
c.*390G>A (n.*390G>A)
c.*679G>A (n.*679G>A)
c.484G>A (p.Ala162Thr)
n.2419G>A
Xg.153592650C>ACA415088065CCNQc.513G>T (p.Trp171Cys)
c.193+1897G>T
c.387G>T (p.Trp129Cys)
c.277+3354G>T
c.334G>T
c.*389G>T (n.*389G>T)
c.*678G>T (n.*678G>T)
c.483G>T (p.Trp161Cys)
n.2418G>T
Xg.153592650C>GCA415088068CCNQc.513G>C (p.Trp171Cys)
c.193+1897G>C
c.387G>C (p.Trp129Cys)
c.277+3354G>C
c.334G>C
c.*389G>C (n.*389G>C)
c.*678G>C (n.*678G>C)
c.483G>C (p.Trp161Cys)
n.2418G>C
Xg.153592650C>TCA415088070CCNQc.513G>A (p.Trp171Ter)
c.193+1897G>A
c.387G>A (p.Trp129Ter)
c.277+3354G>A
c.334G>A
c.*389G>A (n.*389G>A)
c.*678G>A (n.*678G>A)
c.483G>A (p.Trp161Ter)
n.2418G>A
Xg.153592651C>ACA415088076CCNQc.512G>T (p.Trp171Leu)
c.193+1896G>T
c.386G>T (p.Trp129Leu)
c.277+3353G>T
c.333G>T
c.*388G>T (n.*388G>T)
c.*677G>T (n.*677G>T)
c.482G>T (p.Trp161Leu)
n.2417G>T
Xg.153592651C=CA2466399768CCNQc.512G= (p.Trp171=)
c.193+1896G=
c.386G= (p.Trp129=)
c.277+3353G=
c.333G=
c.*388G= (n.*388G=)
c.*677G= (n.*677G=)
c.482G= (p.Trp161=)
n.2417G=
Xg.153592651C>GCA415088072CCNQc.512G>C (p.Trp171Ser)
c.193+1896G>C
c.386G>C (p.Trp129Ser)
c.277+3353G>C
c.333G>C
c.*388G>C (n.*388G>C)
c.*677G>C (n.*677G>C)
c.482G>C (p.Trp161Ser)
n.2417G>C
Xg.153592651C>TCA415088074CCNQc.512G>A (p.Trp171Ter)
c.193+1896G>A
c.386G>A (p.Trp129Ter)
c.277+3353G>A
c.333G>A
c.*388G>A (n.*388G>A)
c.*677G>A (n.*677G>A)
c.482G>A (p.Trp161Ter)
n.2417G>A
 dbSNP gnomAD v2
Xg.153592652A>CCA415088077CCNQc.511T>G (p.Trp171Gly)
c.193+1895T>G
c.385T>G (p.Trp129Gly)
c.277+3352T>G
c.332T>G
c.*387T>G (n.*387T>G)
c.*676T>G (n.*676T>G)
c.481T>G (p.Trp161Gly)
n.2416T>G
Xg.153592652A>GCA415088079CCNQc.511T>C (p.Trp171Arg)
c.193+1895T>C
c.385T>C (p.Trp129Arg)
c.277+3352T>C
c.332T>C
c.*387T>C (n.*387T>C)
c.*676T>C (n.*676T>C)
c.481T>C (p.Trp161Arg)
n.2416T>C
Xg.153592652A>TCA415088081CCNQc.511T>A (p.Trp171Arg)
c.193+1895T>A
c.385T>A (p.Trp129Arg)
c.277+3352T>A
c.332T>A
c.*387T>A (n.*387T>A)
c.*676T>A (n.*676T>A)
c.481T>A (p.Trp161Arg)
n.2416T>A
Xg.153592653G>ACA519214236CCNQc.510C>T (p.Ala170=)
c.193+1894C>T
c.384C>T (p.Ala128=)
c.277+3351C>T
c.331C>T
c.*386C>T (n.*386C>T)
c.*675C>T (n.*675C>T)
c.480C>T (p.Ala160=)
n.2415C>T
Xg.153592653G>CCA519214243CCNQc.510C>G (p.Ala170=)
c.193+1894C>G
c.384C>G (p.Ala128=)
c.277+3351C>G
c.331C>G
c.*386C>G (n.*386C>G)
c.*675C>G (n.*675C>G)
c.480C>G (p.Ala160=)
n.2415C>G
Xg.153592653G>TCA519214247CCNQc.510C>A (p.Ala170=)
c.193+1894C>A
c.384C>A (p.Ala128=)
c.277+3351C>A
c.331C>A
c.*386C>A (n.*386C>A)
c.*675C>A (n.*675C>A)
c.480C>A (p.Ala160=)
n.2415C>A
Xg.153592654G>ACA415088083CCNQc.509C>T (p.Ala170Val)
c.193+1893C>T
c.383C>T (p.Ala128Val)
c.277+3350C>T
c.330C>T
c.*385C>T (n.*385C>T)
c.*674C>T (n.*674C>T)
c.479C>T (p.Ala160Val)
n.2414C>T
Xg.153592654G>CCA415088085CCNQc.509C>G (p.Ala170Gly)
c.193+1893C>G
c.383C>G (p.Ala128Gly)
c.277+3350C>G
c.330C>G
c.*385C>G (n.*385C>G)
c.*674C>G (n.*674C>G)
c.479C>G (p.Ala160Gly)
n.2414C>G
Xg.153592654G>TCA415088087CCNQc.509C>A (p.Ala170Asp)
c.193+1893C>A
c.383C>A (p.Ala128Asp)
c.277+3350C>A
c.330C>A
c.*385C>A (n.*385C>A)
c.*674C>A (n.*674C>A)
c.479C>A (p.Ala160Asp)
n.2414C>A
Xg.153592655C>ACA415088089CCNQc.508G>T (p.Ala170Ser)
c.193+1892G>T
c.382G>T (p.Ala128Ser)
c.277+3349G>T
c.329G>T
c.*384G>T (n.*384G>T)
c.*673G>T (n.*673G>T)
c.478G>T (p.Ala160Ser)
n.2413G>T
 gnomAD v4
Xg.153592655C=CA2466399769CCNQc.508G= (p.Ala170=)
c.193+1892G=
c.382G= (p.Ala128=)
c.277+3349G=
c.329G=
c.*384G= (n.*384G=)
c.*673G= (n.*673G=)
c.478G= (p.Ala160=)
n.2413G=
Xg.153592655C>GCA415088092CCNQc.508G>C (p.Ala170Pro)
c.193+1892G>C
c.382G>C (p.Ala128Pro)
c.277+3349G>C
c.329G>C
c.*384G>C (n.*384G>C)
c.*673G>C (n.*673G>C)
c.478G>C (p.Ala160Pro)
n.2413G>C
Xg.153592655C>TCA415088093CCNQc.508G>A (p.Ala170Thr)
c.193+1892G>A
c.382G>A (p.Ala128Thr)
c.277+3349G>A
c.329G>A
c.*384G>A (n.*384G>A)
c.*673G>A (n.*673G>A)
c.478G>A (p.Ala160Thr)
n.2413G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.153592656G>ACA10548395CCNQc.507C>T (p.Thr169=)
c.193+1891C>T
c.381C>T (p.Thr127=)
c.277+3348C>T
c.328C>T
c.*383C>T (n.*383C>T)
c.*672C>T (n.*672C>T)
c.477C>T (p.Thr159=)
n.2412C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592656G>CCA519214289CCNQc.507C>G (p.Thr169=)
c.193+1891C>G
c.381C>G (p.Thr127=)
c.277+3348C>G
c.328C>G
c.*383C>G (n.*383C>G)
c.*672C>G (n.*672C>G)
c.477C>G (p.Thr159=)
n.2412C>G
Xg.153592656G=CA2466399770CCNQc.507C= (p.Thr169=)
c.193+1891C=
c.381C= (p.Thr127=)
c.277+3348C=
c.328C=
c.*383C= (n.*383C=)
c.*672C= (n.*672C=)
c.477C= (p.Thr159=)
n.2412C=
Xg.153592656G>TCA519214291CCNQc.507C>A (p.Thr169=)
c.193+1891C>A
c.381C>A (p.Thr127=)
c.277+3348C>A
c.328C>A
c.*383C>A (n.*383C>A)
c.*672C>A (n.*672C>A)
c.477C>A (p.Thr159=)
n.2412C>A
 dbSNP
Xg.153592657G>ACA415088099CCNQc.506C>T (p.Thr169Ile)
c.193+1890C>T
c.380C>T (p.Thr127Ile)
c.277+3347C>T
c.327C>T
c.*382C>T (n.*382C>T)
c.*671C>T (n.*671C>T)
c.476C>T (p.Thr159Ile)
n.2411C>T
Xg.153592657G>CCA415088098CCNQc.506C>G (p.Thr169Ser)
c.193+1890C>G
c.380C>G (p.Thr127Ser)
c.277+3347C>G
c.327C>G
c.*382C>G (n.*382C>G)
c.*671C>G (n.*671C>G)
c.476C>G (p.Thr159Ser)
n.2411C>G
Xg.153592657G>TCA415088097CCNQc.506C>A (p.Thr169Asn)
c.193+1890C>A
c.380C>A (p.Thr127Asn)
c.277+3347C>A
c.327C>A
c.*382C>A (n.*382C>A)
c.*671C>A (n.*671C>A)
c.476C>A (p.Thr159Asn)
n.2411C>A
Xg.153592658T>ACA415088103CCNQc.505A>T (p.Thr169Ser)
c.193+1889A>T
c.379A>T (p.Thr127Ser)
c.277+3346A>T
c.326A>T
c.*381A>T (n.*381A>T)
c.*670A>T (n.*670A>T)
c.475A>T (p.Thr159Ser)
n.2410A>T
Xg.153592658T>CCA415088101CCNQc.505A>G (p.Thr169Ala)
c.193+1889A>G
c.379A>G (p.Thr127Ala)
c.277+3346A>G
c.326A>G
c.*381A>G (n.*381A>G)
c.*670A>G (n.*670A>G)
c.475A>G (p.Thr159Ala)
n.2410A>G
 gnomAD v4
Xg.153592658T>GCA415088102CCNQc.505A>C (p.Thr169Pro)
c.193+1889A>C
c.379A>C (p.Thr127Pro)
c.277+3346A>C
c.326A>C
c.*381A>C (n.*381A>C)
c.*670A>C (n.*670A>C)
c.475A>C (p.Thr159Pro)
n.2410A>C
Xg.153592659G>ACA519214293CCNQc.504C>T (p.Val168=)
c.193+1888C>T
c.378C>T (p.Val126=)
c.277+3345C>T
c.325C>T
c.*380C>T (n.*380C>T)
c.*669C>T (n.*669C>T)
c.474C>T (p.Val158=)
n.2409C>T
Xg.153592659G>CCA519214298CCNQc.504C>G (p.Val168=)
c.193+1888C>G
c.378C>G (p.Val126=)
c.277+3345C>G
c.325C>G
c.*380C>G (n.*380C>G)
c.*669C>G (n.*669C>G)
c.474C>G (p.Val158=)
n.2409C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.153592659G=CA2466399771CCNQc.504C= (p.Val168=)
c.193+1888C=
c.378C= (p.Val126=)
c.277+3345C=
c.325C=
c.*380C= (n.*380C=)
c.*669C= (n.*669C=)
c.474C= (p.Val158=)
n.2409C=
Xg.153592659G>TCA519214313CCNQc.504C>A (p.Val168=)
c.193+1888C>A
c.378C>A (p.Val126=)
c.277+3345C>A
c.325C>A
c.*380C>A (n.*380C>A)
c.*669C>A (n.*669C>A)
c.474C>A (p.Val158=)
n.2409C>A
 COSMIC
Xg.153592660A>CCA415088105CCNQc.503T>G (p.Val168Gly)
c.193+1887T>G
c.377T>G (p.Val126Gly)
c.277+3344T>G
c.324T>G
c.*379T>G (n.*379T>G)
c.*668T>G (n.*668T>G)
c.473T>G (p.Val158Gly)
n.2408T>G
Xg.153592660A>GCA415088108CCNQc.503T>C (p.Val168Ala)
c.193+1887T>C
c.377T>C (p.Val126Ala)
c.277+3344T>C
c.324T>C
c.*379T>C (n.*379T>C)
c.*668T>C (n.*668T>C)
c.473T>C (p.Val158Ala)
n.2408T>C
Xg.153592660A>TCA415088111CCNQc.503T>A (p.Val168Asp)
c.193+1887T>A
c.377T>A (p.Val126Asp)
c.277+3344T>A
c.324T>A
c.*379T>A (n.*379T>A)
c.*668T>A (n.*668T>A)
c.473T>A (p.Val158Asp)
n.2408T>A
Xg.153592661C>ACA10548396CCNQc.502G>T (p.Val168Phe)
c.193+1886G>T
c.376G>T (p.Val126Phe)
c.277+3343G>T
c.323G>T
c.*378G>T (n.*378G>T)
c.*667G>T (n.*667G>T)
c.472G>T (p.Val158Phe)
n.2407G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592661C=CA2466399772CCNQc.502G= (p.Val168=)
c.193+1886G=
c.376G= (p.Val126=)
c.277+3343G=
c.323G=
c.*378G= (n.*378G=)
c.*667G= (n.*667G=)
c.472G= (p.Val158=)
n.2407G=
Xg.153592661C>GCA415088117CCNQc.502G>C (p.Val168Leu)
c.193+1886G>C
c.376G>C (p.Val126Leu)
c.277+3343G>C
c.323G>C
c.*378G>C (n.*378G>C)
c.*667G>C (n.*667G>C)
c.472G>C (p.Val158Leu)
n.2407G>C
Xg.153592661C>TCA10548397CCNQc.502G>A (p.Val168Ile)
c.193+1886G>A
c.376G>A (p.Val126Ile)
c.277+3343G>A
c.323G>A
c.*378G>A (n.*378G>A)
c.*667G>A (n.*667G>A)
c.472G>A (p.Val158Ile)
n.2407G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153592662G>ACA10548398CCNQc.501C>T (p.Ala167=)
c.193+1885C>T
c.375C>T (p.Ala125=)
c.277+3342C>T
c.322C>T
c.*377C>T (n.*377C>T)
c.*666C>T (n.*666C>T)
c.471C>T (p.Ala157=)
n.2406C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592662G>CCA519214334CCNQc.501C>G (p.Ala167=)
c.193+1885C>G
c.375C>G (p.Ala125=)
c.277+3342C>G
c.322C>G
c.*377C>G (n.*377C>G)
c.*666C>G (n.*666C>G)
c.471C>G (p.Ala157=)
n.2406C>G
Xg.153592662G=CA2466399773CCNQc.501C= (p.Ala167=)
c.193+1885C=
c.375C= (p.Ala125=)
c.277+3342C=
c.322C=
c.*377C= (n.*377C=)
c.*666C= (n.*666C=)
c.471C= (p.Ala157=)
n.2406C=
Xg.153592662G>TCA519214337CCNQc.501C>A (p.Ala167=)
c.193+1885C>A
c.375C>A (p.Ala125=)
c.277+3342C>A
c.322C>A
c.*377C>A (n.*377C>A)
c.*666C>A (n.*666C>A)
c.471C>A (p.Ala157=)
n.2406C>A
Xg.153592663G>ACA415088123CCNQc.500C>T (p.Ala167Val)
c.193+1884C>T
c.374C>T (p.Ala125Val)
c.277+3341C>T
c.321C>T
c.*376C>T (n.*376C>T)
c.*665C>T (n.*665C>T)
c.470C>T (p.Ala157Val)
n.2405C>T
Xg.153592663G>CCA415088125CCNQc.500C>G (p.Ala167Gly)
c.193+1884C>G
c.374C>G (p.Ala125Gly)
c.277+3341C>G
c.321C>G
c.*376C>G (n.*376C>G)
c.*665C>G (n.*665C>G)
c.470C>G (p.Ala157Gly)
n.2405C>G
Xg.153592663G>TCA415088127CCNQc.500C>A (p.Ala167Asp)
c.193+1884C>A
c.374C>A (p.Ala125Asp)
c.277+3341C>A
c.321C>A
c.*376C>A (n.*376C>A)
c.*665C>A (n.*665C>A)
c.470C>A (p.Ala157Asp)
n.2405C>A
 gnomAD v4
Xg.153592664C>ACA415088136CCNQc.499G>T (p.Ala167Ser)
c.193+1883G>T
c.373G>T (p.Ala125Ser)
c.277+3340G>T
c.320G>T
c.*375G>T (n.*375G>T)
c.*664G>T (n.*664G>T)
c.469G>T (p.Ala157Ser)
n.2404G>T
Xg.153592664C=CA2466399774CCNQc.499G= (p.Ala167=)
c.193+1883G=
c.373G= (p.Ala125=)
c.277+3340G=
c.320G=
c.*375G= (n.*375G=)
c.*664G= (n.*664G=)
c.469G= (p.Ala157=)
n.2404G=
Xg.153592664C>GCA415088134CCNQc.499G>C (p.Ala167Pro)
c.193+1883G>C
c.373G>C (p.Ala125Pro)
c.277+3340G>C
c.320G>C
c.*375G>C (n.*375G>C)
c.*664G>C (n.*664G>C)
c.469G>C (p.Ala157Pro)
n.2404G>C
 dbSNP
Xg.153592664C>TCA415088132CCNQc.499G>A (p.Ala167Thr)
c.193+1883G>A
c.373G>A (p.Ala125Thr)
c.277+3340G>A
c.320G>A
c.*375G>A (n.*375G>A)
c.*664G>A (n.*664G>A)
c.469G>A (p.Ala157Thr)
n.2404G>A
Xg.153592665A>CCA519214364CCNQc.498T>G (p.Val166=)
c.193+1882T>G
c.372T>G (p.Val124=)
c.277+3339T>G
c.319T>G
c.*374T>G (n.*374T>G)
c.*663T>G (n.*663T>G)
c.468T>G (p.Val156=)
n.2403T>G
Xg.153592665A>GCA519214360CCNQc.498T>C (p.Val166=)
c.193+1882T>C
c.372T>C (p.Val124=)
c.277+3339T>C
c.319T>C
c.*374T>C (n.*374T>C)
c.*663T>C (n.*663T>C)
c.468T>C (p.Val156=)
n.2403T>C
 COSMIC
Xg.153592665A>TCA519214363CCNQc.498T>A (p.Val166=)
c.193+1882T>A
c.372T>A (p.Val124=)
c.277+3339T>A
c.319T>A
c.*374T>A (n.*374T>A)
c.*663T>A (n.*663T>A)
c.468T>A (p.Val156=)
n.2403T>A
Xg.153592666A>CCA415088140CCNQc.497T>G (p.Val166Gly)
c.193+1881T>G
c.371T>G (p.Val124Gly)
c.277+3338T>G
c.318T>G
c.*373T>G (n.*373T>G)
c.*662T>G (n.*662T>G)
c.467T>G (p.Val156Gly)
n.2402T>G
Xg.153592666A>GCA415088142CCNQc.497T>C (p.Val166Ala)
c.193+1881T>C
c.371T>C (p.Val124Ala)
c.277+3338T>C
c.318T>C
c.*373T>C (n.*373T>C)
c.*662T>C (n.*662T>C)
c.467T>C (p.Val156Ala)
n.2402T>C
Xg.153592666A>TCA415088144CCNQc.497T>A (p.Val166Asp)
c.193+1881T>A
c.371T>A (p.Val124Asp)
c.277+3338T>A
c.318T>A
c.*373T>A (n.*373T>A)
c.*662T>A (n.*662T>A)
c.467T>A (p.Val156Asp)
n.2402T>A
Xg.153592667C>ACA415088147CCNQc.496G>T (p.Val166Phe)
c.193+1880G>T
c.370G>T (p.Val124Phe)
c.277+3337G>T
c.317G>T
c.*372G>T (n.*372G>T)
c.*661G>T (n.*661G>T)
c.466G>T (p.Val156Phe)
n.2401G>T
Xg.153592667C>GCA415088150CCNQc.496G>C (p.Val166Leu)
c.193+1880G>C
c.370G>C (p.Val124Leu)
c.277+3337G>C
c.317G>C
c.*372G>C (n.*372G>C)
c.*661G>C (n.*661G>C)
c.466G>C (p.Val156Leu)
n.2401G>C
Xg.153592667C>TCA415088153CCNQc.496G>A (p.Val166Ile)
c.193+1880G>A
c.370G>A (p.Val124Ile)
c.277+3337G>A
c.317G>A
c.*372G>A (n.*372G>A)
c.*661G>A (n.*661G>A)
c.466G>A (p.Val156Ile)
n.2401G>A
Xg.153592668A=CA2466399775CCNQc.495T= (p.Pro165=)
c.193+1879T=
c.369T= (p.Pro123=)
c.277+3336T=
c.316T=
c.*371T= (n.*371T=)
c.*660T= (n.*660T=)
c.465T= (p.Pro155=)
n.2400T=
Xg.153592668A>CCA10548399CCNQc.495T>G (p.Pro165=)
c.193+1879T>G
c.369T>G (p.Pro123=)
c.277+3336T>G
c.316T>G
c.*371T>G (n.*371T>G)
c.*660T>G (n.*660T>G)
c.465T>G (p.Pro155=)
n.2400T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592668A>GCA519214376CCNQc.495T>C (p.Pro165=)
c.193+1879T>C
c.369T>C (p.Pro123=)
c.277+3336T>C
c.316T>C
c.*371T>C (n.*371T>C)
c.*660T>C (n.*660T>C)
c.465T>C (p.Pro155=)
n.2400T>C
Xg.153592668A>TCA519214379CCNQc.495T>A (p.Pro165=)
c.193+1879T>A
c.369T>A (p.Pro123=)
c.277+3336T>A
c.316T>A
c.*371T>A (n.*371T>A)
c.*660T>A (n.*660T>A)
c.465T>A (p.Pro155=)
n.2400T>A
Xg.153592669G>ACA415088158CCNQc.494C>T (p.Pro165Leu)
c.193+1878C>T
c.368C>T (p.Pro123Leu)
c.277+3335C>T
c.315C>T
c.*370C>T (n.*370C>T)
c.*659C>T (n.*659C>T)
c.464C>T (p.Pro155Leu)
n.2399C>T
Xg.153592669G>CCA415088161CCNQc.494C>G (p.Pro165Arg)
c.193+1878C>G
c.368C>G (p.Pro123Arg)
c.277+3335C>G
c.315C>G
c.*370C>G (n.*370C>G)
c.*659C>G (n.*659C>G)
c.464C>G (p.Pro155Arg)
n.2399C>G
Xg.153592669G>TCA415088167CCNQc.494C>A (p.Pro165His)
c.193+1878C>A
c.368C>A (p.Pro123His)
c.277+3335C>A
c.315C>A
c.*370C>A (n.*370C>A)
c.*659C>A (n.*659C>A)
c.464C>A (p.Pro155His)
n.2399C>A
Xg.153592670G>ACA415088169CCNQc.493C>T (p.Pro165Ser)
c.193+1877C>T
c.367C>T (p.Pro123Ser)
c.277+3334C>T
c.314C>T
c.*369C>T (n.*369C>T)
c.*658C>T (n.*658C>T)
c.463C>T (p.Pro155Ser)
n.2398C>T
 gnomAD v4
Xg.153592670G>CCA415088171CCNQc.493C>G (p.Pro165Ala)
c.193+1877C>G
c.367C>G (p.Pro123Ala)
c.277+3334C>G
c.314C>G
c.*369C>G (n.*369C>G)
c.*658C>G (n.*658C>G)
c.463C>G (p.Pro155Ala)
n.2398C>G
Xg.153592670G>TCA415088172CCNQc.493C>A (p.Pro165Thr)
c.193+1877C>A
c.367C>A (p.Pro123Thr)
c.277+3334C>A
c.314C>A
c.*369C>A (n.*369C>A)
c.*658C>A (n.*658C>A)
c.463C>A (p.Pro155Thr)
n.2398C>A
Xg.153592671G>ACA519214394CCNQc.492C>T (p.Thr164=)
c.193+1876C>T
c.366C>T (p.Thr122=)
c.277+3333C>T
c.313C>T
c.*368C>T (n.*368C>T)
c.*657C>T (n.*657C>T)
c.462C>T (p.Thr154=)
n.2397C>T
Xg.153592671G>CCA519214395CCNQc.492C>G (p.Thr164=)
c.193+1876C>G
c.366C>G (p.Thr122=)
c.277+3333C>G
c.313C>G
c.*368C>G (n.*368C>G)
c.*657C>G (n.*657C>G)
c.462C>G (p.Thr154=)
n.2397C>G
Xg.153592671G>TCA519214397CCNQc.492C>A (p.Thr164=)
c.193+1876C>A
c.366C>A (p.Thr122=)
c.277+3333C>A
c.313C>A
c.*368C>A (n.*368C>A)
c.*657C>A (n.*657C>A)
c.462C>A (p.Thr154=)
n.2397C>A
Xg.153592672G>ACA415088180CCNQc.491C>T (p.Thr164Ile)
c.193+1875C>T
c.365C>T (p.Thr122Ile)
c.277+3332C>T
c.312C>T
c.*367C>T (n.*367C>T)
c.*656C>T (n.*656C>T)
c.461C>T (p.Thr154Ile)
n.2396C>T
Xg.153592672G>CCA415088178CCNQc.491C>G (p.Thr164Ser)
c.193+1875C>G
c.365C>G (p.Thr122Ser)
c.277+3332C>G
c.312C>G
c.*367C>G (n.*367C>G)
c.*656C>G (n.*656C>G)
c.461C>G (p.Thr154Ser)
n.2396C>G
Xg.153592672G>TCA415088175CCNQc.491C>A (p.Thr164Asn)
c.193+1875C>A
c.365C>A (p.Thr122Asn)
c.277+3332C>A
c.312C>A
c.*367C>A (n.*367C>A)
c.*656C>A (n.*656C>A)
c.461C>A (p.Thr154Asn)
n.2396C>A
Xg.153592673T>ACA337225364CCNQc.490A>T (p.Thr164Ser)
c.193+1874A>T
c.364A>T (p.Thr122Ser)
c.277+3331A>T
c.311A>T
c.*366A>T (n.*366A>T)
c.*655A>T (n.*655A>T)
c.460A>T (p.Thr154Ser)
n.2395A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592673T>CCA415088184CCNQc.490A>G (p.Thr164Ala)
c.193+1874A>G
c.364A>G (p.Thr122Ala)
c.277+3331A>G
c.311A>G
c.*366A>G (n.*366A>G)
c.*655A>G (n.*655A>G)
c.460A>G (p.Thr154Ala)
n.2395A>G
Xg.153592673T>GCA415088186CCNQc.490A>C (p.Thr164Pro)
c.193+1874A>C
c.364A>C (p.Thr122Pro)
c.277+3331A>C
c.311A>C
c.*366A>C (n.*366A>C)
c.*655A>C (n.*655A>C)
c.460A>C (p.Thr154Pro)
n.2395A>C
Xg.153592673T=CA2466399776CCNQc.490A= (p.Thr164=)
c.193+1874A=
c.364A= (p.Thr122=)
c.277+3331A=
c.311A=
c.*366A= (n.*366A=)
c.*655A= (n.*655A=)
c.460A= (p.Thr154=)
n.2395A=
Xg.153592674C>ACA519214425CCNQc.489G>T (p.Arg163=)
c.193+1873G>T
c.363G>T (p.Arg121=)
c.277+3330G>T
c.310G>T
c.*365G>T (n.*365G>T)
c.*654G>T (n.*654G>T)
c.459G>T (p.Arg153=)
n.2394G>T
Xg.153592674C>GCA519214421CCNQc.489G>C (p.Arg163=)
c.193+1873G>C
c.363G>C (p.Arg121=)
c.277+3330G>C
c.310G>C
c.*365G>C (n.*365G>C)
c.*654G>C (n.*654G>C)
c.459G>C (p.Arg153=)
n.2394G>C
Xg.153592674C>TCA519214419CCNQc.489G>A (p.Arg163=)
c.193+1873G>A
c.363G>A (p.Arg121=)
c.277+3330G>A
c.310G>A
c.*365G>A (n.*365G>A)
c.*654G>A (n.*654G>A)
c.459G>A (p.Arg153=)
n.2394G>A
Xg.153592675C>ACA10548400CCNQc.488G>T (p.Arg163Leu)
c.193+1872G>T
c.362G>T (p.Arg121Leu)
c.277+3329G>T
c.309G>T
c.*364G>T (n.*364G>T)
c.*653G>T (n.*653G>T)
c.458G>T (p.Arg153Leu)
n.2393G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153592675C=CA2466399777CCNQc.488G= (p.Arg163=)
c.193+1872G=
c.362G= (p.Arg121=)
c.277+3329G=
c.309G=
c.*364G= (n.*364G=)
c.*653G= (n.*653G=)
c.458G= (p.Arg153=)
n.2393G=
Xg.153592675C>GCA415088190CCNQc.488G>C (p.Arg163Pro)
c.193+1872G>C
c.362G>C (p.Arg121Pro)
c.277+3329G>C
c.309G>C
c.*364G>C (n.*364G>C)
c.*653G>C (n.*653G>C)
c.458G>C (p.Arg153Pro)
n.2393G>C
Xg.153592675C>TCA415088193CCNQc.488G>A (p.Arg163Gln)
c.193+1872G>A
c.362G>A (p.Arg121Gln)
c.277+3329G>A
c.309G>A
c.*364G>A (n.*364G>A)
c.*653G>A (n.*653G>A)
c.458G>A (p.Arg153Gln)
n.2393G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153592676G>ACA415088196CCNQc.487C>T (p.Arg163Trp)
c.193+1871C>T
c.361C>T (p.Arg121Trp)
c.277+3328C>T
c.308C>T
c.*363C>T (n.*363C>T)
c.*652C>T (n.*652C>T)
c.457C>T (p.Arg153Trp)
n.2392C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.153592676G>CCA415088198CCNQc.487C>G (p.Arg163Gly)
c.193+1871C>G
c.361C>G (p.Arg121Gly)
c.277+3328C>G
c.308C>G
c.*363C>G (n.*363C>G)
c.*652C>G (n.*652C>G)
c.457C>G (p.Arg153Gly)
n.2392C>G
Xg.153592676G=CA2466399778CCNQc.487C= (p.Arg163=)
c.193+1871C=
c.361C= (p.Arg121=)
c.277+3328C=
c.308C=
c.*363C= (n.*363C=)
c.*652C= (n.*652C=)
c.457C= (p.Arg153=)
n.2392C=
Xg.153592676G>TCA519214431CCNQc.487C>A (p.Arg163=)
c.193+1871C>A
c.361C>A (p.Arg121=)
c.277+3328C>A
c.308C>A
c.*363C>A (n.*363C>A)
c.*652C>A (n.*652C>A)
c.457C>A (p.Arg153=)
n.2392C>A
Xg.153592677C>ACA415088201CCNQc.486G>T (p.Gln162His)
c.193+1870G>T
c.360G>T (p.Gln120His)
c.277+3327G>T
c.307G>T
c.*362G>T (n.*362G>T)
c.*651G>T (n.*651G>T)
c.456G>T (p.Gln152His)
n.2391G>T
Xg.153592677C>GCA415088205CCNQc.486G>C (p.Gln162His)
c.193+1870G>C
c.360G>C (p.Gln120His)
c.277+3327G>C
c.307G>C
c.*362G>C (n.*362G>C)
c.*651G>C (n.*651G>C)
c.456G>C (p.Gln152His)
n.2391G>C
Xg.153592677C>TCA519214438CCNQc.486G>A (p.Gln162=)
c.193+1870G>A
c.360G>A (p.Gln120=)
c.277+3327G>A
c.307G>A
c.*362G>A (n.*362G>A)
c.*651G>A (n.*651G>A)
c.456G>A (p.Gln152=)
n.2391G>A
Xg.153592678T>ACA415088210CCNQc.485A>T (p.Gln162Leu)
c.193+1869A>T
c.359A>T (p.Gln120Leu)
c.277+3326A>T
c.306A>T
c.*361A>T (n.*361A>T)
c.*650A>T (n.*650A>T)
c.455A>T (p.Gln152Leu)
n.2390A>T
Xg.153592678T>CCA415088212CCNQc.485A>G (p.Gln162Arg)
c.193+1869A>G
c.359A>G (p.Gln120Arg)
c.277+3326A>G
c.306A>G
c.*361A>G (n.*361A>G)
c.*650A>G (n.*650A>G)
c.455A>G (p.Gln152Arg)
n.2390A>G
Xg.153592678T>GCA415088215CCNQc.485A>C (p.Gln162Pro)
c.193+1869A>C
c.359A>C (p.Gln120Pro)
c.277+3326A>C
c.306A>C
c.*361A>C (n.*361A>C)
c.*650A>C (n.*650A>C)
c.455A>C (p.Gln152Pro)
n.2390A>C
Xg.153592679G>ACA415088223CCNQc.484C>T (p.Gln162Ter)
c.193+1868C>T
c.358C>T (p.Gln120Ter)
c.277+3325C>T
c.305C>T
c.*360C>T (n.*360C>T)
c.*649C>T (n.*649C>T)
c.454C>T (p.Gln152Ter)
n.2389C>T
Xg.153592679G>CCA415088218CCNQc.484C>G (p.Gln162Glu)
c.193+1868C>G
c.358C>G (p.Gln120Glu)
c.277+3325C>G
c.305C>G
c.*360C>G (n.*360C>G)
c.*649C>G (n.*649C>G)
c.454C>G (p.Gln152Glu)
n.2389C>G
Xg.153592679G>TCA415088220CCNQc.484C>A (p.Gln162Lys)
c.193+1868C>A
c.358C>A (p.Gln120Lys)
c.277+3325C>A
c.305C>A
c.*360C>A (n.*360C>A)
c.*649C>A (n.*649C>A)
c.454C>A (p.Gln152Lys)
n.2389C>A
Xg.153592680C>ACA415088226CCNQc.483G>T (p.Trp161Cys)
c.193+1867G>T
c.357G>T (p.Trp119Cys)
c.277+3324G>T
c.304G>T
c.*359G>T (n.*359G>T)
c.*648G>T (n.*648G>T)
c.453G>T (p.Trp151Cys)
n.2388G>T
Xg.153592680C>GCA415088229CCNQc.483G>C (p.Trp161Cys)
c.193+1867G>C
c.357G>C (p.Trp119Cys)
c.277+3324G>C
c.304G>C
c.*359G>C (n.*359G>C)
c.*648G>C (n.*648G>C)
c.453G>C (p.Trp151Cys)
n.2388G>C
Xg.153592680C>TCA415088232CCNQc.483G>A (p.Trp161Ter)
c.193+1867G>A
c.357G>A (p.Trp119Ter)
c.277+3324G>A
c.304G>A
c.*359G>A (n.*359G>A)
c.*648G>A (n.*648G>A)
c.453G>A (p.Trp151Ter)
n.2388G>A
Xg.153592681C>ACA415088234CCNQc.482G>T (p.Trp161Leu)
c.193+1866G>T
c.356G>T (p.Trp119Leu)
c.277+3323G>T
c.303G>T
c.*358G>T (n.*358G>T)
c.*647G>T (n.*647G>T)
c.452G>T (p.Trp151Leu)
n.2387G>T
Xg.153592681C>GCA415088236CCNQc.482G>C (p.Trp161Ser)
c.193+1866G>C
c.356G>C (p.Trp119Ser)
c.277+3323G>C
c.303G>C
c.*358G>C (n.*358G>C)
c.*647G>C (n.*647G>C)
c.452G>C (p.Trp151Ser)
n.2387G>C
Xg.153592681C>TCA415088238CCNQc.482G>A (p.Trp161Ter)
c.193+1866G>A
c.356G>A (p.Trp119Ter)
c.277+3323G>A
c.303G>A
c.*358G>A (n.*358G>A)
c.*647G>A (n.*647G>A)
c.452G>A (p.Trp151Ter)
n.2387G>A
Xg.153592682A>CCA415088241CCNQc.481T>G (p.Trp161Gly)
c.193+1865T>G
c.355T>G (p.Trp119Gly)
c.277+3322T>G
c.302T>G
c.*357T>G (n.*357T>G)
c.*646T>G (n.*646T>G)
c.451T>G (p.Trp151Gly)
n.2386T>G
Xg.153592682A>GCA415088244CCNQc.481T>C (p.Trp161Arg)
c.193+1865T>C
c.355T>C (p.Trp119Arg)
c.277+3322T>C
c.302T>C
c.*357T>C (n.*357T>C)
c.*646T>C (n.*646T>C)
c.451T>C (p.Trp151Arg)
n.2386T>C
Xg.153592682A>TCA415088246CCNQc.481T>A (p.Trp161Arg)
c.193+1865T>A
c.355T>A (p.Trp119Arg)
c.277+3322T>A
c.302T>A
c.*357T>A (n.*357T>A)
c.*646T>A (n.*646T>A)
c.451T>A (p.Trp151Arg)
n.2386T>A
Xg.153592683G>ACA519214461CCNQc.480C>T (p.Ser160=)
c.193+1864C>T
c.354C>T (p.Ser118=)
c.277+3321C>T
c.301C>T
c.*356C>T (n.*356C>T)
c.*645C>T (n.*645C>T)
c.450C>T (p.Ser150=)
n.2385C>T
 gnomAD v4
Xg.153592683G>CCA415088248CCNQc.480C>G (p.Ser160Arg)
c.193+1864C>G
c.354C>G (p.Ser118Arg)
c.277+3321C>G
c.301C>G
c.*356C>G (n.*356C>G)
c.*645C>G (n.*645C>G)
c.450C>G (p.Ser150Arg)
n.2385C>G
Xg.153592683G>TCA415088252CCNQc.480C>A (p.Ser160Arg)
c.193+1864C>A
c.354C>A (p.Ser118Arg)
c.277+3321C>A
c.301C>A
c.*356C>A (n.*356C>A)
c.*645C>A (n.*645C>A)
c.450C>A (p.Ser150Arg)
n.2385C>A
Xg.153592684C>ACA415088256CCNQc.479G>T (p.Ser160Ile)
c.193+1863G>T
c.353G>T (p.Ser118Ile)
c.277+3320G>T
c.300G>T
c.*355G>T (n.*355G>T)
c.*644G>T (n.*644G>T)
c.449G>T (p.Ser150Ile)
n.2384G>T
Xg.153592684C>GCA415088262CCNQc.479G>C (p.Ser160Thr)
c.193+1863G>C
c.353G>C (p.Ser118Thr)
c.277+3320G>C
c.300G>C
c.*355G>C (n.*355G>C)
c.*644G>C (n.*644G>C)
c.449G>C (p.Ser150Thr)
n.2384G>C
Xg.153592684C>TCA415088259CCNQc.479G>A (p.Ser160Asn)
c.193+1863G>A
c.353G>A (p.Ser118Asn)
c.277+3320G>A
c.300G>A
c.*355G>A (n.*355G>A)
c.*644G>A (n.*644G>A)
c.449G>A (p.Ser150Asn)
n.2384G>A
 COSMIC
Xg.153592685T>ACA415088265CCNQc.478A>T (p.Ser160Cys)
c.193+1862A>T
c.352A>T (p.Ser118Cys)
c.277+3319A>T
c.299A>T
c.*354A>T (n.*354A>T)
c.*643A>T (n.*643A>T)
c.448A>T (p.Ser150Cys)
n.2383A>T
Xg.153592685T>CCA415088276CCNQc.478A>G (p.Ser160Gly)
c.193+1862A>G
c.352A>G (p.Ser118Gly)
c.277+3319A>G
c.299A>G
c.*354A>G (n.*354A>G)
c.*643A>G (n.*643A>G)
c.448A>G (p.Ser150Gly)
n.2383A>G
Xg.153592685T>GCA415088268CCNQc.478A>C (p.Ser160Arg)
c.193+1862A>C
c.352A>C (p.Ser118Arg)
c.277+3319A>C
c.299A>C
c.*354A>C (n.*354A>C)
c.*643A>C (n.*643A>C)
c.448A>C (p.Ser150Arg)
n.2383A>C
Xg.153592686G>ACA519214479CCNQc.477C>T (p.His159=)
c.193+1861C>T
c.351C>T (p.His117=)
c.277+3318C>T
c.298C>T
c.*353C>T (n.*353C>T)
c.*642C>T (n.*642C>T)
c.447C>T (p.His149=)
n.2382C>T
 dbSNP gnomAD v4
Xg.153592686G>CCA415088279CCNQc.477C>G (p.His159Gln)
c.193+1861C>G
c.351C>G (p.His117Gln)
c.277+3318C>G
c.298C>G
c.*353C>G (n.*353C>G)
c.*642C>G (n.*642C>G)
c.447C>G (p.His149Gln)
n.2382C>G
Xg.153592686G=CA2466399779CCNQc.477C= (p.His159=)
c.193+1861C=
c.351C= (p.His117=)
c.277+3318C=
c.298C=
c.*353C= (n.*353C=)
c.*642C= (n.*642C=)
c.447C= (p.His149=)
n.2382C=
Xg.153592686G>TCA415088281CCNQc.477C>A (p.His159Gln)
c.193+1861C>A
c.351C>A (p.His117Gln)
c.277+3318C>A
c.298C>A
c.*353C>A (n.*353C>A)
c.*642C>A (n.*642C>A)
c.447C>A (p.His149Gln)
n.2382C>A
Xg.153592687T>ACA415088285CCNQc.476A>T (p.His159Leu)
c.193+1860A>T
c.350A>T (p.His117Leu)
c.277+3317A>T
c.297A>T
c.*352A>T (n.*352A>T)
c.*641A>T (n.*641A>T)
c.446A>T (p.His149Leu)
n.2381A>T
Xg.153592687T>CCA415088288CCNQc.476A>G (p.His159Arg)
c.193+1860A>G
c.350A>G (p.His117Arg)
c.277+3317A>G
c.297A>G
c.*352A>G (n.*352A>G)
c.*641A>G (n.*641A>G)
c.446A>G (p.His149Arg)
n.2381A>G
 gnomAD v4
Xg.153592687T>GCA415088291CCNQc.476A>C (p.His159Pro)
c.193+1860A>C
c.350A>C (p.His117Pro)
c.277+3317A>C
c.297A>C
c.*352A>C (n.*352A>C)
c.*641A>C (n.*641A>C)
c.446A>C (p.His149Pro)
n.2381A>C

Number of alleles fetched