Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.22033072delCA10605687PHEXn.493del
c.67del (p.Leu23TrpfsTer9)
n.746del
 ClinVar dbSNP
Xg.22033071_22033079delinsCCTGGTCGTCA2419147558PHEXn.492_500delinsCCTGGTCGT
c.66_74delinsCCTGGTCGT (p.Ala22=)
n.745_753delinsCCTGGTCGT
Xg.22033072C>ACA412564121PHEXn.493C>A
c.67C>A (p.Leu23Met)
n.746C>A
Xg.22033072C>GCA412564124PHEXn.493C>G
c.67C>G (p.Leu23Val)
n.746C>G
Xg.22033072C>TCA515423850PHEXn.493C>T
c.67C>T (p.Leu23=)
n.746C>T
Xg.22033072_22033073delinsCTCA2419147559PHEXn.493_494delinsCT
c.67_68delinsCT (p.Leu23=)
n.746_747delinsCT
Xg.22033072_22033079delCA1139667273PHEXn.493_500del
c.67_74del (p.Leu23ValfsTer25)
n.746_753del
 ClinVar dbSNP
Xg.22033073delCA916083866PHEXn.494del
c.68del (p.Leu23ArgfsTer9)
n.747del
 ClinVar dbSNP
Xg.22033073T>ACA412564128PHEXn.494T>A
c.68T>A (p.Leu23Gln)
n.747T>A
Xg.22033073T>CCA412564131PHEXn.494T>C
c.68T>C (p.Leu23Pro)
n.747T>C
 COSMIC
Xg.22033073T>GCA412564135PHEXn.494T>G
c.68T>G (p.Leu23Arg)
n.747T>G
Xg.22033074G>ACA515423851PHEXn.495G>A
c.69G>A (p.Leu23=)
n.748G>A
Xg.22033074G>CCA515423852PHEXn.495G>C
c.69G>C (p.Leu23=)
n.748G>C
Xg.22033074G>TCA515423853PHEXn.495G>T
c.69G>T (p.Leu23=)
n.748G>T
Xg.22033075G>ACA412564138PHEXn.496G>A
c.70G>A (p.Val24Ile)
n.749G>A
 gnomAD v4
Xg.22033075G>CCA412564143PHEXn.496G>C
c.70G>C (p.Val24Leu)
n.749G>C
Xg.22033075G>TCA412564140PHEXn.496G>T
c.70G>T (p.Val24Phe)
n.749G>T
Xg.22033076T>ACA412564146PHEXn.497T>A
c.71T>A (p.Val24Asp)
n.750T>A
Xg.22033076T>CCA412564148PHEXn.497T>C
c.71T>C (p.Val24Ala)
n.750T>C
Xg.22033076T>GCA412564152PHEXn.497T>G
c.71T>G (p.Val24Gly)
n.750T>G
Xg.22033077C>ACA515423854PHEXn.498C>A
c.72C>A (p.Val24=)
n.751C>A
 COSMIC
Xg.22033077C=CA2419147560PHEXn.498C=
c.72C= (p.Val24=)
n.751C=
Xg.22033077C>GCA515423855PHEXn.498C>G
c.72C>G (p.Val24=)
n.751C>G
Xg.22033077C>TCA515423856PHEXn.498C>T
c.72C>T (p.Val24=)
n.751C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.22033078G>ACA10367957PHEXn.499G>A
c.73G>A (p.Val25Met)
n.752G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.22033078G>CCA412564156PHEXn.499G>C
c.73G>C (p.Val25Leu)
n.752G>C
Xg.22033078G=CA2419147561PHEXn.499G=
c.73G= (p.Val25=)
n.752G=
Xg.22033078G>TCA412564157PHEXn.499G>T
c.73G>T (p.Val25Leu)
n.752G>T
 dbSNP
Xg.22033079T>ACA412564161PHEXn.500T>A
c.74T>A (p.Val25Glu)
n.753T>A
Xg.22033079T>CCA412564164PHEXn.500T>C
c.74T>C (p.Val25Ala)
n.753T>C
 gnomAD v4
Xg.22033079T>GCA412564166PHEXn.500T>G
c.74T>G (p.Val25Gly)
n.753T>G
Xg.22033080G>ACA515423857PHEXn.501G>A
c.75G>A (p.Val25=)
n.754G>A
Xg.22033080G>CCA515423858PHEXn.501G>C
c.75G>C (p.Val25=)
n.754G>C
Xg.22033080G=CA2419147562PHEXn.501G=
c.75G= (p.Val25=)
n.754G=
Xg.22033080G>TCA515423859PHEXn.501G>T
c.75G>T (p.Val25=)
n.754G>T
Xg.22033081T>ACA412564169PHEXn.502T>A
c.76T>A (p.Phe26Ile)
n.755T>A
Xg.22033081T>CCA412564170PHEXn.502T>C
c.76T>C (p.Phe26Leu)
n.755T>C
 dbSNP
Xg.22033081T>GCA412564172PHEXn.502T>G
c.76T>G (p.Phe26Val)
n.755T>G
Xg.22033081T=CA2419147563PHEXn.502T=
c.76T= (p.Phe26=)
n.755T=
Xg.22033083dupCA645509368PHEXn.504dup
c.78dup (p.Val27CysfsTer24)
n.757dup
 ClinVar dbSNP
Xg.22033082_22033083delCA2695232260PHEXn.503_504del
c.77_78del (p.Phe26CysfsTer24)
n.756_757del
Xg.22033082T>ACA412564179PHEXn.503T>A
c.77T>A (p.Phe26Tyr)
n.756T>A
Xg.22033082T>CCA412564177PHEXn.503T>C
c.77T>C (p.Phe26Ser)
n.756T>C
Xg.22033082T>GCA412564174PHEXn.503T>G
c.77T>G (p.Phe26Cys)
n.756T>G
Xg.22033083T>ACA412564181PHEXn.504T>A
c.78T>A (p.Phe26Leu)
n.757T>A
Xg.22033083T>CCA515423860PHEXn.504T>C
c.78T>C (p.Phe26=)
n.757T>C
Xg.22033083T>GCA10367958PHEXn.504T>G
c.78T>G (p.Phe26Leu)
n.757T>G
 dbSNP ExAC gnomAD v2
Xg.22033083T=CA2419147564PHEXn.504T=
c.78T= (p.Phe26=)
n.757T=
Xg.22033084G>ACA412564189PHEXn.505G>A
c.79G>A (p.Val27Ile)
n.758G>A
Xg.22033084G>CCA412564192PHEXn.505G>C
c.79G>C (p.Val27Leu)
n.758G>C

Number of alleles fetched