Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.42148239C>ACA367550193GLI3c.354G>T (p.Met118Ile)
c.177G>T (p.Met59Ile)
n.331G>T
c.351G>T (p.Met117Ile)
7g.42148239C>GCA367550194GLI3c.354G>C (p.Met118Ile)
c.177G>C (p.Met59Ile)
n.331G>C
c.351G>C (p.Met117Ile)
7g.42148239C>TCA367550195GLI3c.354G>A (p.Met118Ile)
c.177G>A (p.Met59Ile)
n.331G>A
c.351G>A (p.Met117Ile)
 gnomAD v4
7g.42148240A=CA1702731839GLI3c.353T= (p.Met118=)
c.176T= (p.Met59=)
n.330T=
c.350T= (p.Met117=)
7g.42148240A>CCA367550196GLI3c.353T>G (p.Met118Arg)
c.176T>G (p.Met59Arg)
n.330T>G
c.350T>G (p.Met117Arg)
 gnomAD v4
7g.42148240A>GCA10629210GLI3c.353T>C (p.Met118Thr)
c.176T>C (p.Met59Thr)
n.330T>C
c.350T>C (p.Met117Thr)
 ClinVar dbSNP gnomAD v4
7g.42148240A>TCA367550197GLI3c.353T>A (p.Met118Lys)
c.176T>A (p.Met59Lys)
n.330T>A
c.350T>A (p.Met117Lys)
7g.42148241T>ACA367550198GLI3c.352A>T (p.Met118Leu)
c.175A>T (p.Met59Leu)
n.329A>T
c.349A>T (p.Met117Leu)
 dbSNP
7g.42148241T>CCA157278280GLI3c.352A>G (p.Met118Val)
c.175A>G (p.Met59Val)
n.329A>G
c.349A>G (p.Met117Val)
 dbSNP gnomAD v4
7g.42148241T>GCA367550199GLI3c.352A>C (p.Met118Leu)
c.175A>C (p.Met59Leu)
n.329A>C
c.349A>C (p.Met117Leu)
7g.42148241T=CA1702731844GLI3c.352A= (p.Met118=)
c.175A= (p.Met59=)
n.329A=
c.349A= (p.Met117=)
7g.42148242G>ACA454866769GLI3c.351C>T (p.Tyr117=)
c.174C>T (p.Tyr58=)
n.328C>T
c.348C>T (p.Tyr116=)
7g.42148242G>CCA367550201GLI3c.351C>G (p.Tyr117Ter)
c.174C>G (p.Tyr58Ter)
n.328C>G
c.348C>G (p.Tyr116Ter)
7g.42148242G>TCA367550200GLI3c.351C>A (p.Tyr117Ter)
c.174C>A (p.Tyr58Ter)
n.328C>A
c.348C>A (p.Tyr116Ter)
7g.42148243T>ACA367550202GLI3c.350A>T (p.Tyr117Phe)
c.173A>T (p.Tyr58Phe)
n.327A>T
c.347A>T (p.Tyr116Phe)
7g.42148243T>CCA367550203GLI3c.350A>G (p.Tyr117Cys)
c.173A>G (p.Tyr58Cys)
n.327A>G
c.347A>G (p.Tyr116Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.42148243T>GCA367550204GLI3c.350A>C (p.Tyr117Ser)
c.173A>C (p.Tyr58Ser)
n.327A>C
c.347A>C (p.Tyr116Ser)
7g.42148243T=CA1702731846GLI3c.350A= (p.Tyr117=)
c.173A= (p.Tyr58=)
n.327A=
c.347A= (p.Tyr116=)
7g.42148244A>CCA367550205GLI3c.349T>G (p.Tyr117Asp)
c.172T>G (p.Tyr58Asp)
n.326T>G
c.346T>G (p.Tyr116Asp)
7g.42148244A>GCA367550206GLI3c.349T>C (p.Tyr117His)
c.172T>C (p.Tyr58His)
n.326T>C
c.346T>C (p.Tyr116His)
7g.42148244A>TCA367550207GLI3c.349T>A (p.Tyr117Asn)
c.172T>A (p.Tyr58Asn)
n.326T>A
c.346T>A (p.Tyr116Asn)
7g.42148245A>CCA454866774GLI3c.348T>G (p.Gly116=)
c.171T>G (p.Gly57=)
n.325T>G
c.345T>G (p.Gly115=)
7g.42148245A>GCA454866775GLI3c.348T>C (p.Gly116=)
c.171T>C (p.Gly57=)
n.325T>C
c.345T>C (p.Gly115=)
7g.42148245A>TCA454866777GLI3c.348T>A (p.Gly116=)
c.171T>A (p.Gly57=)
n.325T>A
c.345T>A (p.Gly115=)
7g.42148246C>ACA367550208GLI3c.347G>T (p.Gly116Val)
c.170G>T (p.Gly57Val)
n.324G>T
c.344G>T (p.Gly115Val)
7g.42148246C>GCA367550209GLI3c.347G>C (p.Gly116Ala)
c.170G>C (p.Gly57Ala)
n.324G>C
c.344G>C (p.Gly115Ala)
 COSMIC
7g.42148246C>TCA367550210GLI3c.347G>A (p.Gly116Asp)
c.170G>A (p.Gly57Asp)
n.324G>A
c.344G>A (p.Gly115Asp)
7g.42148247C>ACA367550211GLI3c.346G>T (p.Gly116Cys)
c.169G>T (p.Gly57Cys)
n.323G>T
c.343G>T (p.Gly115Cys)
7g.42148247C>GCA367550212GLI3c.346G>C (p.Gly116Arg)
c.169G>C (p.Gly57Arg)
n.323G>C
c.343G>C (p.Gly115Arg)
7g.42148247C>TCA367550213GLI3c.346G>A (p.Gly116Ser)
c.169G>A (p.Gly57Ser)
n.323G>A
c.343G>A (p.Gly115Ser)
7g.42148248A>CCA367550215GLI3c.345T>G (p.Asn115Lys)
c.168T>G (p.Asn56Lys)
n.322T>G
c.342T>G (p.Asn114Lys)
 gnomAD v4
7g.42148248A>GCA454866780GLI3c.345T>C (p.Asn115=)
c.168T>C (p.Asn56=)
n.322T>C
c.342T>C (p.Asn114=)
 gnomAD v4
7g.42148248A>TCA367550214GLI3c.345T>A (p.Asn115Lys)
c.168T>A (p.Asn56Lys)
n.322T>A
c.342T>A (p.Asn114Lys)
7g.42148249T>ACA367550216GLI3c.344A>T (p.Asn115Ile)
c.167A>T (p.Asn56Ile)
n.321A>T
c.341A>T (p.Asn114Ile)
7g.42148249T>CCA367550217GLI3c.344A>G (p.Asn115Ser)
c.167A>G (p.Asn56Ser)
n.321A>G
c.341A>G (p.Asn114Ser)
7g.42148249T>GCA367550218GLI3c.344A>C (p.Asn115Thr)
c.167A>C (p.Asn56Thr)
n.321A>C
c.341A>C (p.Asn114Thr)
7g.42148250T>ACA367550219GLI3c.343A>T (p.Asn115Tyr)
c.166A>T (p.Asn56Tyr)
n.320A>T
c.340A>T (p.Asn114Tyr)
7g.42148250T>CCA367550220GLI3c.343A>G (p.Asn115Asp)
c.166A>G (p.Asn56Asp)
n.320A>G
c.340A>G (p.Asn114Asp)
7g.42148250T>GCA367550221GLI3c.343A>C (p.Asn115His)
c.166A>C (p.Asn56His)
n.320A>C
c.340A>C (p.Asn114His)
 dbSNP gnomAD v3 gnomAD v4
7g.42148250T=CA1702731850GLI3c.343A= (p.Asn115=)
c.166A= (p.Asn56=)
n.320A=
c.340A= (p.Asn114=)
7g.42148251C>ACA367550222GLI3c.342G>T (p.Arg114Ser)
c.165G>T (p.Arg55Ser)
n.319G>T
c.339G>T (p.Arg113Ser)
7g.42148251C>GCA367550223GLI3c.342G>C (p.Arg114Ser)
c.165G>C (p.Arg55Ser)
n.319G>C
c.339G>C (p.Arg113Ser)
7g.42148251C>TCA454866791GLI3c.342G>A (p.Arg114=)
c.165G>A (p.Arg55=)
n.319G>A
c.339G>A (p.Arg113=)
 gnomAD v4
7g.42148252C>ACA367550224GLI3c.341G>T (p.Arg114Met)
c.164G>T (p.Arg55Met)
n.318G>T
c.338G>T (p.Arg113Met)
7g.42148252C=CA1702731856GLI3c.341G= (p.Arg114=)
c.164G= (p.Arg55=)
n.318G=
c.338G= (p.Arg113=)
7g.42148252C>GCA367550225GLI3c.341G>C (p.Arg114Thr)
c.164G>C (p.Arg55Thr)
n.318G>C
c.338G>C (p.Arg113Thr)
7g.42148252C>TCA4231240GLI3c.341G>A (p.Arg114Lys)
c.164G>A (p.Arg55Lys)
n.318G>A
c.338G>A (p.Arg113Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.42148253T>ACA367550226GLI3c.340A>T (p.Arg114Trp)
c.163A>T (p.Arg55Trp)
n.317A>T
c.337A>T (p.Arg113Trp)
7g.42148253T>CCA4231241GLI3c.340A>G (p.Arg114Gly)
c.163A>G (p.Arg55Gly)
n.317A>G
c.337A>G (p.Arg113Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.42148253T>GCA454866795GLI3c.340A>C (p.Arg114=)
c.163A>C (p.Arg55=)
n.317A>C
c.337A>C (p.Arg113=)

Number of alleles fetched