Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.165419892G>ACA1220195RXRGc.420C>T (p.Ala140=)
n.345C>T
c.51C>T (p.Ala17=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.165419892G>CCA421567592RXRGc.420C>G (p.Ala140=)
n.345C>G
c.51C>G (p.Ala17=)
1g.165419892G=CA1139853394RXRGc.420C= (p.Ala140=)
n.345C=
c.51C= (p.Ala17=)
1g.165419892G>TCA421567593RXRGc.420C>A (p.Ala140=)
n.345C>A
c.51C>A (p.Ala17=)
gnomAD v4
1g.165419893G>ACA343472840RXRGc.419C>T (p.Ala140Val)
n.344C>T
c.50C>T (p.Ala17Val)
gnomAD v4
1g.165419893G>CCA343472839RXRGc.419C>G (p.Ala140Gly)
n.344C>G
c.50C>G (p.Ala17Gly)
1g.165419893G>TCA343472838RXRGc.419C>A (p.Ala140Asp)
n.344C>A
c.50C>A (p.Ala17Asp)
1g.165419893_165419894delCA2648887621RXRGc.418_419del (p.Ala140HisfsTer17)
n.343_344del
c.49_50del (p.Ala17HisfsTer17)
gnomAD v4
1g.165419894C>ACA343472841RXRGc.418G>T (p.Ala140Ser)
n.343G>T
c.49G>T (p.Ala17Ser)
gnomAD v4
1g.165419894C=CA1204410121RXRGc.418G= (p.Ala140=)
n.343G=
c.49G= (p.Ala17=)
1g.165419894C>GCA343472842RXRGc.418G>C (p.Ala140Pro)
n.343G>C
c.49G>C (p.Ala17Pro)
1g.165419894C>TCA1220196RXRGc.418G>A (p.Ala140Thr)
n.343G>A
c.49G>A (p.Ala17Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.165419895A>CCA343472843RXRGc.417T>G (p.Cys139Trp)
n.342T>G
c.48T>G (p.Cys16Trp)
1g.165419895A>GCA421567594RXRGc.417T>C (p.Cys139=)
n.342T>C
c.48T>C (p.Cys16=)
1g.165419895A>TCA343472844RXRGc.417T>A (p.Cys139Ter)
n.342T>A
c.48T>A (p.Cys16Ter)
1g.165419896C>ACA343472845RXRGc.416G>T (p.Cys139Phe)
n.341G>T
c.47G>T (p.Cys16Phe)
1g.165419896C>GCA343472846RXRGc.416G>C (p.Cys139Ser)
n.341G>C
c.47G>C (p.Cys16Ser)
1g.165419896C>TCA343472847RXRGc.416G>A (p.Cys139Tyr)
n.341G>A
c.47G>A (p.Cys16Tyr)
1g.165419897A>CCA343472848RXRGc.415T>G (p.Cys139Gly)
n.340T>G
c.46T>G (p.Cys16Gly)
1g.165419897A>GCA343472849RXRGc.415T>C (p.Cys139Arg)
n.340T>C
c.46T>C (p.Cys16Arg)
1g.165419897A>TCA343472850RXRGc.415T>A (p.Cys139Ser)
n.340T>A
c.46T>A (p.Cys16Ser)
1g.165419898G>ACA421567596RXRGc.414C>T (p.Ile138=)
n.339C>T
c.45C>T (p.Ile15=)
1g.165419898G>CCA343472851RXRGc.414C>G (p.Ile138Met)
n.339C>G
c.45C>G (p.Ile15Met)
1g.165419898G>TCA421567595RXRGc.414C>A (p.Ile138=)
n.339C>A
c.45C>A (p.Ile15=)
1g.165419899A=CA1204410122RXRGc.413T= (p.Ile138=)
n.338T=
c.44T= (p.Ile15=)
1g.165419899A>CCA343472853RXRGc.413T>G (p.Ile138Ser)
n.338T>G
c.44T>G (p.Ile15Ser)
1g.165419899A>GCA343472854RXRGc.413T>C (p.Ile138Thr)
n.338T>C
c.44T>C (p.Ile15Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419899A>TCA343472852RXRGc.413T>A (p.Ile138Asn)
n.338T>A
c.44T>A (p.Ile15Asn)
gnomAD v4
1g.165419900T>ACA343472857RXRGc.412A>T (p.Ile138Phe)
n.337A>T
c.43A>T (p.Ile15Phe)
gnomAD v4
1g.165419900T>CCA343472855RXRGc.412A>G (p.Ile138Val)
n.337A>G
c.43A>G (p.Ile15Val)
1g.165419900T>GCA343472856RXRGc.412A>C (p.Ile138Leu)
n.337A>C
c.43A>C (p.Ile15Leu)
1g.165419901G>ACA421567597RXRGc.411C>T (p.His137=)
n.336C>T
c.42C>T (p.His14=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.165419901G>CCA343472858RXRGc.411C>G (p.His137Gln)
n.336C>G
c.42C>G (p.His14Gln)
1g.165419901G=CA1204410123RXRGc.411C= (p.His137=)
n.336C=
c.42C= (p.His14=)
1g.165419901G>TCA343472859RXRGc.411C>A (p.His137Gln)
n.336C>A
c.42C>A (p.His14Gln)
1g.165419902T>ACA343472860RXRGc.410A>T (p.His137Leu)
n.335A>T
c.41A>T (p.His14Leu)
1g.165419902T>CCA343472861RXRGc.410A>G (p.His137Arg)
n.335A>G
c.41A>G (p.His14Arg)
1g.165419902T>GCA32221226RXRGc.410A>C (p.His137Pro)
n.335A>C
c.41A>C (p.His14Pro)
dbSNP
1g.165419902T=CA1204410124RXRGc.410A= (p.His137=)
n.335A=
c.41A= (p.His14=)
1g.165419903G>ACA343472862RXRGc.409C>T (p.His137Tyr)
n.334C>T
c.40C>T (p.His14Tyr)
1g.165419903G>CCA343472863RXRGc.409C>G (p.His137Asp)
n.334C>G
c.40C>G (p.His14Asp)
1g.165419903G>TCA343472864RXRGc.409C>A (p.His137Asn)
n.334C>A
c.40C>A (p.His14Asn)
1g.165419904T>ACA343472865RXRGc.408A>T (p.Lys136Asn)
n.333A>T
c.39A>T (p.Lys13Asn)
COSMIC
1g.165419904T>CCA421567598RXRGc.408A>G (p.Lys136=)
n.333A>G
c.39A>G (p.Lys13=)
1g.165419904T>GCA343472866RXRGc.408A>C (p.Lys136Asn)
n.333A>C
c.39A>C (p.Lys13Asn)
1g.165419905T>ACA343472868RXRGc.407A>T (p.Lys136Ile)
n.332A>T
c.38A>T (p.Lys13Ile)
1g.165419905T>CCA343472869RXRGc.407A>G (p.Lys136Arg)
n.332A>G
c.38A>G (p.Lys13Arg)
gnomAD v4
1g.165419905T>GCA343472867RXRGc.407A>C (p.Lys136Thr)
n.332A>C
c.38A>C (p.Lys13Thr)
1g.165419906T>ACA343472870RXRGc.406A>T (p.Lys136Ter)
n.331A>T
c.37A>T (p.Lys13Ter)
1g.165419906T>CCA343472871RXRGc.406A>G (p.Lys136Glu)
n.331A>G
c.37A>G (p.Lys13Glu)

Number of alleles fetched