Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.81752159C>ACA367874780HGFc.586G>T (p.Val196Leu)
c.571G>T (p.Val191Leu)
n.599G>T
7g.81752159C>GCA367874781HGFc.586G>C (p.Val196Leu)
c.571G>C (p.Val191Leu)
n.599G>C
 dbSNP
7g.81752159C>TCA367874782HGFc.586G>A (p.Val196Ile)
c.571G>A (p.Val191Ile)
n.599G>A
 dbSNP
7g.81752160C>ACA367874783HGFc.585G>T (p.Glu195Asp)
c.570G>T (p.Glu190Asp)
n.598G>T
 dbSNP
7g.81752160C>GCA367874784HGFc.585G>C (p.Glu195Asp)
c.570G>C (p.Glu190Asp)
n.598G>C
 dbSNP
7g.81752160C>TCA456129443HGFc.585G>A (p.Glu195=)
c.570G>A (p.Glu190=)
n.598G>A
 dbSNP COSMIC
7g.81752161T>ACA367874786HGFc.584A>T (p.Glu195Val)
c.569A>T (p.Glu190Val)
n.597A>T
 dbSNP
7g.81752161T>CCA367874787HGFc.584A>G (p.Glu195Gly)
c.569A>G (p.Glu190Gly)
n.597A>G
7g.81752161T>GCA367874785HGFc.584A>C (p.Glu195Ala)
c.569A>C (p.Glu190Ala)
n.597A>C
7g.81752162C>ACA367874788HGFc.583G>T (p.Glu195Ter)
c.568G>T (p.Glu190Ter)
n.596G>T
7g.81752162C>GCA367874789HGFc.583G>C (p.Glu195Gln)
c.568G>C (p.Glu190Gln)
n.596G>C
 dbSNP
7g.81752162C>TCA367874790HGFc.583G>A (p.Glu195Lys)
c.568G>A (p.Glu190Lys)
n.596G>A
 dbSNP
7g.81752163T>ACA456129446HGFc.582A>T (p.Pro194=)
c.567A>T (p.Pro189=)
n.595A>T
7g.81752163T>CCA456129444HGFc.582A>G (p.Pro194=)
c.567A>G (p.Pro189=)
n.595A>G
7g.81752163T>GCA456129445HGFc.582A>C (p.Pro194=)
c.567A>C (p.Pro189=)
n.595A>C
7g.81752164G>ACA367874791HGFc.581C>T (p.Pro194Leu)
c.566C>T (p.Pro189Leu)
n.594C>T
 dbSNP gnomAD v2 gnomAD v4
7g.81752164G>CCA367874792HGFc.581C>G (p.Pro194Arg)
c.566C>G (p.Pro189Arg)
n.594C>G
 dbSNP
7g.81752164G=CA1720885404HGFc.581C= (p.Pro194=)
c.566C= (p.Pro189=)
n.594C=
7g.81752164G>TCA367874793HGFc.581C>A (p.Pro194Gln)
c.566C>A (p.Pro189Gln)
n.594C>A
7g.81752165delCA2715136751HGFc.581del (p.Pro194GlnfsTer19)
c.581del (p.Pro194GlnfsTer?)
c.566del (p.Pro189GlnfsTer19)
c.566del (p.Pro189GlnfsTer?)
n.594del
 dbSNP
7g.81752165G>ACA367874795HGFc.580C>T (p.Pro194Ser)
c.565C>T (p.Pro189Ser)
n.593C>T
 dbSNP COSMIC
7g.81752165G>CCA4317169HGFc.580C>G (p.Pro194Ala)
c.565C>G (p.Pro189Ala)
n.593C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81752165G=CA1720885405HGFc.580C= (p.Pro194=)
c.565C= (p.Pro189=)
n.593C=
7g.81752165G>TCA367874794HGFc.580C>A (p.Pro194Thr)
c.565C>A (p.Pro189Thr)
n.593C>A
 dbSNP
7g.81752166A=CA1720885406HGFc.579T= (p.Asn193=)
c.564T= (p.Asn188=)
n.592T=
7g.81752166A>CCA367874796HGFc.579T>G (p.Asn193Lys)
c.564T>G (p.Asn188Lys)
n.592T>G
7g.81752166A>GCA456129447HGFc.579T>C (p.Asn193=)
c.564T>C (p.Asn188=)
n.592T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.81752166A>TCA367874797HGFc.579T>A (p.Asn193Lys)
c.564T>A (p.Asn188Lys)
n.592T>A
7g.81752167T>ACA367874798HGFc.578A>T (p.Asn193Ile)
c.563A>T (p.Asn188Ile)
n.591A>T
 dbSNP
7g.81752167T>CCA4317170HGFc.578A>G (p.Asn193Ser)
c.563A>G (p.Asn188Ser)
n.591A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81752167T>GCA367874799HGFc.578A>C (p.Asn193Thr)
c.563A>C (p.Asn188Thr)
n.591A>C
 dbSNP
7g.81752167T=CA1720885407HGFc.578A= (p.Asn193=)
c.563A= (p.Asn188=)
n.591A=
7g.81752168T>ACA367874800HGFc.577A>T (p.Asn193Tyr)
c.562A>T (p.Asn188Tyr)
n.590A>T
7g.81752168T>CCA367874802HGFc.577A>G (p.Asn193Asp)
c.562A>G (p.Asn188Asp)
n.590A>G
7g.81752168T>GCA367874801HGFc.577A>C (p.Asn193His)
c.562A>C (p.Asn188His)
n.590A>C
7g.81752169G>ACA456129448HGFc.576C>T (p.Ser192=)
c.561C>T (p.Ser187=)
n.589C>T
 dbSNP gnomAD v3 gnomAD v4
7g.81752169G>CCA367874803HGFc.576C>G (p.Ser192Arg)
c.561C>G (p.Ser187Arg)
n.589C>G
 dbSNP gnomAD v4
7g.81752169G=CA1720885408HGFc.576C= (p.Ser192=)
c.561C= (p.Ser187=)
n.589C=
7g.81752169G>TCA367874804HGFc.576C>A (p.Ser192Arg)
c.561C>A (p.Ser187Arg)
n.589C>A
 dbSNP gnomAD v2
7g.81752170C>ACA367874805HGFc.575G>T (p.Ser192Ile)
c.560G>T (p.Ser187Ile)
n.588G>T
 dbSNP
7g.81752170C=CA1720885409HGFc.575G= (p.Ser192=)
c.560G= (p.Ser187=)
n.588G=
7g.81752170C>GCA367874806HGFc.575G>C (p.Ser192Thr)
c.560G>C (p.Ser187Thr)
n.588G>C
 dbSNP
7g.81752170C>TCA161098513HGFc.575G>A (p.Ser192Asn)
c.560G>A (p.Ser187Asn)
n.588G>A
 dbSNP gnomAD v4
7g.81752171T>ACA367874807HGFc.574A>T (p.Ser192Cys)
c.559A>T (p.Ser187Cys)
n.587A>T
7g.81752171T>CCA367874808HGFc.574A>G (p.Ser192Gly)
c.559A>G (p.Ser187Gly)
n.587A>G
7g.81752171T>GCA367874809HGFc.574A>C (p.Ser192Arg)
c.559A>C (p.Ser187Arg)
n.587A>C
7g.81752172T>ACA456129449HGFc.573A>T (p.Thr191=)
c.558A>T (p.Thr186=)
n.586A>T
7g.81752172T>CCA456129450HGFc.573A>G (p.Thr191=)
c.558A>G (p.Thr186=)
n.586A>G
7g.81752172T>GCA456129451HGFc.573A>C (p.Thr191=)
c.558A>C (p.Thr186=)
n.586A>C
7g.81752173G>ACA367874810HGFc.572C>T (p.Thr191Ile)
c.557C>T (p.Thr186Ile)
n.585C>T
 dbSNP
7g.81752173G>CCA367874811HGFc.572C>G (p.Thr191Arg)
c.557C>G (p.Thr186Arg)
n.585C>G
 dbSNP
7g.81752173G>TCA367874812HGFc.572C>A (p.Thr191Lys)
c.557C>A (p.Thr186Lys)
n.585C>A
7g.81752174T>ACA367874813HGFc.571A>T (p.Thr191Ser)
c.556A>T (p.Thr186Ser)
n.584A>T
 dbSNP
7g.81752174T>CCA367874815HGFc.571A>G (p.Thr191Ala)
c.556A>G (p.Thr186Ala)
n.584A>G
 dbSNP
7g.81752174T>GCA367874814HGFc.571A>C (p.Thr191Pro)
c.556A>C (p.Thr186Pro)
n.584A>C
7g.81752175G>ACA161098515HGFc.570C>T (p.Phe190=)
c.555C>T (p.Phe185=)
n.583C>T
 dbSNP
7g.81752175G>CCA367874816HGFc.570C>G (p.Phe190Leu)
c.555C>G (p.Phe185Leu)
n.583C>G
 dbSNP
7g.81752175G=CA1720885410HGFc.570C= (p.Phe190=)
c.555C= (p.Phe185=)
n.583C=
7g.81752175G>TCA367874817HGFc.570C>A (p.Phe190Leu)
c.555C>A (p.Phe185Leu)
n.583C>A
 gnomAD v4
7g.81752176A>CCA367874818HGFc.569T>G (p.Phe190Cys)
c.554T>G (p.Phe185Cys)
n.582T>G
7g.81752176A>GCA367874819HGFc.569T>C (p.Phe190Ser)
c.554T>C (p.Phe185Ser)
n.582T>C
7g.81752176A>TCA367874820HGFc.569T>A (p.Phe190Tyr)
c.554T>A (p.Phe185Tyr)
n.582T>A
 dbSNP
7g.81752177A>CCA367874821HGFc.568T>G (p.Phe190Val)
c.553T>G (p.Phe185Val)
n.581T>G
 dbSNP
7g.81752177A>GCA367874822HGFc.568T>C (p.Phe190Leu)
c.553T>C (p.Phe185Leu)
n.581T>C
 dbSNP
7g.81752177A>TCA367874823HGFc.568T>A (p.Phe190Ile)
c.553T>A (p.Phe185Ile)
n.581T>A
 dbSNP
7g.81752178A>CCA367874824HGFc.567T>G (p.Cys189Trp)
c.552T>G (p.Cys184Trp)
n.580T>G
7g.81752178A>GCA456129452HGFc.567T>C (p.Cys189=)
c.552T>C (p.Cys184=)
n.580T>C
7g.81752178A>TCA367874825HGFc.567T>A (p.Cys189Ter)
c.552T>A (p.Cys184Ter)
n.580T>A
7g.81752179C>ACA367874826HGFc.566G>T (p.Cys189Phe)
c.551G>T (p.Cys184Phe)
n.579G>T
7g.81752179C>GCA367874827HGFc.566G>C (p.Cys189Ser)
c.551G>C (p.Cys184Ser)
n.579G>C
 dbSNP
7g.81752179C>TCA367874828HGFc.566G>A (p.Cys189Tyr)
c.551G>A (p.Cys184Tyr)
n.579G>A
 dbSNP
7g.81752180A>CCA367874831HGFc.565T>G (p.Cys189Gly)
c.550T>G (p.Cys184Gly)
n.578T>G
 dbSNP
7g.81752180A>GCA367874830HGFc.565T>C (p.Cys189Arg)
c.550T>C (p.Cys184Arg)
n.578T>C
7g.81752180A>TCA367874829HGFc.565T>A (p.Cys189Ser)
c.550T>A (p.Cys184Ser)
n.578T>A
 dbSNP
7g.81752181C>ACA367874832HGFc.564G>T (p.Trp188Cys)
c.549G>T (p.Trp183Cys)
n.577G>T
7g.81752181C>GCA367874833HGFc.564G>C (p.Trp188Cys)
c.549G>C (p.Trp183Cys)
n.577G>C
 dbSNP
7g.81752181C>TCA367874834HGFc.564G>A (p.Trp188Ter)
c.549G>A (p.Trp183Ter)
n.577G>A
7g.81752182C>ACA367874835HGFc.563G>T (p.Trp188Leu)
c.548G>T (p.Trp183Leu)
n.576G>T
7g.81752182C>GCA367874836HGFc.563G>C (p.Trp188Ser)
c.548G>C (p.Trp183Ser)
n.576G>C
 dbSNP gnomAD v4
7g.81752182C>TCA367874837HGFc.563G>A (p.Trp188Ter)
c.548G>A (p.Trp183Ter)
n.576G>A
 dbSNP
7g.81752183A>CCA367874838HGFc.562T>G (p.Trp188Gly)
c.547T>G (p.Trp183Gly)
n.575T>G
7g.81752183A>GCA367874839HGFc.562T>C (p.Trp188Arg)
c.547T>C (p.Trp183Arg)
n.575T>C
 dbSNP
7g.81752183A>TCA367874840HGFc.562T>A (p.Trp188Arg)
c.547T>A (p.Trp183Arg)
n.575T>A
 dbSNP
7g.81752184G>ACA456129453HGFc.561C>T (p.Pro187=)
c.546C>T (p.Pro182=)
n.574C>T
 dbSNP gnomAD v4
7g.81752184G>CCA456129454HGFc.561C>G (p.Pro187=)
c.546C>G (p.Pro182=)
n.574C>G
 dbSNP gnomAD v4
7g.81752184G=CA1720885411HGFc.561C= (p.Pro187=)
c.546C= (p.Pro182=)
n.574C=
7g.81752184G>TCA456129455HGFc.561C>A (p.Pro187=)
c.546C>A (p.Pro182=)
n.574C>A
7g.81752185G>ACA367874841HGFc.560C>T (p.Pro187Leu)
c.545C>T (p.Pro182Leu)
n.573C>T
7g.81752185G>CCA367874842HGFc.560C>G (p.Pro187Arg)
c.545C>G (p.Pro182Arg)
n.573C>G
 dbSNP
7g.81752185G>TCA367874843HGFc.560C>A (p.Pro187His)
c.545C>A (p.Pro182His)
n.573C>A
 dbSNP
7g.81752186G>ACA367874845HGFc.559C>T (p.Pro187Ser)
c.544C>T (p.Pro182Ser)
n.572C>T
 dbSNP COSMIC
7g.81752186G>CCA367874846HGFc.559C>G (p.Pro187Ala)
c.544C>G (p.Pro182Ala)
n.572C>G
 dbSNP
7g.81752186G>TCA367874844HGFc.559C>A (p.Pro187Thr)
c.544C>A (p.Pro182Thr)
n.572C>A
7g.81752187T>ACA456129456HGFc.558A>T (p.Gly186=)
c.543A>T (p.Gly181=)
n.571A>T
7g.81752187T>CCA456129457HGFc.558A>G (p.Gly186=)
c.543A>G (p.Gly181=)
n.571A>G
7g.81752187T>GCA456129458HGFc.558A>C (p.Gly186=)
c.543A>C (p.Gly181=)
n.571A>C
7g.81752188C>ACA367874847HGFc.557G>T (p.Gly186Val)
c.542G>T (p.Gly181Val)
n.570G>T
7g.81752188C=CA1720885412HGFc.557G= (p.Gly186=)
c.542G= (p.Gly181=)
n.570G=
7g.81752188C>GCA367874848HGFc.557G>C (p.Gly186Ala)
c.542G>C (p.Gly181Ala)
n.570G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81752188C>TCA4317171HGFc.557G>A (p.Gly186Glu)
c.542G>A (p.Gly181Glu)
n.570G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81752192delCA2683532890HGFc.557del (p.Gly186AspfsTer27)
c.557del (p.Gly186AspfsTer?)
c.542del (p.Gly181AspfsTer27)
c.542del (p.Gly181AspfsTer?)
n.570del
 gnomAD v4
7g.81752189C>ACA367874849HGFc.556G>T (p.Gly186Ter)
c.541G>T (p.Gly181Ter)
n.569G>T
 dbSNP
7g.81752189C=CA1720885413HGFc.556G= (p.Gly186=)
c.541G= (p.Gly181=)
n.569G=
7g.81752189C>GCA367874850HGFc.556G>C (p.Gly186Arg)
c.541G>C (p.Gly181Arg)
n.569G>C
7g.81752189C>TCA4317172HGFc.556G>A (p.Gly186Arg)
c.541G>A (p.Gly181Arg)
n.569G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81752190C>ACA456129459HGFc.555G>T (p.Gly185=)
c.540G>T (p.Gly180=)
n.568G>T
 dbSNP gnomAD v4
7g.81752190C=CA1720885414HGFc.555G= (p.Gly185=)
c.540G= (p.Gly180=)
n.568G=
7g.81752190C>GCA456129460HGFc.555G>C (p.Gly185=)
c.540G>C (p.Gly180=)
n.568G>C
 dbSNP gnomAD v2 gnomAD v4
7g.81752190C>TCA456129461HGFc.555G>A (p.Gly185=)
c.540G>A (p.Gly180=)
n.568G>A
7g.81752191C>ACA367874853HGFc.554G>T (p.Gly185Val)
c.539G>T (p.Gly180Val)
n.567G>T
 dbSNP
7g.81752191C=CA1720885415HGFc.554G= (p.Gly185=)
c.539G= (p.Gly180=)
n.567G=
7g.81752191C>GCA367874851HGFc.554G>C (p.Gly185Ala)
c.539G>C (p.Gly180Ala)
n.567G>C
 dbSNP
7g.81752191C>TCA367874852HGFc.554G>A (p.Gly185Glu)
c.539G>A (p.Gly180Glu)
n.567G>A
 dbSNP
7g.81752191_81752194delinsCCTTCA1720885416HGFc.551_554delinsAAGG (p.Glu184=)
c.536_539delinsAAGG (p.Glu179=)
n.564_567delinsAAGG
7g.81752192C>ACA367874854HGFc.553G>T (p.Gly185Trp)
c.538G>T (p.Gly180Trp)
n.566G>T
7g.81752192C>GCA367874855HGFc.553G>C (p.Gly185Arg)
c.538G>C (p.Gly180Arg)
n.566G>C
 dbSNP
7g.81752192C>TCA367874856HGFc.553G>A (p.Gly185Arg)
c.538G>A (p.Gly180Arg)
n.566G>A
 gnomAD v4 COSMIC
7g.81752196_81752198delCA1720885417HGFc.551_553del (p.Glu184del)
c.536_538del (p.Glu179del)
n.564_566del
 dbSNP
7g.81752193T>ACA367874857HGFc.552A>T (p.Glu184Asp)
c.537A>T (p.Glu179Asp)
n.565A>T
7g.81752193T>CCA456129462HGFc.552A>G (p.Glu184=)
c.537A>G (p.Glu179=)
n.565A>G
 dbSNP
7g.81752193T>GCA367874858HGFc.552A>C (p.Glu184Asp)
c.537A>C (p.Glu179Asp)
n.565A>C
7g.81752194T>ACA367874859HGFc.551A>T (p.Glu184Val)
c.536A>T (p.Glu179Val)
n.564A>T
7g.81752194T>CCA367874861HGFc.551A>G (p.Glu184Gly)
c.536A>G (p.Glu179Gly)
n.564A>G
7g.81752194T>GCA367874860HGFc.551A>C (p.Glu184Ala)
c.536A>C (p.Glu179Ala)
n.564A>C
 COSMIC
7g.81752195C>ACA367874862HGFc.550G>T (p.Glu184Ter)
c.535G>T (p.Glu179Ter)
n.563G>T
7g.81752195C=CA1720885418HGFc.550G= (p.Glu184=)
c.535G= (p.Glu179=)
n.563G=
7g.81752195C>GCA367874863HGFc.550G>C (p.Glu184Gln)
c.535G>C (p.Glu179Gln)
n.563G>C
 dbSNP gnomAD v2 gnomAD v4
7g.81752195C>TCA367874864HGFc.550G>A (p.Glu184Lys)
c.535G>A (p.Glu179Lys)
n.563G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.81752196T>ACA367874865HGFc.549A>T (p.Glu183Asp)
c.534A>T (p.Glu178Asp)
n.562A>T
 dbSNP
7g.81752196T>CCA456129463HGFc.549A>G (p.Glu183=)
c.534A>G (p.Glu178=)
n.562A>G
 dbSNP
7g.81752196T>GCA367874866HGFc.549A>C (p.Glu183Asp)
c.534A>C (p.Glu178Asp)
n.562A>C
7g.81752197T>ACA367874867HGFc.548A>T (p.Glu183Val)
c.533A>T (p.Glu178Val)
n.561A>T
7g.81752197T>CCA367874868HGFc.548A>G (p.Glu183Gly)
c.533A>G (p.Glu178Gly)
n.561A>G
 dbSNP
7g.81752197T>GCA367874869HGFc.548A>C (p.Glu183Ala)
c.533A>C (p.Glu178Ala)
n.561A>C
7g.81752198C>ACA367874870HGFc.547G>T (p.Glu183Ter)
c.532G>T (p.Glu178Ter)
n.560G>T
7g.81752198C>GCA367874871HGFc.547G>C (p.Glu183Gln)
c.532G>C (p.Glu178Gln)
n.560G>C
7g.81752198C>TCA367874872HGFc.547G>A (p.Glu183Lys)
c.532G>A (p.Glu178Lys)
n.560G>A
 COSMIC
7g.81752199C>ACA456129466HGFc.546G>T (p.Gly182=)
c.531G>T (p.Gly177=)
n.559G>T
 dbSNP
7g.81752199C>GCA456129465HGFc.546G>C (p.Gly182=)
c.531G>C (p.Gly177=)
n.559G>C
 dbSNP gnomAD v4
7g.81752199C>TCA456129464HGFc.546G>A (p.Gly182=)
c.531G>A (p.Gly177=)
n.559G>A
 dbSNP COSMIC
7g.81752200C>ACA367874873HGFc.545G>T (p.Gly182Val)
c.530G>T (p.Gly177Val)
n.558G>T
 dbSNP
7g.81752200C>GCA367874875HGFc.545G>C (p.Gly182Ala)
c.530G>C (p.Gly177Ala)
n.558G>C
 dbSNP
7g.81752200C>TCA367874874HGFc.545G>A (p.Gly182Glu)
c.530G>A (p.Gly177Glu)
n.558G>A
 dbSNP gnomAD v4
7g.81752201C>ACA367874876HGFc.544G>T (p.Gly182Trp)
c.529G>T (p.Gly177Trp)
n.557G>T
 dbSNP
7g.81752201C>GCA367874878HGFc.544G>C (p.Gly182Arg)
c.529G>C (p.Gly177Arg)
n.557G>C
 dbSNP
7g.81752201C>TCA367874877HGFc.544G>A (p.Gly182Arg)
c.529G>A (p.Gly177Arg)
n.557G>A
 dbSNP
7g.81752202T>ACA456129467HGFc.543A>T (p.Arg181=)
c.528A>T (p.Arg176=)
n.556A>T
 dbSNP
7g.81752202T>CCA456129468HGFc.543A>G (p.Arg181=)
c.528A>G (p.Arg176=)
n.556A>G
 gnomAD v4
7g.81752202T>GCA456129469HGFc.543A>C (p.Arg181=)
c.528A>C (p.Arg176=)
n.556A>C
 dbSNP
7g.81752203C>ACA367874879HGFc.542G>T (p.Arg181Leu)
c.527G>T (p.Arg176Leu)
n.555G>T
 dbSNP
7g.81752203C=CA1720885419HGFc.542G= (p.Arg181=)
c.527G= (p.Arg176=)
n.555G=
7g.81752203C>GCA367874880HGFc.542G>C (p.Arg181Pro)
c.527G>C (p.Arg176Pro)
n.555G>C
 dbSNP COSMIC
7g.81752203C>TCA161098521HGFc.542G>A (p.Arg181Gln)
c.527G>A (p.Arg176Gln)
n.555G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.81752204G>ACA367874881HGFc.541C>T (p.Arg181Ter)
c.526C>T (p.Arg176Ter)
n.554C>T
 dbSNP COSMIC
7g.81752204G>CCA367874882HGFc.541C>G (p.Arg181Gly)
c.526C>G (p.Arg176Gly)
n.554C>G
 dbSNP
7g.81752204G=CA1720885420HGFc.541C= (p.Arg181=)
c.526C= (p.Arg176=)
n.554C=
7g.81752204G>TCA4317173HGFc.541C>A (p.Arg181=)
c.526C>A (p.Arg176=)
n.554C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81752205A>CCA456129470HGFc.540T>G (p.Pro180=)
c.525T>G (p.Pro175=)
n.553T>G
7g.81752205A>GCA456129472HGFc.540T>C (p.Pro180=)
c.525T>C (p.Pro175=)
n.553T>C
7g.81752205A>TCA456129471HGFc.540T>A (p.Pro180=)
c.525T>A (p.Pro175=)
n.553T>A
 dbSNP
7g.81752206G>ACA367874883HGFc.539C>T (p.Pro180Leu)
c.524C>T (p.Pro175Leu)
n.552C>T
 dbSNP COSMIC
7g.81752206G>CCA367874885HGFc.539C>G (p.Pro180Arg)
c.524C>G (p.Pro175Arg)
n.552C>G
7g.81752206G>TCA367874884HGFc.539C>A (p.Pro180His)
c.524C>A (p.Pro175His)
n.552C>A
7g.81752207G>ACA367874886HGFc.538C>T (p.Pro180Ser)
c.523C>T (p.Pro175Ser)
n.551C>T
 dbSNP
7g.81752207G>CCA367874888HGFc.538C>G (p.Pro180Ala)
c.523C>G (p.Pro175Ala)
n.551C>G
 dbSNP
7g.81752207G>TCA367874887HGFc.538C>A (p.Pro180Thr)
c.523C>A (p.Pro175Thr)
n.551C>A
 gnomAD v4
7g.81752208A>CCA367874889HGFc.537T>G (p.Asn179Lys)
c.522T>G (p.Asn174Lys)
n.550T>G
7g.81752208A>GCA456129473HGFc.537T>C (p.Asn179=)
c.522T>C (p.Asn174=)
n.550T>C
7g.81752208A>TCA367874890HGFc.537T>A (p.Asn179Lys)
c.522T>A (p.Asn174Lys)
n.550T>A
 dbSNP
7g.81752209T>ACA367874891HGFc.536A>T (p.Asn179Ile)
c.521A>T (p.Asn174Ile)
n.549A>T
7g.81752209T>CCA367874892HGFc.536A>G (p.Asn179Ser)
c.521A>G (p.Asn174Ser)
n.549A>G
 dbSNP gnomAD v2 gnomAD v4
7g.81752209T>GCA367874893HGFc.536A>C (p.Asn179Thr)
c.521A>C (p.Asn174Thr)
n.549A>C
7g.81752209T=CA1720885421HGFc.536A= (p.Asn179=)
c.521A= (p.Asn174=)
n.549A=
7g.81752210T>ACA367874894HGFc.535A>T (p.Asn179Tyr)
c.520A>T (p.Asn174Tyr)
n.548A>T
7g.81752210T>CCA367874895HGFc.535A>G (p.Asn179Asp)
c.520A>G (p.Asn174Asp)
n.548A>G
7g.81752210T>GCA367874896HGFc.535A>C (p.Asn179His)
c.520A>C (p.Asn174His)
n.548A>C
7g.81752211T>ACA456129474HGFc.534A>T (p.Arg178=)
c.519A>T (p.Arg173=)
n.547A>T
 dbSNP
7g.81752211T>CCA456129475HGFc.534A>G (p.Arg178=)
c.519A>G (p.Arg173=)
n.547A>G
7g.81752211T>GCA456129476HGFc.534A>C (p.Arg178=)
c.519A>C (p.Arg173=)
n.547A>C
7g.81752212C>ACA367874897HGFc.533G>T (p.Arg178Leu)
c.518G>T (p.Arg173Leu)
n.546G>T
 dbSNP
7g.81752212C=CA1720885422HGFc.533G= (p.Arg178=)
c.518G= (p.Arg173=)
n.546G=
7g.81752212C>GCA367874898HGFc.533G>C (p.Arg178Pro)
c.518G>C (p.Arg173Pro)
n.546G>C
 dbSNP
7g.81752212C>TCA4317174HGFc.533G>A (p.Arg178Gln)
c.518G>A (p.Arg173Gln)
n.546G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.81752212_81752215dupCA2683532891HGFc.530_533dup (p.Asn179SerfsTer25)
c.515_518dup (p.Asn174SerfsTer25)
n.543_546dup
 gnomAD v4
7g.81752213G>ACA367874899HGFc.532C>T (p.Arg178Ter)
c.517C>T (p.Arg173Ter)
n.545C>T
 dbSNP COSMIC
7g.81752213G>CCA367874900HGFc.532C>G (p.Arg178Gly)
c.517C>G (p.Arg173Gly)
n.545C>G
 dbSNP
7g.81752213G>TCA456129477HGFc.532C>A (p.Arg178=)
c.517C>A (p.Arg173=)
n.545C>A
7g.81752214A>CCA367874901HGFc.531T>G (p.Cys177Trp)
c.516T>G (p.Cys172Trp)
n.544T>G
7g.81752214A>GCA456129478HGFc.531T>C (p.Cys177=)
c.516T>C (p.Cys172=)
n.544T>C
 dbSNP
7g.81752214A>TCA367874902HGFc.531T>A (p.Cys177Ter)
c.516T>A (p.Cys172Ter)
n.544T>A
 dbSNP
7g.81752215C>ACA367874903HGFc.530G>T (p.Cys177Phe)
c.515G>T (p.Cys172Phe)
n.543G>T
 dbSNP
7g.81752215C>GCA367874905HGFc.530G>C (p.Cys177Ser)
c.515G>C (p.Cys172Ser)
n.543G>C
 dbSNP
7g.81752215C>TCA367874904HGFc.530G>A (p.Cys177Tyr)
c.515G>A (p.Cys172Tyr)
n.543G>A
 dbSNP
7g.81752216A>CCA367874906HGFc.529T>G (p.Cys177Gly)
c.514T>G (p.Cys172Gly)
n.542T>G
7g.81752216A>GCA367874907HGFc.529T>C (p.Cys177Arg)
c.514T>C (p.Cys172Arg)
n.542T>C
7g.81752216A>TCA367874908HGFc.529T>A (p.Cys177Ser)
c.514T>A (p.Cys172Ser)
n.542T>A
7g.81752217G>ACA456129479HGFc.528C>T (p.Tyr176=)
c.513C>T (p.Tyr171=)
n.541C>T
 dbSNP gnomAD v4
7g.81752217G>CCA367874909HGFc.528C>G (p.Tyr176Ter)
c.513C>G (p.Tyr171Ter)
n.541C>G
 dbSNP
7g.81752217G>TCA367874910HGFc.528C>A (p.Tyr176Ter)
c.513C>A (p.Tyr171Ter)
n.541C>A
7g.81752218T>ACA367874911HGFc.527A>T (p.Tyr176Phe)
c.512A>T (p.Tyr171Phe)
n.540A>T
 dbSNP
7g.81752218T>CCA367874912HGFc.527A>G (p.Tyr176Cys)
c.512A>G (p.Tyr171Cys)
n.540A>G
 dbSNP gnomAD v4
7g.81752218T>GCA367874913HGFc.527A>C (p.Tyr176Ser)
c.512A>C (p.Tyr171Ser)
n.540A>C
 dbSNP
7g.81752219A=CA1720885423HGFc.526T= (p.Tyr176=)
c.511T= (p.Tyr171=)
n.539T=
7g.81752219A>CCA367874914HGFc.526T>G (p.Tyr176Asp)
c.511T>G (p.Tyr171Asp)
n.539T>G
7g.81752219A>GCA4317175HGFc.526T>C (p.Tyr176His)
c.511T>C (p.Tyr171His)
n.539T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81752219A>TCA367874915HGFc.526T>A (p.Tyr176Asn)
c.511T>A (p.Tyr171Asn)
n.539T>A
7g.81752220G>ACA456129480HGFc.525C>T (p.Asn175=)
c.510C>T (p.Asn170=)
n.538C>T
 dbSNP
7g.81752220G>CCA367874917HGFc.525C>G (p.Asn175Lys)
c.510C>G (p.Asn170Lys)
n.538C>G
 dbSNP
7g.81752220G>TCA367874916HGFc.525C>A (p.Asn175Lys)
c.510C>A (p.Asn170Lys)
n.538C>A
7g.81752221T>ACA367874918HGFc.524A>T (p.Asn175Ile)
c.509A>T (p.Asn170Ile)
n.537A>T
7g.81752221T>CCA161098525HGFc.524A>G (p.Asn175Ser)
c.509A>G (p.Asn170Ser)
n.537A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.81752221T>GCA367874919HGFc.524A>C (p.Asn175Thr)
c.509A>C (p.Asn170Thr)
n.537A>C
7g.81752221T=CA1720885424HGFc.524A= (p.Asn175=)
c.509A= (p.Asn170=)
n.537A=
7g.81752222T>ACA367874920HGFc.523A>T (p.Asn175Tyr)
c.508A>T (p.Asn170Tyr)
n.536A>T
7g.81752222T>CCA367874921HGFc.523A>G (p.Asn175Asp)
c.508A>G (p.Asn170Asp)
n.536A>G
7g.81752222T>GCA367874922HGFc.523A>C (p.Asn175His)
c.508A>C (p.Asn170His)
n.536A>C
7g.81752223T>ACA367874923HGFc.522A>T (p.Glu174Asp)
c.507A>T (p.Glu169Asp)
n.535A>T
7g.81752223T>CCA456129481HGFc.522A>G (p.Glu174=)
c.507A>G (p.Glu169=)
n.535A>G
7g.81752223T>GCA367874924HGFc.522A>C (p.Glu174Asp)
c.507A>C (p.Glu169Asp)
n.535A>C
7g.81752224T>ACA367874925HGFc.521A>T (p.Glu174Val)
c.506A>T (p.Glu169Val)
n.534A>T
7g.81752224T>CCA367874926HGFc.521A>G (p.Glu174Gly)
c.506A>G (p.Glu169Gly)
n.534A>G
7g.81752224T>GCA367874927HGFc.521A>C (p.Glu174Ala)
c.506A>C (p.Glu169Ala)
n.534A>C
7g.81752225C>ACA367874928HGFc.520G>T (p.Glu174Ter)
c.505G>T (p.Glu169Ter)
n.533G>T
 dbSNP gnomAD v2
7g.81752225C=CA1720885425HGFc.520G= (p.Glu174=)
c.505G= (p.Glu169=)
n.533G=
7g.81752225C>GCA367874929HGFc.520G>C (p.Glu174Gln)
c.505G>C (p.Glu169Gln)
n.533G>C
 dbSNP
7g.81752225C>TCA367874930HGFc.520G>A (p.Glu174Lys)
c.505G>A (p.Glu169Lys)
n.533G>A
 dbSNP gnomAD v4 COSMIC
7g.81752226C>ACA367874932HGFc.519G>T (p.Gln173His)
c.504G>T (p.Gln168His)
n.532G>T
7g.81752226C>GCA367874931HGFc.519G>C (p.Gln173His)
c.504G>C (p.Gln168His)
n.532G>C
 dbSNP
7g.81752226C>TCA456129482HGFc.519G>A (p.Gln173=)
c.504G>A (p.Gln168=)
n.532G>A
 dbSNP
7g.81752227T>ACA367874933HGFc.518A>T (p.Gln173Leu)
c.503A>T (p.Gln168Leu)
n.531A>T
7g.81752227T>CCA367874934HGFc.518A>G (p.Gln173Arg)
c.503A>G (p.Gln168Arg)
n.531A>G
 dbSNP gnomAD v4
7g.81752227T>GCA367874935HGFc.518A>C (p.Gln173Pro)
c.503A>C (p.Gln168Pro)
n.531A>C
7g.81752227T=CA1720885426HGFc.518A= (p.Gln173=)
c.503A= (p.Gln168=)
n.531A=
7g.81752228G>ACA367874936HGFc.517C>T (p.Gln173Ter)
c.502C>T (p.Gln168Ter)
n.530C>T
7g.81752228G>CCA367874937HGFc.517C>G (p.Gln173Glu)
c.502C>G (p.Gln168Glu)
n.530C>G
 dbSNP
7g.81752228G>TCA367874938HGFc.517C>A (p.Gln173Lys)
c.502C>A (p.Gln168Lys)
n.530C>A
 dbSNP
7g.81752229T>ACA456129483HGFc.516A>T (p.Leu172=)
c.501A>T (p.Leu167=)
n.529A>T
7g.81752229T>CCA456129484HGFc.516A>G (p.Leu172=)
c.501A>G (p.Leu167=)
n.529A>G
7g.81752229T>GCA456129485HGFc.516A>C (p.Leu172=)
c.501A>C (p.Leu167=)
n.529A>C
7g.81752230A>CCA367874939HGFc.515T>G (p.Leu172Arg)
c.500T>G (p.Leu167Arg)
n.528T>G
7g.81752230A>GCA367874940HGFc.515T>C (p.Leu172Pro)
c.500T>C (p.Leu167Pro)
n.528T>C
7g.81752230A>TCA367874941HGFc.515T>A (p.Leu172Gln)
c.500T>A (p.Leu167Gln)
n.528T>A
7g.81752230_81752231insAATCCTCGAGGGGAAGAAGGGCA2715138289HGFc.514_515insCCCTTCTTCCCCTCGAGGATT (p.Asp171_Leu172insProLeuLeuProLeuGluAsp)
c.499_500insCCCTTCTTCCCCTCGAGGATT (p.Asp166_Leu167insProLeuLeuProLeuGluAsp)
n.527_528insCCCTTCTTCCCCTCGAGGATT
 dbSNP
7g.81752231G>ACA456129486HGFc.514C>T (p.Leu172=)
c.499C>T (p.Leu167=)
n.527C>T
 dbSNP
7g.81752231G>CCA367874942HGFc.514C>G (p.Leu172Val)
c.499C>G (p.Leu167Val)
n.527C>G
 COSMIC
7g.81752231G>TCA367874943HGFc.514C>A (p.Leu172Ile)
c.499C>A (p.Leu167Ile)
n.527C>A
7g.81752232G>ACA456129487HGFc.513C>T (p.Asp171=)
c.498C>T (p.Asp166=)
n.526C>T
 dbSNP gnomAD v2 gnomAD v4
7g.81752232G>CCA367874944HGFc.513C>G (p.Asp171Glu)
c.498C>G (p.Asp166Glu)
n.526C>G
 dbSNP
7g.81752232G=CA1720885427HGFc.513C= (p.Asp171=)
c.498C= (p.Asp166=)
n.526C=
7g.81752232G>TCA367874945HGFc.513C>A (p.Asp171Glu)
c.498C>A (p.Asp166Glu)
n.526C>A
 dbSNP
7g.81752233T>ACA367874946HGFc.512A>T (p.Asp171Val)
c.497A>T (p.Asp166Val)
n.525A>T
 dbSNP gnomAD v4
7g.81752233T>CCA367874948HGFc.512A>G (p.Asp171Gly)
c.497A>G (p.Asp166Gly)
n.525A>G
7g.81752233T>GCA367874947HGFc.512A>C (p.Asp171Ala)
c.497A>C (p.Asp166Ala)
n.525A>C
7g.81752234C>ACA367874949HGFc.511G>T (p.Asp171Tyr)
c.496G>T (p.Asp166Tyr)
n.524G>T
7g.81752234C>GCA367874950HGFc.511G>C (p.Asp171His)
c.496G>C (p.Asp166His)
n.524G>C
 gnomAD v4
7g.81752234C>TCA367874951HGFc.511G>A (p.Asp171Asn)
c.496G>A (p.Asp166Asn)
n.524G>A
7g.81752235T>ACA367874952HGFc.510A>T (p.Lys170Asn)
c.495A>T (p.Lys165Asn)
n.523A>T
7g.81752235T>CCA456129488HGFc.510A>G (p.Lys170=)
c.495A>G (p.Lys165=)
n.523A>G
 COSMIC
7g.81752235T>GCA367874953HGFc.510A>C (p.Lys170Asn)
c.495A>C (p.Lys165Asn)
n.523A>C
7g.81752236T>ACA367874954HGFc.509A>T (p.Lys170Ile)
c.494A>T (p.Lys165Ile)
n.522A>T
7g.81752236T>CCA367874955HGFc.509A>G (p.Lys170Arg)
c.494A>G (p.Lys165Arg)
n.522A>G
7g.81752236T>GCA367874956HGFc.509A>C (p.Lys170Thr)
c.494A>C (p.Lys165Thr)
n.522A>C
7g.81752237T>ACA367874957HGFc.508A>T (p.Lys170Ter)
c.493A>T (p.Lys165Ter)
n.521A>T
7g.81752237T>CCA367874958HGFc.508A>G (p.Lys170Glu)
c.493A>G (p.Lys165Glu)
n.521A>G
 ClinVar dbSNP
7g.81752237T>GCA367874959HGFc.508A>C (p.Lys170Gln)
c.493A>C (p.Lys165Gln)
n.521A>C
7g.81752238A=CA1720885428HGFc.507T= (p.Gly169=)
c.492T= (p.Gly164=)
n.520T=
7g.81752238A>CCA456129489HGFc.507T>G (p.Gly169=)
c.492T>G (p.Gly164=)
n.520T>G
7g.81752238A>GCA4317176HGFc.507T>C (p.Gly169=)
c.492T>C (p.Gly164=)
n.520T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81752238A>TCA456129490HGFc.507T>A (p.Gly169=)
c.492T>A (p.Gly164=)
n.520T>A
 dbSNP
7g.81752239C>ACA367874962HGFc.506G>T (p.Gly169Val)
c.491G>T (p.Gly164Val)
n.519G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.81752239C=CA1720885429HGFc.506G= (p.Gly169=)
c.491G= (p.Gly164=)
n.519G=
7g.81752239C>GCA367874961HGFc.506G>C (p.Gly169Ala)
c.491G>C (p.Gly164Ala)
n.519G>C
 dbSNP
7g.81752239C>TCA367874960HGFc.506G>A (p.Gly169Asp)
c.491G>A (p.Gly164Asp)
n.519G>A
 dbSNP gnomAD v2 gnomAD v4
7g.81752240C>ACA367874963HGFc.505G>T (p.Gly169Cys)
c.490G>T (p.Gly164Cys)
n.518G>T
 dbSNP COSMIC
7g.81752240C>GCA367874964HGFc.505G>C (p.Gly169Arg)
c.490G>C (p.Gly164Arg)
n.518G>C
 dbSNP
7g.81752240C>TCA367874965HGFc.505G>A (p.Gly169Ser)
c.490G>A (p.Gly164Ser)
n.518G>A
7g.81752241C>ACA456129491HGFc.504G>T (p.Arg168=)
c.489G>T (p.Arg163=)
n.517G>T
 dbSNP
7g.81752241C=CA1720885430HGFc.504G= (p.Arg168=)
c.489G= (p.Arg163=)
n.517G=
7g.81752241C>GCA456129492HGFc.504G>C (p.Arg168=)
c.489G>C (p.Arg163=)
n.517G>C
 dbSNP
7g.81752241C>TCA456129493HGFc.504G>A (p.Arg168=)
c.489G>A (p.Arg163=)
n.517G>A
 dbSNP gnomAD v2
7g.81752242C>ACA367874966HGFc.503G>T (p.Arg168Leu)
c.488G>T (p.Arg163Leu)
n.516G>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC
7g.81752242C=CA1720885431HGFc.503G= (p.Arg168=)
c.488G= (p.Arg163=)
n.516G=
7g.81752242C>GCA367874967HGFc.503G>C (p.Arg168Pro)
c.488G>C (p.Arg163Pro)
n.516G>C
 dbSNP
7g.81752242C>TCA161098526HGFc.503G>A (p.Arg168Gln)
c.488G>A (p.Arg163Gln)
n.516G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81752243G>ACA4317177HGFc.502C>T (p.Arg168Trp)
c.487C>T (p.Arg163Trp)
n.515C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81752243G>CCA367874968HGFc.502C>G (p.Arg168Gly)
c.487C>G (p.Arg163Gly)
n.515C>G
 dbSNP
7g.81752243G=CA1720885432HGFc.502C= (p.Arg168=)
c.487C= (p.Arg163=)
n.515C=
7g.81752243G>TCA456129494HGFc.502C>A (p.Arg168=)
c.487C>A (p.Arg163=)
n.515C>A
7g.81752244A>CCA367874969HGFc.501T>G (p.Tyr167Ter)
c.486T>G (p.Tyr162Ter)
n.514T>G
7g.81752244A>GCA456129495HGFc.501T>C (p.Tyr167=)
c.486T>C (p.Tyr162=)
n.514T>C
7g.81752244A>TCA367874970HGFc.501T>A (p.Tyr167Ter)
c.486T>A (p.Tyr162Ter)
n.514T>A
 dbSNP
7g.81752245T>ACA367874971HGFc.500A>T (p.Tyr167Phe)
c.485A>T (p.Tyr162Phe)
n.513A>T
 dbSNP
7g.81752245T>CCA4317178HGFc.500A>G (p.Tyr167Cys)
c.485A>G (p.Tyr162Cys)
n.513A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.81752245T>GCA367874972HGFc.500A>C (p.Tyr167Ser)
c.485A>C (p.Tyr162Ser)
n.513A>C
7g.81752245T=CA1720885433HGFc.500A= (p.Tyr167=)
c.485A= (p.Tyr162=)
n.513A=
7g.81752246A=CA1720885434HGFc.499T= (p.Tyr167=)
c.484T= (p.Tyr162=)
n.512T=
7g.81752246A>CCA367874974HGFc.499T>G (p.Tyr167Asp)
c.484T>G (p.Tyr162Asp)
n.512T>G
7g.81752246A>GCA367874975HGFc.499T>C (p.Tyr167His)
c.484T>C (p.Tyr162His)
n.512T>C
 dbSNP
7g.81752246A>TCA367874973HGFc.499T>A (p.Tyr167Asn)
c.484T>A (p.Tyr162Asn)
n.512T>A
7g.81752247G>ACA456129496HGFc.498C>T (p.Ser166=)
c.483C>T (p.Ser161=)
n.511C>T
 COSMIC
7g.81752247G>CCA367874976HGFc.498C>G (p.Ser166Arg)
c.483C>G (p.Ser161Arg)
n.511C>G
 dbSNP
7g.81752247G>TCA367874977HGFc.498C>A (p.Ser166Arg)
c.483C>A (p.Ser161Arg)
n.511C>A
7g.81752248C>ACA367874978HGFc.497G>T (p.Ser166Ile)
c.483-1G>T (n.483-1G>T)
n.511-1G>T
 dbSNP COSMIC
7g.81752248C=CA1720885435HGFc.497G= (p.Ser166=)
c.483-1G= (n.483-1G=)
n.511-1G=
7g.81752248C>GCA367874979HGFc.497G>C (p.Ser166Thr)
c.483-1G>C (n.483-1G>C)
n.511-1G>C
 dbSNP
7g.81752248C>TCA161098531HGFc.497G>A (p.Ser166Asn)
c.483-1G>A (n.483-1G>A)
n.511-1G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81752249T>ACA367874980HGFc.496A>T (p.Ser166Cys)
c.483-2A>T (n.483-2A>T)
n.511-2A>T
 dbSNP
7g.81752249T>CCA367874981HGFc.496A>G (p.Ser166Gly)
c.483-2A>G (n.483-2A>G)
n.511-2A>G
7g.81752249T>GCA367874982HGFc.496A>C (p.Ser166Arg)
c.483-2A>C (n.483-2A>C)
n.511-2A>C
7g.81752250C>ACA456129497HGFc.495G>T (p.Ser165=)
c.483-3G>T (n.483-3G>T)
n.511-3G>T
 dbSNP
7g.81752250C=CA1720885436HGFc.495G= (p.Ser165=)
c.483-3G= (n.483-3G=)
n.511-3G=
7g.81752250C>GCA456129498HGFc.495G>C (p.Ser165=)
c.483-3G>C (n.483-3G>C)
n.511-3G>C
 dbSNP
7g.81752250C>TCA257399HGFc.495G>A (p.Ser165=)
c.483-3G>A (n.483-3G>A)
n.511-3G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.81752251G>ACA4317179HGFc.494C>T (p.Ser165Leu)
c.483-4C>T (n.483-4C>T)
n.511-4C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.81752251G>CCA367874983HGFc.494C>G (p.Ser165Trp)
c.483-4C>G (n.483-4C>G)
n.511-4C>G
 dbSNP
7g.81752251G=CA1720885437HGFc.494C= (p.Ser165=)
c.483-4C= (n.483-4C=)
n.511-4C=
7g.81752251G>TCA367874984HGFc.494C>A (p.Ser165Ter)
c.483-4C>A (n.483-4C>A)
n.511-4C>A
7g.81752252A=CA1720885438HGFc.493T= (p.Ser165=)
c.483-5T= (n.483-5T=)
n.511-5T=
7g.81752252A>CCA367874986HGFc.493T>G (p.Ser165Ala)
c.483-5T>G (n.483-5T>G)
n.511-5T>G
7g.81752252A>GCA161098541HGFc.493T>C (p.Ser165Pro)
c.483-5T>C (n.483-5T>C)
n.511-5T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81752252A>TCA367874985HGFc.493T>A (p.Ser165Thr)
c.483-5T>A (n.483-5T>A)
n.511-5T>A
7g.81752253A>CCA456129499HGFc.492T>G (p.Pro164=)
c.483-6T>G (n.483-6T>G)
n.511-6T>G
7g.81752253A>GCA456129500HGFc.492T>C (p.Pro164=)
c.483-6T>C (n.483-6T>C)
n.511-6T>C
 gnomAD v4
7g.81752253A>TCA456129501HGFc.492T>A (p.Pro164=)
c.483-6T>A (n.483-6T>A)
n.511-6T>A
7g.81752254G>ACA367874987HGFc.491C>T (p.Pro164Leu)
c.483-7C>T (n.483-7C>T)
n.511-7C>T
 dbSNP
7g.81752254G>CCA367874988HGFc.491C>G (p.Pro164Arg)
c.483-7C>G (n.483-7C>G)
n.511-7C>G
7g.81752254G>TCA367874989HGFc.491C>A (p.Pro164His)
c.483-7C>A (n.483-7C>A)
n.511-7C>A
7g.81752254_81752256delCA2683532892HGFc.489_491del (p.Leu163_Pro164delinsPhe)
c.483-9_483-7del (n.483-9_483-7del)
n.511-9_511-7del
 gnomAD v4
7g.81752255G>ACA367874990HGFc.490C>T (p.Pro164Ser)
c.483-8C>T (n.483-8C>T)
n.511-8C>T
 dbSNP
7g.81752255G>CCA367874991HGFc.490C>G (p.Pro164Ala)
c.483-8C>G (n.483-8C>G)
n.511-8C>G
7g.81752255G>TCA367874992HGFc.490C>A (p.Pro164Thr)
c.483-8C>A (n.483-8C>A)
n.511-8C>A
7g.81752256C>ACA367874993HGFc.489G>T (p.Leu163Phe)
c.483-9G>T (n.483-9G>T)
n.511-9G>T
7g.81752256C=CA1720885439HGFc.489G= (p.Leu163=)
c.483-9G= (n.483-9G=)
n.511-9G=
7g.81752256C>GCA367874994HGFc.489G>C (p.Leu163Phe)
c.483-9G>C (n.483-9G>C)
n.511-9G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.81752256C>TCA456129502HGFc.489G>A (p.Leu163=)
c.483-9G>A (n.483-9G>A)
n.511-9G>A
7g.81752257A>CCA367874995HGFc.488T>G (p.Leu163Trp)
c.483-10T>G (n.483-10T>G)
n.511-10T>G
7g.81752257A>GCA367874996HGFc.488T>C (p.Leu163Ser)
c.483-10T>C (n.483-10T>C)
n.511-10T>C
7g.81752257A>TCA367874997HGFc.488T>A (p.Leu163Ter)
c.483-10T>A (n.483-10T>A)
n.511-10T>A
7g.81752261delCA645542248HGFc.488del (p.Leu163CysfsTer?)
c.483-10del (n.483-10del)
n.511-10del
 COSMIC
7g.81752258A>CCA367874999HGFc.487T>G (p.Leu163Val)
c.483-11T>G (n.483-11T>G)
n.511-11T>G
 gnomAD v4
7g.81752258A>GCA456129503HGFc.487T>C (p.Leu163=)
c.483-11T>C (n.483-11T>C)
n.511-11T>C
7g.81752258A>TCA367874998HGFc.487T>A (p.Leu163Met)
c.483-11T>A (n.483-11T>A)
n.511-11T>A
7g.81752259A>CCA367875000HGFc.486T>G (p.Phe162Leu)
c.483-12T>G (n.483-12T>G)
n.511-12T>G
7g.81752259A>GCA456129504HGFc.486T>C (p.Phe162=)
c.483-12T>C (n.483-12T>C)
n.511-12T>C
7g.81752259A>TCA367875001HGFc.486T>A (p.Phe162Leu)
c.483-12T>A (n.483-12T>A)
n.511-12T>A

Number of alleles fetched