Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.93218555A>CCA487594051UBR7c.630A>C (p.Gly210=)
c.402A>C (p.Gly134=)
c.*331A>C (n.*331A>C)
c.378+3274A>C
c.534A>C (p.Gly178=)
c.339A>C (p.Gly113=)
n.539A>C
n.732A>C
n.532A>C
14g.93218555A>GCA487594052UBR7c.630A>G (p.Gly210=)
c.402A>G (p.Gly134=)
c.*331A>G (n.*331A>G)
c.378+3274A>G
c.534A>G (p.Gly178=)
c.339A>G (p.Gly113=)
n.539A>G
n.732A>G
n.532A>G
14g.93218555A>TCA487594053UBR7c.630A>T (p.Gly210=)
c.402A>T (p.Gly134=)
c.*331A>T (n.*331A>T)
c.378+3274A>T
c.534A>T (p.Gly178=)
c.339A>T (p.Gly113=)
n.539A>T
n.732A>T
n.532A>T
14g.93218555_93218556delinsATCA2155441021UBR7c.630_631delinsAT (p.Gly210=)
c.402_403delinsAT (p.Gly134=)
c.*331_*332delinsAT (n.*331_*332delinsAT)
c.378+3274_378+3275delinsAT
c.534_535delinsAT (p.Gly178=)
c.339_340delinsAT (p.Gly113=)
n.539_540delinsAT
n.732_733delinsAT
n.532_533delinsAT
14g.93218556T>ACA390810714UBR7c.631T>A (p.Leu211Met)
c.403T>A (p.Leu135Met)
c.*332T>A (n.*332T>A)
c.378+3275T>A
c.535T>A
c.340T>A (p.Leu114Met)
n.540T>A
n.733T>A
n.533T>A
14g.93218556T>CCA487594054UBR7c.631T>C (p.Leu211=)
c.403T>C (p.Leu135=)
c.*332T>C (n.*332T>C)
c.378+3275T>C
c.535T>C
c.340T>C (p.Leu114=)
n.540T>C
n.733T>C
n.533T>C
 dbSNP gnomAD v4
14g.93218556T>GCA390810715UBR7c.631T>G (p.Leu211Val)
c.403T>G (p.Leu135Val)
c.*332T>G (n.*332T>G)
c.378+3275T>G
c.535T>G
c.340T>G (p.Leu114Val)
n.540T>G
n.733T>G
n.533T>G
14g.93218556T=CA2155441022UBR7c.631T= (p.Leu211=)
c.403T= (p.Leu135=)
c.*332T= (n.*332T=)
c.378+3275T=
c.535T=
c.340T= (p.Leu114=)
n.540T=
n.733T=
n.533T=
14g.93218557delCA2155441023UBR7c.632del (p.Leu211TrpfsTer8)
c.404del (p.Leu135TrpfsTer8)
c.*333del (n.*333del)
c.378+3276del
c.536del
c.341del (p.Leu114TrpfsTer8)
n.541del
n.734del
n.534del
 dbSNP
14g.93218557T>ACA390810716UBR7c.632T>A (p.Leu211Ter)
c.404T>A (p.Leu135Ter)
c.*333T>A (n.*333T>A)
c.378+3276T>A
c.536T>A
c.341T>A (p.Leu114Ter)
n.541T>A
n.734T>A
n.534T>A
14g.93218557T>CCA265761402UBR7c.632T>C (p.Leu211Ser)
c.404T>C (p.Leu135Ser)
c.*333T>C (n.*333T>C)
c.378+3276T>C
c.536T>C
c.341T>C (p.Leu114Ser)
n.541T>C
n.734T>C
n.534T>C
 dbSNP
14g.93218557T>GCA390810717UBR7c.632T>G (p.Leu211Trp)
c.404T>G (p.Leu135Trp)
c.*333T>G (n.*333T>G)
c.378+3276T>G
c.536T>G
c.341T>G (p.Leu114Trp)
n.541T>G
n.734T>G
n.534T>G
14g.93218557T=CA2155441024UBR7c.632T= (p.Leu211=)
c.404T= (p.Leu135=)
c.*333T= (n.*333T=)
c.378+3276T=
c.536T=
c.341T= (p.Leu114=)
n.541T=
n.734T=
n.534T=
14g.93218558G>ACA487594055UBR7c.633G>A (p.Leu211=)
c.405G>A (p.Leu135=)
c.*334G>A (n.*334G>A)
c.378+3277G>A
c.342G>A (p.Leu114=)
n.542G>A
n.735G>A
n.535G>A
14g.93218558G>CCA390810718UBR7c.633G>C (p.Leu211Phe)
c.405G>C (p.Leu135Phe)
c.*334G>C (n.*334G>C)
c.378+3277G>C
c.342G>C (p.Leu114Phe)
n.542G>C
n.735G>C
n.535G>C
 gnomAD v4
14g.93218558G>TCA390810719UBR7c.633G>T (p.Leu211Phe)
c.405G>T (p.Leu135Phe)
c.*334G>T (n.*334G>T)
c.378+3277G>T
c.342G>T (p.Leu114Phe)
n.542G>T
n.735G>T
n.535G>T
14g.93218559G>ACA390810720UBR7c.634G>A (p.Val212Met)
c.406G>A (p.Val136Met)
c.*335G>A (n.*335G>A)
c.378+3278G>A
c.343G>A (p.Val115Met)
n.543G>A
n.736G>A
n.536G>A
 dbSNP gnomAD v2
14g.93218559G>CCA390810721UBR7c.634G>C (p.Val212Leu)
c.406G>C (p.Val136Leu)
c.*335G>C (n.*335G>C)
c.378+3278G>C
c.343G>C (p.Val115Leu)
n.543G>C
n.736G>C
n.536G>C
14g.93218559G=CA2155441025UBR7c.634G= (p.Val212=)
c.406G= (p.Val136=)
c.*335G= (n.*335G=)
c.378+3278G=
c.343G= (p.Val115=)
n.543G=
n.736G=
n.536G=
14g.93218559G>TCA390810722UBR7c.634G>T (p.Val212Leu)
c.406G>T (p.Val136Leu)
c.*335G>T (n.*335G>T)
c.378+3278G>T
c.343G>T (p.Val115Leu)
n.543G>T
n.736G>T
n.536G>T
14g.93218560T>ACA390810724UBR7c.635T>A (p.Val212Glu)
c.407T>A (p.Val136Glu)
c.*336T>A (n.*336T>A)
c.378+3279T>A
c.344T>A (p.Val115Glu)
n.544T>A
n.737T>A
n.537T>A
14g.93218560T>CCA390810725UBR7c.635T>C (p.Val212Ala)
c.407T>C (p.Val136Ala)
c.*336T>C (n.*336T>C)
c.378+3279T>C
c.344T>C (p.Val115Ala)
n.544T>C
n.737T>C
n.537T>C
 gnomAD v4
14g.93218560T>GCA390810723UBR7c.635T>G (p.Val212Gly)
c.407T>G (p.Val136Gly)
c.*336T>G (n.*336T>G)
c.378+3279T>G
c.344T>G (p.Val115Gly)
n.544T>G
n.737T>G
n.537T>G
14g.93218561G>ACA7319897UBR7c.636G>A (p.Val212=)
c.408G>A (p.Val136=)
c.*337G>A (n.*337G>A)
c.378+3280G>A
c.345G>A (p.Val115=)
n.545G>A
n.738G>A
n.538G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218561G>CCA487594057UBR7c.636G>C (p.Val212=)
c.408G>C (p.Val136=)
c.*337G>C (n.*337G>C)
c.378+3280G>C
c.345G>C (p.Val115=)
n.545G>C
n.738G>C
n.538G>C
14g.93218561G=CA2155441026UBR7c.636G= (p.Val212=)
c.408G= (p.Val136=)
c.*337G= (n.*337G=)
c.378+3280G=
c.345G= (p.Val115=)
n.545G=
n.738G=
n.538G=
14g.93218561G>TCA487594056UBR7c.636G>T (p.Val212=)
c.408G>T (p.Val136=)
c.*337G>T (n.*337G>T)
c.378+3280G>T
c.345G>T (p.Val115=)
n.545G>T
n.738G>T
n.538G>T
14g.93218562C>ACA487594058UBR7c.637C>A (p.Arg213=)
c.409C>A (p.Arg137=)
c.*338C>A (n.*338C>A)
c.378+3281C>A
c.346C>A (p.Arg116=)
n.546C>A
n.739C>A
n.539C>A
14g.93218562C=CA2155441027UBR7c.637C= (p.Arg213=)
c.409C= (p.Arg137=)
c.*338C= (n.*338C=)
c.378+3281C=
c.346C= (p.Arg116=)
n.546C=
n.739C=
n.539C=
14g.93218562C>GCA390810726UBR7c.637C>G (p.Arg213Gly)
c.409C>G (p.Arg137Gly)
c.*338C>G (n.*338C>G)
c.378+3281C>G
c.346C>G (p.Arg116Gly)
n.546C>G
n.739C>G
n.539C>G
14g.93218562C>TCA7319898UBR7c.637C>T (p.Arg213Trp)
c.409C>T (p.Arg137Trp)
c.*338C>T (n.*338C>T)
c.378+3281C>T
c.346C>T (p.Arg116Trp)
n.546C>T
n.739C>T
n.539C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218563G>ACA265761406UBR7c.638G>A (p.Arg213Gln)
c.410G>A (p.Arg137Gln)
c.*339G>A (n.*339G>A)
c.378+3282G>A
c.347G>A (p.Arg116Gln)
n.547G>A
n.740G>A
n.540G>A
 dbSNP gnomAD v4 COSMIC
14g.93218563G>CCA390810727UBR7c.638G>C (p.Arg213Pro)
c.410G>C (p.Arg137Pro)
c.*339G>C (n.*339G>C)
c.378+3282G>C
c.347G>C (p.Arg116Pro)
n.547G>C
n.740G>C
n.540G>C
14g.93218563G=CA2155441028UBR7c.638G= (p.Arg213=)
c.410G= (p.Arg137=)
c.*339G= (n.*339G=)
c.378+3282G=
c.347G= (p.Arg116=)
n.547G=
n.740G=
n.540G=
14g.93218563G>TCA390810728UBR7c.638G>T (p.Arg213Leu)
c.410G>T (p.Arg137Leu)
c.*339G>T (n.*339G>T)
c.378+3282G>T
c.347G>T (p.Arg116Leu)
n.547G>T
n.740G>T
n.540G>T
14g.93218564G>ACA487594059UBR7c.639G>A (p.Arg213=)
c.411G>A (p.Arg137=)
c.*340G>A (n.*340G>A)
c.378+3283G>A
c.348G>A (p.Arg116=)
n.548G>A
n.741G>A
n.541G>A
14g.93218564G>CCA7319899UBR7c.639G>C (p.Arg213=)
c.411G>C (p.Arg137=)
c.*340G>C (n.*340G>C)
c.378+3283G>C
c.348G>C (p.Arg116=)
n.548G>C
n.741G>C
n.541G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218564G=CA2155441029UBR7c.639G= (p.Arg213=)
c.411G= (p.Arg137=)
c.*340G= (n.*340G=)
c.378+3283G=
c.348G= (p.Arg116=)
n.548G=
n.741G=
n.541G=
14g.93218564G>TCA487594060UBR7c.639G>T (p.Arg213=)
c.411G>T (p.Arg137=)
c.*340G>T (n.*340G>T)
c.378+3283G>T
c.348G>T (p.Arg116=)
n.548G>T
n.741G>T
n.541G>T
 dbSNP
14g.93218565A>CCA390810729UBR7c.640A>C (p.Asn214His)
c.412A>C (p.Asn138His)
c.*341A>C (n.*341A>C)
c.378+3284A>C
c.349A>C (p.Asn117His)
n.549A>C
n.742A>C
n.542A>C
14g.93218565A>GCA390810730UBR7c.640A>G (p.Asn214Asp)
c.412A>G (p.Asn138Asp)
c.*341A>G (n.*341A>G)
c.378+3284A>G
c.349A>G (p.Asn117Asp)
n.549A>G
n.742A>G
n.542A>G
14g.93218565A>TCA390810731UBR7c.640A>T (p.Asn214Tyr)
c.412A>T (p.Asn138Tyr)
c.*341A>T (n.*341A>T)
c.378+3284A>T
c.349A>T (p.Asn117Tyr)
n.549A>T
n.742A>T
n.542A>T
14g.93218566A>CCA390810732UBR7c.641A>C (p.Asn214Thr)
c.413A>C (p.Asn138Thr)
c.*342A>C (n.*342A>C)
c.378+3285A>C
c.350A>C (p.Asn117Thr)
n.550A>C
n.743A>C
n.543A>C
14g.93218566A>GCA390810733UBR7c.641A>G (p.Asn214Ser)
c.413A>G (p.Asn138Ser)
c.*342A>G (n.*342A>G)
c.378+3285A>G
c.350A>G (p.Asn117Ser)
n.550A>G
n.743A>G
n.543A>G
14g.93218566A>TCA390810734UBR7c.641A>T (p.Asn214Ile)
c.413A>T (p.Asn138Ile)
c.*342A>T (n.*342A>T)
c.378+3285A>T
c.350A>T (p.Asn117Ile)
n.550A>T
n.743A>T
n.543A>T
 dbSNP
14g.93218567C>ACA390810735UBR7c.642C>A (p.Asn214Lys)
c.414C>A (p.Asn138Lys)
c.*343C>A (n.*343C>A)
c.378+3286C>A
c.351C>A (p.Asn117Lys)
n.551C>A
n.744C>A
n.544C>A
14g.93218567C>GCA390810736UBR7c.642C>G (p.Asn214Lys)
c.414C>G (p.Asn138Lys)
c.*343C>G (n.*343C>G)
c.378+3286C>G
c.351C>G (p.Asn117Lys)
n.551C>G
n.744C>G
n.544C>G
14g.93218567C>TCA487594061UBR7c.642C>T (p.Asn214=)
c.414C>T (p.Asn138=)
c.*343C>T (n.*343C>T)
c.378+3286C>T
c.351C>T (p.Asn117=)
n.551C>T
n.744C>T
n.544C>T
14g.93218568A=CA2155441030UBR7c.643A= (p.Ile215=)
c.415A= (p.Ile139=)
c.*344A= (n.*344A=)
c.378+3287A=
c.352A= (p.Ile118=)
n.552A=
n.745A=
n.545A=
14g.93218568A>CCA390810737UBR7c.643A>C (p.Ile215Leu)
c.415A>C (p.Ile139Leu)
c.*344A>C (n.*344A>C)
c.378+3287A>C
c.352A>C (p.Ile118Leu)
n.552A>C
n.745A>C
n.545A>C
 dbSNP gnomAD v2 gnomAD v4
14g.93218568A>GCA390810738UBR7c.643A>G (p.Ile215Val)
c.415A>G (p.Ile139Val)
c.*344A>G (n.*344A>G)
c.378+3287A>G
c.352A>G (p.Ile118Val)
n.552A>G
n.745A>G
n.545A>G
 dbSNP gnomAD v3 gnomAD v4
14g.93218568A>TCA390810739UBR7c.643A>T (p.Ile215Phe)
c.415A>T (p.Ile139Phe)
c.*344A>T (n.*344A>T)
c.378+3287A>T
c.352A>T (p.Ile118Phe)
n.552A>T
n.745A>T
n.545A>T
14g.93218569T>ACA390810740UBR7c.644T>A (p.Ile215Asn)
c.416T>A (p.Ile139Asn)
c.*345T>A (n.*345T>A)
c.378+3288T>A
c.353T>A (p.Ile118Asn)
n.553T>A
n.746T>A
n.546T>A
14g.93218569T>CCA390810741UBR7c.644T>C (p.Ile215Thr)
c.416T>C (p.Ile139Thr)
c.*345T>C (n.*345T>C)
c.378+3288T>C
c.353T>C (p.Ile118Thr)
n.553T>C
n.746T>C
n.546T>C
14g.93218569T>GCA390810742UBR7c.644T>G (p.Ile215Ser)
c.416T>G (p.Ile139Ser)
c.*345T>G (n.*345T>G)
c.378+3288T>G
c.353T>G (p.Ile118Ser)
n.553T>G
n.746T>G
n.546T>G
14g.93218570T>ACA487594062UBR7c.645T>A (p.Ile215=)
c.417T>A (p.Ile139=)
c.*346T>A (n.*346T>A)
c.378+3289T>A
c.354T>A (p.Ile118=)
n.554T>A
n.747T>A
n.547T>A
14g.93218570T>CCA487594063UBR7c.645T>C (p.Ile215=)
c.417T>C (p.Ile139=)
c.*346T>C (n.*346T>C)
c.378+3289T>C
c.354T>C (p.Ile118=)
n.554T>C
n.747T>C
n.547T>C
14g.93218570T>GCA390810743UBR7c.645T>G (p.Ile215Met)
c.417T>G (p.Ile139Met)
c.*346T>G (n.*346T>G)
c.378+3289T>G
c.354T>G (p.Ile118Met)
n.554T>G
n.747T>G
n.547T>G
14g.93218571G>ACA390810745UBR7c.646G>A (p.Asp216Asn)
c.418G>A (p.Asp140Asn)
c.*347G>A (n.*347G>A)
c.378+3290G>A
c.355G>A (p.Asp119Asn)
n.555G>A
n.748G>A
n.548G>A
14g.93218571G>CCA390810747UBR7c.646G>C (p.Asp216His)
c.418G>C (p.Asp140His)
c.*347G>C (n.*347G>C)
c.378+3290G>C
c.355G>C (p.Asp119His)
n.555G>C
n.748G>C
n.548G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218571G=CA2155441031UBR7c.646G= (p.Asp216=)
c.418G= (p.Asp140=)
c.*347G= (n.*347G=)
c.378+3290G=
c.355G= (p.Asp119=)
n.555G=
n.748G=
n.548G=
14g.93218571G>TCA390810749UBR7c.646G>T (p.Asp216Tyr)
c.418G>T (p.Asp140Tyr)
c.*347G>T (n.*347G>T)
c.378+3290G>T
c.355G>T (p.Asp119Tyr)
n.555G>T
n.748G>T
n.548G>T
14g.93218572A>CCA390810750UBR7c.647A>C (p.Asp216Ala)
c.419A>C (p.Asp140Ala)
c.*348A>C (n.*348A>C)
c.378+3291A>C
c.356A>C (p.Asp119Ala)
n.556A>C
n.749A>C
n.549A>C
14g.93218572A>GCA390810752UBR7c.647A>G (p.Asp216Gly)
c.419A>G (p.Asp140Gly)
c.*348A>G (n.*348A>G)
c.378+3291A>G
c.356A>G (p.Asp119Gly)
n.556A>G
n.749A>G
n.549A>G
 gnomAD v4
14g.93218572A>TCA390810754UBR7c.647A>T (p.Asp216Val)
c.419A>T (p.Asp140Val)
c.*348A>T (n.*348A>T)
c.378+3291A>T
c.356A>T (p.Asp119Val)
n.556A>T
n.749A>T
n.549A>T
14g.93218573T>ACA390810759UBR7c.648T>A (p.Asp216Glu)
c.420T>A (p.Asp140Glu)
c.*349T>A (n.*349T>A)
c.378+3292T>A
c.357T>A (p.Asp119Glu)
n.557T>A
n.750T>A
n.550T>A
 dbSNP gnomAD v3 gnomAD v4
14g.93218573T>CCA487594064UBR7c.648T>C (p.Asp216=)
c.420T>C (p.Asp140=)
c.*349T>C (n.*349T>C)
c.378+3292T>C
c.357T>C (p.Asp119=)
n.557T>C
n.750T>C
n.550T>C
14g.93218573T>GCA390810756UBR7c.648T>G (p.Asp216Glu)
c.420T>G (p.Asp140Glu)
c.*349T>G (n.*349T>G)
c.378+3292T>G
c.357T>G (p.Asp119Glu)
n.557T>G
n.750T>G
n.550T>G
14g.93218573T=CA2155441032UBR7c.648T= (p.Asp216=)
c.420T= (p.Asp140=)
c.*349T= (n.*349T=)
c.378+3292T=
c.357T= (p.Asp119=)
n.557T=
n.750T=
n.550T=
14g.93218574G>ACA390810760UBR7c.649G>A (p.Gly217Arg)
c.421G>A (p.Gly141Arg)
c.*350G>A (n.*350G>A)
c.378+3293G>A
c.358G>A (p.Gly120Arg)
n.558G>A
n.751G>A
n.551G>A
14g.93218574G>CCA390810762UBR7c.649G>C (p.Gly217Arg)
c.421G>C (p.Gly141Arg)
c.*350G>C (n.*350G>C)
c.378+3293G>C
c.358G>C (p.Gly120Arg)
n.558G>C
n.751G>C
n.551G>C
14g.93218574G>TCA390810764UBR7c.649G>T (p.Gly217Ter)
c.421G>T (p.Gly141Ter)
c.*350G>T (n.*350G>T)
c.378+3293G>T
c.358G>T (p.Gly120Ter)
n.558G>T
n.751G>T
n.551G>T
14g.93218575G>ACA390810766UBR7c.650G>A (p.Gly217Glu)
c.422G>A (p.Gly141Glu)
c.*351G>A (n.*351G>A)
c.378+3294G>A
c.359G>A (p.Gly120Glu)
n.559G>A
n.752G>A
n.552G>A
14g.93218575G>CCA390810768UBR7c.650G>C (p.Gly217Ala)
c.422G>C (p.Gly141Ala)
c.*351G>C (n.*351G>C)
c.378+3294G>C
c.359G>C (p.Gly120Ala)
n.559G>C
n.752G>C
n.552G>C
14g.93218575G=CA2155441033UBR7c.650G= (p.Gly217=)
c.422G= (p.Gly141=)
c.*351G= (n.*351G=)
c.378+3294G=
c.359G= (p.Gly120=)
n.559G=
n.752G=
n.552G=
14g.93218575G>TCA7319900UBR7c.650G>T (p.Gly217Val)
c.422G>T (p.Gly141Val)
c.*351G>T (n.*351G>T)
c.378+3294G>T
c.359G>T (p.Gly120Val)
n.559G>T
n.752G>T
n.552G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218576A>CCA487594065UBR7c.651A>C (p.Gly217=)
c.423A>C (p.Gly141=)
c.*352A>C (n.*352A>C)
c.378+3295A>C
c.360A>C (p.Gly120=)
n.560A>C
n.753A>C
n.553A>C
14g.93218576A>GCA487594066UBR7c.651A>G (p.Gly217=)
c.423A>G (p.Gly141=)
c.*352A>G (n.*352A>G)
c.378+3295A>G
c.360A>G (p.Gly120=)
n.560A>G
n.753A>G
n.553A>G
14g.93218576A>TCA487594067UBR7c.651A>T (p.Gly217=)
c.423A>T (p.Gly141=)
c.*352A>T (n.*352A>T)
c.378+3295A>T
c.360A>T (p.Gly120=)
n.560A>T
n.753A>T
n.553A>T
14g.93218577A>CCA390810771UBR7c.652A>C (p.Ile218Leu)
c.424A>C (p.Ile142Leu)
c.*353A>C (n.*353A>C)
c.378+3296A>C
c.361A>C (p.Ile121Leu)
n.561A>C
n.754A>C
n.554A>C
14g.93218577A>GCA390810772UBR7c.652A>G (p.Ile218Val)
c.424A>G (p.Ile142Val)
c.*353A>G (n.*353A>G)
c.378+3296A>G
c.361A>G (p.Ile121Val)
n.561A>G
n.754A>G
n.554A>G
14g.93218577A>TCA390810774UBR7c.652A>T (p.Ile218Leu)
c.424A>T (p.Ile142Leu)
c.*353A>T (n.*353A>T)
c.378+3296A>T
c.361A>T (p.Ile121Leu)
n.561A>T
n.754A>T
n.554A>T
14g.93218578T>ACA390810776UBR7c.653T>A (p.Ile218Lys)
c.425T>A (p.Ile142Lys)
c.*354T>A (n.*354T>A)
c.378+3297T>A
c.362T>A (p.Ile121Lys)
n.562T>A
n.755T>A
n.555T>A
14g.93218578T>CCA7319901UBR7c.653T>C (p.Ile218Thr)
c.425T>C (p.Ile142Thr)
c.*354T>C (n.*354T>C)
c.378+3297T>C
c.362T>C (p.Ile121Thr)
n.562T>C
n.755T>C
n.555T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218578T>GCA390810779UBR7c.653T>G (p.Ile218Arg)
c.425T>G (p.Ile142Arg)
c.*354T>G (n.*354T>G)
c.378+3297T>G
c.362T>G (p.Ile121Arg)
n.562T>G
n.755T>G
n.555T>G
14g.93218578T=CA2155441034UBR7c.653T= (p.Ile218=)
c.425T= (p.Ile142=)
c.*354T= (n.*354T=)
c.378+3297T=
c.362T= (p.Ile121=)
n.562T=
n.755T=
n.555T=
14g.93218579A>CCA487594068UBR7c.654A>C (p.Ile218=)
c.426A>C (p.Ile142=)
c.*355A>C (n.*355A>C)
c.378+3298A>C
c.363A>C (p.Ile121=)
n.563A>C
n.756A>C
n.556A>C
14g.93218579A>GCA390810781UBR7c.654A>G (p.Ile218Met)
c.426A>G (p.Ile142Met)
c.*355A>G (n.*355A>G)
c.378+3298A>G
c.363A>G (p.Ile121Met)
n.563A>G
n.756A>G
n.556A>G
14g.93218579A>TCA487594069UBR7c.654A>T (p.Ile218=)
c.426A>T (p.Ile142=)
c.*355A>T (n.*355A>T)
c.378+3298A>T
c.363A>T (p.Ile121=)
n.563A>T
n.756A>T
n.556A>T
14g.93218580G>ACA390810787UBR7c.655G>A (p.Gly219Ser)
c.427G>A (p.Gly143Ser)
c.*356G>A (n.*356G>A)
c.378+3299G>A
c.364G>A (p.Gly122Ser)
n.564G>A
n.757G>A
n.557G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218580G>CCA390810785UBR7c.655G>C (p.Gly219Arg)
c.427G>C (p.Gly143Arg)
c.*356G>C (n.*356G>C)
c.378+3299G>C
c.364G>C (p.Gly122Arg)
n.564G>C
n.757G>C
n.557G>C
14g.93218580G=CA2155441035UBR7c.655G= (p.Gly219=)
c.427G= (p.Gly143=)
c.*356G= (n.*356G=)
c.378+3299G=
c.364G= (p.Gly122=)
n.564G=
n.757G=
n.557G=
14g.93218580G>TCA390810783UBR7c.655G>T (p.Gly219Cys)
c.427G>T (p.Gly143Cys)
c.*356G>T (n.*356G>T)
c.378+3299G>T
c.364G>T (p.Gly122Cys)
n.564G>T
n.757G>T
n.557G>T
14g.93218581G>ACA390810789UBR7c.656G>A (p.Gly219Asp)
c.428G>A (p.Gly143Asp)
c.*357G>A (n.*357G>A)
c.378+3300G>A
c.365G>A (p.Gly122Asp)
n.565G>A
n.758G>A
n.558G>A
14g.93218581G>CCA390810791UBR7c.656G>C (p.Gly219Ala)
c.428G>C (p.Gly143Ala)
c.*357G>C (n.*357G>C)
c.378+3300G>C
c.365G>C (p.Gly122Ala)
n.565G>C
n.758G>C
n.558G>C
14g.93218581G>TCA390810793UBR7c.656G>T (p.Gly219Val)
c.428G>T (p.Gly143Val)
c.*357G>T (n.*357G>T)
c.378+3300G>T
c.365G>T (p.Gly122Val)
n.565G>T
n.758G>T
n.558G>T
 gnomAD v4
14g.93218582T>ACA487594072UBR7c.657T>A (p.Gly219=)
c.429T>A (p.Gly143=)
c.*358T>A (n.*358T>A)
c.378+3301T>A
c.366T>A (p.Gly122=)
n.566T>A
n.759T>A
n.559T>A
14g.93218582T>CCA487594071UBR7c.657T>C (p.Gly219=)
c.429T>C (p.Gly143=)
c.*358T>C (n.*358T>C)
c.378+3301T>C
c.366T>C (p.Gly122=)
n.566T>C
n.759T>C
n.559T>C
14g.93218582T>GCA487594070UBR7c.657T>G (p.Gly219=)
c.429T>G (p.Gly143=)
c.*358T>G (n.*358T>G)
c.378+3301T>G
c.366T>G (p.Gly122=)
n.566T>G
n.759T>G
n.559T>G
14g.93218583G>ACA390810794UBR7c.658G>A (p.Asp220Asn)
c.430G>A (p.Asp144Asn)
c.*359G>A (n.*359G>A)
c.378+3302G>A
c.367G>A (p.Asp123Asn)
n.567G>A
n.760G>A
n.560G>A
 gnomAD v4
14g.93218583G>CCA390810796UBR7c.658G>C (p.Asp220His)
c.430G>C (p.Asp144His)
c.*359G>C (n.*359G>C)
c.378+3302G>C
c.367G>C (p.Asp123His)
n.567G>C
n.760G>C
n.560G>C
14g.93218583G=CA2155441036UBR7c.658G= (p.Asp220=)
c.430G= (p.Asp144=)
c.*359G= (n.*359G=)
c.378+3302G=
c.367G= (p.Asp123=)
n.567G=
n.760G=
n.560G=
14g.93218583G>TCA390810798UBR7c.658G>T (p.Asp220Tyr)
c.430G>T (p.Asp144Tyr)
c.*359G>T (n.*359G>T)
c.378+3302G>T
c.367G>T (p.Asp123Tyr)
n.567G>T
n.760G>T
n.560G>T
 dbSNP gnomAD v3 gnomAD v4
14g.93218584A>CCA390810800UBR7c.659A>C (p.Asp220Ala)
c.431A>C (p.Asp144Ala)
c.*360A>C (n.*360A>C)
c.378+3303A>C
c.368A>C (p.Asp123Ala)
n.568A>C
n.761A>C
n.561A>C
14g.93218584A>GCA390810802UBR7c.659A>G (p.Asp220Gly)
c.431A>G (p.Asp144Gly)
c.*360A>G (n.*360A>G)
c.378+3303A>G
c.368A>G (p.Asp123Gly)
n.568A>G
n.761A>G
n.561A>G
14g.93218584A>TCA390810804UBR7c.659A>T (p.Asp220Val)
c.431A>T (p.Asp144Val)
c.*360A>T (n.*360A>T)
c.378+3303A>T
c.368A>T (p.Asp123Val)
n.568A>T
n.761A>T
n.561A>T
14g.93218585T>ACA390810806UBR7c.660T>A (p.Asp220Glu)
c.432T>A (p.Asp144Glu)
c.*361T>A (n.*361T>A)
c.378+3304T>A
c.369T>A (p.Asp123Glu)
n.569T>A
n.762T>A
n.562T>A
14g.93218585T>CCA487594073UBR7c.660T>C (p.Asp220=)
c.432T>C (p.Asp144=)
c.*361T>C (n.*361T>C)
c.378+3304T>C
c.369T>C (p.Asp123=)
n.569T>C
n.762T>C
n.562T>C
14g.93218585T>GCA390810807UBR7c.660T>G (p.Asp220Glu)
c.432T>G (p.Asp144Glu)
c.*361T>G (n.*361T>G)
c.378+3304T>G
c.369T>G (p.Asp123Glu)
n.569T>G
n.762T>G
n.562T>G
14g.93218586C>ACA390810809UBR7c.661C>A (p.Gln221Lys)
c.433C>A (p.Gln145Lys)
c.*362C>A (n.*362C>A)
c.378+3305C>A
c.370C>A (p.Gln124Lys)
n.570C>A
n.763C>A
n.563C>A
14g.93218586C>GCA390810810UBR7c.661C>G (p.Gln221Glu)
c.433C>G (p.Gln145Glu)
c.*362C>G (n.*362C>G)
c.378+3305C>G
c.370C>G (p.Gln124Glu)
n.570C>G
n.763C>G
n.563C>G
14g.93218586C>TCA390810812UBR7c.661C>T (p.Gln221Ter)
c.433C>T (p.Gln145Ter)
c.*362C>T (n.*362C>T)
c.378+3305C>T
c.370C>T (p.Gln124Ter)
n.570C>T
n.763C>T
n.563C>T
14g.93218587A=CA2155441037UBR7c.662A= (p.Gln221=)
c.434A= (p.Gln145=)
c.*363A= (n.*363A=)
c.378+3306A=
c.371A= (p.Gln124=)
n.764A=
n.564A=
14g.93218587A>CCA390810816UBR7c.662A>C (p.Gln221Pro)
c.434A>C (p.Gln145Pro)
c.*363A>C (n.*363A>C)
c.378+3306A>C
c.371A>C (p.Gln124Pro)
n.764A>C
n.564A>C
14g.93218587A>GCA7319902UBR7c.662A>G (p.Gln221Arg)
c.434A>G (p.Gln145Arg)
c.*363A>G (n.*363A>G)
c.378+3306A>G
c.371A>G (p.Gln124Arg)
n.764A>G
n.564A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218587A>TCA390810815UBR7c.662A>T (p.Gln221Leu)
c.434A>T (p.Gln145Leu)
c.*363A>T (n.*363A>T)
c.378+3306A>T
c.371A>T (p.Gln124Leu)
n.764A>T
n.564A>T
14g.93218588G>ACA487594074UBR7c.663G>A (p.Gln221=)
c.435G>A (p.Gln145=)
c.*364G>A (n.*364G>A)
c.378+3307G>A
c.372G>A (p.Gln124=)
n.765G>A
n.565G>A
14g.93218588G>CCA390810819UBR7c.663G>C (p.Gln221His)
c.435G>C (p.Gln145His)
c.*364G>C (n.*364G>C)
c.378+3307G>C
c.372G>C (p.Gln124His)
n.765G>C
n.565G>C
14g.93218588G>TCA390810820UBR7c.663G>T (p.Gln221His)
c.435G>T (p.Gln145His)
c.*364G>T (n.*364G>T)
c.378+3307G>T
c.372G>T (p.Gln124His)
n.765G>T
n.565G>T
14g.93218589G>ACA390810822UBR7c.664G>A (p.Glu222Lys)
c.436G>A (p.Glu146Lys)
c.*365G>A (n.*365G>A)
c.378+3308G>A
c.373G>A (p.Glu125Lys)
n.766G>A
n.566G>A
 gnomAD v4
14g.93218589G>CCA390810823UBR7c.664G>C (p.Glu222Gln)
c.436G>C (p.Glu146Gln)
c.*365G>C (n.*365G>C)
c.378+3308G>C
c.373G>C (p.Glu125Gln)
n.766G>C
n.566G>C
14g.93218589G>TCA390810825UBR7c.664G>T (p.Glu222Ter)
c.436G>T (p.Glu146Ter)
c.*365G>T (n.*365G>T)
c.378+3308G>T
c.373G>T (p.Glu125Ter)
n.766G>T
n.566G>T
14g.93218589_93218598delinsGAAGTTATCACA2155441038UBR7c.664_673delinsGAAGTTATCA (p.Glu222=)
c.436_445delinsGAAGTTATCA (p.Glu146=)
c.*365_*374delinsGAAGTTATCA (n.*365_*374delinsGAAGTTATCA)
c.378+3308_378+3317delinsGAAGTTATCA
c.373_382delinsGAAGTTATCA (p.Glu125=)
n.766_775delinsGAAGTTATCA
n.566_575delinsGAAGTTATCA
14g.93218590A>CCA390810828UBR7c.665A>C (p.Glu222Ala)
c.437A>C (p.Glu146Ala)
c.*366A>C (n.*366A>C)
c.378+3309A>C
c.374A>C (p.Glu125Ala)
n.767A>C
n.567A>C
14g.93218590A>GCA390810829UBR7c.665A>G (p.Glu222Gly)
c.437A>G (p.Glu146Gly)
c.*366A>G (n.*366A>G)
c.378+3309A>G
c.374A>G (p.Glu125Gly)
n.767A>G
n.567A>G
14g.93218590A>TCA390810831UBR7c.665A>T (p.Glu222Val)
c.437A>T (p.Glu146Val)
c.*366A>T (n.*366A>T)
c.378+3309A>T
c.374A>T (p.Glu125Val)
n.767A>T
n.567A>T
14g.93218592_93218600delCA616113852UBR7c.667_675del (p.Val223_Lys225del)
c.439_447del (p.Val147_Lys149del)
c.*368_*376del (n.*368_*376del)
c.378+3311_378+3319del
c.376_384del (p.Val126_Lys128del)
n.769_777del
n.569_577del
 dbSNP gnomAD v2 gnomAD v4
14g.93218591A>CCA390810833UBR7c.666A>C (p.Glu222Asp)
c.438A>C (p.Glu146Asp)
c.*367A>C (n.*367A>C)
c.378+3310A>C
c.375A>C (p.Glu125Asp)
n.768A>C
n.568A>C
14g.93218591A>GCA487594075UBR7c.666A>G (p.Glu222=)
c.438A>G (p.Glu146=)
c.*367A>G (n.*367A>G)
c.378+3310A>G
c.375A>G (p.Glu125=)
n.768A>G
n.568A>G
14g.93218591A>TCA390810835UBR7c.666A>T (p.Glu222Asp)
c.438A>T (p.Glu146Asp)
c.*367A>T (n.*367A>T)
c.378+3310A>T
c.375A>T (p.Glu125Asp)
n.768A>T
n.568A>T
14g.93218592G>ACA390810837UBR7c.667G>A (p.Val223Ile)
c.439G>A (p.Val147Ile)
c.*368G>A (n.*368G>A)
c.378+3311G>A
c.376G>A (p.Val126Ile)
n.769G>A
n.569G>A
14g.93218592G>CCA390810838UBR7c.667G>C (p.Val223Leu)
c.439G>C (p.Val147Leu)
c.*368G>C (n.*368G>C)
c.378+3311G>C
c.376G>C (p.Val126Leu)
n.769G>C
n.569G>C
14g.93218592G>TCA390810841UBR7c.667G>T (p.Val223Phe)
c.439G>T (p.Val147Phe)
c.*368G>T (n.*368G>T)
c.378+3311G>T
c.376G>T (p.Val126Phe)
n.769G>T
n.569G>T
14g.93218593T>ACA390810843UBR7c.668T>A (p.Val223Asp)
c.440T>A (p.Val147Asp)
c.*369T>A (n.*369T>A)
c.378+3312T>A
c.377T>A (p.Val126Asp)
n.770T>A
n.570T>A
14g.93218593T>CCA390810847UBR7c.668T>C (p.Val223Ala)
c.440T>C (p.Val147Ala)
c.*369T>C (n.*369T>C)
c.378+3312T>C
c.377T>C (p.Val126Ala)
n.770T>C
n.570T>C
14g.93218593T>GCA390810845UBR7c.668T>G (p.Val223Gly)
c.440T>G (p.Val147Gly)
c.*369T>G (n.*369T>G)
c.378+3312T>G
c.377T>G (p.Val126Gly)
n.770T>G
n.570T>G
14g.93218594T>ACA487594076UBR7c.669T>A (p.Val223=)
c.441T>A (p.Val147=)
c.*370T>A (n.*370T>A)
c.378+3313T>A
c.378T>A (p.Val126=)
n.771T>A
n.571T>A
14g.93218594T>CCA7319903UBR7c.669T>C (p.Val223=)
c.441T>C (p.Val147=)
c.*370T>C (n.*370T>C)
c.378+3313T>C
c.378T>C (p.Val126=)
n.771T>C
n.571T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218594T>GCA487594077UBR7c.669T>G (p.Val223=)
c.441T>G (p.Val147=)
c.*370T>G (n.*370T>G)
c.378+3313T>G
c.378T>G (p.Val126=)
n.771T>G
n.571T>G
14g.93218594T=CA2155441039UBR7c.669T= (p.Val223=)
c.441T= (p.Val147=)
c.*370T= (n.*370T=)
c.378+3313T=
c.378T= (p.Val126=)
n.771T=
n.571T=
14g.93218595A>CCA390810850UBR7c.670A>C (p.Ile224Leu)
c.442A>C (p.Ile148Leu)
c.*371A>C (n.*371A>C)
c.378+3314A>C
c.379A>C (p.Ile127Leu)
n.772A>C
n.572A>C
14g.93218595A>GCA390810852UBR7c.670A>G (p.Ile224Val)
c.442A>G (p.Ile148Val)
c.*371A>G (n.*371A>G)
c.378+3314A>G
c.379A>G (p.Ile127Val)
n.772A>G
n.572A>G
14g.93218595A>TCA390810853UBR7c.670A>T (p.Ile224Phe)
c.442A>T (p.Ile148Phe)
c.*371A>T (n.*371A>T)
c.378+3314A>T
c.379A>T (p.Ile127Phe)
n.772A>T
n.572A>T
14g.93218596T>ACA390810856UBR7c.671T>A (p.Ile224Asn)
c.443T>A (p.Ile148Asn)
c.*372T>A (n.*372T>A)
c.378+3315T>A
c.380T>A (p.Ile127Asn)
n.773T>A
n.573T>A
14g.93218596T>CCA7319904UBR7c.671T>C (p.Ile224Thr)
c.443T>C (p.Ile148Thr)
c.*372T>C (n.*372T>C)
c.378+3315T>C
c.380T>C (p.Ile127Thr)
n.773T>C
n.573T>C
 dbSNP ExAC gnomAD v3 gnomAD v4
14g.93218596T>GCA390810858UBR7c.671T>G (p.Ile224Ser)
c.443T>G (p.Ile148Ser)
c.*372T>G (n.*372T>G)
c.378+3315T>G
c.380T>G (p.Ile127Ser)
n.773T>G
n.573T>G
14g.93218596T=CA2155441040UBR7c.671T= (p.Ile224=)
c.443T= (p.Ile148=)
c.*372T= (n.*372T=)
c.378+3315T=
c.380T= (p.Ile127=)
n.773T=
n.573T=
14g.93218597C>ACA487594078UBR7c.672C>A (p.Ile224=)
c.444C>A (p.Ile148=)
c.*373C>A (n.*373C>A)
c.378+3316C>A
c.381C>A (p.Ile127=)
n.774C>A
n.574C>A
14g.93218597C>GCA390810861UBR7c.672C>G (p.Ile224Met)
c.444C>G (p.Ile148Met)
c.*373C>G (n.*373C>G)
c.378+3316C>G
c.381C>G (p.Ile127Met)
n.774C>G
n.574C>G
14g.93218597C>TCA487594079UBR7c.672C>T (p.Ile224=)
c.444C>T (p.Ile148=)
c.*373C>T (n.*373C>T)
c.378+3316C>T
c.381C>T (p.Ile127=)
n.774C>T
n.574C>T
14g.93218598A>CCA390810863UBR7c.673A>C (p.Lys225Gln)
c.445A>C (p.Lys149Gln)
c.*374A>C (n.*374A>C)
c.378+3317A>C
c.382A>C (p.Lys128Gln)
n.775A>C
n.575A>C
14g.93218598A>GCA390810864UBR7c.673A>G (p.Lys225Glu)
c.445A>G (p.Lys149Glu)
c.*374A>G (n.*374A>G)
c.378+3317A>G
c.382A>G (p.Lys128Glu)
n.775A>G
n.575A>G
14g.93218598A>TCA390810865UBR7c.673A>T (p.Lys225Ter)
c.445A>T (p.Lys149Ter)
c.*374A>T (n.*374A>T)
c.378+3317A>T
c.382A>T (p.Lys128Ter)
n.775A>T
n.575A>T
14g.93218599A=CA2155441041UBR7c.674A= (p.Lys225=)
c.446A= (p.Lys149=)
c.*375A= (n.*375A=)
c.378+3318A=
c.383A= (p.Lys128=)
n.776A=
n.576A=
14g.93218599A>CCA390810870UBR7c.674A>C (p.Lys225Thr)
c.446A>C (p.Lys149Thr)
c.*375A>C (n.*375A>C)
c.378+3318A>C
c.383A>C (p.Lys128Thr)
n.776A>C
n.576A>C
14g.93218599A>GCA7319905UBR7c.674A>G (p.Lys225Arg)
c.446A>G (p.Lys149Arg)
c.*375A>G (n.*375A>G)
c.378+3318A>G
c.383A>G (p.Lys128Arg)
n.776A>G
n.576A>G
 dbSNP ExAC gnomAD v2
14g.93218599A>TCA390810868UBR7c.674A>T (p.Lys225Ile)
c.446A>T (p.Lys149Ile)
c.*375A>T (n.*375A>T)
c.378+3318A>T
c.383A>T (p.Lys128Ile)
n.776A>T
n.576A>T
14g.93218600A>CCA390810875UBR7c.675A>C (p.Lys225Asn)
c.447A>C (p.Lys149Asn)
c.*376A>C (n.*376A>C)
c.378+3319A>C
c.384A>C (p.Lys128Asn)
n.777A>C
n.577A>C
14g.93218600A>GCA487594080UBR7c.675A>G (p.Lys225=)
c.447A>G (p.Lys149=)
c.*376A>G (n.*376A>G)
c.378+3319A>G
c.384A>G (p.Lys128=)
n.777A>G
n.577A>G
 COSMIC
14g.93218600A>TCA390810873UBR7c.675A>T (p.Lys225Asn)
c.447A>T (p.Lys149Asn)
c.*376A>T (n.*376A>T)
c.378+3319A>T
c.384A>T (p.Lys128Asn)
n.777A>T
n.577A>T
14g.93218601C>ACA390810881UBR7c.676C>A (p.Pro226Thr)
c.448C>A (p.Pro150Thr)
c.*377C>A (n.*377C>A)
c.378+3320C>A
c.385C>A (p.Pro129Thr)
n.778C>A
n.578C>A
14g.93218601C>GCA390810878UBR7c.676C>G (p.Pro226Ala)
c.448C>G (p.Pro150Ala)
c.*377C>G (n.*377C>G)
c.378+3320C>G
c.385C>G (p.Pro129Ala)
n.778C>G
n.578C>G
14g.93218601C>TCA390810879UBR7c.676C>T (p.Pro226Ser)
c.448C>T (p.Pro150Ser)
c.*377C>T (n.*377C>T)
c.378+3320C>T
c.385C>T (p.Pro129Ser)
n.778C>T
n.578C>T
14g.93218602C>ACA390810883UBR7c.677C>A (p.Pro226His)
c.449C>A (p.Pro150His)
c.*378C>A (n.*378C>A)
c.378+3321C>A
c.386C>A (p.Pro129His)
n.779C>A
n.579C>A
14g.93218602C=CA2155441042UBR7c.677C= (p.Pro226=)
c.449C= (p.Pro150=)
c.*378C= (n.*378C=)
c.378+3321C=
c.386C= (p.Pro129=)
n.779C=
n.579C=
14g.93218602C>GCA390810885UBR7c.677C>G (p.Pro226Arg)
c.449C>G (p.Pro150Arg)
c.*378C>G (n.*378C>G)
c.378+3321C>G
c.386C>G (p.Pro129Arg)
n.779C>G
n.579C>G
14g.93218602C>TCA7319906UBR7c.677C>T (p.Pro226Leu)
c.449C>T (p.Pro150Leu)
c.*378C>T (n.*378C>T)
c.378+3321C>T
c.386C>T (p.Pro129Leu)
n.779C>T
n.579C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218603T>ACA487594081UBR7c.678T>A (p.Pro226=)
c.450T>A (p.Pro150=)
c.*379T>A (n.*379T>A)
c.378+3322T>A
c.387T>A (p.Pro129=)
n.780T>A
n.580T>A
14g.93218603T>CCA487594082UBR7c.678T>C (p.Pro226=)
c.450T>C (p.Pro150=)
c.*379T>C (n.*379T>C)
c.378+3322T>C
c.387T>C (p.Pro129=)
n.780T>C
n.580T>C
14g.93218603T>GCA487594083UBR7c.678T>G (p.Pro226=)
c.450T>G (p.Pro150=)
c.*379T>G (n.*379T>G)
c.378+3322T>G
c.387T>G (p.Pro129=)
n.780T>G
n.580T>G
14g.93218604G>ACA390810888UBR7c.679G>A (p.Glu227Lys)
c.451G>A (p.Glu151Lys)
c.*380G>A (n.*380G>A)
c.378+3323G>A
c.388G>A (p.Glu130Lys)
n.781G>A
n.581G>A
14g.93218604G>CCA390810889UBR7c.679G>C (p.Glu227Gln)
c.451G>C (p.Glu151Gln)
c.*380G>C (n.*380G>C)
c.378+3323G>C
c.388G>C (p.Glu130Gln)
n.781G>C
n.581G>C
14g.93218604G>TCA390810890UBR7c.679G>T (p.Glu227Ter)
c.451G>T (p.Glu151Ter)
c.*380G>T (n.*380G>T)
c.378+3323G>T
c.388G>T (p.Glu130Ter)
n.781G>T
n.581G>T
14g.93218605A>CCA390810892UBR7c.680A>C (p.Glu227Ala)
c.452A>C (p.Glu151Ala)
c.*381A>C (n.*381A>C)
c.378+3324A>C
c.389A>C (p.Glu130Ala)
n.782A>C
n.582A>C
14g.93218605A>GCA390810894UBR7c.680A>G (p.Glu227Gly)
c.452A>G (p.Glu151Gly)
c.*381A>G (n.*381A>G)
c.378+3324A>G
c.389A>G (p.Glu130Gly)
n.782A>G
n.582A>G
 gnomAD v4
14g.93218605A>TCA390810895UBR7c.680A>T (p.Glu227Val)
c.452A>T (p.Glu151Val)
c.*381A>T (n.*381A>T)
c.378+3324A>T
c.389A>T (p.Glu130Val)
n.782A>T
n.582A>T
14g.93218606A>CCA390810897UBR7c.681A>C (p.Glu227Asp)
c.453A>C (p.Glu151Asp)
c.*382A>C (n.*382A>C)
c.378+3325A>C
c.390A>C (p.Glu130Asp)
n.783A>C
n.583A>C
14g.93218606A>GCA487594084UBR7c.681A>G (p.Glu227=)
c.453A>G (p.Glu151=)
c.*382A>G (n.*382A>G)
c.378+3325A>G
c.390A>G (p.Glu130=)
n.783A>G
n.583A>G
14g.93218606A>TCA390810899UBR7c.681A>T (p.Glu227Asp)
c.453A>T (p.Glu151Asp)
c.*382A>T (n.*382A>T)
c.378+3325A>T
c.390A>T (p.Glu130Asp)
n.783A>T
n.583A>T
14g.93218607A>CCA390810905UBR7c.682A>C (p.Asn228His)
c.454A>C (p.Asn152His)
c.*383A>C (n.*383A>C)
c.378+3326A>C
c.391A>C (p.Asn131His)
n.784A>C
n.584A>C
14g.93218607A>GCA390810904UBR7c.682A>G (p.Asn228Asp)
c.454A>G (p.Asn152Asp)
c.*383A>G (n.*383A>G)
c.378+3326A>G
c.391A>G (p.Asn131Asp)
n.784A>G
n.584A>G
14g.93218607A>TCA390810902UBR7c.682A>T (p.Asn228Tyr)
c.454A>T (p.Asn152Tyr)
c.*383A>T (n.*383A>T)
c.378+3326A>T
c.391A>T (p.Asn131Tyr)
n.784A>T
n.584A>T
14g.93218608A>CCA390810908UBR7c.683A>C (p.Asn228Thr)
c.455A>C (p.Asn152Thr)
c.*384A>C (n.*384A>C)
c.378+3327A>C
c.392A>C (p.Asn131Thr)
n.785A>C
n.585A>C
14g.93218608A>GCA390810909UBR7c.683A>G (p.Asn228Ser)
c.455A>G (p.Asn152Ser)
c.*384A>G (n.*384A>G)
c.378+3327A>G
c.392A>G (p.Asn131Ser)
n.785A>G
n.585A>G
 gnomAD v4
14g.93218608A>TCA390810911UBR7c.683A>T (p.Asn228Ile)
c.455A>T (p.Asn152Ile)
c.*384A>T (n.*384A>T)
c.378+3327A>T
c.392A>T (p.Asn131Ile)
n.785A>T
n.585A>T
14g.93218609T>ACA390810913UBR7c.684T>A (p.Asn228Lys)
c.456T>A (p.Asn152Lys)
c.*385T>A (n.*385T>A)
c.378+3328T>A
c.393T>A (p.Asn131Lys)
n.786T>A
n.586T>A
14g.93218609T>CCA487594086UBR7c.684T>C (p.Asn228=)
c.456T>C (p.Asn152=)
c.*385T>C (n.*385T>C)
c.378+3328T>C
c.393T>C (p.Asn131=)
n.786T>C
n.586T>C
14g.93218609T>GCA390810914UBR7c.684T>G (p.Asn228Lys)
c.456T>G (p.Asn152Lys)
c.*385T>G (n.*385T>G)
c.378+3328T>G
c.393T>G (p.Asn131Lys)
n.786T>G
n.586T>G
14g.93218610G>ACA390810917UBR7c.685G>A (p.Gly229Arg)
c.457G>A (p.Gly153Arg)
c.*386G>A (n.*386G>A)
c.378+3329G>A
c.394G>A (p.Gly132Arg)
n.787G>A
n.587G>A
14g.93218610G>CCA390810918UBR7c.685G>C (p.Gly229Arg)
c.457G>C (p.Gly153Arg)
c.*386G>C (n.*386G>C)
c.378+3329G>C
c.394G>C (p.Gly132Arg)
n.787G>C
n.587G>C
14g.93218610G>TCA390810921UBR7c.685G>T (p.Gly229Ter)
c.457G>T (p.Gly153Ter)
c.*386G>T (n.*386G>T)
c.378+3329G>T
c.394G>T (p.Gly132Ter)
n.787G>T
n.587G>T
14g.93218611G>ACA390810922UBR7c.686G>A (p.Gly229Glu)
c.458G>A (p.Gly153Glu)
c.*387G>A (n.*387G>A)
c.378+3330G>A
c.395G>A (p.Gly132Glu)
n.788G>A
n.588G>A
 gnomAD v4
14g.93218611G>CCA390810924UBR7c.686G>C (p.Gly229Ala)
c.458G>C (p.Gly153Ala)
c.*387G>C (n.*387G>C)
c.378+3330G>C
c.395G>C (p.Gly132Ala)
n.788G>C
n.588G>C
14g.93218611G>TCA390810926UBR7c.686G>T (p.Gly229Val)
c.458G>T (p.Gly153Val)
c.*387G>T (n.*387G>T)
c.378+3330G>T
c.395G>T (p.Gly132Val)
n.788G>T
n.588G>T
 COSMIC
14g.93218612A>CCA487594087UBR7c.687A>C (p.Gly229=)
c.459A>C (p.Gly153=)
c.*388A>C (n.*388A>C)
c.378+3331A>C
c.396A>C (p.Gly132=)
n.789A>C
n.589A>C
14g.93218612A>GCA487594088UBR7c.687A>G (p.Gly229=)
c.459A>G (p.Gly153=)
c.*388A>G (n.*388A>G)
c.378+3331A>G
c.396A>G (p.Gly132=)
n.789A>G
n.589A>G
14g.93218612A>TCA487594089UBR7c.687A>T (p.Gly229=)
c.459A>T (p.Gly153=)
c.*388A>T (n.*388A>T)
c.378+3331A>T
c.396A>T (p.Gly132=)
n.789A>T
n.589A>T
14g.93218613G>ACA7319907UBR7c.688G>A (p.Glu230Lys)
c.460G>A (p.Glu154Lys)
c.*389G>A (n.*389G>A)
c.378+3332G>A
c.397G>A (p.Glu133Lys)
n.790G>A
n.590G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218613G>CCA390810929UBR7c.688G>C (p.Glu230Gln)
c.460G>C (p.Glu154Gln)
c.*389G>C (n.*389G>C)
c.378+3332G>C
c.397G>C (p.Glu133Gln)
n.790G>C
n.590G>C
14g.93218613G=CA2155441043UBR7c.688G= (p.Glu230=)
c.460G= (p.Glu154=)
c.*389G= (n.*389G=)
c.378+3332G=
c.397G= (p.Glu133=)
n.790G=
n.590G=
14g.93218613G>TCA390810931UBR7c.688G>T (p.Glu230Ter)
c.460G>T (p.Glu154Ter)
c.*389G>T (n.*389G>T)
c.378+3332G>T
c.397G>T (p.Glu133Ter)
n.790G>T
n.590G>T
14g.93218614A>CCA390810935UBR7c.689A>C (p.Glu230Ala)
c.461A>C (p.Glu154Ala)
c.*390A>C (n.*390A>C)
c.378+3333A>C
c.398A>C (p.Glu133Ala)
n.791A>C
n.591A>C
14g.93218614A>GCA390810937UBR7c.689A>G (p.Glu230Gly)
c.461A>G (p.Glu154Gly)
c.*390A>G (n.*390A>G)
c.378+3333A>G
c.398A>G (p.Glu133Gly)
n.791A>G
n.591A>G
14g.93218614A>TCA390810933UBR7c.689A>T (p.Glu230Val)
c.461A>T (p.Glu154Val)
c.*390A>T (n.*390A>T)
c.378+3333A>T
c.398A>T (p.Glu133Val)
n.791A>T
n.591A>T
14g.93218615G>ACA487594090UBR7c.690G>A (p.Glu230=)
c.462G>A (p.Glu154=)
c.*391G>A (n.*391G>A)
c.378+3334G>A
c.399G>A (p.Glu133=)
n.792G>A
n.592G>A
 COSMIC
14g.93218615G>CCA390810939UBR7c.690G>C (p.Glu230Asp)
c.462G>C (p.Glu154Asp)
c.*391G>C (n.*391G>C)
c.378+3334G>C
c.399G>C (p.Glu133Asp)
n.792G>C
n.592G>C
14g.93218615G>TCA390810941UBR7c.690G>T (p.Glu230Asp)
c.462G>T (p.Glu154Asp)
c.*391G>T (n.*391G>T)
c.378+3334G>T
c.399G>T (p.Glu133Asp)
n.792G>T
n.592G>T
14g.93218616C>ACA7319908UBR7c.691C>A (p.His231Asn)
c.463C>A (p.His155Asn)
c.*392C>A (n.*392C>A)
c.378+3335C>A
c.400C>A (p.His134Asn)
n.793C>A
n.593C>A
 dbSNP ExAC
14g.93218616C=CA2155441044UBR7c.691C= (p.His231=)
c.463C= (p.His155=)
c.*392C= (n.*392C=)
c.378+3335C=
c.400C= (p.His134=)
n.793C=
n.593C=
14g.93218616C>GCA390810943UBR7c.691C>G (p.His231Asp)
c.463C>G (p.His155Asp)
c.*392C>G (n.*392C>G)
c.378+3335C>G
c.400C>G (p.His134Asp)
n.793C>G
n.593C>G
14g.93218616C>TCA390810945UBR7c.691C>T (p.His231Tyr)
c.463C>T (p.His155Tyr)
c.*392C>T (n.*392C>T)
c.378+3335C>T
c.400C>T (p.His134Tyr)
n.793C>T
n.593C>T
14g.93218617A>CCA390810947UBR7c.692A>C (p.His231Pro)
c.464A>C (p.His155Pro)
c.*393A>C (n.*393A>C)
c.378+3336A>C
c.401A>C (p.His134Pro)
n.794A>C
n.594A>C
14g.93218617A>GCA390810949UBR7c.692A>G (p.His231Arg)
c.464A>G (p.His155Arg)
c.*393A>G (n.*393A>G)
c.378+3336A>G
c.401A>G (p.His134Arg)
n.794A>G
n.594A>G
14g.93218617A>TCA390810951UBR7c.692A>T (p.His231Leu)
c.464A>T (p.His155Leu)
c.*393A>T (n.*393A>T)
c.378+3336A>T
c.401A>T (p.His134Leu)
n.794A>T
n.594A>T
14g.93218618T>ACA390810952UBR7c.693T>A (p.His231Gln)
c.465T>A (p.His155Gln)
c.*394T>A (n.*394T>A)
c.378+3337T>A
c.402T>A (p.His134Gln)
n.795T>A
n.595T>A
14g.93218618T>CCA487594091UBR7c.693T>C (p.His231=)
c.465T>C (p.His155=)
c.*394T>C (n.*394T>C)
c.378+3337T>C
c.402T>C (p.His134=)
n.795T>C
n.595T>C
14g.93218618T>GCA390810953UBR7c.693T>G (p.His231Gln)
c.465T>G (p.His155Gln)
c.*394T>G (n.*394T>G)
c.378+3337T>G
c.402T>G (p.His134Gln)
n.795T>G
n.595T>G
14g.93218619C>ACA390810954UBR7c.694C>A (p.Gln232Lys)
c.466C>A (p.Gln156Lys)
c.*395C>A (n.*395C>A)
c.378+3338C>A
c.403C>A (p.Gln135Lys)
n.796C>A
n.596C>A
14g.93218619C=CA2155441045UBR7c.694C= (p.Gln232=)
c.466C= (p.Gln156=)
c.*395C= (n.*395C=)
c.378+3338C=
c.403C= (p.Gln135=)
n.796C=
n.596C=
14g.93218619C>GCA390810955UBR7c.694C>G (p.Gln232Glu)
c.466C>G (p.Gln156Glu)
c.*395C>G (n.*395C>G)
c.378+3338C>G
c.403C>G (p.Gln135Glu)
n.796C>G
n.596C>G
 dbSNP gnomAD v2 gnomAD v4
14g.93218619C>TCA390810956UBR7c.694C>T (p.Gln232Ter)
c.466C>T (p.Gln156Ter)
c.*395C>T (n.*395C>T)
c.378+3338C>T
c.403C>T (p.Gln135Ter)
n.796C>T
n.596C>T
14g.93218620A>CCA390810957UBR7c.695A>C (p.Gln232Pro)
c.467A>C (p.Gln156Pro)
c.*396A>C (n.*396A>C)
c.378+3339A>C
c.404A>C (p.Gln135Pro)
n.797A>C
n.597A>C
14g.93218620A>GCA390810959UBR7c.695A>G (p.Gln232Arg)
c.467A>G (p.Gln156Arg)
c.*396A>G (n.*396A>G)
c.378+3339A>G
c.404A>G (p.Gln135Arg)
n.797A>G
n.597A>G
14g.93218620A>TCA390810958UBR7c.695A>T (p.Gln232Leu)
c.467A>T (p.Gln156Leu)
c.*396A>T (n.*396A>T)
c.378+3339A>T
c.404A>T (p.Gln135Leu)
n.797A>T
n.597A>T
14g.93218621A>CCA390810960UBR7c.696A>C (p.Gln232His)
c.468A>C (p.Gln156His)
c.*397A>C (n.*397A>C)
c.378+3340A>C
c.405A>C (p.Gln135His)
n.798A>C
n.598A>C
14g.93218621A>GCA487594092UBR7c.696A>G (p.Gln232=)
c.468A>G (p.Gln156=)
c.*397A>G (n.*397A>G)
c.378+3340A>G
c.405A>G (p.Gln135=)
n.798A>G
n.598A>G
 gnomAD v4
14g.93218621A>TCA390810961UBR7c.696A>T (p.Gln232His)
c.468A>T (p.Gln156His)
c.*397A>T (n.*397A>T)
c.378+3340A>T
c.405A>T (p.Gln135His)
n.798A>T
n.598A>T
14g.93218622G>ACA390810962UBR7c.697G>A (p.Asp233Asn)
c.469G>A (p.Asp157Asn)
c.*398G>A (n.*398G>A)
c.378+3341G>A
c.406G>A (p.Asp136Asn)
n.799G>A
n.599G>A
 gnomAD v4
14g.93218622G>CCA390810963UBR7c.697G>C (p.Asp233His)
c.469G>C (p.Asp157His)
c.*398G>C (n.*398G>C)
c.378+3341G>C
c.406G>C (p.Asp136His)
n.799G>C
n.599G>C
14g.93218622G>TCA390810964UBR7c.697G>T (p.Asp233Tyr)
c.469G>T (p.Asp157Tyr)
c.*398G>T (n.*398G>T)
c.378+3341G>T
c.406G>T (p.Asp136Tyr)
n.799G>T
n.599G>T
 gnomAD v4
14g.93218623A=CA2155441046UBR7c.698A= (p.Asp233=)
c.470A= (p.Asp157=)
c.*399A= (n.*399A=)
c.378+3342A=
c.407A= (p.Asp136=)
n.800A=
n.600A=
14g.93218623A>CCA390810965UBR7c.698A>C (p.Asp233Ala)
c.470A>C (p.Asp157Ala)
c.*399A>C (n.*399A>C)
c.378+3342A>C
c.407A>C (p.Asp136Ala)
n.800A>C
n.600A>C
14g.93218623A>GCA265761461UBR7c.698A>G (p.Asp233Gly)
c.470A>G (p.Asp157Gly)
c.*399A>G (n.*399A>G)
c.378+3342A>G
c.407A>G (p.Asp136Gly)
n.800A>G
n.600A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.93218623A>TCA390810966UBR7c.698A>T (p.Asp233Val)
c.470A>T (p.Asp157Val)
c.*399A>T (n.*399A>T)
c.378+3342A>T
c.407A>T (p.Asp136Val)
n.800A>T
n.600A>T
14g.93218624T>ACA390810967UBR7c.699T>A (p.Asp233Glu)
c.471T>A (p.Asp157Glu)
c.*400T>A (n.*400T>A)
c.378+3343T>A
c.408T>A (p.Asp136Glu)
n.801T>A
n.601T>A
14g.93218624T>CCA487594093UBR7c.699T>C (p.Asp233=)
c.471T>C (p.Asp157=)
c.*400T>C (n.*400T>C)
c.378+3343T>C
c.408T>C (p.Asp136=)
n.801T>C
n.601T>C
14g.93218624T>GCA390810968UBR7c.699T>G (p.Asp233Glu)
c.471T>G (p.Asp157Glu)
c.*400T>G (n.*400T>G)
c.378+3343T>G
c.408T>G (p.Asp136Glu)
n.801T>G
n.601T>G
14g.93218625A>CCA390810971UBR7c.700A>C (p.Ser234Arg)
c.472A>C (p.Ser158Arg)
c.*401A>C (n.*401A>C)
c.378+3344A>C
c.409A>C (p.Ser137Arg)
n.802A>C
n.602A>C
14g.93218625A>GCA390810970UBR7c.700A>G (p.Ser234Gly)
c.472A>G (p.Ser158Gly)
c.*401A>G (n.*401A>G)
c.378+3344A>G
c.409A>G (p.Ser137Gly)
n.802A>G
n.602A>G
14g.93218625A>TCA390810969UBR7c.700A>T (p.Ser234Cys)
c.472A>T (p.Ser158Cys)
c.*401A>T (n.*401A>T)
c.378+3344A>T
c.409A>T (p.Ser137Cys)
n.802A>T
n.602A>T
14g.93218626G>ACA390810972UBR7c.701G>A (p.Ser234Asn)
c.473G>A (p.Ser158Asn)
c.*402G>A (n.*402G>A)
c.378+3345G>A
c.410G>A (p.Ser137Asn)
n.803G>A
n.603G>A
14g.93218626G>CCA390810974UBR7c.701G>C (p.Ser234Thr)
c.473G>C (p.Ser158Thr)
c.*402G>C (n.*402G>C)
c.378+3345G>C
c.410G>C (p.Ser137Thr)
n.803G>C
n.603G>C
14g.93218626G>TCA390810973UBR7c.701G>T (p.Ser234Ile)
c.473G>T (p.Ser158Ile)
c.*402G>T (n.*402G>T)
c.378+3345G>T
c.410G>T (p.Ser137Ile)
n.803G>T
n.603G>T
14g.93218627T>ACA390810975UBR7c.702T>A (p.Ser234Arg)
c.474T>A (p.Ser158Arg)
c.*403T>A (n.*403T>A)
c.378+3346T>A
c.411T>A (p.Ser137Arg)
n.804T>A
n.604T>A
14g.93218627T>CCA487594094UBR7c.702T>C (p.Ser234=)
c.474T>C (p.Ser158=)
c.*403T>C (n.*403T>C)
c.378+3346T>C
c.411T>C (p.Ser137=)
n.804T>C
n.604T>C
 gnomAD v4
14g.93218627T>GCA390810976UBR7c.702T>G (p.Ser234Arg)
c.474T>G (p.Ser158Arg)
c.*403T>G (n.*403T>G)
c.378+3346T>G
c.411T>G (p.Ser137Arg)
n.804T>G
n.604T>G
14g.93218628A>CCA390810977UBR7c.703A>C (p.Thr235Pro)
c.475A>C (p.Thr159Pro)
c.*404A>C (n.*404A>C)
c.378+3347A>C
c.412A>C (p.Thr138Pro)
n.805A>C
n.605A>C
14g.93218628A>GCA390810978UBR7c.703A>G (p.Thr235Ala)
c.475A>G (p.Thr159Ala)
c.*404A>G (n.*404A>G)
c.378+3347A>G
c.412A>G (p.Thr138Ala)
n.805A>G
n.605A>G
14g.93218628A>TCA390810979UBR7c.703A>T (p.Thr235Ser)
c.475A>T (p.Thr159Ser)
c.*404A>T (n.*404A>T)
c.378+3347A>T
c.412A>T (p.Thr138Ser)
n.805A>T
n.605A>T
14g.93218629C>ACA390810980UBR7c.704C>A (p.Thr235Asn)
c.476C>A (p.Thr159Asn)
c.*405C>A (n.*405C>A)
c.378+3348C>A
c.413C>A (p.Thr138Asn)
n.806C>A
n.606C>A
14g.93218629C>GCA390810981UBR7c.704C>G (p.Thr235Ser)
c.476C>G (p.Thr159Ser)
c.*405C>G (n.*405C>G)
c.378+3348C>G
c.413C>G (p.Thr138Ser)
n.806C>G
n.606C>G
14g.93218629C>TCA390810982UBR7c.704C>T (p.Thr235Ile)
c.476C>T (p.Thr159Ile)
c.*405C>T (n.*405C>T)
c.378+3348C>T
c.413C>T (p.Thr138Ile)
n.806C>T
n.606C>T
 gnomAD v4
14g.93218630C>ACA487594097UBR7c.705C>A (p.Thr235=)
c.477C>A (p.Thr159=)
c.*406C>A (n.*406C>A)
c.378+3349C>A
c.414C>A (p.Thr138=)
n.807C>A
n.607C>A
14g.93218630C>GCA487594095UBR7c.705C>G (p.Thr235=)
c.477C>G (p.Thr159=)
c.*406C>G (n.*406C>G)
c.378+3349C>G
c.414C>G (p.Thr138=)
n.807C>G
n.607C>G
14g.93218630C>TCA487594096UBR7c.705C>T (p.Thr235=)
c.477C>T (p.Thr159=)
c.*406C>T (n.*406C>T)
c.378+3349C>T
c.414C>T (p.Thr138=)
n.807C>T
n.607C>T
 gnomAD v4
14g.93218631C>ACA390810983UBR7c.706C>A (p.Leu236Ile)
c.478C>A (p.Leu160Ile)
c.*407C>A (n.*407C>A)
c.378+3350C>A
c.415C>A (p.Leu139Ile)
n.808C>A
n.608C>A
14g.93218631C=CA2155441047UBR7c.706C= (p.Leu236=)
c.478C= (p.Leu160=)
c.*407C= (n.*407C=)
c.378+3350C=
c.415C= (p.Leu139=)
n.808C=
n.608C=
14g.93218631C>GCA390810984UBR7c.706C>G (p.Leu236Val)
c.478C>G (p.Leu160Val)
c.*407C>G (n.*407C>G)
c.378+3350C>G
c.415C>G (p.Leu139Val)
n.808C>G
n.608C>G
 dbSNP gnomAD v3 gnomAD v4
14g.93218631C>TCA390810985UBR7c.706C>T (p.Leu236Phe)
c.478C>T (p.Leu160Phe)
c.*407C>T (n.*407C>T)
c.378+3350C>T
c.415C>T (p.Leu139Phe)
n.808C>T
n.608C>T
14g.93218632T>ACA390810988UBR7c.707T>A (p.Leu236His)
c.479T>A (p.Leu160His)
c.*408T>A (n.*408T>A)
c.378+3351T>A
c.416T>A (p.Leu139His)
n.809T>A
n.609T>A
14g.93218632T>CCA390810986UBR7c.707T>C (p.Leu236Pro)
c.479T>C (p.Leu160Pro)
c.*408T>C (n.*408T>C)
c.378+3351T>C
c.416T>C (p.Leu139Pro)
n.809T>C
n.609T>C
14g.93218632T>GCA390810987UBR7c.707T>G (p.Leu236Arg)
c.479T>G (p.Leu160Arg)
c.*408T>G (n.*408T>G)
c.378+3351T>G
c.416T>G (p.Leu139Arg)
n.809T>G
n.609T>G
14g.93218633C>ACA487594098UBR7c.708C>A (p.Leu236=)
c.480C>A (p.Leu160=)
c.*409C>A (n.*409C>A)
c.378+3352C>A
c.417C>A (p.Leu139=)
n.810C>A
n.610C>A
14g.93218633C=CA2155441048UBR7c.708C= (p.Leu236=)
c.480C= (p.Leu160=)
c.*409C= (n.*409C=)
c.378+3352C=
c.417C= (p.Leu139=)
n.810C=
n.610C=
14g.93218633C>GCA487594099UBR7c.708C>G (p.Leu236=)
c.480C>G (p.Leu160=)
c.*409C>G (n.*409C>G)
c.378+3352C>G
c.417C>G (p.Leu139=)
n.810C>G
n.610C>G
 dbSNP gnomAD v2 gnomAD v4
14g.93218633C>TCA487594100UBR7c.708C>T (p.Leu236=)
c.480C>T (p.Leu160=)
c.*409C>T (n.*409C>T)
c.378+3352C>T
c.417C>T (p.Leu139=)
n.810C>T
n.610C>T
 gnomAD v4 COSMIC
14g.93218634A=CA2155441049UBR7c.709A= (p.Lys237=)
c.481A= (p.Lys161=)
c.*410A= (n.*410A=)
c.378+3353A=
c.418A= (p.Lys140=)
n.811A=
n.611A=
14g.93218634A>CCA265761465UBR7c.709A>C (p.Lys237Gln)
c.481A>C (p.Lys161Gln)
c.*410A>C (n.*410A>C)
c.378+3353A>C
c.418A>C (p.Lys140Gln)
n.811A>C
n.611A>C
 dbSNP gnomAD v4
14g.93218634A>GCA390810989UBR7c.709A>G (p.Lys237Glu)
c.481A>G (p.Lys161Glu)
c.*410A>G (n.*410A>G)
c.378+3353A>G
c.418A>G (p.Lys140Glu)
n.811A>G
n.611A>G
 gnomAD v4
14g.93218634A>TCA390810991UBR7c.709A>T (p.Lys237Ter)
c.481A>T (p.Lys161Ter)
c.*410A>T (n.*410A>T)
c.378+3353A>T
c.418A>T (p.Lys140Ter)
n.811A>T
n.611A>T
14g.93218635A>CCA390810994UBR7c.710A>C (p.Lys237Thr)
c.482A>C (p.Lys161Thr)
c.*411A>C (n.*411A>C)
c.378+3354A>C
c.419A>C (p.Lys140Thr)
n.812A>C
n.612A>C
14g.93218635A>GCA390810995UBR7c.710A>G (p.Lys237Arg)
c.482A>G (p.Lys161Arg)
c.*411A>G (n.*411A>G)
c.378+3354A>G
c.419A>G (p.Lys140Arg)
n.812A>G
n.612A>G
14g.93218635A>TCA390810997UBR7c.710A>T (p.Lys237Ile)
c.482A>T (p.Lys161Ile)
c.*411A>T (n.*411A>T)
c.378+3354A>T
c.419A>T (p.Lys140Ile)
n.812A>T
n.612A>T
14g.93218636A>CCA390811000UBR7c.711A>C (p.Lys237Asn)
c.483A>C (p.Lys161Asn)
c.*412A>C (n.*412A>C)
c.378+3355A>C
c.420A>C (p.Lys140Asn)
n.813A>C
n.613A>C
14g.93218636A>GCA487594101UBR7c.711A>G (p.Lys237=)
c.483A>G (p.Lys161=)
c.*412A>G (n.*412A>G)
c.378+3355A>G
c.420A>G (p.Lys140=)
n.813A>G
n.613A>G
14g.93218636A>TCA390811001UBR7c.711A>T (p.Lys237Asn)
c.483A>T (p.Lys161Asn)
c.*412A>T (n.*412A>T)
c.378+3355A>T
c.420A>T (p.Lys140Asn)
n.813A>T
n.613A>T
14g.93218637G>ACA7319909UBR7c.712G>A (p.Glu238Lys)
c.484G>A (p.Glu162Lys)
c.*413G>A (n.*413G>A)
c.378+3356G>A
c.421G>A (p.Glu141Lys)
n.814G>A
n.614G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218637G>CCA390811004UBR7c.712G>C (p.Glu238Gln)
c.484G>C (p.Glu162Gln)
c.*413G>C (n.*413G>C)
c.378+3356G>C
c.421G>C (p.Glu141Gln)
n.814G>C
n.614G>C
14g.93218637G=CA2155441050UBR7c.712G= (p.Glu238=)
c.484G= (p.Glu162=)
c.*413G= (n.*413G=)
c.378+3356G=
c.421G= (p.Glu141=)
n.814G=
n.614G=
14g.93218637G>TCA390811006UBR7c.712G>T (p.Glu238Ter)
c.484G>T (p.Glu162Ter)
c.*413G>T (n.*413G>T)
c.378+3356G>T
c.421G>T (p.Glu141Ter)
n.814G>T
n.614G>T
14g.93218638A>CCA390811010UBR7c.713A>C (p.Glu238Ala)
c.485A>C (p.Glu162Ala)
c.*414A>C (n.*414A>C)
c.378+3357A>C
c.422A>C (p.Glu141Ala)
n.815A>C
n.615A>C
14g.93218638A>GCA390811011UBR7c.713A>G (p.Glu238Gly)
c.485A>G (p.Glu162Gly)
c.*414A>G (n.*414A>G)
c.378+3357A>G
c.422A>G (p.Glu141Gly)
n.815A>G
n.615A>G
14g.93218638A>TCA390811008UBR7c.713A>T (p.Glu238Val)
c.485A>T (p.Glu162Val)
c.*414A>T (n.*414A>T)
c.378+3357A>T
c.422A>T (p.Glu141Val)
n.815A>T
n.615A>T
14g.93218639G>ACA487594102UBR7c.714G>A (p.Glu238=)
c.486G>A (p.Glu162=)
c.*415G>A (n.*415G>A)
c.378+3358G>A
c.423G>A (p.Glu141=)
n.816G>A
n.616G>A
14g.93218639G>CCA390811014UBR7c.714G>C (p.Glu238Asp)
c.486G>C (p.Glu162Asp)
c.*415G>C (n.*415G>C)
c.378+3358G>C
c.423G>C (p.Glu141Asp)
n.816G>C
n.616G>C
14g.93218639G>TCA390811016UBR7c.714G>T (p.Glu238Asp)
c.486G>T (p.Glu162Asp)
c.*415G>T (n.*415G>T)
c.378+3358G>T
c.423G>T (p.Glu141Asp)
n.816G>T
n.616G>T
14g.93218640G>ACA390811017UBR7c.715G>A (p.Asp239Asn)
c.487G>A (p.Asp163Asn)
c.*416G>A (n.*416G>A)
c.378+3359G>A
c.424G>A (p.Asp142Asn)
n.817G>A
n.617G>A
14g.93218640G>CCA7319910UBR7c.715G>C (p.Asp239His)
c.487G>C (p.Asp163His)
c.*416G>C (n.*416G>C)
c.378+3359G>C
c.424G>C (p.Asp142His)
n.817G>C
n.617G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218640G=CA2155441051UBR7c.715G= (p.Asp239=)
c.487G= (p.Asp163=)
c.*416G= (n.*416G=)
c.378+3359G=
c.424G= (p.Asp142=)
n.817G=
n.617G=
14g.93218640G>TCA390811020UBR7c.715G>T (p.Asp239Tyr)
c.487G>T (p.Asp163Tyr)
c.*416G>T (n.*416G>T)
c.378+3359G>T
c.424G>T (p.Asp142Tyr)
n.817G>T
n.617G>T
 gnomAD v4
14g.93218641A>CCA390811022UBR7c.716A>C (p.Asp239Ala)
c.488A>C (p.Asp163Ala)
c.*417A>C (n.*417A>C)
c.378+3360A>C
c.425A>C (p.Asp142Ala)
n.818A>C
n.618A>C
14g.93218641A>GCA390811024UBR7c.716A>G (p.Asp239Gly)
c.488A>G (p.Asp163Gly)
c.*417A>G (n.*417A>G)
c.378+3360A>G
c.425A>G (p.Asp142Gly)
n.818A>G
n.618A>G
 gnomAD v4
14g.93218641A>TCA390811026UBR7c.716A>T (p.Asp239Val)
c.488A>T (p.Asp163Val)
c.*417A>T (n.*417A>T)
c.378+3360A>T
c.425A>T (p.Asp142Val)
n.818A>T
n.618A>T
14g.93218642T>ACA390811028UBR7c.717T>A (p.Asp239Glu)
c.489T>A (p.Asp163Glu)
c.*418T>A (n.*418T>A)
c.378+3361T>A
c.426T>A (p.Asp142Glu)
n.819T>A
n.619T>A
14g.93218642T>CCA487594104UBR7c.717T>C (p.Asp239=)
c.489T>C (p.Asp163=)
c.*418T>C (n.*418T>C)
c.378+3361T>C
c.426T>C (p.Asp142=)
n.819T>C
n.619T>C
14g.93218642T>GCA390811029UBR7c.717T>G (p.Asp239Glu)
c.489T>G (p.Asp163Glu)
c.*418T>G (n.*418T>G)
c.378+3361T>G
c.426T>G (p.Asp142Glu)
n.819T>G
n.619T>G
14g.93218643G>ACA390811032UBR7c.718G>A (p.Val240Ile)
c.490G>A (p.Val164Ile)
c.*419G>A (n.*419G>A)
c.378+3362G>A
c.427G>A (p.Val143Ile)
n.820G>A
n.620G>A
 dbSNP gnomAD v4
14g.93218643G>CCA390811034UBR7c.718G>C (p.Val240Leu)
c.490G>C (p.Val164Leu)
c.*419G>C (n.*419G>C)
c.378+3362G>C
c.427G>C (p.Val143Leu)
n.820G>C
n.620G>C
14g.93218643G=CA2155441052UBR7c.718G= (p.Val240=)
c.490G= (p.Val164=)
c.*419G= (n.*419G=)
c.378+3362G=
c.427G= (p.Val143=)
n.820G=
n.620G=
14g.93218643G>TCA390811036UBR7c.718G>T (p.Val240Phe)
c.490G>T (p.Val164Phe)
c.*419G>T (n.*419G>T)
c.378+3362G>T
c.427G>T (p.Val143Phe)
n.820G>T
n.620G>T
14g.93218644T>ACA390811042UBR7c.719T>A (p.Val240Asp)
c.491T>A (p.Val164Asp)
c.*420T>A (n.*420T>A)
c.378+3363T>A
c.428T>A (p.Val143Asp)
n.821T>A
n.621T>A
 dbSNP gnomAD v2
14g.93218644T>CCA390811040UBR7c.719T>C (p.Val240Ala)
c.491T>C (p.Val164Ala)
c.*420T>C (n.*420T>C)
c.378+3363T>C
c.428T>C (p.Val143Ala)
n.821T>C
n.621T>C
14g.93218644T>GCA390811038UBR7c.719T>G (p.Val240Gly)
c.491T>G (p.Val164Gly)
c.*420T>G (n.*420T>G)
c.378+3363T>G
c.428T>G (p.Val143Gly)
n.821T>G
n.621T>G
14g.93218644T=CA2155441053UBR7c.719T= (p.Val240=)
c.491T= (p.Val164=)
c.*420T= (n.*420T=)
c.378+3363T=
c.428T= (p.Val143=)
n.821T=
n.621T=
14g.93218645T>ACA487594106UBR7c.720T>A (p.Val240=)
c.492T>A (p.Val164=)
c.*421T>A (n.*421T>A)
c.378+3364T>A
c.429T>A (p.Val143=)
n.822T>A
n.622T>A
14g.93218645T>CCA487594107UBR7c.720T>C (p.Val240=)
c.492T>C (p.Val164=)
c.*421T>C (n.*421T>C)
c.378+3364T>C
c.429T>C (p.Val143=)
n.822T>C
n.622T>C
14g.93218645T>GCA487594108UBR7c.720T>G (p.Val240=)
c.492T>G (p.Val164=)
c.*421T>G (n.*421T>G)
c.378+3364T>G
c.429T>G (p.Val143=)
n.822T>G
n.622T>G
14g.93218646C>ACA390811044UBR7c.721C>A (p.Pro241Thr)
c.493C>A (p.Pro165Thr)
c.*422C>A (n.*422C>A)
c.378+3365C>A
c.430C>A (p.Pro144Thr)
n.823C>A
n.623C>A
14g.93218646C>GCA390811046UBR7c.721C>G (p.Pro241Ala)
c.493C>G (p.Pro165Ala)
c.*422C>G (n.*422C>G)
c.378+3365C>G
c.430C>G (p.Pro144Ala)
n.823C>G
n.623C>G
 gnomAD v4
14g.93218646C>TCA390811048UBR7c.721C>T (p.Pro241Ser)
c.493C>T (p.Pro165Ser)
c.*422C>T (n.*422C>T)
c.378+3365C>T
c.430C>T (p.Pro144Ser)
n.823C>T
n.623C>T
14g.93218647C>ACA390811050UBR7c.722C>A (p.Pro241Gln)
c.494C>A (p.Pro165Gln)
c.*423C>A (n.*423C>A)
c.378+3366C>A
c.431C>A (p.Pro144Gln)
n.824C>A
n.624C>A
14g.93218647C>GCA390811052UBR7c.722C>G (p.Pro241Arg)
c.494C>G (p.Pro165Arg)
c.*423C>G (n.*423C>G)
c.378+3366C>G
c.431C>G (p.Pro144Arg)
n.824C>G
n.624C>G
 gnomAD v4
14g.93218647C>TCA390811054UBR7c.722C>T (p.Pro241Leu)
c.494C>T (p.Pro165Leu)
c.*423C>T (n.*423C>T)
c.378+3366C>T
c.431C>T (p.Pro144Leu)
n.824C>T
n.624C>T
14g.93218655_93218695dupCA2626239399UBR7c.730_770dup (p.Ser257ArgfsTer11)
c.502_542dup (p.Ser181ArgfsTer11)
c.*431_*471dup (n.*431_*471dup)
c.378+3374_378+3414dup
n.832_872dup
n.632_672dup
 gnomAD v4
14g.93218648A=CA2155441054UBR7c.723A= (p.Pro241=)
c.495A= (p.Pro165=)
c.*424A= (n.*424A=)
c.378+3367A=
c.432A= (p.Pro144=)
n.825A=
n.625A=
14g.93218648A>CCA487594109UBR7c.723A>C (p.Pro241=)
c.495A>C (p.Pro165=)
c.*424A>C (n.*424A>C)
c.378+3367A>C
c.432A>C (p.Pro144=)
n.825A>C
n.625A>C
14g.93218648A>GCA7319911UBR7c.723A>G (p.Pro241=)
c.495A>G (p.Pro165=)
c.*424A>G (n.*424A>G)
c.378+3367A>G
c.432A>G (p.Pro144=)
n.825A>G
n.625A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218648A>TCA487594110UBR7c.723A>T (p.Pro241=)
c.495A>T (p.Pro165=)
c.*424A>T (n.*424A>T)
c.378+3367A>T
c.432A>T (p.Pro144=)
n.825A>T
n.625A>T
14g.93218649G>ACA390811057UBR7c.724G>A (p.Glu242Lys)
c.496G>A (p.Glu166Lys)
c.*425G>A (n.*425G>A)
c.378+3368G>A
c.433G>A (p.Glu145Lys)
n.826G>A
n.626G>A
 dbSNP
14g.93218649G>CCA390811059UBR7c.724G>C (p.Glu242Gln)
c.496G>C (p.Glu166Gln)
c.*425G>C (n.*425G>C)
c.378+3368G>C
c.433G>C (p.Glu145Gln)
n.826G>C
n.626G>C
14g.93218649G=CA2155441055UBR7c.724G= (p.Glu242=)
c.496G= (p.Glu166=)
c.*425G= (n.*425G=)
c.378+3368G=
c.433G= (p.Glu145=)
n.826G=
n.626G=
14g.93218649G>TCA390811061UBR7c.724G>T (p.Glu242Ter)
c.496G>T (p.Glu166Ter)
c.*425G>T (n.*425G>T)
c.378+3368G>T
c.433G>T (p.Glu145Ter)
n.826G>T
n.626G>T
14g.93218650A>CCA390811063UBR7c.725A>C (p.Glu242Ala)
c.497A>C (p.Glu166Ala)
c.*426A>C (n.*426A>C)
c.378+3369A>C
c.434A>C (p.Glu145Ala)
n.827A>C
n.627A>C
 gnomAD v4
14g.93218650A>GCA390811065UBR7c.725A>G (p.Glu242Gly)
c.497A>G (p.Glu166Gly)
c.*426A>G (n.*426A>G)
c.378+3369A>G
c.434A>G (p.Glu145Gly)
n.827A>G
n.627A>G
14g.93218650A>TCA390811067UBR7c.725A>T (p.Glu242Val)
c.497A>T (p.Glu166Val)
c.*426A>T (n.*426A>T)
c.378+3369A>T
c.434A>T (p.Glu145Val)
n.827A>T
n.627A>T
14g.93218651A>CCA390811070UBR7c.726A>C (p.Glu242Asp)
c.498A>C (p.Glu166Asp)
c.*427A>C (n.*427A>C)
c.378+3370A>C
c.435A>C (p.Glu145Asp)
n.828A>C
n.628A>C
14g.93218651A>GCA487594111UBR7c.726A>G (p.Glu242=)
c.498A>G (p.Glu166=)
c.*427A>G (n.*427A>G)
c.378+3370A>G
c.435A>G (p.Glu145=)
n.828A>G
n.628A>G
14g.93218651A>TCA390811071UBR7c.726A>T (p.Glu242Asp)
c.498A>T (p.Glu166Asp)
c.*427A>T (n.*427A>T)
c.378+3370A>T
c.435A>T (p.Glu145Asp)
n.828A>T
n.628A>T
14g.93218652C>ACA390811074UBR7c.727C>A (p.Gln243Lys)
c.499C>A (p.Gln167Lys)
c.*428C>A (n.*428C>A)
c.378+3371C>A
c.436C>A (p.Gln146Lys)
n.829C>A
n.629C>A
14g.93218652C=CA2155441056UBR7c.727C= (p.Gln243=)
c.499C= (p.Gln167=)
c.*428C= (n.*428C=)
c.378+3371C=
c.436C= (p.Gln146=)
n.829C=
n.629C=
14g.93218652C>GCA390811075UBR7c.727C>G (p.Gln243Glu)
c.499C>G (p.Gln167Glu)
c.*428C>G (n.*428C>G)
c.378+3371C>G
c.436C>G (p.Gln146Glu)
n.829C>G
n.629C>G
 dbSNP gnomAD v4
14g.93218652C>TCA390811076UBR7c.727C>T (p.Gln243Ter)
c.499C>T (p.Gln167Ter)
c.*428C>T (n.*428C>T)
c.378+3371C>T
c.436C>T (p.Gln146Ter)
n.829C>T
n.629C>T
14g.93218653A=CA2155441057UBR7c.728A= (p.Gln243=)
c.500A= (p.Gln167=)
c.*429A= (n.*429A=)
c.378+3372A=
c.437A= (p.Gln146=)
n.830A=
n.630A=
14g.93218653A>CCA390811079UBR7c.728A>C (p.Gln243Pro)
c.500A>C (p.Gln167Pro)
c.*429A>C (n.*429A>C)
c.378+3372A>C
c.437A>C (p.Gln146Pro)
n.830A>C
n.630A>C
14g.93218653A>GCA390811080UBR7c.728A>G (p.Gln243Arg)
c.500A>G (p.Gln167Arg)
c.*429A>G (n.*429A>G)
c.378+3372A>G
c.437A>G (p.Gln146Arg)
n.830A>G
n.630A>G
 dbSNP gnomAD v4
14g.93218653A>TCA390811081UBR7c.728A>T (p.Gln243Leu)
c.500A>T (p.Gln167Leu)
c.*429A>T (n.*429A>T)
c.378+3372A>T
c.437A>T (p.Gln146Leu)
n.830A>T
n.630A>T
14g.93218654G>ACA487594112UBR7c.729G>A (p.Gln243=)
c.501G>A (p.Gln167=)
c.*430G>A (n.*430G>A)
c.378+3373G>A
c.438G>A (p.Gln146=)
n.831G>A
n.631G>A
14g.93218654G>CCA390811082UBR7c.729G>C (p.Gln243His)
c.501G>C (p.Gln167His)
c.*430G>C (n.*430G>C)
c.378+3373G>C
c.438G>C (p.Gln146His)
n.831G>C
n.631G>C
14g.93218654G>TCA390811084UBR7c.729G>T (p.Gln243His)
c.501G>T (p.Gln167His)
c.*430G>T (n.*430G>T)
c.378+3373G>T
c.438G>T (p.Gln146His)
n.831G>T
n.631G>T
14g.93218655G>ACA7319912UBR7c.730G>A (p.Gly244Arg)
c.502G>A (p.Gly168Arg)
c.*431G>A (n.*431G>A)
c.378+3374G>A
c.439G>A (p.Gly147Arg)
n.832G>A
n.632G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218655G>CCA390811086UBR7c.730G>C (p.Gly244Arg)
c.502G>C (p.Gly168Arg)
c.*431G>C (n.*431G>C)
c.378+3374G>C
c.439G>C (p.Gly147Arg)
n.832G>C
n.632G>C
14g.93218655G=CA2155441058UBR7c.730G= (p.Gly244=)
c.502G= (p.Gly168=)
c.*431G= (n.*431G=)
c.378+3374G=
c.439G= (p.Gly147=)
n.832G=
n.632G=
14g.93218655G>TCA390811088UBR7c.730G>T (p.Gly244Ter)
c.502G>T (p.Gly168Ter)
c.*431G>T (n.*431G>T)
c.378+3374G>T
c.439G>T (p.Gly147Ter)
n.832G>T
n.632G>T

Number of alleles fetched