Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
14g.93218656G>ACA390811090UBR7c.731G>A (p.Gly244Glu)
c.503G>A (p.Gly168Glu)
c.*432G>A (n.*432G>A)
c.378+3375G>A
c.440G>A (p.Gly147Glu)
n.833G>A
n.633G>A
14g.93218656G>CCA390811091UBR7c.731G>C (p.Gly244Ala)
c.503G>C (p.Gly168Ala)
c.*432G>C (n.*432G>C)
c.378+3375G>C
c.440G>C (p.Gly147Ala)
n.833G>C
n.633G>C
14g.93218656G=CA2155441059UBR7c.731G= (p.Gly244=)
c.503G= (p.Gly168=)
c.*432G= (n.*432G=)
c.378+3375G=
c.440G= (p.Gly147=)
n.833G=
n.633G=
14g.93218656G>TCA7319913UBR7c.731G>T (p.Gly244Val)
c.503G>T (p.Gly168Val)
c.*432G>T (n.*432G>T)
c.378+3375G>T
c.440G>T (p.Gly147Val)
n.833G>T
n.633G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218657A>CCA487594114UBR7c.732A>C (p.Gly244=)
c.504A>C (p.Gly168=)
c.*433A>C (n.*433A>C)
c.378+3376A>C
c.441A>C (p.Gly147=)
n.834A>C
n.634A>C
14g.93218657A>GCA487594113UBR7c.732A>G (p.Gly244=)
c.504A>G (p.Gly168=)
c.*433A>G (n.*433A>G)
c.378+3376A>G
c.441A>G (p.Gly147=)
n.834A>G
n.634A>G
14g.93218657A>TCA487594115UBR7c.732A>T (p.Gly244=)
c.504A>T (p.Gly168=)
c.*433A>T (n.*433A>T)
c.378+3376A>T
c.441A>T (p.Gly147=)
n.834A>T
n.634A>T
14g.93218658A>CCA390811098UBR7c.733A>C (p.Lys245Gln)
c.505A>C (p.Lys169Gln)
c.*434A>C (n.*434A>C)
c.378+3377A>C
c.442A>C (p.Lys148Gln)
n.835A>C
n.635A>C
14g.93218658A>GCA390811096UBR7c.733A>G (p.Lys245Glu)
c.505A>G (p.Lys169Glu)
c.*434A>G (n.*434A>G)
c.378+3377A>G
c.442A>G (p.Lys148Glu)
n.835A>G
n.635A>G
14g.93218658A>TCA390811095UBR7c.733A>T (p.Lys245Ter)
c.505A>T (p.Lys169Ter)
c.*434A>T (n.*434A>T)
c.378+3377A>T
c.442A>T (p.Lys148Ter)
n.835A>T
n.635A>T
14g.93218659A=CA2155441060UBR7c.734A= (p.Lys245=)
c.506A= (p.Lys169=)
c.*435A= (n.*435A=)
c.378+3378A=
c.443A= (p.Lys148=)
n.836A=
n.636A=
14g.93218659A>CCA390811101UBR7c.734A>C (p.Lys245Thr)
c.506A>C (p.Lys169Thr)
c.*435A>C (n.*435A>C)
c.378+3378A>C
c.443A>C (p.Lys148Thr)
n.836A>C
n.636A>C
14g.93218659A>GCA390811103UBR7c.734A>G (p.Lys245Arg)
c.506A>G (p.Lys169Arg)
c.*435A>G (n.*435A>G)
c.378+3378A>G
c.443A>G (p.Lys148Arg)
n.836A>G
n.636A>G
 dbSNP
14g.93218659A>TCA390811105UBR7c.734A>T (p.Lys245Met)
c.506A>T (p.Lys169Met)
c.*435A>T (n.*435A>T)
c.378+3378A>T
c.443A>T (p.Lys148Met)
n.836A>T
n.636A>T
14g.93218660G>ACA7319914UBR7c.735G>A (p.Lys245=)
c.507G>A (p.Lys169=)
c.*436G>A (n.*436G>A)
c.378+3379G>A
c.444G>A (p.Lys148=)
n.837G>A
n.637G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218660G>CCA390811107UBR7c.735G>C (p.Lys245Asn)
c.507G>C (p.Lys169Asn)
c.*436G>C (n.*436G>C)
c.378+3379G>C
c.444G>C (p.Lys148Asn)
n.837G>C
n.637G>C
14g.93218660G=CA2155441061UBR7c.735G= (p.Lys245=)
c.507G= (p.Lys169=)
c.*436G= (n.*436G=)
c.378+3379G=
c.444G= (p.Lys148=)
n.837G=
n.637G=
14g.93218660G>TCA390811109UBR7c.735G>T (p.Lys245Asn)
c.507G>T (p.Lys169Asn)
c.*436G>T (n.*436G>T)
c.378+3379G>T
c.444G>T (p.Lys148Asn)
n.837G>T
n.637G>T
 gnomAD v4
14g.93218661G>ACA7319915UBR7c.736G>A (p.Asp246Asn)
c.508G>A (p.Asp170Asn)
c.*437G>A (n.*437G>A)
c.378+3380G>A
c.445G>A (p.Asp149Asn)
n.838G>A
n.638G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218661G>CCA390811112UBR7c.736G>C (p.Asp246His)
c.508G>C (p.Asp170His)
c.*437G>C (n.*437G>C)
c.378+3380G>C
c.445G>C (p.Asp149His)
n.838G>C
n.638G>C
14g.93218661G=CA2155441062UBR7c.736G= (p.Asp246=)
c.508G= (p.Asp170=)
c.*437G= (n.*437G=)
c.378+3380G=
c.445G= (p.Asp149=)
n.838G=
n.638G=
14g.93218661G>TCA390811114UBR7c.736G>T (p.Asp246Tyr)
c.508G>T (p.Asp170Tyr)
c.*437G>T (n.*437G>T)
c.378+3380G>T
c.445G>T (p.Asp149Tyr)
n.838G>T
n.638G>T
14g.93218662_93218667delCA2802634124UBR7c.737_742del (p.Asp246_Asp247del)
c.509_514del (p.Asp170_Asp171del)
c.*438_*443del (n.*438_*443del)
c.378+3381_378+3386del
c.446_451del (p.Asp149_Asp150del)
n.839_844del
n.639_644del
14g.93218661_93218662insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTACA2802634125UBR7c.736_737insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (p.Asp246delinsValThrGlyLeuArgProAlaLeuAlaThrTrpValAsnLeuIleSerThrAsn)
c.508_509insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (p.Asp170delinsValThrGlyLeuArgProAlaLeuAlaThrTrpValAsnLeuIleSerThrAsn)
c.*437_*438insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (n.*437_*438insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA)
c.378+3380_378+3381insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA
c.445_446insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA (p.Asp149delinsValThrGlyLeuArgProAlaLeuAlaThrTrpValAsnLeuIleSerThrAsn)
n.838_839insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA
n.638_639insTCACGGGTTTGAGACCAGCCTTGGCAACATGGGTAAACCTCATCTCTACTA
14g.93218662A=CA2155441063UBR7c.737A= (p.Asp246=)
c.509A= (p.Asp170=)
c.*438A= (n.*438A=)
c.378+3381A=
c.446A= (p.Asp149=)
n.839A=
n.639A=
14g.93218662A>CCA390811116UBR7c.737A>C (p.Asp246Ala)
c.509A>C (p.Asp170Ala)
c.*438A>C (n.*438A>C)
c.378+3381A>C
c.446A>C (p.Asp149Ala)
n.839A>C
n.639A>C
14g.93218662A>GCA7319916UBR7c.737A>G (p.Asp246Gly)
c.509A>G (p.Asp170Gly)
c.*438A>G (n.*438A>G)
c.378+3381A>G
c.446A>G (p.Asp149Gly)
n.839A>G
n.639A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.93218662A>TCA390811118UBR7c.737A>T (p.Asp246Val)
c.509A>T (p.Asp170Val)
c.*438A>T (n.*438A>T)
c.378+3381A>T
c.446A>T (p.Asp149Val)
n.839A>T
n.639A>T
14g.93218663T>ACA390811121UBR7c.738T>A (p.Asp246Glu)
c.510T>A (p.Asp170Glu)
c.*439T>A (n.*439T>A)
c.378+3382T>A
c.447T>A (p.Asp149Glu)
n.840T>A
n.640T>A
14g.93218663T>CCA487594116UBR7c.738T>C (p.Asp246=)
c.510T>C (p.Asp170=)
c.*439T>C (n.*439T>C)
c.378+3382T>C
c.447T>C (p.Asp149=)
n.840T>C
n.640T>C
14g.93218663T>GCA390811122UBR7c.738T>G (p.Asp246Glu)
c.510T>G (p.Asp170Glu)
c.*439T>G (n.*439T>G)
c.378+3382T>G
c.447T>G (p.Asp149Glu)
n.840T>G
n.640T>G
14g.93218664G>ACA390811126UBR7c.739G>A (p.Asp247Asn)
c.511G>A (p.Asp171Asn)
c.*440G>A (n.*440G>A)
c.378+3383G>A
c.448G>A (p.Asp150Asn)
n.841G>A
n.641G>A
 dbSNP
14g.93218664G>CCA390811129UBR7c.739G>C (p.Asp247His)
c.511G>C (p.Asp171His)
c.*440G>C (n.*440G>C)
c.378+3383G>C
c.448G>C (p.Asp150His)
n.841G>C
n.641G>C
14g.93218664G=CA2155441064UBR7c.739G= (p.Asp247=)
c.511G= (p.Asp171=)
c.*440G= (n.*440G=)
c.378+3383G=
c.448G= (p.Asp150=)
n.841G=
n.641G=
14g.93218664G>TCA390811124UBR7c.739G>T (p.Asp247Tyr)
c.511G>T (p.Asp171Tyr)
c.*440G>T (n.*440G>T)
c.378+3383G>T
c.448G>T (p.Asp150Tyr)
n.841G>T
n.641G>T
 gnomAD v4
14g.93218665A=CA2155441065UBR7c.740A= (p.Asp247=)
c.512A= (p.Asp171=)
c.*441A= (n.*441A=)
c.378+3384A=
c.449A= (p.Asp150=)
n.842A=
n.642A=
14g.93218665A>CCA390811130UBR7c.740A>C (p.Asp247Ala)
c.512A>C (p.Asp171Ala)
c.*441A>C (n.*441A>C)
c.378+3384A>C
c.449A>C (p.Asp150Ala)
n.842A>C
n.642A>C
14g.93218665A>GCA390811131UBR7c.740A>G (p.Asp247Gly)
c.512A>G (p.Asp171Gly)
c.*441A>G (n.*441A>G)
c.378+3384A>G
c.449A>G (p.Asp150Gly)
n.842A>G
n.642A>G
 dbSNP gnomAD v4
14g.93218665A>TCA390811133UBR7c.740A>T (p.Asp247Val)
c.512A>T (p.Asp171Val)
c.*441A>T (n.*441A>T)
c.378+3384A>T
c.449A>T (p.Asp150Val)
n.842A>T
n.642A>T
14g.93218666T>ACA390811136UBR7c.741T>A (p.Asp247Glu)
c.513T>A (p.Asp171Glu)
c.*442T>A (n.*442T>A)
c.378+3385T>A
c.450T>A (p.Asp150Glu)
n.843T>A
n.643T>A
14g.93218666T>CCA7319917UBR7c.741T>C (p.Asp247=)
c.513T>C (p.Asp171=)
c.*442T>C (n.*442T>C)
c.378+3385T>C
c.450T>C (p.Asp150=)
n.843T>C
n.643T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218666T>GCA390811139UBR7c.741T>G (p.Asp247Glu)
c.513T>G (p.Asp171Glu)
c.*442T>G (n.*442T>G)
c.378+3385T>G
c.450T>G (p.Asp150Glu)
n.843T>G
n.643T>G
14g.93218666T=CA2155441066UBR7c.741T= (p.Asp247=)
c.513T= (p.Asp171=)
c.*442T= (n.*442T=)
c.378+3385T=
c.450T= (p.Asp150=)
n.843T=
n.643T=
14g.93218667G>ACA390811145UBR7c.742G>A (p.Val248Ile)
c.514G>A (p.Val172Ile)
c.*443G>A (n.*443G>A)
c.378+3386G>A
c.451G>A (p.Val151Ile)
n.844G>A
n.644G>A
14g.93218667G>CCA390811141UBR7c.742G>C (p.Val248Leu)
c.514G>C (p.Val172Leu)
c.*443G>C (n.*443G>C)
c.378+3386G>C
c.451G>C (p.Val151Leu)
n.844G>C
n.644G>C
14g.93218667G>TCA390811143UBR7c.742G>T (p.Val248Phe)
c.514G>T (p.Val172Phe)
c.*443G>T (n.*443G>T)
c.378+3386G>T
c.451G>T (p.Val151Phe)
n.844G>T
n.644G>T
14g.93218668T>ACA390811146UBR7c.743T>A (p.Val248Asp)
c.515T>A (p.Val172Asp)
c.*444T>A (n.*444T>A)
c.378+3387T>A
c.452T>A (p.Val151Asp)
n.845T>A
n.645T>A
14g.93218668T>CCA390811147UBR7c.743T>C (p.Val248Ala)
c.515T>C (p.Val172Ala)
c.*444T>C (n.*444T>C)
c.378+3387T>C
c.452T>C (p.Val151Ala)
n.845T>C
n.645T>C
14g.93218668T>GCA390811149UBR7c.743T>G (p.Val248Gly)
c.515T>G (p.Val172Gly)
c.*444T>G (n.*444T>G)
c.378+3387T>G
c.452T>G (p.Val151Gly)
n.845T>G
n.645T>G
14g.93218669C>ACA487594117UBR7c.744C>A (p.Val248=)
c.516C>A (p.Val172=)
c.*445C>A (n.*445C>A)
c.378+3388C>A
c.453C>A (p.Val151=)
n.846C>A
n.646C>A
14g.93218669C>GCA487594118UBR7c.744C>G (p.Val248=)
c.516C>G (p.Val172=)
c.*445C>G (n.*445C>G)
c.378+3388C>G
c.453C>G (p.Val151=)
n.846C>G
n.646C>G
14g.93218669C>TCA487594119UBR7c.744C>T (p.Val248=)
c.516C>T (p.Val172=)
c.*445C>T (n.*445C>T)
c.378+3388C>T
c.453C>T (p.Val151=)
n.846C>T
n.646C>T
14g.93218669_93218670insACA2802634126UBR7c.744_745insA (p.Arg249ThrfsTer4)
c.516_517insA (p.Arg173ThrfsTer4)
c.*445_*446insA (n.*445_*446insA)
c.378+3388_378+3389insA
c.453_454insA (p.Arg152ThrfsTer?)
n.846_847insA
n.646_647insA
14g.93218670C>ACA487594120UBR7c.745C>A (p.Arg249=)
c.517C>A (p.Arg173=)
c.*446C>A (n.*446C>A)
c.378+3389C>A
c.454C>A (p.Arg152=)
n.847C>A
n.647C>A
 gnomAD v4
14g.93218670C=CA2155441067UBR7c.745C= (p.Arg249=)
c.517C= (p.Arg173=)
c.*446C= (n.*446C=)
c.378+3389C=
c.454C= (p.Arg152=)
n.847C=
n.647C=
14g.93218670C>GCA390811151UBR7c.745C>G (p.Arg249Gly)
c.517C>G (p.Arg173Gly)
c.*446C>G (n.*446C>G)
c.378+3389C>G
c.454C>G (p.Arg152Gly)
n.847C>G
n.647C>G
14g.93218670C>TCA7319918UBR7c.745C>T (p.Arg249Trp)
c.517C>T (p.Arg173Trp)
c.*446C>T (n.*446C>T)
c.378+3389C>T
c.454C>T (p.Arg152Trp)
n.847C>T
n.647C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.93218670_93218671insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAACA2570219737UBR7c.745_746insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (p.Arg249ProfsTer19)
c.517_518insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (p.Arg173ProfsTer19)
c.*446_*447insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (n.*446_*447insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA)
c.378+3389_378+3390insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA
c.454_455insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA (p.Arg152ProfsTer19)
n.847_848insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA
n.647_648insCAAGACCACATTTCAGACGGCCTTGTCGTGTTTGTGAGTTTTATGGCGTTTTTTAAACCAACGGATGATTGCCATCACATAACCGGACAGGCTGTAACCGAGGAAAAACAGGAAGAGGACGAGCGAA
14g.93218671G>ACA7319919UBR7c.746G>A (p.Arg249Gln)
c.518G>A (p.Arg173Gln)
c.*447G>A (n.*447G>A)
c.378+3390G>A
c.455G>A (p.Arg152Gln)
n.848G>A
n.648G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218671G>CCA390811156UBR7c.746G>C (p.Arg249Pro)
c.518G>C (p.Arg173Pro)
c.*447G>C (n.*447G>C)
c.378+3390G>C
c.455G>C (p.Arg152Pro)
n.848G>C
n.648G>C
14g.93218671G=CA2155441068UBR7c.746G= (p.Arg249=)
c.518G= (p.Arg173=)
c.*447G= (n.*447G=)
c.378+3390G=
c.455G= (p.Arg152=)
n.848G=
n.648G=
14g.93218671G>TCA390811155UBR7c.746G>T (p.Arg249Leu)
c.518G>T (p.Arg173Leu)
c.*447G>T (n.*447G>T)
c.378+3390G>T
c.455G>T (p.Arg152Leu)
n.848G>T
n.648G>T
14g.93218672G>ACA487594121UBR7c.747G>A (p.Arg249=)
c.519G>A (p.Arg173=)
c.*448G>A (n.*448G>A)
c.378+3391G>A
c.456G>A (p.Arg152=)
n.849G>A
n.649G>A
14g.93218672G>CCA487594122UBR7c.747G>C (p.Arg249=)
c.519G>C (p.Arg173=)
c.*448G>C (n.*448G>C)
c.378+3391G>C
c.456G>C (p.Arg152=)
n.849G>C
n.649G>C
14g.93218672G>TCA487594123UBR7c.747G>T (p.Arg249=)
c.519G>T (p.Arg173=)
c.*448G>T (n.*448G>T)
c.378+3391G>T
c.456G>T (p.Arg152=)
n.849G>T
n.649G>T
14g.93218674_93218676delCA2802634127UBR7c.749_751del (p.Glu250del)
c.521_523del (p.Glu174del)
c.*450_*452del (n.*450_*452del)
c.378+3393_378+3395del
n.851_853del
n.651_653del
14g.93218673G>ACA390811158UBR7c.748G>A (p.Glu250Lys)
c.520G>A (p.Glu174Lys)
c.*449G>A (n.*449G>A)
c.378+3392G>A
c.457G>A
n.850G>A
n.650G>A
 dbSNP gnomAD v4
14g.93218673G>CCA390811160UBR7c.748G>C (p.Glu250Gln)
c.520G>C (p.Glu174Gln)
c.*449G>C (n.*449G>C)
c.378+3392G>C
c.457G>C
n.850G>C
n.650G>C
14g.93218673G=CA2155441069UBR7c.748G= (p.Glu250=)
c.520G= (p.Glu174=)
c.*449G= (n.*449G=)
c.378+3392G=
c.457G=
n.850G=
n.650G=
14g.93218673G>TCA390811162UBR7c.748G>T (p.Glu250Ter)
c.520G>T (p.Glu174Ter)
c.*449G>T (n.*449G>T)
c.378+3392G>T
c.457G>T
n.850G>T
n.650G>T
14g.93218674A=CA2155441070UBR7c.749A= (p.Glu250=)
c.521A= (p.Glu174=)
c.*450A= (n.*450A=)
c.378+3393A=
c.458A=
n.851A=
n.651A=
14g.93218674A>CCA390811164UBR7c.749A>C (p.Glu250Ala)
c.521A>C (p.Glu174Ala)
c.*450A>C (n.*450A>C)
c.378+3393A>C
c.458A>C
n.851A>C
n.651A>C
14g.93218674A>GCA390811168UBR7c.749A>G (p.Glu250Gly)
c.521A>G (p.Glu174Gly)
c.*450A>G (n.*450A>G)
c.378+3393A>G
c.458A>G
n.851A>G
n.651A>G
 dbSNP
14g.93218674A>TCA390811170UBR7c.749A>T (p.Glu250Val)
c.521A>T (p.Glu174Val)
c.*450A>T (n.*450A>T)
c.378+3393A>T
c.458A>T
n.851A>T
n.651A>T
14g.93218675G>ACA487594124UBR7c.750G>A (p.Glu250=)
c.522G>A (p.Glu174=)
c.*451G>A (n.*451G>A)
c.378+3394G>A
n.852G>A
n.652G>A
 gnomAD v4
14g.93218675G>CCA390811172UBR7c.750G>C (p.Glu250Asp)
c.522G>C (p.Glu174Asp)
c.*451G>C (n.*451G>C)
c.378+3394G>C
n.852G>C
n.652G>C
 gnomAD v4
14g.93218675G>TCA390811173UBR7c.750G>T (p.Glu250Asp)
c.522G>T (p.Glu174Asp)
c.*451G>T (n.*451G>T)
c.378+3394G>T
n.852G>T
n.652G>T
14g.93218676G>ACA390811176UBR7c.751G>A (p.Val251Ile)
c.523G>A (p.Val175Ile)
c.*452G>A (n.*452G>A)
c.378+3395G>A
n.853G>A
n.653G>A
14g.93218676G>CCA390811178UBR7c.751G>C (p.Val251Leu)
c.523G>C (p.Val175Leu)
c.*452G>C (n.*452G>C)
c.378+3395G>C
n.853G>C
n.653G>C
14g.93218676G>TCA390811179UBR7c.751G>T (p.Val251Phe)
c.523G>T (p.Val175Phe)
c.*452G>T (n.*452G>T)
c.378+3395G>T
n.853G>T
n.653G>T
14g.93218677T>ACA390811181UBR7c.752T>A (p.Val251Asp)
c.524T>A (p.Val175Asp)
c.*453T>A (n.*453T>A)
c.378+3396T>A
n.854T>A
n.654T>A
14g.93218677T>CCA390811184UBR7c.752T>C (p.Val251Ala)
c.524T>C (p.Val175Ala)
c.*453T>C (n.*453T>C)
c.378+3396T>C
n.854T>C
n.654T>C
14g.93218677T>GCA390811182UBR7c.752T>G (p.Val251Gly)
c.524T>G (p.Val175Gly)
c.*453T>G (n.*453T>G)
c.378+3396T>G
n.854T>G
n.654T>G
14g.93218678T>ACA487594125UBR7c.753T>A (p.Val251=)
c.525T>A (p.Val175=)
c.*454T>A (n.*454T>A)
c.378+3397T>A
n.855T>A
n.655T>A
14g.93218678T>CCA487594126UBR7c.753T>C (p.Val251=)
c.525T>C (p.Val175=)
c.*454T>C (n.*454T>C)
c.378+3397T>C
n.855T>C
n.655T>C
14g.93218678T>GCA487594127UBR7c.753T>G (p.Val251=)
c.525T>G (p.Val175=)
c.*454T>G (n.*454T>G)
c.378+3397T>G
n.855T>G
n.655T>G
14g.93218679A>CCA390811186UBR7c.754A>C (p.Lys252Gln)
c.526A>C (p.Lys176Gln)
c.*455A>C (n.*455A>C)
c.378+3398A>C
n.856A>C
n.656A>C
14g.93218679A>GCA390811187UBR7c.754A>G (p.Lys252Glu)
c.526A>G (p.Lys176Glu)
c.*455A>G (n.*455A>G)
c.378+3398A>G
n.856A>G
n.656A>G
 gnomAD v4
14g.93218679A>TCA390811188UBR7c.754A>T (p.Lys252Ter)
c.526A>T (p.Lys176Ter)
c.*455A>T (n.*455A>T)
c.378+3398A>T
n.856A>T
n.656A>T
14g.93218679_93218682delCA2802634128UBR7c.754_757del (p.Lys252Ter)
c.526_529del (p.Lys176Ter)
c.*455_*458del (n.*455_*458del)
c.378+3398_378+3401del
n.856_859del
n.656_659del
14g.93218680A=CA2155441071UBR7c.755A= (p.Lys252=)
c.527A= (p.Lys176=)
c.*456A= (n.*456A=)
c.378+3399A=
n.857A=
n.657A=
14g.93218680A>CCA7319920UBR7c.755A>C (p.Lys252Thr)
c.527A>C (p.Lys176Thr)
c.*456A>C (n.*456A>C)
c.378+3399A>C
n.857A>C
n.657A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.93218680A>GCA390811191UBR7c.755A>G (p.Lys252Arg)
c.527A>G (p.Lys176Arg)
c.*456A>G (n.*456A>G)
c.378+3399A>G
n.857A>G
n.657A>G
14g.93218680A>TCA390811192UBR7c.755A>T (p.Lys252Ile)
c.527A>T (p.Lys176Ile)
c.*456A>T (n.*456A>T)
c.378+3399A>T
n.857A>T
n.657A>T
14g.93218681A>CCA390811195UBR7c.756A>C (p.Lys252Asn)
c.528A>C (p.Lys176Asn)
c.*457A>C (n.*457A>C)
c.378+3400A>C
c.1A>C
n.858A>C
n.658A>C
14g.93218681A>GCA487594128UBR7c.756A>G (p.Lys252=)
c.528A>G (p.Lys176=)
c.*457A>G (n.*457A>G)
c.378+3400A>G
c.1A>G
n.858A>G
n.658A>G
14g.93218681A>TCA390811193UBR7c.756A>T (p.Lys252Asn)
c.528A>T (p.Lys176Asn)
c.*457A>T (n.*457A>T)
c.378+3400A>T
c.1A>T
n.858A>T
n.658A>T
14g.93218682G>ACA390811198UBR7c.757G>A (p.Val253Ile)
c.529G>A (p.Val177Ile)
c.*458G>A (n.*458G>A)
c.378+3401G>A
c.2G>A
n.859G>A
n.659G>A
14g.93218682G>CCA390811199UBR7c.757G>C (p.Val253Leu)
c.529G>C (p.Val177Leu)
c.*458G>C (n.*458G>C)
c.378+3401G>C
c.2G>C
n.859G>C
n.659G>C
14g.93218682G=CA2155441072UBR7c.757G= (p.Val253=)
c.529G= (p.Val177=)
c.*458G= (n.*458G=)
c.378+3401G=
c.2G=
n.859G=
n.659G=
14g.93218682G>TCA390811201UBR7c.757G>T (p.Val253Leu)
c.529G>T (p.Val177Leu)
c.*458G>T (n.*458G>T)
c.378+3401G>T
c.2G>T
n.859G>T
n.659G>T
14g.93218682_93218683insAAACA919480347UBR7c.757_758insAAA (p.Val253delinsGluIle)
c.529_530insAAA (p.Val177delinsGluIle)
c.*458_*459insAAA (n.*458_*459insAAA)
c.378+3401_378+3402insAAA
c.2_3insAAA
n.859_860insAAA
n.659_660insAAA
 dbSNP
14g.93218683T>ACA390811202UBR7c.758T>A (p.Val253Glu)
c.530T>A (p.Val177Glu)
c.*459T>A (n.*459T>A)
c.378+3402T>A
c.3T>A
n.860T>A
n.660T>A
 dbSNP
14g.93218683T>CCA390811204UBR7c.758T>C (p.Val253Ala)
c.530T>C (p.Val177Ala)
c.*459T>C (n.*459T>C)
c.378+3402T>C
c.3T>C
n.860T>C
n.660T>C
 gnomAD v4
14g.93218683T>GCA390811206UBR7c.758T>G (p.Val253Gly)
c.530T>G (p.Val177Gly)
c.*459T>G (n.*459T>G)
c.378+3402T>G
c.3T>G
n.860T>G
n.660T>G
14g.93218683T=CA2155441073UBR7c.758T= (p.Val253=)
c.530T= (p.Val177=)
c.*459T= (n.*459T=)
c.378+3402T=
c.3T=
n.860T=
n.660T=
14g.93218684delCA2802634129UBR7c.759del (p.Glu254SerfsTer?)
c.531del (p.Glu178SerfsTer?)
c.*460del (n.*460del)
c.378+3403del
c.4del
n.861del
n.661del
14g.93218684A=CA2155441074UBR7c.759A= (p.Val253=)
c.531A= (p.Val177=)
c.*460A= (n.*460A=)
c.378+3403A=
c.4A=
n.861A=
n.661A=
14g.93218684A>CCA487594129UBR7c.759A>C (p.Val253=)
c.531A>C (p.Val177=)
c.*460A>C (n.*460A>C)
c.378+3403A>C
c.4A>C
n.861A>C
n.661A>C
14g.93218684A>GCA487594130UBR7c.759A>G (p.Val253=)
c.531A>G (p.Val177=)
c.*460A>G (n.*460A>G)
c.378+3403A>G
c.4A>G
n.861A>G
n.661A>G
 dbSNP gnomAD v3 gnomAD v4
14g.93218684A>TCA487594131UBR7c.759A>T (p.Val253=)
c.531A>T (p.Val177=)
c.*460A>T (n.*460A>T)
c.378+3403A>T
c.4A>T
n.861A>T
n.661A>T
14g.93218685G>ACA390811212UBR7c.760G>A (p.Glu254Lys)
c.532G>A (p.Glu178Lys)
c.*461G>A (n.*461G>A)
c.378+3404G>A
c.5G>A
n.862G>A
n.662G>A
 dbSNP
14g.93218685G>CCA390811207UBR7c.760G>C (p.Glu254Gln)
c.532G>C (p.Glu178Gln)
c.*461G>C (n.*461G>C)
c.378+3404G>C
c.5G>C
n.862G>C
n.662G>C
14g.93218685G=CA2155441075UBR7c.760G= (p.Glu254=)
c.532G= (p.Glu178=)
c.*461G= (n.*461G=)
c.378+3404G=
c.5G=
n.862G=
n.662G=
14g.93218685G>TCA390811209UBR7c.760G>T (p.Glu254Ter)
c.532G>T (p.Glu178Ter)
c.*461G>T (n.*461G>T)
c.378+3404G>T
c.5G>T
n.862G>T
n.662G>T
14g.93218686A>CCA390811215UBR7c.761A>C (p.Glu254Ala)
c.533A>C (p.Glu178Ala)
c.*462A>C (n.*462A>C)
c.378+3405A>C
c.6A>C
n.863A>C
n.663A>C
14g.93218686A>GCA390811216UBR7c.761A>G (p.Glu254Gly)
c.533A>G (p.Glu178Gly)
c.*462A>G (n.*462A>G)
c.378+3405A>G
c.6A>G
n.863A>G
n.663A>G
 gnomAD v4
14g.93218686A>TCA390811218UBR7c.761A>T (p.Glu254Val)
c.533A>T (p.Glu178Val)
c.*462A>T (n.*462A>T)
c.378+3405A>T
c.6A>T
n.863A>T
n.663A>T
14g.93218686_93218688delinsAGCCA2155441076UBR7c.761_763delinsAGC (p.Glu254=)
c.533_535delinsAGC (p.Glu178=)
c.*462_*464delinsAGC (n.*462_*464delinsAGC)
c.378+3405_378+3407delinsAGC
c.6_8delinsAGC
n.863_865delinsAGC
n.663_665delinsAGC
14g.93218688_93218690delCA2802634130UBR7c.763_765del (p.Gln255del)
c.535_537del (p.Gln179del)
c.*464_*466del (n.*464_*466del)
c.378+3407_378+3409del
c.8_10del
n.865_867del
n.665_667del
14g.93218687G>ACA487594132UBR7c.762G>A (p.Glu254=)
c.534G>A (p.Glu178=)
c.*463G>A (n.*463G>A)
c.378+3406G>A
c.7G>A
n.864G>A
n.664G>A
 gnomAD v4
14g.93218687G>CCA390811219UBR7c.762G>C (p.Glu254Asp)
c.534G>C (p.Glu178Asp)
c.*463G>C (n.*463G>C)
c.378+3406G>C
c.7G>C
n.864G>C
n.664G>C
14g.93218687G>TCA390811221UBR7c.762G>T (p.Glu254Asp)
c.534G>T (p.Glu178Asp)
c.*463G>T (n.*463G>T)
c.378+3406G>T
c.7G>T
n.864G>T
n.664G>T
14g.93218687_93218688delCA919480348UBR7c.762_763del (p.Gln255GlufsTer3)
c.534_535del (p.Gln179GlufsTer3)
c.*463_*464del (n.*463_*464del)
c.378+3406_378+3407del
c.7_8del
n.864_865del
n.664_665del
 dbSNP
14g.93218688C>ACA390811223UBR7c.763C>A (p.Gln255Lys)
c.535C>A (p.Gln179Lys)
c.*464C>A (n.*464C>A)
c.378+3407C>A
c.8C>A
n.865C>A
n.665C>A
14g.93218688C>GCA390811225UBR7c.763C>G (p.Gln255Glu)
c.535C>G (p.Gln179Glu)
c.*464C>G (n.*464C>G)
c.378+3407C>G
c.8C>G
n.865C>G
n.665C>G
14g.93218688C>TCA390811227UBR7c.763C>T (p.Gln255Ter)
c.535C>T (p.Gln179Ter)
c.*464C>T (n.*464C>T)
c.378+3407C>T
c.8C>T
n.865C>T
n.665C>T
14g.93218689A>CCA390811229UBR7c.764A>C (p.Gln255Pro)
c.536A>C (p.Gln179Pro)
c.*465A>C (n.*465A>C)
c.378+3408A>C
c.9A>C
n.866A>C
n.666A>C
14g.93218689A>GCA390811230UBR7c.764A>G (p.Gln255Arg)
c.536A>G (p.Gln179Arg)
c.*465A>G (n.*465A>G)
c.378+3408A>G
c.9A>G
n.866A>G
n.666A>G
14g.93218689A>TCA390811231UBR7c.764A>T (p.Gln255Leu)
c.536A>T (p.Gln179Leu)
c.*465A>T (n.*465A>T)
c.378+3408A>T
c.9A>T
n.866A>T
n.666A>T

Number of alleles fetched