Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.71438884_71438890delinsGGACGTTCA1981488536DHCR7c.820_826delinsAACGTCC (p.Asn274=)
c.646_652delinsAACGTCC (p.Asn216=)
c.871_877delinsAACGTCC (p.Asn291=)
c.856_862delinsAACGTCC (p.Asn286=)
n.860_866delinsAACGTCC
c.235_241delinsAACGTCC (p.Asn79=)
c.724_730delinsAACGTCC (p.Asn242=)
c.187_193delinsAACGTCC (p.Asn63=)
c.70_76delinsAACGTCC (p.Asn24=)
n.315_321delinsAACGTCC
c.176_182delinsAACGTCC
11g.71438888_71438893delCA6162448DHCR7c.820_825del (p.Asn274_Val275del)
c.646_651del (p.Asn216_Val217del)
c.871_876del (p.Asn291_Val292del)
c.856_861del (p.Asn286_Val287del)
n.860_865del
c.235_240del (p.Asn79_Val80del)
c.724_729del (p.Asn242_Val243del)
c.187_192del (p.Asn63_Val64del)
c.70_75del (p.Asn24_Val25del)
n.315_320del
c.176_181del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438888G>ACA6162450DHCR7c.822C>T (p.Asn274=)
c.648C>T (p.Asn216=)
c.873C>T (p.Asn291=)
c.858C>T (p.Asn286=)
n.862C>T
c.237C>T (p.Asn79=)
c.726C>T (p.Asn242=)
c.189C>T (p.Asn63=)
c.72C>T (p.Asn24=)
n.317C>T
c.178C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438888G>CCA381703203DHCR7c.822C>G (p.Asn274Lys)
c.648C>G (p.Asn216Lys)
c.873C>G (p.Asn291Lys)
c.858C>G (p.Asn286Lys)
n.862C>G
c.237C>G (p.Asn79Lys)
c.726C>G (p.Asn242Lys)
c.189C>G (p.Asn63Lys)
c.72C>G (p.Asn24Lys)
n.317C>G
c.178C>G
11g.71438888G=CA1981488540DHCR7c.822C= (p.Asn274=)
c.648C= (p.Asn216=)
c.873C= (p.Asn291=)
c.858C= (p.Asn286=)
n.862C=
c.237C= (p.Asn79=)
c.726C= (p.Asn242=)
c.189C= (p.Asn63=)
c.72C= (p.Asn24=)
n.317C=
c.178C=
11g.71438888G>TCA6162451DHCR7c.822C>A (p.Asn274Lys)
c.648C>A (p.Asn216Lys)
c.873C>A (p.Asn291Lys)
c.858C>A (p.Asn286Lys)
n.862C>A
c.237C>A (p.Asn79Lys)
c.726C>A (p.Asn242Lys)
c.189C>A (p.Asn63Lys)
c.72C>A (p.Asn24Lys)
n.317C>A
c.178C>A
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
11g.71438889T>ACA381703204DHCR7c.821A>T (p.Asn274Ile)
c.647A>T (p.Asn216Ile)
c.872A>T (p.Asn291Ile)
c.857A>T (p.Asn286Ile)
n.861A>T
c.236A>T (p.Asn79Ile)
c.725A>T (p.Asn242Ile)
c.188A>T (p.Asn63Ile)
c.71A>T (p.Asn24Ile)
n.316A>T
c.177A>T
11g.71438889T>CCA381703205DHCR7c.821A>G (p.Asn274Ser)
c.647A>G (p.Asn216Ser)
c.872A>G (p.Asn291Ser)
c.857A>G (p.Asn286Ser)
n.861A>G
c.236A>G (p.Asn79Ser)
c.725A>G (p.Asn242Ser)
c.188A>G (p.Asn63Ser)
c.71A>G (p.Asn24Ser)
n.316A>G
c.177A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71438889T>GCA6162452DHCR7c.821A>C (p.Asn274Thr)
c.647A>C (p.Asn216Thr)
c.872A>C (p.Asn291Thr)
c.857A>C (p.Asn286Thr)
n.861A>C
c.236A>C (p.Asn79Thr)
c.725A>C (p.Asn242Thr)
c.188A>C (p.Asn63Thr)
c.71A>C (p.Asn24Thr)
n.316A>C
c.177A>C
 ClinVar dbSNP ExAC gnomAD v2
11g.71438889T=CA1981488541DHCR7c.821A= (p.Asn274=)
c.647A= (p.Asn216=)
c.872A= (p.Asn291=)
c.857A= (p.Asn286=)
n.861A=
c.236A= (p.Asn79=)
c.725A= (p.Asn242=)
c.188A= (p.Asn63=)
c.71A= (p.Asn24=)
n.316A=
c.177A=
11g.71438890T>ACA381703208DHCR7c.820A>T (p.Asn274Tyr)
c.646A>T (p.Asn216Tyr)
c.871A>T (p.Asn291Tyr)
c.856A>T (p.Asn286Tyr)
n.860A>T
c.235A>T (p.Asn79Tyr)
c.724A>T (p.Asn242Tyr)
c.187A>T (p.Asn63Tyr)
c.70A>T (p.Asn24Tyr)
n.315A>T
c.176A>T
11g.71438890T>CCA381703207DHCR7c.820A>G (p.Asn274Asp)
c.646A>G (p.Asn216Asp)
c.871A>G (p.Asn291Asp)
c.856A>G (p.Asn286Asp)
n.860A>G
c.235A>G (p.Asn79Asp)
c.724A>G (p.Asn242Asp)
c.187A>G (p.Asn63Asp)
c.70A>G (p.Asn24Asp)
n.315A>G
c.176A>G
11g.71438890T>GCA381703206DHCR7c.820A>C (p.Asn274His)
c.646A>C (p.Asn216His)
c.871A>C (p.Asn291His)
c.856A>C (p.Asn286His)
n.860A>C
c.235A>C (p.Asn79His)
c.724A>C (p.Asn242His)
c.187A>C (p.Asn63His)
c.70A>C (p.Asn24His)
n.315A>C
c.176A>C
11g.71438891G>ACA475569216DHCR7c.819C>T (p.Val273=)
c.645C>T (p.Val215=)
c.870C>T (p.Val290=)
c.855C>T (p.Val285=)
n.859C>T
c.234C>T (p.Val78=)
c.723C>T (p.Val241=)
c.186C>T (p.Val62=)
c.69C>T (p.Val23=)
n.314C>T
c.175C>T
11g.71438891G>CCA475569218DHCR7c.819C>G (p.Val273=)
c.645C>G (p.Val215=)
c.870C>G (p.Val290=)
c.855C>G (p.Val285=)
n.859C>G
c.234C>G (p.Val78=)
c.723C>G (p.Val241=)
c.186C>G (p.Val62=)
c.69C>G (p.Val23=)
n.314C>G
c.175C>G
 gnomAD v4
11g.71438891G>TCA475569219DHCR7c.819C>A (p.Val273=)
c.645C>A (p.Val215=)
c.870C>A (p.Val290=)
c.855C>A (p.Val285=)
n.859C>A
c.234C>A (p.Val78=)
c.723C>A (p.Val241=)
c.186C>A (p.Val62=)
c.69C>A (p.Val23=)
n.314C>A
c.175C>A
11g.71438892A>CCA381703209DHCR7c.818T>G (p.Val273Gly)
c.644T>G (p.Val215Gly)
c.869T>G (p.Val290Gly)
c.854T>G (p.Val285Gly)
n.858T>G
c.233T>G (p.Val78Gly)
c.722T>G (p.Val241Gly)
c.185T>G (p.Val62Gly)
c.68T>G (p.Val23Gly)
n.313T>G
c.174T>G
 ClinVar
11g.71438892A>GCA381703210DHCR7c.818T>C (p.Val273Ala)
c.644T>C (p.Val215Ala)
c.869T>C (p.Val290Ala)
c.854T>C (p.Val285Ala)
n.858T>C
c.233T>C (p.Val78Ala)
c.722T>C (p.Val241Ala)
c.185T>C (p.Val62Ala)
c.68T>C (p.Val23Ala)
n.313T>C
c.174T>C
11g.71438892A>TCA381703211DHCR7c.818T>A (p.Val273Asp)
c.644T>A (p.Val215Asp)
c.869T>A (p.Val290Asp)
c.854T>A (p.Val285Asp)
n.858T>A
c.233T>A (p.Val78Asp)
c.722T>A (p.Val241Asp)
c.185T>A (p.Val62Asp)
c.68T>A (p.Val23Asp)
n.313T>A
c.174T>A
11g.71438893C>ACA381703212DHCR7c.817G>T (p.Val273Phe)
c.643G>T (p.Val215Phe)
c.868G>T (p.Val290Phe)
c.853G>T (p.Val285Phe)
n.857G>T
c.232G>T (p.Val78Phe)
c.721G>T (p.Val241Phe)
c.184G>T (p.Val62Phe)
c.67G>T (p.Val23Phe)
n.312G>T
c.173G>T
11g.71438893C>GCA381703213DHCR7c.817G>C (p.Val273Leu)
c.643G>C (p.Val215Leu)
c.868G>C (p.Val290Leu)
c.853G>C (p.Val285Leu)
n.857G>C
c.232G>C (p.Val78Leu)
c.721G>C (p.Val241Leu)
c.184G>C (p.Val62Leu)
c.67G>C (p.Val23Leu)
n.312G>C
c.173G>C
11g.71438893C>TCA381703214DHCR7c.817G>A (p.Val273Ile)
c.643G>A (p.Val215Ile)
c.868G>A (p.Val290Ile)
c.853G>A (p.Val285Ile)
n.857G>A
c.232G>A (p.Val78Ile)
c.721G>A (p.Val241Ile)
c.184G>A (p.Val62Ile)
c.67G>A (p.Val23Ile)
n.312G>A
c.173G>A
 ClinVar
11g.71438894C>ACA475569232DHCR7c.816G>T (p.Leu272=)
c.642G>T (p.Leu214=)
c.867G>T (p.Leu289=)
c.852G>T (p.Leu284=)
n.856G>T
c.231G>T (p.Leu77=)
c.720G>T (p.Leu240=)
c.183G>T (p.Leu61=)
c.66G>T (p.Leu22=)
n.311G>T
c.172G>T
 ClinVar
11g.71438894C=CA1981488542DHCR7c.816G= (p.Leu272=)
c.642G= (p.Leu214=)
c.867G= (p.Leu289=)
c.852G= (p.Leu284=)
n.856G=
c.231G= (p.Leu77=)
c.720G= (p.Leu240=)
c.183G= (p.Leu61=)
c.66G= (p.Leu22=)
n.311G=
c.172G=
11g.71438894C>GCA475569234DHCR7c.816G>C (p.Leu272=)
c.642G>C (p.Leu214=)
c.867G>C (p.Leu289=)
c.852G>C (p.Leu284=)
n.856G>C
c.231G>C (p.Leu77=)
c.720G>C (p.Leu240=)
c.183G>C (p.Leu61=)
c.66G>C (p.Leu22=)
n.311G>C
c.172G>C
11g.71438894C>TCA6162453DHCR7c.816G>A (p.Leu272=)
c.642G>A (p.Leu214=)
c.867G>A (p.Leu289=)
c.852G>A (p.Leu284=)
n.856G>A
c.231G>A (p.Leu77=)
c.720G>A (p.Leu240=)
c.183G>A (p.Leu61=)
c.66G>A (p.Leu22=)
n.311G>A
c.172G>A
 dbSNP ExAC gnomAD v2
11g.71438895A>CCA381703215DHCR7c.815T>G (p.Leu272Arg)
c.641T>G (p.Leu214Arg)
c.866T>G (p.Leu289Arg)
c.851T>G (p.Leu284Arg)
n.855T>G
c.230T>G (p.Leu77Arg)
c.719T>G (p.Leu240Arg)
c.182T>G (p.Leu61Arg)
c.65T>G (p.Leu22Arg)
n.310T>G
c.171T>G
 COSMIC COSMIC
11g.71438895A>GCA381703216DHCR7c.815T>C (p.Leu272Pro)
c.641T>C (p.Leu214Pro)
c.866T>C (p.Leu289Pro)
c.851T>C (p.Leu284Pro)
n.855T>C
c.230T>C (p.Leu77Pro)
c.719T>C (p.Leu240Pro)
c.182T>C (p.Leu61Pro)
c.65T>C (p.Leu22Pro)
n.310T>C
c.171T>C
11g.71438895A>TCA381703217DHCR7c.815T>A (p.Leu272Gln)
c.641T>A (p.Leu214Gln)
c.866T>A (p.Leu289Gln)
c.851T>A (p.Leu284Gln)
n.855T>A
c.230T>A (p.Leu77Gln)
c.719T>A (p.Leu240Gln)
c.182T>A (p.Leu61Gln)
c.65T>A (p.Leu22Gln)
n.310T>A
c.171T>A
11g.71438896G>ACA6162454DHCR7c.814C>T (p.Leu272=)
c.640C>T (p.Leu214=)
c.865C>T (p.Leu289=)
c.850C>T (p.Leu284=)
n.854C>T
c.229C>T (p.Leu77=)
c.718C>T (p.Leu240=)
c.181C>T (p.Leu61=)
c.64C>T (p.Leu22=)
n.309C>T
c.170C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438896G>CCA381703218DHCR7c.814C>G (p.Leu272Val)
c.640C>G (p.Leu214Val)
c.865C>G (p.Leu289Val)
c.850C>G (p.Leu284Val)
n.854C>G
c.229C>G (p.Leu77Val)
c.718C>G (p.Leu240Val)
c.181C>G (p.Leu61Val)
c.64C>G (p.Leu22Val)
n.309C>G
c.170C>G
 gnomAD v4
11g.71438896G=CA1981488543DHCR7c.814C= (p.Leu272=)
c.640C= (p.Leu214=)
c.865C= (p.Leu289=)
c.850C= (p.Leu284=)
n.854C=
c.229C= (p.Leu77=)
c.718C= (p.Leu240=)
c.181C= (p.Leu61=)
c.64C= (p.Leu22=)
n.309C=
c.170C=
11g.71438896G>TCA381703219DHCR7c.814C>A (p.Leu272Met)
c.640C>A (p.Leu214Met)
c.865C>A (p.Leu289Met)
c.850C>A (p.Leu284Met)
n.854C>A
c.229C>A (p.Leu77Met)
c.718C>A (p.Leu240Met)
c.181C>A (p.Leu61Met)
c.64C>A (p.Leu22Met)
n.309C>A
c.170C>A
11g.71438897G>ACA475569263DHCR7c.813C>T (p.Val271=)
c.639C>T (p.Val213=)
c.864C>T (p.Val288=)
c.849C>T (p.Val283=)
n.853C>T
c.228C>T (p.Val76=)
c.717C>T (p.Val239=)
c.180C>T (p.Val60=)
c.63C>T (p.Val21=)
n.308C>T
c.169C>T
 gnomAD v4
11g.71438897G>CCA475569266DHCR7c.813C>G (p.Val271=)
c.639C>G (p.Val213=)
c.864C>G (p.Val288=)
c.849C>G (p.Val283=)
n.853C>G
c.228C>G (p.Val76=)
c.717C>G (p.Val239=)
c.180C>G (p.Val60=)
c.63C>G (p.Val21=)
n.308C>G
c.169C>G
11g.71438897G>TCA475569269DHCR7c.813C>A (p.Val271=)
c.639C>A (p.Val213=)
c.864C>A (p.Val288=)
c.849C>A (p.Val283=)
n.853C>A
c.228C>A (p.Val76=)
c.717C>A (p.Val239=)
c.180C>A (p.Val60=)
c.63C>A (p.Val21=)
n.308C>A
c.169C>A
11g.71438898A=CA1981488544DHCR7c.812T= (p.Val271=)
c.638T= (p.Val213=)
c.863T= (p.Val288=)
c.848T= (p.Val283=)
n.852T=
c.227T= (p.Val76=)
c.716T= (p.Val239=)
c.179T= (p.Val60=)
c.62T= (p.Val21=)
n.307T=
c.168T=
11g.71438898A>CCA381703221DHCR7c.812T>G (p.Val271Gly)
c.638T>G (p.Val213Gly)
c.863T>G (p.Val288Gly)
c.848T>G (p.Val283Gly)
n.852T>G
c.227T>G (p.Val76Gly)
c.716T>G (p.Val239Gly)
c.179T>G (p.Val60Gly)
c.62T>G (p.Val21Gly)
n.307T>G
c.168T>G
11g.71438898A>GCA381703222DHCR7c.812T>C (p.Val271Ala)
c.638T>C (p.Val213Ala)
c.863T>C (p.Val288Ala)
c.848T>C (p.Val283Ala)
n.852T>C
c.227T>C (p.Val76Ala)
c.716T>C (p.Val239Ala)
c.179T>C (p.Val60Ala)
c.62T>C (p.Val21Ala)
n.307T>C
c.168T>C
 dbSNP
11g.71438898A>TCA381703220DHCR7c.812T>A (p.Val271Asp)
c.638T>A (p.Val213Asp)
c.863T>A (p.Val288Asp)
c.848T>A (p.Val283Asp)
n.852T>A
c.227T>A (p.Val76Asp)
c.716T>A (p.Val239Asp)
c.179T>A (p.Val60Asp)
c.62T>A (p.Val21Asp)
n.307T>A
c.168T>A
11g.71438899C>ACA381703223DHCR7c.811G>T (p.Val271Phe)
c.637G>T (p.Val213Phe)
c.862G>T (p.Val288Phe)
c.847G>T (p.Val283Phe)
n.851G>T
c.226G>T (p.Val76Phe)
c.715G>T (p.Val239Phe)
c.178G>T (p.Val60Phe)
c.61G>T (p.Val21Phe)
n.306G>T
c.167G>T
11g.71438899C>GCA381703224DHCR7c.811G>C (p.Val271Leu)
c.637G>C (p.Val213Leu)
c.862G>C (p.Val288Leu)
c.847G>C (p.Val283Leu)
n.851G>C
c.226G>C (p.Val76Leu)
c.715G>C (p.Val239Leu)
c.178G>C (p.Val60Leu)
c.61G>C (p.Val21Leu)
n.306G>C
c.167G>C
11g.71438899C>TCA381703225DHCR7c.811G>A (p.Val271Ile)
c.637G>A (p.Val213Ile)
c.862G>A (p.Val288Ile)
c.847G>A (p.Val283Ile)
n.851G>A
c.226G>A (p.Val76Ile)
c.715G>A (p.Val239Ile)
c.178G>A (p.Val60Ile)
c.61G>A (p.Val21Ile)
n.306G>A
c.167G>A
 gnomAD v4
11g.71438900C>ACA381703226DHCR7c.810G>T (p.Met270Ile)
c.636G>T (p.Met212Ile)
c.861G>T (p.Met287Ile)
c.846G>T (p.Met282Ile)
n.850G>T
c.225G>T (p.Met75Ile)
c.714G>T (p.Met238Ile)
c.177G>T (p.Met59Ile)
c.60G>T (p.Met20Ile)
n.305G>T
c.166G>T
11g.71438900C>GCA381703227DHCR7c.810G>C (p.Met270Ile)
c.636G>C (p.Met212Ile)
c.861G>C (p.Met287Ile)
c.846G>C (p.Met282Ile)
n.850G>C
c.225G>C (p.Met75Ile)
c.714G>C (p.Met238Ile)
c.177G>C (p.Met59Ile)
c.60G>C (p.Met20Ile)
n.305G>C
c.166G>C
11g.71438900C>TCA381703228DHCR7c.810G>A (p.Met270Ile)
c.636G>A (p.Met212Ile)
c.861G>A (p.Met287Ile)
c.846G>A (p.Met282Ile)
n.850G>A
c.225G>A (p.Met75Ile)
c.714G>A (p.Met238Ile)
c.177G>A (p.Met59Ile)
c.60G>A (p.Met20Ile)
n.305G>A
c.166G>A
 gnomAD v4
11g.71438901A=CA1981488545DHCR7c.809T= (p.Met270=)
c.635T= (p.Met212=)
c.860T= (p.Met287=)
c.845T= (p.Met282=)
n.849T=
c.224T= (p.Met75=)
c.713T= (p.Met238=)
c.176T= (p.Met59=)
c.59T= (p.Met20=)
n.304T=
c.165T=
11g.71438901A>CCA381703231DHCR7c.809T>G (p.Met270Arg)
c.635T>G (p.Met212Arg)
c.860T>G (p.Met287Arg)
c.845T>G (p.Met282Arg)
n.849T>G
c.224T>G (p.Met75Arg)
c.713T>G (p.Met238Arg)
c.176T>G (p.Met59Arg)
c.59T>G (p.Met20Arg)
n.304T>G
c.165T>G
11g.71438901A>GCA381703229DHCR7c.809T>C (p.Met270Thr)
c.635T>C (p.Met212Thr)
c.860T>C (p.Met287Thr)
c.845T>C (p.Met282Thr)
n.849T>C
c.224T>C (p.Met75Thr)
c.713T>C (p.Met238Thr)
c.176T>C (p.Met59Thr)
c.59T>C (p.Met20Thr)
n.304T>C
c.165T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71438901A>TCA381703230DHCR7c.809T>A (p.Met270Lys)
c.635T>A (p.Met212Lys)
c.860T>A (p.Met287Lys)
c.845T>A (p.Met282Lys)
n.849T>A
c.224T>A (p.Met75Lys)
c.713T>A (p.Met238Lys)
c.176T>A (p.Met59Lys)
c.59T>A (p.Met20Lys)
n.304T>A
c.165T>A
11g.71438902T>ACA381703232DHCR7c.808A>T (p.Met270Leu)
c.634A>T (p.Met212Leu)
c.859A>T (p.Met287Leu)
c.844A>T (p.Met282Leu)
n.848A>T
c.223A>T (p.Met75Leu)
c.712A>T (p.Met238Leu)
c.175A>T (p.Met59Leu)
c.58A>T (p.Met20Leu)
n.303A>T
c.164A>T
11g.71438902T>CCA381703233DHCR7c.808A>G (p.Met270Val)
c.634A>G (p.Met212Val)
c.859A>G (p.Met287Val)
c.844A>G (p.Met282Val)
n.848A>G
c.223A>G (p.Met75Val)
c.712A>G (p.Met238Val)
c.175A>G (p.Met59Val)
c.58A>G (p.Met20Val)
n.303A>G
c.164A>G
 ClinVar dbSNP gnomAD v4
11g.71438902T>GCA381703234DHCR7c.808A>C (p.Met270Leu)
c.634A>C (p.Met212Leu)
c.859A>C (p.Met287Leu)
c.844A>C (p.Met282Leu)
n.848A>C
c.223A>C (p.Met75Leu)
c.712A>C (p.Met238Leu)
c.175A>C (p.Met59Leu)
c.58A>C (p.Met20Leu)
n.303A>C
c.164A>C
11g.71438902T=CA1981488546DHCR7c.808A= (p.Met270=)
c.634A= (p.Met212=)
c.859A= (p.Met287=)
c.844A= (p.Met282=)
n.848A=
c.223A= (p.Met75=)
c.712A= (p.Met238=)
c.175A= (p.Met59=)
c.58A= (p.Met20=)
n.303A=
c.164A=
11g.71438903G>ACA224327753DHCR7c.807C>T (p.Ala269=)
c.633C>T (p.Ala211=)
c.858C>T (p.Ala286=)
c.843C>T (p.Ala281=)
n.847C>T
c.222C>T (p.Ala74=)
c.711C>T (p.Ala237=)
c.174C>T (p.Ala58=)
c.57C>T (p.Ala19=)
n.302C>T
c.163C>T
 dbSNP
11g.71438903G>CCA475569310DHCR7c.807C>G (p.Ala269=)
c.633C>G (p.Ala211=)
c.858C>G (p.Ala286=)
c.843C>G (p.Ala281=)
n.847C>G
c.222C>G (p.Ala74=)
c.711C>G (p.Ala237=)
c.174C>G (p.Ala58=)
c.57C>G (p.Ala19=)
n.302C>G
c.163C>G
 gnomAD v4
11g.71438903G=CA1981488547DHCR7c.807C= (p.Ala269=)
c.633C= (p.Ala211=)
c.858C= (p.Ala286=)
c.843C= (p.Ala281=)
n.847C=
c.222C= (p.Ala74=)
c.711C= (p.Ala237=)
c.174C= (p.Ala58=)
c.57C= (p.Ala19=)
n.302C=
c.163C=
11g.71438903G>TCA475569311DHCR7c.807C>A (p.Ala269=)
c.633C>A (p.Ala211=)
c.858C>A (p.Ala286=)
c.843C>A (p.Ala281=)
n.847C>A
c.222C>A (p.Ala74=)
c.711C>A (p.Ala237=)
c.174C>A (p.Ala58=)
c.57C>A (p.Ala19=)
n.302C>A
c.163C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71438904G>ACA381703235DHCR7c.806C>T (p.Ala269Val)
c.632C>T (p.Ala211Val)
c.857C>T (p.Ala286Val)
c.842C>T (p.Ala281Val)
n.846C>T
c.221C>T (p.Ala74Val)
c.710C>T (p.Ala237Val)
c.173C>T (p.Ala58Val)
c.56C>T (p.Ala19Val)
n.301C>T
c.162C>T
11g.71438904G>CCA381703236DHCR7c.806C>G (p.Ala269Gly)
c.632C>G (p.Ala211Gly)
c.857C>G (p.Ala286Gly)
c.842C>G (p.Ala281Gly)
n.846C>G
c.221C>G (p.Ala74Gly)
c.710C>G (p.Ala237Gly)
c.173C>G (p.Ala58Gly)
c.56C>G (p.Ala19Gly)
n.301C>G
c.162C>G
11g.71438904G>TCA381703237DHCR7c.806C>A (p.Ala269Asp)
c.632C>A (p.Ala211Asp)
c.857C>A (p.Ala286Asp)
c.842C>A (p.Ala281Asp)
n.846C>A
c.221C>A (p.Ala74Asp)
c.710C>A (p.Ala237Asp)
c.173C>A (p.Ala58Asp)
c.56C>A (p.Ala19Asp)
n.301C>A
c.162C>A
 gnomAD v4
11g.71438905C>ACA381703238DHCR7c.805G>T (p.Ala269Ser)
c.631G>T (p.Ala211Ser)
c.856G>T (p.Ala286Ser)
c.841G>T (p.Ala281Ser)
n.845G>T
c.220G>T (p.Ala74Ser)
c.709G>T (p.Ala237Ser)
c.172G>T (p.Ala58Ser)
c.55G>T (p.Ala19Ser)
n.300G>T
c.161G>T
11g.71438905C>GCA381703240DHCR7c.805G>C (p.Ala269Pro)
c.631G>C (p.Ala211Pro)
c.856G>C (p.Ala286Pro)
c.841G>C (p.Ala281Pro)
n.845G>C
c.220G>C (p.Ala74Pro)
c.709G>C (p.Ala237Pro)
c.172G>C (p.Ala58Pro)
c.55G>C (p.Ala19Pro)
n.300G>C
c.161G>C
11g.71438905C>TCA381703239DHCR7c.805G>A (p.Ala269Thr)
c.631G>A (p.Ala211Thr)
c.856G>A (p.Ala286Thr)
c.841G>A (p.Ala281Thr)
n.845G>A
c.220G>A (p.Ala74Thr)
c.709G>A (p.Ala237Thr)
c.172G>A (p.Ala58Thr)
c.55G>A (p.Ala19Thr)
n.300G>A
c.161G>A
 COSMIC COSMIC
11g.71438905_71438906delinsCACA1981488548DHCR7c.804_805delinsTG (p.Asn268=)
c.630_631delinsTG (p.Asn210=)
c.855_856delinsTG (p.Asn285=)
c.840_841delinsTG (p.Asn280=)
n.844_845delinsTG
c.219_220delinsTG (p.Asn73=)
c.708_709delinsTG (p.Asn236=)
c.171_172delinsTG (p.Asn57=)
c.54_55delinsTG (p.Asn18=)
n.299_300delinsTG
c.160_161delinsTG
11g.71438906delCA16041553DHCR7c.804del (p.Asn268LysfsTer14)
c.630del (p.Asn210LysfsTer14)
c.855del (p.Asn285LysfsTer14)
c.840del (p.Asn280LysfsTer14)
n.844del
c.219del (p.Asn73LysfsTer14)
c.708del (p.Asn236LysfsTer14)
c.171del (p.Asn57LysfsTer14)
c.54del (p.Asn18LysfsTer14)
n.299del
c.160del
 ClinVar dbSNP
11g.71438906A=CA1981488550DHCR7c.804T= (p.Asn268=)
c.630T= (p.Asn210=)
c.855T= (p.Asn285=)
c.840T= (p.Asn280=)
n.844T=
c.219T= (p.Asn73=)
c.708T= (p.Asn236=)
c.171T= (p.Asn57=)
c.54T= (p.Asn18=)
n.299T=
c.160T=
11g.71438906A>CCA6162455DHCR7c.804T>G (p.Asn268Lys)
c.630T>G (p.Asn210Lys)
c.855T>G (p.Asn285Lys)
c.840T>G (p.Asn280Lys)
n.844T>G
c.219T>G (p.Asn73Lys)
c.708T>G (p.Asn236Lys)
c.171T>G (p.Asn57Lys)
c.54T>G (p.Asn18Lys)
n.299T>G
c.160T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438906A>GCA475569348DHCR7c.804T>C (p.Asn268=)
c.630T>C (p.Asn210=)
c.855T>C (p.Asn285=)
c.840T>C (p.Asn280=)
n.844T>C
c.219T>C (p.Asn73=)
c.708T>C (p.Asn236=)
c.171T>C (p.Asn57=)
c.54T>C (p.Asn18=)
n.299T>C
c.160T>C
 ClinVar dbSNP gnomAD v2
11g.71438906A>TCA381703241DHCR7c.804T>A (p.Asn268Lys)
c.630T>A (p.Asn210Lys)
c.855T>A (p.Asn285Lys)
c.840T>A (p.Asn280Lys)
n.844T>A
c.219T>A (p.Asn73Lys)
c.708T>A (p.Asn236Lys)
c.171T>A (p.Asn57Lys)
c.54T>A (p.Asn18Lys)
n.299T>A
c.160T>A
11g.71438906_71438907delCA912973041DHCR7c.803_804del (p.Asn268SerfsTer15)
c.629_630del (p.Asn210SerfsTer15)
c.854_855del (p.Asn285SerfsTer15)
c.839_840del (p.Asn280SerfsTer15)
n.843_844del
c.218_219del (p.Asn73SerfsTer15)
c.707_708del (p.Asn236SerfsTer15)
c.170_171del (p.Asn57SerfsTer15)
c.53_54del (p.Asn18SerfsTer15)
n.298_299del
c.159_160del
11g.71438906_71438907delinsATCA1981488549DHCR7c.803_804delinsAT (p.Asn268=)
c.629_630delinsAT (p.Asn210=)
c.854_855delinsAT (p.Asn285=)
c.839_840delinsAT (p.Asn280=)
n.843_844delinsAT
c.218_219delinsAT (p.Asn73=)
c.707_708delinsAT (p.Asn236=)
c.170_171delinsAT (p.Asn57=)
c.53_54delinsAT (p.Asn18=)
n.298_299delinsAT
c.159_160delinsAT
11g.71438907T>ACA381703242DHCR7c.803A>T (p.Asn268Ile)
c.629A>T (p.Asn210Ile)
c.854A>T (p.Asn285Ile)
c.839A>T (p.Asn280Ile)
n.843A>T
c.218A>T (p.Asn73Ile)
c.707A>T (p.Asn236Ile)
c.170A>T (p.Asn57Ile)
c.53A>T (p.Asn18Ile)
n.298A>T
c.159A>T
11g.71438907T>CCA6162456DHCR7c.803A>G (p.Asn268Ser)
c.629A>G (p.Asn210Ser)
c.854A>G (p.Asn285Ser)
c.839A>G (p.Asn280Ser)
n.843A>G
c.218A>G (p.Asn73Ser)
c.707A>G (p.Asn236Ser)
c.170A>G (p.Asn57Ser)
c.53A>G (p.Asn18Ser)
n.298A>G
c.159A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438907T>GCA381703243DHCR7c.803A>C (p.Asn268Thr)
c.629A>C (p.Asn210Thr)
c.854A>C (p.Asn285Thr)
c.839A>C (p.Asn280Thr)
n.843A>C
c.218A>C (p.Asn73Thr)
c.707A>C (p.Asn236Thr)
c.170A>C (p.Asn57Thr)
c.53A>C (p.Asn18Thr)
n.298A>C
c.159A>C
11g.71438907T=CA1981488551DHCR7c.803A= (p.Asn268=)
c.629A= (p.Asn210=)
c.854A= (p.Asn285=)
c.839A= (p.Asn280=)
n.843A=
c.218A= (p.Asn73=)
c.707A= (p.Asn236=)
c.170A= (p.Asn57=)
c.53A= (p.Asn18=)
n.298A=
c.159A=
11g.71438908delCA658823157DHCR7c.803del (p.Asn268MetfsTer14)
c.629del (p.Asn210MetfsTer14)
c.854del (p.Asn285MetfsTer14)
c.839del (p.Asn280MetfsTer14)
n.843del
c.218del (p.Asn73MetfsTer14)
c.707del (p.Asn236MetfsTer14)
c.170del (p.Asn57MetfsTer14)
c.53del (p.Asn18MetfsTer14)
n.298del
c.159del
 ClinVar dbSNP
11g.71438908T>ACA381703244DHCR7c.802A>T (p.Asn268Tyr)
c.628A>T (p.Asn210Tyr)
c.853A>T (p.Asn285Tyr)
c.838A>T (p.Asn280Tyr)
n.842A>T
c.217A>T (p.Asn73Tyr)
c.706A>T (p.Asn236Tyr)
c.169A>T (p.Asn57Tyr)
c.52A>T (p.Asn18Tyr)
n.297A>T
c.158A>T
11g.71438908T>CCA381703245DHCR7c.802A>G (p.Asn268Asp)
c.628A>G (p.Asn210Asp)
c.853A>G (p.Asn285Asp)
c.838A>G (p.Asn280Asp)
n.842A>G
c.217A>G (p.Asn73Asp)
c.706A>G (p.Asn236Asp)
c.169A>G (p.Asn57Asp)
c.52A>G (p.Asn18Asp)
n.297A>G
c.158A>G
11g.71438908T>GCA381703246DHCR7c.802A>C (p.Asn268His)
c.628A>C (p.Asn210His)
c.853A>C (p.Asn285His)
c.838A>C (p.Asn280His)
n.842A>C
c.217A>C (p.Asn73His)
c.706A>C (p.Asn236His)
c.169A>C (p.Asn57His)
c.52A>C (p.Asn18His)
n.297A>C
c.158A>C
 gnomAD v4
11g.71438909G>ACA475569353DHCR7c.801C>T (p.Thr267=)
c.627C>T (p.Thr209=)
c.852C>T (p.Thr284=)
c.837C>T (p.Thr279=)
n.841C>T
c.216C>T (p.Thr72=)
c.705C>T (p.Thr235=)
c.168C>T (p.Thr56=)
c.51C>T (p.Thr17=)
n.296C>T
c.157C>T
11g.71438909G>CCA475569355DHCR7c.801C>G (p.Thr267=)
c.627C>G (p.Thr209=)
c.852C>G (p.Thr284=)
c.837C>G (p.Thr279=)
n.841C>G
c.216C>G (p.Thr72=)
c.705C>G (p.Thr235=)
c.168C>G (p.Thr56=)
c.51C>G (p.Thr17=)
n.296C>G
c.157C>G
11g.71438909G>TCA475569357DHCR7c.801C>A (p.Thr267=)
c.627C>A (p.Thr209=)
c.852C>A (p.Thr284=)
c.837C>A (p.Thr279=)
n.841C>A
c.216C>A (p.Thr72=)
c.705C>A (p.Thr235=)
c.168C>A (p.Thr56=)
c.51C>A (p.Thr17=)
n.296C>A
c.157C>A
11g.71438910G>ACA381703247DHCR7c.800C>T (p.Thr267Ile)
c.626C>T (p.Thr209Ile)
c.851C>T (p.Thr284Ile)
c.836C>T (p.Thr279Ile)
n.840C>T
c.215C>T (p.Thr72Ile)
c.704C>T (p.Thr235Ile)
c.167C>T (p.Thr56Ile)
c.50C>T (p.Thr17Ile)
n.295C>T
c.156C>T
 dbSNP
11g.71438910G>CCA381703248DHCR7c.800C>G (p.Thr267Ser)
c.626C>G (p.Thr209Ser)
c.851C>G (p.Thr284Ser)
c.836C>G (p.Thr279Ser)
n.840C>G
c.215C>G (p.Thr72Ser)
c.704C>G (p.Thr235Ser)
c.167C>G (p.Thr56Ser)
c.50C>G (p.Thr17Ser)
n.295C>G
c.156C>G
11g.71438910G=CA1981488552DHCR7c.800C= (p.Thr267=)
c.626C= (p.Thr209=)
c.851C= (p.Thr284=)
c.836C= (p.Thr279=)
n.840C=
c.215C= (p.Thr72=)
c.704C= (p.Thr235=)
c.167C= (p.Thr56=)
c.50C= (p.Thr17=)
n.295C=
c.156C=
11g.71438910G>TCA381703249DHCR7c.800C>A (p.Thr267Asn)
c.626C>A (p.Thr209Asn)
c.851C>A (p.Thr284Asn)
c.836C>A (p.Thr279Asn)
n.840C>A
c.215C>A (p.Thr72Asn)
c.704C>A (p.Thr235Asn)
c.167C>A (p.Thr56Asn)
c.50C>A (p.Thr17Asn)
n.295C>A
c.156C>A
11g.71438911T>ACA381703250DHCR7c.799A>T (p.Thr267Ser)
c.625A>T (p.Thr209Ser)
c.850A>T (p.Thr284Ser)
c.835A>T (p.Thr279Ser)
n.839A>T
c.214A>T (p.Thr72Ser)
c.703A>T (p.Thr235Ser)
c.166A>T (p.Thr56Ser)
c.49A>T (p.Thr17Ser)
n.294A>T
c.155A>T
11g.71438911T>CCA381703252DHCR7c.799A>G (p.Thr267Ala)
c.625A>G (p.Thr209Ala)
c.850A>G (p.Thr284Ala)
c.835A>G (p.Thr279Ala)
n.839A>G
c.214A>G (p.Thr72Ala)
c.703A>G (p.Thr235Ala)
c.166A>G (p.Thr56Ala)
c.49A>G (p.Thr17Ala)
n.294A>G
c.155A>G
11g.71438911T>GCA381703251DHCR7c.799A>C (p.Thr267Pro)
c.625A>C (p.Thr209Pro)
c.850A>C (p.Thr284Pro)
c.835A>C (p.Thr279Pro)
n.839A>C
c.214A>C (p.Thr72Pro)
c.703A>C (p.Thr235Pro)
c.166A>C (p.Thr56Pro)
c.49A>C (p.Thr17Pro)
n.294A>C
c.155A>C
11g.71438912C>ACA475569371DHCR7c.798G>T (p.Val266=)
c.624G>T (p.Val208=)
c.849G>T (p.Val283=)
c.834G>T (p.Val278=)
n.838G>T
c.213G>T (p.Val71=)
c.702G>T (p.Val234=)
c.165G>T (p.Val55=)
c.48G>T (p.Val16=)
n.293G>T
c.154G>T
11g.71438912C>GCA475569374DHCR7c.798G>C (p.Val266=)
c.624G>C (p.Val208=)
c.849G>C (p.Val283=)
c.834G>C (p.Val278=)
n.838G>C
c.213G>C (p.Val71=)
c.702G>C (p.Val234=)
c.165G>C (p.Val55=)
c.48G>C (p.Val16=)
n.293G>C
c.154G>C
11g.71438912C>TCA475569378DHCR7c.798G>A (p.Val266=)
c.624G>A (p.Val208=)
c.849G>A (p.Val283=)
c.834G>A (p.Val278=)
n.838G>A
c.213G>A (p.Val71=)
c.702G>A (p.Val234=)
c.165G>A (p.Val55=)
c.48G>A (p.Val16=)
n.293G>A
c.154G>A
11g.71438913A>CCA381703253DHCR7c.797T>G (p.Val266Gly)
c.623T>G (p.Val208Gly)
c.848T>G (p.Val283Gly)
c.833T>G (p.Val278Gly)
n.837T>G
c.212T>G (p.Val71Gly)
c.701T>G (p.Val234Gly)
c.164T>G (p.Val55Gly)
c.47T>G (p.Val16Gly)
n.292T>G
c.153T>G
11g.71438913A>GCA381703254DHCR7c.797T>C (p.Val266Ala)
c.623T>C (p.Val208Ala)
c.848T>C (p.Val283Ala)
c.833T>C (p.Val278Ala)
n.837T>C
c.212T>C (p.Val71Ala)
c.701T>C (p.Val234Ala)
c.164T>C (p.Val55Ala)
c.47T>C (p.Val16Ala)
n.292T>C
c.153T>C
11g.71438913A>TCA381703255DHCR7c.797T>A (p.Val266Glu)
c.623T>A (p.Val208Glu)
c.848T>A (p.Val283Glu)
c.833T>A (p.Val278Glu)
n.837T>A
c.212T>A (p.Val71Glu)
c.701T>A (p.Val234Glu)
c.164T>A (p.Val55Glu)
c.47T>A (p.Val16Glu)
n.292T>A
c.153T>A
11g.71438914C>ACA381703256DHCR7c.796G>T (p.Val266Leu)
c.622G>T (p.Val208Leu)
c.847G>T (p.Val283Leu)
c.832G>T (p.Val278Leu)
n.836G>T
c.211G>T (p.Val71Leu)
c.700G>T (p.Val234Leu)
c.163G>T (p.Val55Leu)
c.46G>T (p.Val16Leu)
n.291G>T
c.152G>T
11g.71438914C>GCA381703257DHCR7c.796G>C (p.Val266Leu)
c.622G>C (p.Val208Leu)
c.847G>C (p.Val283Leu)
c.832G>C (p.Val278Leu)
n.836G>C
c.211G>C (p.Val71Leu)
c.700G>C (p.Val234Leu)
c.163G>C (p.Val55Leu)
c.46G>C (p.Val16Leu)
n.291G>C
c.152G>C
11g.71438914C>TCA381703258DHCR7c.796G>A (p.Val266Met)
c.622G>A (p.Val208Met)
c.847G>A (p.Val283Met)
c.832G>A (p.Val278Met)
n.836G>A
c.211G>A (p.Val71Met)
c.700G>A (p.Val234Met)
c.163G>A (p.Val55Met)
c.46G>A (p.Val16Met)
n.291G>A
c.152G>A
11g.71438915A=CA1981488553DHCR7c.795T= (p.His265=)
c.621T= (p.His207=)
c.846T= (p.His282=)
c.831T= (p.His277=)
n.835T=
c.210T= (p.His70=)
c.699T= (p.His233=)
c.162T= (p.His54=)
c.45T= (p.His15=)
n.290T=
c.151T=
11g.71438915A>CCA381703259DHCR7c.795T>G (p.His265Gln)
c.621T>G (p.His207Gln)
c.846T>G (p.His282Gln)
c.831T>G (p.His277Gln)
n.835T>G
c.210T>G (p.His70Gln)
c.699T>G (p.His233Gln)
c.162T>G (p.His54Gln)
c.45T>G (p.His15Gln)
n.290T>G
c.151T>G
11g.71438915A>GCA475569396DHCR7c.795T>C (p.His265=)
c.621T>C (p.His207=)
c.846T>C (p.His282=)
c.831T>C (p.His277=)
n.835T>C
c.210T>C (p.His70=)
c.699T>C (p.His233=)
c.162T>C (p.His54=)
c.45T>C (p.His15=)
n.290T>C
c.151T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71438915A>TCA381703260DHCR7c.795T>A (p.His265Gln)
c.621T>A (p.His207Gln)
c.846T>A (p.His282Gln)
c.831T>A (p.His277Gln)
n.835T>A
c.210T>A (p.His70Gln)
c.699T>A (p.His233Gln)
c.162T>A (p.His54Gln)
c.45T>A (p.His15Gln)
n.290T>A
c.151T>A
11g.71438916T>ACA381703261DHCR7c.794A>T (p.His265Leu)
c.620A>T (p.His207Leu)
c.845A>T (p.His282Leu)
c.830A>T (p.His277Leu)
n.834A>T
c.209A>T (p.His70Leu)
c.698A>T (p.His233Leu)
c.161A>T (p.His54Leu)
c.44A>T (p.His15Leu)
n.289A>T
c.150A>T
11g.71438916T>CCA224327772DHCR7c.794A>G (p.His265Arg)
c.620A>G (p.His207Arg)
c.845A>G (p.His282Arg)
c.830A>G (p.His277Arg)
n.834A>G
c.209A>G (p.His70Arg)
c.698A>G (p.His233Arg)
c.161A>G (p.His54Arg)
c.44A>G (p.His15Arg)
n.289A>G
c.150A>G
 dbSNP gnomAD v3 gnomAD v4
11g.71438916T>GCA381703262DHCR7c.794A>C (p.His265Pro)
c.620A>C (p.His207Pro)
c.845A>C (p.His282Pro)
c.830A>C (p.His277Pro)
n.834A>C
c.209A>C (p.His70Pro)
c.698A>C (p.His233Pro)
c.161A>C (p.His54Pro)
c.44A>C (p.His15Pro)
n.289A>C
c.150A>C
11g.71438916T=CA1981488554DHCR7c.794A= (p.His265=)
c.620A= (p.His207=)
c.845A= (p.His282=)
c.830A= (p.His277=)
n.834A=
c.209A= (p.His70=)
c.698A= (p.His233=)
c.161A= (p.His54=)
c.44A= (p.His15=)
n.289A=
c.150A=
11g.71438917G>ACA381703263DHCR7c.793C>T (p.His265Tyr)
c.619C>T (p.His207Tyr)
c.844C>T (p.His282Tyr)
c.829C>T (p.His277Tyr)
n.833C>T
c.208C>T (p.His70Tyr)
c.697C>T (p.His233Tyr)
c.160C>T (p.His54Tyr)
c.43C>T (p.His15Tyr)
n.288C>T
c.149C>T
11g.71438917G>CCA381703264DHCR7c.793C>G (p.His265Asp)
c.619C>G (p.His207Asp)
c.844C>G (p.His282Asp)
c.829C>G (p.His277Asp)
n.833C>G
c.208C>G (p.His70Asp)
c.697C>G (p.His233Asp)
c.160C>G (p.His54Asp)
c.43C>G (p.His15Asp)
n.288C>G
c.149C>G
 gnomAD v4
11g.71438917G>TCA381703265DHCR7c.793C>A (p.His265Asn)
c.619C>A (p.His207Asn)
c.844C>A (p.His282Asn)
c.829C>A (p.His277Asn)
n.833C>A
c.208C>A (p.His70Asn)
c.697C>A (p.His233Asn)
c.160C>A (p.His54Asn)
c.43C>A (p.His15Asn)
n.288C>A
c.149C>A
11g.71438918G>ACA475569419DHCR7c.792C>T (p.Ser264=)
c.618C>T (p.Ser206=)
c.843C>T (p.Ser281=)
c.828C>T (p.Ser276=)
n.832C>T
c.207C>T (p.Ser69=)
c.696C>T (p.Ser232=)
c.159C>T (p.Ser53=)
c.42C>T (p.Ser14=)
n.287C>T
c.148C>T
11g.71438918G>CCA381703266DHCR7c.792C>G (p.Ser264Arg)
c.618C>G (p.Ser206Arg)
c.843C>G (p.Ser281Arg)
c.828C>G (p.Ser276Arg)
n.832C>G
c.207C>G (p.Ser69Arg)
c.696C>G (p.Ser232Arg)
c.159C>G (p.Ser53Arg)
c.42C>G (p.Ser14Arg)
n.287C>G
c.148C>G
11g.71438918G>TCA381703267DHCR7c.792C>A (p.Ser264Arg)
c.618C>A (p.Ser206Arg)
c.843C>A (p.Ser281Arg)
c.828C>A (p.Ser276Arg)
n.832C>A
c.207C>A (p.Ser69Arg)
c.696C>A (p.Ser232Arg)
c.159C>A (p.Ser53Arg)
c.42C>A (p.Ser14Arg)
n.287C>A
c.148C>A
11g.71438919C>ACA381703268DHCR7c.791G>T (p.Ser264Ile)
c.617G>T (p.Ser206Ile)
c.842G>T (p.Ser281Ile)
c.827G>T (p.Ser276Ile)
n.831G>T
c.206G>T (p.Ser69Ile)
c.695G>T (p.Ser232Ile)
c.158G>T (p.Ser53Ile)
c.41G>T (p.Ser14Ile)
n.286G>T
c.147G>T
11g.71438919C>GCA381703269DHCR7c.791G>C (p.Ser264Thr)
c.617G>C (p.Ser206Thr)
c.842G>C (p.Ser281Thr)
c.827G>C (p.Ser276Thr)
n.831G>C
c.206G>C (p.Ser69Thr)
c.695G>C (p.Ser232Thr)
c.158G>C (p.Ser53Thr)
c.41G>C (p.Ser14Thr)
n.286G>C
c.147G>C
11g.71438919C>TCA381703270DHCR7c.791G>A (p.Ser264Asn)
c.617G>A (p.Ser206Asn)
c.842G>A (p.Ser281Asn)
c.827G>A (p.Ser276Asn)
n.831G>A
c.206G>A (p.Ser69Asn)
c.695G>A (p.Ser232Asn)
c.158G>A (p.Ser53Asn)
c.41G>A (p.Ser14Asn)
n.286G>A
c.147G>A
 ClinVar gnomAD v4
11g.71438920T>ACA381703271DHCR7c.790A>T (p.Ser264Cys)
c.616A>T (p.Ser206Cys)
c.841A>T (p.Ser281Cys)
c.826A>T (p.Ser276Cys)
n.830A>T
c.205A>T (p.Ser69Cys)
c.694A>T (p.Ser232Cys)
c.157A>T (p.Ser53Cys)
c.40A>T (p.Ser14Cys)
n.285A>T
c.146A>T
11g.71438920T>CCA6162457DHCR7c.790A>G (p.Ser264Gly)
c.616A>G (p.Ser206Gly)
c.841A>G (p.Ser281Gly)
c.826A>G (p.Ser276Gly)
n.830A>G
c.205A>G (p.Ser69Gly)
c.694A>G (p.Ser232Gly)
c.157A>G (p.Ser53Gly)
c.40A>G (p.Ser14Gly)
n.285A>G
c.146A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438920T>GCA381703272DHCR7c.790A>C (p.Ser264Arg)
c.616A>C (p.Ser206Arg)
c.841A>C (p.Ser281Arg)
c.826A>C (p.Ser276Arg)
n.830A>C
c.205A>C (p.Ser69Arg)
c.694A>C (p.Ser232Arg)
c.157A>C (p.Ser53Arg)
c.40A>C (p.Ser14Arg)
n.285A>C
c.146A>C
11g.71438920T=CA1981488555DHCR7c.790A= (p.Ser264=)
c.616A= (p.Ser206=)
c.841A= (p.Ser281=)
c.826A= (p.Ser276=)
n.830A=
c.205A= (p.Ser69=)
c.694A= (p.Ser232=)
c.157A= (p.Ser53=)
c.40A= (p.Ser14=)
n.285A=
c.146A=
11g.71438921G>ACA6162458DHCR7c.789C>T (p.His263=)
c.615C>T (p.His205=)
c.840C>T (p.His280=)
c.825C>T (p.His275=)
n.829C>T
c.204C>T (p.His68=)
c.693C>T (p.His231=)
c.156C>T (p.His52=)
c.39C>T (p.His13=)
n.284C>T
c.145C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438921G>CCA381703273DHCR7c.789C>G (p.His263Gln)
c.615C>G (p.His205Gln)
c.840C>G (p.His280Gln)
c.825C>G (p.His275Gln)
n.829C>G
c.204C>G (p.His68Gln)
c.693C>G (p.His231Gln)
c.156C>G (p.His52Gln)
c.39C>G (p.His13Gln)
n.284C>G
c.145C>G
11g.71438921G=CA1981488556DHCR7c.789C= (p.His263=)
c.615C= (p.His205=)
c.840C= (p.His280=)
c.825C= (p.His275=)
n.829C=
c.204C= (p.His68=)
c.693C= (p.His231=)
c.156C= (p.His52=)
c.39C= (p.His13=)
n.284C=
c.145C=
11g.71438921G>TCA381703274DHCR7c.789C>A (p.His263Gln)
c.615C>A (p.His205Gln)
c.840C>A (p.His280Gln)
c.825C>A (p.His275Gln)
n.829C>A
c.204C>A (p.His68Gln)
c.693C>A (p.His231Gln)
c.156C>A (p.His52Gln)
c.39C>A (p.His13Gln)
n.284C>A
c.145C>A
11g.71438922T>ACA381703275DHCR7c.788A>T (p.His263Leu)
c.614A>T (p.His205Leu)
c.839A>T (p.His280Leu)
c.824A>T (p.His275Leu)
n.828A>T
c.203A>T (p.His68Leu)
c.692A>T (p.His231Leu)
c.155A>T (p.His52Leu)
c.38A>T (p.His13Leu)
n.283A>T
c.144A>T
11g.71438922T>CCA381703276DHCR7c.788A>G (p.His263Arg)
c.614A>G (p.His205Arg)
c.839A>G (p.His280Arg)
c.824A>G (p.His275Arg)
n.828A>G
c.203A>G (p.His68Arg)
c.692A>G (p.His231Arg)
c.155A>G (p.His52Arg)
c.38A>G (p.His13Arg)
n.283A>G
c.144A>G
11g.71438922T>GCA381703277DHCR7c.788A>C (p.His263Pro)
c.614A>C (p.His205Pro)
c.839A>C (p.His280Pro)
c.824A>C (p.His275Pro)
n.828A>C
c.203A>C (p.His68Pro)
c.692A>C (p.His231Pro)
c.155A>C (p.His52Pro)
c.38A>C (p.His13Pro)
n.283A>C
c.144A>C
11g.71438923G>ACA381703280DHCR7c.787C>T (p.His263Tyr)
c.613C>T (p.His205Tyr)
c.838C>T (p.His280Tyr)
c.823C>T (p.His275Tyr)
n.827C>T
c.202C>T (p.His68Tyr)
c.691C>T (p.His231Tyr)
c.154C>T (p.His52Tyr)
c.37C>T (p.His13Tyr)
n.282C>T
c.143C>T
11g.71438923G>CCA381703279DHCR7c.787C>G (p.His263Asp)
c.613C>G (p.His205Asp)
c.838C>G (p.His280Asp)
c.823C>G (p.His275Asp)
n.827C>G
c.202C>G (p.His68Asp)
c.691C>G (p.His231Asp)
c.154C>G (p.His52Asp)
c.37C>G (p.His13Asp)
n.282C>G
c.143C>G
11g.71438923G>TCA381703278DHCR7c.787C>A (p.His263Asn)
c.613C>A (p.His205Asn)
c.838C>A (p.His280Asn)
c.823C>A (p.His275Asn)
n.827C>A
c.202C>A (p.His68Asn)
c.691C>A (p.His231Asn)
c.154C>A (p.His52Asn)
c.37C>A (p.His13Asn)
n.282C>A
c.143C>A
11g.71438924G>ACA475569444DHCR7c.786C>T (p.Leu262=)
c.612C>T (p.Leu204=)
c.837C>T (p.Leu279=)
c.822C>T (p.Leu274=)
n.826C>T
c.201C>T (p.Leu67=)
c.690C>T (p.Leu230=)
c.153C>T (p.Leu51=)
c.36C>T (p.Leu12=)
n.281C>T
c.142C>T
 COSMIC COSMIC
11g.71438924G>CCA475569447DHCR7c.786C>G (p.Leu262=)
c.612C>G (p.Leu204=)
c.837C>G (p.Leu279=)
c.822C>G (p.Leu274=)
n.826C>G
c.201C>G (p.Leu67=)
c.690C>G (p.Leu230=)
c.153C>G (p.Leu51=)
c.36C>G (p.Leu12=)
n.281C>G
c.142C>G
 dbSNP
11g.71438924G=CA1981488557DHCR7c.786C= (p.Leu262=)
c.612C= (p.Leu204=)
c.837C= (p.Leu279=)
c.822C= (p.Leu274=)
n.826C=
c.201C= (p.Leu67=)
c.690C= (p.Leu230=)
c.153C= (p.Leu51=)
c.36C= (p.Leu12=)
n.281C=
c.142C=
11g.71438924G>TCA475569449DHCR7c.786C>A (p.Leu262=)
c.612C>A (p.Leu204=)
c.837C>A (p.Leu279=)
c.822C>A (p.Leu274=)
n.826C>A
c.201C>A (p.Leu67=)
c.690C>A (p.Leu230=)
c.153C>A (p.Leu51=)
c.36C>A (p.Leu12=)
n.281C>A
c.142C>A
 gnomAD v4
11g.71438925A>CCA381703282DHCR7c.785T>G (p.Leu262Arg)
c.611T>G (p.Leu204Arg)
c.836T>G (p.Leu279Arg)
c.821T>G (p.Leu274Arg)
n.825T>G
c.200T>G (p.Leu67Arg)
c.689T>G (p.Leu230Arg)
c.152T>G (p.Leu51Arg)
c.35T>G (p.Leu12Arg)
n.280T>G
c.141T>G
11g.71438925A>GCA381703281DHCR7c.785T>C (p.Leu262Pro)
c.611T>C (p.Leu204Pro)
c.836T>C (p.Leu279Pro)
c.821T>C (p.Leu274Pro)
n.825T>C
c.200T>C (p.Leu67Pro)
c.689T>C (p.Leu230Pro)
c.152T>C (p.Leu51Pro)
c.35T>C (p.Leu12Pro)
n.280T>C
c.141T>C
11g.71438925A>TCA381703283DHCR7c.785T>A (p.Leu262His)
c.611T>A (p.Leu204His)
c.836T>A (p.Leu279His)
c.821T>A (p.Leu274His)
n.825T>A
c.200T>A (p.Leu67His)
c.689T>A (p.Leu230His)
c.152T>A (p.Leu51His)
c.35T>A (p.Leu12His)
n.280T>A
c.141T>A
11g.71438926G>ACA381703284DHCR7c.784C>T (p.Leu262Phe)
c.610C>T (p.Leu204Phe)
c.835C>T (p.Leu279Phe)
c.820C>T (p.Leu274Phe)
n.824C>T
c.199C>T (p.Leu67Phe)
c.688C>T (p.Leu230Phe)
c.151C>T (p.Leu51Phe)
c.34C>T (p.Leu12Phe)
n.279C>T
c.140C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71438926G>CCA6162459DHCR7c.784C>G (p.Leu262Val)
c.610C>G (p.Leu204Val)
c.835C>G (p.Leu279Val)
c.820C>G (p.Leu274Val)
n.824C>G
c.199C>G (p.Leu67Val)
c.688C>G (p.Leu230Val)
c.151C>G (p.Leu51Val)
c.34C>G (p.Leu12Val)
n.279C>G
c.140C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438926G=CA1981488558DHCR7c.784C= (p.Leu262=)
c.610C= (p.Leu204=)
c.835C= (p.Leu279=)
c.820C= (p.Leu274=)
n.824C=
c.199C= (p.Leu67=)
c.688C= (p.Leu230=)
c.151C= (p.Leu51=)
c.34C= (p.Leu12=)
n.279C=
c.140C=
11g.71438926G>TCA381703285DHCR7c.784C>A (p.Leu262Ile)
c.610C>A (p.Leu204Ile)
c.835C>A (p.Leu279Ile)
c.820C>A (p.Leu274Ile)
n.824C>A
c.199C>A (p.Leu67Ile)
c.688C>A (p.Leu230Ile)
c.151C>A (p.Leu51Ile)
c.34C>A (p.Leu12Ile)
n.279C>A
c.140C>A
11g.71438927C>ACA381703286DHCR7c.783G>T (p.Glu261Asp)
c.609G>T (p.Glu203Asp)
c.834G>T (p.Glu278Asp)
c.819G>T (p.Glu273Asp)
n.823G>T
c.198G>T (p.Glu66Asp)
c.687G>T (p.Glu229Asp)
c.150G>T (p.Glu50Asp)
c.33G>T (p.Glu11Asp)
n.278G>T
c.139G>T
11g.71438927C=CA1981488559DHCR7c.783G= (p.Glu261=)
c.609G= (p.Glu203=)
c.834G= (p.Glu278=)
c.819G= (p.Glu273=)
n.823G=
c.198G= (p.Glu66=)
c.687G= (p.Glu229=)
c.150G= (p.Glu50=)
c.33G= (p.Glu11=)
n.278G=
c.139G=
11g.71438927C>GCA381703287DHCR7c.783G>C (p.Glu261Asp)
c.609G>C (p.Glu203Asp)
c.834G>C (p.Glu278Asp)
c.819G>C (p.Glu273Asp)
n.823G>C
c.198G>C (p.Glu66Asp)
c.687G>C (p.Glu229Asp)
c.150G>C (p.Glu50Asp)
c.33G>C (p.Glu11Asp)
n.278G>C
c.139G>C
11g.71438927C>TCA6162460DHCR7c.783G>A (p.Glu261=)
c.609G>A (p.Glu203=)
c.834G>A (p.Glu278=)
c.819G>A (p.Glu273=)
n.823G>A
c.198G>A (p.Glu66=)
c.687G>A (p.Glu229=)
c.150G>A (p.Glu50=)
c.33G>A (p.Glu11=)
n.278G>A
c.139G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438928T>ACA381703288DHCR7c.782A>T (p.Glu261Val)
c.608A>T (p.Glu203Val)
c.833A>T (p.Glu278Val)
c.818A>T (p.Glu273Val)
n.822A>T
c.197A>T (p.Glu66Val)
c.686A>T (p.Glu229Val)
c.149A>T (p.Glu50Val)
c.32A>T (p.Glu11Val)
n.277A>T
c.138A>T
11g.71438928T>CCA381703289DHCR7c.782A>G (p.Glu261Gly)
c.608A>G (p.Glu203Gly)
c.833A>G (p.Glu278Gly)
c.818A>G (p.Glu273Gly)
n.822A>G
c.197A>G (p.Glu66Gly)
c.686A>G (p.Glu229Gly)
c.149A>G (p.Glu50Gly)
c.32A>G (p.Glu11Gly)
n.277A>G
c.138A>G
 ClinVar dbSNP
11g.71438928T>GCA381703290DHCR7c.782A>C (p.Glu261Ala)
c.608A>C (p.Glu203Ala)
c.833A>C (p.Glu278Ala)
c.818A>C (p.Glu273Ala)
n.822A>C
c.197A>C (p.Glu66Ala)
c.686A>C (p.Glu229Ala)
c.149A>C (p.Glu50Ala)
c.32A>C (p.Glu11Ala)
n.277A>C
c.138A>C
 dbSNP gnomAD v2
11g.71438928T=CA1981488560DHCR7c.782A= (p.Glu261=)
c.608A= (p.Glu203=)
c.833A= (p.Glu278=)
c.818A= (p.Glu273=)
n.822A=
c.197A= (p.Glu66=)
c.686A= (p.Glu229=)
c.149A= (p.Glu50=)
c.32A= (p.Glu11=)
n.277A=
c.138A=
11g.71438929C>ACA381703291DHCR7c.781G>T (p.Glu261Ter)
c.607G>T (p.Glu203Ter)
c.832G>T (p.Glu278Ter)
c.817G>T (p.Glu273Ter)
n.821G>T
c.196G>T (p.Glu66Ter)
c.685G>T (p.Glu229Ter)
c.148G>T (p.Glu50Ter)
c.31G>T (p.Glu11Ter)
n.276G>T
c.137G>T
11g.71438929C=CA1981488561DHCR7c.781G= (p.Glu261=)
c.607G= (p.Glu203=)
c.832G= (p.Glu278=)
c.817G= (p.Glu273=)
n.821G=
c.196G= (p.Glu66=)
c.685G= (p.Glu229=)
c.148G= (p.Glu50=)
c.31G= (p.Glu11=)
n.276G=
c.137G=
11g.71438929C>GCA381703292DHCR7c.781G>C (p.Glu261Gln)
c.607G>C (p.Glu203Gln)
c.832G>C (p.Glu278Gln)
c.817G>C (p.Glu273Gln)
n.821G>C
c.196G>C (p.Glu66Gln)
c.685G>C (p.Glu229Gln)
c.148G>C (p.Glu50Gln)
c.31G>C (p.Glu11Gln)
n.276G>C
c.137G>C
11g.71438929C>TCA6162461DHCR7c.781G>A (p.Glu261Lys)
c.607G>A (p.Glu203Lys)
c.832G>A (p.Glu278Lys)
c.817G>A (p.Glu273Lys)
n.821G>A
c.196G>A (p.Glu66Lys)
c.685G>A (p.Glu229Lys)
c.148G>A (p.Glu50Lys)
c.31G>A (p.Glu11Lys)
n.276G>A
c.137G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438930C>ACA475569483DHCR7c.780G>T (p.Arg260=)
c.606G>T (p.Arg202=)
c.831G>T (p.Arg277=)
c.816G>T (p.Arg272=)
n.820G>T
c.195G>T (p.Arg65=)
c.684G>T (p.Arg228=)
c.147G>T (p.Arg49=)
c.30G>T (p.Arg10=)
n.275G>T
c.136G>T
11g.71438930C>GCA475569484DHCR7c.780G>C (p.Arg260=)
c.606G>C (p.Arg202=)
c.831G>C (p.Arg277=)
c.816G>C (p.Arg272=)
n.820G>C
c.195G>C (p.Arg65=)
c.684G>C (p.Arg228=)
c.147G>C (p.Arg49=)
c.30G>C (p.Arg10=)
n.275G>C
c.136G>C
11g.71438930C>TCA475569488DHCR7c.780G>A (p.Arg260=)
c.606G>A (p.Arg202=)
c.831G>A (p.Arg277=)
c.816G>A (p.Arg272=)
n.820G>A
c.195G>A (p.Arg65=)
c.684G>A (p.Arg228=)
c.147G>A (p.Arg49=)
c.30G>A (p.Arg10=)
n.275G>A
c.136G>A
11g.71438931C>ACA381703294DHCR7c.779G>T (p.Arg260Leu)
c.605G>T (p.Arg202Leu)
c.830G>T (p.Arg277Leu)
c.815G>T (p.Arg272Leu)
n.819G>T
c.194G>T (p.Arg65Leu)
c.683G>T (p.Arg228Leu)
c.146G>T (p.Arg49Leu)
c.29G>T (p.Arg10Leu)
n.274G>T
c.135G>T
11g.71438931C=CA1981488562DHCR7c.779G= (p.Arg260=)
c.605G= (p.Arg202=)
c.830G= (p.Arg277=)
c.815G= (p.Arg272=)
n.819G=
c.194G= (p.Arg65=)
c.683G= (p.Arg228=)
c.146G= (p.Arg49=)
c.29G= (p.Arg10=)
n.274G=
c.135G=
11g.71438931C>GCA381703293DHCR7c.779G>C (p.Arg260Pro)
c.605G>C (p.Arg202Pro)
c.830G>C (p.Arg277Pro)
c.815G>C (p.Arg272Pro)
n.819G>C
c.194G>C (p.Arg65Pro)
c.683G>C (p.Arg228Pro)
c.146G>C (p.Arg49Pro)
c.29G>C (p.Arg10Pro)
n.274G>C
c.135G>C
11g.71438931C>TCA6162462DHCR7c.779G>A (p.Arg260Gln)
c.605G>A (p.Arg202Gln)
c.830G>A (p.Arg277Gln)
c.815G>A (p.Arg272Gln)
n.819G>A
c.194G>A (p.Arg65Gln)
c.683G>A (p.Arg228Gln)
c.146G>A (p.Arg49Gln)
c.29G>A (p.Arg10Gln)
n.274G>A
c.135G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438932G>ACA381703295DHCR7c.778C>T (p.Arg260Trp)
c.604C>T (p.Arg202Trp)
c.829C>T (p.Arg277Trp)
c.814C>T (p.Arg272Trp)
n.818C>T
c.193C>T (p.Arg65Trp)
c.682C>T (p.Arg228Trp)
c.145C>T (p.Arg49Trp)
c.28C>T (p.Arg10Trp)
n.273C>T
c.134C>T
 dbSNP gnomAD v2 gnomAD v4
11g.71438932G>CCA6162463DHCR7c.778C>G (p.Arg260Gly)
c.604C>G (p.Arg202Gly)
c.829C>G (p.Arg277Gly)
c.814C>G (p.Arg272Gly)
n.818C>G
c.193C>G (p.Arg65Gly)
c.682C>G (p.Arg228Gly)
c.145C>G (p.Arg49Gly)
c.28C>G (p.Arg10Gly)
n.273C>G
c.134C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438932G=CA1981488563DHCR7c.778C= (p.Arg260=)
c.604C= (p.Arg202=)
c.829C= (p.Arg277=)
c.814C= (p.Arg272=)
n.818C=
c.193C= (p.Arg65=)
c.682C= (p.Arg228=)
c.145C= (p.Arg49=)
c.28C= (p.Arg10=)
n.273C=
c.134C=
11g.71438932G>TCA224327813DHCR7c.778C>A (p.Arg260=)
c.604C>A (p.Arg202=)
c.829C>A (p.Arg277=)
c.814C>A (p.Arg272=)
n.818C>A
c.193C>A (p.Arg65=)
c.682C>A (p.Arg228=)
c.145C>A (p.Arg49=)
c.28C>A (p.Arg10=)
n.273C>A
c.134C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71438933C>ACA381703296DHCR7c.777G>T (p.Gln259His)
c.603G>T (p.Gln201His)
c.828G>T (p.Gln276His)
c.813G>T (p.Gln271His)
n.817G>T
c.192G>T (p.Gln64His)
c.681G>T (p.Gln227His)
c.144G>T (p.Gln48His)
c.27G>T (p.Gln9His)
n.272G>T
c.133G>T
 gnomAD v4
11g.71438933C>GCA381703297DHCR7c.777G>C (p.Gln259His)
c.603G>C (p.Gln201His)
c.828G>C (p.Gln276His)
c.813G>C (p.Gln271His)
n.817G>C
c.192G>C (p.Gln64His)
c.681G>C (p.Gln227His)
c.144G>C (p.Gln48His)
c.27G>C (p.Gln9His)
n.272G>C
c.133G>C
11g.71438933C>TCA475569504DHCR7c.777G>A (p.Gln259=)
c.603G>A (p.Gln201=)
c.828G>A (p.Gln276=)
c.813G>A (p.Gln271=)
n.817G>A
c.192G>A (p.Gln64=)
c.681G>A (p.Gln227=)
c.144G>A (p.Gln48=)
c.27G>A (p.Gln9=)
n.272G>A
c.133G>A
11g.71438934T>ACA381703298DHCR7c.776A>T (p.Gln259Leu)
c.602A>T (p.Gln201Leu)
c.827A>T (p.Gln276Leu)
c.812A>T (p.Gln271Leu)
n.816A>T
c.191A>T (p.Gln64Leu)
c.680A>T (p.Gln227Leu)
c.143A>T (p.Gln48Leu)
c.26A>T (p.Gln9Leu)
n.271A>T
c.132A>T
11g.71438934T>CCA381703299DHCR7c.776A>G (p.Gln259Arg)
c.602A>G (p.Gln201Arg)
c.827A>G (p.Gln276Arg)
c.812A>G (p.Gln271Arg)
n.816A>G
c.191A>G (p.Gln64Arg)
c.680A>G (p.Gln227Arg)
c.143A>G (p.Gln48Arg)
c.26A>G (p.Gln9Arg)
n.271A>G
c.132A>G
11g.71438934T>GCA381703300DHCR7c.776A>C (p.Gln259Pro)
c.602A>C (p.Gln201Pro)
c.827A>C (p.Gln276Pro)
c.812A>C (p.Gln271Pro)
n.816A>C
c.191A>C (p.Gln64Pro)
c.680A>C (p.Gln227Pro)
c.143A>C (p.Gln48Pro)
c.26A>C (p.Gln9Pro)
n.271A>C
c.132A>C
11g.71438935G>ACA381703301DHCR7c.775C>T (p.Gln259Ter)
c.601C>T (p.Gln201Ter)
c.826C>T (p.Gln276Ter)
c.811C>T (p.Gln271Ter)
n.815C>T
c.190C>T (p.Gln64Ter)
c.679C>T (p.Gln227Ter)
c.142C>T (p.Gln48Ter)
c.25C>T (p.Gln9Ter)
n.270C>T
c.131C>T
 gnomAD v4
11g.71438935G>CCA381703302DHCR7c.775C>G (p.Gln259Glu)
c.601C>G (p.Gln201Glu)
c.826C>G (p.Gln276Glu)
c.811C>G (p.Gln271Glu)
n.815C>G
c.190C>G (p.Gln64Glu)
c.679C>G (p.Gln227Glu)
c.142C>G (p.Gln48Glu)
c.25C>G (p.Gln9Glu)
n.270C>G
c.131C>G
11g.71438935G>TCA381703303DHCR7c.775C>A (p.Gln259Lys)
c.601C>A (p.Gln201Lys)
c.826C>A (p.Gln276Lys)
c.811C>A (p.Gln271Lys)
n.815C>A
c.190C>A (p.Gln64Lys)
c.679C>A (p.Gln227Lys)
c.142C>A (p.Gln48Lys)
c.25C>A (p.Gln9Lys)
n.270C>A
c.131C>A
11g.71438936C>ACA381703304DHCR7c.774G>T (p.Lys258Asn)
c.600G>T (p.Lys200Asn)
c.825G>T (p.Lys275Asn)
c.810G>T (p.Lys270Asn)
n.814G>T
c.189G>T (p.Lys63Asn)
c.678G>T (p.Lys226Asn)
c.141G>T (p.Lys47Asn)
c.24G>T (p.Lys8Asn)
n.269G>T
c.130G>T
11g.71438936C>GCA381703305DHCR7c.774G>C (p.Lys258Asn)
c.600G>C (p.Lys200Asn)
c.825G>C (p.Lys275Asn)
c.810G>C (p.Lys270Asn)
n.814G>C
c.189G>C (p.Lys63Asn)
c.678G>C (p.Lys226Asn)
c.141G>C (p.Lys47Asn)
c.24G>C (p.Lys8Asn)
n.269G>C
c.130G>C
11g.71438936C>TCA475569521DHCR7c.774G>A (p.Lys258=)
c.600G>A (p.Lys200=)
c.825G>A (p.Lys275=)
c.810G>A (p.Lys270=)
n.814G>A
c.189G>A (p.Lys63=)
c.678G>A (p.Lys226=)
c.141G>A (p.Lys47=)
c.24G>A (p.Lys8=)
n.269G>A
c.130G>A
 ClinVar gnomAD v4
11g.71438937T>ACA381703308DHCR7c.773A>T (p.Lys258Met)
c.599A>T (p.Lys200Met)
c.824A>T (p.Lys275Met)
c.809A>T (p.Lys270Met)
n.813A>T
c.188A>T (p.Lys63Met)
c.677A>T (p.Lys226Met)
c.140A>T (p.Lys47Met)
c.23A>T (p.Lys8Met)
n.268A>T
c.129A>T
11g.71438937T>CCA381703307DHCR7c.773A>G (p.Lys258Arg)
c.599A>G (p.Lys200Arg)
c.824A>G (p.Lys275Arg)
c.809A>G (p.Lys270Arg)
n.813A>G
c.188A>G (p.Lys63Arg)
c.677A>G (p.Lys226Arg)
c.140A>G (p.Lys47Arg)
c.23A>G (p.Lys8Arg)
n.268A>G
c.129A>G
11g.71438937T>GCA381703306DHCR7c.773A>C (p.Lys258Thr)
c.599A>C (p.Lys200Thr)
c.824A>C (p.Lys275Thr)
c.809A>C (p.Lys270Thr)
n.813A>C
c.188A>C (p.Lys63Thr)
c.677A>C (p.Lys226Thr)
c.140A>C (p.Lys47Thr)
c.23A>C (p.Lys8Thr)
n.268A>C
c.129A>C
11g.71438938T>ACA381703311DHCR7c.772A>T (p.Lys258Ter)
c.598A>T (p.Lys200Ter)
c.823A>T (p.Lys275Ter)
c.808A>T (p.Lys270Ter)
n.812A>T
c.187A>T (p.Lys63Ter)
c.676A>T (p.Lys226Ter)
c.139A>T (p.Lys47Ter)
c.22A>T (p.Lys8Ter)
n.267A>T
c.128A>T
11g.71438938T>CCA381703309DHCR7c.772A>G (p.Lys258Glu)
c.598A>G (p.Lys200Glu)
c.823A>G (p.Lys275Glu)
c.808A>G (p.Lys270Glu)
n.812A>G
c.187A>G (p.Lys63Glu)
c.676A>G (p.Lys226Glu)
c.139A>G (p.Lys47Glu)
c.22A>G (p.Lys8Glu)
n.267A>G
c.128A>G
11g.71438938T>GCA381703310DHCR7c.772A>C (p.Lys258Gln)
c.598A>C (p.Lys200Gln)
c.823A>C (p.Lys275Gln)
c.808A>C (p.Lys270Gln)
n.812A>C
c.187A>C (p.Lys63Gln)
c.676A>C (p.Lys226Gln)
c.139A>C (p.Lys47Gln)
c.22A>C (p.Lys8Gln)
n.267A>C
c.128A>C
11g.71438939C>ACA475569536DHCR7c.771G>T (p.Ala257=)
c.597G>T (p.Ala199=)
c.822G>T (p.Ala274=)
c.807G>T (p.Ala269=)
n.811G>T
c.186G>T (p.Ala62=)
c.675G>T (p.Ala225=)
c.138G>T (p.Ala46=)
c.21G>T (p.Ala7=)
n.266G>T
c.127G>T
11g.71438939C=CA1981488564DHCR7c.771G= (p.Ala257=)
c.597G= (p.Ala199=)
c.822G= (p.Ala274=)
c.807G= (p.Ala269=)
n.811G=
c.186G= (p.Ala62=)
c.675G= (p.Ala225=)
c.138G= (p.Ala46=)
c.21G= (p.Ala7=)
n.266G=
c.127G=
11g.71438939C>GCA475569539DHCR7c.771G>C (p.Ala257=)
c.597G>C (p.Ala199=)
c.822G>C (p.Ala274=)
c.807G>C (p.Ala269=)
n.811G>C
c.186G>C (p.Ala62=)
c.675G>C (p.Ala225=)
c.138G>C (p.Ala46=)
c.21G>C (p.Ala7=)
n.266G>C
c.127G>C
11g.71438939C>TCA6162464DHCR7c.771G>A (p.Ala257=)
c.597G>A (p.Ala199=)
c.822G>A (p.Ala274=)
c.807G>A (p.Ala269=)
n.811G>A
c.186G>A (p.Ala62=)
c.675G>A (p.Ala225=)
c.138G>A (p.Ala46=)
c.21G>A (p.Ala7=)
n.266G>A
c.127G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438940G>ACA6162465DHCR7c.770C>T (p.Ala257Val)
c.596C>T (p.Ala199Val)
c.821C>T (p.Ala274Val)
c.806C>T (p.Ala269Val)
n.810C>T
c.185C>T (p.Ala62Val)
c.674C>T (p.Ala225Val)
c.137C>T (p.Ala46Val)
c.20C>T (p.Ala7Val)
n.265C>T
c.126C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438940G>CCA381703312DHCR7c.770C>G (p.Ala257Gly)
c.596C>G (p.Ala199Gly)
c.821C>G (p.Ala274Gly)
c.806C>G (p.Ala269Gly)
n.810C>G
c.185C>G (p.Ala62Gly)
c.674C>G (p.Ala225Gly)
c.137C>G (p.Ala46Gly)
c.20C>G (p.Ala7Gly)
n.265C>G
c.126C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71438940G=CA1981488565DHCR7c.770C= (p.Ala257=)
c.596C= (p.Ala199=)
c.821C= (p.Ala274=)
c.806C= (p.Ala269=)
n.810C=
c.185C= (p.Ala62=)
c.674C= (p.Ala225=)
c.137C= (p.Ala46=)
c.20C= (p.Ala7=)
n.265C=
c.126C=
11g.71438940G>TCA381703313DHCR7c.770C>A (p.Ala257Glu)
c.596C>A (p.Ala199Glu)
c.821C>A (p.Ala274Glu)
c.806C>A (p.Ala269Glu)
n.810C>A
c.185C>A (p.Ala62Glu)
c.674C>A (p.Ala225Glu)
c.137C>A (p.Ala46Glu)
c.20C>A (p.Ala7Glu)
n.265C>A
c.126C>A
11g.71438941C>ACA381703314DHCR7c.769G>T (p.Ala257Ser)
c.595G>T (p.Ala199Ser)
c.820G>T (p.Ala274Ser)
c.805G>T (p.Ala269Ser)
n.809G>T
c.184G>T (p.Ala62Ser)
c.673G>T (p.Ala225Ser)
c.136G>T (p.Ala46Ser)
c.19G>T (p.Ala7Ser)
n.264G>T
c.125G>T
11g.71438941C>GCA381703315DHCR7c.769G>C (p.Ala257Pro)
c.595G>C (p.Ala199Pro)
c.820G>C (p.Ala274Pro)
c.805G>C (p.Ala269Pro)
n.809G>C
c.184G>C (p.Ala62Pro)
c.673G>C (p.Ala225Pro)
c.136G>C (p.Ala46Pro)
c.19G>C (p.Ala7Pro)
n.264G>C
c.125G>C
11g.71438941C>TCA381703316DHCR7c.769G>A (p.Ala257Thr)
c.595G>A (p.Ala199Thr)
c.820G>A (p.Ala274Thr)
c.805G>A (p.Ala269Thr)
n.809G>A
c.184G>A (p.Ala62Thr)
c.673G>A (p.Ala225Thr)
c.136G>A (p.Ala46Thr)
c.19G>A (p.Ala7Thr)
n.264G>A
c.125G>A
11g.71438942T>ACA475569554DHCR7c.768A>T (p.Ala256=)
c.594A>T (p.Ala198=)
c.819A>T (p.Ala273=)
c.804A>T (p.Ala268=)
n.808A>T
c.183A>T (p.Ala61=)
c.672A>T (p.Ala224=)
c.135A>T (p.Ala45=)
c.18A>T (p.Ala6=)
n.263A>T
c.124A>T
11g.71438942T>CCA475569557DHCR7c.768A>G (p.Ala256=)
c.594A>G (p.Ala198=)
c.819A>G (p.Ala273=)
c.804A>G (p.Ala268=)
n.808A>G
c.183A>G (p.Ala61=)
c.672A>G (p.Ala224=)
c.135A>G (p.Ala45=)
c.18A>G (p.Ala6=)
n.263A>G
c.124A>G
 ClinVar
11g.71438942T>GCA475569560DHCR7c.768A>C (p.Ala256=)
c.594A>C (p.Ala198=)
c.819A>C (p.Ala273=)
c.804A>C (p.Ala268=)
n.808A>C
c.183A>C (p.Ala61=)
c.672A>C (p.Ala224=)
c.135A>C (p.Ala45=)
c.18A>C (p.Ala6=)
n.263A>C
c.124A>C
11g.71438943G>ACA381703317DHCR7c.767C>T (p.Ala256Val)
c.593C>T (p.Ala198Val)
c.818C>T (p.Ala273Val)
c.803C>T (p.Ala268Val)
n.807C>T
c.182C>T (p.Ala61Val)
c.671C>T (p.Ala224Val)
c.134C>T (p.Ala45Val)
c.17C>T (p.Ala6Val)
n.262C>T
c.123C>T
11g.71438943G>CCA381703318DHCR7c.767C>G (p.Ala256Gly)
c.593C>G (p.Ala198Gly)
c.818C>G (p.Ala273Gly)
c.803C>G (p.Ala268Gly)
n.807C>G
c.182C>G (p.Ala61Gly)
c.671C>G (p.Ala224Gly)
c.134C>G (p.Ala45Gly)
c.17C>G (p.Ala6Gly)
n.262C>G
c.123C>G
11g.71438943G>TCA381703319DHCR7c.767C>A (p.Ala256Glu)
c.593C>A (p.Ala198Glu)
c.818C>A (p.Ala273Glu)
c.803C>A (p.Ala268Glu)
n.807C>A
c.182C>A (p.Ala61Glu)
c.671C>A (p.Ala224Glu)
c.134C>A (p.Ala45Glu)
c.17C>A (p.Ala6Glu)
n.262C>A
c.123C>A
11g.71438944C>ACA6162467DHCR7c.766G>T (p.Ala256Ser)
c.592G>T (p.Ala198Ser)
c.817G>T (p.Ala273Ser)
c.802G>T (p.Ala268Ser)
n.806G>T
c.181G>T (p.Ala61Ser)
c.670G>T (p.Ala224Ser)
c.133G>T (p.Ala45Ser)
c.16G>T (p.Ala6Ser)
n.261G>T
c.122G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438944C=CA1981488566DHCR7c.766G= (p.Ala256=)
c.592G= (p.Ala198=)
c.817G= (p.Ala273=)
c.802G= (p.Ala268=)
n.806G=
c.181G= (p.Ala61=)
c.670G= (p.Ala224=)
c.133G= (p.Ala45=)
c.16G= (p.Ala6=)
n.261G=
c.122G=
11g.71438944C>GCA381703320DHCR7c.766G>C (p.Ala256Pro)
c.592G>C (p.Ala198Pro)
c.817G>C (p.Ala273Pro)
c.802G>C (p.Ala268Pro)
n.806G>C
c.181G>C (p.Ala61Pro)
c.670G>C (p.Ala224Pro)
c.133G>C (p.Ala45Pro)
c.16G>C (p.Ala6Pro)
n.261G>C
c.122G>C
11g.71438944C>TCA6162466DHCR7c.766G>A (p.Ala256Thr)
c.592G>A (p.Ala198Thr)
c.817G>A (p.Ala273Thr)
c.802G>A (p.Ala268Thr)
n.806G>A
c.181G>A (p.Ala61Thr)
c.670G>A (p.Ala224Thr)
c.133G>A (p.Ala45Thr)
c.16G>A (p.Ala6Thr)
n.261G>A
c.122G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.71438945G>ACA6162468DHCR7c.765C>T (p.Phe255=)
c.591C>T (p.Phe197=)
c.816C>T (p.Phe272=)
c.801C>T (p.Phe267=)
n.805C>T
c.180C>T (p.Phe60=)
c.669C>T (p.Phe223=)
c.132C>T (p.Phe44=)
c.15C>T (p.Phe5=)
n.260C>T
c.121C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71438945G>CCA381703321DHCR7c.765C>G (p.Phe255Leu)
c.591C>G (p.Phe197Leu)
c.816C>G (p.Phe272Leu)
c.801C>G (p.Phe267Leu)
n.805C>G
c.180C>G (p.Phe60Leu)
c.669C>G (p.Phe223Leu)
c.132C>G (p.Phe44Leu)
c.15C>G (p.Phe5Leu)
n.260C>G
c.121C>G
11g.71438945G=CA1981488567DHCR7c.765C= (p.Phe255=)
c.591C= (p.Phe197=)
c.816C= (p.Phe272=)
c.801C= (p.Phe267=)
n.805C=
c.180C= (p.Phe60=)
c.669C= (p.Phe223=)
c.132C= (p.Phe44=)
c.15C= (p.Phe5=)
n.260C=
c.121C=
11g.71438945G>TCA381703322DHCR7c.765C>A (p.Phe255Leu)
c.591C>A (p.Phe197Leu)
c.816C>A (p.Phe272Leu)
c.801C>A (p.Phe267Leu)
n.805C>A
c.180C>A (p.Phe60Leu)
c.669C>A (p.Phe223Leu)
c.132C>A (p.Phe44Leu)
c.15C>A (p.Phe5Leu)
n.260C>A
c.121C>A
 gnomAD v4
11g.71438946A>CCA381703323DHCR7c.764T>G (p.Phe255Cys)
c.590T>G (p.Phe197Cys)
c.815T>G (p.Phe272Cys)
c.800T>G (p.Phe267Cys)
n.804T>G
c.179T>G (p.Phe60Cys)
c.668T>G (p.Phe223Cys)
c.131T>G (p.Phe44Cys)
c.14T>G (p.Phe5Cys)
n.259T>G
c.120T>G
11g.71438946A>GCA381703324DHCR7c.764T>C (p.Phe255Ser)
c.590T>C (p.Phe197Ser)
c.815T>C (p.Phe272Ser)
c.800T>C (p.Phe267Ser)
n.804T>C
c.179T>C (p.Phe60Ser)
c.668T>C (p.Phe223Ser)
c.131T>C (p.Phe44Ser)
c.14T>C (p.Phe5Ser)
n.259T>C
c.120T>C
11g.71438946A>TCA381703325DHCR7c.764T>A (p.Phe255Tyr)
c.590T>A (p.Phe197Tyr)
c.815T>A (p.Phe272Tyr)
c.800T>A (p.Phe267Tyr)
n.804T>A
c.179T>A (p.Phe60Tyr)
c.668T>A (p.Phe223Tyr)
c.131T>A (p.Phe44Tyr)
c.14T>A (p.Phe5Tyr)
n.259T>A
c.120T>A
11g.71438947A>CCA381703326DHCR7c.763T>G (p.Phe255Val)
c.589T>G (p.Phe197Val)
c.814T>G (p.Phe272Val)
c.799T>G (p.Phe267Val)
n.803T>G
c.178T>G (p.Phe60Val)
c.667T>G (p.Phe223Val)
c.130T>G (p.Phe44Val)
c.13T>G (p.Phe5Val)
n.258T>G
c.119T>G
11g.71438947A>GCA381703328DHCR7c.763T>C (p.Phe255Leu)
c.589T>C (p.Phe197Leu)
c.814T>C (p.Phe272Leu)
c.799T>C (p.Phe267Leu)
n.803T>C
c.178T>C (p.Phe60Leu)
c.667T>C (p.Phe223Leu)
c.130T>C (p.Phe44Leu)
c.13T>C (p.Phe5Leu)
n.258T>C
c.119T>C
11g.71438947A>TCA381703327DHCR7c.763T>A (p.Phe255Ile)
c.589T>A (p.Phe197Ile)
c.814T>A (p.Phe272Ile)
c.799T>A (p.Phe267Ile)
n.803T>A
c.178T>A (p.Phe60Ile)
c.667T>A (p.Phe223Ile)
c.130T>A (p.Phe44Ile)
c.13T>A (p.Phe5Ile)
n.258T>A
c.119T>A
11g.71438948G>ACA224327860DHCR7c.762C>T (p.Ser254=)
c.588C>T (p.Ser196=)
c.813C>T (p.Ser271=)
c.798C>T (p.Ser266=)
n.802C>T
c.177C>T (p.Ser59=)
c.666C>T (p.Ser222=)
c.129C>T (p.Ser43=)
c.12C>T (p.Ser4=)
n.257C>T
c.118C>T
 ClinVar dbSNP
11g.71438948G>CCA224327851DHCR7c.762C>G (p.Ser254=)
c.588C>G (p.Ser196=)
c.813C>G (p.Ser271=)
c.798C>G (p.Ser266=)
n.802C>G
c.177C>G (p.Ser59=)
c.666C>G (p.Ser222=)
c.129C>G (p.Ser43=)
c.12C>G (p.Ser4=)
n.257C>G
c.118C>G
 dbSNP
11g.71438948G=CA1981488568DHCR7c.762C= (p.Ser254=)
c.588C= (p.Ser196=)
c.813C= (p.Ser271=)
c.798C= (p.Ser266=)
n.802C=
c.177C= (p.Ser59=)
c.666C= (p.Ser222=)
c.129C= (p.Ser43=)
c.12C= (p.Ser4=)
n.257C=
c.118C=
11g.71438948G>TCA475569599DHCR7c.762C>A (p.Ser254=)
c.588C>A (p.Ser196=)
c.813C>A (p.Ser271=)
c.798C>A (p.Ser266=)
n.802C>A
c.177C>A (p.Ser59=)
c.666C>A (p.Ser222=)
c.129C>A (p.Ser43=)
c.12C>A (p.Ser4=)
n.257C>A
c.118C>A
11g.71438948_71438949insACA2580084840DHCR7c.761_762insT (p.Phe255LeufsTer29)
c.587_588insT (p.Phe197LeufsTer29)
c.812_813insT (p.Phe272LeufsTer29)
c.797_798insT (p.Phe267LeufsTer29)
n.801_802insT
c.176_177insT (p.Phe60LeufsTer29)
c.665_666insT (p.Phe223LeufsTer29)
c.128_129insT (p.Phe44LeufsTer29)
c.11_12insT (p.Phe5LeufsTer29)
n.256_257insT
c.117_118insT
 ClinVar
11g.71438949G>ACA381703329DHCR7c.761C>T (p.Ser254Phe)
c.587C>T (p.Ser196Phe)
c.812C>T (p.Ser271Phe)
c.797C>T (p.Ser266Phe)
n.801C>T
c.176C>T (p.Ser59Phe)
c.665C>T (p.Ser222Phe)
c.128C>T (p.Ser43Phe)
c.11C>T (p.Ser4Phe)
n.256C>T
c.117C>T
11g.71438949G>CCA381703330DHCR7c.761C>G (p.Ser254Cys)
c.587C>G (p.Ser196Cys)
c.812C>G (p.Ser271Cys)
c.797C>G (p.Ser266Cys)
n.801C>G
c.176C>G (p.Ser59Cys)
c.665C>G (p.Ser222Cys)
c.128C>G (p.Ser43Cys)
c.11C>G (p.Ser4Cys)
n.256C>G
c.117C>G
11g.71438949G>TCA381703331DHCR7c.761C>A (p.Ser254Tyr)
c.587C>A (p.Ser196Tyr)
c.812C>A (p.Ser271Tyr)
c.797C>A (p.Ser266Tyr)
n.801C>A
c.176C>A (p.Ser59Tyr)
c.665C>A (p.Ser222Tyr)
c.128C>A (p.Ser43Tyr)
c.11C>A (p.Ser4Tyr)
n.256C>A
c.117C>A
11g.71438950A>CCA381703333DHCR7c.760T>G (p.Ser254Ala)
c.586T>G (p.Ser196Ala)
c.811T>G (p.Ser271Ala)
c.796T>G (p.Ser266Ala)
n.800T>G
c.175T>G (p.Ser59Ala)
c.664T>G (p.Ser222Ala)
c.127T>G (p.Ser43Ala)
c.10T>G (p.Ser4Ala)
n.255T>G
c.116T>G
11g.71438950A>GCA381703334DHCR7c.760T>C (p.Ser254Pro)
c.586T>C (p.Ser196Pro)
c.811T>C (p.Ser271Pro)
c.796T>C (p.Ser266Pro)
n.800T>C
c.175T>C (p.Ser59Pro)
c.664T>C (p.Ser222Pro)
c.127T>C (p.Ser43Pro)
c.10T>C (p.Ser4Pro)
n.255T>C
c.116T>C
 gnomAD v4
11g.71438950A>TCA381703332DHCR7c.760T>A (p.Ser254Thr)
c.586T>A (p.Ser196Thr)
c.811T>A (p.Ser271Thr)
c.796T>A (p.Ser266Thr)
n.800T>A
c.175T>A (p.Ser59Thr)
c.664T>A (p.Ser222Thr)
c.127T>A (p.Ser43Thr)
c.10T>A (p.Ser4Thr)
n.255T>A
c.116T>A
11g.71438951C>ACA475569622DHCR7c.759G>T (p.Leu253=)
c.585G>T (p.Leu195=)
c.810G>T (p.Leu270=)
c.795G>T (p.Leu265=)
n.799G>T
c.174G>T (p.Leu58=)
c.663G>T (p.Leu221=)
c.126G>T (p.Leu42=)
c.9G>T (p.Leu3=)
n.254G>T
c.115G>T
11g.71438951C>GCA475569627DHCR7c.759G>C (p.Leu253=)
c.585G>C (p.Leu195=)
c.810G>C (p.Leu270=)
c.795G>C (p.Leu265=)
n.799G>C
c.174G>C (p.Leu58=)
c.663G>C (p.Leu221=)
c.126G>C (p.Leu42=)
c.9G>C (p.Leu3=)
n.254G>C
c.115G>C
11g.71438951C>TCA475569625DHCR7c.759G>A (p.Leu253=)
c.585G>A (p.Leu195=)
c.810G>A (p.Leu270=)
c.795G>A (p.Leu265=)
n.799G>A
c.174G>A (p.Leu58=)
c.663G>A (p.Leu221=)
c.126G>A (p.Leu42=)
c.9G>A (p.Leu3=)
n.254G>A
c.115G>A
11g.71438952A>CCA381703335DHCR7c.758T>G (p.Leu253Arg)
c.584T>G (p.Leu195Arg)
c.809T>G (p.Leu270Arg)
c.794T>G (p.Leu265Arg)
n.798T>G
c.173T>G (p.Leu58Arg)
c.662T>G (p.Leu221Arg)
c.125T>G (p.Leu42Arg)
c.8T>G (p.Leu3Arg)
n.253T>G
c.114T>G
11g.71438952A>GCA381703337DHCR7c.758T>C (p.Leu253Pro)
c.584T>C (p.Leu195Pro)
c.809T>C (p.Leu270Pro)
c.794T>C (p.Leu265Pro)
n.798T>C
c.173T>C (p.Leu58Pro)
c.662T>C (p.Leu221Pro)
c.125T>C (p.Leu42Pro)
c.8T>C (p.Leu3Pro)
n.253T>C
c.114T>C
11g.71438952A>TCA381703336DHCR7c.758T>A (p.Leu253Gln)
c.584T>A (p.Leu195Gln)
c.809T>A (p.Leu270Gln)
c.794T>A (p.Leu265Gln)
n.798T>A
c.173T>A (p.Leu58Gln)
c.662T>A (p.Leu221Gln)
c.125T>A (p.Leu42Gln)
c.8T>A (p.Leu3Gln)
n.253T>A
c.114T>A
11g.71438953G>ACA475569637DHCR7c.757C>T (p.Leu253=)
c.583C>T (p.Leu195=)
c.808C>T (p.Leu270=)
c.793C>T (p.Leu265=)
n.797C>T
c.172C>T (p.Leu58=)
c.661C>T (p.Leu221=)
c.124C>T (p.Leu42=)
c.7C>T (p.Leu3=)
n.252C>T
c.113C>T
 ClinVar
11g.71438953G>CCA381703338DHCR7c.757C>G (p.Leu253Val)
c.583C>G (p.Leu195Val)
c.808C>G (p.Leu270Val)
c.793C>G (p.Leu265Val)
n.797C>G
c.172C>G (p.Leu58Val)
c.661C>G (p.Leu221Val)
c.124C>G (p.Leu42Val)
c.7C>G (p.Leu3Val)
n.252C>G
c.113C>G
11g.71438953G>TCA381703339DHCR7c.757C>A (p.Leu253Met)
c.583C>A (p.Leu195Met)
c.808C>A (p.Leu270Met)
c.793C>A (p.Leu265Met)
n.797C>A
c.172C>A (p.Leu58Met)
c.661C>A (p.Leu221Met)
c.124C>A (p.Leu42Met)
c.7C>A (p.Leu3Met)
n.252C>A
c.113C>A
11g.71438954G>ACA6162469DHCR7c.756C>T (p.Asn252=)
c.582C>T (p.Asn194=)
c.807C>T (p.Asn269=)
c.792C>T (p.Asn264=)
n.796C>T
c.171C>T (p.Asn57=)
c.660C>T (p.Asn220=)
c.123C>T (p.Asn41=)
c.6C>T (p.Asn2=)
n.251C>T
c.112C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438954G>CCA381703340DHCR7c.756C>G (p.Asn252Lys)
c.582C>G (p.Asn194Lys)
c.807C>G (p.Asn269Lys)
c.792C>G (p.Asn264Lys)
n.796C>G
c.171C>G (p.Asn57Lys)
c.660C>G (p.Asn220Lys)
c.123C>G (p.Asn41Lys)
c.6C>G (p.Asn2Lys)
n.251C>G
c.112C>G
 dbSNP gnomAD v2 gnomAD v4
11g.71438954G=CA1981488569DHCR7c.756C= (p.Asn252=)
c.582C= (p.Asn194=)
c.807C= (p.Asn269=)
c.792C= (p.Asn264=)
n.796C=
c.171C= (p.Asn57=)
c.660C= (p.Asn220=)
c.123C= (p.Asn41=)
c.6C= (p.Asn2=)
n.251C=
c.112C=
11g.71438954G>TCA381703341DHCR7c.756C>A (p.Asn252Lys)
c.582C>A (p.Asn194Lys)
c.807C>A (p.Asn269Lys)
c.792C>A (p.Asn264Lys)
n.796C>A
c.171C>A (p.Asn57Lys)
c.660C>A (p.Asn220Lys)
c.123C>A (p.Asn41Lys)
c.6C>A (p.Asn2Lys)
n.251C>A
c.112C>A
11g.71438955T>ACA381703342DHCR7c.755A>T (p.Asn252Ile)
c.581A>T (p.Asn194Ile)
c.806A>T (p.Asn269Ile)
c.791A>T (p.Asn264Ile)
n.795A>T
c.170A>T (p.Asn57Ile)
c.659A>T (p.Asn220Ile)
c.122A>T (p.Asn41Ile)
c.5A>T (p.Asn2Ile)
n.250A>T
c.111A>T
 dbSNP
11g.71438955T>CCA381703343DHCR7c.755A>G (p.Asn252Ser)
c.581A>G (p.Asn194Ser)
c.806A>G (p.Asn269Ser)
c.791A>G (p.Asn264Ser)
n.795A>G
c.170A>G (p.Asn57Ser)
c.659A>G (p.Asn220Ser)
c.122A>G (p.Asn41Ser)
c.5A>G (p.Asn2Ser)
n.250A>G
c.111A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.71438955T>GCA381703344DHCR7c.755A>C (p.Asn252Thr)
c.581A>C (p.Asn194Thr)
c.806A>C (p.Asn269Thr)
c.791A>C (p.Asn264Thr)
n.795A>C
c.170A>C (p.Asn57Thr)
c.659A>C (p.Asn220Thr)
c.122A>C (p.Asn41Thr)
c.5A>C (p.Asn2Thr)
n.250A>C
c.111A>C
11g.71438955T=CA1981488570DHCR7c.755A= (p.Asn252=)
c.581A= (p.Asn194=)
c.806A= (p.Asn269=)
c.791A= (p.Asn264=)
n.795A=
c.170A= (p.Asn57=)
c.659A= (p.Asn220=)
c.122A= (p.Asn41=)
c.5A= (p.Asn2=)
n.250A=
c.111A=
11g.71438956T>ACA381703345DHCR7c.754A>T (p.Asn252Tyr)
c.580A>T (p.Asn194Tyr)
c.805A>T (p.Asn269Tyr)
c.790A>T (p.Asn264Tyr)
n.794A>T
c.169A>T (p.Asn57Tyr)
c.658A>T (p.Asn220Tyr)
c.121A>T (p.Asn41Tyr)
c.4A>T (p.Asn2Tyr)
n.249A>T
c.110A>T
11g.71438956T>CCA381703346DHCR7c.754A>G (p.Asn252Asp)
c.580A>G (p.Asn194Asp)
c.805A>G (p.Asn269Asp)
c.790A>G (p.Asn264Asp)
n.794A>G
c.169A>G (p.Asn57Asp)
c.658A>G (p.Asn220Asp)
c.121A>G (p.Asn41Asp)
c.4A>G (p.Asn2Asp)
n.249A>G
c.110A>G
 gnomAD v4
11g.71438956T>GCA381703347DHCR7c.754A>C (p.Asn252His)
c.580A>C (p.Asn194His)
c.805A>C (p.Asn269His)
c.790A>C (p.Asn264His)
n.794A>C
c.169A>C (p.Asn57His)
c.658A>C (p.Asn220His)
c.121A>C (p.Asn41His)
c.4A>C (p.Asn2His)
n.249A>C
c.110A>C
11g.71438957G>ACA475569658DHCR7c.753C>T (p.Ile251=)
c.579C>T (p.Ile193=)
c.804C>T (p.Ile268=)
c.789C>T (p.Ile263=)
n.793C>T
c.168C>T (p.Ile56=)
c.657C>T (p.Ile219=)
c.120C>T (p.Ile40=)
c.3C>T (p.Ile1=)
n.248C>T
c.109C>T
 ClinVar dbSNP gnomAD v4
11g.71438957G>CCA381703348DHCR7c.753C>G (p.Ile251Met)
c.579C>G (p.Ile193Met)
c.804C>G (p.Ile268Met)
c.789C>G (p.Ile263Met)
n.793C>G
c.168C>G (p.Ile56Met)
c.657C>G (p.Ile219Met)
c.120C>G (p.Ile40Met)
c.3C>G (p.Ile1Met)
n.248C>G
c.109C>G
 gnomAD v4
11g.71438957G=CA1981488571DHCR7c.753C= (p.Ile251=)
c.579C= (p.Ile193=)
c.804C= (p.Ile268=)
c.789C= (p.Ile263=)
n.793C=
c.168C= (p.Ile56=)
c.657C= (p.Ile219=)
c.120C= (p.Ile40=)
c.3C= (p.Ile1=)
n.248C=
c.109C=
11g.71438957G>TCA475569662DHCR7c.753C>A (p.Ile251=)
c.579C>A (p.Ile193=)
c.804C>A (p.Ile268=)
c.789C>A (p.Ile263=)
n.793C>A
c.168C>A (p.Ile56=)
c.657C>A (p.Ile219=)
c.120C>A (p.Ile40=)
c.3C>A (p.Ile1=)
n.248C>A
c.109C>A
11g.71438958A>CCA381703349DHCR7c.752T>G (p.Ile251Ser)
c.578T>G (p.Ile193Ser)
c.803T>G (p.Ile268Ser)
c.788T>G (p.Ile263Ser)
n.792T>G
c.167T>G (p.Ile56Ser)
c.656T>G (p.Ile219Ser)
c.119T>G (p.Ile40Ser)
c.2T>G (p.Ile1Ser)
n.247T>G
c.108T>G
11g.71438958A>GCA381703351DHCR7c.752T>C (p.Ile251Thr)
c.578T>C (p.Ile193Thr)
c.803T>C (p.Ile268Thr)
c.788T>C (p.Ile263Thr)
n.792T>C
c.167T>C (p.Ile56Thr)
c.656T>C (p.Ile219Thr)
c.119T>C (p.Ile40Thr)
c.2T>C (p.Ile1Thr)
n.247T>C
c.108T>C
11g.71438958A>TCA381703350DHCR7c.752T>A (p.Ile251Asn)
c.578T>A (p.Ile193Asn)
c.803T>A (p.Ile268Asn)
c.788T>A (p.Ile263Asn)
n.792T>A
c.167T>A (p.Ile56Asn)
c.656T>A (p.Ile219Asn)
c.119T>A (p.Ile40Asn)
c.2T>A (p.Ile1Asn)
n.247T>A
c.108T>A
11g.71438959T>ACA381703352DHCR7c.751A>T (p.Ile251Phe)
c.577A>T (p.Ile193Phe)
c.802A>T (p.Ile268Phe)
c.787A>T (p.Ile263Phe)
n.791A>T
c.166A>T (p.Ile56Phe)
c.655A>T (p.Ile219Phe)
c.118A>T (p.Ile40Phe)
c.1A>T (p.Ile1Phe)
n.246A>T
c.107A>T
11g.71438959T>CCA6162470DHCR7c.751A>G (p.Ile251Val)
c.577A>G (p.Ile193Val)
c.802A>G (p.Ile268Val)
c.787A>G (p.Ile263Val)
n.791A>G
c.166A>G (p.Ile56Val)
c.655A>G (p.Ile219Val)
c.118A>G (p.Ile40Val)
c.1A>G (p.Ile1Val)
n.246A>G
c.107A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438959T>GCA381703353DHCR7c.751A>C (p.Ile251Leu)
c.577A>C (p.Ile193Leu)
c.802A>C (p.Ile268Leu)
c.787A>C (p.Ile263Leu)
n.791A>C
c.166A>C (p.Ile56Leu)
c.655A>C (p.Ile219Leu)
c.118A>C (p.Ile40Leu)
c.1A>C (p.Ile1Leu)
n.246A>C
c.107A>C
11g.71438959T=CA1981488572DHCR7c.751A= (p.Ile251=)
c.577A= (p.Ile193=)
c.802A= (p.Ile268=)
c.787A= (p.Ile263=)
n.791A=
c.166A= (p.Ile56=)
c.655A= (p.Ile219=)
c.118A= (p.Ile40=)
c.1A= (p.Ile1=)
n.246A=
c.107A=
11g.71438960G>ACA475569682DHCR7c.750C>T (p.Leu250=)
c.576C>T (p.Leu192=)
c.801C>T (p.Leu267=)
c.786C>T (p.Leu262=)
n.790C>T
c.165C>T (p.Leu55=)
c.654C>T (p.Leu218=)
c.117C>T (p.Leu39=)
n.245C>T
c.106C>T
 gnomAD v4
11g.71438960G>CCA475569679DHCR7c.750C>G (p.Leu250=)
c.576C>G (p.Leu192=)
c.801C>G (p.Leu267=)
c.786C>G (p.Leu262=)
n.790C>G
c.165C>G (p.Leu55=)
c.654C>G (p.Leu218=)
c.117C>G (p.Leu39=)
n.245C>G
c.106C>G
 ClinVar dbSNP
11g.71438960G>TCA475569677DHCR7c.750C>A (p.Leu250=)
c.576C>A (p.Leu192=)
c.801C>A (p.Leu267=)
c.786C>A (p.Leu262=)
n.790C>A
c.165C>A (p.Leu55=)
c.654C>A (p.Leu218=)
c.117C>A (p.Leu39=)
n.245C>A
c.106C>A
11g.71438961A=CA1981488573DHCR7c.749T= (p.Leu250=)
c.575T= (p.Leu192=)
c.800T= (p.Leu267=)
c.785T= (p.Leu262=)
n.789T=
c.164T= (p.Leu55=)
c.653T= (p.Leu218=)
c.116T= (p.Leu39=)
n.244T=
c.105T=
11g.71438961A>CCA381703354DHCR7c.749T>G (p.Leu250Arg)
c.575T>G (p.Leu192Arg)
c.800T>G (p.Leu267Arg)
c.785T>G (p.Leu262Arg)
n.789T>G
c.164T>G (p.Leu55Arg)
c.653T>G (p.Leu218Arg)
c.116T>G (p.Leu39Arg)
n.244T>G
c.105T>G
11g.71438961A>GCA381703355DHCR7c.749T>C (p.Leu250Pro)
c.575T>C (p.Leu192Pro)
c.800T>C (p.Leu267Pro)
c.785T>C (p.Leu262Pro)
n.789T>C
c.164T>C (p.Leu55Pro)
c.653T>C (p.Leu218Pro)
c.116T>C (p.Leu39Pro)
n.244T>C
c.105T>C
 dbSNP
11g.71438961A>TCA381703356DHCR7c.749T>A (p.Leu250His)
c.575T>A (p.Leu192His)
c.800T>A (p.Leu267His)
c.785T>A (p.Leu262His)
n.789T>A
c.164T>A (p.Leu55His)
c.653T>A (p.Leu218His)
c.116T>A (p.Leu39His)
n.244T>A
c.105T>A
11g.71438962G>ACA381703357DHCR7c.748C>T (p.Leu250Phe)
c.574C>T (p.Leu192Phe)
c.799C>T (p.Leu267Phe)
c.784C>T (p.Leu262Phe)
n.788C>T
c.163C>T (p.Leu55Phe)
c.652C>T (p.Leu218Phe)
c.115C>T (p.Leu39Phe)
n.243C>T
c.104C>T
11g.71438962G>CCA6162471DHCR7c.748C>G (p.Leu250Val)
c.574C>G (p.Leu192Val)
c.799C>G (p.Leu267Val)
c.784C>G (p.Leu262Val)
n.788C>G
c.163C>G (p.Leu55Val)
c.652C>G (p.Leu218Val)
c.115C>G (p.Leu39Val)
n.243C>G
c.104C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438962G=CA1981488574DHCR7c.748C= (p.Leu250=)
c.574C= (p.Leu192=)
c.799C= (p.Leu267=)
c.784C= (p.Leu262=)
n.788C=
c.163C= (p.Leu55=)
c.652C= (p.Leu218=)
c.115C= (p.Leu39=)
n.243C=
c.104C=
11g.71438962G>TCA381703358DHCR7c.748C>A (p.Leu250Ile)
c.574C>A (p.Leu192Ile)
c.799C>A (p.Leu267Ile)
c.784C>A (p.Leu262Ile)
n.788C>A
c.163C>A (p.Leu55Ile)
c.652C>A (p.Leu218Ile)
c.115C>A (p.Leu39Ile)
n.243C>A
c.104C>A
11g.71438964delCA2739270677DHCR7c.748del (p.Leu250SerfsTer17)
c.574del (p.Leu192SerfsTer17)
c.799del (p.Leu267SerfsTer17)
c.784del (p.Leu262SerfsTer17)
n.788del
c.163del (p.Leu55SerfsTer17)
c.652del (p.Leu218SerfsTer17)
c.115del (p.Leu39SerfsTer17)
n.243del
c.104del
 ClinVar
11g.71438963G>ACA475569694DHCR7c.747C>T (p.Thr249=)
c.573C>T (p.Thr191=)
c.798C>T (p.Thr266=)
c.783C>T (p.Thr261=)
n.787C>T
c.162C>T (p.Thr54=)
c.651C>T (p.Thr217=)
c.114C>T (p.Thr38=)
n.242C>T
c.103C>T
11g.71438963G>CCA475569696DHCR7c.747C>G (p.Thr249=)
c.573C>G (p.Thr191=)
c.798C>G (p.Thr266=)
c.783C>G (p.Thr261=)
n.787C>G
c.162C>G (p.Thr54=)
c.651C>G (p.Thr217=)
c.114C>G (p.Thr38=)
n.242C>G
c.103C>G
 ClinVar dbSNP
11g.71438963G>TCA475569698DHCR7c.747C>A (p.Thr249=)
c.573C>A (p.Thr191=)
c.798C>A (p.Thr266=)
c.783C>A (p.Thr261=)
n.787C>A
c.162C>A (p.Thr54=)
c.651C>A (p.Thr217=)
c.114C>A (p.Thr38=)
n.242C>A
c.103C>A
11g.71438964G>ACA381703360DHCR7c.746C>T (p.Thr249Ile)
c.572C>T (p.Thr191Ile)
c.797C>T (p.Thr266Ile)
c.782C>T (p.Thr261Ile)
n.786C>T
c.161C>T (p.Thr54Ile)
c.650C>T (p.Thr217Ile)
c.113C>T (p.Thr38Ile)
n.241C>T
c.102C>T
 dbSNP gnomAD v4
11g.71438964G>CCA381703361DHCR7c.746C>G (p.Thr249Ser)
c.572C>G (p.Thr191Ser)
c.797C>G (p.Thr266Ser)
c.782C>G (p.Thr261Ser)
n.786C>G
c.161C>G (p.Thr54Ser)
c.650C>G (p.Thr217Ser)
c.113C>G (p.Thr38Ser)
n.241C>G
c.102C>G
11g.71438964G=CA1981488575DHCR7c.746C= (p.Thr249=)
c.572C= (p.Thr191=)
c.797C= (p.Thr266=)
c.782C= (p.Thr261=)
n.786C=
c.161C= (p.Thr54=)
c.650C= (p.Thr217=)
c.113C= (p.Thr38=)
n.241C=
c.102C=
11g.71438964G>TCA381703359DHCR7c.746C>A (p.Thr249Asn)
c.572C>A (p.Thr191Asn)
c.797C>A (p.Thr266Asn)
c.782C>A (p.Thr261Asn)
n.786C>A
c.161C>A (p.Thr54Asn)
c.650C>A (p.Thr217Asn)
c.113C>A (p.Thr38Asn)
n.241C>A
c.102C>A
11g.71438965T>ACA381703362DHCR7c.745A>T (p.Thr249Ser)
c.571A>T (p.Thr191Ser)
c.796A>T (p.Thr266Ser)
c.781A>T (p.Thr261Ser)
n.785A>T
c.160A>T (p.Thr54Ser)
c.649A>T (p.Thr217Ser)
c.112A>T (p.Thr38Ser)
n.240A>T
c.101A>T
11g.71438965T>CCA381703363DHCR7c.745A>G (p.Thr249Ala)
c.571A>G (p.Thr191Ala)
c.796A>G (p.Thr266Ala)
c.781A>G (p.Thr261Ala)
n.785A>G
c.160A>G (p.Thr54Ala)
c.649A>G (p.Thr217Ala)
c.112A>G (p.Thr38Ala)
n.240A>G
c.101A>G
11g.71438965T>GCA381703364DHCR7c.745A>C (p.Thr249Pro)
c.571A>C (p.Thr191Pro)
c.796A>C (p.Thr266Pro)
c.781A>C (p.Thr261Pro)
n.785A>C
c.160A>C (p.Thr54Pro)
c.649A>C (p.Thr217Pro)
c.112A>C (p.Thr38Pro)
n.240A>C
c.101A>C
11g.71438966C>ACA253942DHCR7c.744G>T (p.Trp248Cys)
c.570G>T (p.Trp190Cys)
c.795G>T (p.Trp265Cys)
c.780G>T (p.Trp260Cys)
n.784G>T
c.159G>T (p.Trp53Cys)
c.648G>T (p.Trp216Cys)
c.111G>T (p.Trp37Cys)
n.239G>T
c.100G>T
 ClinVar dbSNP
11g.71438966C=CA1981488576DHCR7c.744G= (p.Trp248=)
c.570G= (p.Trp190=)
c.795G= (p.Trp265=)
c.780G= (p.Trp260=)
n.784G=
c.159G= (p.Trp53=)
c.648G= (p.Trp216=)
c.111G= (p.Trp37=)
n.239G=
c.100G=
11g.71438966C>GCA381703365DHCR7c.744G>C (p.Trp248Cys)
c.570G>C (p.Trp190Cys)
c.795G>C (p.Trp265Cys)
c.780G>C (p.Trp260Cys)
n.784G>C
c.159G>C (p.Trp53Cys)
c.648G>C (p.Trp216Cys)
c.111G>C (p.Trp37Cys)
n.239G>C
c.100G>C
 gnomAD v4
11g.71438966C>TCA381703366DHCR7c.744G>A (p.Trp248Ter)
c.570G>A (p.Trp190Ter)
c.795G>A (p.Trp265Ter)
c.780G>A (p.Trp260Ter)
n.784G>A
c.159G>A (p.Trp53Ter)
c.648G>A (p.Trp216Ter)
c.111G>A (p.Trp37Ter)
n.239G>A
c.100G>A
 ClinVar dbSNP
11g.71438967C>ACA381703369DHCR7c.743G>T (p.Trp248Leu)
c.569G>T (p.Trp190Leu)
c.794G>T (p.Trp265Leu)
c.779G>T (p.Trp260Leu)
n.783G>T
c.158G>T (p.Trp53Leu)
c.647G>T (p.Trp216Leu)
c.110G>T (p.Trp37Leu)
n.238G>T
c.99G>T
 dbSNP
11g.71438967C=CA1981488577DHCR7c.743G= (p.Trp248=)
c.569G= (p.Trp190=)
c.794G= (p.Trp265=)
c.779G= (p.Trp260=)
n.783G=
c.158G= (p.Trp53=)
c.647G= (p.Trp216=)
c.110G= (p.Trp37=)
n.238G=
c.99G=
11g.71438967C>GCA381703367DHCR7c.743G>C (p.Trp248Ser)
c.569G>C (p.Trp190Ser)
c.794G>C (p.Trp265Ser)
c.779G>C (p.Trp260Ser)
n.783G>C
c.158G>C (p.Trp53Ser)
c.647G>C (p.Trp216Ser)
c.110G>C (p.Trp37Ser)
n.238G>C
c.99G>C
11g.71438967C>TCA381703368DHCR7c.743G>A (p.Trp248Ter)
c.569G>A (p.Trp190Ter)
c.794G>A (p.Trp265Ter)
c.779G>A (p.Trp260Ter)
n.783G>A
c.158G>A (p.Trp53Ter)
c.647G>A (p.Trp216Ter)
c.110G>A (p.Trp37Ter)
n.238G>A
c.99G>A
11g.71438968A=CA1981488578DHCR7c.742T= (p.Trp248=)
c.568T= (p.Trp190=)
c.793T= (p.Trp265=)
c.778T= (p.Trp260=)
n.782T=
c.157T= (p.Trp53=)
c.646T= (p.Trp216=)
c.109T= (p.Trp37=)
n.237T=
c.98T=
11g.71438968A>CCA381703370DHCR7c.742T>G (p.Trp248Gly)
c.568T>G (p.Trp190Gly)
c.793T>G (p.Trp265Gly)
c.778T>G (p.Trp260Gly)
n.782T>G
c.157T>G (p.Trp53Gly)
c.646T>G (p.Trp216Gly)
c.109T>G (p.Trp37Gly)
n.237T>G
c.98T>G
11g.71438968A>GCA10606828DHCR7c.742T>C (p.Trp248Arg)
c.568T>C (p.Trp190Arg)
c.793T>C (p.Trp265Arg)
c.778T>C (p.Trp260Arg)
n.782T>C
c.157T>C (p.Trp53Arg)
c.646T>C (p.Trp216Arg)
c.109T>C (p.Trp37Arg)
n.237T>C
c.98T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.71438968A>TCA381703371DHCR7c.742T>A (p.Trp248Arg)
c.568T>A (p.Trp190Arg)
c.793T>A (p.Trp265Arg)
c.778T>A (p.Trp260Arg)
n.782T>A
c.157T>A (p.Trp53Arg)
c.646T>A (p.Trp216Arg)
c.109T>A (p.Trp37Arg)
n.237T>A
c.98T>A
11g.71438969G>ACA6162473DHCR7c.741C>T (p.Ala247=)
c.567C>T (p.Ala189=)
c.792C>T (p.Ala264=)
c.777C>T (p.Ala259=)
n.781C>T
c.156C>T (p.Ala52=)
c.645C>T (p.Ala215=)
c.108C>T (p.Ala36=)
n.236C>T
c.97C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438969G>CCA6162472DHCR7c.741C>G (p.Ala247=)
c.567C>G (p.Ala189=)
c.792C>G (p.Ala264=)
c.777C>G (p.Ala259=)
n.781C>G
c.156C>G (p.Ala52=)
c.645C>G (p.Ala215=)
c.108C>G (p.Ala36=)
n.236C>G
c.97C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.71438969G=CA1981488579DHCR7c.741C= (p.Ala247=)
c.567C= (p.Ala189=)
c.792C= (p.Ala264=)
c.777C= (p.Ala259=)
n.781C=
c.156C= (p.Ala52=)
c.645C= (p.Ala215=)
c.108C= (p.Ala36=)
n.236C=
c.97C=
11g.71438969G>TCA475569732DHCR7c.741C>A (p.Ala247=)
c.567C>A (p.Ala189=)
c.792C>A (p.Ala264=)
c.777C>A (p.Ala259=)
n.781C>A
c.156C>A (p.Ala52=)
c.645C>A (p.Ala215=)
c.108C>A (p.Ala36=)
n.236C>A
c.97C>A
11g.71438970G>ACA10603223DHCR7c.740C>T (p.Ala247Val)
c.566C>T (p.Ala189Val)
c.791C>T (p.Ala264Val)
c.776C>T (p.Ala259Val)
n.780C>T
c.155C>T (p.Ala52Val)
c.644C>T (p.Ala215Val)
c.107C>T (p.Ala36Val)
n.235C>T
c.96C>T
 ClinVar dbSNP gnomAD v4
11g.71438970G>CCA381703373DHCR7c.740C>G (p.Ala247Gly)
c.566C>G (p.Ala189Gly)
c.791C>G (p.Ala264Gly)
c.776C>G (p.Ala259Gly)
n.780C>G
c.155C>G (p.Ala52Gly)
c.644C>G (p.Ala215Gly)
c.107C>G (p.Ala36Gly)
n.235C>G
c.96C>G
11g.71438970G=CA1981488580DHCR7c.740C= (p.Ala247=)
c.566C= (p.Ala189=)
c.791C= (p.Ala264=)
c.776C= (p.Ala259=)
n.780C=
c.155C= (p.Ala52=)
c.644C= (p.Ala215=)
c.107C= (p.Ala36=)
n.235C=
c.96C=
11g.71438970G>TCA381703372DHCR7c.740C>A (p.Ala247Asp)
c.566C>A (p.Ala189Asp)
c.791C>A (p.Ala264Asp)
c.776C>A (p.Ala259Asp)
n.780C>A
c.155C>A (p.Ala52Asp)
c.644C>A (p.Ala215Asp)
c.107C>A (p.Ala36Asp)
n.235C>A
c.96C>A
11g.71438971C>ACA381703374DHCR7c.739G>T (p.Ala247Ser)
c.565G>T (p.Ala189Ser)
c.790G>T (p.Ala264Ser)
c.775G>T (p.Ala259Ser)
n.779G>T
c.154G>T (p.Ala52Ser)
c.643G>T (p.Ala215Ser)
c.106G>T (p.Ala36Ser)
n.234G>T
c.95G>T
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
11g.71438971C=CA1981488581DHCR7c.739G= (p.Ala247=)
c.565G= (p.Ala189=)
c.790G= (p.Ala264=)
c.775G= (p.Ala259=)
n.779G=
c.154G= (p.Ala52=)
c.643G= (p.Ala215=)
c.106G= (p.Ala36=)
n.234G=
c.95G=
11g.71438971C>GCA381703375DHCR7c.739G>C (p.Ala247Pro)
c.565G>C (p.Ala189Pro)
c.790G>C (p.Ala264Pro)
c.775G>C (p.Ala259Pro)
n.779G>C
c.154G>C (p.Ala52Pro)
c.643G>C (p.Ala215Pro)
c.106G>C (p.Ala36Pro)
n.234G>C
c.95G>C
11g.71438971C>TCA6162474DHCR7c.739G>A (p.Ala247Thr)
c.565G>A (p.Ala189Thr)
c.790G>A (p.Ala264Thr)
c.775G>A (p.Ala259Thr)
n.779G>A
c.154G>A (p.Ala52Thr)
c.643G>A (p.Ala215Thr)
c.106G>A (p.Ala36Thr)
n.234G>A
c.95G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
11g.71438972G>ACA6162475DHCR7c.738C>T (p.Val246=)
c.564C>T (p.Val188=)
c.789C>T (p.Val263=)
c.774C>T (p.Val258=)
n.778C>T
c.153C>T (p.Val51=)
c.642C>T (p.Val214=)
c.105C>T (p.Val35=)
n.233C>T
c.94C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438972G>CCA475569745DHCR7c.738C>G (p.Val246=)
c.564C>G (p.Val188=)
c.789C>G (p.Val263=)
c.774C>G (p.Val258=)
n.778C>G
c.153C>G (p.Val51=)
c.642C>G (p.Val214=)
c.105C>G (p.Val35=)
n.233C>G
c.94C>G
11g.71438972G=CA1981488582DHCR7c.738C= (p.Val246=)
c.564C= (p.Val188=)
c.789C= (p.Val263=)
c.774C= (p.Val258=)
n.778C=
c.153C= (p.Val51=)
c.642C= (p.Val214=)
c.105C= (p.Val35=)
n.233C=
c.94C=
11g.71438972G>TCA475569746DHCR7c.738C>A (p.Val246=)
c.564C>A (p.Val188=)
c.789C>A (p.Val263=)
c.774C>A (p.Val258=)
n.778C>A
c.153C>A (p.Val51=)
c.642C>A (p.Val214=)
c.105C>A (p.Val35=)
n.233C>A
c.94C>A
11g.71438973A>CCA381703376DHCR7c.737T>G (p.Val246Gly)
c.563T>G (p.Val188Gly)
c.788T>G (p.Val263Gly)
c.773T>G (p.Val258Gly)
n.777T>G
c.152T>G (p.Val51Gly)
c.641T>G (p.Val214Gly)
c.104T>G (p.Val35Gly)
n.232T>G
c.93T>G
11g.71438973A>GCA381703377DHCR7c.737T>C (p.Val246Ala)
c.563T>C (p.Val188Ala)
c.788T>C (p.Val263Ala)
c.773T>C (p.Val258Ala)
n.777T>C
c.152T>C (p.Val51Ala)
c.641T>C (p.Val214Ala)
c.104T>C (p.Val35Ala)
n.232T>C
c.93T>C
11g.71438973A>TCA381703378DHCR7c.737T>A (p.Val246Asp)
c.563T>A (p.Val188Asp)
c.788T>A (p.Val263Asp)
c.773T>A (p.Val258Asp)
n.777T>A
c.152T>A (p.Val51Asp)
c.641T>A (p.Val214Asp)
c.104T>A (p.Val35Asp)
n.232T>A
c.93T>A
11g.71438974C>ACA381703379DHCR7c.736G>T (p.Val246Phe)
c.562G>T (p.Val188Phe)
c.787G>T (p.Val263Phe)
c.772G>T (p.Val258Phe)
n.776G>T
c.151G>T (p.Val51Phe)
c.640G>T (p.Val214Phe)
c.103G>T (p.Val35Phe)
n.231G>T
c.92G>T
11g.71438974C=CA1981488583DHCR7c.736G= (p.Val246=)
c.562G= (p.Val188=)
c.787G= (p.Val263=)
c.772G= (p.Val258=)
n.776G=
c.151G= (p.Val51=)
c.640G= (p.Val214=)
c.103G= (p.Val35=)
n.231G=
c.92G=
11g.71438974C>GCA381703380DHCR7c.736G>C (p.Val246Leu)
c.562G>C (p.Val188Leu)
c.787G>C (p.Val263Leu)
c.772G>C (p.Val258Leu)
n.776G>C
c.151G>C (p.Val51Leu)
c.640G>C (p.Val214Leu)
c.103G>C (p.Val35Leu)
n.231G>C
c.92G>C
11g.71438974C>TCA6162476DHCR7c.736G>A (p.Val246Ile)
c.562G>A (p.Val188Ile)
c.787G>A (p.Val263Ile)
c.772G>A (p.Val258Ile)
n.776G>A
c.151G>A (p.Val51Ile)
c.640G>A (p.Val214Ile)
c.103G>A (p.Val35Ile)
n.231G>A
c.92G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438975G>ACA6162477DHCR7c.735C>T (p.Ile245=)
c.561C>T (p.Ile187=)
c.786C>T (p.Ile262=)
c.771C>T (p.Ile257=)
n.775C>T
c.150C>T (p.Ile50=)
c.639C>T (p.Ile213=)
c.102C>T (p.Ile34=)
n.230C>T
c.91C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438975G>CCA381703381DHCR7c.735C>G (p.Ile245Met)
c.561C>G (p.Ile187Met)
c.786C>G (p.Ile262Met)
c.771C>G (p.Ile257Met)
n.775C>G
c.150C>G (p.Ile50Met)
c.639C>G (p.Ile213Met)
c.102C>G (p.Ile34Met)
n.230C>G
c.91C>G
11g.71438975G=CA1981488584DHCR7c.735C= (p.Ile245=)
c.561C= (p.Ile187=)
c.786C= (p.Ile262=)
c.771C= (p.Ile257=)
n.775C=
c.150C= (p.Ile50=)
c.639C= (p.Ile213=)
c.102C= (p.Ile34=)
n.230C=
c.91C=
11g.71438975G>TCA475569758DHCR7c.735C>A (p.Ile245=)
c.561C>A (p.Ile187=)
c.786C>A (p.Ile262=)
c.771C>A (p.Ile257=)
n.775C>A
c.150C>A (p.Ile50=)
c.639C>A (p.Ile213=)
c.102C>A (p.Ile34=)
n.230C>A
c.91C>A
 ClinVar dbSNP gnomAD v4
11g.71438975_71438990delCA2580084842DHCR7c.720_735del (p.Asn240LysfsTer22)
c.546_561del (p.Asn182LysfsTer22)
c.771_786del (p.Asn257LysfsTer22)
c.756_771del (p.Asn252LysfsTer22)
n.760_775del
c.135_150del (p.Asn45LysfsTer22)
c.624_639del (p.Asn208LysfsTer22)
c.87_102del (p.Asn29LysfsTer22)
n.215_230del
c.76_91del
 ClinVar gnomAD v4
11g.71438976A>CCA381703383DHCR7c.734T>G (p.Ile245Ser)
c.560T>G (p.Ile187Ser)
c.785T>G (p.Ile262Ser)
c.770T>G (p.Ile257Ser)
n.774T>G
c.149T>G (p.Ile50Ser)
c.638T>G (p.Ile213Ser)
c.101T>G (p.Ile34Ser)
n.229T>G
c.90T>G
11g.71438976A>GCA381703384DHCR7c.734T>C (p.Ile245Thr)
c.560T>C (p.Ile187Thr)
c.785T>C (p.Ile262Thr)
c.770T>C (p.Ile257Thr)
n.774T>C
c.149T>C (p.Ile50Thr)
c.638T>C (p.Ile213Thr)
c.101T>C (p.Ile34Thr)
n.229T>C
c.90T>C
11g.71438976A>TCA381703382DHCR7c.734T>A (p.Ile245Asn)
c.560T>A (p.Ile187Asn)
c.785T>A (p.Ile262Asn)
c.770T>A (p.Ile257Asn)
n.774T>A
c.149T>A (p.Ile50Asn)
c.638T>A (p.Ile213Asn)
c.101T>A (p.Ile34Asn)
n.229T>A
c.90T>A
11g.71438977T>ACA381703385DHCR7c.733A>T (p.Ile245Phe)
c.559A>T (p.Ile187Phe)
c.784A>T (p.Ile262Phe)
c.769A>T (p.Ile257Phe)
n.773A>T
c.148A>T (p.Ile50Phe)
c.637A>T (p.Ile213Phe)
c.100A>T (p.Ile34Phe)
n.228A>T
c.89A>T
11g.71438977T>CCA381703387DHCR7c.733A>G (p.Ile245Val)
c.559A>G (p.Ile187Val)
c.784A>G (p.Ile262Val)
c.769A>G (p.Ile257Val)
n.773A>G
c.148A>G (p.Ile50Val)
c.637A>G (p.Ile213Val)
c.100A>G (p.Ile34Val)
n.228A>G
c.89A>G
 gnomAD v4
11g.71438977T>GCA381703386DHCR7c.733A>C (p.Ile245Leu)
c.559A>C (p.Ile187Leu)
c.784A>C (p.Ile262Leu)
c.769A>C (p.Ile257Leu)
n.773A>C
c.148A>C (p.Ile50Leu)
c.637A>C (p.Ile213Leu)
c.100A>C (p.Ile34Leu)
n.228A>C
c.89A>C
11g.71438978C>ACA475569786DHCR7c.732G>T (p.Gly244=)
c.558G>T (p.Gly186=)
c.783G>T (p.Gly261=)
c.768G>T (p.Gly256=)
n.772G>T
c.147G>T (p.Gly49=)
c.636G>T (p.Gly212=)
c.99G>T (p.Gly33=)
n.227G>T
c.88G>T
11g.71438978C>GCA475569790DHCR7c.732G>C (p.Gly244=)
c.558G>C (p.Gly186=)
c.783G>C (p.Gly261=)
c.768G>C (p.Gly256=)
n.772G>C
c.147G>C (p.Gly49=)
c.636G>C (p.Gly212=)
c.99G>C (p.Gly33=)
n.227G>C
c.88G>C
11g.71438978C>TCA475569792DHCR7c.732G>A (p.Gly244=)
c.558G>A (p.Gly186=)
c.783G>A (p.Gly261=)
c.768G>A (p.Gly256=)
n.772G>A
c.147G>A (p.Gly49=)
c.636G>A (p.Gly212=)
c.99G>A (p.Gly33=)
n.227G>A
c.88G>A
11g.71438979C>ACA381703388DHCR7c.731G>T (p.Gly244Val)
c.557G>T (p.Gly186Val)
c.782G>T (p.Gly261Val)
c.767G>T (p.Gly256Val)
n.771G>T
c.146G>T (p.Gly49Val)
c.635G>T (p.Gly212Val)
c.98G>T (p.Gly33Val)
n.226G>T
c.87G>T
11g.71438979C>GCA381703390DHCR7c.731G>C (p.Gly244Ala)
c.557G>C (p.Gly186Ala)
c.782G>C (p.Gly261Ala)
c.767G>C (p.Gly256Ala)
n.771G>C
c.146G>C (p.Gly49Ala)
c.635G>C (p.Gly212Ala)
c.98G>C (p.Gly33Ala)
n.226G>C
c.87G>C
11g.71438979C>TCA381703389DHCR7c.731G>A (p.Gly244Glu)
c.557G>A (p.Gly186Glu)
c.782G>A (p.Gly261Glu)
c.767G>A (p.Gly256Glu)
n.771G>A
c.146G>A (p.Gly49Glu)
c.635G>A (p.Gly212Glu)
c.98G>A (p.Gly33Glu)
n.226G>A
c.87G>A
11g.71438980C>ACA381703391DHCR7c.730G>T (p.Gly244Trp)
c.556G>T (p.Gly186Trp)
c.781G>T (p.Gly261Trp)
c.766G>T (p.Gly256Trp)
n.770G>T
c.145G>T (p.Gly49Trp)
c.634G>T (p.Gly212Trp)
c.97G>T (p.Gly33Trp)
n.225G>T
c.86G>T
11g.71438980C=CA1981488585DHCR7c.730G= (p.Gly244=)
c.556G= (p.Gly186=)
c.781G= (p.Gly261=)
c.766G= (p.Gly256=)
n.770G=
c.145G= (p.Gly49=)
c.634G= (p.Gly212=)
c.97G= (p.Gly33=)
n.225G=
c.86G=
11g.71438980C>GCA381703392DHCR7c.730G>C (p.Gly244Arg)
c.556G>C (p.Gly186Arg)
c.781G>C (p.Gly261Arg)
c.766G>C (p.Gly256Arg)
n.770G>C
c.145G>C (p.Gly49Arg)
c.634G>C (p.Gly212Arg)
c.97G>C (p.Gly33Arg)
n.225G>C
c.86G>C
11g.71438980C>TCA253939DHCR7c.730G>A (p.Gly244Arg)
c.556G>A (p.Gly186Arg)
c.781G>A (p.Gly261Arg)
c.766G>A (p.Gly256Arg)
n.770G>A
c.145G>A (p.Gly49Arg)
c.634G>A (p.Gly212Arg)
c.97G>A (p.Gly33Arg)
n.225G>A
c.86G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438981G>ACA6162478DHCR7c.729C>T (p.Pro243=)
c.555C>T (p.Pro185=)
c.780C>T (p.Pro260=)
c.765C>T (p.Pro255=)
n.769C>T
c.144C>T (p.Pro48=)
c.633C>T (p.Pro211=)
c.96C>T (p.Pro32=)
n.224C>T
c.85C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438981G>CCA475569811DHCR7c.729C>G (p.Pro243=)
c.555C>G (p.Pro185=)
c.780C>G (p.Pro260=)
c.765C>G (p.Pro255=)
n.769C>G
c.144C>G (p.Pro48=)
c.633C>G (p.Pro211=)
c.96C>G (p.Pro32=)
n.224C>G
c.85C>G
11g.71438981G=CA1981488586DHCR7c.729C= (p.Pro243=)
c.555C= (p.Pro185=)
c.780C= (p.Pro260=)
c.765C= (p.Pro255=)
n.769C=
c.144C= (p.Pro48=)
c.633C= (p.Pro211=)
c.96C= (p.Pro32=)
n.224C=
c.85C=
11g.71438981G>TCA475569808DHCR7c.729C>A (p.Pro243=)
c.555C>A (p.Pro185=)
c.780C>A (p.Pro260=)
c.765C>A (p.Pro255=)
n.769C>A
c.144C>A (p.Pro48=)
c.633C>A (p.Pro211=)
c.96C>A (p.Pro32=)
n.224C>A
c.85C>A
11g.71438982G>ACA381703393DHCR7c.728C>T (p.Pro243Leu)
c.554C>T (p.Pro185Leu)
c.779C>T (p.Pro260Leu)
c.764C>T (p.Pro255Leu)
n.768C>T
c.143C>T (p.Pro48Leu)
c.632C>T (p.Pro211Leu)
c.95C>T (p.Pro32Leu)
n.223C>T
c.84C>T
11g.71438982G>CCA6162479DHCR7c.728C>G (p.Pro243Arg)
c.554C>G (p.Pro185Arg)
c.779C>G (p.Pro260Arg)
c.764C>G (p.Pro255Arg)
n.768C>G
c.143C>G (p.Pro48Arg)
c.632C>G (p.Pro211Arg)
c.95C>G (p.Pro32Arg)
n.223C>G
c.84C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438982G=CA1981488587DHCR7c.728C= (p.Pro243=)
c.554C= (p.Pro185=)
c.779C= (p.Pro260=)
c.764C= (p.Pro255=)
n.768C=
c.143C= (p.Pro48=)
c.632C= (p.Pro211=)
c.95C= (p.Pro32=)
n.223C=
c.84C=
11g.71438982G>TCA381703394DHCR7c.728C>A (p.Pro243His)
c.554C>A (p.Pro185His)
c.779C>A (p.Pro260His)
c.764C>A (p.Pro255His)
n.768C>A
c.143C>A (p.Pro48His)
c.632C>A (p.Pro211His)
c.95C>A (p.Pro32His)
n.223C>A
c.84C>A
11g.71438983G>ACA381703395DHCR7c.727C>T (p.Pro243Ser)
c.553C>T (p.Pro185Ser)
c.778C>T (p.Pro260Ser)
c.763C>T (p.Pro255Ser)
n.767C>T
c.142C>T (p.Pro48Ser)
c.631C>T (p.Pro211Ser)
c.94C>T (p.Pro32Ser)
n.222C>T
c.83C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.71438983G>CCA381703396DHCR7c.727C>G (p.Pro243Ala)
c.553C>G (p.Pro185Ala)
c.778C>G (p.Pro260Ala)
c.763C>G (p.Pro255Ala)
n.767C>G
c.142C>G (p.Pro48Ala)
c.631C>G (p.Pro211Ala)
c.94C>G (p.Pro32Ala)
n.222C>G
c.83C>G
 gnomAD v4
11g.71438983G=CA1981488588DHCR7c.727C= (p.Pro243=)
c.553C= (p.Pro185=)
c.778C= (p.Pro260=)
c.763C= (p.Pro255=)
n.767C=
c.142C= (p.Pro48=)
c.631C= (p.Pro211=)
c.94C= (p.Pro32=)
n.222C=
c.83C=
11g.71438983G>TCA381703397DHCR7c.727C>A (p.Pro243Thr)
c.553C>A (p.Pro185Thr)
c.778C>A (p.Pro260Thr)
c.763C>A (p.Pro255Thr)
n.767C>A
c.142C>A (p.Pro48Thr)
c.631C>A (p.Pro211Thr)
c.94C>A (p.Pro32Thr)
n.222C>A
c.83C>A
11g.71438984G>ACA475569829DHCR7c.726C>T (p.Arg242=)
c.552C>T (p.Arg184=)
c.777C>T (p.Arg259=)
c.762C>T (p.Arg254=)
n.766C>T
c.141C>T (p.Arg47=)
c.630C>T (p.Arg210=)
c.93C>T (p.Arg31=)
n.221C>T
c.82C>T
 ClinVar dbSNP gnomAD v4
11g.71438984G>CCA475569831DHCR7c.726C>G (p.Arg242=)
c.552C>G (p.Arg184=)
c.777C>G (p.Arg259=)
c.762C>G (p.Arg254=)
n.766C>G
c.141C>G (p.Arg47=)
c.630C>G (p.Arg210=)
c.93C>G (p.Arg31=)
n.221C>G
c.82C>G
11g.71438984G=CA1981488589DHCR7c.726C= (p.Arg242=)
c.552C= (p.Arg184=)
c.777C= (p.Arg259=)
c.762C= (p.Arg254=)
n.766C=
c.141C= (p.Arg47=)
c.630C= (p.Arg210=)
c.93C= (p.Arg31=)
n.221C=
c.82C=
11g.71438984G>TCA475569834DHCR7c.726C>A (p.Arg242=)
c.552C>A (p.Arg184=)
c.777C>A (p.Arg259=)
c.762C>A (p.Arg254=)
n.766C>A
c.141C>A (p.Arg47=)
c.630C>A (p.Arg210=)
c.93C>A (p.Arg31=)
n.221C>A
c.82C>A
11g.71438986_71439002delCA2614859498DHCR7c.710_726del (p.Leu237ProfsTer?)
c.536_552del (p.Leu179ProfsTer?)
c.761_777del (p.Leu254ProfsTer?)
c.746_762del (p.Leu249ProfsTer?)
n.750_766del
c.125_141del (p.Leu42ProfsTer?)
c.614_630del (p.Leu205ProfsTer?)
c.77_93del (p.Leu26ProfsTer?)
n.205_221del
c.66_82del
 gnomAD v4
11g.71438985C>ACA381703398DHCR7c.725G>T (p.Arg242Leu)
c.551G>T (p.Arg184Leu)
c.776G>T (p.Arg259Leu)
c.761G>T (p.Arg254Leu)
n.765G>T
c.140G>T (p.Arg47Leu)
c.629G>T (p.Arg210Leu)
c.92G>T (p.Arg31Leu)
n.220G>T
c.81G>T
 ClinVar COSMIC COSMIC
11g.71438985C=CA1981488590DHCR7c.725G= (p.Arg242=)
c.551G= (p.Arg184=)
c.776G= (p.Arg259=)
c.761G= (p.Arg254=)
n.765G=
c.140G= (p.Arg47=)
c.629G= (p.Arg210=)
c.92G= (p.Arg31=)
n.220G=
c.81G=
11g.71438985C>GCA381703399DHCR7c.725G>C (p.Arg242Pro)
c.551G>C (p.Arg184Pro)
c.776G>C (p.Arg259Pro)
c.761G>C (p.Arg254Pro)
n.765G>C
c.140G>C (p.Arg47Pro)
c.629G>C (p.Arg210Pro)
c.92G>C (p.Arg31Pro)
n.220G>C
c.81G>C
 ClinVar
11g.71438985C>TCA341830DHCR7c.725G>A (p.Arg242His)
c.551G>A (p.Arg184His)
c.776G>A (p.Arg259His)
c.761G>A (p.Arg254His)
n.765G>A
c.140G>A (p.Arg47His)
c.629G>A (p.Arg210His)
c.92G>A (p.Arg31His)
n.220G>A
c.81G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438986G>ACA341827DHCR7c.724C>T (p.Arg242Cys)
c.550C>T (p.Arg184Cys)
c.775C>T (p.Arg259Cys)
c.760C>T (p.Arg254Cys)
n.764C>T
c.139C>T (p.Arg47Cys)
c.628C>T (p.Arg210Cys)
c.91C>T (p.Arg31Cys)
n.219C>T
c.80C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.71438986G>CCA381703401DHCR7c.724C>G (p.Arg242Gly)
c.550C>G (p.Arg184Gly)
c.775C>G (p.Arg259Gly)
c.760C>G (p.Arg254Gly)
n.764C>G
c.139C>G (p.Arg47Gly)
c.628C>G (p.Arg210Gly)
c.91C>G (p.Arg31Gly)
n.219C>G
c.80C>G
11g.71438986G=CA1981488591DHCR7c.724C= (p.Arg242=)
c.550C= (p.Arg184=)
c.775C= (p.Arg259=)
c.760C= (p.Arg254=)
n.764C=
c.139C= (p.Arg47=)
c.628C= (p.Arg210=)
c.91C= (p.Arg31=)
n.219C=
c.80C=
11g.71438986G>TCA381703400DHCR7c.724C>A (p.Arg242Ser)
c.550C>A (p.Arg184Ser)
c.775C>A (p.Arg259Ser)
c.760C>A (p.Arg254Ser)
n.764C>A
c.139C>A (p.Arg47Ser)
c.628C>A (p.Arg210Ser)
c.91C>A (p.Arg31Ser)
n.219C>A
c.80C>A
11g.71438987C>ACA6162480DHCR7c.723G>T (p.Gly241=)
c.549G>T (p.Gly183=)
c.774G>T (p.Gly258=)
c.759G>T (p.Gly253=)
n.763G>T
c.138G>T (p.Gly46=)
c.627G>T (p.Gly209=)
c.90G>T (p.Gly30=)
n.218G>T
c.79G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.71438987C=CA1981488592DHCR7c.723G= (p.Gly241=)
c.549G= (p.Gly183=)
c.774G= (p.Gly258=)
c.759G= (p.Gly253=)
n.763G=
c.138G= (p.Gly46=)
c.627G= (p.Gly209=)
c.90G= (p.Gly30=)
n.218G=
c.79G=
11g.71438987C>GCA475569852DHCR7c.723G>C (p.Gly241=)
c.549G>C (p.Gly183=)
c.774G>C (p.Gly258=)
c.759G>C (p.Gly253=)
n.763G>C
c.138G>C (p.Gly46=)
c.627G>C (p.Gly209=)
c.90G>C (p.Gly30=)
n.218G>C
c.79G>C
11g.71438987C>TCA475569856DHCR7c.723G>A (p.Gly241=)
c.549G>A (p.Gly183=)
c.774G>A (p.Gly258=)
c.759G>A (p.Gly253=)
n.763G>A
c.138G>A (p.Gly46=)
c.627G>A (p.Gly209=)
c.90G>A (p.Gly30=)
n.218G>A
c.79G>A
11g.71438988C>ACA381703402DHCR7c.722G>T (p.Gly241Val)
c.548G>T (p.Gly183Val)
c.773G>T (p.Gly258Val)
c.758G>T (p.Gly253Val)
n.762G>T
c.137G>T (p.Gly46Val)
c.626G>T (p.Gly209Val)
c.89G>T (p.Gly30Val)
n.217G>T
c.78G>T
11g.71438988C>GCA381703403DHCR7c.722G>C (p.Gly241Ala)
c.548G>C (p.Gly183Ala)
c.773G>C (p.Gly258Ala)
c.758G>C (p.Gly253Ala)
n.762G>C
c.137G>C (p.Gly46Ala)
c.626G>C (p.Gly209Ala)
c.89G>C (p.Gly30Ala)
n.217G>C
c.78G>C
11g.71438988C>TCA381703404DHCR7c.722G>A (p.Gly241Glu)
c.548G>A (p.Gly183Glu)
c.773G>A (p.Gly258Glu)
c.758G>A (p.Gly253Glu)
n.762G>A
c.137G>A (p.Gly46Glu)
c.626G>A (p.Gly209Glu)
c.89G>A (p.Gly30Glu)
n.217G>A
c.78G>A

Number of alleles fetched