Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71438883A>C | CA381703193 | DHCR7 | c.827T>G (p.Leu276Arg) c.653T>G (p.Leu218Arg) c.878T>G (p.Leu293Arg) c.863T>G (p.Leu288Arg) n.867T>G c.242T>G (p.Leu81Arg) c.731T>G (p.Leu244Arg) c.194T>G (p.Leu65Arg) c.77T>G (p.Leu26Arg) n.322T>G c.183T>G | |
11 | g.71438883A>G | CA381703194 | DHCR7 | c.827T>C (p.Leu276Pro) c.653T>C (p.Leu218Pro) c.878T>C (p.Leu293Pro) c.863T>C (p.Leu288Pro) n.867T>C c.242T>C (p.Leu81Pro) c.731T>C (p.Leu244Pro) c.194T>C (p.Leu65Pro) c.77T>C (p.Leu26Pro) n.322T>C c.183T>C | |
11 | g.71438883A>T | CA381703195 | DHCR7 | c.827T>A (p.Leu276Gln) c.653T>A (p.Leu218Gln) c.878T>A (p.Leu293Gln) c.863T>A (p.Leu288Gln) n.867T>A c.242T>A (p.Leu81Gln) c.731T>A (p.Leu244Gln) c.194T>A (p.Leu65Gln) c.77T>A (p.Leu26Gln) n.322T>A c.183T>A | |
11 | g.71438884G>A | CA475569176 | DHCR7 | c.826C>T (p.Leu276=) c.652C>T (p.Leu218=) c.877C>T (p.Leu293=) c.862C>T (p.Leu288=) n.866C>T c.241C>T (p.Leu81=) c.730C>T (p.Leu244=) c.193C>T (p.Leu65=) c.76C>T (p.Leu26=) n.321C>T c.182C>T | dbSNP gnomAD v4 |
11 | g.71438884G>C | CA381703196 | DHCR7 | c.826C>G (p.Leu276Val) c.652C>G (p.Leu218Val) c.877C>G (p.Leu293Val) c.862C>G (p.Leu288Val) n.866C>G c.241C>G (p.Leu81Val) c.730C>G (p.Leu244Val) c.193C>G (p.Leu65Val) c.76C>G (p.Leu26Val) n.321C>G c.182C>G | |
11 | g.71438884G= | CA1981488537 | DHCR7 | c.826C= (p.Leu276=) c.652C= (p.Leu218=) c.877C= (p.Leu293=) c.862C= (p.Leu288=) n.866C= c.241C= (p.Leu81=) c.730C= (p.Leu244=) c.193C= (p.Leu65=) c.76C= (p.Leu26=) n.321C= c.182C= | |
11 | g.71438884G>T | CA381703197 | DHCR7 | c.826C>A (p.Leu276Met) c.652C>A (p.Leu218Met) c.877C>A (p.Leu293Met) c.862C>A (p.Leu288Met) n.866C>A c.241C>A (p.Leu81Met) c.730C>A (p.Leu244Met) c.193C>A (p.Leu65Met) c.76C>A (p.Leu26Met) n.321C>A c.182C>A | |
11 | g.71438884_71438890delinsGGACGTT | CA1981488536 | DHCR7 | c.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 | |
11 | g.71438885G>A | CA475569178 | DHCR7 | c.825C>T (p.Val275=) c.651C>T (p.Val217=) c.876C>T (p.Val292=) c.861C>T (p.Val287=) n.865C>T c.240C>T (p.Val80=) c.729C>T (p.Val243=) c.192C>T (p.Val64=) c.75C>T (p.Val25=) n.320C>T c.181C>T | ClinVar COSMIC COSMIC |
11 | g.71438885G>C | CA475569184 | DHCR7 | c.825C>G (p.Val275=) c.651C>G (p.Val217=) c.876C>G (p.Val292=) c.861C>G (p.Val287=) n.865C>G c.240C>G (p.Val80=) c.729C>G (p.Val243=) c.192C>G (p.Val64=) c.75C>G (p.Val25=) n.320C>G c.181C>G | |
11 | g.71438885G>T | CA475569187 | DHCR7 | c.825C>A (p.Val275=) c.651C>A (p.Val217=) c.876C>A (p.Val292=) c.861C>A (p.Val287=) n.865C>A c.240C>A (p.Val80=) c.729C>A (p.Val243=) c.192C>A (p.Val64=) c.75C>A (p.Val25=) n.320C>A c.181C>A | |
11 | g.71438888_71438893del | CA6162448 | DHCR7 | c.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 |
11 | g.71438886A= | CA1981488538 | DHCR7 | c.824T= (p.Val275=) c.650T= (p.Val217=) c.875T= (p.Val292=) c.860T= (p.Val287=) n.864T= c.239T= (p.Val80=) c.728T= (p.Val243=) c.191T= (p.Val64=) c.74T= (p.Val25=) n.319T= c.180T= | |
11 | g.71438886A>C | CA381703200 | DHCR7 | c.824T>G (p.Val275Gly) c.650T>G (p.Val217Gly) c.875T>G (p.Val292Gly) c.860T>G (p.Val287Gly) n.864T>G c.239T>G (p.Val80Gly) c.728T>G (p.Val243Gly) c.191T>G (p.Val64Gly) c.74T>G (p.Val25Gly) n.319T>G c.180T>G | |
11 | g.71438886A>G | CA381703198 | DHCR7 | c.824T>C (p.Val275Ala) c.650T>C (p.Val217Ala) c.875T>C (p.Val292Ala) c.860T>C (p.Val287Ala) n.864T>C c.239T>C (p.Val80Ala) c.728T>C (p.Val243Ala) c.191T>C (p.Val64Ala) c.74T>C (p.Val25Ala) n.319T>C c.180T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71438886A>T | CA381703199 | DHCR7 | c.824T>A (p.Val275Asp) c.650T>A (p.Val217Asp) c.875T>A (p.Val292Asp) c.860T>A (p.Val287Asp) n.864T>A c.239T>A (p.Val80Asp) c.728T>A (p.Val243Asp) c.191T>A (p.Val64Asp) c.74T>A (p.Val25Asp) n.319T>A c.180T>A | |
11 | g.71438887C>A | CA381703201 | DHCR7 | c.823G>T (p.Val275Phe) c.649G>T (p.Val217Phe) c.874G>T (p.Val292Phe) c.859G>T (p.Val287Phe) n.863G>T c.238G>T (p.Val80Phe) c.727G>T (p.Val243Phe) c.190G>T (p.Val64Phe) c.73G>T (p.Val25Phe) n.318G>T c.179G>T | |
11 | g.71438887C= | CA1981488539 | DHCR7 | c.823G= (p.Val275=) c.649G= (p.Val217=) c.874G= (p.Val292=) c.859G= (p.Val287=) n.863G= c.238G= (p.Val80=) c.727G= (p.Val243=) c.190G= (p.Val64=) c.73G= (p.Val25=) n.318G= c.179G= | |
11 | g.71438887C>G | CA381703202 | DHCR7 | c.823G>C (p.Val275Leu) c.649G>C (p.Val217Leu) c.874G>C (p.Val292Leu) c.859G>C (p.Val287Leu) n.863G>C c.238G>C (p.Val80Leu) c.727G>C (p.Val243Leu) c.190G>C (p.Val64Leu) c.73G>C (p.Val25Leu) n.318G>C c.179G>C | |
11 | g.71438887C>T | CA6162449 | DHCR7 | c.823G>A (p.Val275Ile) c.649G>A (p.Val217Ile) c.874G>A (p.Val292Ile) c.859G>A (p.Val287Ile) n.863G>A c.238G>A (p.Val80Ile) c.727G>A (p.Val243Ile) c.190G>A (p.Val64Ile) c.73G>A (p.Val25Ile) n.318G>A c.179G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.71438888G>A | CA6162450 | DHCR7 | c.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 |
11 | g.71438888G>C | CA381703203 | DHCR7 | c.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 | |
11 | g.71438888G= | CA1981488540 | DHCR7 | c.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= | |
11 | g.71438888G>T | CA6162451 | DHCR7 | c.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 |
11 | g.71438889T>A | CA381703204 | DHCR7 | c.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 | |
11 | g.71438889T>C | CA381703205 | DHCR7 | c.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 |
11 | g.71438889T>G | CA6162452 | DHCR7 | c.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 |
11 | g.71438889T= | CA1981488541 | DHCR7 | c.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= | |
11 | g.71438890T>A | CA381703208 | DHCR7 | c.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 | |
11 | g.71438890T>C | CA381703207 | DHCR7 | c.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 | |
11 | g.71438890T>G | CA381703206 | DHCR7 | c.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 | |
11 | g.71438891G>A | CA475569216 | DHCR7 | c.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 | |
11 | g.71438891G>C | CA475569218 | DHCR7 | c.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 |
11 | g.71438891G>T | CA475569219 | DHCR7 | c.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 | |
11 | g.71438892A>C | CA381703209 | DHCR7 | c.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 |
11 | g.71438892A>G | CA381703210 | DHCR7 | c.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 | |
11 | g.71438892A>T | CA381703211 | DHCR7 | c.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 | |
11 | g.71438893C>A | CA381703212 | DHCR7 | c.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 | |
11 | g.71438893C>G | CA381703213 | DHCR7 | c.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 | |
11 | g.71438893C>T | CA381703214 | DHCR7 | c.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 |
11 | g.71438894C>A | CA475569232 | DHCR7 | c.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 |
11 | g.71438894C= | CA1981488542 | DHCR7 | c.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= | |
11 | g.71438894C>G | CA475569234 | DHCR7 | c.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 | |
11 | g.71438894C>T | CA6162453 | DHCR7 | c.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 |
11 | g.71438895A>C | CA381703215 | DHCR7 | c.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 |
11 | g.71438895A>G | CA381703216 | DHCR7 | c.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 | |
11 | g.71438895A>T | CA381703217 | DHCR7 | c.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 | |
11 | g.71438896G>A | CA6162454 | DHCR7 | c.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 |
11 | g.71438896G>C | CA381703218 | DHCR7 | c.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 |
11 | g.71438896G= | CA1981488543 | DHCR7 | c.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= | |
11 | g.71438896G>T | CA381703219 | DHCR7 | c.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 | |
11 | g.71438897G>A | CA475569263 | DHCR7 | c.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 |
11 | g.71438897G>C | CA475569266 | DHCR7 | c.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 | |
11 | g.71438897G>T | CA475569269 | DHCR7 | c.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 | |
11 | g.71438898A= | CA1981488544 | DHCR7 | c.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= | |
11 | g.71438898A>C | CA381703221 | DHCR7 | c.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 | |
11 | g.71438898A>G | CA381703222 | DHCR7 | c.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 |
11 | g.71438898A>T | CA381703220 | DHCR7 | c.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 | |
11 | g.71438899C>A | CA381703223 | DHCR7 | c.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 | |
11 | g.71438899C>G | CA381703224 | DHCR7 | c.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 | |
11 | g.71438899C>T | CA381703225 | DHCR7 | c.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 |
11 | g.71438900C>A | CA381703226 | DHCR7 | c.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 | |
11 | g.71438900C>G | CA381703227 | DHCR7 | c.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 | |
11 | g.71438900C>T | CA381703228 | DHCR7 | c.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 |
11 | g.71438901A= | CA1981488545 | DHCR7 | c.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= | |
11 | g.71438901A>C | CA381703231 | DHCR7 | c.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 | |
11 | g.71438901A>G | CA381703229 | DHCR7 | c.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 |
11 | g.71438901A>T | CA381703230 | DHCR7 | c.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 | |
11 | g.71438902T>A | CA381703232 | DHCR7 | c.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 | |
11 | g.71438902T>C | CA381703233 | DHCR7 | c.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 |
11 | g.71438902T>G | CA381703234 | DHCR7 | c.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 | |
11 | g.71438902T= | CA1981488546 | DHCR7 | c.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= | |
11 | g.71438903G>A | CA224327753 | DHCR7 | c.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 |
11 | g.71438903G>C | CA475569310 | DHCR7 | c.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 |
11 | g.71438903G= | CA1981488547 | DHCR7 | c.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= | |
11 | g.71438903G>T | CA475569311 | DHCR7 | c.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 |
11 | g.71438904G>A | CA381703235 | DHCR7 | c.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 | |
11 | g.71438904G>C | CA381703236 | DHCR7 | c.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 | |
11 | g.71438904G>T | CA381703237 | DHCR7 | c.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 |
11 | g.71438905C>A | CA381703238 | DHCR7 | c.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 | |
11 | g.71438905C>G | CA381703240 | DHCR7 | c.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 | |
11 | g.71438905C>T | CA381703239 | DHCR7 | c.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 |
11 | g.71438905_71438906delinsCA | CA1981488548 | DHCR7 | c.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 | |
11 | g.71438906del | CA16041553 | DHCR7 | c.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 |
11 | g.71438906A= | CA1981488550 | DHCR7 | c.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= | |
11 | g.71438906A>C | CA6162455 | DHCR7 | c.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 |
11 | g.71438906A>G | CA475569348 | DHCR7 | c.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 |
11 | g.71438906A>T | CA381703241 | DHCR7 | c.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 | |
11 | g.71438906_71438907del | CA912973041 | DHCR7 | c.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 | |
11 | g.71438906_71438907delinsAT | CA1981488549 | DHCR7 | c.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 | |
11 | g.71438907T>A | CA381703242 | DHCR7 | c.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 | |
11 | g.71438907T>C | CA6162456 | DHCR7 | c.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 |
11 | g.71438907T>G | CA381703243 | DHCR7 | c.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 | |
11 | g.71438907T= | CA1981488551 | DHCR7 | c.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= | |
11 | g.71438908del | CA658823157 | DHCR7 | c.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 |
11 | g.71438908T>A | CA381703244 | DHCR7 | c.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 | |
11 | g.71438908T>C | CA381703245 | DHCR7 | c.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 | |
11 | g.71438908T>G | CA381703246 | DHCR7 | c.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 |
11 | g.71438909G>A | CA475569353 | DHCR7 | c.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 | |
11 | g.71438909G>C | CA475569355 | DHCR7 | c.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 | |
11 | g.71438909G>T | CA475569357 | DHCR7 | c.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 | |
11 | g.71438910G>A | CA381703247 | DHCR7 | c.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 |
11 | g.71438910G>C | CA381703248 | DHCR7 | c.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 | |
11 | g.71438910G= | CA1981488552 | DHCR7 | c.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= | |
11 | g.71438910G>T | CA381703249 | DHCR7 | c.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 | |
11 | g.71438911T>A | CA381703250 | DHCR7 | c.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 | |
11 | g.71438911T>C | CA381703252 | DHCR7 | c.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 | |
11 | g.71438911T>G | CA381703251 | DHCR7 | c.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 | |
11 | g.71438912C>A | CA475569371 | DHCR7 | c.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 | |
11 | g.71438912C>G | CA475569374 | DHCR7 | c.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 | |
11 | g.71438912C>T | CA475569378 | DHCR7 | c.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 | |
11 | g.71438913A>C | CA381703253 | DHCR7 | c.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 | |
11 | g.71438913A>G | CA381703254 | DHCR7 | c.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 | |
11 | g.71438913A>T | CA381703255 | DHCR7 | c.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 | |
11 | g.71438914C>A | CA381703256 | DHCR7 | c.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 | |
11 | g.71438914C>G | CA381703257 | DHCR7 | c.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 | |
11 | g.71438914C>T | CA381703258 | DHCR7 | c.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 | |
11 | g.71438915A= | CA1981488553 | DHCR7 | c.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= | |
11 | g.71438915A>C | CA381703259 | DHCR7 | c.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 | |
11 | g.71438915A>G | CA475569396 | DHCR7 | c.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 |
11 | g.71438915A>T | CA381703260 | DHCR7 | c.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 | |
11 | g.71438916T>A | CA381703261 | DHCR7 | c.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 | |
11 | g.71438916T>C | CA224327772 | DHCR7 | c.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 |
11 | g.71438916T>G | CA381703262 | DHCR7 | c.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 | |
11 | g.71438916T= | CA1981488554 | DHCR7 | c.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= | |
11 | g.71438917G>A | CA381703263 | DHCR7 | c.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 | |
11 | g.71438917G>C | CA381703264 | DHCR7 | c.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 |
11 | g.71438917G>T | CA381703265 | DHCR7 | c.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 | |
11 | g.71438918G>A | CA475569419 | DHCR7 | c.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 | |
11 | g.71438918G>C | CA381703266 | DHCR7 | c.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 | |
11 | g.71438918G>T | CA381703267 | DHCR7 | c.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 | |
11 | g.71438919C>A | CA381703268 | DHCR7 | c.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 | |
11 | g.71438919C>G | CA381703269 | DHCR7 | c.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 | |
11 | g.71438919C>T | CA381703270 | DHCR7 | c.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 |
11 | g.71438920T>A | CA381703271 | DHCR7 | c.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 | |
11 | g.71438920T>C | CA6162457 | DHCR7 | c.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 |
11 | g.71438920T>G | CA381703272 | DHCR7 | c.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 | |
11 | g.71438920T= | CA1981488555 | DHCR7 | c.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= | |
11 | g.71438921G>A | CA6162458 | DHCR7 | c.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 |
11 | g.71438921G>C | CA381703273 | DHCR7 | c.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 | |
11 | g.71438921G= | CA1981488556 | DHCR7 | c.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= | |
11 | g.71438921G>T | CA381703274 | DHCR7 | c.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 | |
11 | g.71438922T>A | CA381703275 | DHCR7 | c.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 | |
11 | g.71438922T>C | CA381703276 | DHCR7 | c.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 | |
11 | g.71438922T>G | CA381703277 | DHCR7 | c.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 | |
11 | g.71438923G>A | CA381703280 | DHCR7 | c.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 | |
11 | g.71438923G>C | CA381703279 | DHCR7 | c.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 | |
11 | g.71438923G>T | CA381703278 | DHCR7 | c.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 | |
11 | g.71438924G>A | CA475569444 | DHCR7 | c.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 |
11 | g.71438924G>C | CA475569447 | DHCR7 | c.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 |
11 | g.71438924G= | CA1981488557 | DHCR7 | c.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= | |
11 | g.71438924G>T | CA475569449 | DHCR7 | c.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 |
11 | g.71438925A>C | CA381703282 | DHCR7 | c.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 | |
11 | g.71438925A>G | CA381703281 | DHCR7 | c.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 | |
11 | g.71438925A>T | CA381703283 | DHCR7 | c.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 | |
11 | g.71438926G>A | CA381703284 | DHCR7 | c.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 |
11 | g.71438926G>C | CA6162459 | DHCR7 | c.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 |
11 | g.71438926G= | CA1981488558 | DHCR7 | c.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= | |
11 | g.71438926G>T | CA381703285 | DHCR7 | c.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 | |
11 | g.71438927C>A | CA381703286 | DHCR7 | c.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 | |
11 | g.71438927C= | CA1981488559 | DHCR7 | c.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= | |
11 | g.71438927C>G | CA381703287 | DHCR7 | c.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 | |
11 | g.71438927C>T | CA6162460 | DHCR7 | c.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 |
11 | g.71438928T>A | CA381703288 | DHCR7 | c.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 | |
11 | g.71438928T>C | CA381703289 | DHCR7 | c.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 |
11 | g.71438928T>G | CA381703290 | DHCR7 | c.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 |
11 | g.71438928T= | CA1981488560 | DHCR7 | c.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= | |
11 | g.71438929C>A | CA381703291 | DHCR7 | c.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 | |
11 | g.71438929C= | CA1981488561 | DHCR7 | c.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= | |
11 | g.71438929C>G | CA381703292 | DHCR7 | c.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 | |
11 | g.71438929C>T | CA6162461 | DHCR7 | c.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 |
11 | g.71438930C>A | CA475569483 | DHCR7 | c.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 | |
11 | g.71438930C>G | CA475569484 | DHCR7 | c.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 | |
11 | g.71438930C>T | CA475569488 | DHCR7 | c.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 | |
11 | g.71438931C>A | CA381703294 | DHCR7 | c.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 | |
11 | g.71438931C= | CA1981488562 | DHCR7 | c.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= | |
11 | g.71438931C>G | CA381703293 | DHCR7 | c.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 | |
11 | g.71438931C>T | CA6162462 | DHCR7 | c.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 |
11 | g.71438932G>A | CA381703295 | DHCR7 | c.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 |
11 | g.71438932G>C | CA6162463 | DHCR7 | c.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 |
11 | g.71438932G= | CA1981488563 | DHCR7 | c.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= | |
11 | g.71438932G>T | CA224327813 | DHCR7 | c.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 |
11 | g.71438933C>A | CA381703296 | DHCR7 | c.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 |
11 | g.71438933C>G | CA381703297 | DHCR7 | c.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 | |
11 | g.71438933C>T | CA475569504 | DHCR7 | c.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 | |
11 | g.71438934T>A | CA381703298 | DHCR7 | c.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 | |
11 | g.71438934T>C | CA381703299 | DHCR7 | c.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 | |
11 | g.71438934T>G | CA381703300 | DHCR7 | c.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 | |
11 | g.71438935G>A | CA381703301 | DHCR7 | c.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 |
11 | g.71438935G>C | CA381703302 | DHCR7 | c.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 | |
11 | g.71438935G>T | CA381703303 | DHCR7 | c.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 | |
11 | g.71438936C>A | CA381703304 | DHCR7 | c.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 | |
11 | g.71438936C>G | CA381703305 | DHCR7 | c.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 | |
11 | g.71438936C>T | CA475569521 | DHCR7 | c.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 |
11 | g.71438937T>A | CA381703308 | DHCR7 | c.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 | |
11 | g.71438937T>C | CA381703307 | DHCR7 | c.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 | |
11 | g.71438937T>G | CA381703306 | DHCR7 | c.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 | |
11 | g.71438938T>A | CA381703311 | DHCR7 | c.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 | |
11 | g.71438938T>C | CA381703309 | DHCR7 | c.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 | |
11 | g.71438938T>G | CA381703310 | DHCR7 | c.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 | |
11 | g.71438939C>A | CA475569536 | DHCR7 | c.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 | |
11 | g.71438939C= | CA1981488564 | DHCR7 | c.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= | |
11 | g.71438939C>G | CA475569539 | DHCR7 | c.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 | |
11 | g.71438939C>T | CA6162464 | DHCR7 | c.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 |
11 | g.71438940G>A | CA6162465 | DHCR7 | c.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 |
11 | g.71438940G>C | CA381703312 | DHCR7 | c.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 |
11 | g.71438940G= | CA1981488565 | DHCR7 | c.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= | |
11 | g.71438940G>T | CA381703313 | DHCR7 | c.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 | |
11 | g.71438941C>A | CA381703314 | DHCR7 | c.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 | |
11 | g.71438941C>G | CA381703315 | DHCR7 | c.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 | |
11 | g.71438941C>T | CA381703316 | DHCR7 | c.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 | |
11 | g.71438942T>A | CA475569554 | DHCR7 | c.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 | |
11 | g.71438942T>C | CA475569557 | DHCR7 | c.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 |
11 | g.71438942T>G | CA475569560 | DHCR7 | c.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 | |
11 | g.71438943G>A | CA381703317 | DHCR7 | c.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 | |
11 | g.71438943G>C | CA381703318 | DHCR7 | c.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 | |
11 | g.71438943G>T | CA381703319 | DHCR7 | c.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 | |
11 | g.71438944C>A | CA6162467 | DHCR7 | c.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 |
11 | g.71438944C= | CA1981488566 | DHCR7 | c.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= | |
11 | g.71438944C>G | CA381703320 | DHCR7 | c.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 | |
11 | g.71438944C>T | CA6162466 | DHCR7 | c.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 |
11 | g.71438945G>A | CA6162468 | DHCR7 | c.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 |
11 | g.71438945G>C | CA381703321 | DHCR7 | c.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 | |
11 | g.71438945G= | CA1981488567 | DHCR7 | c.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= | |
11 | g.71438945G>T | CA381703322 | DHCR7 | c.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 |
11 | g.71438946A>C | CA381703323 | DHCR7 | c.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 | |
11 | g.71438946A>G | CA381703324 | DHCR7 | c.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 | |
11 | g.71438946A>T | CA381703325 | DHCR7 | c.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 | |
11 | g.71438947A>C | CA381703326 | DHCR7 | c.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 | |
11 | g.71438947A>G | CA381703328 | DHCR7 | c.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 | |
11 | g.71438947A>T | CA381703327 | DHCR7 | c.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 | |
11 | g.71438948G>A | CA224327860 | DHCR7 | c.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 |
11 | g.71438948G>C | CA224327851 | DHCR7 | c.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 |
11 | g.71438948G= | CA1981488568 | DHCR7 | c.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= | |
11 | g.71438948G>T | CA475569599 | DHCR7 | c.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 | |
11 | g.71438948_71438949insA | CA2580084840 | DHCR7 | c.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 |
11 | g.71438949G>A | CA381703329 | DHCR7 | c.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 | |
11 | g.71438949G>C | CA381703330 | DHCR7 | c.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 | |
11 | g.71438949G>T | CA381703331 | DHCR7 | c.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 | |
11 | g.71438950A>C | CA381703333 | DHCR7 | c.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 | |
11 | g.71438950A>G | CA381703334 | DHCR7 | c.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 |
11 | g.71438950A>T | CA381703332 | DHCR7 | c.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 | |
11 | g.71438951C>A | CA475569622 | DHCR7 | c.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 | |
11 | g.71438951C>G | CA475569627 | DHCR7 | c.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 | |
11 | g.71438951C>T | CA475569625 | DHCR7 | c.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 | |
11 | g.71438952A>C | CA381703335 | DHCR7 | c.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 | |
11 | g.71438952A>G | CA381703337 | DHCR7 | c.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 | |
11 | g.71438952A>T | CA381703336 | DHCR7 | c.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 | |
11 | g.71438953G>A | CA475569637 | DHCR7 | c.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 |
11 | g.71438953G>C | CA381703338 | DHCR7 | c.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 | |
11 | g.71438953G>T | CA381703339 | DHCR7 | c.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 | |
11 | g.71438954G>A | CA6162469 | DHCR7 | c.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 |
11 | g.71438954G>C | CA381703340 | DHCR7 | c.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 |
11 | g.71438954G= | CA1981488569 | DHCR7 | c.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= | |
11 | g.71438954G>T | CA381703341 | DHCR7 | c.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 | |
11 | g.71438955T>A | CA381703342 | DHCR7 | c.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 |
11 | g.71438955T>C | CA381703343 | DHCR7 | c.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 |
11 | g.71438955T>G | CA381703344 | DHCR7 | c.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 | |
11 | g.71438955T= | CA1981488570 | DHCR7 | c.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= | |
11 | g.71438956T>A | CA381703345 | DHCR7 | c.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 | |
11 | g.71438956T>C | CA381703346 | DHCR7 | c.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 |
11 | g.71438956T>G | CA381703347 | DHCR7 | c.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 | |
11 | g.71438957G>A | CA475569658 | DHCR7 | c.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 |
11 | g.71438957G>C | CA381703348 | DHCR7 | c.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 |
11 | g.71438957G= | CA1981488571 | DHCR7 | c.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= | |
11 | g.71438957G>T | CA475569662 | DHCR7 | c.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 | |
11 | g.71438958A>C | CA381703349 | DHCR7 | c.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 | |
11 | g.71438958A>G | CA381703351 | DHCR7 | c.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 | |
11 | g.71438958A>T | CA381703350 | DHCR7 | c.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 | |
11 | g.71438959T>A | CA381703352 | DHCR7 | c.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 | |
11 | g.71438959T>C | CA6162470 | DHCR7 | c.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 |
11 | g.71438959T>G | CA381703353 | DHCR7 | c.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 | |
11 | g.71438959T= | CA1981488572 | DHCR7 | c.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= | |
11 | g.71438960G>A | CA475569682 | DHCR7 | c.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 |
11 | g.71438960G>C | CA475569679 | DHCR7 | c.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 |
11 | g.71438960G>T | CA475569677 | DHCR7 | c.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 | |
11 | g.71438961A= | CA1981488573 | DHCR7 | c.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= | |
11 | g.71438961A>C | CA381703354 | DHCR7 | c.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 | |
11 | g.71438961A>G | CA381703355 | DHCR7 | c.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 |
11 | g.71438961A>T | CA381703356 | DHCR7 | c.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 | |
11 | g.71438962G>A | CA381703357 | DHCR7 | c.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 | |
11 | g.71438962G>C | CA6162471 | DHCR7 | c.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 |
11 | g.71438962G= | CA1981488574 | DHCR7 | c.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= | |
11 | g.71438962G>T | CA381703358 | DHCR7 | c.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 | |
11 | g.71438964del | CA2739270677 | DHCR7 | c.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 |
11 | g.71438963G>A | CA475569694 | DHCR7 | c.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 | |
11 | g.71438963G>C | CA475569696 | DHCR7 | c.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 |
11 | g.71438963G>T | CA475569698 | DHCR7 | c.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 | |
11 | g.71438964G>A | CA381703360 | DHCR7 | c.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 |
11 | g.71438964G>C | CA381703361 | DHCR7 | c.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 | |
11 | g.71438964G= | CA1981488575 | DHCR7 | c.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= | |
11 | g.71438964G>T | CA381703359 | DHCR7 | c.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 | |
11 | g.71438965T>A | CA381703362 | DHCR7 | c.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 | |
11 | g.71438965T>C | CA381703363 | DHCR7 | c.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 | |
11 | g.71438965T>G | CA381703364 | DHCR7 | c.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 | |
11 | g.71438966C>A | CA253942 | DHCR7 | c.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 |
11 | g.71438966C= | CA1981488576 | DHCR7 | c.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= | |
11 | g.71438966C>G | CA381703365 | DHCR7 | c.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 |
11 | g.71438966C>T | CA381703366 | DHCR7 | c.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 |
11 | g.71438967C>A | CA381703369 | DHCR7 | c.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 |
11 | g.71438967C= | CA1981488577 | DHCR7 | c.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= | |
11 | g.71438967C>G | CA381703367 | DHCR7 | c.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 | |
11 | g.71438967C>T | CA381703368 | DHCR7 | c.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 | |
11 | g.71438968A= | CA1981488578 | DHCR7 | c.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= | |
11 | g.71438968A>C | CA381703370 | DHCR7 | c.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 | |
11 | g.71438968A>G | CA10606828 | DHCR7 | c.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 |
11 | g.71438968A>T | CA381703371 | DHCR7 | c.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 | |
11 | g.71438969G>A | CA6162473 | DHCR7 | c.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 |
11 | g.71438969G>C | CA6162472 | DHCR7 | c.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 |
11 | g.71438969G= | CA1981488579 | DHCR7 | c.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= | |
11 | g.71438969G>T | CA475569732 | DHCR7 | c.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 | |
11 | g.71438970G>A | CA10603223 | DHCR7 | c.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 |
11 | g.71438970G>C | CA381703373 | DHCR7 | c.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 | |
11 | g.71438970G= | CA1981488580 | DHCR7 | c.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= | |
11 | g.71438970G>T | CA381703372 | DHCR7 | c.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 | |
11 | g.71438971C>A | CA381703374 | DHCR7 | c.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 |
11 | g.71438971C= | CA1981488581 | DHCR7 | c.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= | |
11 | g.71438971C>G | CA381703375 | DHCR7 | c.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 | |
11 | g.71438971C>T | CA6162474 | DHCR7 | c.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 |
11 | g.71438972G>A | CA6162475 | DHCR7 | c.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 |
11 | g.71438972G>C | CA475569745 | DHCR7 | c.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 | |
11 | g.71438972G= | CA1981488582 | DHCR7 | c.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= | |
11 | g.71438972G>T | CA475569746 | DHCR7 | c.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 | |
11 | g.71438973A>C | CA381703376 | DHCR7 | c.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 | |
11 | g.71438973A>G | CA381703377 | DHCR7 | c.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 | |
11 | g.71438973A>T | CA381703378 | DHCR7 | c.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 | |
11 | g.71438974C>A | CA381703379 | DHCR7 | c.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 | |
11 | g.71438974C= | CA1981488583 | DHCR7 | c.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= | |
11 | g.71438974C>G | CA381703380 | DHCR7 | c.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 | |
11 | g.71438974C>T | CA6162476 | DHCR7 | c.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 |
11 | g.71438975G>A | CA6162477 | DHCR7 | c.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 |
11 | g.71438975G>C | CA381703381 | DHCR7 | c.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 | |
11 | g.71438975G= | CA1981488584 | DHCR7 | c.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= | |
11 | g.71438975G>T | CA475569758 | DHCR7 | c.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 |
11 | g.71438975_71438990del | CA2580084842 | DHCR7 | c.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 |
11 | g.71438976A>C | CA381703383 | DHCR7 | c.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 | |
11 | g.71438976A>G | CA381703384 | DHCR7 | c.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 | |
11 | g.71438976A>T | CA381703382 | DHCR7 | c.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 | |
11 | g.71438977T>A | CA381703385 | DHCR7 | c.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 | |
11 | g.71438977T>C | CA381703387 | DHCR7 | c.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 |
11 | g.71438977T>G | CA381703386 | DHCR7 | c.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 | |
11 | g.71438978C>A | CA475569786 | DHCR7 | c.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 | |
11 | g.71438978C>G | CA475569790 | DHCR7 | c.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 | |
11 | g.71438978C>T | CA475569792 | DHCR7 | c.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 | |
11 | g.71438979C>A | CA381703388 | DHCR7 | c.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 | |
11 | g.71438979C>G | CA381703390 | DHCR7 | c.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 | |
11 | g.71438979C>T | CA381703389 | DHCR7 | c.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 | |
11 | g.71438980C>A | CA381703391 | DHCR7 | c.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 | |
11 | g.71438980C= | CA1981488585 | DHCR7 | c.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= | |
11 | g.71438980C>G | CA381703392 | DHCR7 | c.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 | |
11 | g.71438980C>T | CA253939 | DHCR7 | c.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 |
11 | g.71438981G>A | CA6162478 | DHCR7 | c.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 |
11 | g.71438981G>C | CA475569811 | DHCR7 | c.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 | |
11 | g.71438981G= | CA1981488586 | DHCR7 | c.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= | |
11 | g.71438981G>T | CA475569808 | DHCR7 | c.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 | |
11 | g.71438982G>A | CA381703393 | DHCR7 | c.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 | |
11 | g.71438982G>C | CA6162479 | DHCR7 | c.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 |
11 | g.71438982G= | CA1981488587 | DHCR7 | c.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= | |
11 | g.71438982G>T | CA381703394 | DHCR7 | c.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 | |
11 | g.71438983G>A | CA381703395 | DHCR7 | c.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 |
11 | g.71438983G>C | CA381703396 | DHCR7 | c.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 |
11 | g.71438983G= | CA1981488588 | DHCR7 | c.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= | |
11 | g.71438983G>T | CA381703397 | DHCR7 | c.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 |