| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438877A= | CA1981488531 | DHCR7 | c.831+2T= (n.831+2T=) c.657+2T= (n.657+2T=) c.882+2T= (n.882+2T=) c.867+2T= (n.867+2T=) n.871+2T= c.246+2T= (n.246+2T=) c.735+2T= (n.735+2T=) c.198+2T= (n.198+2T=) c.81+2T= (n.81+2T=) n.328T= c.187+2T= | |
| 11 | g.71438877A>C | CA381703180 | DHCR7 | c.831+2T>G (n.831+2T>G) c.657+2T>G (n.657+2T>G) c.882+2T>G (n.882+2T>G) c.867+2T>G (n.867+2T>G) n.871+2T>G c.246+2T>G (n.246+2T>G) c.735+2T>G (n.735+2T>G) c.198+2T>G (n.198+2T>G) c.81+2T>G (n.81+2T>G) n.328T>G c.187+2T>G | |
| 11 | g.71438877A>G | CA381703181 | DHCR7 | c.831+2T>C (n.831+2T>C) c.657+2T>C (n.657+2T>C) c.882+2T>C (n.882+2T>C) c.867+2T>C (n.867+2T>C) n.871+2T>C c.246+2T>C (n.246+2T>C) c.735+2T>C (n.735+2T>C) c.198+2T>C (n.198+2T>C) c.81+2T>C (n.81+2T>C) n.328T>C c.187+2T>C | |
| 11 | g.71438877A>T | CA16041552 | DHCR7 | c.831+2T>A (n.831+2T>A) c.657+2T>A (n.657+2T>A) c.882+2T>A (n.882+2T>A) c.867+2T>A (n.867+2T>A) n.871+2T>A c.246+2T>A (n.246+2T>A) c.735+2T>A (n.735+2T>A) c.198+2T>A (n.198+2T>A) c.81+2T>A (n.81+2T>A) n.328T>A c.187+2T>A | ClinVar dbSNP |
| 11 | g.71438878C>A | CA381703182 | DHCR7 | c.831+1G>T (n.831+1G>T) c.657+1G>T (n.657+1G>T) c.882+1G>T (n.882+1G>T) c.867+1G>T (n.867+1G>T) n.871+1G>T c.246+1G>T (n.246+1G>T) c.735+1G>T (n.735+1G>T) c.198+1G>T (n.198+1G>T) c.81+1G>T (n.81+1G>T) n.327G>T c.187+1G>T | |
| 11 | g.71438878C>G | CA381703183 | DHCR7 | c.831+1G>C (n.831+1G>C) c.657+1G>C (n.657+1G>C) c.882+1G>C (n.882+1G>C) c.867+1G>C (n.867+1G>C) n.871+1G>C c.246+1G>C (n.246+1G>C) c.735+1G>C (n.735+1G>C) c.198+1G>C (n.198+1G>C) c.81+1G>C (n.81+1G>C) n.327G>C c.187+1G>C | |
| 11 | g.71438878C>T | CA381703184 | DHCR7 | c.831+1G>A (n.831+1G>A) c.657+1G>A (n.657+1G>A) c.882+1G>A (n.882+1G>A) c.867+1G>A (n.867+1G>A) n.871+1G>A c.246+1G>A (n.246+1G>A) c.735+1G>A (n.735+1G>A) c.198+1G>A (n.198+1G>A) c.81+1G>A (n.81+1G>A) n.327G>A c.187+1G>A | |
| 11 | g.71438879C>A | CA381703186 | DHCR7 | c.831G>T (p.Gln277His) c.657G>T (p.Gln219His) c.882G>T (p.Gln294His) c.867G>T (p.Gln289His) n.871G>T c.246G>T (p.Gln82His) c.735G>T (p.Gln245His) c.198G>T (p.Gln66His) c.81G>T (p.Gln27His) n.326G>T c.187G>T | |
| 11 | g.71438879C= | CA1981488532 | DHCR7 | c.831G= (p.Gln277=) c.657G= (p.Gln219=) c.882G= (p.Gln294=) c.867G= (p.Gln289=) n.871G= c.246G= (p.Gln82=) c.735G= (p.Gln245=) c.198G= (p.Gln66=) c.81G= (p.Gln27=) n.326G= c.187G= | |
| 11 | g.71438879C>G | CA381703185 | DHCR7 | c.831G>C (p.Gln277His) c.657G>C (p.Gln219His) c.882G>C (p.Gln294His) c.867G>C (p.Gln289His) n.871G>C c.246G>C (p.Gln82His) c.735G>C (p.Gln245His) c.198G>C (p.Gln66His) c.81G>C (p.Gln27His) n.326G>C c.187G>C | |
| 11 | g.71438879C>T | CA475569138 | DHCR7 | c.831G>A (p.Gln277=) c.657G>A (p.Gln219=) c.882G>A (p.Gln294=) c.867G>A (p.Gln289=) n.871G>A c.246G>A (p.Gln82=) c.735G>A (p.Gln245=) c.198G>A (p.Gln66=) c.81G>A (p.Gln27=) n.326G>A c.187G>A | dbSNP gnomAD v2 |
| 11 | g.71438880T>A | CA381703187 | DHCR7 | c.830A>T (p.Gln277Leu) c.656A>T (p.Gln219Leu) c.881A>T (p.Gln294Leu) c.866A>T (p.Gln289Leu) n.870A>T c.245A>T (p.Gln82Leu) c.734A>T (p.Gln245Leu) c.197A>T (p.Gln66Leu) c.80A>T (p.Gln27Leu) n.325A>T c.186A>T | |
| 11 | g.71438880T>C | CA381703188 | DHCR7 | c.830A>G (p.Gln277Arg) c.656A>G (p.Gln219Arg) c.881A>G (p.Gln294Arg) c.866A>G (p.Gln289Arg) n.870A>G c.245A>G (p.Gln82Arg) c.734A>G (p.Gln245Arg) c.197A>G (p.Gln66Arg) c.80A>G (p.Gln27Arg) n.325A>G c.186A>G | dbSNP |
| 11 | g.71438880T>G | CA381703189 | DHCR7 | c.830A>C (p.Gln277Pro) c.656A>C (p.Gln219Pro) c.881A>C (p.Gln294Pro) c.866A>C (p.Gln289Pro) n.870A>C c.245A>C (p.Gln82Pro) c.734A>C (p.Gln245Pro) c.197A>C (p.Gln66Pro) c.80A>C (p.Gln27Pro) n.325A>C c.186A>C | gnomAD v4 |
| 11 | g.71438880T= | CA1981488533 | DHCR7 | c.830A= (p.Gln277=) c.656A= (p.Gln219=) c.881A= (p.Gln294=) c.866A= (p.Gln289=) n.870A= c.245A= (p.Gln82=) c.734A= (p.Gln245=) c.197A= (p.Gln66=) c.80A= (p.Gln27=) n.325A= c.186A= | |
| 11 | g.71438881G>A | CA381703190 | DHCR7 | c.829C>T (p.Gln277Ter) c.655C>T (p.Gln219Ter) c.880C>T (p.Gln294Ter) c.865C>T (p.Gln289Ter) n.869C>T c.244C>T (p.Gln82Ter) c.733C>T (p.Gln245Ter) c.196C>T (p.Gln66Ter) c.79C>T (p.Gln27Ter) n.324C>T c.185C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71438881G>C | CA381703191 | DHCR7 | c.829C>G (p.Gln277Glu) c.655C>G (p.Gln219Glu) c.880C>G (p.Gln294Glu) c.865C>G (p.Gln289Glu) n.869C>G c.244C>G (p.Gln82Glu) c.733C>G (p.Gln245Glu) c.196C>G (p.Gln66Glu) c.79C>G (p.Gln27Glu) n.324C>G c.185C>G | |
| 11 | g.71438881G= | CA1981488534 | DHCR7 | c.829C= (p.Gln277=) c.655C= (p.Gln219=) c.880C= (p.Gln294=) c.865C= (p.Gln289=) n.869C= c.244C= (p.Gln82=) c.733C= (p.Gln245=) c.196C= (p.Gln66=) c.79C= (p.Gln27=) n.324C= c.185C= | |
| 11 | g.71438881G>T | CA381703192 | DHCR7 | c.829C>A (p.Gln277Lys) c.655C>A (p.Gln219Lys) c.880C>A (p.Gln294Lys) c.865C>A (p.Gln289Lys) n.869C>A c.244C>A (p.Gln82Lys) c.733C>A (p.Gln245Lys) c.196C>A (p.Gln66Lys) c.79C>A (p.Gln27Lys) n.324C>A c.185C>A | |
| 11 | g.71438882C>A | CA475569160 | DHCR7 | c.828G>T (p.Leu276=) c.654G>T (p.Leu218=) c.879G>T (p.Leu293=) c.864G>T (p.Leu288=) n.868G>T c.243G>T (p.Leu81=) c.732G>T (p.Leu244=) c.195G>T (p.Leu65=) c.78G>T (p.Leu26=) n.323G>T c.184G>T | |
| 11 | g.71438882C= | CA1981488535 | DHCR7 | c.828G= (p.Leu276=) c.654G= (p.Leu218=) c.879G= (p.Leu293=) c.864G= (p.Leu288=) n.868G= c.243G= (p.Leu81=) c.732G= (p.Leu244=) c.195G= (p.Leu65=) c.78G= (p.Leu26=) n.323G= c.184G= | |
| 11 | g.71438882C>G | CA475569163 | DHCR7 | c.828G>C (p.Leu276=) c.654G>C (p.Leu218=) c.879G>C (p.Leu293=) c.864G>C (p.Leu288=) n.868G>C c.243G>C (p.Leu81=) c.732G>C (p.Leu244=) c.195G>C (p.Leu65=) c.78G>C (p.Leu26=) n.323G>C c.184G>C | |
| 11 | g.71438882C>T | CA6162447 | DHCR7 | c.828G>A (p.Leu276=) c.654G>A (p.Leu218=) c.879G>A (p.Leu293=) c.864G>A (p.Leu288=) n.868G>A c.243G>A (p.Leu81=) c.732G>A (p.Leu244=) c.195G>A (p.Leu65=) c.78G>A (p.Leu26=) n.323G>A c.184G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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 |