UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444016_71444021del | CA2614862961 | DHCR7 | c.294_299del (p.Gln98_Tyr100delinsHis) c.120_125del (p.Gln40_Tyr42delinsHis) n.571_576del c.-292_-287del (n.-292_-287del) c.198_203del (p.Gln66_Tyr68delinsHis) | gnomAD v4 |
| 11 | g.71444018A= | CA1981491019 | DHCR7 | c.296T= (p.Leu99=) c.122T= (p.Leu41=) n.573T= c.-290T= (n.-290T=) c.200T= (p.Leu67=) | |
| 11 | g.71444018A>C | CA381695993 | DHCR7 | c.296T>G (p.Leu99Arg) c.122T>G (p.Leu41Arg) n.573T>G c.-290T>G (n.-290T>G) c.200T>G (p.Leu67Arg) | |
| 11 | g.71444018A>G | CA6162643 | DHCR7 | c.296T>C (p.Leu99Pro) c.122T>C (p.Leu41Pro) n.573T>C c.-290T>C (n.-290T>C) c.200T>C (p.Leu67Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71444018A>T | CA381696000 | DHCR7 | c.296T>A (p.Leu99His) c.122T>A (p.Leu41His) n.573T>A c.-290T>A (n.-290T>A) c.200T>A (p.Leu67His) | |
| 11 | g.71444019G>A | CA381696007 | DHCR7 | c.295C>T (p.Leu99Phe) c.121C>T (p.Leu41Phe) n.572C>T c.-291C>T (n.-291C>T) c.199C>T (p.Leu67Phe) | dbSNP |
| 11 | g.71444019G>C | CA381696010 | DHCR7 | c.295C>G (p.Leu99Val) c.121C>G (p.Leu41Val) n.572C>G c.-291C>G (n.-291C>G) c.199C>G (p.Leu67Val) | |
| 11 | g.71444019G= | CA1981491020 | DHCR7 | c.295C= (p.Leu99=) c.121C= (p.Leu41=) n.572C= c.-291C= (n.-291C=) c.199C= (p.Leu67=) | |
| 11 | g.71444019G>T | CA381696027 | DHCR7 | c.295C>A (p.Leu99Ile) c.121C>A (p.Leu41Ile) n.572C>A c.-291C>A (n.-291C>A) c.199C>A (p.Leu67Ile) | |
| 11 | g.71444020C>A | CA381696029 | DHCR7 | c.294G>T (p.Gln98His) c.120G>T (p.Gln40His) n.571G>T c.-292G>T (n.-292G>T) c.198G>T (p.Gln66His) | gnomAD v4 |
| 11 | g.71444020C= | CA1981491021 | DHCR7 | c.294G= (p.Gln98=) c.120G= (p.Gln40=) n.571G= c.-292G= (n.-292G=) c.198G= (p.Gln66=) | |
| 11 | g.71444020C>G | CA381696030 | DHCR7 | c.294G>C (p.Gln98His) c.120G>C (p.Gln40His) n.571G>C c.-292G>C (n.-292G>C) c.198G>C (p.Gln66His) | |
| 11 | g.71444020C>T | CA475520126 | DHCR7 | c.294G>A (p.Gln98=) c.120G>A (p.Gln40=) n.571G>A c.-292G>A (n.-292G>A) c.198G>A (p.Gln66=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444021T>A | CA381696032 | DHCR7 | c.293A>T (p.Gln98Leu) c.119A>T (p.Gln40Leu) n.570A>T c.-293A>T (n.-293A>T) c.197A>T (p.Gln66Leu) | |
| 11 | g.71444021T>C | CA381696034 | DHCR7 | c.293A>G (p.Gln98Arg) c.119A>G (p.Gln40Arg) n.570A>G c.-293A>G (n.-293A>G) c.197A>G (p.Gln66Arg) | |
| 11 | g.71444021T>G | CA381696038 | DHCR7 | c.293A>C (p.Gln98Pro) c.119A>C (p.Gln40Pro) n.570A>C c.-293A>C (n.-293A>C) c.197A>C (p.Gln66Pro) | |
| 11 | g.71444022G>A | CA273887 | DHCR7 | c.292C>T (p.Gln98Ter) c.118C>T (p.Gln40Ter) n.569C>T c.-294C>T (n.-294C>T) c.196C>T (p.Gln66Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444022G>C | CA381696045 | DHCR7 | c.292C>G (p.Gln98Glu) c.118C>G (p.Gln40Glu) n.569C>G c.-294C>G (n.-294C>G) c.196C>G (p.Gln66Glu) | gnomAD v4 |
| 11 | g.71444022G= | CA1981491022 | DHCR7 | c.292C= (p.Gln98=) c.118C= (p.Gln40=) n.569C= c.-294C= (n.-294C=) c.196C= (p.Gln66=) | |
| 11 | g.71444022G>T | CA381696047 | DHCR7 | c.292C>A (p.Gln98Lys) c.118C>A (p.Gln40Lys) n.569C>A c.-294C>A (n.-294C>A) c.196C>A (p.Gln66Lys) | |
| 11 | g.71444023G>A | CA6162644 | DHCR7 | c.291C>T (p.Ala97=) c.117C>T (p.Ala39=) n.568C>T c.-295C>T (n.-295C>T) c.195C>T (p.Ala65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444023G>C | CA475520143 | DHCR7 | c.291C>G (p.Ala97=) c.117C>G (p.Ala39=) n.568C>G c.-295C>G (n.-295C>G) c.195C>G (p.Ala65=) | gnomAD v4 |
| 11 | g.71444023G= | CA1981491023 | DHCR7 | c.291C= (p.Ala97=) c.117C= (p.Ala39=) n.568C= c.-295C= (n.-295C=) c.195C= (p.Ala65=) | |
| 11 | g.71444023G>T | CA475520142 | DHCR7 | c.291C>A (p.Ala97=) c.117C>A (p.Ala39=) n.568C>A c.-295C>A (n.-295C>A) c.195C>A (p.Ala65=) | |
| 11 | g.71444024G>A | CA381696058 | DHCR7 | c.290C>T (p.Ala97Val) c.116C>T (p.Ala39Val) n.567C>T c.-296C>T (n.-296C>T) c.194C>T (p.Ala65Val) | |
| 11 | g.71444024G>C | CA381696053 | DHCR7 | c.290C>G (p.Ala97Gly) c.116C>G (p.Ala39Gly) n.567C>G c.-296C>G (n.-296C>G) c.194C>G (p.Ala65Gly) | |
| 11 | g.71444024G>T | CA381696056 | DHCR7 | c.290C>A (p.Ala97Asp) c.116C>A (p.Ala39Asp) n.567C>A c.-296C>A (n.-296C>A) c.194C>A (p.Ala65Asp) | |
| 11 | g.71444025C>A | CA381696062 | DHCR7 | c.289G>T (p.Ala97Ser) c.115G>T (p.Ala39Ser) n.566G>T c.-297G>T (n.-297G>T) c.193G>T (p.Ala65Ser) | |
| 11 | g.71444025C= | CA1981491024 | DHCR7 | c.289G= (p.Ala97=) c.115G= (p.Ala39=) n.566G= c.-297G= (n.-297G=) c.193G= (p.Ala65=) | |
| 11 | g.71444025C>G | CA381696065 | DHCR7 | c.289G>C (p.Ala97Pro) c.115G>C (p.Ala39Pro) n.566G>C c.-297G>C (n.-297G>C) c.193G>C (p.Ala65Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444025C>T | CA6162645 | DHCR7 | c.289G>A (p.Ala97Thr) c.115G>A (p.Ala39Thr) n.566G>A c.-297G>A (n.-297G>A) c.193G>A (p.Ala65Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444026G>A | CA6162646 | DHCR7 | c.288C>T (p.Ala96=) c.114C>T (p.Ala38=) n.565C>T c.-298C>T (n.-298C>T) c.192C>T (p.Ala64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444026G>C | CA475520160 | DHCR7 | c.288C>G (p.Ala96=) c.114C>G (p.Ala38=) n.565C>G c.-298C>G (n.-298C>G) c.192C>G (p.Ala64=) | |
| 11 | g.71444026G= | CA1981491025 | DHCR7 | c.288C= (p.Ala96=) c.114C= (p.Ala38=) n.565C= c.-298C= (n.-298C=) c.192C= (p.Ala64=) | |
| 11 | g.71444026G>T | CA475520156 | DHCR7 | c.288C>A (p.Ala96=) c.114C>A (p.Ala38=) n.565C>A c.-298C>A (n.-298C>A) c.192C>A (p.Ala64=) | gnomAD v4 |
| 11 | g.71444027G>A | CA381696087 | DHCR7 | c.287C>T (p.Ala96Val) c.113C>T (p.Ala38Val) n.564C>T c.-299C>T (n.-299C>T) c.191C>T (p.Ala64Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444027G>C | CA381696076 | DHCR7 | c.287C>G (p.Ala96Gly) c.113C>G (p.Ala38Gly) n.564C>G c.-299C>G (n.-299C>G) c.191C>G (p.Ala64Gly) | |
| 11 | g.71444027G= | CA1981491026 | DHCR7 | c.287C= (p.Ala96=) c.113C= (p.Ala38=) n.564C= c.-299C= (n.-299C=) c.191C= (p.Ala64=) | |
| 11 | g.71444027G>T | CA381696079 | DHCR7 | c.287C>A (p.Ala96Asp) c.113C>A (p.Ala38Asp) n.564C>A c.-299C>A (n.-299C>A) c.191C>A (p.Ala64Asp) | |
| 11 | g.71444028C>A | CA381696093 | DHCR7 | c.286G>T (p.Ala96Ser) c.112G>T (p.Ala38Ser) n.563G>T c.-300G>T (n.-300G>T) c.190G>T (p.Ala64Ser) | |
| 11 | g.71444028C>G | CA381696102 | DHCR7 | c.286G>C (p.Ala96Pro) c.112G>C (p.Ala38Pro) n.563G>C c.-300G>C (n.-300G>C) c.190G>C (p.Ala64Pro) | |
| 11 | g.71444028C>T | CA381696105 | DHCR7 | c.286G>A (p.Ala96Thr) c.112G>A (p.Ala38Thr) n.563G>A c.-300G>A (n.-300G>A) c.190G>A (p.Ala64Thr) | |
| 11 | g.71444029T>A | CA381696111 | DHCR7 | c.285A>T (p.Lys95Asn) c.111A>T (p.Lys37Asn) n.562A>T c.-301A>T (n.-301A>T) c.189A>T (p.Lys63Asn) | |
| 11 | g.71444029T>C | CA475520175 | DHCR7 | c.285A>G (p.Lys95=) c.111A>G (p.Lys37=) n.562A>G c.-301A>G (n.-301A>G) c.189A>G (p.Lys63=) | |
| 11 | g.71444029T>G | CA381696115 | DHCR7 | c.285A>C (p.Lys95Asn) c.111A>C (p.Lys37Asn) n.562A>C c.-301A>C (n.-301A>C) c.189A>C (p.Lys63Asn) | dbSNP |
| 11 | g.71444029T= | CA1981491027 | DHCR7 | c.285A= (p.Lys95=) c.111A= (p.Lys37=) n.562A= c.-301A= (n.-301A=) c.189A= (p.Lys63=) | |
| 11 | g.71444030T>A | CA381696121 | DHCR7 | c.284A>T (p.Lys95Ile) c.110A>T (p.Lys37Ile) n.561A>T c.-302A>T (n.-302A>T) c.188A>T (p.Lys63Ile) | |
| 11 | g.71444030T>C | CA381696129 | DHCR7 | c.284A>G (p.Lys95Arg) c.110A>G (p.Lys37Arg) n.561A>G c.-302A>G (n.-302A>G) c.188A>G (p.Lys63Arg) | |
| 11 | g.71444030T>G | CA381696125 | DHCR7 | c.284A>C (p.Lys95Thr) c.110A>C (p.Lys37Thr) n.561A>C c.-302A>C (n.-302A>C) c.188A>C (p.Lys63Thr) | |
| 11 | g.71444031T>A | CA381696134 | DHCR7 | c.283A>T (p.Lys95Ter) c.109A>T (p.Lys37Ter) n.560A>T c.-303A>T (n.-303A>T) c.187A>T (p.Lys63Ter) | |
| 11 | g.71444031T>C | CA381696136 | DHCR7 | c.283A>G (p.Lys95Glu) c.109A>G (p.Lys37Glu) n.560A>G c.-303A>G (n.-303A>G) c.187A>G (p.Lys63Glu) | |
| 11 | g.71444031T>G | CA381696138 | DHCR7 | c.283A>C (p.Lys95Gln) c.109A>C (p.Lys37Gln) n.560A>C c.-303A>C (n.-303A>C) c.187A>C (p.Lys63Gln) | |
| 11 | g.71444032C>A | CA381696141 | DHCR7 | c.282G>T (p.Arg94Ser) c.108G>T (p.Arg36Ser) n.559G>T c.-304G>T (n.-304G>T) c.186G>T (p.Arg62Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444032C= | CA1981491028 | DHCR7 | c.282G= (p.Arg94=) c.108G= (p.Arg36=) n.559G= c.-304G= (n.-304G=) c.186G= (p.Arg62=) | |
| 11 | g.71444032C>G | CA381696144 | DHCR7 | c.282G>C (p.Arg94Ser) c.108G>C (p.Arg36Ser) n.559G>C c.-304G>C (n.-304G>C) c.186G>C (p.Arg62Ser) | |
| 11 | g.71444032C>T | CA224280804 | DHCR7 | c.282G>A (p.Arg94=) c.108G>A (p.Arg36=) n.559G>A c.-304G>A (n.-304G>A) c.186G>A (p.Arg62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444033C>A | CA381696149 | DHCR7 | c.281G>T (p.Arg94Met) c.107G>T (p.Arg36Met) n.558G>T c.-305G>T (n.-305G>T) c.185G>T (p.Arg62Met) | |
| 11 | g.71444033C>G | CA381696152 | DHCR7 | c.281G>C (p.Arg94Thr) c.107G>C (p.Arg36Thr) n.558G>C c.-305G>C (n.-305G>C) c.185G>C (p.Arg62Thr) | |
| 11 | g.71444033C>T | CA381696154 | DHCR7 | c.281G>A (p.Arg94Lys) c.107G>A (p.Arg36Lys) n.558G>A c.-305G>A (n.-305G>A) c.185G>A (p.Arg62Lys) | |
| 11 | g.71444034T>A | CA381696157 | DHCR7 | c.280A>T (p.Arg94Trp) c.106A>T (p.Arg36Trp) c.106A>T n.557A>T c.-306A>T (n.-306A>T) c.184A>T (p.Arg62Trp) c.220A>T | |
| 11 | g.71444034T>C | CA381696159 | DHCR7 | c.280A>G (p.Arg94Gly) c.106A>G (p.Arg36Gly) c.106A>G n.557A>G c.-306A>G (n.-306A>G) c.184A>G (p.Arg62Gly) c.220A>G | |
| 11 | g.71444034T>G | CA475520201 | DHCR7 | c.280A>C (p.Arg94=) c.106A>C (p.Arg36=) c.106A>C n.557A>C c.-306A>C (n.-306A>C) c.184A>C (p.Arg62=) c.220A>C | |
| 11 | g.71444035C>A | CA475520203 | DHCR7 | c.279G>T (p.Thr93=) c.105G>T (p.Thr35=) n.556G>T c.-307G>T (n.-307G>T) c.183G>T (p.Thr61=) c.219G>T (p.Thr73=) | |
| 11 | g.71444035C= | CA1981491029 | DHCR7 | c.279G= (p.Thr93=) c.105G= (p.Thr35=) n.556G= c.-307G= (n.-307G=) c.183G= (p.Thr61=) c.219G= (p.Thr73=) | |
| 11 | g.71444035C>G | CA475520206 | DHCR7 | c.279G>C (p.Thr93=) c.105G>C (p.Thr35=) n.556G>C c.-307G>C (n.-307G>C) c.183G>C (p.Thr61=) c.219G>C (p.Thr73=) | |
| 11 | g.71444035C>T | CA6162647 | DHCR7 | c.279G>A (p.Thr93=) c.105G>A (p.Thr35=) n.556G>A c.-307G>A (n.-307G>A) c.183G>A (p.Thr61=) c.219G>A (p.Thr73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71444036G>A | CA221665 | DHCR7 | c.278C>T (p.Thr93Met) c.104C>T (p.Thr35Met) n.555C>T c.-308C>T (n.-308C>T) c.182C>T (p.Thr61Met) c.218C>T (p.Thr73Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444036G>C | CA381696166 | DHCR7 | c.278C>G (p.Thr93Arg) c.104C>G (p.Thr35Arg) n.555C>G c.-308C>G (n.-308C>G) c.182C>G (p.Thr61Arg) c.218C>G (p.Thr73Arg) | |
| 11 | g.71444036G= | CA1981491030 | DHCR7 | c.278C= (p.Thr93=) c.104C= (p.Thr35=) n.555C= c.-308C= (n.-308C=) c.182C= (p.Thr61=) c.218C= (p.Thr73=) | |
| 11 | g.71444036G>T | CA381696172 | DHCR7 | c.278C>A (p.Thr93Lys) c.104C>A (p.Thr35Lys) n.555C>A c.-308C>A (n.-308C>A) c.182C>A (p.Thr61Lys) c.218C>A (p.Thr73Lys) | ClinVar |
| 11 | g.71444037T>A | CA381696176 | DHCR7 | c.277A>T (p.Thr93Ser) c.103A>T (p.Thr35Ser) n.554A>T c.-309A>T (n.-309A>T) c.181A>T (p.Thr61Ser) c.217A>T (p.Thr73Ser) | |
| 11 | g.71444037T>C | CA381696179 | DHCR7 | c.277A>G (p.Thr93Ala) c.103A>G (p.Thr35Ala) n.554A>G c.-309A>G (n.-309A>G) c.181A>G (p.Thr61Ala) c.217A>G (p.Thr73Ala) | |
| 11 | g.71444037T>G | CA381696182 | DHCR7 | c.277A>C (p.Thr93Pro) c.103A>C (p.Thr35Pro) n.554A>C c.-309A>C (n.-309A>C) c.181A>C (p.Thr61Pro) c.217A>C (p.Thr73Pro) | |
| 11 | g.71444038T>A | CA475520222 | DHCR7 | c.276A>T (p.Ile92=) c.102A>T (p.Ile34=) n.553A>T c.-310A>T (n.-310A>T) c.180A>T (p.Ile60=) c.216A>T (p.Ile72=) | |
| 11 | g.71444038T>C | CA381696196 | DHCR7 | c.276A>G (p.Ile92Met) c.102A>G (p.Ile34Met) n.553A>G c.-310A>G (n.-310A>G) c.180A>G (p.Ile60Met) c.216A>G (p.Ile72Met) | |
| 11 | g.71444038T>G | CA475520225 | DHCR7 | c.276A>C (p.Ile92=) c.102A>C (p.Ile34=) n.553A>C c.-310A>C (n.-310A>C) c.180A>C (p.Ile60=) c.216A>C (p.Ile72=) | |
| 11 | g.71444039A>C | CA381696198 | DHCR7 | c.275T>G (p.Ile92Arg) c.101T>G (p.Ile34Arg) n.552T>G c.-311T>G (n.-311T>G) c.179T>G (p.Ile60Arg) c.215T>G (p.Ile72Arg) | |
| 11 | g.71444039A>G | CA381696201 | DHCR7 | c.275T>C (p.Ile92Thr) c.101T>C (p.Ile34Thr) n.552T>C c.-311T>C (n.-311T>C) c.179T>C (p.Ile60Thr) c.215T>C (p.Ile72Thr) | |
| 11 | g.71444039A>T | CA381696204 | DHCR7 | c.275T>A (p.Ile92Lys) c.101T>A (p.Ile34Lys) n.552T>A c.-311T>A (n.-311T>A) c.179T>A (p.Ile60Lys) c.215T>A (p.Ile72Lys) | gnomAD v4 |
| 11 | g.71444040T>A | CA381696207 | DHCR7 | c.274A>T (p.Ile92Leu) c.100A>T (p.Ile34Leu) n.551A>T c.-312A>T (n.-312A>T) c.178A>T (p.Ile60Leu) c.214A>T (p.Ile72Leu) | |
| 11 | g.71444040T>C | CA381696211 | DHCR7 | c.274A>G (p.Ile92Val) c.100A>G (p.Ile34Val) n.551A>G c.-312A>G (n.-312A>G) c.178A>G (p.Ile60Val) c.214A>G (p.Ile72Val) | gnomAD v4 |
| 11 | g.71444040T>G | CA381696209 | DHCR7 | c.274A>C (p.Ile92Leu) c.100A>C (p.Ile34Leu) n.551A>C c.-312A>C (n.-312A>C) c.178A>C (p.Ile60Leu) c.214A>C (p.Ile72Leu) | |
| 11 | g.71444041A= | CA1981491031 | DHCR7 | c.273T= (p.Pro91=) c.99T= (p.Pro33=) n.550T= c.-313T= (n.-313T=) c.177T= (p.Pro59=) c.213T= (p.Pro71=) | |
| 11 | g.71444041A>C | CA475520240 | DHCR7 | c.273T>G (p.Pro91=) c.99T>G (p.Pro33=) n.550T>G c.-313T>G (n.-313T>G) c.177T>G (p.Pro59=) c.213T>G (p.Pro71=) | |
| 11 | g.71444041A>G | CA6162648 | DHCR7 | c.273T>C (p.Pro91=) c.99T>C (p.Pro33=) n.550T>C c.-313T>C (n.-313T>C) c.177T>C (p.Pro59=) c.213T>C (p.Pro71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444041A>T | CA475520242 | DHCR7 | c.273T>A (p.Pro91=) c.99T>A (p.Pro33=) n.550T>A c.-313T>A (n.-313T>A) c.177T>A (p.Pro59=) c.213T>A (p.Pro71=) | ClinVar dbSNP |
| 11 | g.71444042G>A | CA381696213 | DHCR7 | c.272C>T (p.Pro91Leu) c.98C>T (p.Pro33Leu) n.549C>T c.-314C>T (n.-314C>T) c.176C>T (p.Pro59Leu) c.212C>T (p.Pro71Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444042G>C | CA381696215 | DHCR7 | c.272C>G (p.Pro91Arg) c.98C>G (p.Pro33Arg) n.549C>G c.-314C>G (n.-314C>G) c.176C>G (p.Pro59Arg) c.212C>G (p.Pro71Arg) | |
| 11 | g.71444042G= | CA1981491032 | DHCR7 | c.272C= (p.Pro91=) c.98C= (p.Pro33=) n.549C= c.-314C= (n.-314C=) c.176C= (p.Pro59=) c.212C= (p.Pro71=) | |
| 11 | g.71444042G>T | CA381696216 | DHCR7 | c.272C>A (p.Pro91His) c.98C>A (p.Pro33His) n.549C>A c.-314C>A (n.-314C>A) c.176C>A (p.Pro59His) c.212C>A (p.Pro71His) | |
| 11 | g.71444043G>A | CA381696218 | DHCR7 | c.271C>T (p.Pro91Ser) c.97C>T (p.Pro33Ser) n.548C>T c.-315C>T (n.-315C>T) c.175C>T (p.Pro59Ser) c.211C>T (p.Pro71Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444043G>C | CA381696221 | DHCR7 | c.271C>G (p.Pro91Ala) c.97C>G (p.Pro33Ala) n.548C>G c.-315C>G (n.-315C>G) c.175C>G (p.Pro59Ala) c.211C>G (p.Pro71Ala) | |
| 11 | g.71444043G= | CA1981491033 | DHCR7 | c.271C= (p.Pro91=) c.97C= (p.Pro33=) n.548C= c.-315C= (n.-315C=) c.175C= (p.Pro59=) c.211C= (p.Pro71=) | |
| 11 | g.71444043G>T | CA381696220 | DHCR7 | c.271C>A (p.Pro91Thr) c.97C>A (p.Pro33Thr) n.548C>A c.-315C>A (n.-315C>A) c.175C>A (p.Pro59Thr) c.211C>A (p.Pro71Thr) | |
| 11 | g.71444044T>A | CA475520258 | DHCR7 | c.270A>T (p.Pro90=) c.96A>T (p.Pro32=) n.547A>T c.-316A>T (n.-316A>T) c.174A>T (p.Pro58=) c.210A>T (p.Pro70=) | |
| 11 | g.71444044T>C | CA475520261 | DHCR7 | c.270A>G (p.Pro90=) c.96A>G (p.Pro32=) n.547A>G c.-316A>G (n.-316A>G) c.174A>G (p.Pro58=) c.210A>G (p.Pro70=) | ClinVar dbSNP |
| 11 | g.71444044T>G | CA475520264 | DHCR7 | c.270A>C (p.Pro90=) c.96A>C (p.Pro32=) n.547A>C c.-316A>C (n.-316A>C) c.174A>C (p.Pro58=) c.210A>C (p.Pro70=) | |
| 11 | g.71444044T= | CA1981491034 | DHCR7 | c.270A= (p.Pro90=) c.96A= (p.Pro32=) n.547A= c.-316A= (n.-316A=) c.174A= (p.Pro58=) c.210A= (p.Pro70=) | |
| 11 | g.71444045G>A | CA381696223 | DHCR7 | c.269C>T (p.Pro90Leu) c.95C>T (p.Pro32Leu) n.546C>T c.-317C>T (n.-317C>T) c.173C>T (p.Pro58Leu) c.209C>T (p.Pro70Leu) | |
| 11 | g.71444045G>C | CA381696225 | DHCR7 | c.269C>G (p.Pro90Arg) c.95C>G (p.Pro32Arg) n.546C>G c.-317C>G (n.-317C>G) c.173C>G (p.Pro58Arg) c.209C>G (p.Pro70Arg) | |
| 11 | g.71444045G>T | CA381696227 | DHCR7 | c.269C>A (p.Pro90Gln) c.95C>A (p.Pro32Gln) n.546C>A c.-317C>A (n.-317C>A) c.173C>A (p.Pro58Gln) c.209C>A (p.Pro70Gln) | |
| 11 | g.71444046G>A | CA6162649 | DHCR7 | c.268C>T (p.Pro90Ser) c.94C>T (p.Pro32Ser) n.545C>T c.-318C>T (n.-318C>T) c.172C>T (p.Pro58Ser) c.208C>T (p.Pro70Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.71444046G>C | CA381696230 | DHCR7 | c.268C>G (p.Pro90Ala) c.94C>G (p.Pro32Ala) n.545C>G c.-318C>G (n.-318C>G) c.172C>G (p.Pro58Ala) c.208C>G (p.Pro70Ala) | |
| 11 | g.71444046G= | CA1981491035 | DHCR7 | c.268C= (p.Pro90=) c.94C= (p.Pro32=) n.545C= c.-318C= (n.-318C=) c.172C= (p.Pro58=) c.208C= (p.Pro70=) | |
| 11 | g.71444046G>T | CA381696234 | DHCR7 | c.268C>A (p.Pro90Thr) c.94C>A (p.Pro32Thr) n.545C>A c.-318C>A (n.-318C>A) c.172C>A (p.Pro58Thr) c.208C>A (p.Pro70Thr) | |
| 11 | g.71444047A= | CA1981491036 | DHCR7 | c.267T= (p.Thr89=) c.93T= (p.Thr31=) n.544T= c.-319T= (n.-319T=) c.171T= (p.Thr57=) c.207T= (p.Thr69=) | |
| 11 | g.71444047A>C | CA475520277 | DHCR7 | c.267T>G (p.Thr89=) c.93T>G (p.Thr31=) n.544T>G c.-319T>G (n.-319T>G) c.171T>G (p.Thr57=) c.207T>G (p.Thr69=) | gnomAD v4 |
| 11 | g.71444047A>G | CA6162650 | DHCR7 | c.267T>C (p.Thr89=) c.93T>C (p.Thr31=) n.544T>C c.-319T>C (n.-319T>C) c.171T>C (p.Thr57=) c.207T>C (p.Thr69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444047A>T | CA475520280 | DHCR7 | c.267T>A (p.Thr89=) c.93T>A (p.Thr31=) n.544T>A c.-319T>A (n.-319T>A) c.171T>A (p.Thr57=) c.207T>A (p.Thr69=) | dbSNP |
| 11 | g.71444048del | CA2697548793 | DHCR7 | c.266del (p.Thr89IlefsTer4) c.92del (p.Thr31IlefsTer4) n.543del c.-320del (n.-320del) c.170del (p.Thr57IlefsTer4) c.266del (p.Thr89IlefsTer?) c.206del (p.Thr69IlefsTer4) | ClinVar |
| 11 | g.71444048G>A | CA381696237 | DHCR7 | c.266C>T (p.Thr89Ile) c.92C>T (p.Thr31Ile) n.543C>T c.-320C>T (n.-320C>T) c.170C>T (p.Thr57Ile) c.206C>T (p.Thr69Ile) | |
| 11 | g.71444048G>C | CA381696238 | DHCR7 | c.266C>G (p.Thr89Ser) c.92C>G (p.Thr31Ser) n.543C>G c.-320C>G (n.-320C>G) c.170C>G (p.Thr57Ser) c.206C>G (p.Thr69Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444048G= | CA1981491037 | DHCR7 | c.266C= (p.Thr89=) c.92C= (p.Thr31=) n.543C= c.-320C= (n.-320C=) c.170C= (p.Thr57=) c.206C= (p.Thr69=) | |
| 11 | g.71444048G>T | CA381696240 | DHCR7 | c.266C>A (p.Thr89Asn) c.92C>A (p.Thr31Asn) n.543C>A c.-320C>A (n.-320C>A) c.170C>A (p.Thr57Asn) c.206C>A (p.Thr69Asn) | |
| 11 | g.71444049T>A | CA224280811 | DHCR7 | c.265A>T (p.Thr89Ser) c.91A>T (p.Thr31Ser) n.542A>T c.-321A>T (n.-321A>T) c.169A>T (p.Thr57Ser) c.205A>T (p.Thr69Ser) | dbSNP |
| 11 | g.71444049T>C | CA224280813 | DHCR7 | c.265A>G (p.Thr89Ala) c.91A>G (p.Thr31Ala) n.542A>G c.-321A>G (n.-321A>G) c.169A>G (p.Thr57Ala) c.205A>G (p.Thr69Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444049T>G | CA381696243 | DHCR7 | c.265A>C (p.Thr89Pro) c.91A>C (p.Thr31Pro) n.542A>C c.-321A>C (n.-321A>C) c.169A>C (p.Thr57Pro) c.205A>C (p.Thr69Pro) | |
| 11 | g.71444049T= | CA1981491038 | DHCR7 | c.265A= (p.Thr89=) c.91A= (p.Thr31=) n.542A= c.-321A= (n.-321A=) c.169A= (p.Thr57=) c.205A= (p.Thr69=) | |
| 11 | g.71444050C>A | CA381696248 | DHCR7 | c.264G>T (p.Lys88Asn) c.90G>T (p.Lys30Asn) n.541G>T c.-322G>T (n.-322G>T) c.168G>T (p.Lys56Asn) c.204G>T (p.Lys68Asn) | |
| 11 | g.71444050C>G | CA381696250 | DHCR7 | c.264G>C (p.Lys88Asn) c.90G>C (p.Lys30Asn) n.541G>C c.-322G>C (n.-322G>C) c.168G>C (p.Lys56Asn) c.204G>C (p.Lys68Asn) | COSMIC COSMIC |
| 11 | g.71444050C>T | CA475520307 | DHCR7 | c.264G>A (p.Lys88=) c.90G>A (p.Lys30=) n.541G>A c.-322G>A (n.-322G>A) c.168G>A (p.Lys56=) c.204G>A (p.Lys68=) | |
| 11 | g.71444051T>A | CA381696251 | DHCR7 | c.263A>T (p.Lys88Met) c.89A>T (p.Lys30Met) n.540A>T c.-323A>T (n.-323A>T) c.167A>T (p.Lys56Met) c.203A>T (p.Lys68Met) | |
| 11 | g.71444051T>C | CA381696253 | DHCR7 | c.263A>G (p.Lys88Arg) c.89A>G (p.Lys30Arg) n.540A>G c.-323A>G (n.-323A>G) c.167A>G (p.Lys56Arg) c.203A>G (p.Lys68Arg) | COSMIC COSMIC |
| 11 | g.71444051T>G | CA381696254 | DHCR7 | c.263A>C (p.Lys88Thr) c.89A>C (p.Lys30Thr) n.540A>C c.-323A>C (n.-323A>C) c.167A>C (p.Lys56Thr) c.203A>C (p.Lys68Thr) | |
| 11 | g.71444052T>A | CA381696259 | DHCR7 | c.262A>T (p.Lys88Ter) c.88A>T (p.Lys30Ter) n.539A>T c.-324A>T (n.-324A>T) c.166A>T (p.Lys56Ter) c.202A>T (p.Lys68Ter) | |
| 11 | g.71444052T>C | CA381696258 | DHCR7 | c.262A>G (p.Lys88Glu) c.88A>G (p.Lys30Glu) n.539A>G c.-324A>G (n.-324A>G) c.166A>G (p.Lys56Glu) c.202A>G (p.Lys68Glu) | gnomAD v4 |
| 11 | g.71444052T>G | CA381696257 | DHCR7 | c.262A>C (p.Lys88Gln) c.88A>C (p.Lys30Gln) n.539A>C c.-324A>C (n.-324A>C) c.166A>C (p.Lys56Gln) c.202A>C (p.Lys68Gln) | |
| 11 | g.71444053G>A | CA475520320 | DHCR7 | c.261C>T (p.Ala87=) c.87C>T (p.Ala29=) n.538C>T c.-325C>T (n.-325C>T) c.165C>T (p.Ala55=) c.201C>T (p.Ala67=) | |
| 11 | g.71444053G>C | CA475520322 | DHCR7 | c.261C>G (p.Ala87=) c.87C>G (p.Ala29=) n.538C>G c.-325C>G (n.-325C>G) c.165C>G (p.Ala55=) c.201C>G (p.Ala67=) | |
| 11 | g.71444053G= | CA1981491039 | DHCR7 | c.261C= (p.Ala87=) c.87C= (p.Ala29=) n.538C= c.-325C= (n.-325C=) c.165C= (p.Ala55=) c.201C= (p.Ala67=) | |
| 11 | g.71444053G>T | CA475520325 | DHCR7 | c.261C>A (p.Ala87=) c.87C>A (p.Ala29=) n.538C>A c.-325C>A (n.-325C>A) c.165C>A (p.Ala55=) c.201C>A (p.Ala67=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444054G>A | CA381696262 | DHCR7 | c.260C>T (p.Ala87Val) c.86C>T (p.Ala29Val) n.537C>T c.-326C>T (n.-326C>T) c.164C>T (p.Ala55Val) c.200C>T (p.Ala67Val) | gnomAD v4 |
| 11 | g.71444054G>C | CA381696263 | DHCR7 | c.260C>G (p.Ala87Gly) c.86C>G (p.Ala29Gly) n.537C>G c.-326C>G (n.-326C>G) c.164C>G (p.Ala55Gly) c.200C>G (p.Ala67Gly) | |
| 11 | g.71444054G>T | CA381696265 | DHCR7 | c.260C>A (p.Ala87Asp) c.86C>A (p.Ala29Asp) n.537C>A c.-326C>A (n.-326C>A) c.164C>A (p.Ala55Asp) c.200C>A (p.Ala67Asp) | |
| 11 | g.71444055C>A | CA381696266 | DHCR7 | c.259G>T (p.Ala87Ser) c.85G>T (p.Ala29Ser) n.536G>T c.-327G>T (n.-327G>T) c.163G>T (p.Ala55Ser) c.199G>T (p.Ala67Ser) | |
| 11 | g.71444055C>G | CA381696267 | DHCR7 | c.259G>C (p.Ala87Pro) c.85G>C (p.Ala29Pro) n.536G>C c.-327G>C (n.-327G>C) c.163G>C (p.Ala55Pro) c.199G>C (p.Ala67Pro) | |
| 11 | g.71444055C>T | CA381696268 | DHCR7 | c.259G>A (p.Ala87Thr) c.85G>A (p.Ala29Thr) n.536G>A c.-327G>A (n.-327G>A) c.163G>A (p.Ala55Thr) c.199G>A (p.Ala67Thr) | |
| 11 | g.71444056C>A | CA381696271 | DHCR7 | c.258G>T (p.Trp86Cys) c.84G>T (p.Trp28Cys) n.535G>T c.-328G>T (n.-328G>T) c.162G>T (p.Trp54Cys) c.198G>T (p.Trp66Cys) | |
| 11 | g.71444056C>G | CA381696274 | DHCR7 | c.258G>C (p.Trp86Cys) c.84G>C (p.Trp28Cys) n.535G>C c.-328G>C (n.-328G>C) c.162G>C (p.Trp54Cys) c.198G>C (p.Trp66Cys) | |
| 11 | g.71444056C>T | CA381696273 | DHCR7 | c.258G>A (p.Trp86Ter) c.84G>A (p.Trp28Ter) n.535G>A c.-328G>A (n.-328G>A) c.162G>A (p.Trp54Ter) c.198G>A (p.Trp66Ter) | |
| 11 | g.71444057C>A | CA381696276 | DHCR7 | c.257G>T (p.Trp86Leu) c.83G>T (p.Trp28Leu) n.534G>T c.-329G>T (n.-329G>T) c.161G>T (p.Trp54Leu) c.197G>T (p.Trp66Leu) | |
| 11 | g.71444057C>G | CA381696278 | DHCR7 | c.257G>C (p.Trp86Ser) c.83G>C (p.Trp28Ser) n.534G>C c.-329G>C (n.-329G>C) c.161G>C (p.Trp54Ser) c.197G>C (p.Trp66Ser) | |
| 11 | g.71444057C>T | CA381696279 | DHCR7 | c.257G>A (p.Trp86Ter) c.83G>A (p.Trp28Ter) n.534G>A c.-329G>A (n.-329G>A) c.161G>A (p.Trp54Ter) c.197G>A (p.Trp66Ter) | |
| 11 | g.71444058A>C | CA381696281 | DHCR7 | c.256T>G (p.Trp86Gly) c.82T>G (p.Trp28Gly) n.533T>G c.-330T>G (n.-330T>G) c.160T>G (p.Trp54Gly) c.196T>G (p.Trp66Gly) | |
| 11 | g.71444058A>G | CA381696283 | DHCR7 | c.256T>C (p.Trp86Arg) c.82T>C (p.Trp28Arg) n.533T>C c.-330T>C (n.-330T>C) c.160T>C (p.Trp54Arg) c.196T>C (p.Trp66Arg) | |
| 11 | g.71444058A>T | CA381696285 | DHCR7 | c.256T>A (p.Trp86Arg) c.82T>A (p.Trp28Arg) n.533T>A c.-330T>A (n.-330T>A) c.160T>A (p.Trp54Arg) c.196T>A (p.Trp66Arg) | |
| 11 | g.71444059G>A | CA224280815 | DHCR7 | c.255C>T (p.Ile85=) c.81C>T (p.Ile27=) n.532C>T c.-331C>T (n.-331C>T) c.159C>T (p.Ile53=) c.195C>T (p.Ile65=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444059G>C | CA381696287 | DHCR7 | c.255C>G (p.Ile85Met) c.81C>G (p.Ile27Met) n.532C>G c.-331C>G (n.-331C>G) c.159C>G (p.Ile53Met) c.195C>G (p.Ile65Met) | |
| 11 | g.71444059G= | CA1981491040 | DHCR7 | c.255C= (p.Ile85=) c.81C= (p.Ile27=) n.532C= c.-331C= (n.-331C=) c.159C= (p.Ile53=) c.195C= (p.Ile65=) | |
| 11 | g.71444059G>T | CA475520363 | DHCR7 | c.255C>A (p.Ile85=) c.81C>A (p.Ile27=) n.532C>A c.-331C>A (n.-331C>A) c.159C>A (p.Ile53=) c.195C>A (p.Ile65=) | |
| 11 | g.71444060A>C | CA381696290 | DHCR7 | c.254T>G (p.Ile85Ser) c.80T>G (p.Ile27Ser) n.531T>G c.-332T>G (n.-332T>G) c.158T>G (p.Ile53Ser) c.194T>G (p.Ile65Ser) | COSMIC COSMIC |
| 11 | g.71444060A>G | CA381696292 | DHCR7 | c.254T>C (p.Ile85Thr) c.80T>C (p.Ile27Thr) n.531T>C c.-332T>C (n.-332T>C) c.158T>C (p.Ile53Thr) c.194T>C (p.Ile65Thr) | |
| 11 | g.71444060A>T | CA381696295 | DHCR7 | c.254T>A (p.Ile85Asn) c.80T>A (p.Ile27Asn) n.531T>A c.-332T>A (n.-332T>A) c.158T>A (p.Ile53Asn) c.194T>A (p.Ile65Asn) | |
| 11 | g.71444061T>A | CA381696303 | DHCR7 | c.253A>T (p.Ile85Phe) c.79A>T (p.Ile27Phe) n.530A>T c.-333A>T (n.-333A>T) c.157A>T (p.Ile53Phe) c.193A>T (p.Ile65Phe) | |
| 11 | g.71444061T>C | CA381696299 | DHCR7 | c.253A>G (p.Ile85Val) c.79A>G (p.Ile27Val) n.530A>G c.-333A>G (n.-333A>G) c.157A>G (p.Ile53Val) c.193A>G (p.Ile65Val) | gnomAD v4 |
| 11 | g.71444061T>G | CA381696297 | DHCR7 | c.253A>C (p.Ile85Leu) c.79A>C (p.Ile27Leu) n.530A>C c.-333A>C (n.-333A>C) c.157A>C (p.Ile53Leu) c.193A>C (p.Ile65Leu) | |
| 11 | g.71444062G>A | CA6162651 | DHCR7 | c.252C>T (p.Asp84=) c.78C>T (p.Asp26=) n.529C>T c.-333-1C>T (n.-333-1C>T) c.156C>T (p.Asp52=) c.192C>T (p.Asp64=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71444062G>C | CA381696309 | DHCR7 | c.252C>G (p.Asp84Glu) c.78C>G (p.Asp26Glu) n.529C>G c.-333-1C>G (n.-333-1C>G) c.156C>G (p.Asp52Glu) c.192C>G (p.Asp64Glu) | |
| 11 | g.71444062G= | CA1981491041 | DHCR7 | c.252C= (p.Asp84=) c.78C= (p.Asp26=) n.529C= c.-333-1C= (n.-333-1C=) c.156C= (p.Asp52=) c.192C= (p.Asp64=) | |
| 11 | g.71444062G>T | CA381696306 | DHCR7 | c.252C>A (p.Asp84Glu) c.78C>A (p.Asp26Glu) n.529C>A c.-333-1C>A (n.-333-1C>A) c.156C>A (p.Asp52Glu) c.192C>A (p.Asp64Glu) | |
| 11 | g.71444063T>A | CA381696312 | DHCR7 | c.251A>T (p.Asp84Val) c.77A>T (p.Asp26Val) n.528A>T c.-333-2A>T (n.-333-2A>T) c.155A>T (p.Asp52Val) c.191A>T (p.Asp64Val) | |
| 11 | g.71444063T>C | CA6162652 | DHCR7 | c.251A>G (p.Asp84Gly) c.77A>G (p.Asp26Gly) n.528A>G c.-333-2A>G (n.-333-2A>G) c.155A>G (p.Asp52Gly) c.191A>G (p.Asp64Gly) | dbSNP ExAC |
| 11 | g.71444063T>G | CA381696314 | DHCR7 | c.251A>C (p.Asp84Ala) c.77A>C (p.Asp26Ala) n.528A>C c.-333-2A>C (n.-333-2A>C) c.155A>C (p.Asp52Ala) c.191A>C (p.Asp64Ala) | |
| 11 | g.71444063T= | CA1981491042 | DHCR7 | c.251A= (p.Asp84=) c.77A= (p.Asp26=) n.528A= c.-333-2A= (n.-333-2A=) c.155A= (p.Asp52=) c.191A= (p.Asp64=) | |
| 11 | g.71444064C>A | CA381696318 | DHCR7 | c.250G>T (p.Asp84Tyr) c.76G>T (p.Asp26Tyr) n.527G>T c.-333-3G>T (n.-333-3G>T) c.154G>T (p.Asp52Tyr) c.190G>T (p.Asp64Tyr) | |
| 11 | g.71444064C>G | CA381696322 | DHCR7 | c.250G>C (p.Asp84His) c.76G>C (p.Asp26His) n.527G>C c.-333-3G>C (n.-333-3G>C) c.154G>C (p.Asp52His) c.190G>C (p.Asp64His) | |
| 11 | g.71444064C>T | CA381696320 | DHCR7 | c.250G>A (p.Asp84Asn) c.76G>A (p.Asp26Asn) n.527G>A c.-333-3G>A (n.-333-3G>A) c.154G>A (p.Asp52Asn) c.190G>A (p.Asp64Asn) | |
| 11 | g.71444065C>A | CA475520395 | DHCR7 | c.249G>T (p.Ser83=) c.75G>T (p.Ser25=) n.526G>T c.-333-4G>T (n.-333-4G>T) c.153G>T (p.Ser51=) c.189G>T (p.Ser63=) | dbSNP |
| 11 | g.71444065C= | CA1981491043 | DHCR7 | c.249G= (p.Ser83=) c.75G= (p.Ser25=) n.526G= c.-333-4G= (n.-333-4G=) c.153G= (p.Ser51=) c.189G= (p.Ser63=) | |
| 11 | g.71444065C>G | CA475520392 | DHCR7 | c.249G>C (p.Ser83=) c.75G>C (p.Ser25=) n.526G>C c.-333-4G>C (n.-333-4G>C) c.153G>C (p.Ser51=) c.189G>C (p.Ser63=) | |
| 11 | g.71444065C>T | CA6162653 | DHCR7 | c.249G>A (p.Ser83=) c.75G>A (p.Ser25=) n.526G>A c.-333-4G>A (n.-333-4G>A) c.153G>A (p.Ser51=) c.189G>A (p.Ser63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444066G>A | CA6162654 | DHCR7 | c.248C>T (p.Ser83Leu) c.74C>T (p.Ser25Leu) n.525C>T c.-333-5C>T (n.-333-5C>T) c.152C>T (p.Ser51Leu) c.188C>T (p.Ser63Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.71444066G>C | CA381696326 | DHCR7 | c.248C>G (p.Ser83Trp) c.74C>G (p.Ser25Trp) n.525C>G c.-333-5C>G (n.-333-5C>G) c.152C>G (p.Ser51Trp) c.188C>G (p.Ser63Trp) | |
| 11 | g.71444066G= | CA1981491044 | DHCR7 | c.248C= (p.Ser83=) c.74C= (p.Ser25=) n.525C= c.-333-5C= (n.-333-5C=) c.152C= (p.Ser51=) c.188C= (p.Ser63=) | |
| 11 | g.71444066G>T | CA381696328 | DHCR7 | c.248C>A (p.Ser83Ter) c.74C>A (p.Ser25Ter) n.525C>A c.-333-5C>A (n.-333-5C>A) c.152C>A (p.Ser51Ter) c.188C>A (p.Ser63Ter) | ClinVar |
| 11 | g.71444067A>C | CA381696331 | DHCR7 | c.247T>G (p.Ser83Ala) c.73T>G (p.Ser25Ala) n.524T>G c.-333-6T>G (n.-333-6T>G) c.151T>G (p.Ser51Ala) c.187T>G (p.Ser63Ala) | |
| 11 | g.71444067A>G | CA381696333 | DHCR7 | c.247T>C (p.Ser83Pro) c.73T>C (p.Ser25Pro) n.524T>C c.-333-6T>C (n.-333-6T>C) c.151T>C (p.Ser51Pro) c.187T>C (p.Ser63Pro) | |
| 11 | g.71444067A>T | CA381696335 | DHCR7 | c.247T>A (p.Ser83Thr) c.73T>A (p.Ser25Thr) n.524T>A c.-333-6T>A (n.-333-6T>A) c.151T>A (p.Ser51Thr) c.187T>A (p.Ser63Thr) | |
| 11 | g.71444068G>A | CA475520410 | DHCR7 | c.246C>T (p.Leu82=) c.72C>T (p.Leu24=) n.523C>T c.-333-7C>T (n.-333-7C>T) c.150C>T (p.Leu50=) c.186C>T (p.Leu62=) | |
| 11 | g.71444068G>C | CA475520415 | DHCR7 | c.246C>G (p.Leu82=) c.72C>G (p.Leu24=) n.523C>G c.-333-7C>G (n.-333-7C>G) c.150C>G (p.Leu50=) c.186C>G (p.Leu62=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71444068G>T | CA475520412 | DHCR7 | c.246C>A (p.Leu82=) c.72C>A (p.Leu24=) n.523C>A c.-333-7C>A (n.-333-7C>A) c.150C>A (p.Leu50=) c.186C>A (p.Leu62=) | gnomAD v4 |
| 11 | g.71444069A>C | CA381696339 | DHCR7 | c.245T>G (p.Leu82Arg) c.71T>G (p.Leu24Arg) n.522T>G c.-333-8T>G (n.-333-8T>G) c.149T>G (p.Leu50Arg) c.185T>G (p.Leu62Arg) | |
| 11 | g.71444069A>G | CA381696341 | DHCR7 | c.245T>C (p.Leu82Pro) c.71T>C (p.Leu24Pro) n.522T>C c.-333-8T>C (n.-333-8T>C) c.149T>C (p.Leu50Pro) c.185T>C (p.Leu62Pro) | |
| 11 | g.71444069A>T | CA381696343 | DHCR7 | c.245T>A (p.Leu82His) c.71T>A (p.Leu24His) n.522T>A c.-333-8T>A (n.-333-8T>A) c.149T>A (p.Leu50His) c.185T>A (p.Leu62His) | |
| 11 | g.71444070G>A | CA224280824 | DHCR7 | c.244C>T (p.Leu82Phe) c.70C>T (p.Leu24Phe) n.521C>T c.-333-9C>T (n.-333-9C>T) c.148C>T (p.Leu50Phe) c.184C>T (p.Leu62Phe) | dbSNP |
| 11 | g.71444070G>C | CA381696347 | DHCR7 | c.244C>G (p.Leu82Val) c.70C>G (p.Leu24Val) n.521C>G c.-333-9C>G (n.-333-9C>G) c.148C>G (p.Leu50Val) c.184C>G (p.Leu62Val) | |
| 11 | g.71444070G= | CA1981491045 | DHCR7 | c.244C= (p.Leu82=) c.70C= (p.Leu24=) n.521C= c.-333-9C= (n.-333-9C=) c.148C= (p.Leu50=) c.184C= (p.Leu62=) | |
| 11 | g.71444070G>T | CA381696345 | DHCR7 | c.244C>A (p.Leu82Ile) c.70C>A (p.Leu24Ile) n.521C>A c.-333-9C>A (n.-333-9C>A) c.148C>A (p.Leu50Ile) c.184C>A (p.Leu62Ile) | |
| 11 | g.71444071C>A | CA475520425 | DHCR7 | c.243G>T (p.Arg81=) c.69G>T (p.Arg23=) n.520G>T c.-333-10G>T (n.-333-10G>T) c.147G>T (p.Arg49=) c.183G>T (p.Arg61=) | gnomAD v4 |
| 11 | g.71444071C>G | CA475520426 | DHCR7 | c.243G>C (p.Arg81=) c.69G>C (p.Arg23=) n.520G>C c.-333-10G>C (n.-333-10G>C) c.147G>C (p.Arg49=) c.183G>C (p.Arg61=) | |
| 11 | g.71444071C>T | CA475520429 | DHCR7 | c.243G>A (p.Arg81=) c.69G>A (p.Arg23=) n.520G>A c.-333-10G>A (n.-333-10G>A) c.147G>A (p.Arg49=) c.183G>A (p.Arg61=) | gnomAD v4 |
| 11 | g.71444072C>A | CA381696351 | DHCR7 | c.242G>T (p.Arg81Leu) c.68G>T (p.Arg23Leu) n.519G>T c.-333-11G>T (n.-333-11G>T) c.146G>T (p.Arg49Leu) c.182G>T (p.Arg61Leu) | gnomAD v4 |
| 11 | g.71444072C= | CA1981491046 | DHCR7 | c.242G= (p.Arg81=) c.68G= (p.Arg23=) n.519G= c.-333-11G= (n.-333-11G=) c.146G= (p.Arg49=) c.182G= (p.Arg61=) | |
| 11 | g.71444072C>G | CA381696353 | DHCR7 | c.242G>C (p.Arg81Pro) c.68G>C (p.Arg23Pro) n.519G>C c.-333-11G>C (n.-333-11G>C) c.146G>C (p.Arg49Pro) c.182G>C (p.Arg61Pro) | |
| 11 | g.71444072C>T | CA6162655 | DHCR7 | c.242G>A (p.Arg81Gln) c.68G>A (p.Arg23Gln) n.519G>A c.-333-11G>A (n.-333-11G>A) c.146G>A (p.Arg49Gln) c.182G>A (p.Arg61Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444073G>A | CA6162656 | DHCR7 | c.241C>T (p.Arg81Trp) c.67C>T (p.Arg23Trp) n.518C>T c.-333-12C>T (n.-333-12C>T) c.145C>T (p.Arg49Trp) c.181C>T (p.Arg61Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444073G>C | CA6162657 | DHCR7 | c.241C>G (p.Arg81Gly) c.67C>G (p.Arg23Gly) n.518C>G c.-333-12C>G (n.-333-12C>G) c.145C>G (p.Arg49Gly) c.181C>G (p.Arg61Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71444073G= | CA1981491047 | DHCR7 | c.241C= (p.Arg81=) c.67C= (p.Arg23=) n.518C= c.-333-12C= (n.-333-12C=) c.145C= (p.Arg49=) c.181C= (p.Arg61=) | |
| 11 | g.71444073G>T | CA475520438 | DHCR7 | c.241C>A (p.Arg81=) c.67C>A (p.Arg23=) n.518C>A c.-333-12C>A (n.-333-12C>A) c.145C>A (p.Arg49=) c.181C>A (p.Arg61=) | |
| 11 | g.71444074A>C | CA475520447 | DHCR7 | c.240T>G (p.Ala80=) c.66T>G (p.Ala22=) n.517T>G c.-333-13T>G (n.-333-13T>G) c.144T>G (p.Ala48=) c.180T>G (p.Ala60=) | |
| 11 | g.71444074A>G | CA475520448 | DHCR7 | c.240T>C (p.Ala80=) c.66T>C (p.Ala22=) n.517T>C c.-333-13T>C (n.-333-13T>C) c.144T>C (p.Ala48=) c.180T>C (p.Ala60=) | |
| 11 | g.71444074A>T | CA475520451 | DHCR7 | c.240T>A (p.Ala80=) c.66T>A (p.Ala22=) n.517T>A c.-333-13T>A (n.-333-13T>A) c.144T>A (p.Ala48=) c.180T>A (p.Ala60=) | |
| 11 | g.71444075G>A | CA381696356 | DHCR7 | c.239C>T (p.Ala80Val) c.65C>T (p.Ala22Val) n.516C>T c.-333-14C>T (n.-333-14C>T) c.143C>T (p.Ala48Val) c.179C>T (p.Ala60Val) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.71444075G>C | CA381696358 | DHCR7 | c.239C>G (p.Ala80Gly) c.65C>G (p.Ala22Gly) n.516C>G c.-333-14C>G (n.-333-14C>G) c.143C>G (p.Ala48Gly) c.179C>G (p.Ala60Gly) | |
| 11 | g.71444075G= | CA1981491048 | DHCR7 | c.239C= (p.Ala80=) c.65C= (p.Ala22=) n.516C= c.-333-14C= (n.-333-14C=) c.143C= (p.Ala48=) c.179C= (p.Ala60=) | |
| 11 | g.71444075G>T | CA381696359 | DHCR7 | c.239C>A (p.Ala80Asp) c.65C>A (p.Ala22Asp) n.516C>A c.-333-14C>A (n.-333-14C>A) c.143C>A (p.Ala48Asp) c.179C>A (p.Ala60Asp) | gnomAD v4 |
| 11 | g.71444076C>A | CA381696362 | DHCR7 | c.238G>T (p.Ala80Ser) c.64G>T (p.Ala22Ser) n.515G>T c.-333-15G>T (n.-333-15G>T) c.142G>T (p.Ala48Ser) c.178G>T (p.Ala60Ser) | |
| 11 | g.71444076C>G | CA381696364 | DHCR7 | c.238G>C (p.Ala80Pro) c.64G>C (p.Ala22Pro) n.515G>C c.-333-15G>C (n.-333-15G>C) c.142G>C (p.Ala48Pro) c.178G>C (p.Ala60Pro) | |
| 11 | g.71444076C>T | CA381696366 | DHCR7 | c.238G>A (p.Ala80Thr) c.64G>A (p.Ala22Thr) n.515G>A c.-333-15G>A (n.-333-15G>A) c.142G>A (p.Ala48Thr) c.178G>A (p.Ala60Thr) | |
| 11 | g.71444077A= | CA1981491049 | DHCR7 | c.237T= (p.His79=) c.63T= (p.His21=) n.514T= c.-333-16T= (n.-333-16T=) c.141T= (p.His47=) c.177T= (p.His59=) | |
| 11 | g.71444077A>C | CA381696370 | DHCR7 | c.237T>G (p.His79Gln) c.63T>G (p.His21Gln) n.514T>G c.-333-16T>G (n.-333-16T>G) c.141T>G (p.His47Gln) c.177T>G (p.His59Gln) | |
| 11 | g.71444077A>G | CA475520468 | DHCR7 | c.237T>C (p.His79=) c.63T>C (p.His21=) n.514T>C c.-333-16T>C (n.-333-16T>C) c.141T>C (p.His47=) c.177T>C (p.His59=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444077A>T | CA381696368 | DHCR7 | c.237T>A (p.His79Gln) c.63T>A (p.His21Gln) n.514T>A c.-333-16T>A (n.-333-16T>A) c.141T>A (p.His47Gln) c.177T>A (p.His59Gln) | |
| 11 | g.71444078T>A | CA381696372 | DHCR7 | c.236A>T (p.His79Leu) c.62A>T (p.His21Leu) n.513A>T c.-333-17A>T (n.-333-17A>T) c.140A>T (p.His47Leu) c.176A>T (p.His59Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444078T>C | CA381696374 | DHCR7 | c.236A>G (p.His79Arg) c.62A>G (p.His21Arg) n.513A>G c.-333-17A>G (n.-333-17A>G) c.140A>G (p.His47Arg) c.176A>G (p.His59Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71444078T>G | CA381696375 | DHCR7 | c.236A>C (p.His79Pro) c.62A>C (p.His21Pro) n.513A>C c.-333-17A>C (n.-333-17A>C) c.140A>C (p.His47Pro) c.176A>C (p.His59Pro) | |
| 11 | g.71444078T= | CA1981491050 | DHCR7 | c.236A= (p.His79=) c.62A= (p.His21=) n.513A= c.-333-17A= (n.-333-17A=) c.140A= (p.His47=) c.176A= (p.His59=) | |
| 11 | g.71444079G>A | CA381696378 | DHCR7 | c.235C>T (p.His79Tyr) c.61C>T (p.His21Tyr) n.512C>T c.-333-18C>T (n.-333-18C>T) c.139C>T (p.His47Tyr) c.175C>T (p.His59Tyr) | gnomAD v4 |
| 11 | g.71444079G>C | CA381696380 | DHCR7 | c.235C>G (p.His79Asp) c.61C>G (p.His21Asp) n.512C>G c.-333-18C>G (n.-333-18C>G) c.139C>G (p.His47Asp) c.175C>G (p.His59Asp) | |
| 11 | g.71444079G>T | CA381696381 | DHCR7 | c.235C>A (p.His79Asn) c.61C>A (p.His21Asn) n.512C>A c.-333-18C>A (n.-333-18C>A) c.139C>A (p.His47Asn) c.175C>A (p.His59Asn) | |
| 11 | g.71444080T>A | CA475520487 | DHCR7 | c.234A>T (p.Gly78=) c.60A>T (p.Gly20=) n.511A>T c.-333-19A>T (n.-333-19A>T) c.138A>T (p.Gly46=) c.174A>T (p.Gly58=) | |
| 11 | g.71444080T>C | CA475520489 | DHCR7 | c.234A>G (p.Gly78=) c.60A>G (p.Gly20=) n.511A>G c.-333-19A>G (n.-333-19A>G) c.138A>G (p.Gly46=) c.174A>G (p.Gly58=) | gnomAD v4 |
| 11 | g.71444080T>G | CA475520491 | DHCR7 | c.234A>C (p.Gly78=) c.60A>C (p.Gly20=) n.511A>C c.-333-19A>C (n.-333-19A>C) c.138A>C (p.Gly46=) c.174A>C (p.Gly58=) | |
| 11 | g.71444081C>A | CA381696384 | DHCR7 | c.233G>T (p.Gly78Val) c.59G>T (p.Gly20Val) n.510G>T c.-333-20G>T (n.-333-20G>T) c.137G>T (p.Gly46Val) c.173G>T (p.Gly58Val) | gnomAD v4 |
| 11 | g.71444081C= | CA1981491051 | DHCR7 | c.233G= (p.Gly78=) c.59G= (p.Gly20=) n.510G= c.-333-20G= (n.-333-20G=) c.137G= (p.Gly46=) c.173G= (p.Gly58=) | |
| 11 | g.71444081C>G | CA381696386 | DHCR7 | c.233G>C (p.Gly78Ala) c.59G>C (p.Gly20Ala) n.510G>C c.-333-20G>C (n.-333-20G>C) c.137G>C (p.Gly46Ala) c.173G>C (p.Gly58Ala) | gnomAD v4 |
| 11 | g.71444081C>T | CA381696388 | DHCR7 | c.233G>A (p.Gly78Glu) c.59G>A (p.Gly20Glu) n.510G>A c.-333-20G>A (n.-333-20G>A) c.137G>A (p.Gly46Glu) c.173G>A (p.Gly58Glu) | ClinVar dbSNP |
| 11 | g.71444082C>A | CA381696390 | DHCR7 | c.232G>T (p.Gly78Ter) c.58G>T (p.Gly20Ter) n.509G>T c.-333-21G>T (n.-333-21G>T) c.136G>T (p.Gly46Ter) c.172G>T (p.Gly58Ter) | |
| 11 | g.71444082C= | CA1981491052 | DHCR7 | c.232G= (p.Gly78=) c.58G= (p.Gly20=) n.509G= c.-333-21G= (n.-333-21G=) c.136G= (p.Gly46=) c.172G= (p.Gly58=) | |
| 11 | g.71444082C>G | CA381696393 | DHCR7 | c.232G>C (p.Gly78Arg) c.58G>C (p.Gly20Arg) n.509G>C c.-333-21G>C (n.-333-21G>C) c.136G>C (p.Gly46Arg) c.172G>C (p.Gly58Arg) | gnomAD v4 |
| 11 | g.71444082C>T | CA6162658 | DHCR7 | c.232G>A (p.Gly78Arg) c.58G>A (p.Gly20Arg) n.509G>A c.-333-21G>A (n.-333-21G>A) c.136G>A (p.Gly46Arg) c.172G>A (p.Gly58Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444083G>A | CA147245 | DHCR7 | c.231C>T (p.Thr77=) c.57C>T (p.Thr19=) n.508C>T c.-333-22C>T (n.-333-22C>T) c.135C>T (p.Thr45=) c.171C>T (p.Thr57=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444083G>C | CA475520511 | DHCR7 | c.231C>G (p.Thr77=) c.57C>G (p.Thr19=) n.508C>G c.-333-22C>G (n.-333-22C>G) c.135C>G (p.Thr45=) c.171C>G (p.Thr57=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71444083G= | CA1981491053 | DHCR7 | c.231C= (p.Thr77=) c.57C= (p.Thr19=) n.508C= c.-333-22C= (n.-333-22C=) c.135C= (p.Thr45=) c.171C= (p.Thr57=) | |
| 11 | g.71444083G>T | CA475520507 | DHCR7 | c.231C>A (p.Thr77=) c.57C>A (p.Thr19=) n.508C>A c.-333-22C>A (n.-333-22C>A) c.135C>A (p.Thr45=) c.171C>A (p.Thr57=) | gnomAD v4 |
| 11 | g.71444084G>A | CA6162659 | DHCR7 | c.230C>T (p.Thr77Ile) c.56C>T (p.Thr19Ile) n.507C>T c.-333-23C>T (n.-333-23C>T) c.134C>T (p.Thr45Ile) c.170C>T (p.Thr57Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71444084G>C | CA381696398 | DHCR7 | c.230C>G (p.Thr77Ser) c.56C>G (p.Thr19Ser) n.507C>G c.-333-23C>G (n.-333-23C>G) c.134C>G (p.Thr45Ser) c.170C>G (p.Thr57Ser) | |
| 11 | g.71444084G= | CA1981491054 | DHCR7 | c.230C= (p.Thr77=) c.56C= (p.Thr19=) n.507C= c.-333-23C= (n.-333-23C=) c.134C= (p.Thr45=) c.170C= (p.Thr57=) | |
| 11 | g.71444084G>T | CA381696401 | DHCR7 | c.230C>A (p.Thr77Asn) c.56C>A (p.Thr19Asn) n.507C>A c.-333-23C>A (n.-333-23C>A) c.134C>A (p.Thr45Asn) c.170C>A (p.Thr57Asn) | |
| 11 | g.71444085T>A | CA381696405 | DHCR7 | c.229A>T (p.Thr77Ser) c.55A>T (p.Thr19Ser) n.506A>T c.-333-24A>T (n.-333-24A>T) c.133A>T (p.Thr45Ser) c.169A>T (p.Thr57Ser) | |
| 11 | g.71444085T>C | CA381696407 | DHCR7 | c.229A>G (p.Thr77Ala) c.55A>G (p.Thr19Ala) n.506A>G c.-333-24A>G (n.-333-24A>G) c.133A>G (p.Thr45Ala) c.169A>G (p.Thr57Ala) | |
| 11 | g.71444085T>G | CA381696410 | DHCR7 | c.229A>C (p.Thr77Pro) c.55A>C (p.Thr19Pro) n.506A>C c.-333-24A>C (n.-333-24A>C) c.133A>C (p.Thr45Pro) c.169A>C (p.Thr57Pro) | |
| 11 | g.71444086G>A | CA475520520 | DHCR7 | c.228C>T (p.Val76=) c.54C>T (p.Val18=) n.505C>T c.-333-25C>T (n.-333-25C>T) c.132C>T (p.Val44=) c.168C>T (p.Val56=) | ClinVar dbSNP |
| 11 | g.71444086G>C | CA475520521 | DHCR7 | c.228C>G (p.Val76=) c.54C>G (p.Val18=) n.505C>G c.-333-25C>G (n.-333-25C>G) c.132C>G (p.Val44=) c.168C>G (p.Val56=) | |
| 11 | g.71444086G>T | CA475520522 | DHCR7 | c.228C>A (p.Val76=) c.54C>A (p.Val18=) n.505C>A c.-333-25C>A (n.-333-25C>A) c.132C>A (p.Val44=) c.168C>A (p.Val56=) | |
| 11 | g.71444087A>C | CA381696412 | DHCR7 | c.227T>G (p.Val76Gly) c.53T>G (p.Val18Gly) n.504T>G c.-333-26T>G (n.-333-26T>G) c.131T>G (p.Val44Gly) c.167T>G (p.Val56Gly) | |
| 11 | g.71444087A>G | CA381696415 | DHCR7 | c.227T>C (p.Val76Ala) c.53T>C (p.Val18Ala) n.504T>C c.-333-26T>C (n.-333-26T>C) c.131T>C (p.Val44Ala) c.167T>C (p.Val56Ala) | |
| 11 | g.71444087A>T | CA381696416 | DHCR7 | c.227T>A (p.Val76Asp) c.53T>A (p.Val18Asp) n.504T>A c.-333-26T>A (n.-333-26T>A) c.131T>A (p.Val44Asp) c.167T>A (p.Val56Asp) | |
| 11 | g.71444088C>A | CA381696418 | DHCR7 | c.226G>T (p.Val76Phe) c.52G>T (p.Val18Phe) n.503G>T c.-333-27G>T (n.-333-27G>T) c.130G>T (p.Val44Phe) c.166G>T (p.Val56Phe) | |
| 11 | g.71444088C= | CA1981491055 | DHCR7 | c.226G= (p.Val76=) c.52G= (p.Val18=) n.503G= c.-333-27G= (n.-333-27G=) c.130G= (p.Val44=) c.166G= (p.Val56=) | |
| 11 | g.71444088C>G | CA381696421 | DHCR7 | c.226G>C (p.Val76Leu) c.52G>C (p.Val18Leu) n.503G>C c.-333-27G>C (n.-333-27G>C) c.130G>C (p.Val44Leu) c.166G>C (p.Val56Leu) | |
| 11 | g.71444088C>T | CA6162660 | DHCR7 | c.226G>A (p.Val76Ile) c.52G>A (p.Val18Ile) n.503G>A c.-333-27G>A (n.-333-27G>A) c.130G>A (p.Val44Ile) c.166G>A (p.Val56Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444089G>A | CA6162661 | DHCR7 | c.225C>T (p.Ile75=) c.51C>T (p.Ile17=) n.502C>T c.-333-28C>T (n.-333-28C>T) c.129C>T (p.Ile43=) c.165C>T (p.Ile55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71444089G>C | CA381696426 | DHCR7 | c.225C>G (p.Ile75Met) c.51C>G (p.Ile17Met) n.502C>G c.-333-28C>G (n.-333-28C>G) c.129C>G (p.Ile43Met) c.165C>G (p.Ile55Met) | |
| 11 | g.71444089G= | CA1981491056 | DHCR7 | c.225C= (p.Ile75=) c.51C= (p.Ile17=) n.502C= c.-333-28C= (n.-333-28C=) c.129C= (p.Ile43=) c.165C= (p.Ile55=) | |
| 11 | g.71444089G>T | CA475520523 | DHCR7 | c.225C>A (p.Ile75=) c.51C>A (p.Ile17=) n.502C>A c.-333-28C>A (n.-333-28C>A) c.129C>A (p.Ile43=) c.165C>A (p.Ile55=) | |
| 11 | g.71444090A>C | CA381696434 | DHCR7 | c.224T>G (p.Ile75Ser) c.50T>G (p.Ile17Ser) n.501T>G c.-333-29T>G (n.-333-29T>G) c.128T>G (p.Ile43Ser) c.164T>G (p.Ile55Ser) | |
| 11 | g.71444090A>G | CA381696431 | DHCR7 | c.224T>C (p.Ile75Thr) c.50T>C (p.Ile17Thr) n.501T>C c.-333-29T>C (n.-333-29T>C) c.128T>C (p.Ile43Thr) c.164T>C (p.Ile55Thr) | gnomAD v4 |
| 11 | g.71444090A>T | CA381696429 | DHCR7 | c.224T>A (p.Ile75Asn) c.50T>A (p.Ile17Asn) n.501T>A c.-333-29T>A (n.-333-29T>A) c.128T>A (p.Ile43Asn) c.164T>A (p.Ile55Asn) | |
| 11 | g.71444091T>A | CA245187 | DHCR7 | c.223A>T (p.Ile75Phe) c.49A>T (p.Ile17Phe) n.500A>T c.-333-30A>T (n.-333-30A>T) c.127A>T (p.Ile43Phe) c.163A>T (p.Ile55Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444091T>C | CA381696438 | DHCR7 | c.223A>G (p.Ile75Val) c.49A>G (p.Ile17Val) n.500A>G c.-333-30A>G (n.-333-30A>G) c.127A>G (p.Ile43Val) c.163A>G (p.Ile55Val) | gnomAD v4 |
| 11 | g.71444091T>G | CA381696437 | DHCR7 | c.223A>C (p.Ile75Leu) c.49A>C (p.Ile17Leu) n.500A>C c.-333-30A>C (n.-333-30A>C) c.127A>C (p.Ile43Leu) c.163A>C (p.Ile55Leu) | gnomAD v4 |
| 11 | g.71444091T= | CA1981491057 | DHCR7 | c.223A= (p.Ile75=) c.49A= (p.Ile17=) n.500A= c.-333-30A= (n.-333-30A=) c.127A= (p.Ile43=) c.163A= (p.Ile55=) | |
| 11 | g.71444092G>A | CA6162662 | DHCR7 | c.222C>T (p.Asp74=) c.48C>T (p.Asp16=) n.499C>T c.-333-31C>T (n.-333-31C>T) c.126C>T (p.Asp42=) c.162C>T (p.Asp54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444092G>C | CA6162663 | DHCR7 | c.222C>G (p.Asp74Glu) c.48C>G (p.Asp16Glu) n.499C>G c.-333-31C>G (n.-333-31C>G) c.126C>G (p.Asp42Glu) c.162C>G (p.Asp54Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444092G= | CA1981491058 | DHCR7 | c.222C= (p.Asp74=) c.48C= (p.Asp16=) n.499C= c.-333-31C= (n.-333-31C=) c.126C= (p.Asp42=) c.162C= (p.Asp54=) | |
| 11 | g.71444092G>T | CA381696442 | DHCR7 | c.222C>A (p.Asp74Glu) c.48C>A (p.Asp16Glu) n.499C>A c.-333-31C>A (n.-333-31C>A) c.126C>A (p.Asp42Glu) c.162C>A (p.Asp54Glu) | |
| 11 | g.71444093T>A | CA381696445 | DHCR7 | c.221A>T (p.Asp74Val) c.47A>T (p.Asp16Val) n.498A>T c.-333-32A>T (n.-333-32A>T) c.125A>T (p.Asp42Val) c.161A>T (p.Asp54Val) | |
| 11 | g.71444093T>C | CA381696447 | DHCR7 | c.221A>G (p.Asp74Gly) c.47A>G (p.Asp16Gly) n.498A>G c.-333-32A>G (n.-333-32A>G) c.125A>G (p.Asp42Gly) c.161A>G (p.Asp54Gly) | gnomAD v4 |
| 11 | g.71444093T>G | CA224280849 | DHCR7 | c.221A>C (p.Asp74Ala) c.47A>C (p.Asp16Ala) n.498A>C c.-333-32A>C (n.-333-32A>C) c.125A>C (p.Asp42Ala) c.161A>C (p.Asp54Ala) | dbSNP |
| 11 | g.71444093T= | CA1981491059 | DHCR7 | c.221A= (p.Asp74=) c.47A= (p.Asp16=) n.498A= c.-333-32A= (n.-333-32A=) c.125A= (p.Asp42=) c.161A= (p.Asp54=) | |
| 11 | g.71444094C>A | CA381696449 | DHCR7 | c.220G>T (p.Asp74Tyr) c.46G>T (p.Asp16Tyr) n.497G>T c.-333-33G>T (n.-333-33G>T) c.124G>T (p.Asp42Tyr) c.160G>T (p.Asp54Tyr) | |
| 11 | g.71444094C= | CA1981491060 | DHCR7 | c.220G= (p.Asp74=) c.46G= (p.Asp16=) n.497G= c.-333-33G= (n.-333-33G=) c.124G= (p.Asp42=) c.160G= (p.Asp54=) | |
| 11 | g.71444094C>G | CA381696450 | DHCR7 | c.220G>C (p.Asp74His) c.46G>C (p.Asp16His) n.497G>C c.-333-33G>C (n.-333-33G>C) c.124G>C (p.Asp42His) c.160G>C (p.Asp54His) | |
| 11 | g.71444094C>T | CA6162664 | DHCR7 | c.220G>A (p.Asp74Asn) c.46G>A (p.Asp16Asn) n.497G>A c.-333-33G>A (n.-333-33G>A) c.124G>A (p.Asp42Asn) c.160G>A (p.Asp54Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444095C>A | CA475520526 | DHCR7 | c.219G>T (p.Val73=) c.45G>T (p.Val15=) n.496G>T c.-333-34G>T (n.-333-34G>T) c.123G>T (p.Val41=) c.159G>T (p.Val53=) | |
| 11 | g.71444095C>G | CA475520525 | DHCR7 | c.219G>C (p.Val73=) c.45G>C (p.Val15=) n.496G>C c.-333-34G>C (n.-333-34G>C) c.123G>C (p.Val41=) c.159G>C (p.Val53=) | |
| 11 | g.71444095C>T | CA475520524 | DHCR7 | c.219G>A (p.Val73=) c.45G>A (p.Val15=) n.496G>A c.-333-34G>A (n.-333-34G>A) c.123G>A (p.Val41=) c.159G>A (p.Val53=) | gnomAD v4 |
| 11 | g.71444096A>C | CA381696453 | DHCR7 | c.218T>G (p.Val73Gly) c.44T>G (p.Val15Gly) n.495T>G c.-333-35T>G (n.-333-35T>G) c.122T>G (p.Val41Gly) c.158T>G (p.Val53Gly) | |
| 11 | g.71444096A>G | CA381696456 | DHCR7 | c.218T>C (p.Val73Ala) c.44T>C (p.Val15Ala) n.495T>C c.-333-35T>C (n.-333-35T>C) c.122T>C (p.Val41Ala) c.158T>C (p.Val53Ala) | gnomAD v4 |
| 11 | g.71444096A>T | CA381696458 | DHCR7 | c.218T>A (p.Val73Glu) c.44T>A (p.Val15Glu) n.495T>A c.-333-35T>A (n.-333-35T>A) c.122T>A (p.Val41Glu) c.158T>A (p.Val53Glu) | |
| 11 | g.71444097C>A | CA381696461 | DHCR7 | c.217G>T (p.Val73Leu) c.43G>T (p.Val15Leu) n.494G>T c.-333-36G>T (n.-333-36G>T) c.121G>T (p.Val41Leu) c.157G>T (p.Val53Leu) | |
| 11 | g.71444097C>G | CA381696465 | DHCR7 | c.217G>C (p.Val73Leu) c.43G>C (p.Val15Leu) n.494G>C c.-333-36G>C (n.-333-36G>C) c.121G>C (p.Val41Leu) c.157G>C (p.Val53Leu) | |
| 11 | g.71444097C>T | CA381696463 | DHCR7 | c.217G>A (p.Val73Met) c.43G>A (p.Val15Met) n.494G>A c.-333-36G>A (n.-333-36G>A) c.121G>A (p.Val41Met) c.157G>A (p.Val53Met) | |
| 11 | g.71444098C>A | CA475520529 | DHCR7 | c.216G>T (p.Val72=) c.42G>T (p.Val14=) n.493G>T c.-333-37G>T (n.-333-37G>T) c.120G>T (p.Val40=) c.156G>T (p.Val52=) | gnomAD v4 |
| 11 | g.71444098C>G | CA475520528 | DHCR7 | c.216G>C (p.Val72=) c.42G>C (p.Val14=) n.493G>C c.-333-37G>C (n.-333-37G>C) c.120G>C (p.Val40=) c.156G>C (p.Val52=) | |
| 11 | g.71444098C>T | CA475520527 | DHCR7 | c.216G>A (p.Val72=) c.42G>A (p.Val14=) n.493G>A c.-333-37G>A (n.-333-37G>A) c.120G>A (p.Val40=) c.156G>A (p.Val52=) | |
| 11 | g.71444099A>C | CA381696468 | DHCR7 | c.215T>G (p.Val72Gly) c.41T>G (p.Val14Gly) n.492T>G c.-333-38T>G (n.-333-38T>G) c.119T>G (p.Val40Gly) c.155T>G (p.Val52Gly) | |
| 11 | g.71444099A>G | CA381696470 | DHCR7 | c.215T>C (p.Val72Ala) c.41T>C (p.Val14Ala) n.492T>C c.-333-38T>C (n.-333-38T>C) c.119T>C (p.Val40Ala) c.155T>C (p.Val52Ala) | |
| 11 | g.71444099A>T | CA381696472 | DHCR7 | c.215T>A (p.Val72Glu) c.41T>A (p.Val14Glu) n.492T>A c.-333-38T>A (n.-333-38T>A) c.119T>A (p.Val40Glu) c.155T>A (p.Val52Glu) | |
| 11 | g.71444100C>A | CA381696475 | DHCR7 | c.214G>T (p.Val72Leu) c.40G>T (p.Val14Leu) n.491G>T c.-333-39G>T (n.-333-39G>T) c.118G>T (p.Val40Leu) c.154G>T (p.Val52Leu) | |
| 11 | g.71444100C>G | CA381696477 | DHCR7 | c.214G>C (p.Val72Leu) c.40G>C (p.Val14Leu) n.491G>C c.-333-39G>C (n.-333-39G>C) c.118G>C (p.Val40Leu) c.154G>C (p.Val52Leu) | |
| 11 | g.71444100C>T | CA381696479 | DHCR7 | c.214G>A (p.Val72Met) c.40G>A (p.Val14Met) n.491G>A c.-333-39G>A (n.-333-39G>A) c.118G>A (p.Val40Met) c.154G>A (p.Val52Met) | |
| 11 | g.71444101A= | CA1981491062 | DHCR7 | c.213T= (p.Pro71=) c.39T= (p.Pro13=) n.490T= c.-333-40T= (n.-333-40T=) c.117T= (p.Pro39=) c.153T= (p.Pro51=) | |
| 11 | g.71444101A>C | CA475520531 | DHCR7 | c.213T>G (p.Pro71=) c.39T>G (p.Pro13=) n.490T>G c.-333-40T>G (n.-333-40T>G) c.117T>G (p.Pro39=) c.153T>G (p.Pro51=) | ClinVar dbSNP |
| 11 | g.71444101A>G | CA475520533 | DHCR7 | c.213T>C (p.Pro71=) c.39T>C (p.Pro13=) n.490T>C c.-333-40T>C (n.-333-40T>C) c.117T>C (p.Pro39=) c.153T>C (p.Pro51=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444101A>T | CA475520532 | DHCR7 | c.213T>A (p.Pro71=) c.39T>A (p.Pro13=) n.490T>A c.-333-40T>A (n.-333-40T>A) c.117T>A (p.Pro39=) c.153T>A (p.Pro51=) | |
| 11 | g.71444101_71444102delinsAG | CA1981491061 | DHCR7 | c.212_213delinsCT (p.Pro71=) c.38_39delinsCT (p.Pro13=) n.489_490delinsCT c.-333-41_-333-40delinsCT (n.-333-41_-333-40delinsCT) c.116_117delinsCT (p.Pro39=) c.152_153delinsCT (p.Pro51=) | |
| 11 | g.71444102G>A | CA381696481 | DHCR7 | c.212C>T (p.Pro71Leu) c.38C>T (p.Pro13Leu) n.489C>T c.-333-41C>T (n.-333-41C>T) c.116C>T (p.Pro39Leu) c.152C>T (p.Pro51Leu) | |
| 11 | g.71444102G>C | CA381696482 | DHCR7 | c.212C>G (p.Pro71Arg) c.38C>G (p.Pro13Arg) n.489C>G c.-333-41C>G (n.-333-41C>G) c.116C>G (p.Pro39Arg) c.152C>G (p.Pro51Arg) | gnomAD v4 |
| 11 | g.71444102G>T | CA381696484 | DHCR7 | c.212C>A (p.Pro71His) c.38C>A (p.Pro13His) n.489C>A c.-333-41C>A (n.-333-41C>A) c.116C>A (p.Pro39His) c.152C>A (p.Pro51His) | |
| 11 | g.71444104del | CA600241321 | DHCR7 | c.212del (p.Pro71LeufsTer22) c.38del (p.Pro13LeufsTer22) n.489del c.-333-41del (n.-333-41del) c.116del (p.Pro39LeufsTer22) c.212del (p.Pro71LeufsTer?) c.152del (p.Pro51LeufsTer22) | dbSNP gnomAD v2 |
| 11 | g.71444103G>A | CA381696487 | DHCR7 | c.211C>T (p.Pro71Ser) c.37C>T (p.Pro13Ser) n.488C>T c.-333-42C>T (n.-333-42C>T) c.115C>T (p.Pro39Ser) c.151C>T (p.Pro51Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444103G>C | CA381696489 | DHCR7 | c.211C>G (p.Pro71Ala) c.37C>G (p.Pro13Ala) n.488C>G c.-333-42C>G (n.-333-42C>G) c.115C>G (p.Pro39Ala) c.151C>G (p.Pro51Ala) | |
| 11 | g.71444103G= | CA1981491063 | DHCR7 | c.211C= (p.Pro71=) c.37C= (p.Pro13=) n.488C= c.-333-42C= (n.-333-42C=) c.115C= (p.Pro39=) c.151C= (p.Pro51=) | |
| 11 | g.71444103G>T | CA381696486 | DHCR7 | c.211C>A (p.Pro71Thr) c.37C>A (p.Pro13Thr) n.488C>A c.-333-42C>A (n.-333-42C>A) c.115C>A (p.Pro39Thr) c.151C>A (p.Pro51Thr) | |
| 11 | g.71444104G>A | CA6162665 | DHCR7 | c.210C>T (p.Gly70=) c.36C>T (p.Gly12=) n.487C>T c.-333-43C>T (n.-333-43C>T) c.114C>T (p.Gly38=) c.150C>T (p.Gly50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71444104G>C | CA475520534 | DHCR7 | c.210C>G (p.Gly70=) c.36C>G (p.Gly12=) n.487C>G c.-333-43C>G (n.-333-43C>G) c.114C>G (p.Gly38=) c.150C>G (p.Gly50=) | |
| 11 | g.71444104G= | CA1981491064 | DHCR7 | c.210C= (p.Gly70=) c.36C= (p.Gly12=) n.487C= c.-333-43C= (n.-333-43C=) c.114C= (p.Gly38=) c.150C= (p.Gly50=) | |
| 11 | g.71444104G>T | CA475520535 | DHCR7 | c.210C>A (p.Gly70=) c.36C>A (p.Gly12=) n.487C>A c.-333-43C>A (n.-333-43C>A) c.114C>A (p.Gly38=) c.150C>A (p.Gly50=) | gnomAD v4 |
| 11 | g.71444105C>A | CA381696492 | DHCR7 | c.209G>T (p.Gly70Val) c.35G>T (p.Gly12Val) n.486G>T c.-333-44G>T (n.-333-44G>T) c.113G>T (p.Gly38Val) c.149G>T (p.Gly50Val) | dbSNP gnomAD v4 |
| 11 | g.71444105C= | CA1981491065 | DHCR7 | c.209G= (p.Gly70=) c.35G= (p.Gly12=) n.486G= c.-333-44G= (n.-333-44G=) c.113G= (p.Gly38=) c.149G= (p.Gly50=) | |
| 11 | g.71444105C>G | CA381696494 | DHCR7 | c.209G>C (p.Gly70Ala) c.35G>C (p.Gly12Ala) n.486G>C c.-333-44G>C (n.-333-44G>C) c.113G>C (p.Gly38Ala) c.149G>C (p.Gly50Ala) | |
| 11 | g.71444105C>T | CA381696496 | DHCR7 | c.209G>A (p.Gly70Asp) c.35G>A (p.Gly12Asp) n.486G>A c.-333-44G>A (n.-333-44G>A) c.113G>A (p.Gly38Asp) c.149G>A (p.Gly50Asp) | dbSNP gnomAD v4 |
| 11 | g.71444105_71444106del | CA2614863250 | DHCR7 | c.208_209del (p.Gly70ProfsTer?) c.34_35del (p.Gly12ProfsTer?) n.485_486del c.-333-45_-333-44del (n.-333-45_-333-44del) c.112_113del (p.Gly38ProfsTer?) c.148_149del (p.Gly50ProfsTer?) | gnomAD v4 |
| 11 | g.71444105_71444107delinsATG | CA2580084822 | DHCR7 | c.207_209delinsCAT (p.Gly70Ile) c.33_35delinsCAT (p.Gly12Ile) n.484_486delinsCAT c.-333-46_-333-44delinsCAT (n.-333-46_-333-44delinsCAT) c.111_113delinsCAT (p.Gly38Ile) c.147_149delinsCAT (p.Gly50Ile) | ClinVar |
| 11 | g.71444106C>A | CA381696498 | DHCR7 | c.208G>T (p.Gly70Cys) c.34G>T (p.Gly12Cys) n.485G>T c.-333-45G>T (n.-333-45G>T) c.112G>T (p.Gly38Cys) c.148G>T (p.Gly50Cys) | gnomAD v4 |
| 11 | g.71444106C= | CA1981491066 | DHCR7 | c.208G= (p.Gly70=) c.34G= (p.Gly12=) n.485G= c.-333-45G= (n.-333-45G=) c.112G= (p.Gly38=) c.148G= (p.Gly50=) | |
| 11 | g.71444106C>G | CA6162666 | DHCR7 | c.208G>C (p.Gly70Arg) c.34G>C (p.Gly12Arg) n.485G>C c.-333-45G>C (n.-333-45G>C) c.112G>C (p.Gly38Arg) c.148G>C (p.Gly50Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444106C>T | CA233887 | DHCR7 | c.208G>A (p.Gly70Ser) c.34G>A (p.Gly12Ser) n.485G>A c.-333-45G>A (n.-333-45G>A) c.112G>A (p.Gly38Ser) c.148G>A (p.Gly50Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444106_71444107delinsGG | CA2573147617 | DHCR7 | c.207_208delinsCC (p.Gly70Arg) c.33_34delinsCC (p.Gly12Arg) n.484_485delinsCC c.-333-46_-333-45delinsCC (n.-333-46_-333-45delinsCC) c.111_112delinsCC (p.Gly38Arg) c.147_148delinsCC (p.Gly50Arg) | ClinVar dbSNP |
| 11 | g.71444106_71444107delinsTG | CA915948246 | DHCR7 | c.207_208delinsCA (p.Gly70Ser) c.33_34delinsCA (p.Gly12Ser) n.484_485delinsCA c.-333-46_-333-45delinsCA (n.-333-46_-333-45delinsCA) c.111_112delinsCA (p.Gly38Ser) c.147_148delinsCA (p.Gly50Ser) | ClinVar |
| 11 | g.71444107A= | CA1981491067 | DHCR7 | c.207T= (p.Thr69=) c.33T= (p.Thr11=) n.484T= c.-333-46T= (n.-333-46T=) c.111T= (p.Thr37=) c.147T= (p.Thr49=) | |
| 11 | g.71444107A>C | CA475520536 | DHCR7 | c.207T>G (p.Thr69=) c.33T>G (p.Thr11=) n.484T>G c.-333-46T>G (n.-333-46T>G) c.111T>G (p.Thr37=) c.147T>G (p.Thr49=) | dbSNP |
| 11 | g.71444107A>G | CA147242 | DHCR7 | c.207T>C (p.Thr69=) c.33T>C (p.Thr11=) n.484T>C c.-333-46T>C (n.-333-46T>C) c.111T>C (p.Thr37=) c.147T>C (p.Thr49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444107A>T | CA475520537 | DHCR7 | c.207T>A (p.Thr69=) c.33T>A (p.Thr11=) n.484T>A c.-333-46T>A (n.-333-46T>A) c.111T>A (p.Thr37=) c.147T>A (p.Thr49=) | dbSNP gnomAD v4 |
| 11 | g.71444107_71444108insTG | CA2614863283 | DHCR7 | c.206_207insCA (p.Gly70MetfsTer24) c.32_33insCA (p.Gly12MetfsTer24) n.483_484insCA c.-333-47_-333-46insCA (n.-333-47_-333-46insCA) c.110_111insCA (p.Gly38MetfsTer24) c.206_207insCA (p.Gly70MetfsTer?) c.146_147insCA (p.Gly50MetfsTer24) | gnomAD v4 |
| 11 | g.71444108G>A | CA381696505 | DHCR7 | c.206C>T (p.Thr69Ile) c.32C>T (p.Thr11Ile) n.483C>T c.-333-47C>T (n.-333-47C>T) c.110C>T (p.Thr37Ile) c.146C>T (p.Thr49Ile) | |
| 11 | g.71444108G>C | CA381696507 | DHCR7 | c.206C>G (p.Thr69Ser) c.32C>G (p.Thr11Ser) n.483C>G c.-333-47C>G (n.-333-47C>G) c.110C>G (p.Thr37Ser) c.146C>G (p.Thr49Ser) | |
| 11 | g.71444108G>T | CA381696509 | DHCR7 | c.206C>A (p.Thr69Asn) c.32C>A (p.Thr11Asn) n.483C>A c.-333-47C>A (n.-333-47C>A) c.110C>A (p.Thr37Asn) c.146C>A (p.Thr49Asn) | |
| 11 | g.71444109T>A | CA381696512 | DHCR7 | c.205A>T (p.Thr69Ser) c.31A>T (p.Thr11Ser) n.482A>T c.-333-48A>T (n.-333-48A>T) c.109A>T (p.Thr37Ser) c.145A>T (p.Thr49Ser) | |
| 11 | g.71444109T>C | CA381696515 | DHCR7 | c.205A>G (p.Thr69Ala) c.31A>G (p.Thr11Ala) n.482A>G c.-333-48A>G (n.-333-48A>G) c.109A>G (p.Thr37Ala) c.145A>G (p.Thr49Ala) | |
| 11 | g.71444109T>G | CA381696510 | DHCR7 | c.205A>C (p.Thr69Pro) c.31A>C (p.Thr11Pro) n.482A>C c.-333-48A>C (n.-333-48A>C) c.109A>C (p.Thr37Pro) c.145A>C (p.Thr49Pro) | |
| 11 | g.71444110C>A | CA475520539 | DHCR7 | c.204G>T (p.Leu68=) c.30G>T (p.Leu10=) n.481G>T c.-333-49G>T (n.-333-49G>T) c.108G>T (p.Leu36=) c.144G>T (p.Leu48=) | gnomAD v4 |
| 11 | g.71444110C>G | CA475520540 | DHCR7 | c.204G>C (p.Leu68=) c.30G>C (p.Leu10=) n.481G>C c.-333-49G>C (n.-333-49G>C) c.108G>C (p.Leu36=) c.144G>C (p.Leu48=) | |
| 11 | g.71444110C>T | CA475520541 | DHCR7 | c.204G>A (p.Leu68=) c.30G>A (p.Leu10=) n.481G>A c.-333-49G>A (n.-333-49G>A) c.108G>A (p.Leu36=) c.144G>A (p.Leu48=) | |
| 11 | g.71444111A= | CA1981491068 | DHCR7 | c.203T= (p.Leu68=) c.29T= (p.Leu10=) n.480T= c.-333-50T= (n.-333-50T=) c.107T= (p.Leu36=) c.143T= (p.Leu48=) | |
| 11 | g.71444111A>C | CA381696517 | DHCR7 | c.203T>G (p.Leu68Arg) c.29T>G (p.Leu10Arg) n.480T>G c.-333-50T>G (n.-333-50T>G) c.107T>G (p.Leu36Arg) c.143T>G (p.Leu48Arg) | |
| 11 | g.71444111A>G | CA224280858 | DHCR7 | c.203T>C (p.Leu68Pro) c.29T>C (p.Leu10Pro) n.480T>C c.-333-50T>C (n.-333-50T>C) c.107T>C (p.Leu36Pro) c.143T>C (p.Leu48Pro) | dbSNP gnomAD v4 |
| 11 | g.71444111A>T | CA381696522 | DHCR7 | c.203T>A (p.Leu68Gln) c.29T>A (p.Leu10Gln) n.480T>A c.-333-50T>A (n.-333-50T>A) c.107T>A (p.Leu36Gln) c.143T>A (p.Leu48Gln) | |
| 11 | g.71444112G>A | CA475520542 | DHCR7 | c.202C>T (p.Leu68=) c.28C>T (p.Leu10=) n.479C>T c.-333-51C>T (n.-333-51C>T) c.106C>T (p.Leu36=) c.142C>T (p.Leu48=) | |
| 11 | g.71444112G>C | CA381696524 | DHCR7 | c.202C>G (p.Leu68Val) c.28C>G (p.Leu10Val) n.479C>G c.-333-51C>G (n.-333-51C>G) c.106C>G (p.Leu36Val) c.142C>G (p.Leu48Val) | |
| 11 | g.71444112G>T | CA381696525 | DHCR7 | c.202C>A (p.Leu68Met) c.28C>A (p.Leu10Met) n.479C>A c.-333-51C>A (n.-333-51C>A) c.106C>A (p.Leu36Met) c.142C>A (p.Leu48Met) | |
| 11 | g.71444113G>A | CA475520543 | DHCR7 | c.201C>T (p.Ala67=) c.27C>T (p.Ala9=) n.478C>T c.-333-52C>T (n.-333-52C>T) c.105C>T (p.Ala35=) c.141C>T (p.Ala47=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71444113G>C | CA475520544 | DHCR7 | c.201C>G (p.Ala67=) c.27C>G (p.Ala9=) n.478C>G c.-333-52C>G (n.-333-52C>G) c.105C>G (p.Ala35=) c.141C>G (p.Ala47=) | |
| 11 | g.71444113G= | CA1981491069 | DHCR7 | c.201C= (p.Ala67=) c.27C= (p.Ala9=) n.478C= c.-333-52C= (n.-333-52C=) c.105C= (p.Ala35=) c.141C= (p.Ala47=) | |
| 11 | g.71444113G>T | CA475520545 | DHCR7 | c.201C>A (p.Ala67=) c.27C>A (p.Ala9=) n.478C>A c.-333-52C>A (n.-333-52C>A) c.105C>A (p.Ala35=) c.141C>A (p.Ala47=) | |
| 11 | g.71444114G>A | CA381696528 | DHCR7 | c.200C>T (p.Ala67Val) c.26C>T (p.Ala9Val) n.477C>T c.-333-53C>T (n.-333-53C>T) c.104C>T (p.Ala35Val) c.140C>T (p.Ala47Val) | |
| 11 | g.71444114G>C | CA381696526 | DHCR7 | c.200C>G (p.Ala67Gly) c.26C>G (p.Ala9Gly) n.477C>G c.-333-53C>G (n.-333-53C>G) c.104C>G (p.Ala35Gly) c.140C>G (p.Ala47Gly) | |
| 11 | g.71444114G>T | CA381696527 | DHCR7 | c.200C>A (p.Ala67Asp) c.26C>A (p.Ala9Asp) n.477C>A c.-333-53C>A (n.-333-53C>A) c.104C>A (p.Ala35Asp) c.140C>A (p.Ala47Asp) | |
| 11 | g.71444115del | CA2580084824 | DHCR7 | c.199del (p.Ala67ProfsTer2) c.25del (p.Ala9ProfsTer2) n.476del c.-333-54del (n.-333-54del) c.103del (p.Ala35ProfsTer2) c.139del (p.Ala47ProfsTer2) | ClinVar |
| 11 | g.71444115C>A | CA381696529 | DHCR7 | c.199G>T (p.Ala67Ser) c.25G>T (p.Ala9Ser) n.476G>T c.-333-54G>T (n.-333-54G>T) c.103G>T (p.Ala35Ser) c.139G>T (p.Ala47Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.71444115C= | CA1981491070 | DHCR7 | c.199G= (p.Ala67=) c.25G= (p.Ala9=) n.476G= c.-333-54G= (n.-333-54G=) c.103G= (p.Ala35=) c.139G= (p.Ala47=) | |
| 11 | g.71444115C>G | CA381696530 | DHCR7 | c.199G>C (p.Ala67Pro) c.25G>C (p.Ala9Pro) n.476G>C c.-333-54G>C (n.-333-54G>C) c.103G>C (p.Ala35Pro) c.139G>C (p.Ala47Pro) | |
| 11 | g.71444115C>T | CA221662 | DHCR7 | c.199G>A (p.Ala67Thr) c.25G>A (p.Ala9Thr) n.476G>A c.-333-54G>A (n.-333-54G>A) c.103G>A (p.Ala35Thr) c.139G>A (p.Ala47Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444116G>A | CA6162667 | DHCR7 | c.198C>T (p.Cys66=) c.24C>T (p.Cys8=) n.475C>T c.-333-55C>T (n.-333-55C>T) c.102C>T (p.Cys34=) c.138C>T (p.Cys46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444116G>C | CA381696531 | DHCR7 | c.198C>G (p.Cys66Trp) c.24C>G (p.Cys8Trp) n.475C>G c.-333-55C>G (n.-333-55C>G) c.102C>G (p.Cys34Trp) c.138C>G (p.Cys46Trp) | |
| 11 | g.71444116G= | CA1981491071 | DHCR7 | c.198C= (p.Cys66=) c.24C= (p.Cys8=) n.475C= c.-333-55C= (n.-333-55C=) c.102C= (p.Cys34=) c.138C= (p.Cys46=) | |
| 11 | g.71444116G>T | CA381696532 | DHCR7 | c.198C>A (p.Cys66Ter) c.24C>A (p.Cys8Ter) n.475C>A c.-333-55C>A (n.-333-55C>A) c.102C>A (p.Cys34Ter) c.138C>A (p.Cys46Ter) | COSMIC COSMIC |
| 11 | g.71444117C>A | CA381696535 | DHCR7 | c.197G>T (p.Cys66Phe) c.23G>T (p.Cys8Phe) n.474G>T c.-333-56G>T (n.-333-56G>T) c.101G>T (p.Cys34Phe) c.137G>T (p.Cys46Phe) | |
| 11 | g.71444117C>G | CA381696536 | DHCR7 | c.197G>C (p.Cys66Ser) c.23G>C (p.Cys8Ser) n.474G>C c.-333-56G>C (n.-333-56G>C) c.101G>C (p.Cys34Ser) c.137G>C (p.Cys46Ser) | |
| 11 | g.71444117C>T | CA381696534 | DHCR7 | c.197G>A (p.Cys66Tyr) c.23G>A (p.Cys8Tyr) n.474G>A c.-333-56G>A (n.-333-56G>A) c.101G>A (p.Cys34Tyr) c.137G>A (p.Cys46Tyr) | ClinVar dbSNP |
| 11 | g.71444118A= | CA1981491072 | DHCR7 | c.196T= (p.Cys66=) c.22T= (p.Cys8=) n.473T= c.-333-57T= (n.-333-57T=) c.100T= (p.Cys34=) c.136T= (p.Cys46=) | |
| 11 | g.71444118A>C | CA381696544 | DHCR7 | c.196T>G (p.Cys66Gly) c.22T>G (p.Cys8Gly) n.473T>G c.-333-57T>G (n.-333-57T>G) c.100T>G (p.Cys34Gly) c.136T>G (p.Cys46Gly) | |
| 11 | g.71444118A>G | CA381696540 | DHCR7 | c.196T>C (p.Cys66Arg) c.22T>C (p.Cys8Arg) n.473T>C c.-333-57T>C (n.-333-57T>C) c.100T>C (p.Cys34Arg) c.136T>C (p.Cys46Arg) | dbSNP |
| 11 | g.71444118A>T | CA381696541 | DHCR7 | c.196T>A (p.Cys66Ser) c.22T>A (p.Cys8Ser) n.473T>A c.-333-57T>A (n.-333-57T>A) c.100T>A (p.Cys34Ser) c.136T>A (p.Cys46Ser) |