| 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) |