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 |
|---|---|---|---|---|---|
| 12 | g.47844982_47844983dup | CA947336708 | VDR | c.1050_1051dup (p.Leu351ArgfsTer2) c.*1052_*1053dup (n.*1052_*1053dup) c.1200_1201dup (p.Leu401ArgfsTer2) c.1119_1120dup (p.Leu374ArgfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844980C>A | CA479696562 | VDR | c.1050G>T (p.Ala350=) c.*1052G>T (n.*1052G>T) c.1200G>T (p.Ala400=) c.1119G>T (p.Ala373=) | |
| 12 | g.47844980C= | CA2034409017 | VDR | c.1050G= (p.Ala350=) c.*1052G= (n.*1052G=) c.1200G= (p.Ala400=) c.1119G= (p.Ala373=) | |
| 12 | g.47844980C>G | CA479696563 | VDR | c.1050G>C (p.Ala350=) c.*1052G>C (n.*1052G>C) c.1200G>C (p.Ala400=) c.1119G>C (p.Ala373=) | |
| 12 | g.47844980C>T | CA6533767 | VDR | c.1050G>A (p.Ala350=) c.*1052G>A (n.*1052G>A) c.1200G>A (p.Ala400=) c.1119G>A (p.Ala373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844981G>A | CA6533768 | VDR | c.1049C>T (p.Ala350Val) c.*1051C>T (n.*1051C>T) c.1199C>T (p.Ala400Val) c.1118C>T (p.Ala373Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844981G>C | CA384514604 | VDR | c.1049C>G (p.Ala350Gly) c.*1051C>G (n.*1051C>G) c.1199C>G (p.Ala400Gly) c.1118C>G (p.Ala373Gly) | |
| 12 | g.47844981G= | CA2034409018 | VDR | c.1049C= (p.Ala350=) c.*1051C= (n.*1051C=) c.1199C= (p.Ala400=) c.1118C= (p.Ala373=) | |
| 12 | g.47844981G>T | CA384514605 | VDR | c.1049C>A (p.Ala350Glu) c.*1051C>A (n.*1051C>A) c.1199C>A (p.Ala400Glu) c.1118C>A (p.Ala373Glu) | |
| 12 | g.47844982C>A | CA384514606 | VDR | c.1048G>T (p.Ala350Ser) c.*1050G>T (n.*1050G>T) c.1198G>T (p.Ala400Ser) c.1117G>T (p.Ala373Ser) | gnomAD v4 |
| 12 | g.47844982C= | CA2034409019 | VDR | c.1048G= (p.Ala350=) c.*1050G= (n.*1050G=) c.1198G= (p.Ala400=) c.1117G= (p.Ala373=) | |
| 12 | g.47844982C>G | CA236506408 | VDR | c.1048G>C (p.Ala350Pro) c.*1050G>C (n.*1050G>C) c.1198G>C (p.Ala400Pro) c.1117G>C (p.Ala373Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844982C>T | CA6533769 | VDR | c.1048G>A (p.Ala350Thr) c.*1050G>A (n.*1050G>A) c.1198G>A (p.Ala400Thr) c.1117G>A (p.Ala373Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844983G>A | CA236506428 | VDR | c.1047C>T (p.Ala349=) c.*1049C>T (n.*1049C>T) c.1197C>T (p.Ala399=) c.1116C>T (p.Ala372=) | dbSNP gnomAD v4 |
| 12 | g.47844983G>C | CA479696567 | VDR | c.1047C>G (p.Ala349=) c.*1049C>G (n.*1049C>G) c.1197C>G (p.Ala399=) c.1116C>G (p.Ala372=) | gnomAD v4 |
| 12 | g.47844983G= | CA2034409020 | VDR | c.1047C= (p.Ala349=) c.*1049C= (n.*1049C=) c.1197C= (p.Ala399=) c.1116C= (p.Ala372=) | |
| 12 | g.47844983G>T | CA479696568 | VDR | c.1047C>A (p.Ala349=) c.*1049C>A (n.*1049C>A) c.1197C>A (p.Ala399=) c.1116C>A (p.Ala372=) | |
| 12 | g.47844984G>A | CA384514607 | VDR | c.1046C>T (p.Ala349Val) c.*1048C>T (n.*1048C>T) c.1196C>T (p.Ala399Val) c.1115C>T (p.Ala372Val) | |
| 12 | g.47844984G>C | CA384514608 | VDR | c.1046C>G (p.Ala349Gly) c.*1048C>G (n.*1048C>G) c.1196C>G (p.Ala399Gly) c.1115C>G (p.Ala372Gly) | |
| 12 | g.47844984G>T | CA384514609 | VDR | c.1046C>A (p.Ala349Asp) c.*1048C>A (n.*1048C>A) c.1196C>A (p.Ala399Asp) c.1115C>A (p.Ala372Asp) | |
| 12 | g.47844985C>A | CA384514610 | VDR | c.1045G>T (p.Ala349Ser) c.*1047G>T (n.*1047G>T) c.1195G>T (p.Ala399Ser) c.1114G>T (p.Ala372Ser) | |
| 12 | g.47844985C= | CA2034409021 | VDR | c.1045G= (p.Ala349=) c.*1047G= (n.*1047G=) c.1195G= (p.Ala399=) c.1114G= (p.Ala372=) | |
| 12 | g.47844985C>G | CA384514611 | VDR | c.1045G>C (p.Ala349Pro) c.*1047G>C (n.*1047G>C) c.1195G>C (p.Ala399Pro) c.1114G>C (p.Ala372Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844985C>T | CA6533770 | VDR | c.1045G>A (p.Ala349Thr) c.*1047G>A (n.*1047G>A) c.1195G>A (p.Ala399Thr) c.1114G>A (p.Ala372Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844986G>A | CA479696569 | VDR | c.1044C>T (p.Asp348=) c.*1046C>T (n.*1046C>T) c.1194C>T (p.Asp398=) c.1113C>T (p.Asp371=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844986G>C | CA384514612 | VDR | c.1044C>G (p.Asp348Glu) c.*1046C>G (n.*1046C>G) c.1194C>G (p.Asp398Glu) c.1113C>G (p.Asp371Glu) | |
| 12 | g.47844986G= | CA2034409022 | VDR | c.1044C= (p.Asp348=) c.*1046C= (n.*1046C=) c.1194C= (p.Asp398=) c.1113C= (p.Asp371=) | |
| 12 | g.47844986G>T | CA384514613 | VDR | c.1044C>A (p.Asp348Glu) c.*1046C>A (n.*1046C>A) c.1194C>A (p.Asp398Glu) c.1113C>A (p.Asp371Glu) | gnomAD v4 |
| 12 | g.47844987T>A | CA384514614 | VDR | c.1043A>T (p.Asp348Val) c.*1045A>T (n.*1045A>T) c.1193A>T (p.Asp398Val) c.1112A>T (p.Asp371Val) | |
| 12 | g.47844987T>C | CA384514616 | VDR | c.1043A>G (p.Asp348Gly) c.*1045A>G (n.*1045A>G) c.1193A>G (p.Asp398Gly) c.1112A>G (p.Asp371Gly) | |
| 12 | g.47844987T>G | CA384514615 | VDR | c.1043A>C (p.Asp348Ala) c.*1045A>C (n.*1045A>C) c.1193A>C (p.Asp398Ala) c.1112A>C (p.Asp371Ala) | |
| 12 | g.47844988C>A | CA384514617 | VDR | c.1042G>T (p.Asp348Tyr) c.*1044G>T (n.*1044G>T) c.1192G>T (p.Asp398Tyr) c.1111G>T (p.Asp371Tyr) | |
| 12 | g.47844988C>G | CA384514618 | VDR | c.1042G>C (p.Asp348His) c.*1044G>C (n.*1044G>C) c.1192G>C (p.Asp398His) c.1111G>C (p.Asp371His) | |
| 12 | g.47844988C>T | CA384514619 | VDR | c.1042G>A (p.Asp348Asn) c.*1044G>A (n.*1044G>A) c.1192G>A (p.Asp398Asn) c.1111G>A (p.Asp371Asn) | |
| 12 | g.47844989C>A | CA384514620 | VDR | c.1041G>T (p.Gln347His) c.*1043G>T (n.*1043G>T) c.1191G>T (p.Gln397His) c.1110G>T (p.Gln370His) | |
| 12 | g.47844989C>G | CA384514621 | VDR | c.1041G>C (p.Gln347His) c.*1043G>C (n.*1043G>C) c.1191G>C (p.Gln397His) c.1110G>C (p.Gln370His) | |
| 12 | g.47844989C>T | CA479696571 | VDR | c.1041G>A (p.Gln347=) c.*1043G>A (n.*1043G>A) c.1191G>A (p.Gln397=) c.1110G>A (p.Gln370=) | |
| 12 | g.47844990T>A | CA384514622 | VDR | c.1040A>T (p.Gln347Leu) c.*1042A>T (n.*1042A>T) c.1190A>T (p.Gln397Leu) c.1109A>T (p.Gln370Leu) | |
| 12 | g.47844990T>C | CA384514623 | VDR | c.1040A>G (p.Gln347Arg) c.*1042A>G (n.*1042A>G) c.1190A>G (p.Gln397Arg) c.1109A>G (p.Gln370Arg) | |
| 12 | g.47844990T>G | CA384514624 | VDR | c.1040A>C (p.Gln347Pro) c.*1042A>C (n.*1042A>C) c.1190A>C (p.Gln397Pro) c.1109A>C (p.Gln370Pro) | |
| 12 | g.47844991G>A | CA384514625 | VDR | c.1039C>T (p.Gln347Ter) c.*1041C>T (n.*1041C>T) c.1189C>T (p.Gln397Ter) c.1108C>T (p.Gln370Ter) | ClinVar gnomAD v4 |
| 12 | g.47844991G>C | CA384514626 | VDR | c.1039C>G (p.Gln347Glu) c.*1041C>G (n.*1041C>G) c.1189C>G (p.Gln397Glu) c.1108C>G (p.Gln370Glu) | |
| 12 | g.47844991G>T | CA384514627 | VDR | c.1039C>A (p.Gln347Lys) c.*1041C>A (n.*1041C>A) c.1189C>A (p.Gln397Lys) c.1108C>A (p.Gln370Lys) | gnomAD v4 |
| 12 | g.47844992C>A | CA479696577 | VDR | c.1038G>T (p.Val346=) c.*1040G>T (n.*1040G>T) c.1188G>T (p.Val396=) c.1107G>T (p.Val369=) | dbSNP |
| 12 | g.47844992C= | CA2034409023 | VDR | c.1038G= (p.Val346=) c.*1040G= (n.*1040G=) c.1188G= (p.Val396=) c.1107G= (p.Val369=) | |
| 12 | g.47844992C>G | CA479696575 | VDR | c.1038G>C (p.Val346=) c.*1040G>C (n.*1040G>C) c.1188G>C (p.Val396=) c.1107G>C (p.Val369=) | |
| 12 | g.47844992C>T | CA479696576 | VDR | c.1038G>A (p.Val346=) c.*1040G>A (n.*1040G>A) c.1188G>A (p.Val396=) c.1107G>A (p.Val369=) | dbSNP gnomAD v2 |
| 12 | g.47844993A>C | CA384514629 | VDR | c.1037T>G (p.Val346Gly) c.*1039T>G (n.*1039T>G) c.1187T>G (p.Val396Gly) c.1106T>G (p.Val369Gly) | gnomAD v4 |
| 12 | g.47844993A>G | CA384514630 | VDR | c.1037T>C (p.Val346Ala) c.*1039T>C (n.*1039T>C) c.1187T>C (p.Val396Ala) c.1106T>C (p.Val369Ala) | |
| 12 | g.47844993A>T | CA384514628 | VDR | c.1037T>A (p.Val346Glu) c.*1039T>A (n.*1039T>A) c.1187T>A (p.Val396Glu) c.1106T>A (p.Val369Glu) |