| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47844974A= | CA1630855598 | VDR | c.1056T= (p.Ile352=) c.*1058T= (n.*1058T=) c.1206T= (p.Ile402=) c.1125T= (p.Ile375=) | |
| 12 | g.47844974A>C | CA384514593 | VDR | c.1056T>G (p.Ile352Met) c.*1058T>G (n.*1058T>G) c.1206T>G (p.Ile402Met) c.1125T>G (p.Ile375Met) | |
| 12 | g.47844974A>G | CA6533764 | VDR | c.1056T>C (p.Ile352=) c.*1058T>C (n.*1058T>C) c.1206T>C (p.Ile402=) c.1125T>C (p.Ile375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844974A>T | CA479696557 | VDR | c.1056T>A (p.Ile352=) c.*1058T>A (n.*1058T>A) c.1206T>A (p.Ile402=) c.1125T>A (p.Ile375=) | dbSNP gnomAD v4 |
| 12 | g.47844975A= | CA2034409014 | VDR | c.1055T= (p.Ile352=) c.*1057T= (n.*1057T=) c.1205T= (p.Ile402=) c.1124T= (p.Ile375=) | |
| 12 | g.47844975A>C | CA384514594 | VDR | c.1055T>G (p.Ile352Ser) c.*1057T>G (n.*1057T>G) c.1205T>G (p.Ile402Ser) c.1124T>G (p.Ile375Ser) | |
| 12 | g.47844975A>G | CA6533765 | VDR | c.1055T>C (p.Ile352Thr) c.*1057T>C (n.*1057T>C) c.1205T>C (p.Ile402Thr) c.1124T>C (p.Ile375Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844975A>T | CA384514595 | VDR | c.1055T>A (p.Ile352Asn) c.*1057T>A (n.*1057T>A) c.1205T>A (p.Ile402Asn) c.1124T>A (p.Ile375Asn) | |
| 12 | g.47844976T>A | CA384514596 | VDR | c.1054A>T (p.Ile352Phe) c.*1056A>T (n.*1056A>T) c.1204A>T (p.Ile402Phe) c.1123A>T (p.Ile375Phe) | |
| 12 | g.47844976T>C | CA384514597 | VDR | c.1054A>G (p.Ile352Val) c.*1056A>G (n.*1056A>G) c.1204A>G (p.Ile402Val) c.1123A>G (p.Ile375Val) | |
| 12 | g.47844976T>G | CA384514598 | VDR | c.1054A>C (p.Ile352Leu) c.*1056A>C (n.*1056A>C) c.1204A>C (p.Ile402Leu) c.1123A>C (p.Ile375Leu) | gnomAD v4 |
| 12 | g.47844977C>A | CA479696558 | VDR | c.1053G>T (p.Leu351=) c.*1055G>T (n.*1055G>T) c.1203G>T (p.Leu401=) c.1122G>T (p.Leu374=) | |
| 12 | g.47844977C= | CA2034409015 | VDR | c.1053G= (p.Leu351=) c.*1055G= (n.*1055G=) c.1203G= (p.Leu401=) c.1122G= (p.Leu374=) | |
| 12 | g.47844977C>G | CA6533766 | VDR | c.1053G>C (p.Leu351=) c.*1055G>C (n.*1055G>C) c.1203G>C (p.Leu401=) c.1122G>C (p.Leu374=) | dbSNP ExAC gnomAD v2 |
| 12 | g.47844977C>T | CA479696559 | VDR | c.1053G>A (p.Leu351=) c.*1055G>A (n.*1055G>A) c.1203G>A (p.Leu401=) c.1122G>A (p.Leu374=) | |
| 12 | g.47844978A= | CA2034409016 | VDR | c.1052T= (p.Leu351=) c.*1054T= (n.*1054T=) c.1202T= (p.Leu401=) c.1121T= (p.Leu374=) | |
| 12 | g.47844978A>C | CA384514599 | VDR | c.1052T>G (p.Leu351Arg) c.*1054T>G (n.*1054T>G) c.1202T>G (p.Leu401Arg) c.1121T>G (p.Leu374Arg) | |
| 12 | g.47844978A>G | CA384514600 | VDR | c.1052T>C (p.Leu351Pro) c.*1054T>C (n.*1054T>C) c.1202T>C (p.Leu401Pro) c.1121T>C (p.Leu374Pro) | |
| 12 | g.47844978A>T | CA384514601 | VDR | c.1052T>A (p.Leu351Gln) c.*1054T>A (n.*1054T>A) c.1202T>A (p.Leu401Gln) c.1121T>A (p.Leu374Gln) | |
| 12 | g.47844979G>A | CA479696561 | VDR | c.1051C>T (p.Leu351=) c.*1053C>T (n.*1053C>T) c.1201C>T (p.Leu401=) c.1120C>T (p.Leu374=) | |
| 12 | g.47844979G>C | CA384514602 | VDR | c.1051C>G (p.Leu351Val) c.*1053C>G (n.*1053C>G) c.1201C>G (p.Leu401Val) c.1120C>G (p.Leu374Val) | |
| 12 | g.47844979G>T | CA384514603 | VDR | c.1051C>A (p.Leu351Met) c.*1053C>A (n.*1053C>A) c.1201C>A (p.Leu401Met) c.1120C>A (p.Leu374Met) | gnomAD v4 |
| 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=) | 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 |