| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32814359C>A | CA363573622 | HLA-DOB | c.604G>T (p.Asp202Tyr) c.2425G>T (p.Asp809Tyr) n.641G>T c.*375G>T (n.*375G>T) | gnomAD v4 |
| 6 | g.32814359C= | CA1619747542 | HLA-DOB | c.604G= (p.Asp202=) c.2425G= (p.Asp809=) n.641G= c.*375G= (n.*375G=) | |
| 6 | g.32814359C>G | CA363573621 | HLA-DOB | c.604G>C (p.Asp202His) c.2425G>C (p.Asp809His) n.641G>C c.*375G>C (n.*375G>C) | |
| 6 | g.32814359C>T | CA136987488 | HLA-DOB | c.604G>A (p.Asp202Asn) c.2425G>A (p.Asp809Asn) n.641G>A c.*375G>A (n.*375G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.32814360G>A | CA3745534 | HLA-DOB | c.603C>T (p.Val201=) c.2424C>T (p.Val808=) n.640C>T c.*374C>T (n.*374C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814360G>C | CA3745533 | HLA-DOB | c.603C>G (p.Val201=) c.2424C>G (p.Val808=) n.640C>G c.*374C>G (n.*374C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814360G= | CA1619747543 | HLA-DOB | c.603C= (p.Val201=) c.2424C= (p.Val808=) n.640C= c.*374C= (n.*374C=) | |
| 6 | g.32814360G>T | CA449747261 | HLA-DOB | c.603C>A (p.Val201=) c.2424C>A (p.Val808=) n.640C>A c.*374C>A (n.*374C>A) | COSMIC |
| 6 | g.32814361A>C | CA363573623 | HLA-DOB | c.602T>G (p.Val201Gly) c.2423T>G (p.Val808Gly) n.639T>G c.*373T>G (n.*373T>G) | |
| 6 | g.32814361A>G | CA363573624 | HLA-DOB | c.602T>C (p.Val201Ala) c.2423T>C (p.Val808Ala) n.639T>C c.*373T>C (n.*373T>C) | |
| 6 | g.32814361A>T | CA363573625 | HLA-DOB | c.602T>A (p.Val201Asp) c.2423T>A (p.Val808Asp) n.639T>A c.*373T>A (n.*373T>A) | |
| 6 | g.32814362C>A | CA363573626 | HLA-DOB | c.601G>T (p.Val201Phe) c.2422G>T (p.Val808Phe) n.638G>T c.*372G>T (n.*372G>T) | |
| 6 | g.32814362C>G | CA363573627 | HLA-DOB | c.601G>C (p.Val201Leu) c.2422G>C (p.Val808Leu) n.638G>C c.*372G>C (n.*372G>C) | |
| 6 | g.32814362C>T | CA363573628 | HLA-DOB | c.601G>A (p.Val201Ile) c.2422G>A (p.Val808Ile) n.638G>A c.*372G>A (n.*372G>A) | |
| 6 | g.32814363A>C | CA449747262 | HLA-DOB | c.600T>G (p.Leu200=) c.2421T>G (p.Leu807=) n.637T>G c.*371T>G (n.*371T>G) | |
| 6 | g.32814363A>G | CA449747263 | HLA-DOB | c.600T>C (p.Leu200=) c.2421T>C (p.Leu807=) n.637T>C c.*371T>C (n.*371T>C) | |
| 6 | g.32814363A>T | CA449747264 | HLA-DOB | c.600T>A (p.Leu200=) c.2421T>A (p.Leu807=) n.637T>A c.*371T>A (n.*371T>A) | |
| 6 | g.32814364A>C | CA363573629 | HLA-DOB | c.599T>G (p.Leu200Arg) c.2420T>G (p.Leu807Arg) n.636T>G c.*370T>G (n.*370T>G) | |
| 6 | g.32814364A>G | CA363573630 | HLA-DOB | c.599T>C (p.Leu200Pro) c.2420T>C (p.Leu807Pro) n.636T>C c.*370T>C (n.*370T>C) | gnomAD v4 |
| 6 | g.32814364A>T | CA363573631 | HLA-DOB | c.599T>A (p.Leu200His) c.2420T>A (p.Leu807His) n.636T>A c.*370T>A (n.*370T>A) | |
| 6 | g.32814365G>A | CA363573632 | HLA-DOB | c.598C>T (p.Leu200Phe) c.2419C>T (p.Leu807Phe) n.635C>T c.*369C>T (n.*369C>T) | dbSNP |
| 6 | g.32814365G>C | CA363573633 | HLA-DOB | c.598C>G (p.Leu200Val) c.2419C>G (p.Leu807Val) n.635C>G c.*369C>G (n.*369C>G) | COSMIC |
| 6 | g.32814365G= | CA1619747544 | HLA-DOB | c.598C= (p.Leu200=) c.2419C= (p.Leu807=) n.635C= c.*369C= (n.*369C=) | |
| 6 | g.32814365G>T | CA3745535 | HLA-DOB | c.598C>A (p.Leu200Ile) c.2419C>A (p.Leu807Ile) n.635C>A c.*369C>A (n.*369C>A) | dbSNP ExAC gnomAD v2 |
| 6 | g.32814366G>A | CA449747265 | HLA-DOB | c.597C>T (p.Cys199=) c.2418C>T (p.Cys806=) n.634C>T c.*368C>T (n.*368C>T) | |
| 6 | g.32814366G>C | CA363573634 | HLA-DOB | c.597C>G (p.Cys199Trp) c.2418C>G (p.Cys806Trp) n.634C>G c.*368C>G (n.*368C>G) | |
| 6 | g.32814366G>T | CA363573635 | HLA-DOB | c.597C>A (p.Cys199Ter) c.2418C>A (p.Cys806Ter) n.634C>A c.*368C>A (n.*368C>A) | |
| 6 | g.32814367C>A | CA363573636 | HLA-DOB | c.596G>T (p.Cys199Phe) c.2417G>T (p.Cys806Phe) n.633G>T c.*367G>T (n.*367G>T) | |
| 6 | g.32814367C>G | CA363573637 | HLA-DOB | c.596G>C (p.Cys199Ser) c.2417G>C (p.Cys806Ser) n.633G>C c.*367G>C (n.*367G>C) | |
| 6 | g.32814367C>T | CA363573638 | HLA-DOB | c.596G>A (p.Cys199Tyr) c.2417G>A (p.Cys806Tyr) n.633G>A c.*367G>A (n.*367G>A) | |
| 6 | g.32814368A>C | CA363573641 | HLA-DOB | c.595T>G (p.Cys199Gly) c.2416T>G (p.Cys806Gly) n.632T>G c.*366T>G (n.*366T>G) | |
| 6 | g.32814368A>G | CA363573639 | HLA-DOB | c.595T>C (p.Cys199Arg) c.2416T>C (p.Cys806Arg) n.632T>C c.*366T>C (n.*366T>C) | |
| 6 | g.32814368A>T | CA363573640 | HLA-DOB | c.595T>A (p.Cys199Ser) c.2416T>A (p.Cys806Ser) n.632T>A c.*366T>A (n.*366T>A) | |
| 6 | g.32814369G>A | CA3745536 | HLA-DOB | c.594C>T (p.Thr198=) c.2415C>T (p.Thr805=) n.631C>T c.*365C>T (n.*365C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814369G>C | CA449747267 | HLA-DOB | c.594C>G (p.Thr198=) c.2415C>G (p.Thr805=) n.631C>G c.*365C>G (n.*365C>G) | |
| 6 | g.32814369G= | CA1619747546 | HLA-DOB | c.594C= (p.Thr198=) c.2415C= (p.Thr805=) n.631C= c.*365C= (n.*365C=) | |
| 6 | g.32814369G>T | CA449747266 | HLA-DOB | c.594C>A (p.Thr198=) c.2415C>A (p.Thr805=) n.631C>A c.*365C>A (n.*365C>A) | |
| 6 | g.32814369_32814371delinsGGT | CA1619747545 | HLA-DOB | c.592_594delinsACC (p.Thr198=) c.2413_2415delinsACC (p.Thr805=) n.629_631delinsACC c.*363_*365delinsACC (n.*363_*365delinsACC) | |
| 6 | g.32814370G>A | CA363573642 | HLA-DOB | c.593C>T (p.Thr198Ile) c.543C>T c.2414C>T (p.Thr805Ile) n.630C>T c.*364C>T (n.*364C>T) | dbSNP gnomAD v4 |
| 6 | g.32814370G>C | CA363573643 | HLA-DOB | c.593C>G (p.Thr198Ser) c.543C>G c.2414C>G (p.Thr805Ser) n.630C>G c.*364C>G (n.*364C>G) | |
| 6 | g.32814370G= | CA1619747547 | HLA-DOB | c.593C= (p.Thr198=) c.543C= c.2414C= (p.Thr805=) n.630C= c.*364C= (n.*364C=) | |
| 6 | g.32814370G>T | CA363573644 | HLA-DOB | c.593C>A (p.Thr198Asn) c.543C>A c.2414C>A (p.Thr805Asn) n.630C>A c.*364C>A (n.*364C>A) | |
| 6 | g.32814372_32814373del | CA3745537 | HLA-DOB | c.592_593del (p.Thr198LeufsTer21) c.542_543del c.2413_2414del (p.Thr805LeufsTer21) n.629_630del c.*363_*364del (n.*363_*364del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814371T>A | CA363573645 | HLA-DOB | c.592A>T (p.Thr198Ser) c.542A>T c.2413A>T (p.Thr805Ser) n.629A>T c.*363A>T (n.*363A>T) | |
| 6 | g.32814371T>C | CA136987503 | HLA-DOB | c.592A>G (p.Thr198Ala) c.542A>G c.2413A>G (p.Thr805Ala) n.629A>G c.*363A>G (n.*363A>G) | dbSNP gnomAD v4 |
| 6 | g.32814371T>G | CA136987504 | HLA-DOB | c.592A>C (p.Thr198Pro) c.542A>C c.2413A>C (p.Thr805Pro) n.629A>C c.*363A>C (n.*363A>C) | dbSNP gnomAD v2 |
| 6 | g.32814371T= | CA1619747548 | HLA-DOB | c.592A= (p.Thr198=) c.542A= c.2413A= (p.Thr805=) n.629A= c.*363A= (n.*363A=) | |
| 6 | g.32814372G>A | CA3745538 | HLA-DOB | c.591C>T (p.Tyr197=) c.541C>T c.2412C>T (p.Tyr804=) n.628C>T c.*362C>T (n.*362C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814372G>C | CA363573646 | HLA-DOB | c.591C>G (p.Tyr197Ter) c.541C>G c.2412C>G (p.Tyr804Ter) n.628C>G c.*362C>G (n.*362C>G) | |
| 6 | g.32814372G= | CA1619747549 | HLA-DOB | c.591C= (p.Tyr197=) c.541C= c.2412C= (p.Tyr804=) n.628C= c.*362C= (n.*362C=) |