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 |
|---|---|---|---|---|---|
| 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=) | |
| 6 | g.32814372G>T | CA363573647 | HLA-DOB | c.591C>A (p.Tyr197Ter) c.541C>A c.2412C>A (p.Tyr804Ter) n.628C>A c.*362C>A (n.*362C>A) | gnomAD v4 |
| 6 | g.32814373T>A | CA363573648 | HLA-DOB | c.590A>T (p.Tyr197Phe) c.540A>T c.2411A>T (p.Tyr804Phe) n.627A>T c.*361A>T (n.*361A>T) | |
| 6 | g.32814373T>C | CA136987506 | HLA-DOB | c.590A>G (p.Tyr197Cys) c.540A>G c.2411A>G (p.Tyr804Cys) n.627A>G c.*361A>G (n.*361A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32814373T>G | CA363573649 | HLA-DOB | c.590A>C (p.Tyr197Ser) c.540A>C c.2411A>C (p.Tyr804Ser) n.627A>C c.*361A>C (n.*361A>C) | |
| 6 | g.32814373T= | CA1619747550 | HLA-DOB | c.590A= (p.Tyr197=) c.540A= c.2411A= (p.Tyr804=) n.627A= c.*361A= (n.*361A=) | |
| 6 | g.32814374A>C | CA363573650 | HLA-DOB | c.589T>G (p.Tyr197Asp) c.539T>G c.2410T>G (p.Tyr804Asp) n.626T>G c.*360T>G (n.*360T>G) | |
| 6 | g.32814374A>G | CA363573651 | HLA-DOB | c.589T>C (p.Tyr197His) c.539T>C c.2410T>C (p.Tyr804His) n.626T>C c.*360T>C (n.*360T>C) | |
| 6 | g.32814374A>T | CA363573652 | HLA-DOB | c.589T>A (p.Tyr197Asn) c.539T>A c.2410T>A (p.Tyr804Asn) n.626T>A c.*360T>A (n.*360T>A) | |
| 6 | g.32814375G>A | CA449747268 | HLA-DOB | c.588C>T (p.Val196=) c.538C>T c.2409C>T (p.Val803=) n.625C>T c.*359C>T (n.*359C>T) | COSMIC |
| 6 | g.32814375G>C | CA449747269 | HLA-DOB | c.588C>G (p.Val196=) c.538C>G c.2409C>G (p.Val803=) n.625C>G c.*359C>G (n.*359C>G) | |
| 6 | g.32814375G>T | CA449747270 | HLA-DOB | c.588C>A (p.Val196=) c.538C>A c.2409C>A (p.Val803=) n.625C>A c.*359C>A (n.*359C>A) | |
| 6 | g.32814376A= | CA1619747551 | HLA-DOB | c.587T= (p.Val196=) c.537T= c.2408T= (p.Val803=) n.624T= c.*358T= (n.*358T=) | |
| 6 | g.32814376A>C | CA363573653 | HLA-DOB | c.587T>G (p.Val196Gly) c.537T>G c.2408T>G (p.Val803Gly) n.624T>G c.*358T>G (n.*358T>G) | |
| 6 | g.32814376A>G | CA363573654 | HLA-DOB | c.587T>C (p.Val196Ala) c.537T>C c.2408T>C (p.Val803Ala) n.624T>C c.*358T>C (n.*358T>C) | |
| 6 | g.32814376A>T | CA3745539 | HLA-DOB | c.587T>A (p.Val196Asp) c.537T>A c.2408T>A (p.Val803Asp) n.624T>A c.*358T>A (n.*358T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814377C>A | CA363573657 | HLA-DOB | c.586G>T (p.Val196Phe) c.536G>T c.2407G>T (p.Val803Phe) n.623G>T c.*357G>T (n.*357G>T) | |
| 6 | g.32814377C>G | CA363573656 | HLA-DOB | c.586G>C (p.Val196Leu) c.536G>C c.2407G>C (p.Val803Leu) n.623G>C c.*357G>C (n.*357G>C) | |
| 6 | g.32814377C>T | CA363573655 | HLA-DOB | c.586G>A (p.Val196Ile) c.536G>A c.2407G>A (p.Val803Ile) n.623G>A c.*357G>A (n.*357G>A) | |
| 6 | g.32814378A= | CA1619747552 | HLA-DOB | c.585T= (p.His195=) c.535T= c.2406T= (p.His802=) n.622T= c.*356T= (n.*356T=) | |
| 6 | g.32814378A>C | CA363573658 | HLA-DOB | c.585T>G (p.His195Gln) c.535T>G c.2406T>G (p.His802Gln) n.622T>G c.*356T>G (n.*356T>G) | |
| 6 | g.32814378A>G | CA3745540 | HLA-DOB | c.585T>C (p.His195=) c.535T>C c.2406T>C (p.His802=) n.622T>C c.*356T>C (n.*356T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814378A>T | CA363573659 | HLA-DOB | c.585T>A (p.His195Gln) c.535T>A c.2406T>A (p.His802Gln) n.622T>A c.*356T>A (n.*356T>A) | |
| 6 | g.32814379T>A | CA363573660 | HLA-DOB | c.584A>T (p.His195Leu) c.534A>T c.2405A>T (p.His802Leu) n.621A>T c.*355A>T (n.*355A>T) | |
| 6 | g.32814379T>C | CA363573662 | HLA-DOB | c.584A>G (p.His195Arg) c.534A>G c.2405A>G (p.His802Arg) n.621A>G c.*355A>G (n.*355A>G) | dbSNP gnomAD v2 |
| 6 | g.32814379T>G | CA363573661 | HLA-DOB | c.584A>C (p.His195Pro) c.534A>C c.2405A>C (p.His802Pro) n.621A>C c.*355A>C (n.*355A>C) | |
| 6 | g.32814379T= | CA1619747553 | HLA-DOB | c.584A= (p.His195=) c.534A= c.2405A= (p.His802=) n.621A= c.*355A= (n.*355A=) | |
| 6 | g.32814380G>A | CA363573663 | HLA-DOB | c.583C>T (p.His195Tyr) c.533C>T c.2404C>T (p.His802Tyr) n.620C>T c.*354C>T (n.*354C>T) | |
| 6 | g.32814380G>C | CA363573664 | HLA-DOB | c.583C>G (p.His195Asp) c.533C>G c.2404C>G (p.His802Asp) n.620C>G c.*354C>G (n.*354C>G) | |
| 6 | g.32814380G>T | CA363573665 | HLA-DOB | c.583C>A (p.His195Asn) c.533C>A c.2404C>A (p.His802Asn) n.620C>A c.*354C>A (n.*354C>A) | |
| 6 | g.32814381T>A | CA3745541 | HLA-DOB | c.582A>T (p.Gly194=) c.532A>T c.2403A>T (p.Gly801=) n.619A>T c.*353A>T (n.*353A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814381T>C | CA449747271 | HLA-DOB | c.582A>G (p.Gly194=) c.532A>G c.2403A>G (p.Gly801=) n.619A>G c.*353A>G (n.*353A>G) | gnomAD v4 |
| 6 | g.32814381T>G | CA449747272 | HLA-DOB | c.582A>C (p.Gly194=) c.532A>C c.2403A>C (p.Gly801=) n.619A>C c.*353A>C (n.*353A>C) | |
| 6 | g.32814381T= | CA1619747554 | HLA-DOB | c.582A= (p.Gly194=) c.532A= c.2403A= (p.Gly801=) n.619A= c.*353A= (n.*353A=) | |
| 6 | g.32814382C>A | CA363573666 | HLA-DOB | c.581G>T (p.Gly194Val) c.531G>T c.2402G>T (p.Gly801Val) n.618G>T c.*352G>T (n.*352G>T) | |
| 6 | g.32814382C>G | CA363573667 | HLA-DOB | c.581G>C (p.Gly194Ala) c.531G>C c.2402G>C (p.Gly801Ala) n.618G>C c.*352G>C (n.*352G>C) | gnomAD v4 |
| 6 | g.32814382C>T | CA363573668 | HLA-DOB | c.581G>A (p.Gly194Glu) c.531G>A c.2402G>A (p.Gly801Glu) n.618G>A c.*352G>A (n.*352G>A) | |
| 6 | g.32814383C>A | CA363573669 | HLA-DOB | c.580G>T (p.Gly194Ter) c.530G>T c.2401G>T (p.Gly801Ter) n.617G>T c.*351G>T (n.*351G>T) | |
| 6 | g.32814383C= | CA1619747555 | HLA-DOB | c.580G= (p.Gly194=) c.530G= c.2401G= (p.Gly801=) n.617G= c.*351G= (n.*351G=) | |
| 6 | g.32814383C>G | CA363573670 | HLA-DOB | c.580G>C (p.Gly194Arg) c.530G>C c.2401G>C (p.Gly801Arg) n.617G>C c.*351G>C (n.*351G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32814383C>T | CA363573671 | HLA-DOB | c.580G>A (p.Gly194Arg) c.530G>A c.2401G>A (p.Gly801Arg) n.617G>A c.*351G>A (n.*351G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32814384A= | CA1619747556 | HLA-DOB | c.579T= (p.Leu193=) c.529T= c.2400T= (p.Leu800=) n.616T= c.*350T= (n.*350T=) | |
| 6 | g.32814384A>C | CA3745542 | HLA-DOB | c.579T>G (p.Leu193=) c.529T>G c.2400T>G (p.Leu800=) n.616T>G c.*350T>G (n.*350T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814384A>G | CA449747273 | HLA-DOB | c.579T>C (p.Leu193=) c.529T>C c.2400T>C (p.Leu800=) n.616T>C c.*350T>C (n.*350T>C) | |
| 6 | g.32814384A>T | CA449747274 | HLA-DOB | c.579T>A (p.Leu193=) c.529T>A c.2400T>A (p.Leu800=) n.616T>A c.*350T>A (n.*350T>A) | |
| 6 | g.32814385A>C | CA363573674 | HLA-DOB | c.578T>G (p.Leu193Arg) c.528T>G c.2399T>G (p.Leu800Arg) n.615T>G c.*349T>G (n.*349T>G) | gnomAD v4 |
| 6 | g.32814385A>G | CA363573672 | HLA-DOB | c.578T>C (p.Leu193Pro) c.528T>C c.2399T>C (p.Leu800Pro) n.615T>C c.*349T>C (n.*349T>C) | gnomAD v4 |
| 6 | g.32814385A>T | CA363573673 | HLA-DOB | c.578T>A (p.Leu193His) c.528T>A c.2399T>A (p.Leu800His) n.615T>A c.*349T>A (n.*349T>A) | |
| 6 | g.32814386G>A | CA363573675 | HLA-DOB | c.577C>T (p.Leu193Phe) c.527C>T c.2398C>T (p.Leu800Phe) n.614C>T c.*348C>T (n.*348C>T) | gnomAD v4 |
| 6 | g.32814386G>C | CA363573676 | HLA-DOB | c.577C>G (p.Leu193Val) c.527C>G c.2398C>G (p.Leu800Val) n.614C>G c.*348C>G (n.*348C>G) | |
| 6 | g.32814386G>T | CA363573677 | HLA-DOB | c.577C>A (p.Leu193Ile) c.527C>A c.2398C>A (p.Leu800Ile) n.614C>A c.*348C>A (n.*348C>A) | gnomAD v4 |
| 6 | g.32814387T>A | CA363573678 | HLA-DOB | c.576A>T (p.Glu192Asp) c.526A>T c.2397A>T (p.Glu799Asp) n.613A>T c.*347A>T (n.*347A>T) | |
| 6 | g.32814387T>C | CA449747275 | HLA-DOB | c.576A>G (p.Glu192=) c.526A>G c.2397A>G (p.Glu799=) n.613A>G c.*347A>G (n.*347A>G) | |
| 6 | g.32814387T>G | CA363573679 | HLA-DOB | c.576A>C (p.Glu192Asp) c.526A>C c.2397A>C (p.Glu799Asp) n.613A>C c.*347A>C (n.*347A>C) | |
| 6 | g.32814388T>A | CA363573680 | HLA-DOB | c.575A>T (p.Glu192Val) c.525A>T c.2396A>T (p.Glu799Val) n.612A>T c.*346A>T (n.*346A>T) | |
| 6 | g.32814388T>C | CA363573681 | HLA-DOB | c.575A>G (p.Glu192Gly) c.525A>G c.2396A>G (p.Glu799Gly) n.612A>G c.*346A>G (n.*346A>G) | gnomAD v4 |
| 6 | g.32814388T>G | CA363573682 | HLA-DOB | c.575A>C (p.Glu192Ala) c.525A>C c.2396A>C (p.Glu799Ala) n.612A>C c.*346A>C (n.*346A>C) | |
| 6 | g.32814389C>A | CA363573683 | HLA-DOB | c.574G>T (p.Glu192Ter) c.524G>T c.2395G>T (p.Glu799Ter) n.611G>T c.*345G>T (n.*345G>T) | |
| 6 | g.32814389C>G | CA363573684 | HLA-DOB | c.574G>C (p.Glu192Gln) c.524G>C c.2395G>C (p.Glu799Gln) n.611G>C c.*345G>C (n.*345G>C) | |
| 6 | g.32814389C>T | CA363573685 | HLA-DOB | c.574G>A (p.Glu192Lys) c.524G>A c.2395G>A (p.Glu799Lys) n.611G>A c.*345G>A (n.*345G>A) | |
| 6 | g.32814390A>C | CA449747277 | HLA-DOB | c.573T>G (p.Pro191=) c.523T>G c.2394T>G (p.Pro798=) n.610T>G c.*344T>G (n.*344T>G) | |
| 6 | g.32814390A>G | CA449747278 | HLA-DOB | c.573T>C (p.Pro191=) c.523T>C c.2394T>C (p.Pro798=) n.610T>C c.*344T>C (n.*344T>C) | |
| 6 | g.32814390A>T | CA449747276 | HLA-DOB | c.573T>A (p.Pro191=) c.523T>A c.2394T>A (p.Pro798=) n.610T>A c.*344T>A (n.*344T>A) | |
| 6 | g.32814391G>A | CA363573687 | HLA-DOB | c.572C>T (p.Pro191Leu) c.522C>T c.2393C>T (p.Pro798Leu) n.609C>T c.*343C>T (n.*343C>T) | |
| 6 | g.32814391G>C | CA363573688 | HLA-DOB | c.572C>G (p.Pro191Arg) c.522C>G c.2393C>G (p.Pro798Arg) n.609C>G c.*343C>G (n.*343C>G) | |
| 6 | g.32814391G>T | CA363573686 | HLA-DOB | c.572C>A (p.Pro191His) c.522C>A c.2393C>A (p.Pro798His) n.609C>A c.*343C>A (n.*343C>A) | |
| 6 | g.32814392G>A | CA363573689 | HLA-DOB | c.571C>T (p.Pro191Ser) c.521C>T c.2392C>T (p.Pro798Ser) n.608C>T c.*342C>T (n.*342C>T) | |
| 6 | g.32814392G>C | CA363573690 | HLA-DOB | c.571C>G (p.Pro191Ala) c.521C>G c.2392C>G (p.Pro798Ala) n.608C>G c.*342C>G (n.*342C>G) | |
| 6 | g.32814392G>T | CA363573691 | HLA-DOB | c.571C>A (p.Pro191Thr) c.521C>A c.2392C>A (p.Pro798Thr) n.608C>A c.*342C>A (n.*342C>A) | |
| 6 | g.32814393A>C | CA449747281 | HLA-DOB | c.570T>G (p.Thr190=) c.520T>G c.2391T>G (p.Thr797=) n.607T>G c.*341T>G (n.*341T>G) | |
| 6 | g.32814393A>G | CA449747279 | HLA-DOB | c.570T>C (p.Thr190=) c.520T>C c.2391T>C (p.Thr797=) n.607T>C c.*341T>C (n.*341T>C) | |
| 6 | g.32814393A>T | CA449747280 | HLA-DOB | c.570T>A (p.Thr190=) c.520T>A c.2391T>A (p.Thr797=) n.607T>A c.*341T>A (n.*341T>A) | |
| 6 | g.32814394G>A | CA363573692 | HLA-DOB | c.569C>T (p.Thr190Ile) c.519C>T c.2390C>T (p.Thr797Ile) n.606C>T c.*340C>T (n.*340C>T) | |
| 6 | g.32814394G>C | CA363573693 | HLA-DOB | c.569C>G (p.Thr190Ser) c.519C>G c.2390C>G (p.Thr797Ser) n.606C>G c.*340C>G (n.*340C>G) | |
| 6 | g.32814394G>T | CA363573694 | HLA-DOB | c.569C>A (p.Thr190Asn) c.519C>A c.2390C>A (p.Thr797Asn) n.606C>A c.*340C>A (n.*340C>A) | |
| 6 | g.32814395T>A | CA363573695 | HLA-DOB | c.568A>T (p.Thr190Ser) c.518A>T c.2389A>T (p.Thr797Ser) n.605A>T c.*339A>T (n.*339A>T) | |
| 6 | g.32814395T>C | CA363573696 | HLA-DOB | c.568A>G (p.Thr190Ala) c.518A>G c.2389A>G (p.Thr797Ala) n.605A>G c.*339A>G (n.*339A>G) | gnomAD v4 |
| 6 | g.32814395T>G | CA363573697 | HLA-DOB | c.568A>C (p.Thr190Pro) c.518A>C c.2389A>C (p.Thr797Pro) n.605A>C c.*339A>C (n.*339A>C) | |
| 6 | g.32814396C>A | CA363573698 | HLA-DOB | c.567G>T (p.Met189Ile) c.517G>T c.2388G>T (p.Met796Ile) n.604G>T c.*338G>T (n.*338G>T) | |
| 6 | g.32814396C= | CA1619747557 | HLA-DOB | c.567G= (p.Met189=) c.517G= c.2388G= (p.Met796=) n.604G= c.*338G= (n.*338G=) | |
| 6 | g.32814396C>G | CA363573699 | HLA-DOB | c.567G>C (p.Met189Ile) c.517G>C c.2388G>C (p.Met796Ile) n.604G>C c.*338G>C (n.*338G>C) | |
| 6 | g.32814396C>T | CA3745543 | HLA-DOB | c.567G>A (p.Met189Ile) c.517G>A c.2388G>A (p.Met796Ile) n.604G>A c.*338G>A (n.*338G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814397A>C | CA363573701 | HLA-DOB | c.566T>G (p.Met189Arg) c.516T>G c.2387T>G (p.Met796Arg) n.603T>G c.*337T>G (n.*337T>G) | |
| 6 | g.32814397A>G | CA363573702 | HLA-DOB | c.566T>C (p.Met189Thr) c.516T>C c.2387T>C (p.Met796Thr) n.603T>C c.*337T>C (n.*337T>C) | |
| 6 | g.32814397A>T | CA363573700 | HLA-DOB | c.566T>A (p.Met189Lys) c.516T>A c.2387T>A (p.Met796Lys) n.603T>A c.*337T>A (n.*337T>A) | |
| 6 | g.32814398T>A | CA363573703 | HLA-DOB | c.565A>T (p.Met189Leu) c.515A>T c.2386A>T (p.Met796Leu) n.602A>T c.*336A>T (n.*336A>T) | |
| 6 | g.32814398T>C | CA363573704 | HLA-DOB | c.565A>G (p.Met189Val) c.515A>G c.2386A>G (p.Met796Val) n.602A>G c.*336A>G (n.*336A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32814398T>G | CA363573705 | HLA-DOB | c.565A>C (p.Met189Leu) c.515A>C c.2386A>C (p.Met796Leu) n.602A>C c.*336A>C (n.*336A>C) | |
| 6 | g.32814398T= | CA1619747558 | HLA-DOB | c.565A= (p.Met189=) c.515A= c.2386A= (p.Met796=) n.602A= c.*336A= (n.*336A=) | |
| 6 | g.32814399T>A | CA363573706 | HLA-DOB | c.564A>T (p.Glu188Asp) c.514A>T c.2385A>T (p.Glu795Asp) n.601A>T c.*335A>T (n.*335A>T) | |
| 6 | g.32814399T>C | CA449747282 | HLA-DOB | c.564A>G (p.Glu188=) c.514A>G c.2385A>G (p.Glu795=) n.601A>G c.*335A>G (n.*335A>G) | |
| 6 | g.32814399T>G | CA363573707 | HLA-DOB | c.564A>C (p.Glu188Asp) c.514A>C c.2385A>C (p.Glu795Asp) n.601A>C c.*335A>C (n.*335A>C) | |
| 6 | g.32814400T>A | CA363573710 | HLA-DOB | c.563A>T (p.Glu188Val) c.513A>T c.2384A>T (p.Glu795Val) n.600A>T c.*334A>T (n.*334A>T) | |
| 6 | g.32814400T>C | CA363573708 | HLA-DOB | c.563A>G (p.Glu188Gly) c.513A>G c.2384A>G (p.Glu795Gly) n.600A>G c.*334A>G (n.*334A>G) | |
| 6 | g.32814400T>G | CA363573709 | HLA-DOB | c.563A>C (p.Glu188Ala) c.513A>C c.2384A>C (p.Glu795Ala) n.600A>C c.*334A>C (n.*334A>C) | |
| 6 | g.32814401C>A | CA363573711 | HLA-DOB | c.562G>T (p.Glu188Ter) c.512G>T c.2383G>T (p.Glu795Ter) n.599G>T c.*333G>T (n.*333G>T) | |
| 6 | g.32814401C>G | CA363573712 | HLA-DOB | c.562G>C (p.Glu188Gln) c.512G>C c.2383G>C (p.Glu795Gln) n.599G>C c.*333G>C (n.*333G>C) | |
| 6 | g.32814401C>T | CA363573713 | HLA-DOB | c.562G>A (p.Glu188Lys) c.512G>A c.2383G>A (p.Glu795Lys) n.599G>A c.*333G>A (n.*333G>A) | gnomAD v4 |
| 6 | g.32814402T>A | CA449747283 | HLA-DOB | c.561A>T (p.Leu187=) c.511A>T c.2382A>T (p.Leu794=) n.598A>T c.*332A>T (n.*332A>T) | |
| 6 | g.32814402T>C | CA449747284 | HLA-DOB | c.561A>G (p.Leu187=) c.511A>G c.2382A>G (p.Leu794=) n.598A>G c.*332A>G (n.*332A>G) | |
| 6 | g.32814402T>G | CA449747285 | HLA-DOB | c.561A>C (p.Leu187=) c.511A>C c.2382A>C (p.Leu794=) n.598A>C c.*332A>C (n.*332A>C) | |
| 6 | g.32814403A>C | CA363573714 | HLA-DOB | c.560T>G (p.Leu187Arg) c.510T>G c.2381T>G (p.Leu794Arg) n.597T>G c.*331T>G (n.*331T>G) | |
| 6 | g.32814403A>G | CA363573715 | HLA-DOB | c.560T>C (p.Leu187Pro) c.510T>C c.2381T>C (p.Leu794Pro) n.597T>C c.*331T>C (n.*331T>C) | |
| 6 | g.32814403A>T | CA363573716 | HLA-DOB | c.560T>A (p.Leu187Gln) c.510T>A c.2381T>A (p.Leu794Gln) n.597T>A c.*331T>A (n.*331T>A) | |
| 6 | g.32814404G>A | CA449747286 | HLA-DOB | c.559C>T (p.Leu187=) c.509C>T c.2380C>T (p.Leu794=) n.596C>T c.*330C>T (n.*330C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32814404G>C | CA363573717 | HLA-DOB | c.559C>G (p.Leu187Val) c.509C>G c.2380C>G (p.Leu794Val) n.596C>G c.*330C>G (n.*330C>G) | |
| 6 | g.32814404G= | CA1619747559 | HLA-DOB | c.559C= (p.Leu187=) c.509C= c.2380C= (p.Leu794=) n.596C= c.*330C= (n.*330C=) | |
| 6 | g.32814404G>T | CA363573718 | HLA-DOB | c.559C>A (p.Leu187Ile) c.509C>A c.2380C>A (p.Leu794Ile) n.596C>A c.*330C>A (n.*330C>A) | |
| 6 | g.32814405C>A | CA3745544 | HLA-DOB | c.558G>T (p.Met186Ile) c.508G>T c.2379G>T (p.Met793Ile) n.595G>T c.*329G>T (n.*329G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814405C= | CA1619747560 | HLA-DOB | c.558G= (p.Met186=) c.508G= c.2379G= (p.Met793=) n.595G= c.*329G= (n.*329G=) | |
| 6 | g.32814405C>G | CA363573719 | HLA-DOB | c.558G>C (p.Met186Ile) c.508G>C c.2379G>C (p.Met793Ile) n.595G>C c.*329G>C (n.*329G>C) | |
| 6 | g.32814405C>T | CA3745545 | HLA-DOB | c.558G>A (p.Met186Ile) c.508G>A c.2379G>A (p.Met793Ile) n.595G>A c.*329G>A (n.*329G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814406A= | CA1619747561 | HLA-DOB | c.557T= (p.Met186=) c.507T= c.2378T= (p.Met793=) n.594T= c.*328T= (n.*328T=) | |
| 6 | g.32814406A>C | CA363573720 | HLA-DOB | c.557T>G (p.Met186Arg) c.507T>G c.2378T>G (p.Met793Arg) n.594T>G c.*328T>G (n.*328T>G) | |
| 6 | g.32814406A>G | CA3745546 | HLA-DOB | c.557T>C (p.Met186Thr) c.507T>C c.2378T>C (p.Met793Thr) n.594T>C c.*328T>C (n.*328T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814406A>T | CA363573721 | HLA-DOB | c.557T>A (p.Met186Lys) c.507T>A c.2378T>A (p.Met793Lys) n.594T>A c.*328T>A (n.*328T>A) | |
| 6 | g.32814407T>A | CA363573722 | HLA-DOB | c.556A>T (p.Met186Leu) c.506A>T c.2377A>T (p.Met793Leu) n.593A>T c.*327A>T (n.*327A>T) | gnomAD v4 |
| 6 | g.32814407T>C | CA363573723 | HLA-DOB | c.556A>G (p.Met186Val) c.506A>G c.2377A>G (p.Met793Val) n.593A>G c.*327A>G (n.*327A>G) | |
| 6 | g.32814407T>G | CA363573724 | HLA-DOB | c.556A>C (p.Met186Leu) c.506A>C c.2377A>C (p.Met793Leu) n.593A>C c.*327A>C (n.*327A>C) | |
| 6 | g.32814408C>A | CA449747287 | HLA-DOB | c.555G>T (p.Val185=) c.505G>T c.2376G>T (p.Val792=) n.592G>T c.*326G>T (n.*326G>T) | |
| 6 | g.32814408C= | CA1619747562 | HLA-DOB | c.555G= (p.Val185=) c.505G= c.2376G= (p.Val792=) n.592G= c.*326G= (n.*326G=) | |
| 6 | g.32814408C>G | CA136987542 | HLA-DOB | c.555G>C (p.Val185=) c.505G>C c.2376G>C (p.Val792=) n.592G>C c.*326G>C (n.*326G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814408C>T | CA449747288 | HLA-DOB | c.555G>A (p.Val185=) c.505G>A c.2376G>A (p.Val792=) n.592G>A c.*326G>A (n.*326G>A) | gnomAD v4 |
| 6 | g.32814409A= | CA1619747563 | HLA-DOB | c.554T= (p.Val185=) c.504T= c.2375T= (p.Val792=) n.591T= c.*325T= (n.*325T=) | |
| 6 | g.32814409A>C | CA363573725 | HLA-DOB | c.554T>G (p.Val185Gly) c.504T>G c.2375T>G (p.Val792Gly) n.591T>G c.*325T>G (n.*325T>G) | |
| 6 | g.32814409A>G | CA3745547 | HLA-DOB | c.554T>C (p.Val185Ala) c.504T>C c.2375T>C (p.Val792Ala) n.591T>C c.*325T>C (n.*325T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814409A>T | CA363573726 | HLA-DOB | c.554T>A (p.Val185Glu) c.504T>A c.2375T>A (p.Val792Glu) n.591T>A c.*325T>A (n.*325T>A) | |
| 6 | g.32814409_32814410delinsAC | CA1619747564 | HLA-DOB | c.553_554delinsGT (p.Val185=) c.503_504delinsGT c.2374_2375delinsGT (p.Val792=) n.590_591delinsGT c.*324_*325delinsGT (n.*324_*325delinsGT) | |
| 6 | g.32814410C>A | CA363573727 | HLA-DOB | c.553G>T (p.Val185Leu) c.503G>T c.2374G>T (p.Val792Leu) n.590G>T c.*324G>T (n.*324G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814410C= | CA1619747565 | HLA-DOB | c.553G= (p.Val185=) c.503G= c.2374G= (p.Val792=) n.590G= c.*324G= (n.*324G=) | |
| 6 | g.32814410C>G | CA363573728 | HLA-DOB | c.553G>C (p.Val185Leu) c.503G>C c.2374G>C (p.Val792Leu) n.590G>C c.*324G>C (n.*324G>C) | |
| 6 | g.32814410C>T | CA363573729 | HLA-DOB | c.553G>A (p.Val185Met) c.503G>A c.2374G>A (p.Val792Met) n.590G>A c.*324G>A (n.*324G>A) | dbSNP gnomAD v4 |
| 6 | g.32814411del | CA566697930 | HLA-DOB | c.553del (p.Val185Ter) c.503del c.2374del (p.Val792Ter) n.590del c.*324del (n.*324del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32814411C>A | CA449747291 | HLA-DOB | c.552G>T (p.Val184=) c.502G>T c.2373G>T (p.Val791=) n.589G>T c.*323G>T (n.*323G>T) | |
| 6 | g.32814411C>G | CA449747290 | HLA-DOB | c.552G>C (p.Val184=) c.502G>C c.2373G>C (p.Val791=) n.589G>C c.*323G>C (n.*323G>C) | |
| 6 | g.32814411C>T | CA449747289 | HLA-DOB | c.552G>A (p.Val184=) c.502G>A c.2373G>A (p.Val791=) n.589G>A c.*323G>A (n.*323G>A) | |
| 6 | g.32814412A= | CA1619747566 | HLA-DOB | c.551T= (p.Val184=) c.501T= c.2372T= (p.Val791=) n.588T= c.*322T= (n.*322T=) | |
| 6 | g.32814412A>C | CA363573731 | HLA-DOB | c.551T>G (p.Val184Gly) c.501T>G c.2372T>G (p.Val791Gly) n.588T>G c.*322T>G (n.*322T>G) | |
| 6 | g.32814412A>G | CA3745548 | HLA-DOB | c.551T>C (p.Val184Ala) c.501T>C c.2372T>C (p.Val791Ala) n.588T>C c.*322T>C (n.*322T>C) | dbSNP ExAC gnomAD v2 |
| 6 | g.32814412A>T | CA363573730 | HLA-DOB | c.551T>A (p.Val184Glu) c.501T>A c.2372T>A (p.Val791Glu) n.588T>A c.*322T>A (n.*322T>A) | |
| 6 | g.32814413C>A | CA363573732 | HLA-DOB | c.550G>T (p.Val184Leu) c.500G>T c.2371G>T (p.Val791Leu) n.587G>T c.*321G>T (n.*321G>T) | |
| 6 | g.32814413C>G | CA363573733 | HLA-DOB | c.550G>C (p.Val184Leu) c.500G>C c.2371G>C (p.Val791Leu) n.587G>C c.*321G>C (n.*321G>C) | gnomAD v3 gnomAD v4 |
| 6 | g.32814413C>T | CA363573734 | HLA-DOB | c.550G>A (p.Val184Met) c.500G>A c.2371G>A (p.Val791Met) n.587G>A c.*321G>A (n.*321G>A) | |
| 6 | g.32814414A>C | CA449747292 | HLA-DOB | c.549T>G (p.Thr183=) c.499T>G c.2370T>G (p.Thr790=) n.586T>G c.*320T>G (n.*320T>G) | |
| 6 | g.32814414A>G | CA449747293 | HLA-DOB | c.549T>C (p.Thr183=) c.499T>C c.2370T>C (p.Thr790=) n.586T>C c.*320T>C (n.*320T>C) | gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.32814414A>T | CA449747294 | HLA-DOB | c.549T>A (p.Thr183=) c.499T>A c.2370T>A (p.Thr790=) n.586T>A c.*320T>A (n.*320T>A) | |
| 6 | g.32814415G>A | CA363573735 | HLA-DOB | c.548C>T (p.Thr183Ile) c.498C>T c.2369C>T (p.Thr790Ile) n.585C>T c.*319C>T (n.*319C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32814415G>C | CA136987559 | HLA-DOB | c.548C>G (p.Thr183Ser) c.498C>G c.2369C>G (p.Thr790Ser) n.585C>G c.*319C>G (n.*319C>G) | dbSNP |
| 6 | g.32814415G= | CA1619747567 | HLA-DOB | c.548C= (p.Thr183=) c.498C= c.2369C= (p.Thr790=) n.585C= c.*319C= (n.*319C=) | |
| 6 | g.32814415G>T | CA363573736 | HLA-DOB | c.548C>A (p.Thr183Asn) c.498C>A c.2369C>A (p.Thr790Asn) n.585C>A c.*319C>A (n.*319C>A) | |
| 6 | g.32814416T>A | CA363573737 | HLA-DOB | c.547A>T (p.Thr183Ser) c.497A>T c.2368A>T (p.Thr790Ser) n.584A>T c.*318A>T (n.*318A>T) | |
| 6 | g.32814416T>C | CA363573738 | HLA-DOB | c.547A>G (p.Thr183Ala) c.497A>G c.2368A>G (p.Thr790Ala) n.584A>G c.*318A>G (n.*318A>G) | |
| 6 | g.32814416T>G | CA363573739 | HLA-DOB | c.547A>C (p.Thr183Pro) c.497A>C c.2368A>C (p.Thr790Pro) n.584A>C c.*318A>C (n.*318A>C) | |
| 6 | g.32814417C>A | CA363573740 | HLA-DOB | c.546G>T (p.Gln182His) c.496G>T c.2367G>T (p.Gln789His) n.583G>T c.*317G>T (n.*317G>T) | |
| 6 | g.32814417C>G | CA363573741 | HLA-DOB | c.546G>C (p.Gln182His) c.496G>C c.2367G>C (p.Gln789His) n.583G>C c.*317G>C (n.*317G>C) | |
| 6 | g.32814417C>T | CA449747295 | HLA-DOB | c.546G>A (p.Gln182=) c.496G>A c.2367G>A (p.Gln789=) n.583G>A c.*317G>A (n.*317G>A) | |
| 6 | g.32814418T>A | CA363573744 | HLA-DOB | c.545A>T (p.Gln182Leu) c.495A>T c.2366A>T (p.Gln789Leu) n.582A>T c.*316A>T (n.*316A>T) | |
| 6 | g.32814418T>C | CA363573743 | HLA-DOB | c.545A>G (p.Gln182Arg) c.495A>G c.2366A>G (p.Gln789Arg) n.582A>G c.*316A>G (n.*316A>G) | gnomAD v4 |
| 6 | g.32814418T>G | CA363573742 | HLA-DOB | c.545A>C (p.Gln182Pro) c.495A>C c.2366A>C (p.Gln789Pro) n.582A>C c.*316A>C (n.*316A>C) | |
| 6 | g.32814419G>A | CA363573745 | HLA-DOB | c.544C>T (p.Gln182Ter) c.494C>T c.2365C>T (p.Gln789Ter) n.581C>T c.*315C>T (n.*315C>T) | dbSNP |
| 6 | g.32814419G>C | CA363573746 | HLA-DOB | c.544C>G (p.Gln182Glu) c.494C>G c.2365C>G (p.Gln789Glu) n.581C>G c.*315C>G (n.*315C>G) | |
| 6 | g.32814419G>T | CA363573747 | HLA-DOB | c.544C>A (p.Gln182Lys) c.494C>A c.2365C>A (p.Gln789Lys) n.581C>A c.*315C>A (n.*315C>A) | |
| 6 | g.32814419_32814420delinsGA | CA1619747568 | HLA-DOB | c.543_544delinsTC (p.Phe181=) c.493_494delinsTC c.2364_2365delinsTC (p.Phe788=) n.580_581delinsTC c.*314_*315delinsTC (n.*314_*315delinsTC) | |
| 6 | g.32814420_32814423del | CA2770554629 | HLA-DOB | c.541_544del (p.Phe181ArgfsTer4) c.491_494del c.2362_2365del (p.Phe788ArgfsTer4) n.578_581del c.*312_*315del (n.*312_*315del) | |
| 6 | g.32814420A>C | CA363573748 | HLA-DOB | c.543T>G (p.Phe181Leu) c.493T>G c.2364T>G (p.Phe788Leu) n.580T>G c.*314T>G (n.*314T>G) | |
| 6 | g.32814420A>G | CA449747296 | HLA-DOB | c.543T>C (p.Phe181=) c.493T>C c.2364T>C (p.Phe788=) n.580T>C c.*314T>C (n.*314T>C) | |
| 6 | g.32814420A>T | CA363573749 | HLA-DOB | c.543T>A (p.Phe181Leu) c.493T>A c.2364T>A (p.Phe788Leu) n.580T>A c.*314T>A (n.*314T>A) | |
| 6 | g.32814422del | CA1619747569 | HLA-DOB | c.543del (p.Gln182ArgfsTer4) c.493del c.2364del (p.Gln789ArgfsTer4) n.580del c.*314del (n.*314del) | dbSNP |
| 6 | g.32814421A>C | CA363573752 | HLA-DOB | c.542T>G (p.Phe181Cys) c.492T>G c.2363T>G (p.Phe788Cys) n.579T>G c.*313T>G (n.*313T>G) | gnomAD v4 |
| 6 | g.32814421A>G | CA363573751 | HLA-DOB | c.542T>C (p.Phe181Ser) c.492T>C c.2363T>C (p.Phe788Ser) n.579T>C c.*313T>C (n.*313T>C) | |
| 6 | g.32814421A>T | CA363573750 | HLA-DOB | c.542T>A (p.Phe181Tyr) c.492T>A c.2363T>A (p.Phe788Tyr) n.579T>A c.*313T>A (n.*313T>A) | |
| 6 | g.32814422A= | CA1619747570 | HLA-DOB | c.541T= (p.Phe181=) c.491T= c.2362T= (p.Phe788=) n.578T= c.*312T= (n.*312T=) | |
| 6 | g.32814422A>C | CA363573753 | HLA-DOB | c.541T>G (p.Phe181Val) c.491T>G c.2362T>G (p.Phe788Val) n.578T>G c.*312T>G (n.*312T>G) | |
| 6 | g.32814422A>G | CA363573754 | HLA-DOB | c.541T>C (p.Phe181Leu) c.491T>C c.2362T>C (p.Phe788Leu) n.578T>C c.*312T>C (n.*312T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.32814422A>T | CA363573755 | HLA-DOB | c.541T>A (p.Phe181Ile) c.491T>A c.2362T>A (p.Phe788Ile) n.578T>A c.*312T>A (n.*312T>A) | |
| 6 | g.32814423G>A | CA449747297 | HLA-DOB | c.540C>T (p.Thr180=) c.490C>T c.2361C>T (p.Thr787=) n.577C>T c.*311C>T (n.*311C>T) | |
| 6 | g.32814423G>C | CA449747298 | HLA-DOB | c.540C>G (p.Thr180=) c.490C>G c.2361C>G (p.Thr787=) n.577C>G c.*311C>G (n.*311C>G) | |
| 6 | g.32814423G>T | CA449747299 | HLA-DOB | c.540C>A (p.Thr180=) c.490C>A c.2361C>A (p.Thr787=) n.577C>A c.*311C>A (n.*311C>A) | |
| 6 | g.32814424G>A | CA363573756 | HLA-DOB | c.539C>T (p.Thr180Ile) c.489C>T c.2360C>T (p.Thr787Ile) n.576C>T c.*310C>T (n.*310C>T) | gnomAD v4 |
| 6 | g.32814424G>C | CA363573757 | HLA-DOB | c.539C>G (p.Thr180Ser) c.489C>G c.2360C>G (p.Thr787Ser) n.576C>G c.*310C>G (n.*310C>G) | gnomAD v4 |
| 6 | g.32814424G>T | CA363573758 | HLA-DOB | c.539C>A (p.Thr180Asn) c.489C>A c.2360C>A (p.Thr787Asn) n.576C>A c.*310C>A (n.*310C>A) | gnomAD v4 |
| 6 | g.32814425T>A | CA363573759 | HLA-DOB | c.538A>T (p.Thr180Ser) c.488A>T c.2359A>T (p.Thr787Ser) n.575A>T c.*309A>T (n.*309A>T) | |
| 6 | g.32814425T>C | CA363573761 | HLA-DOB | c.538A>G (p.Thr180Ala) c.488A>G c.2359A>G (p.Thr787Ala) n.575A>G c.*309A>G (n.*309A>G) | |
| 6 | g.32814425T>G | CA363573760 | HLA-DOB | c.538A>C (p.Thr180Pro) c.488A>C c.2359A>C (p.Thr787Pro) n.575A>C c.*309A>C (n.*309A>C) | |
| 6 | g.32814426C>A | CA363573762 | HLA-DOB | c.537G>T (p.Trp179Cys) c.487G>T c.2358G>T (p.Trp786Cys) n.574G>T c.*308G>T (n.*308G>T) | gnomAD v4 |
| 6 | g.32814426C>G | CA363573763 | HLA-DOB | c.537G>C (p.Trp179Cys) c.487G>C c.2358G>C (p.Trp786Cys) n.574G>C c.*308G>C (n.*308G>C) | |
| 6 | g.32814426C>T | CA363573764 | HLA-DOB | c.537G>A (p.Trp179Ter) c.487G>A c.2358G>A (p.Trp786Ter) n.574G>A c.*308G>A (n.*308G>A) | |
| 6 | g.32814426_32814428delinsCCA | CA1619747571 | HLA-DOB | c.535_537delinsTGG (p.Trp179=) c.485_487delinsTGG c.2356_2358delinsTGG (p.Trp786=) n.572_574delinsTGG c.*306_*308delinsTGG (n.*306_*308delinsTGG) | |
| 6 | g.32814427C>A | CA363573765 | HLA-DOB | c.536G>T (p.Trp179Leu) c.486G>T c.2357G>T (p.Trp786Leu) n.573G>T c.*307G>T (n.*307G>T) | |
| 6 | g.32814427C>G | CA363573766 | HLA-DOB | c.536G>C (p.Trp179Ser) c.486G>C c.2357G>C (p.Trp786Ser) n.573G>C c.*307G>C (n.*307G>C) | |
| 6 | g.32814427C>T | CA363573767 | HLA-DOB | c.536G>A (p.Trp179Ter) c.486G>A c.2357G>A (p.Trp786Ter) n.573G>A c.*307G>A (n.*307G>A) | |
| 6 | g.32814427_32814428del | CA1619747572 | HLA-DOB | c.535_536del (p.Trp179AspfsTer13) c.485_486del c.2356_2357del (p.Trp786AspfsTer13) n.572_573del c.*306_*307del (n.*306_*307del) | dbSNP |
| 6 | g.32814428A>C | CA363573768 | HLA-DOB | c.535T>G (p.Trp179Gly) c.485T>G c.2356T>G (p.Trp786Gly) n.572T>G c.*306T>G (n.*306T>G) | |
| 6 | g.32814428A>G | CA363573769 | HLA-DOB | c.535T>C (p.Trp179Arg) c.485T>C c.2356T>C (p.Trp786Arg) n.572T>C c.*306T>C (n.*306T>C) | |
| 6 | g.32814428A>T | CA363573770 | HLA-DOB | c.535T>A (p.Trp179Arg) c.485T>A c.2356T>A (p.Trp786Arg) n.572T>A c.*306T>A (n.*306T>A) | |
| 6 | g.32814429G>A | CA449747300 | HLA-DOB | c.534C>T (p.Asp178=) c.484C>T c.2355C>T (p.Asp785=) n.571C>T c.*305C>T (n.*305C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814429G>C | CA363573771 | HLA-DOB | c.534C>G (p.Asp178Glu) c.484C>G c.2355C>G (p.Asp785Glu) n.571C>G c.*305C>G (n.*305C>G) | |
| 6 | g.32814429G= | CA1619747573 | HLA-DOB | c.534C= (p.Asp178=) c.484C= c.2355C= (p.Asp785=) n.571C= c.*305C= (n.*305C=) | |
| 6 | g.32814429G>T | CA363573772 | HLA-DOB | c.534C>A (p.Asp178Glu) c.484C>A c.2355C>A (p.Asp785Glu) n.571C>A c.*305C>A (n.*305C>A) | |
| 6 | g.32814430T>A | CA363573774 | HLA-DOB | c.533A>T (p.Asp178Val) c.483A>T c.2354A>T (p.Asp785Val) n.570A>T c.*304A>T (n.*304A>T) | |
| 6 | g.32814430T>C | CA363573775 | HLA-DOB | c.533A>G (p.Asp178Gly) c.483A>G c.2354A>G (p.Asp785Gly) n.570A>G c.*304A>G (n.*304A>G) | |
| 6 | g.32814430T>G | CA363573773 | HLA-DOB | c.533A>C (p.Asp178Ala) c.483A>C c.2354A>C (p.Asp785Ala) n.570A>C c.*304A>C (n.*304A>C) | |
| 6 | g.32814431C>A | CA363573776 | HLA-DOB | c.532G>T (p.Asp178Tyr) c.482G>T c.2353G>T (p.Asp785Tyr) n.569G>T c.*303G>T (n.*303G>T) | |
| 6 | g.32814431C>G | CA363573778 | HLA-DOB | c.532G>C (p.Asp178His) c.482G>C c.2353G>C (p.Asp785His) n.569G>C c.*303G>C (n.*303G>C) | |
| 6 | g.32814431C>T | CA363573777 | HLA-DOB | c.532G>A (p.Asp178Asn) c.482G>A c.2353G>A (p.Asp785Asn) n.569G>A c.*303G>A (n.*303G>A) | |
| 6 | g.32814432T>A | CA449747302 | HLA-DOB | c.531A>T (p.Gly177=) c.481A>T c.2352A>T (p.Gly784=) n.568A>T c.*302A>T (n.*302A>T) | |
| 6 | g.32814432T>C | CA3745549 | HLA-DOB | c.531A>G (p.Gly177=) c.481A>G c.2352A>G (p.Gly784=) n.568A>G c.*302A>G (n.*302A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814432T>G | CA449747301 | HLA-DOB | c.531A>C (p.Gly177=) c.481A>C c.2352A>C (p.Gly784=) n.568A>C c.*302A>C (n.*302A>C) | |
| 6 | g.32814432T= | CA1619747574 | HLA-DOB | c.531A= (p.Gly177=) c.481A= c.2352A= (p.Gly784=) n.568A= c.*302A= (n.*302A=) | |
| 6 | g.32814433C>A | CA363573780 | HLA-DOB | c.530G>T (p.Gly177Val) c.480G>T c.2351G>T (p.Gly784Val) n.567G>T c.*301G>T (n.*301G>T) | |
| 6 | g.32814433C>G | CA363573779 | HLA-DOB | c.530G>C (p.Gly177Ala) c.480G>C c.2351G>C (p.Gly784Ala) n.567G>C c.*301G>C (n.*301G>C) | |
| 6 | g.32814433C>T | CA363573781 | HLA-DOB | c.530G>A (p.Gly177Glu) c.480G>A c.2351G>A (p.Gly784Glu) n.567G>A c.*301G>A (n.*301G>A) | gnomAD v4 |
| 6 | g.32814434C>A | CA363573782 | HLA-DOB | c.529G>T (p.Gly177Ter) c.479G>T c.2350G>T (p.Gly784Ter) n.566G>T c.*300G>T (n.*300G>T) | |
| 6 | g.32814434C>G | CA363573783 | HLA-DOB | c.529G>C (p.Gly177Arg) c.479G>C c.2350G>C (p.Gly784Arg) n.566G>C c.*300G>C (n.*300G>C) | |
| 6 | g.32814434C>T | CA363573784 | HLA-DOB | c.529G>A (p.Gly177Arg) c.479G>A c.2350G>A (p.Gly784Arg) n.566G>A c.*300G>A (n.*300G>A) | |
| 6 | g.32814435A>C | CA363573785 | HLA-DOB | c.528T>G (p.Asn176Lys) c.478T>G c.2349T>G (p.Asn783Lys) n.565T>G c.*299T>G (n.*299T>G) | |
| 6 | g.32814435A>G | CA449747303 | HLA-DOB | c.528T>C (p.Asn176=) c.478T>C c.2349T>C (p.Asn783=) n.565T>C c.*299T>C (n.*299T>C) | |
| 6 | g.32814435A>T | CA363573786 | HLA-DOB | c.528T>A (p.Asn176Lys) c.478T>A c.2349T>A (p.Asn783Lys) n.565T>A c.*299T>A (n.*299T>A) | |
| 6 | g.32814436T>A | CA363573787 | HLA-DOB | c.527A>T (p.Asn176Ile) c.477A>T c.2348A>T (p.Asn783Ile) n.564A>T c.*298A>T (n.*298A>T) | |
| 6 | g.32814436T>C | CA3745550 | HLA-DOB | c.527A>G (p.Asn176Ser) c.477A>G c.2348A>G (p.Asn783Ser) n.564A>G c.*298A>G (n.*298A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814436T>G | CA363573788 | HLA-DOB | c.527A>C (p.Asn176Thr) c.477A>C c.2348A>C (p.Asn783Thr) n.564A>C c.*298A>C (n.*298A>C) | |
| 6 | g.32814436T= | CA1619747575 | HLA-DOB | c.527A= (p.Asn176=) c.477A= c.2348A= (p.Asn783=) n.564A= c.*298A= (n.*298A=) | |
| 6 | g.32814437T>A | CA363573789 | HLA-DOB | c.526A>T (p.Asn176Tyr) c.476A>T c.2347A>T (p.Asn783Tyr) n.563A>T c.*297A>T (n.*297A>T) | |
| 6 | g.32814437T>C | CA363573790 | HLA-DOB | c.526A>G (p.Asn176Asp) c.476A>G c.2347A>G (p.Asn783Asp) n.563A>G c.*297A>G (n.*297A>G) | |
| 6 | g.32814437T>G | CA363573791 | HLA-DOB | c.526A>C (p.Asn176His) c.476A>C c.2347A>C (p.Asn783His) n.563A>C c.*297A>C (n.*297A>C) | |
| 6 | g.32814438C>A | CA363573792 | HLA-DOB | c.525G>T (p.Arg175Ser) c.475G>T c.2346G>T (p.Arg782Ser) n.562G>T c.*296G>T (n.*296G>T) | |
| 6 | g.32814438C>G | CA363573793 | HLA-DOB | c.525G>C (p.Arg175Ser) c.475G>C c.2346G>C (p.Arg782Ser) n.562G>C c.*296G>C (n.*296G>C) | |
| 6 | g.32814438C>T | CA449747304 | HLA-DOB | c.525G>A (p.Arg175=) c.475G>A c.2346G>A (p.Arg782=) n.562G>A c.*296G>A (n.*296G>A) | COSMIC |
| 6 | g.32814439C>A | CA363573794 | HLA-DOB | c.524G>T (p.Arg175Met) c.474G>T c.2345G>T (p.Arg782Met) n.561G>T c.*295G>T (n.*295G>T) | |
| 6 | g.32814439C>G | CA363573796 | HLA-DOB | c.524G>C (p.Arg175Thr) c.474G>C c.2345G>C (p.Arg782Thr) n.561G>C c.*295G>C (n.*295G>C) | |
| 6 | g.32814439C>T | CA363573795 | HLA-DOB | c.524G>A (p.Arg175Lys) c.474G>A c.2345G>A (p.Arg782Lys) n.561G>A c.*295G>A (n.*295G>A) | gnomAD v3 gnomAD v4 |
| 6 | g.32814440T>A | CA363573797 | HLA-DOB | c.523A>T (p.Arg175Trp) c.473A>T c.2344A>T (p.Arg782Trp) n.560A>T c.*294A>T (n.*294A>T) | |
| 6 | g.32814440T>C | CA363573798 | HLA-DOB | c.523A>G (p.Arg175Gly) c.473A>G c.2344A>G (p.Arg782Gly) n.560A>G c.*294A>G (n.*294A>G) | gnomAD v4 |
| 6 | g.32814440T>G | CA449747305 | HLA-DOB | c.523A>C (p.Arg175=) c.473A>C c.2344A>C (p.Arg782=) n.560A>C c.*294A>C (n.*294A>C) | gnomAD v3 gnomAD v4 |
| 6 | g.32814441G>A | CA449747306 | HLA-DOB | c.522C>T (p.Ile174=) c.472C>T c.2343C>T (p.Ile781=) n.559C>T c.*293C>T (n.*293C>T) | gnomAD v4 |
| 6 | g.32814441G>C | CA363573799 | HLA-DOB | c.522C>G (p.Ile174Met) c.472C>G c.2343C>G (p.Ile781Met) n.559C>G c.*293C>G (n.*293C>G) | |
| 6 | g.32814441G>T | CA449747307 | HLA-DOB | c.522C>A (p.Ile174=) c.472C>A c.2343C>A (p.Ile781=) n.559C>A c.*293C>A (n.*293C>A) | |
| 6 | g.32814442A= | CA1619747576 | HLA-DOB | c.521T= (p.Ile174=) c.471T= c.2342T= (p.Ile781=) n.558T= c.*292T= (n.*292T=) | |
| 6 | g.32814442A>C | CA363573800 | HLA-DOB | c.521T>G (p.Ile174Ser) c.471T>G c.2342T>G (p.Ile781Ser) n.558T>G c.*292T>G (n.*292T>G) | |
| 6 | g.32814442A>G | CA3745551 | HLA-DOB | c.521T>C (p.Ile174Thr) c.471T>C c.2342T>C (p.Ile781Thr) n.558T>C c.*292T>C (n.*292T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814442A>T | CA363573801 | HLA-DOB | c.521T>A (p.Ile174Asn) c.471T>A c.2342T>A (p.Ile781Asn) n.558T>A c.*292T>A (n.*292T>A) | |
| 6 | g.32814443T>A | CA3745552 | HLA-DOB | c.520A>T (p.Ile174Phe) c.470A>T c.2341A>T (p.Ile781Phe) n.557A>T c.*291A>T (n.*291A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814443T>C | CA363573802 | HLA-DOB | c.520A>G (p.Ile174Val) c.470A>G c.2341A>G (p.Ile781Val) n.557A>G c.*291A>G (n.*291A>G) | gnomAD v4 |
| 6 | g.32814443T>G | CA363573803 | HLA-DOB | c.520A>C (p.Ile174Leu) c.470A>C c.2341A>C (p.Ile781Leu) n.557A>C c.*291A>C (n.*291A>C) | |
| 6 | g.32814443T= | CA1619747577 | HLA-DOB | c.520A= (p.Ile174=) c.470A= c.2341A= (p.Ile781=) n.557A= c.*291A= (n.*291A=) | |
| 6 | g.32814444A>C | CA449747308 | HLA-DOB | c.519T>G (p.Pro173=) c.469T>G c.2340T>G (p.Pro780=) n.556T>G c.*290T>G (n.*290T>G) | |
| 6 | g.32814444A>G | CA449747309 | HLA-DOB | c.519T>C (p.Pro173=) c.469T>C c.2340T>C (p.Pro780=) n.556T>C c.*290T>C (n.*290T>C) | |
| 6 | g.32814444A>T | CA449747310 | HLA-DOB | c.519T>A (p.Pro173=) c.469T>A c.2340T>A (p.Pro780=) n.556T>A c.*290T>A (n.*290T>A) | |
| 6 | g.32814445G>A | CA363573806 | HLA-DOB | c.518C>T (p.Pro173Leu) c.468C>T c.2339C>T (p.Pro780Leu) n.555C>T c.*289C>T (n.*289C>T) | |
| 6 | g.32814445G>C | CA363573805 | HLA-DOB | c.518C>G (p.Pro173Arg) c.468C>G c.2339C>G (p.Pro780Arg) n.555C>G c.*289C>G (n.*289C>G) | gnomAD v4 |
| 6 | g.32814445G>T | CA363573804 | HLA-DOB | c.518C>A (p.Pro173His) c.468C>A c.2339C>A (p.Pro780His) n.555C>A c.*289C>A (n.*289C>A) | |
| 6 | g.32814446G>A | CA363573807 | HLA-DOB | c.517C>T (p.Pro173Ser) c.467C>T c.2338C>T (p.Pro780Ser) n.554C>T c.*288C>T (n.*288C>T) | |
| 6 | g.32814446G>C | CA363573808 | HLA-DOB | c.517C>G (p.Pro173Ala) c.467C>G c.2338C>G (p.Pro780Ala) n.554C>G c.*288C>G (n.*288C>G) | |
| 6 | g.32814446G>T | CA363573809 | HLA-DOB | c.517C>A (p.Pro173Thr) c.467C>A c.2338C>A (p.Pro780Thr) n.554C>A c.*288C>A (n.*288C>A) | gnomAD v4 |
| 6 | g.32814447G>A | CA449747311 | HLA-DOB | c.516C>T (p.Gly172=) c.466C>T c.2337C>T (p.Gly779=) n.553C>T c.*287C>T (n.*287C>T) | COSMIC |
| 6 | g.32814447G>C | CA449747312 | HLA-DOB | c.516C>G (p.Gly172=) c.466C>G c.2337C>G (p.Gly779=) n.553C>G c.*287C>G (n.*287C>G) | |
| 6 | g.32814447G>T | CA449747313 | HLA-DOB | c.516C>A (p.Gly172=) c.466C>A c.2337C>A (p.Gly779=) n.553C>A c.*287C>A (n.*287C>A) | |
| 6 | g.32814447_32814448delinsGC | CA1619747578 | HLA-DOB | c.515_516delinsGC (p.Gly172=) c.465_466delinsGC c.2336_2337delinsGC (p.Gly779=) n.552_553delinsGC c.*286_*287delinsGC (n.*286_*287delinsGC) | |
| 6 | g.32814448C>A | CA363573810 | HLA-DOB | c.515G>T (p.Gly172Val) c.465G>T c.2336G>T (p.Gly779Val) n.552G>T c.*286G>T (n.*286G>T) | |
| 6 | g.32814448C>G | CA363573811 | HLA-DOB | c.515G>C (p.Gly172Ala) c.465G>C c.2336G>C (p.Gly779Ala) n.552G>C c.*286G>C (n.*286G>C) | |
| 6 | g.32814448C>T | CA363573812 | HLA-DOB | c.515G>A (p.Gly172Asp) c.465G>A c.2336G>A (p.Gly779Asp) n.552G>A c.*286G>A (n.*286G>A) | gnomAD v4 |
| 6 | g.32814449dup | CA1619747579 | HLA-DOB | c.515dup (p.Ile174TyrfsTer19) c.465dup c.2336dup (p.Ile781TyrfsTer19) n.552dup c.*286dup (n.*286dup) | dbSNP |
| 6 | g.32814449del | CA3745553 | HLA-DOB | c.515del (p.Gly172AlafsTer14) c.465del c.2336del (p.Gly779AlafsTer14) n.552del c.*286del (n.*286del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32814449C>A | CA363573813 | HLA-DOB | c.514G>T (p.Gly172Cys) c.464G>T c.2335G>T (p.Gly779Cys) n.551G>T c.*285G>T (n.*285G>T) | |
| 6 | g.32814449C>G | CA363573814 | HLA-DOB | c.514G>C (p.Gly172Arg) c.464G>C c.2335G>C (p.Gly779Arg) n.551G>C c.*285G>C (n.*285G>C) | |
| 6 | g.32814449C>T | CA363573815 | HLA-DOB | c.514G>A (p.Gly172Ser) c.464G>A c.2335G>A (p.Gly779Ser) n.551G>A c.*285G>A (n.*285G>A) | |
| 6 | g.32814450A>C | CA449747314 | HLA-DOB | c.513T>G (p.Thr171=) c.463T>G c.2334T>G (p.Thr778=) n.550T>G c.*284T>G (n.*284T>G) | |
| 6 | g.32814450A>G | CA449747315 | HLA-DOB | c.513T>C (p.Thr171=) c.463T>C c.2334T>C (p.Thr778=) n.550T>C c.*284T>C (n.*284T>C) | dbSNP |
| 6 | g.32814450A>T | CA449747316 | HLA-DOB | c.513T>A (p.Thr171=) c.463T>A c.2334T>A (p.Thr778=) n.550T>A c.*284T>A (n.*284T>A) | |
| 6 | g.32814450_32814451delinsAG | CA1619747580 | HLA-DOB | c.512_513delinsCT (p.Thr171=) c.462_463delinsCT c.2333_2334delinsCT (p.Thr778=) n.549_550delinsCT c.*283_*284delinsCT (n.*283_*284delinsCT) | |
| 6 | g.32814451del | CA3745554 | HLA-DOB | c.512del (p.Thr171MetfsTer15) c.462del c.2333del (p.Thr778MetfsTer15) n.549del c.*283del (n.*283del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32814451G>A | CA136987610 | HLA-DOB | c.512C>T (p.Thr171Ile) c.462C>T c.2333C>T (p.Thr778Ile) n.549C>T c.*283C>T (n.*283C>T) | dbSNP gnomAD v4 |
| 6 | g.32814451G>C | CA363573817 | HLA-DOB | c.512C>G (p.Thr171Ser) c.462C>G c.2333C>G (p.Thr778Ser) n.549C>G c.*283C>G (n.*283C>G) | |
| 6 | g.32814451G= | CA1619747581 | HLA-DOB | c.512C= (p.Thr171=) c.462C= c.2333C= (p.Thr778=) n.549C= c.*283C= (n.*283C=) | |
| 6 | g.32814451G>T | CA363573816 | HLA-DOB | c.512C>A (p.Thr171Asn) c.462C>A c.2333C>A (p.Thr778Asn) n.549C>A c.*283C>A (n.*283C>A) | |
| 6 | g.32814452T>A | CA363573818 | HLA-DOB | c.511A>T (p.Thr171Ser) c.461A>T c.2332A>T (p.Thr778Ser) n.548A>T c.*282A>T (n.*282A>T) | gnomAD v4 |
| 6 | g.32814452T>C | CA363573819 | HLA-DOB | c.511A>G (p.Thr171Ala) c.461A>G c.2332A>G (p.Thr778Ala) n.548A>G c.*282A>G (n.*282A>G) | gnomAD v4 |
| 6 | g.32814452T>G | CA363573820 | HLA-DOB | c.511A>C (p.Thr171Pro) c.461A>C c.2332A>C (p.Thr778Pro) n.548A>C c.*282A>C (n.*282A>C) | |
| 6 | g.32814453G>A | CA449747319 | HLA-DOB | c.510C>T (p.Ser170=) c.460C>T c.2331C>T (p.Ser777=) n.547C>T c.*281C>T (n.*281C>T) | gnomAD v4 |
| 6 | g.32814453G>C | CA449747318 | HLA-DOB | c.510C>G (p.Ser170=) c.460C>G c.2331C>G (p.Ser777=) n.547C>G c.*281C>G (n.*281C>G) | gnomAD v4 |
| 6 | g.32814453G>T | CA449747317 | HLA-DOB | c.510C>A (p.Ser170=) c.460C>A c.2331C>A (p.Ser777=) n.547C>A c.*281C>A (n.*281C>A) | |
| 6 | g.32814454G>A | CA363573821 | HLA-DOB | c.509C>T (p.Ser170Phe) c.459C>T c.2330C>T (p.Ser777Phe) n.546C>T c.*280C>T (n.*280C>T) | |
| 6 | g.32814454G>C | CA363573822 | HLA-DOB | c.509C>G (p.Ser170Cys) c.459C>G c.2330C>G (p.Ser777Cys) n.546C>G c.*280C>G (n.*280C>G) | |
| 6 | g.32814454G>T | CA363573823 | HLA-DOB | c.509C>A (p.Ser170Tyr) c.459C>A c.2330C>A (p.Ser777Tyr) n.546C>A c.*280C>A (n.*280C>A) | |
| 6 | g.32814455A>C | CA363573824 | HLA-DOB | c.508T>G (p.Ser170Ala) c.458T>G c.2329T>G (p.Ser777Ala) n.545T>G c.*279T>G (n.*279T>G) | |
| 6 | g.32814455A>G | CA363573825 | HLA-DOB | c.508T>C (p.Ser170Pro) c.458T>C c.2329T>C (p.Ser777Pro) n.545T>C c.*279T>C (n.*279T>C) | |
| 6 | g.32814455A>T | CA363573826 | HLA-DOB | c.508T>A (p.Ser170Thr) c.458T>A c.2329T>A (p.Ser777Thr) n.545T>A c.*279T>A (n.*279T>A) | |
| 6 | g.32814456C>A | CA363573827 | HLA-DOB | c.507G>T (p.Met169Ile) c.457G>T c.2328G>T (p.Met776Ile) n.544G>T c.*278G>T (n.*278G>T) | |
| 6 | g.32814456C= | CA1619747582 | HLA-DOB | c.507G= (p.Met169=) c.457G= c.2328G= (p.Met776=) n.544G= c.*278G= (n.*278G=) | |
| 6 | g.32814456C>G | CA363573828 | HLA-DOB | c.507G>C (p.Met169Ile) c.457G>C c.2328G>C (p.Met776Ile) n.544G>C c.*278G>C (n.*278G>C) | |
| 6 | g.32814456C>T | CA136987612 | HLA-DOB | c.507G>A (p.Met169Ile) c.457G>A c.2328G>A (p.Met776Ile) n.544G>A c.*278G>A (n.*278G>A) | dbSNP gnomAD v4 |
| 6 | g.32814457A>C | CA363573830 | HLA-DOB | c.506T>G (p.Met169Arg) c.456T>G c.2327T>G (p.Met776Arg) n.543T>G c.*277T>G (n.*277T>G) | |
| 6 | g.32814457A>G | CA363573831 | HLA-DOB | c.506T>C (p.Met169Thr) c.456T>C c.2327T>C (p.Met776Thr) n.543T>C c.*277T>C (n.*277T>C) | |
| 6 | g.32814457A>T | CA363573829 | HLA-DOB | c.506T>A (p.Met169Lys) c.456T>A c.2327T>A (p.Met776Lys) n.543T>A c.*277T>A (n.*277T>A) | |
| 6 | g.32814458T>A | CA363573834 | HLA-DOB | c.505A>T (p.Met169Leu) c.455A>T c.2326A>T (p.Met776Leu) n.542A>T c.*276A>T (n.*276A>T) | |
| 6 | g.32814458T>C | CA363573832 | HLA-DOB | c.505A>G (p.Met169Val) c.455A>G c.2326A>G (p.Met776Val) n.542A>G c.*276A>G (n.*276A>G) | |
| 6 | g.32814458T>G | CA363573833 | HLA-DOB | c.505A>C (p.Met169Leu) c.455A>C c.2326A>C (p.Met776Leu) n.542A>C c.*276A>C (n.*276A>C) | COSMIC |
| 6 | g.32814459G>A | CA449747320 | HLA-DOB | c.504C>T (p.Val168=) c.454C>T c.2325C>T (p.Val775=) n.541C>T c.*275C>T (n.*275C>T) | |
| 6 | g.32814459G>C | CA449747321 | HLA-DOB | c.504C>G (p.Val168=) c.454C>G c.2325C>G (p.Val775=) n.541C>G c.*275C>G (n.*275C>G) | |
| 6 | g.32814459G>T | CA449747322 | HLA-DOB | c.504C>A (p.Val168=) c.454C>A c.2325C>A (p.Val775=) n.541C>A c.*275C>A (n.*275C>A) | gnomAD v4 |
| 6 | g.32814460A>C | CA363573835 | HLA-DOB | c.503T>G (p.Val168Gly) c.453T>G c.2324T>G (p.Val775Gly) n.540T>G c.*274T>G (n.*274T>G) | |
| 6 | g.32814460A>G | CA363573836 | HLA-DOB | c.503T>C (p.Val168Ala) c.453T>C c.2324T>C (p.Val775Ala) n.540T>C c.*274T>C (n.*274T>C) | |
| 6 | g.32814460A>T | CA363573837 | HLA-DOB | c.503T>A (p.Val168Asp) c.453T>A c.2324T>A (p.Val775Asp) n.540T>A c.*274T>A (n.*274T>A) | gnomAD v4 |