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 |
|---|---|---|---|---|---|
| 5 | g.137639863C>A | CA361048599 | KLHL3 | c.1018G>T (p.Ala340Ser) n.605G>T c.*335-11426G>T (n.*335-11426G>T) c.898G>T (p.Ala300Ser) c.772G>T (p.Ala258Ser) n.643G>T c.922G>T (p.Ala308Ser) | |
| 5 | g.137639863C>G | CA361048600 | KLHL3 | c.1018G>C (p.Ala340Pro) n.605G>C c.*335-11426G>C (n.*335-11426G>C) c.898G>C (p.Ala300Pro) c.772G>C (p.Ala258Pro) n.643G>C c.922G>C (p.Ala308Pro) | |
| 5 | g.137639863C>T | CA361048601 | KLHL3 | c.1018G>A (p.Ala340Thr) n.605G>A c.*335-11426G>A (n.*335-11426G>A) c.898G>A (p.Ala300Thr) c.772G>A (p.Ala258Thr) n.643G>A c.922G>A (p.Ala308Thr) | |
| 5 | g.137639864T>A | CA361048603 | KLHL3 | c.1017A>T (p.Arg339Ser) n.604A>T c.*335-11427A>T (n.*335-11427A>T) c.897A>T (p.Arg299Ser) c.771A>T (p.Arg257Ser) n.642A>T c.921A>T (p.Arg307Ser) | |
| 5 | g.137639864T>C | CA446561475 | KLHL3 | c.1017A>G (p.Arg339=) n.604A>G c.*335-11427A>G (n.*335-11427A>G) c.897A>G (p.Arg299=) c.771A>G (p.Arg257=) n.642A>G c.921A>G (p.Arg307=) | |
| 5 | g.137639864T>G | CA361048605 | KLHL3 | c.1017A>C (p.Arg339Ser) n.604A>C c.*335-11427A>C (n.*335-11427A>C) c.897A>C (p.Arg299Ser) c.771A>C (p.Arg257Ser) n.642A>C c.921A>C (p.Arg307Ser) | |
| 5 | g.137639865C>A | CA361048609 | KLHL3 | c.1016G>T (p.Arg339Ile) n.603G>T c.*335-11428G>T (n.*335-11428G>T) c.896G>T (p.Arg299Ile) c.770G>T (p.Arg257Ile) n.641G>T c.920G>T (p.Arg307Ile) | |
| 5 | g.137639865C>G | CA361048610 | KLHL3 | c.1016G>C (p.Arg339Thr) n.603G>C c.*335-11428G>C (n.*335-11428G>C) c.896G>C (p.Arg299Thr) c.770G>C (p.Arg257Thr) n.641G>C c.920G>C (p.Arg307Thr) | |
| 5 | g.137639865C>T | CA361048607 | KLHL3 | c.1016G>A (p.Arg339Lys) n.603G>A c.*335-11428G>A (n.*335-11428G>A) c.896G>A (p.Arg299Lys) c.770G>A (p.Arg257Lys) n.641G>A c.920G>A (p.Arg307Lys) | |
| 5 | g.137639866T>A | CA361048611 | KLHL3 | c.1015A>T (p.Arg339Ter) n.602A>T c.*335-11429A>T (n.*335-11429A>T) c.895A>T (p.Arg299Ter) c.769A>T (p.Arg257Ter) n.640A>T c.919A>T (p.Arg307Ter) | |
| 5 | g.137639866T>C | CA361048612 | KLHL3 | c.1015A>G (p.Arg339Gly) n.602A>G c.*335-11429A>G (n.*335-11429A>G) c.895A>G (p.Arg299Gly) c.769A>G (p.Arg257Gly) n.640A>G c.919A>G (p.Arg307Gly) | |
| 5 | g.137639866T>G | CA446561478 | KLHL3 | c.1015A>C (p.Arg339=) n.602A>C c.*335-11429A>C (n.*335-11429A>C) c.895A>C (p.Arg299=) c.769A>C (p.Arg257=) n.640A>C c.919A>C (p.Arg307=) | |
| 5 | g.137639867G>A | CA3422322 | KLHL3 | c.1014C>T (p.Cys338=) n.601C>T c.*335-11430C>T (n.*335-11430C>T) c.894C>T (p.Cys298=) c.768C>T (p.Cys256=) n.639C>T c.918C>T (p.Cys306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.137639867G>C | CA361048615 | KLHL3 | c.1014C>G (p.Cys338Trp) n.601C>G c.*335-11430C>G (n.*335-11430C>G) c.894C>G (p.Cys298Trp) c.768C>G (p.Cys256Trp) n.639C>G c.918C>G (p.Cys306Trp) | |
| 5 | g.137639867G= | CA1585498402 | KLHL3 | c.1014C= (p.Cys338=) n.601C= c.*335-11430C= (n.*335-11430C=) c.894C= (p.Cys298=) c.768C= (p.Cys256=) n.639C= c.918C= (p.Cys306=) | |
| 5 | g.137639867G>T | CA361048617 | KLHL3 | c.1014C>A (p.Cys338Ter) n.601C>A c.*335-11430C>A (n.*335-11430C>A) c.894C>A (p.Cys298Ter) c.768C>A (p.Cys256Ter) n.639C>A c.918C>A (p.Cys306Ter) | |
| 5 | g.137639868C>A | CA361048619 | KLHL3 | c.1013G>T (p.Cys338Phe) n.600G>T c.*335-11431G>T (n.*335-11431G>T) c.893G>T (p.Cys298Phe) c.767G>T (p.Cys256Phe) n.638G>T c.917G>T (p.Cys306Phe) | |
| 5 | g.137639868C>G | CA361048621 | KLHL3 | c.1013G>C (p.Cys338Ser) n.600G>C c.*335-11431G>C (n.*335-11431G>C) c.893G>C (p.Cys298Ser) c.767G>C (p.Cys256Ser) n.638G>C c.917G>C (p.Cys306Ser) | |
| 5 | g.137639868C>T | CA361048623 | KLHL3 | c.1013G>A (p.Cys338Tyr) n.600G>A c.*335-11431G>A (n.*335-11431G>A) c.893G>A (p.Cys298Tyr) c.767G>A (p.Cys256Tyr) n.638G>A c.917G>A (p.Cys306Tyr) | |
| 5 | g.137639869A>C | CA361048625 | KLHL3 | c.1012T>G (p.Cys338Gly) n.599T>G c.*335-11432T>G (n.*335-11432T>G) c.892T>G (p.Cys298Gly) c.766T>G (p.Cys256Gly) n.637T>G c.916T>G (p.Cys306Gly) | |
| 5 | g.137639869A>G | CA361048627 | KLHL3 | c.1012T>C (p.Cys338Arg) n.599T>C c.*335-11432T>C (n.*335-11432T>C) c.892T>C (p.Cys298Arg) c.766T>C (p.Cys256Arg) n.637T>C c.916T>C (p.Cys306Arg) | |
| 5 | g.137639869A>T | CA361048629 | KLHL3 | c.1012T>A (p.Cys338Ser) n.599T>A c.*335-11432T>A (n.*335-11432T>A) c.892T>A (p.Cys298Ser) c.766T>A (p.Cys256Ser) n.637T>A c.916T>A (p.Cys306Ser) | |
| 5 | g.137639870T>A | CA361048631 | KLHL3 | c.1011A>T (p.Arg337Ser) n.598A>T c.*335-11433A>T (n.*335-11433A>T) c.891A>T (p.Arg297Ser) c.765A>T (p.Arg255Ser) n.636A>T c.915A>T (p.Arg305Ser) | |
| 5 | g.137639870T>C | CA446561480 | KLHL3 | c.1011A>G (p.Arg337=) n.598A>G c.*335-11433A>G (n.*335-11433A>G) c.891A>G (p.Arg297=) c.765A>G (p.Arg255=) n.636A>G c.915A>G (p.Arg305=) | gnomAD v4 |
| 5 | g.137639870T>G | CA361048632 | KLHL3 | c.1011A>C (p.Arg337Ser) n.598A>C c.*335-11433A>C (n.*335-11433A>C) c.891A>C (p.Arg297Ser) c.765A>C (p.Arg255Ser) n.636A>C c.915A>C (p.Arg305Ser) | |
| 5 | g.137639871C>A | CA361048634 | KLHL3 | c.1010G>T (p.Arg337Ile) n.597G>T c.*335-11434G>T (n.*335-11434G>T) c.890G>T (p.Arg297Ile) c.764G>T (p.Arg255Ile) n.635G>T c.914G>T (p.Arg305Ile) | |
| 5 | g.137639871C>G | CA361048638 | KLHL3 | c.1010G>C (p.Arg337Thr) n.597G>C c.*335-11434G>C (n.*335-11434G>C) c.890G>C (p.Arg297Thr) c.764G>C (p.Arg255Thr) n.635G>C c.914G>C (p.Arg305Thr) | |
| 5 | g.137639871C>T | CA361048636 | KLHL3 | c.1010G>A (p.Arg337Lys) n.597G>A c.*335-11434G>A (n.*335-11434G>A) c.890G>A (p.Arg297Lys) c.764G>A (p.Arg255Lys) n.635G>A c.914G>A (p.Arg305Lys) | |
| 5 | g.137639872T>A | CA361048640 | KLHL3 | c.1009A>T (p.Arg337Ter) n.596A>T c.*335-11435A>T (n.*335-11435A>T) c.889A>T (p.Arg297Ter) c.763A>T (p.Arg255Ter) n.634A>T c.913A>T (p.Arg305Ter) | |
| 5 | g.137639872T>C | CA361048642 | KLHL3 | c.1009A>G (p.Arg337Gly) n.596A>G c.*335-11435A>G (n.*335-11435A>G) c.889A>G (p.Arg297Gly) c.763A>G (p.Arg255Gly) n.634A>G c.913A>G (p.Arg305Gly) | |
| 5 | g.137639872T>G | CA446561488 | KLHL3 | c.1009A>C (p.Arg337=) n.596A>C c.*335-11435A>C (n.*335-11435A>C) c.889A>C (p.Arg297=) c.763A>C (p.Arg255=) n.634A>C c.913A>C (p.Arg305=) | |
| 5 | g.137639873T>A | CA361048644 | KLHL3 | c.1008A>T (p.Arg336Ser) n.595A>T c.*335-11436A>T (n.*335-11436A>T) c.888A>T (p.Arg296Ser) c.762A>T (p.Arg254Ser) n.633A>T c.912A>T (p.Arg304Ser) | |
| 5 | g.137639873T>C | CA446561489 | KLHL3 | c.1008A>G (p.Arg336=) n.595A>G c.*335-11436A>G (n.*335-11436A>G) c.888A>G (p.Arg296=) c.762A>G (p.Arg254=) n.633A>G c.912A>G (p.Arg304=) | |
| 5 | g.137639873T>G | CA361048645 | KLHL3 | c.1008A>C (p.Arg336Ser) n.595A>C c.*335-11436A>C (n.*335-11436A>C) c.888A>C (p.Arg296Ser) c.762A>C (p.Arg254Ser) n.633A>C c.912A>C (p.Arg304Ser) | |
| 5 | g.137639874C>A | CA129306 | KLHL3 | c.1007G>T (p.Arg336Ile) n.594G>T c.*335-11437G>T (n.*335-11437G>T) c.887G>T (p.Arg296Ile) c.761G>T (p.Arg254Ile) n.632G>T c.911G>T (p.Arg304Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137639874C= | CA1585498407 | KLHL3 | c.1007G= (p.Arg336=) n.594G= c.*335-11437G= (n.*335-11437G=) c.887G= (p.Arg296=) c.761G= (p.Arg254=) n.632G= c.911G= (p.Arg304=) | |
| 5 | g.137639874C>G | CA361048647 | KLHL3 | c.1007G>C (p.Arg336Thr) n.594G>C c.*335-11437G>C (n.*335-11437G>C) c.887G>C (p.Arg296Thr) c.761G>C (p.Arg254Thr) n.632G>C c.911G>C (p.Arg304Thr) | |
| 5 | g.137639874C>T | CA361048649 | KLHL3 | c.1007G>A (p.Arg336Lys) n.594G>A c.*335-11437G>A (n.*335-11437G>A) c.887G>A (p.Arg296Lys) c.761G>A (p.Arg254Lys) n.632G>A c.911G>A (p.Arg304Lys) | |
| 5 | g.137639875T>A | CA361048650 | KLHL3 | c.1006A>T (p.Arg336Ter) n.593A>T c.*335-11438A>T (n.*335-11438A>T) c.886A>T (p.Arg296Ter) c.760A>T (p.Arg254Ter) n.631A>T c.910A>T (p.Arg304Ter) | |
| 5 | g.137639875T>C | CA361048652 | KLHL3 | c.1006A>G (p.Arg336Gly) n.593A>G c.*335-11438A>G (n.*335-11438A>G) c.886A>G (p.Arg296Gly) c.760A>G (p.Arg254Gly) n.631A>G c.910A>G (p.Arg304Gly) | |
| 5 | g.137639875T>G | CA446561494 | KLHL3 | c.1006A>C (p.Arg336=) n.593A>C c.*335-11438A>C (n.*335-11438A>C) c.886A>C (p.Arg296=) c.760A>C (p.Arg254=) n.631A>C c.910A>C (p.Arg304=) | |
| 5 | g.137639876G>A | CA3422323 | KLHL3 | c.1005C>T (p.Ser335=) n.592C>T c.*335-11439C>T (n.*335-11439C>T) c.885C>T (p.Ser295=) c.759C>T (p.Ser253=) n.630C>T c.909C>T (p.Ser303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.137639876G>C | CA446561497 | KLHL3 | c.1005C>G (p.Ser335=) n.592C>G c.*335-11439C>G (n.*335-11439C>G) c.885C>G (p.Ser295=) c.759C>G (p.Ser253=) n.630C>G c.909C>G (p.Ser303=) | |
| 5 | g.137639876G= | CA1585498412 | KLHL3 | c.1005C= (p.Ser335=) n.592C= c.*335-11439C= (n.*335-11439C=) c.885C= (p.Ser295=) c.759C= (p.Ser253=) n.630C= c.909C= (p.Ser303=) | |
| 5 | g.137639876G>T | CA446561498 | KLHL3 | c.1005C>A (p.Ser335=) n.592C>A c.*335-11439C>A (n.*335-11439C>A) c.885C>A (p.Ser295=) c.759C>A (p.Ser253=) n.630C>A c.909C>A (p.Ser303=) | |
| 5 | g.137639877G>A | CA361048659 | KLHL3 | c.1004C>T (p.Ser335Phe) n.591C>T c.*335-11440C>T (n.*335-11440C>T) c.884C>T (p.Ser295Phe) c.758C>T (p.Ser253Phe) n.629C>T c.908C>T (p.Ser303Phe) | |
| 5 | g.137639877G>C | CA361048657 | KLHL3 | c.1004C>G (p.Ser335Cys) n.591C>G c.*335-11440C>G (n.*335-11440C>G) c.884C>G (p.Ser295Cys) c.758C>G (p.Ser253Cys) n.629C>G c.908C>G (p.Ser303Cys) | |
| 5 | g.137639877G>T | CA361048655 | KLHL3 | c.1004C>A (p.Ser335Tyr) n.591C>A c.*335-11440C>A (n.*335-11440C>A) c.884C>A (p.Ser295Tyr) c.758C>A (p.Ser253Tyr) n.629C>A c.908C>A (p.Ser303Tyr) | |
| 5 | g.137639878A>C | CA361048662 | KLHL3 | c.1003T>G (p.Ser335Ala) n.590T>G c.*335-11441T>G (n.*335-11441T>G) c.883T>G (p.Ser295Ala) c.757T>G (p.Ser253Ala) n.628T>G c.907T>G (p.Ser303Ala) | |
| 5 | g.137639878A>G | CA361048666 | KLHL3 | c.1003T>C (p.Ser335Pro) n.590T>C c.*335-11441T>C (n.*335-11441T>C) c.883T>C (p.Ser295Pro) c.757T>C (p.Ser253Pro) n.628T>C c.907T>C (p.Ser303Pro) | gnomAD v4 |