WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422739C>A | CA406013480 | BCKDHA | c.964C>A (p.Gln322Lys) c.898C>A (p.Gln300Lys) n.593C>A c.1066C>A (p.Gln356Lys) c.877C>A (p.Gln293Lys) c.922+42C>A (n.922+42C>A) c.961C>A (p.Gln321Lys) | |
| 19 | g.41422739C= | CA2336459253 | BCKDHA | c.964C= (p.Gln322=) c.898C= (p.Gln300=) n.593C= c.1066C= (p.Gln356=) c.877C= (p.Gln293=) c.922+42C= (n.922+42C=) c.961C= (p.Gln321=) | |
| 19 | g.41422739C>G | CA406013481 | BCKDHA | c.964C>G (p.Gln322Glu) c.898C>G (p.Gln300Glu) n.593C>G c.1066C>G (p.Gln356Glu) c.877C>G (p.Gln293Glu) c.922+42C>G (n.922+42C>G) c.961C>G (p.Gln321Glu) | |
| 19 | g.41422739C>T | CA221230 | BCKDHA | c.964C>T (p.Gln322Ter) c.898C>T (p.Gln300Ter) n.593C>T c.1066C>T (p.Gln356Ter) c.877C>T (p.Gln293Ter) c.922+42C>T (n.922+42C>T) c.961C>T (p.Gln321Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422740A>C | CA406013482 | BCKDHA | c.965A>C (p.Gln322Pro) c.899A>C (p.Gln300Pro) n.594A>C c.1067A>C (p.Gln356Pro) c.878A>C (p.Gln293Pro) c.922+43A>C (n.922+43A>C) c.962A>C (p.Gln321Pro) | |
| 19 | g.41422740A>G | CA406013483 | BCKDHA | c.965A>G (p.Gln322Arg) c.899A>G (p.Gln300Arg) n.594A>G c.1067A>G (p.Gln356Arg) c.878A>G (p.Gln293Arg) c.922+43A>G (n.922+43A>G) c.962A>G (p.Gln321Arg) | |
| 19 | g.41422740A>T | CA406013484 | BCKDHA | c.965A>T (p.Gln322Leu) c.899A>T (p.Gln300Leu) n.594A>T c.1067A>T (p.Gln356Leu) c.878A>T (p.Gln293Leu) c.922+43A>T (n.922+43A>T) c.962A>T (p.Gln321Leu) | |
| 19 | g.41422741G>A | CA507690757 | BCKDHA | c.966G>A (p.Gln322=) c.900G>A (p.Gln300=) n.595G>A c.1068G>A (p.Gln356=) c.879G>A (p.Gln293=) c.922+44G>A (n.922+44G>A) c.963G>A (p.Gln321=) | gnomAD v4 |
| 19 | g.41422741G>C | CA406013485 | BCKDHA | c.966G>C (p.Gln322His) c.900G>C (p.Gln300His) n.595G>C c.1068G>C (p.Gln356His) c.879G>C (p.Gln293His) c.922+44G>C (n.922+44G>C) c.963G>C (p.Gln321His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422741G= | CA2336459254 | BCKDHA | c.966G= (p.Gln322=) c.900G= (p.Gln300=) n.595G= c.1068G= (p.Gln356=) c.879G= (p.Gln293=) c.922+44G= (n.922+44G=) c.963G= (p.Gln321=) | |
| 19 | g.41422741G>T | CA406013486 | BCKDHA | c.966G>T (p.Gln322His) c.900G>T (p.Gln300His) n.595G>T c.1068G>T (p.Gln356His) c.879G>T (p.Gln293His) c.922+44G>T (n.922+44G>T) c.963G>T (p.Gln321His) | |
| 19 | g.41422742C>A | CA406013489 | BCKDHA | c.967C>A (p.Pro323Thr) c.901C>A (p.Pro301Thr) n.596C>A c.1069C>A (p.Pro357Thr) c.880C>A (p.Pro294Thr) c.922+45C>A (n.922+45C>A) c.964C>A (p.Pro322Thr) | gnomAD v4 |
| 19 | g.41422742C>G | CA406013487 | BCKDHA | c.967C>G (p.Pro323Ala) c.901C>G (p.Pro301Ala) n.596C>G c.1069C>G (p.Pro357Ala) c.880C>G (p.Pro294Ala) c.922+45C>G (n.922+45C>G) c.964C>G (p.Pro322Ala) | |
| 19 | g.41422742C>T | CA406013488 | BCKDHA | c.967C>T (p.Pro323Ser) c.901C>T (p.Pro301Ser) n.596C>T c.1069C>T (p.Pro357Ser) c.880C>T (p.Pro294Ser) c.922+45C>T (n.922+45C>T) c.964C>T (p.Pro322Ser) | |
| 19 | g.41422743C>A | CA308524904 | BCKDHA | c.968C>A (p.Pro323His) c.902C>A (p.Pro301His) n.597C>A c.1070C>A (p.Pro357His) c.881C>A (p.Pro294His) c.922+46C>A (n.922+46C>A) c.965C>A (p.Pro322His) | dbSNP |
| 19 | g.41422743C= | CA2336459255 | BCKDHA | c.968C= (p.Pro323=) c.902C= (p.Pro301=) n.597C= c.1070C= (p.Pro357=) c.881C= (p.Pro294=) c.922+46C= (n.922+46C=) c.965C= (p.Pro322=) | |
| 19 | g.41422743C>G | CA406013490 | BCKDHA | c.968C>G (p.Pro323Arg) c.902C>G (p.Pro301Arg) n.597C>G c.1070C>G (p.Pro357Arg) c.881C>G (p.Pro294Arg) c.922+46C>G (n.922+46C>G) c.965C>G (p.Pro322Arg) | ClinVar dbSNP |
| 19 | g.41422743C>T | CA406013491 | BCKDHA | c.968C>T (p.Pro323Leu) c.902C>T (p.Pro301Leu) n.597C>T c.1070C>T (p.Pro357Leu) c.881C>T (p.Pro294Leu) c.922+46C>T (n.922+46C>T) c.965C>T (p.Pro322Leu) | |
| 19 | g.41422744C>A | CA507690758 | BCKDHA | c.969C>A (p.Pro323=) c.903C>A (p.Pro301=) n.598C>A c.1071C>A (p.Pro357=) c.882C>A (p.Pro294=) c.922+47C>A (n.922+47C>A) c.966C>A (p.Pro322=) | |
| 19 | g.41422744C= | CA2336459256 | BCKDHA | c.969C= (p.Pro323=) c.903C= (p.Pro301=) n.598C= c.1071C= (p.Pro357=) c.882C= (p.Pro294=) c.922+47C= (n.922+47C=) c.966C= (p.Pro322=) | |
| 19 | g.41422744C>G | CA507690759 | BCKDHA | c.969C>G (p.Pro323=) c.903C>G (p.Pro301=) n.598C>G c.1071C>G (p.Pro357=) c.882C>G (p.Pro294=) c.922+47C>G (n.922+47C>G) c.966C>G (p.Pro322=) | |
| 19 | g.41422744C>T | CA507690760 | BCKDHA | c.969C>T (p.Pro323=) c.903C>T (p.Pro301=) n.598C>T c.1071C>T (p.Pro357=) c.882C>T (p.Pro294=) c.922+47C>T (n.922+47C>T) c.966C>T (p.Pro322=) | dbSNP COSMIC |
| 19 | g.41422745T>A | CA406013492 | BCKDHA | c.970T>A (p.Phe324Ile) c.904T>A (p.Phe302Ile) n.599T>A c.1072T>A (p.Phe358Ile) c.883T>A (p.Phe295Ile) c.922+48T>A (n.922+48T>A) c.967T>A (p.Phe323Ile) | |
| 19 | g.41422745T>C | CA406013493 | BCKDHA | c.970T>C (p.Phe324Leu) c.904T>C (p.Phe302Leu) n.599T>C c.1072T>C (p.Phe358Leu) c.883T>C (p.Phe295Leu) c.922+48T>C (n.922+48T>C) c.967T>C (p.Phe323Leu) | |
| 19 | g.41422745T>G | CA406013494 | BCKDHA | c.970T>G (p.Phe324Val) c.904T>G (p.Phe302Val) n.599T>G c.1072T>G (p.Phe358Val) c.883T>G (p.Phe295Val) c.922+48T>G (n.922+48T>G) c.967T>G (p.Phe323Val) | gnomAD v4 |
| 19 | g.41422746T>A | CA406013497 | BCKDHA | c.971T>A (p.Phe324Tyr) c.905T>A (p.Phe302Tyr) n.600T>A c.1073T>A (p.Phe358Tyr) c.884T>A (p.Phe295Tyr) c.922+49T>A (n.922+49T>A) c.968T>A (p.Phe323Tyr) | |
| 19 | g.41422746T>C | CA406013496 | BCKDHA | c.971T>C (p.Phe324Ser) c.905T>C (p.Phe302Ser) n.600T>C c.1073T>C (p.Phe358Ser) c.884T>C (p.Phe295Ser) c.922+49T>C (n.922+49T>C) c.968T>C (p.Phe323Ser) | |
| 19 | g.41422746T>G | CA406013495 | BCKDHA | c.971T>G (p.Phe324Cys) c.905T>G (p.Phe302Cys) n.600T>G c.1073T>G (p.Phe358Cys) c.884T>G (p.Phe295Cys) c.922+49T>G (n.922+49T>G) c.968T>G (p.Phe323Cys) | |
| 19 | g.41422746_41422747delinsTC | CA2336459257 | BCKDHA | c.971_972delinsTC (p.Phe324=) c.905_906delinsTC (p.Phe302=) n.600_601delinsTC c.1073_1074delinsTC (p.Phe358=) c.884_885delinsTC (p.Phe295=) c.922+49_922+50delinsTC (n.922+49_922+50delinsTC) c.968_969delinsTC (p.Phe323=) | |
| 19 | g.41422747C>A | CA406013498 | BCKDHA | c.972C>A (p.Phe324Leu) c.906C>A (p.Phe302Leu) n.601C>A c.1074C>A (p.Phe358Leu) c.885C>A (p.Phe295Leu) c.922+50C>A (n.922+50C>A) c.969C>A (p.Phe323Leu) | |
| 19 | g.41422747C= | CA2336459258 | BCKDHA | c.972C= (p.Phe324=) c.906C= (p.Phe302=) n.601C= c.1074C= (p.Phe358=) c.885C= (p.Phe295=) c.922+50C= (n.922+50C=) c.969C= (p.Phe323=) | |
| 19 | g.41422747C>G | CA406013499 | BCKDHA | c.972C>G (p.Phe324Leu) c.906C>G (p.Phe302Leu) n.601C>G c.1074C>G (p.Phe358Leu) c.885C>G (p.Phe295Leu) c.922+50C>G (n.922+50C>G) c.969C>G (p.Phe323Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422747C>T | CA146877 | BCKDHA | c.972C>T (p.Phe324=) c.906C>T (p.Phe302=) n.601C>T c.1074C>T (p.Phe358=) c.885C>T (p.Phe295=) c.922+50C>T (n.922+50C>T) c.969C>T (p.Phe323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422748del | CA308524905 | BCKDHA | c.973del (p.Leu325SerfsTer5) c.907del (p.Leu303SerfsTer5) n.602del c.1075del (p.Leu359SerfsTer5) c.886del (p.Leu296SerfsTer5) c.922+51del (n.922+51del) c.970del (p.Leu324SerfsTer5) | dbSNP |
| 19 | g.41422748C>A | CA406013500 | BCKDHA | c.973C>A (p.Leu325Ile) c.907C>A (p.Leu303Ile) n.602C>A c.1075C>A (p.Leu359Ile) c.886C>A (p.Leu296Ile) c.922+51C>A (n.922+51C>A) c.970C>A (p.Leu324Ile) | |
| 19 | g.41422748C= | CA2336459259 | BCKDHA | c.973C= (p.Leu325=) c.907C= (p.Leu303=) n.602C= c.1075C= (p.Leu359=) c.886C= (p.Leu296=) c.922+51C= (n.922+51C=) c.970C= (p.Leu324=) | |
| 19 | g.41422748C>G | CA406013501 | BCKDHA | c.973C>G (p.Leu325Val) c.907C>G (p.Leu303Val) n.602C>G c.1075C>G (p.Leu359Val) c.886C>G (p.Leu296Val) c.922+51C>G (n.922+51C>G) c.970C>G (p.Leu324Val) | |
| 19 | g.41422748C>T | CA406013502 | BCKDHA | c.973C>T (p.Leu325Phe) c.907C>T (p.Leu303Phe) n.602C>T c.1075C>T (p.Leu359Phe) c.886C>T (p.Leu296Phe) c.922+51C>T (n.922+51C>T) c.970C>T (p.Leu324Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422749T>A | CA406013503 | BCKDHA | c.974T>A (p.Leu325His) c.908T>A (p.Leu303His) n.603T>A c.1076T>A (p.Leu359His) c.887T>A (p.Leu296His) c.922+52T>A (n.922+52T>A) c.971T>A (p.Leu324His) | |
| 19 | g.41422749T>C | CA406013504 | BCKDHA | c.974T>C (p.Leu325Pro) c.908T>C (p.Leu303Pro) n.603T>C c.1076T>C (p.Leu359Pro) c.887T>C (p.Leu296Pro) c.922+52T>C (n.922+52T>C) c.971T>C (p.Leu324Pro) | |
| 19 | g.41422749T>G | CA406013505 | BCKDHA | c.974T>G (p.Leu325Arg) c.908T>G (p.Leu303Arg) n.603T>G c.1076T>G (p.Leu359Arg) c.887T>G (p.Leu296Arg) c.922+52T>G (n.922+52T>G) c.971T>G (p.Leu324Arg) | |
| 19 | g.41422750C>A | CA507690762 | BCKDHA | c.975C>A (p.Leu325=) c.909C>A (p.Leu303=) n.604C>A c.1077C>A (p.Leu359=) c.888C>A (p.Leu296=) c.922+53C>A (n.922+53C>A) c.972C>A (p.Leu324=) | |
| 19 | g.41422750C= | CA2336459260 | BCKDHA | c.975C= (p.Leu325=) c.909C= (p.Leu303=) n.604C= c.1077C= (p.Leu359=) c.888C= (p.Leu296=) c.922+53C= (n.922+53C=) c.972C= (p.Leu324=) | |
| 19 | g.41422750C>G | CA507690761 | BCKDHA | c.975C>G (p.Leu325=) c.909C>G (p.Leu303=) n.604C>G c.1077C>G (p.Leu359=) c.888C>G (p.Leu296=) c.922+53C>G (n.922+53C>G) c.972C>G (p.Leu324=) | |
| 19 | g.41422750C>T | CA146879 | BCKDHA | c.975C>T (p.Leu325=) c.909C>T (p.Leu303=) n.604C>T c.1077C>T (p.Leu359=) c.888C>T (p.Leu296=) c.922+53C>T (n.922+53C>T) c.972C>T (p.Leu324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422751A= | CA2336459261 | BCKDHA | c.976A= (p.Ile326=) c.910A= (p.Ile304=) n.605A= c.1078A= (p.Ile360=) c.889A= (p.Ile297=) c.922+54A= (n.922+54A=) c.973A= (p.Ile325=) | |
| 19 | g.41422751A>C | CA406013506 | BCKDHA | c.976A>C (p.Ile326Leu) c.910A>C (p.Ile304Leu) n.605A>C c.1078A>C (p.Ile360Leu) c.889A>C (p.Ile297Leu) c.922+54A>C (n.922+54A>C) c.973A>C (p.Ile325Leu) | dbSNP |
| 19 | g.41422751A>G | CA9461310 | BCKDHA | c.976A>G (p.Ile326Val) c.910A>G (p.Ile304Val) n.605A>G c.1078A>G (p.Ile360Val) c.889A>G (p.Ile297Val) c.922+54A>G (n.922+54A>G) c.973A>G (p.Ile325Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422751A>T | CA406013507 | BCKDHA | c.976A>T (p.Ile326Phe) c.910A>T (p.Ile304Phe) n.605A>T c.1078A>T (p.Ile360Phe) c.889A>T (p.Ile297Phe) c.922+54A>T (n.922+54A>T) c.973A>T (p.Ile325Phe) | |
| 19 | g.41422752T>A | CA406013508 | BCKDHA | c.977T>A (p.Ile326Asn) c.911T>A (p.Ile304Asn) n.606T>A c.1079T>A (p.Ile360Asn) c.890T>A (p.Ile297Asn) c.922+55T>A (n.922+55T>A) c.974T>A (p.Ile325Asn) |