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 |
|---|---|---|---|---|---|
| 12 | g.102893268_102899867delinsCAGGTGCC | CA229463 | PAH | c.169-4949_352+1467delinsGGCACCTG c.154-4949_337+1467delinsGGCACCTG n.91-4949_274+1467delinsGGCACCTG n.265-4949_448+1467delinsGGCACCTG c.153-4949_336+1467delinsGGCACCTG n.258-4949_441+1467delinsGGCACCTG | ClinVar |
| 12 | g.102893268_102899868delinsCAGGTGCC | CA916084112 | PAH | c.169-4950_352+1467delinsGGCACCTG c.154-4950_337+1467delinsGGCACCTG n.91-4950_274+1467delinsGGCACCTG n.265-4950_448+1467delinsGGCACCTG c.153-4950_336+1467delinsGGCACCTG n.258-4950_441+1467delinsGGCACCTG | |
| 12 | g.102893272_102899867delinsCCTG | CA229465 | PAH | c.169-4949_352+1463delinsCAGG c.154-4949_337+1463delinsCAGG n.91-4949_274+1463delinsCAGG n.265-4949_448+1463delinsCAGG c.153-4949_336+1463delinsCAGG n.258-4949_441+1463delinsCAGG | |
| 12 | g.102894720T>G | CA6748980 | PAH | c.352+15A>C (n.352+15A>C) c.337+15A>C (n.337+15A>C) n.274+15A>C n.448+15A>C c.336+15A>C n.441+15A>C | dbSNP ExAC gnomAD v2 |
| 12 | g.102894720T= | CA2059466521 | PAH | c.352+15A= (n.352+15A=) c.337+15A= (n.337+15A=) n.274+15A= n.448+15A= c.336+15A= n.441+15A= | |
| 12 | g.102894722del | CA2620507685 | PAH | c.352+14del (n.352+14del) c.337+14del (n.337+14del) n.274+14del n.448+14del c.336+14del n.441+14del | gnomAD v4 |
| 12 | g.102894723T>G | CA2527634197 | PAH | c.352+12A>C (n.352+12A>C) c.337+12A>C (n.337+12A>C) n.274+12A>C n.448+12A>C c.336+12A>C n.441+12A>C | gnomAD v4 |
| 12 | g.102894724C>A | CA2620507694 | PAH | c.352+11G>T (n.352+11G>T) c.337+11G>T (n.337+11G>T) n.274+11G>T n.448+11G>T c.336+11G>T n.441+11G>T | gnomAD v4 |
| 12 | g.102894724C= | CA2059466525 | PAH | c.352+11G= (n.352+11G=) c.337+11G= (n.337+11G=) n.274+11G= n.448+11G= c.336+11G= n.441+11G= | |
| 12 | g.102894724C>G | CA6748981 | PAH | c.352+11G>C (n.352+11G>C) c.337+11G>C (n.337+11G>C) n.274+11G>C n.448+11G>C c.336+11G>C n.441+11G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894724C>T | CA2620507701 | PAH | c.352+11G>A (n.352+11G>A) c.337+11G>A (n.337+11G>A) n.274+11G>A n.448+11G>A c.336+11G>A n.441+11G>A | gnomAD v4 |
| 12 | g.102894725T>C | CA242509590 | PAH | c.352+10A>G (n.352+10A>G) c.337+10A>G (n.337+10A>G) n.274+10A>G n.448+10A>G c.336+10A>G n.441+10A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102894725T>G | CA2573147902 | PAH | c.352+10A>C (n.352+10A>C) c.337+10A>C (n.337+10A>C) n.274+10A>C n.448+10A>C c.336+10A>C n.441+10A>C | ClinVar dbSNP |
| 12 | g.102894725T= | CA2059466527 | PAH | c.352+10A= (n.352+10A=) c.337+10A= (n.337+10A=) n.274+10A= n.448+10A= c.336+10A= n.441+10A= | |
| 12 | g.102894727A>G | CA2620507711 | PAH | c.352+8T>C (n.352+8T>C) c.337+8T>C (n.337+8T>C) n.274+8T>C n.448+8T>C c.336+8T>C n.441+8T>C | gnomAD v4 |
| 12 | g.102894728T>A | CA2573147903 | PAH | c.352+7A>T (n.352+7A>T) c.337+7A>T (n.337+7A>T) n.274+7A>T n.448+7A>T c.336+7A>T n.441+7A>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102894728T>C | CA645576935 | PAH | c.352+7A>G (n.352+7A>G) c.337+7A>G (n.337+7A>G) n.274+7A>G n.448+7A>G c.336+7A>G n.441+7A>G | COSMIC |
| 12 | g.102894728T>G | CA2580085693 | PAH | c.352+7A>C (n.352+7A>C) c.337+7A>C (n.337+7A>C) n.274+7A>C n.448+7A>C c.336+7A>C n.441+7A>C | ClinVar |
| 12 | g.102894732T= | CA2059466528 | PAH | c.352+3A= (n.352+3A=) c.337+3A= (n.337+3A=) n.274+3A= n.448+3A= c.336+3A= n.441+3A= | |
| 12 | g.102894733A>C | CA386303914 | PAH | c.352+2T>G (n.352+2T>G) c.337+2T>G (n.337+2T>G) n.274+2T>G n.448+2T>G c.336+2T>G n.441+2T>G | |
| 12 | g.102894733A>G | CA386303915 | PAH | c.352+2T>C (n.352+2T>C) c.337+2T>C (n.337+2T>C) n.274+2T>C n.448+2T>C c.336+2T>C n.441+2T>C | |
| 12 | g.102894733A>T | CA386303916 | PAH | c.352+2T>A (n.352+2T>A) c.337+2T>A (n.337+2T>A) n.274+2T>A n.448+2T>A c.336+2T>A n.441+2T>A | |
| 12 | g.102894733dup | CA16041560 | PAH | c.352+2dup (n.352+2dup) c.337+2dup (n.337+2dup) n.274+2dup n.448+2dup c.336+2dup n.441+2dup | ClinVar dbSNP |
| 12 | g.102894733_102894917delinsACCTGTGTCTTTCTTCTTATCTCGTGAAAGCTCATGGACAGTGGCACCAATGTCATGCCTCAAGATCTTGATGATGTTTGTCAGAGCAGGCAGGCTACGTTTATCCAAATGGGTGAAAAATTCATACTCATCTTTCTTTAAACGAGAAGGTCTAGATTCAATGTGGGTCAGGTTTACATCATTCT | CA2059466529 | PAH | c.170_352+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.155_337+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.92_274+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.266_448+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT c.154_336+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT n.259_441+2delinsAGAATGATGTAAACCTGACCCACATTGAATCTAGACCTTCTCGTTTAAAGAAAGATGAGTATGAATTTTTCACCCATTTGGATAAACGTAGCCTGCCTGCTCTGACAAACATCATCAAGATCTTGAGGCATGACATTGGTGCCACTGTCCATGAGCTTTCACGAGATAAGAAGAAAGACACAGGT | |
| 12 | g.102894734C>A | CA386303917 | PAH | c.352+1G>T (n.352+1G>T) c.337+1G>T (n.337+1G>T) n.274+1G>T n.448+1G>T c.336+1G>T n.441+1G>T | |
| 12 | g.102894734C= | CA2059466532 | PAH | c.352+1G= (n.352+1G=) c.337+1G= (n.337+1G=) n.274+1G= n.448+1G= c.336+1G= n.441+1G= | |
| 12 | g.102894734C>G | CA386303918 | PAH | c.352+1G>C (n.352+1G>C) c.337+1G>C (n.337+1G>C) n.274+1G>C n.448+1G>C c.336+1G>C n.441+1G>C | |
| 12 | g.102894734C>T | CA229519 | PAH | c.352+1G>A (n.352+1G>A) c.337+1G>A (n.337+1G>A) n.274+1G>A n.448+1G>A c.336+1G>A n.441+1G>A | ClinVar dbSNP |
| 12 | g.102894737_102894920del | CA16020769 | PAH | c.170_352+1del c.155_337+1del n.92_274+1del n.266_448+1del c.154_336+1del n.259_441+1del | dbSNP |
| 12 | g.102894735C>A | CA386303919 | PAH | c.352G>T (p.Val118Leu) c.337G>T (p.Val113Leu) c.352G>T n.274G>T n.448G>T c.336G>T n.441G>T | |
| 12 | g.102894735C= | CA2059466535 | PAH | c.352G= (p.Val118=) c.337G= (p.Val113=) c.352G= n.274G= n.448G= c.336G= n.441G= | |
| 12 | g.102894735C>G | CA386303920 | PAH | c.352G>C (p.Val118Leu) c.337G>C (p.Val113Leu) c.352G>C n.274G>C n.448G>C c.336G>C n.441G>C | |
| 12 | g.102894735C>T | CA6748982 | PAH | c.352G>A (p.Val118Met) c.337G>A (p.Val113Met) c.352G>A n.274G>A n.448G>A c.336G>A n.441G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102894736T>A | CA481333120 | PAH | c.351A>T (p.Thr117=) c.336A>T (p.Thr112=) n.273A>T n.447A>T c.335A>T n.440A>T | gnomAD v4 |
| 12 | g.102894736T>C | CA481333123 | PAH | c.351A>G (p.Thr117=) c.336A>G (p.Thr112=) n.273A>G n.447A>G c.335A>G n.440A>G | gnomAD v4 |
| 12 | g.102894736T>G | CA481333121 | PAH | c.351A>C (p.Thr117=) c.336A>C (p.Thr112=) n.273A>C n.447A>C c.335A>C n.440A>C | COSMIC |
| 12 | g.102894736_102894737delinsTG | CA2059466538 | PAH | c.350_351delinsCA (p.Thr117=) c.335_336delinsCA (p.Thr112=) n.272_273delinsCA n.446_447delinsCA c.334_335delinsCA n.439_440delinsCA | |
| 12 | g.102894739_102894740del | CA2580614531 | PAH | c.350_351del (p.Thr117SerfsTer28) c.335_336del (p.Thr112SerfsTer28) c.350_351del (p.Thr117=) n.272_273del n.446_447del c.334_335del c.350_351del (p.Thr117SerfsTer?) n.439_440del | ClinVar |
| 12 | g.102894737del | CA267653 | PAH | c.350del (p.Thr117LysfsTer?) c.335del (p.Thr112LysfsTer?) n.272del n.446del c.334del n.439del | ClinVar dbSNP |
| 12 | g.102894737G>A | CA267651 | PAH | c.350C>T (p.Thr117Ile) c.335C>T (p.Thr112Ile) n.272C>T n.446C>T c.334C>T n.439C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102894737G>C | CA386303921 | PAH | c.350C>G (p.Thr117Arg) c.335C>G (p.Thr112Arg) n.272C>G n.446C>G c.334C>G n.439C>G | |
| 12 | g.102894737G= | CA2059466549 | PAH | c.350C= (p.Thr117=) c.335C= (p.Thr112=) n.272C= n.446C= c.334C= n.439C= | |
| 12 | g.102894737G>T | CA386303922 | PAH | c.350C>A (p.Thr117Lys) c.335C>A (p.Thr112Lys) n.272C>A n.446C>A c.334C>A n.439C>A | |
| 12 | g.102894738T>A | CA386303925 | PAH | c.349A>T (p.Thr117Ser) c.334A>T (p.Thr112Ser) n.271A>T n.445A>T c.333A>T n.438A>T | |
| 12 | g.102894738T>C | CA386303924 | PAH | c.349A>G (p.Thr117Ala) c.334A>G (p.Thr112Ala) n.271A>G n.445A>G c.333A>G n.438A>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102894738T>G | CA386303923 | PAH | c.349A>C (p.Thr117Pro) c.334A>C (p.Thr112Pro) n.271A>C n.445A>C c.333A>C n.438A>C | |
| 12 | g.102894738T= | CA2059466551 | PAH | c.349A= (p.Thr117=) c.334A= (p.Thr112=) n.271A= n.445A= c.333A= n.438A= | |
| 12 | g.102894739G>A | CA481333126 | PAH | c.348C>T (p.Asp116=) c.333C>T (p.Asp111=) n.270C>T n.444C>T c.332C>T n.437C>T | gnomAD v4 |
| 12 | g.102894739G>C | CA386303926 | PAH | c.348C>G (p.Asp116Glu) c.333C>G (p.Asp111Glu) n.270C>G n.444C>G c.332C>G n.437C>G | |
| 12 | g.102894739G>T | CA386303927 | PAH | c.348C>A (p.Asp116Glu) c.333C>A (p.Asp111Glu) n.270C>A n.444C>A c.332C>A n.437C>A |