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 |
|---|---|---|---|---|---|
| X | g.154993039C>A | CA414919583 | F8 | c.498G>T (p.Met166Ile) c.*284G>T (n.*284G>T) c.393G>T (p.Met131Ile) c.480G>T (p.Met160Ile) | |
| X | g.154993039C= | CA2466856531 | F8 | c.498G= (p.Met166=) c.*284G= (n.*284G=) c.393G= (p.Met131=) c.480G= (p.Met160=) | |
| X | g.154993039C>G | CA414919584 | F8 | c.498G>C (p.Met166Ile) c.*284G>C (n.*284G>C) c.393G>C (p.Met131Ile) c.480G>C (p.Met160Ile) | |
| X | g.154993039C>T | CA414919585 | F8 | c.498G>A (p.Met166Ile) c.*284G>A (n.*284G>A) c.393G>A (p.Met131Ile) c.480G>A (p.Met160Ile) | dbSNP |
| X | g.154993040A>C | CA414919586 | F8 | c.497T>G (p.Met166Arg) c.*283T>G (n.*283T>G) c.392T>G (p.Met131Arg) c.479T>G (p.Met160Arg) | |
| X | g.154993040A>G | CA414919587 | F8 | c.497T>C (p.Met166Thr) c.*283T>C (n.*283T>C) c.392T>C (p.Met131Thr) c.479T>C (p.Met160Thr) | |
| X | g.154993040A>T | CA414919588 | F8 | c.497T>A (p.Met166Lys) c.*283T>A (n.*283T>A) c.392T>A (p.Met131Lys) c.479T>A (p.Met160Lys) | |
| X | g.154993041T>A | CA414919589 | F8 | c.496A>T (p.Met166Leu) c.*282A>T (n.*282A>T) c.391A>T (p.Met131Leu) c.478A>T (p.Met160Leu) | |
| X | g.154993041T>C | CA414919591 | F8 | c.496A>G (p.Met166Val) c.*282A>G (n.*282A>G) c.391A>G (p.Met131Val) c.478A>G (p.Met160Val) | |
| X | g.154993041T>G | CA414919590 | F8 | c.496A>C (p.Met166Leu) c.*282A>C (n.*282A>C) c.391A>C (p.Met131Leu) c.478A>C (p.Met160Leu) | |
| X | g.154993042T>A | CA519372619 | F8 | c.495A>T (p.Pro165=) c.*281A>T (n.*281A>T) c.390A>T (p.Pro130=) c.477A>T (p.Pro159=) | |
| X | g.154993042T>C | CA519372625 | F8 | c.495A>G (p.Pro165=) c.*281A>G (n.*281A>G) c.390A>G (p.Pro130=) c.477A>G (p.Pro159=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154993042T>G | CA519372626 | F8 | c.495A>C (p.Pro165=) c.*281A>C (n.*281A>C) c.390A>C (p.Pro130=) c.477A>C (p.Pro159=) | |
| X | g.154993042T= | CA2466856532 | F8 | c.495A= (p.Pro165=) c.*281A= (n.*281A=) c.390A= (p.Pro130=) c.477A= (p.Pro159=) | |
| X | g.154993043G>A | CA414919592 | F8 | c.494C>T (p.Pro165Leu) c.*280C>T (n.*280C>T) c.389C>T (p.Pro130Leu) c.476C>T (p.Pro159Leu) | dbSNP |
| X | g.154993043G>C | CA414919593 | F8 | c.494C>G (p.Pro165Arg) c.*280C>G (n.*280C>G) c.389C>G (p.Pro130Arg) c.476C>G (p.Pro159Arg) | |
| X | g.154993043G= | CA2466856533 | F8 | c.494C= (p.Pro165=) c.*280C= (n.*280C=) c.389C= (p.Pro130=) c.476C= (p.Pro159=) | |
| X | g.154993043G>T | CA414919594 | F8 | c.494C>A (p.Pro165Gln) c.*280C>A (n.*280C>A) c.389C>A (p.Pro130Gln) c.476C>A (p.Pro159Gln) | |
| X | g.154993044del | CA2499226520 | F8 | c.494del (p.Pro165GlnfsTer20) c.*280del (n.*280del) c.389del (p.Pro130GlnfsTer20) c.476del (p.Pro159GlnfsTer?) | ClinVar dbSNP |
| X | g.154993044G>A | CA255065 | F8 | c.493C>T (p.Pro165Ser) c.*279C>T (n.*279C>T) c.388C>T (p.Pro130Ser) c.475C>T (p.Pro159Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.154993044G>C | CA414919595 | F8 | c.493C>G (p.Pro165Ala) c.*279C>G (n.*279C>G) c.388C>G (p.Pro130Ala) c.475C>G (p.Pro159Ala) | |
| X | g.154993044G= | CA2466856534 | F8 | c.493C= (p.Pro165=) c.*279C= (n.*279C=) c.388C= (p.Pro130=) c.475C= (p.Pro159=) | |
| X | g.154993044G>T | CA414919596 | F8 | c.493C>A (p.Pro165Thr) c.*279C>A (n.*279C>A) c.388C>A (p.Pro130Thr) c.475C>A (p.Pro159Thr) | |
| X | g.154993045A>C | CA519372649 | F8 | c.492T>G (p.Gly164=) c.*278T>G (n.*278T>G) c.387T>G (p.Gly129=) c.474T>G (p.Gly158=) | |
| X | g.154993045A>G | CA519372655 | F8 | c.492T>C (p.Gly164=) c.*278T>C (n.*278T>C) c.387T>C (p.Gly129=) c.474T>C (p.Gly158=) | |
| X | g.154993045A>T | CA519372658 | F8 | c.492T>A (p.Gly164=) c.*278T>A (n.*278T>A) c.387T>A (p.Gly129=) c.474T>A (p.Gly158=) | |
| X | g.154993046C>A | CA255064 | F8 | c.491G>T (p.Gly164Val) c.*277G>T (n.*277G>T) c.386G>T (p.Gly129Val) c.473G>T (p.Gly158Val) | ClinVar dbSNP |
| X | g.154993046C= | CA2466856535 | F8 | c.491G= (p.Gly164=) c.*277G= (n.*277G=) c.386G= (p.Gly129=) c.473G= (p.Gly158=) | |
| X | g.154993046C>G | CA414919597 | F8 | c.491G>C (p.Gly164Ala) c.*277G>C (n.*277G>C) c.386G>C (p.Gly129Ala) c.473G>C (p.Gly158Ala) | |
| X | g.154993046C>T | CA414919598 | F8 | c.491G>A (p.Gly164Asp) c.*277G>A (n.*277G>A) c.386G>A (p.Gly129Asp) c.473G>A (p.Gly158Asp) | dbSNP gnomAD v2 |
| X | g.154993047C>A | CA414919600 | F8 | c.490G>T (p.Gly164Cys) c.*276G>T (n.*276G>T) c.385G>T (p.Gly129Cys) c.472G>T (p.Gly158Cys) | dbSNP |
| X | g.154993047C= | CA2466856536 | F8 | c.490G= (p.Gly164=) c.*276G= (n.*276G=) c.385G= (p.Gly129=) c.472G= (p.Gly158=) | |
| X | g.154993047C>G | CA414919601 | F8 | c.490G>C (p.Gly164Arg) c.*276G>C (n.*276G>C) c.385G>C (p.Gly129Arg) c.472G>C (p.Gly158Arg) | |
| X | g.154993047C>T | CA414919599 | F8 | c.490G>A (p.Gly164Ser) c.*276G>A (n.*276G>A) c.385G>A (p.Gly129Ser) c.472G>A (p.Gly158Ser) | dbSNP |
| X | g.154993048A>C | CA414919603 | F8 | c.489T>G (p.Asn163Lys) c.*275T>G (n.*275T>G) c.384T>G (p.Asn128Lys) c.471T>G (p.Asn157Lys) | |
| X | g.154993048A>G | CA519372683 | F8 | c.489T>C (p.Asn163=) c.*275T>C (n.*275T>C) c.384T>C (p.Asn128=) c.471T>C (p.Asn157=) | |
| X | g.154993048A>T | CA414919602 | F8 | c.489T>A (p.Asn163Lys) c.*275T>A (n.*275T>A) c.384T>A (p.Asn128Lys) c.471T>A (p.Asn157Lys) | |
| X | g.154993048_154993049delinsAT | CA2466856537 | F8 | c.488_489delinsAT (p.Asn163=) c.*274_*275delinsAT (n.*274_*275delinsAT) c.383_384delinsAT (p.Asn128=) c.470_471delinsAT (p.Asn157=) | |
| X | g.154993049T>A | CA414919604 | F8 | c.488A>T (p.Asn163Ile) c.*274A>T (n.*274A>T) c.383A>T (p.Asn128Ile) c.470A>T (p.Asn157Ile) | |
| X | g.154993049T>C | CA414919605 | F8 | c.488A>G (p.Asn163Ser) c.*274A>G (n.*274A>G) c.383A>G (p.Asn128Ser) c.470A>G (p.Asn157Ser) | |
| X | g.154993049T>G | CA414919606 | F8 | c.488A>C (p.Asn163Thr) c.*274A>C (n.*274A>C) c.383A>C (p.Asn128Thr) c.470A>C (p.Asn157Thr) | |
| X | g.154993050del | CA873356039 | F8 | c.488del (p.Asn163MetfsTer22) c.*274del (n.*274del) c.383del (p.Asn128MetfsTer22) c.470del (p.Asn157MetfsTer?) | dbSNP |
| X | g.154993050T>A | CA414919607 | F8 | c.487A>T (p.Asn163Tyr) c.*273A>T (n.*273A>T) c.382A>T (p.Asn128Tyr) c.469A>T (p.Asn157Tyr) | |
| X | g.154993050T>C | CA414919608 | F8 | c.487A>G (p.Asn163Asp) c.*273A>G (n.*273A>G) c.382A>G (p.Asn128Asp) c.469A>G (p.Asn157Asp) | |
| X | g.154993050T>G | CA414919609 | F8 | c.487A>C (p.Asn163His) c.*273A>C (n.*273A>C) c.382A>C (p.Asn128His) c.469A>C (p.Asn157His) | |
| X | g.154993053_154993054del | CA2695238456 | F8 | c.486_487del (p.Asn163TrpfsTer6) c.*272_*273del (n.*272_*273del) c.381_382del (p.Asn128TrpfsTer6) c.468_469del (p.Asn157TrpfsTer6) | |
| X | g.154993051C>A | CA414919610 | F8 | c.486G>T (p.Glu162Asp) c.*272G>T (n.*272G>T) c.381G>T (p.Glu127Asp) c.468G>T (p.Glu156Asp) | |
| X | g.154993051C= | CA2466856538 | F8 | c.486G= (p.Glu162=) c.*272G= (n.*272G=) c.381G= (p.Glu127=) c.468G= (p.Glu156=) | |
| X | g.154993051C>G | CA414919611 | F8 | c.486G>C (p.Glu162Asp) c.*272G>C (n.*272G>C) c.381G>C (p.Glu127Asp) c.468G>C (p.Glu156Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154993051C>T | CA519372694 | F8 | c.486G>A (p.Glu162=) c.*272G>A (n.*272G>A) c.381G>A (p.Glu127=) c.468G>A (p.Glu156=) |