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.155022410_155022723del | CA1139532180 | F8 | c.-170_143+1del c.38+4058_38+4371del (n.38+4058_38+4371del) c.39-226_125+1del | |
| X | g.155022467_155022481del | CA2695238537 | F8 | c.72_86del (p.Tyr24Ter) c.38+4299_38+4313del (n.38+4299_38+4313del) c.54_68del (p.Tyr18Ter) | |
| X | g.155022476A= | CA2466865431 | F8 | c.77T= (p.Leu26=) c.38+4304T= (n.38+4304T=) c.59T= (p.Leu20=) | |
| X | g.155022476A>C | CA255046 | F8 | c.77T>G (p.Leu26Arg) c.38+4304T>G (n.38+4304T>G) c.59T>G (p.Leu20Arg) | ClinVar dbSNP |
| X | g.155022476A>G | CA414920574 | F8 | c.77T>C (p.Leu26Pro) c.38+4304T>C (n.38+4304T>C) c.59T>C (p.Leu20Pro) | |
| X | g.155022476A>T | CA414920573 | F8 | c.77T>A (p.Leu26Gln) c.38+4304T>A (n.38+4304T>A) c.59T>A (p.Leu20Gln) | |
| X | g.155022477G>A | CA519388692 | F8 | c.76C>T (p.Leu26=) c.38+4303C>T (n.38+4303C>T) c.58C>T (p.Leu20=) | |
| X | g.155022477G>C | CA414920575 | F8 | c.76C>G (p.Leu26Val) c.38+4303C>G (n.38+4303C>G) c.58C>G (p.Leu20Val) | |
| X | g.155022477G>T | CA414920576 | F8 | c.76C>A (p.Leu26Met) c.38+4303C>A (n.38+4303C>A) c.58C>A (p.Leu20Met) | |
| X | g.155022478G>A | CA519388700 | F8 | c.75C>T (p.Tyr25=) c.38+4302C>T (n.38+4302C>T) c.57C>T (p.Tyr19=) | |
| X | g.155022478G>C | CA414920577 | F8 | c.75C>G (p.Tyr25Ter) c.38+4302C>G (n.38+4302C>G) c.57C>G (p.Tyr19Ter) | dbSNP |
| X | g.155022478G= | CA2466865432 | F8 | c.75C= (p.Tyr25=) c.38+4302C= (n.38+4302C=) c.57C= (p.Tyr19=) | |
| X | g.155022478G>T | CA414920578 | F8 | c.75C>A (p.Tyr25Ter) c.38+4302C>A (n.38+4302C>A) c.57C>A (p.Tyr19Ter) | |
| X | g.155022478_155022480delinsCTG | CA2695238540 | F8 | c.73_75delinsCAG (p.Tyr25Gln) c.38+4300_38+4302delinsCAG (n.38+4300_38+4302delinsCAG) c.55_57delinsCAG (p.Tyr19Gln) | |
| X | g.155022481_155022483del | CA2695238539 | F8 | c.73_75del (p.Tyr25del) c.38+4300_38+4302del (n.38+4300_38+4302del) c.55_57del (p.Tyr19del) | |
| X | g.155022479T>A | CA414920579 | F8 | c.74A>T (p.Tyr25Phe) c.38+4301A>T (n.38+4301A>T) c.56A>T (p.Tyr19Phe) | |
| X | g.155022479T>C | CA414920580 | F8 | c.74A>G (p.Tyr25Cys) c.38+4301A>G (n.38+4301A>G) c.56A>G (p.Tyr19Cys) | ClinVar dbSNP |
| X | g.155022479T>G | CA414920581 | F8 | c.74A>C (p.Tyr25Ser) c.38+4301A>C (n.38+4301A>C) c.56A>C (p.Tyr19Ser) | |
| X | g.155022480A>C | CA414920582 | F8 | c.73T>G (p.Tyr25Asp) c.38+4300T>G (n.38+4300T>G) c.55T>G (p.Tyr19Asp) | |
| X | g.155022480A>G | CA414920583 | F8 | c.73T>C (p.Tyr25His) c.38+4300T>C (n.38+4300T>C) c.55T>C (p.Tyr19His) | gnomAD v4 |
| X | g.155022480A>T | CA414920584 | F8 | c.73T>A (p.Tyr25Asn) c.38+4300T>A (n.38+4300T>A) c.55T>A (p.Tyr19Asn) | |
| X | g.155022480dup | CA2695238541 | F8 | c.73dup (p.Tyr25LeufsTer15) c.38+4300dup (n.38+4300dup) c.55dup (p.Tyr19LeufsTer15) | |
| X | g.155022481G>A | CA519388722 | F8 | c.72C>T (p.Tyr24=) c.38+4299C>T (n.38+4299C>T) c.54C>T (p.Tyr18=) | |
| X | g.155022481G>C | CA414920585 | F8 | c.72C>G (p.Tyr24Ter) c.38+4299C>G (n.38+4299C>G) c.54C>G (p.Tyr18Ter) | dbSNP |
| X | g.155022481G= | CA2466865433 | F8 | c.72C= (p.Tyr24=) c.38+4299C= (n.38+4299C=) c.54C= (p.Tyr18=) | |
| X | g.155022481G>T | CA414920586 | F8 | c.72C>A (p.Tyr24Ter) c.38+4299C>A (n.38+4299C>A) c.54C>A (p.Tyr18Ter) | |
| X | g.155022482T>A | CA414920589 | F8 | c.71A>T (p.Tyr24Phe) c.38+4298A>T (n.38+4298A>T) c.53A>T (p.Tyr18Phe) | |
| X | g.155022482T>C | CA414920588 | F8 | c.71A>G (p.Tyr24Cys) c.38+4298A>G (n.38+4298A>G) c.53A>G (p.Tyr18Cys) | gnomAD v4 |
| X | g.155022482T>G | CA414920587 | F8 | c.71A>C (p.Tyr24Ser) c.38+4298A>C (n.38+4298A>C) c.53A>C (p.Tyr18Ser) | |
| X | g.155022482_155022483insGGCACTAAAGC | CA2695238942 | F8 | c.70_71insGCTTTAGTGCC (p.Tyr24CysfsTer?) c.70_71insGCTTTAGTGCC (p.Tyr24CysfsTer25) c.38+4297_38+4298insGCTTTAGTGCC (n.38+4297_38+4298insGCTTTAGTGCC) c.52_53insGCTTTAGTGCC (p.Tyr18CysfsTer?) | |
| X | g.155022483A>C | CA414920590 | F8 | c.70T>G (p.Tyr24Asp) c.38+4297T>G (n.38+4297T>G) c.52T>G (p.Tyr18Asp) | |
| X | g.155022483A>G | CA414920591 | F8 | c.70T>C (p.Tyr24His) c.38+4297T>C (n.38+4297T>C) c.52T>C (p.Tyr18His) | COSMIC COSMIC |
| X | g.155022483A>T | CA414920592 | F8 | c.70T>A (p.Tyr24Asn) c.38+4297T>A (n.38+4297T>A) c.52T>A (p.Tyr18Asn) | |
| X | g.155022484T>A | CA414920593 | F8 | c.69A>T (p.Arg23Ser) c.38+4296A>T (n.38+4296A>T) c.51A>T (p.Arg17Ser) | |
| X | g.155022484T>C | CA10568648 | F8 | c.69A>G (p.Arg23=) c.38+4296A>G (n.38+4296A>G) c.51A>G (p.Arg17=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.155022484T>G | CA414920594 | F8 | c.69A>C (p.Arg23Ser) c.38+4296A>C (n.38+4296A>C) c.51A>C (p.Arg17Ser) | |
| X | g.155022484T= | CA2466865434 | F8 | c.69A= (p.Arg23=) c.38+4296A= (n.38+4296A=) c.51A= (p.Arg17=) | |
| X | g.155022485C>A | CA414920595 | F8 | c.68G>T (p.Arg23Ile) c.38+4295G>T (n.38+4295G>T) c.50G>T (p.Arg17Ile) | |
| X | g.155022485C>G | CA414920596 | F8 | c.68G>C (p.Arg23Thr) c.38+4295G>C (n.38+4295G>C) c.50G>C (p.Arg17Thr) | |
| X | g.155022485C>T | CA414920597 | F8 | c.68G>A (p.Arg23Lys) c.38+4295G>A (n.38+4295G>A) c.50G>A (p.Arg17Lys) | |
| X | g.155022486T>A | CA414920598 | F8 | c.67A>T (p.Arg23Ter) c.38+4294A>T (n.38+4294A>T) c.49A>T (p.Arg17Ter) | |
| X | g.155022486T>C | CA414920599 | F8 | c.67A>G (p.Arg23Gly) c.38+4294A>G (n.38+4294A>G) c.49A>G (p.Arg17Gly) | |
| X | g.155022486T>G | CA519388756 | F8 | c.67A>C (p.Arg23=) c.38+4294A>C (n.38+4294A>C) c.49A>C (p.Arg17=) | |
| X | g.155022487T>A | CA414920600 | F8 | c.66A>T (p.Arg22Ser) c.38+4293A>T (n.38+4293A>T) c.48A>T (p.Arg16Ser) | |
| X | g.155022487T>C | CA519388761 | F8 | c.66A>G (p.Arg22=) c.38+4293A>G (n.38+4293A>G) c.48A>G (p.Arg16=) | |
| X | g.155022487T>G | CA414920601 | F8 | c.66A>C (p.Arg22Ser) c.38+4293A>C (n.38+4293A>C) c.48A>C (p.Arg16Ser) | |
| X | g.155022488C>A | CA414920604 | F8 | c.65G>T (p.Arg22Ile) c.38+4292G>T (n.38+4292G>T) c.47G>T (p.Arg16Ile) | |
| X | g.155022488C= | CA2466865435 | F8 | c.65G= (p.Arg22=) c.38+4292G= (n.38+4292G=) c.47G= (p.Arg16=) | |
| X | g.155022488C>G | CA414920602 | F8 | c.65G>C (p.Arg22Thr) c.38+4292G>C (n.38+4292G>C) c.47G>C (p.Arg16Thr) | |
| X | g.155022488C>T | CA414920603 | F8 | c.65G>A (p.Arg22Lys) c.38+4292G>A (n.38+4292G>A) c.47G>A (p.Arg16Lys) | ClinVar dbSNP |