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.139561610A>C | CA414444801 | F9 | c.925A>C (p.Ile309Leu) n.1592A>C c.811A>C (p.Ile271Leu) c.796A>C (p.Ile266Leu) | |
| X | g.139561610A>G | CA414444802 | F9 | c.925A>G (p.Ile309Val) n.1592A>G c.811A>G (p.Ile271Val) c.796A>G (p.Ile266Val) | |
| X | g.139561610A>T | CA414444803 | F9 | c.925A>T (p.Ile309Phe) n.1592A>T c.811A>T (p.Ile271Phe) c.796A>T (p.Ile266Phe) | |
| X | g.139561611T>A | CA414444806 | F9 | c.926T>A (p.Ile309Asn) n.1593T>A c.812T>A (p.Ile271Asn) c.797T>A (p.Ile266Asn) | |
| X | g.139561611T>C | CA414444808 | F9 | c.926T>C (p.Ile309Thr) n.1593T>C c.812T>C (p.Ile271Thr) c.797T>C (p.Ile266Thr) | |
| X | g.139561611T>G | CA414444804 | F9 | c.926T>G (p.Ile309Ser) n.1593T>G c.812T>G (p.Ile271Ser) c.797T>G (p.Ile266Ser) | |
| X | g.139561612T>A | CA518916498 | F9 | c.927T>A (p.Ile309=) n.1594T>A c.813T>A (p.Ile271=) c.798T>A (p.Ile266=) | |
| X | g.139561612T>C | CA518916499 | F9 | c.927T>C (p.Ile309=) n.1594T>C c.813T>C (p.Ile271=) c.798T>C (p.Ile266=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.139561612T>G | CA414444811 | F9 | c.927T>G (p.Ile309Met) n.1594T>G c.813T>G (p.Ile271Met) c.798T>G (p.Ile266Met) | |
| X | g.139561612T= | CA2461412099 | F9 | c.927T= (p.Ile309=) n.1594T= c.813T= (p.Ile271=) c.798T= (p.Ile266=) | |
| X | g.139561613A>C | CA414444813 | F9 | c.928A>C (p.Asn310His) n.1595A>C c.814A>C (p.Asn272His) c.799A>C (p.Asn267His) | |
| X | g.139561613A>G | CA414444814 | F9 | c.928A>G (p.Asn310Asp) n.1595A>G c.814A>G (p.Asn272Asp) c.799A>G (p.Asn267Asp) | gnomAD v4 |
| X | g.139561613A>T | CA414444815 | F9 | c.928A>T (p.Asn310Tyr) n.1595A>T c.814A>T (p.Asn272Tyr) c.799A>T (p.Asn267Tyr) | |
| X | g.139561614A>C | CA414444817 | F9 | c.929A>C (p.Asn310Thr) n.1596A>C c.815A>C (p.Asn272Thr) c.800A>C (p.Asn267Thr) | |
| X | g.139561614A>G | CA414444821 | F9 | c.929A>G (p.Asn310Ser) n.1596A>G c.815A>G (p.Asn272Ser) c.800A>G (p.Asn267Ser) | |
| X | g.139561614A>T | CA414444823 | F9 | c.929A>T (p.Asn310Ile) n.1596A>T c.815A>T (p.Asn272Ile) c.800A>T (p.Asn267Ile) | |
| X | g.139561615T>A | CA414444827 | F9 | c.930T>A (p.Asn310Lys) n.1597T>A c.816T>A (p.Asn272Lys) c.801T>A (p.Asn267Lys) | |
| X | g.139561615T>C | CA518916507 | F9 | c.930T>C (p.Asn310=) n.1597T>C c.816T>C (p.Asn272=) c.801T>C (p.Asn267=) | gnomAD v4 |
| X | g.139561615T>G | CA414444828 | F9 | c.930T>G (p.Asn310Lys) n.1597T>G c.816T>G (p.Asn272Lys) c.801T>G (p.Asn267Lys) | |
| X | g.139561616A>C | CA414444829 | F9 | c.931A>C (p.Lys311Gln) n.1598A>C c.817A>C (p.Lys273Gln) c.802A>C (p.Lys268Gln) | |
| X | g.139561616A>G | CA414444830 | F9 | c.931A>G (p.Lys311Glu) n.1598A>G c.817A>G (p.Lys273Glu) c.802A>G (p.Lys268Glu) | |
| X | g.139561616A>T | CA414444832 | F9 | c.931A>T (p.Lys311Ter) n.1598A>T c.817A>T (p.Lys273Ter) c.802A>T (p.Lys268Ter) | |
| X | g.139561617del | CA2695236290 | F9 | c.932del (p.Lys311SerfsTer15) n.1599del c.818del (p.Lys273SerfsTer15) c.803del (p.Lys268SerfsTer15) | |
| X | g.139561617A= | CA2461412100 | F9 | c.932A= (p.Lys311=) n.1599A= c.818A= (p.Lys273=) c.803A= (p.Lys268=) | |
| X | g.139561617A>C | CA414444836 | F9 | c.932A>C (p.Lys311Thr) n.1599A>C c.818A>C (p.Lys273Thr) c.803A>C (p.Lys268Thr) | |
| X | g.139561617A>G | CA414444837 | F9 | c.932A>G (p.Lys311Arg) n.1599A>G c.818A>G (p.Lys273Arg) c.803A>G (p.Lys268Arg) | |
| X | g.139561617A>T | CA414444835 | F9 | c.932A>T (p.Lys311Met) n.1599A>T c.818A>T (p.Lys273Met) c.803A>T (p.Lys268Met) | dbSNP |
| X | g.139561618G>A | CA518916514 | F9 | c.933G>A (p.Lys311=) n.1600G>A c.819G>A (p.Lys273=) c.804G>A (p.Lys268=) | gnomAD v4 |
| X | g.139561618G>C | CA414444839 | F9 | c.933G>C (p.Lys311Asn) n.1600G>C c.819G>C (p.Lys273Asn) c.804G>C (p.Lys268Asn) | |
| X | g.139561618G= | CA2461412101 | F9 | c.933G= (p.Lys311=) n.1600G= c.819G= (p.Lys273=) c.804G= (p.Lys268=) | |
| X | g.139561618G>T | CA414444840 | F9 | c.933G>T (p.Lys311Asn) n.1600G>T c.819G>T (p.Lys273Asn) c.804G>T (p.Lys268Asn) | dbSNP |
| X | g.139561619T>A | CA414444842 | F9 | c.934T>A (p.Tyr312Asn) n.1601T>A c.820T>A (p.Tyr274Asn) c.805T>A (p.Tyr269Asn) | |
| X | g.139561619T>C | CA414444843 | F9 | c.934T>C (p.Tyr312His) n.1601T>C c.820T>C (p.Tyr274His) c.805T>C (p.Tyr269His) | |
| X | g.139561619T>G | CA414444845 | F9 | c.934T>G (p.Tyr312Asp) n.1601T>G c.820T>G (p.Tyr274Asp) c.805T>G (p.Tyr269Asp) | ClinVar dbSNP |
| X | g.139561619T= | CA2461412102 | F9 | c.934T= (p.Tyr312=) n.1601T= c.820T= (p.Tyr274=) c.805T= (p.Tyr269=) | |
| X | g.139561619_139561620delinsTA | CA2461412103 | F9 | c.934_935delinsTA (p.Tyr312=) n.1601_1602delinsTA c.820_821delinsTA (p.Tyr274=) c.805_806delinsTA (p.Tyr269=) | |
| X | g.139561620del | CA2461412104 | F9 | c.935del (p.Tyr312SerfsTer14) n.1602del c.821del (p.Tyr274SerfsTer14) c.806del (p.Tyr269SerfsTer14) | dbSNP |
| X | g.139561620A>C | CA414444851 | F9 | c.935A>C (p.Tyr312Ser) n.1602A>C c.821A>C (p.Tyr274Ser) c.806A>C (p.Tyr269Ser) | |
| X | g.139561620A>G | CA414444850 | F9 | c.935A>G (p.Tyr312Cys) n.1602A>G c.821A>G (p.Tyr274Cys) c.806A>G (p.Tyr269Cys) | |
| X | g.139561620A>T | CA414444848 | F9 | c.935A>T (p.Tyr312Phe) n.1602A>T c.821A>T (p.Tyr274Phe) c.806A>T (p.Tyr269Phe) | |
| X | g.139561621del | CA2695236292 | F9 | c.936del (p.Tyr312Ter) n.1603del c.822del (p.Tyr274Ter) c.807del (p.Tyr269Ter) | |
| X | g.139561621C>A | CA414444852 | F9 | c.936C>A (p.Tyr312Ter) n.1603C>A c.822C>A (p.Tyr274Ter) c.807C>A (p.Tyr269Ter) | dbSNP |
| X | g.139561621C= | CA2461412105 | F9 | c.936C= (p.Tyr312=) n.1603C= c.822C= (p.Tyr274=) c.807C= (p.Tyr269=) | |
| X | g.139561621C>G | CA414444854 | F9 | c.936C>G (p.Tyr312Ter) n.1603C>G c.822C>G (p.Tyr274Ter) c.807C>G (p.Tyr269Ter) | |
| X | g.139561621C>T | CA10529857 | F9 | c.936C>T (p.Tyr312=) n.1603C>T c.822C>T (p.Tyr274=) c.807C>T (p.Tyr269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.139561622A>C | CA414444855 | F9 | c.937A>C (p.Asn313His) n.1604A>C c.823A>C (p.Asn275His) c.808A>C (p.Asn270His) | |
| X | g.139561622A>G | CA414444856 | F9 | c.937A>G (p.Asn313Asp) n.1604A>G c.823A>G (p.Asn275Asp) c.808A>G (p.Asn270Asp) | |
| X | g.139561622A>T | CA414444857 | F9 | c.937A>T (p.Asn313Tyr) n.1604A>T c.823A>T (p.Asn275Tyr) c.808A>T (p.Asn270Tyr) | gnomAD v4 |
| X | g.139561623del | CA2695236293 | F9 | c.938del (p.Asn313ThrfsTer13) n.1605del c.824del (p.Asn275ThrfsTer13) c.809del (p.Asn270ThrfsTer13) | |
| X | g.139561623A= | CA2461412106 | F9 | c.938A= (p.Asn313=) n.1605A= c.824A= (p.Asn275=) c.809A= (p.Asn270=) |