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 |
|---|---|---|---|---|---|
| 11 | g.116830247_116836307delinsAGACAGAGGGCCTGAGGCAGGAGATGAGCAAGGATCTGGAGGAGGTGAAGGCCAAGGTGCAGCCCTACCTGGACGACTTCCAGAAGAAGTGGCAGGAGGAGATGGAGCTCTACCGCCAGAAGGTGGAGCCGCTGCGCGCAGAGCTCCAAGAGGGCGCGCGCCAGAAGCTGCACGAGCTGCAAGAGAAGCTGAGCCCACTGGGCGAGGAGATGCGCGACCGCGCGCGCGCCCATGTGGACGCGCTGCGCACGCATCTGGCCCCCTACAGCGACGAGCTGCGCCAGCGCTTGGCCGCGCGCCTTGAGGCTCTCAAGGAGAACGGCGGCGCCAGACTGGCCGAGTACCACGCCAAGGCCACCGAGCATCTGAGCACGCTCAGCGAGAAGGCCAAGCCCGCGCTCGAGGACCTCCGCCAAGGCCTGCTGCCCGTGCTGGAGAGCTTCAAGGTCAGCTTCCTGAGCGCTCTCGAGGAGTACACTAAGAAGCTCAACACCCAGTGAGGCGCCCGCCGCCGCCCCCCTTCCCGGTGCTCAGAATAAACGTTTCCAAAGTGGGAAGCAGCTTCTTTCTTTTGGGAGAATAGAGGGGGGTGCGGGGACATCCGGGGGAGCCCGGGTGGGGCCTTTGGCCCTGGAGCAGGGACTTCCTGCCGGATCTCAACAACTCCGTGCCCAGACTGGACGTCTTAGGGCCAAGATCGACGTTGGAGGACCTGCTGGACGCCTGGCTGCTTACGAGTGAGGGAGTAGAGTCTGCCTTAGCAAGGCTCAAGTAGAAAGGAAGTCACAGCGGACCAGGCAAAGCCACAGACAATCCAAGGCCAGGTGCCCTGAAAGGGGCTCAAACAAGGCCTGCAGCCCTGTCTGAGGCGGGCCAGGAAACAGGGTTGCTTTAGCTGGGAGCAGTGGGTTCCCCGTCCCCAGAGGTGTGTCCGTATAGAGCCTTCTCCAGCCCAGCCGCTGTCAGCGGGGCGGGACGGAGCGGGGCGGCCTCAGGGAGCCAGCCACTGGGATTGGGGTTTGGTCCCGGGTGCAAGTGAAGCGCTTGGAGTTTGCGCCTGTCCTCCTTTACTAATTCAAAAACCTCTCAAACAGACACTTCCCTTTTCTTCTCACAAGGCCAGTATCCCCCTCCCACTACTCCCATCCCGCCCAGAAACAGCCGCGGCTTCCTCAGGCACAGCAGTGGAAGCCAGTCCTCCACCCCCTGCGGCTCCATGCCATGCCACCCCCTCTTTCTGCCAGCCCTGGCAGAAGCTGGCCTGAGTAAGAAAATTCACCACCACCTCTTGCAGGTACATTTTTATTTCCAAGATGCTCTCATATCTGTGCTCTCACTGCATCCTCCCTTCCCCACATCCTGGCTAGATTGCCATCAGACGCAGAGCATGGATGAGGACACTGAAGCCTGGACCTGTGACGTCGCTTGCCCAGTGAACAGCAGGATGGGCTAGGCCGCGCTTTTTAGACCCTGCACCCCTGGCCATCCATGATTATTGAAAAGAGTGCGCGGGTCGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGTATCACTTCAGGCCAGGAGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATCAGCTGGGCATGGTGGCTTGCACCCGTAATCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGCGACGGAGCAAGACTCCAGCTAAAAAAAAAAAAAAAAAAAAAAGAGTGTGTGGCCTGGCACTCAAGTTCACATGGGTGTGCAGGCATGCCTGTGTATTCTCACATGACCTCCCTGCTCACGGTCCCTCCTTGCACTCATGTCTGAATGTCCCCGCGTGCACGCACATGGCTTCACAGATCTGGGCAGTGCCTTCCCTACCCTCTCTCTGCAGGGCCTTTTGCCCCCTCATGCAGGCCCCTGGATAATCGGCCCCATCCCCATGTCCCCATCTCCAGTGTATCTTAGCTACCCTAGGTAAAGGAGTGGGCTTTTTAGTTCCTAACCTTCCAGAGCTACAACAGCAGTCATCCAGCCAGGTCTGGGTGGGAACATTTTCTAGATACGGGTGCTGAGATCTCTCAGCCCAGAGAGAAGCCCTGGGGAATTTTCAGAGAGAAAGCAGTCTCCAGGTGGGGCTGGATGTACTGATGCCACTGAGATCTGTAAAGGAGTCCCTAACACCTGACATAGGAGTGACAAAACTGTTTTCTGCACCAACTGAGCAGAATACACGCAGCTGACCTGGGCTCAAGGTCTGGCCCTGCCACGTGCTGGCTCTGTGATGCTGGCCAAGTGCCTTCGCCTCTCCGGGCCACAGTTTTTTGATCTGAAGAGTGGAGCCCTACTCAAGCCATCTGCAGCTCTCGGGCTCTCTGACCTGACATCTTTCGGGTGGTGGGGACACAAAGGAAGCAGCCTCTATTGGGAGACCTTGTGCTTCTTTTTGGTCCCAGGACACTGCCCCCCACCACTCCAGTCCGGGTCCCAAGGGCCCAGTCAGCTCAACTGTAATCATGACAACATTGATCAAGCATCTTTACGTGCAGGTGCTGTGCCAAACGGTTCGAACGCTCTCTCATTTCAATCTCACGGCAAACCTACGGTGGAGGGGGTACGGTTGTATCCACTTTACATGTAAGAAACTGAGGCTGATATCAAGTGGTGGAGCCAAGAATAGTGCCTCGTTGCATCTTACTCCAACCTCTAGCCCATCCGGCCTCCTCCCTTCACGTGCGCCTAAGAGGGCTAGGGGGCCTGGATAGGGGAGGTCAGCTCCACAGTTTTGAGTAAACACACACAGTCTCAACTCTGATGACAACTTAAGTGCCAGGCATAGTGGCTGGCATGGGGCACACACTCAAGTCATGTTGTGCAGCACCTAACAGTTTATCAAAGTATCAGCAAACTTATTGTCCTGTTTGACCTTCCGCACAAAGCTGTCAAGGAAGGCAGGGTACGGAGGGTGATTCCTACCTTAGAGATGAAGAAACTGAGGCCCAGAGACTGCCCAGCTACCAGAAGGTGGATAGAGCGCTGGCCTCCATGCCTGCCTGACCTGGAGTCTGTCCAGTGCCCACCCACAGAACAGCCTCGGCCCTTTCCCATGCCCAGACACAGATGGCACACTTGCGACGGCCCACTCATAGCAGCTTCTTGTCCAGCTTTATTGGGAGGCCAGCATGCCTGGAGGGGGGCCAGGCATGAGGTGGGGTAGGAGAGCACTGAGAATACTGTCCCTTTTAAGCAACCTACAGGGGCAGCCCTGGAGATTGCAGGACCCAAGGAGCTCGCAGGATGGATAGGCAGGTGGACTTGGGGTATTGAGGTCTCAGGCAGCCACGGCTGAAGTTGGTCTGACCTCAGGGTCCAAATCCCAGAACTCAGAGAACTTGTCCTTAACGGTGCTCCAGTAGTCTTTCAGGGAACTGAAGCCATCGGTCACCCAGCCCCTAAATCAGTCAGGGGAAGCAACAGAGCAGGGCATGAGAACTCCTCTGTAGGCAACCATGGGACCCACACCCATGTCCCCACTGGACGACACCAGTCAGGACCACACCACCCTCTCAACTTCACTGGACGACAGCCCTGAGACCTCAGGCAGGAATCCCCCACAGCTGCCACCCTGGGAGAAGAGATATCCTTGCAGGAACCCCAGCACAAGTCAAACCCTGCCATCTCCAGGTCACCTCAGATGTTTATGCCCCTGGGCCTGAGGCACAAAGTGACAGGGTGGGGAGATGTGAAAGGTCAAGGCTGTCATTGTTTTCTGTGCAAACAGCACCGCCTGGAGTTGCACAACCTGGTGGCTCTGAGCAGGGTAGGACAGAGGGAGGCAGCCTCTCATTTGGAAAGTCATTGGAGGATTGATTAGTTGTGTGATCTGGGGCAGGTCACCTAATCGCTCTGAGCCTCAATTTTCTCATCTGCAAAGTGAGAAAATAACACCTACCCCAAAGCCGGTTCTGGGGACTAAGAATGTTTATGAACACCTCTGCTATGCCAGCTAATGCCAGTCAGGGTGAGGTGGAGAAGGGAGTAGGGGAGAGGAGAGTACTGATGGGCAGGGGCAGGATGGGAGAGGAAGGACACACTTCTGCTCACACTGGCCCCAGGTCTTAGAACAAAGCAGAAGCACTCACGGGCTTGAATTGGGTCAGGTGGGGCCTCCCAAGGCAAACCCCTAGCCCAGGGGTCCCCAACCCCCAAGTCATAGATAGGTACTGGTCCATGGACTGTTAGGAGCCGGGCTGCACAGCACGAAGTGAGTGGTGGGTGAGTGAGCAATACCGCCTGAGCTCCGCCTCCTGTCAGATCAAGTGGCCTTACATTCTCATAGGAGTGTGAACCCTATTGTGAACTGCACATGCCAGGGATCTAGGTGGAGGGCTCCTTATGAGAATCTAATGCCTGATGATCTGAGGTGGAACAGCTTCATCCCAAAACCATCCCCGCTGGCCCATGGAAAAATTGTCCACCACAAAACTGGTCCCTGGTGCCAAAAAGGCTGAGGACCACTGCTCTAGCCAGACCTTCAGAAAAGGAAAATGGGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCCCCTGAGGTCAGGAATTCAAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTGCTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGGTTGAACCCGGGAGACGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTAGGTGACAGAGGGAGACTCCATTAAAAAAAAAAGAAGAAGAAAGAAAGAGAGAAAGGAAGAGAGGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAAGAGAAAGAAAGGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATAGAAAGAGAAAGAAAGGGAAAGGAAAGGAAAATGGAAATGAGGGCTAAAACGGCACGCCCTAGGACTGCTCCGGGGAGAAAGGAGGGACCTGGGAGGAATGCAGTCTCAACTCTGTCATCTCTCCCGCAGCAGCCTGACAAAGGCCCTGTGAGGAAAGAGGAGGCTGAAGAGGCACAGGCCCAGGGGAGGCTGGAGCACCTCCATTCCATTGTTGGGATCTCACCAGGGCAGGGGCGGGTGGGAATGGAGGCAGCTGGCAGGGGGGATGGGGAGGGAGGCCAGCGGGTGTACCTGGCCTGCTGGGCCACCTGGGACTCCTGCACGCTGCTCAGTGCATCCTTGGCGGTCTTGGTGGCGTGCTTCATGTAACCCTGCATGAAGCTGAGAAGGGAGGCATCCTCGGCCTCTGAAGCTCCTGAGGAAAGAGCAGGGCTGAGTGGGGTGGATCGGCCTCTGGACGAGCCCTGGGCTCCTGCTTGACCACCCATTGGGACTGGGATCCCCAAGTTGCCTCCACCCTGCCCCCAGCCCAGTCCCACCAAGTGCTTACGGGCAGAGGCCAGGAGCGCCAGGAGGGCAACAACAAGGAGTACCCGGGGCTGCATGGCACCTCTGTTCCTGCAAGGAAGTGTCCTGTGAGGGGCACCCCAGGTCCCCATGCCTCTGGACCCCTCCCTGGGGAGGTGGCGTGGCCCCTAAGGTAGAACCTTAGCTGGGTCTGCCAGAAGGAGTAGGGGCCGGCTCCCTGCTAATACGGGCTCTCAGAAGGGGGACTGGTGAGGGGCGAGGGATCGAGGCCCAAAGGGAGGTGGGTGGGATGGAGCAGAAAACCCACCAGACTGAACATCAAGGCACCTGCGGTCTGGACTGATCTCCGTCCAGTCCAGCCAACATGCTGTGTGTCTTTGGGTGATTTCTGGCCCTCTCCAGGCCTCAGTTTC | CA2697558960 | ClinVar | ||
| 11 | g.116835970_116835977del | CA602136489 | APOA1 | c.637_644del (p.Leu213ValfsTer?) c.571_578del (p.Leu191ValfsTer?) c.310_317del (p.Leu104ValfsTer?) | gnomAD v2 gnomAD v4 |
| 11 | g.116835973C>A | CA477048610 | APOA1 | c.639G>T (p.Leu213=) c.573G>T (p.Leu191=) c.312G>T (p.Leu104=) | |
| 11 | g.116835973C>G | CA477048612 | APOA1 | c.639G>C (p.Leu213=) c.573G>C (p.Leu191=) c.312G>C (p.Leu104=) | |
| 11 | g.116835973C>T | CA477048611 | APOA1 | c.639G>A (p.Leu213=) c.573G>A (p.Leu191=) c.312G>A (p.Leu104=) | ClinVar |
| 11 | g.116835974A>C | CA382714799 | APOA1 | c.638T>G (p.Leu213Arg) c.572T>G (p.Leu191Arg) c.311T>G (p.Leu104Arg) | gnomAD v4 |
| 11 | g.116835974A>G | CA382714797 | APOA1 | c.638T>C (p.Leu213Pro) c.572T>C (p.Leu191Pro) c.311T>C (p.Leu104Pro) | |
| 11 | g.116835974A>T | CA382714795 | APOA1 | c.638T>A (p.Leu213Gln) c.572T>A (p.Leu191Gln) c.311T>A (p.Leu104Gln) | gnomAD v4 |
| 11 | g.116835975G>A | CA477048613 | APOA1 | c.637C>T (p.Leu213=) c.571C>T (p.Leu191=) c.310C>T (p.Leu104=) | |
| 11 | g.116835975G>C | CA6289769 | APOA1 | c.637C>G (p.Leu213Val) c.571C>G (p.Leu191Val) c.310C>G (p.Leu104Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835975G= | CA2002761820 | APOA1 | c.637C= (p.Leu213=) c.571C= (p.Leu191=) c.310C= (p.Leu104=) | |
| 11 | g.116835975G>T | CA382714804 | APOA1 | c.637C>A (p.Leu213Met) c.571C>A (p.Leu191Met) c.310C>A (p.Leu104Met) | |
| 11 | g.116835976T>A | CA382714807 | APOA1 | c.636A>T (p.Arg212Ser) c.570A>T (p.Arg190Ser) c.309A>T (p.Arg103Ser) | |
| 11 | g.116835976T>C | CA477048614 | APOA1 | c.636A>G (p.Arg212=) c.570A>G (p.Arg190=) c.309A>G (p.Arg103=) | |
| 11 | g.116835976T>G | CA382714813 | APOA1 | c.636A>C (p.Arg212Ser) c.570A>C (p.Arg190Ser) c.309A>C (p.Arg103Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835976T= | CA2002761821 | APOA1 | c.636A= (p.Arg212=) c.570A= (p.Arg190=) c.309A= (p.Arg103=) | |
| 11 | g.116835977C>A | CA382714816 | APOA1 | c.635G>T (p.Arg212Ile) c.569G>T (p.Arg190Ile) c.308G>T (p.Arg103Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835977C= | CA2002761822 | APOA1 | c.635G= (p.Arg212=) c.569G= (p.Arg190=) c.308G= (p.Arg103=) | |
| 11 | g.116835977C>G | CA382714818 | APOA1 | c.635G>C (p.Arg212Thr) c.569G>C (p.Arg190Thr) c.308G>C (p.Arg103Thr) | gnomAD v4 |
| 11 | g.116835977C>T | CA382714820 | APOA1 | c.635G>A (p.Arg212Lys) c.569G>A (p.Arg190Lys) c.308G>A (p.Arg103Lys) | dbSNP |
| 11 | g.116835978T>A | CA382714822 | APOA1 | c.634A>T (p.Arg212Ter) c.568A>T (p.Arg190Ter) c.307A>T (p.Arg103Ter) | |
| 11 | g.116835978T>C | CA6289770 | APOA1 | c.634A>G (p.Arg212Gly) c.568A>G (p.Arg190Gly) c.307A>G (p.Arg103Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.116835978T>G | CA477048615 | APOA1 | c.634A>C (p.Arg212=) c.568A>C (p.Arg190=) c.307A>C (p.Arg103=) | dbSNP gnomAD v2 |
| 11 | g.116835978T= | CA2002761823 | APOA1 | c.634A= (p.Arg212=) c.568A= (p.Arg190=) c.307A= (p.Arg103=) | |
| 11 | g.116835979G>A | CA477048616 | APOA1 | c.633C>T (p.Ala211=) c.567C>T (p.Ala189=) c.306C>T (p.Ala102=) | dbSNP |
| 11 | g.116835979G>C | CA477048617 | APOA1 | c.633C>G (p.Ala211=) c.567C>G (p.Ala189=) c.306C>G (p.Ala102=) | |
| 11 | g.116835979G= | CA2002761824 | APOA1 | c.633C= (p.Ala211=) c.567C= (p.Ala189=) c.306C= (p.Ala102=) | |
| 11 | g.116835979G>T | CA477048618 | APOA1 | c.633C>A (p.Ala211=) c.567C>A (p.Ala189=) c.306C>A (p.Ala102=) | |
| 11 | g.116835980G>A | CA382714826 | APOA1 | c.632C>T (p.Ala211Val) c.566C>T (p.Ala189Val) c.305C>T (p.Ala102Val) | |
| 11 | g.116835980G>C | CA382714828 | APOA1 | c.632C>G (p.Ala211Gly) c.566C>G (p.Ala189Gly) c.305C>G (p.Ala102Gly) | |
| 11 | g.116835980G>T | CA382714829 | APOA1 | c.632C>A (p.Ala211Asp) c.566C>A (p.Ala189Asp) c.305C>A (p.Ala102Asp) | |
| 11 | g.116835981C>A | CA382714839 | APOA1 | c.631G>T (p.Ala211Ser) c.565G>T (p.Ala189Ser) c.304G>T (p.Ala102Ser) | |
| 11 | g.116835981C>G | CA382714836 | APOA1 | c.631G>C (p.Ala211Pro) c.565G>C (p.Ala189Pro) c.304G>C (p.Ala102Pro) | |
| 11 | g.116835981C>T | CA382714833 | APOA1 | c.631G>A (p.Ala211Thr) c.565G>A (p.Ala189Thr) c.304G>A (p.Ala102Thr) | gnomAD v4 |
| 11 | g.116835982G>A | CA477048619 | APOA1 | c.630C>T (p.Gly210=) c.564C>T (p.Gly188=) c.303C>T (p.Gly101=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.116835982G>C | CA477048620 | APOA1 | c.630C>G (p.Gly210=) c.564C>G (p.Gly188=) c.303C>G (p.Gly101=) | dbSNP gnomAD v2 |
| 11 | g.116835982G= | CA2002761825 | APOA1 | c.630C= (p.Gly210=) c.564C= (p.Gly188=) c.303C= (p.Gly101=) | |
| 11 | g.116835982G>T | CA477048621 | APOA1 | c.630C>A (p.Gly210=) c.564C>A (p.Gly188=) c.303C>A (p.Gly101=) | gnomAD v4 |
| 11 | g.116835983C>A | CA382714847 | APOA1 | c.629G>T (p.Gly210Val) c.563G>T (p.Gly188Val) c.302G>T (p.Gly101Val) | |
| 11 | g.116835983C>G | CA382714849 | APOA1 | c.629G>C (p.Gly210Ala) c.563G>C (p.Gly188Ala) c.302G>C (p.Gly101Ala) | |
| 11 | g.116835983C>T | CA382714848 | APOA1 | c.629G>A (p.Gly210Asp) c.563G>A (p.Gly188Asp) c.302G>A (p.Gly101Asp) | gnomAD v4 |
| 11 | g.116835984C>A | CA382714851 | APOA1 | c.628G>T (p.Gly210Cys) c.562G>T (p.Gly188Cys) c.301G>T (p.Gly101Cys) | |
| 11 | g.116835984C>G | CA382714853 | APOA1 | c.628G>C (p.Gly210Arg) c.562G>C (p.Gly188Arg) c.301G>C (p.Gly101Arg) | |
| 11 | g.116835984C>T | CA382714855 | APOA1 | c.628G>A (p.Gly210Ser) c.562G>A (p.Gly188Ser) c.301G>A (p.Gly101Ser) | |
| 11 | g.116835985G>A | CA477048622 | APOA1 | c.627C>T (p.Gly209=) c.561C>T (p.Gly187=) c.300C>T (p.Gly100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.116835985G>C | CA477048623 | APOA1 | c.627C>G (p.Gly209=) c.561C>G (p.Gly187=) c.300C>G (p.Gly100=) | |
| 11 | g.116835985G= | CA2002761826 | APOA1 | c.627C= (p.Gly209=) c.561C= (p.Gly187=) c.300C= (p.Gly100=) | |
| 11 | g.116835985G>T | CA477048624 | APOA1 | c.627C>A (p.Gly209=) c.561C>A (p.Gly187=) c.300C>A (p.Gly100=) | gnomAD v4 |
| 11 | g.116835986C>A | CA382714857 | APOA1 | c.626G>T (p.Gly209Val) c.560G>T (p.Gly187Val) c.299G>T (p.Gly100Val) | gnomAD v4 |
| 11 | g.116835986C>G | CA382714870 | APOA1 | c.626G>C (p.Gly209Ala) c.560G>C (p.Gly187Ala) c.299G>C (p.Gly100Ala) | gnomAD v4 |