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 |
|---|---|---|---|---|---|
| 1 | g.33008231_33013268del | CA658653735 | AK2 | c.636_*2601del c.636_*4953del (n.[c.636_*4953del;Ser213AspfsTer21]) c.*139_*2803del c.612_*2601del n.837_3501del c.492_*2601del c.636_*2650del c.510_*2601del n.624_3288del n.596_3260del c.492_*4953del (n.[c.492_*4953del;Ser165AspfsTer21]) c.*139_*5176del (n.*139_*5176del) | ClinVar |
| 1 | g.33010580_33013265del | CA1139771039 | AK2 | n.1788_4473del c.*625_*1249del c.*625_*937del n.1775_4460del c.*5518_*5830del n.1950_4635del c.*625_*986del c.*625_*2696del n.1788_3233del c.*442_*1887del c.510_*2601del (n.[c.510_*2601del;Ser171GlyfsTer?]) c.636_*249del n.671_2379del c.636_*2601del (n.[c.636_*2601del;Ser213GlyfsTer?]) c.510_*249del c.*139_*451del c.612_*249del n.837_1149del n.676_2121del n.581_893del c.492_*249del c.636_*298del n.624_936del n.581_2026del n.596_908del c.492_*2601del (n.[c.492_*2601del;Ser165GlyfsTer?]) c.*139_*2824del (n.*139_*2824del) | |
| 1 | g.33012389_33013265delinsGGTTTTCATCATGGGTTAGAAAACAAAATGGAATTCTCTGTCCATAATGTGCCATCAGGAACTGTGACCCTGCCTGACTTCACATGATCCTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGAAGGCTGCTAGGATGCTTGCGAACACGACATCGGGGGTCTGGGAT | CA1161300488 | AK2 | n.1788_2664delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.*625_*684-267delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.*625_*683+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.1775_2651delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.*5518_*5576+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.1950_2826delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.*625_*1501delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC (n.*625_*1501delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC) c.*442_*1318delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC (n.*442_*1318delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC) c.510_*792delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC (n.[c.510_*792delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC;Ala170=]) c.636_694+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.671_1547delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.636_*792delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC (n.[c.636_*792delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC;Ala212=]) c.636_695-267delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.23_82-267delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.510_568+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.*139_*197+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.612_670+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.837_895+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.837_1713delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.676_1552delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.581_639+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.492_550+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.492_*792delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC (n.[c.492_*792delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC;Ala164=]) n.624_682+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.581_1457delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC n.596_654+818delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC c.*139_*1015delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC (n.*139_*1015delinsATCCCAGACCCCCGATGTCGTGTTCGCAAGCATCCTAGCAGCCTTCTCCAAAGCCACATGTAAAGACTTGGTTATGTTTATCTAATGTTGGGTCCAAGAAGGAATTTCTTTCCATCCCTGTGAGGCAATGGGTGGGAATGATAGGACAGGCAAAGAGAAGCTTCCTCAGGCTAGCAAAAATATCATTTGATGTATTGATTAAAAAAGCACTTGCTTGATGTATCTTTGGCGTGTGTGCTACTCTCATCTGTGTGTATGTGTGTTGTGTGTGTGTGTGTGTGCATGCACATATGTGTTCACTCTGCTACTTTGTAAGTTTTAGGCTAGGTTGCTTTACCAGCTGTTTACTTCTTTTTTGTTGTTGTTTTGAGACAAGGTTTCGCTCTGCCACCCTGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACGGCAACCTCTGCCTCCTGGGGCTCAAGCAATTATCCCACCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCATGCCACAACACCTGGCTGATATTTGTATTTTTTGTAGAGACAGGATTTTGCCAAGTTGCCCAGGCTGGTCTTGAACTCCTAGGCTTAAGCAATCCACCCACCTTGGCCTCCTGAAGTGCCAGGATCACAGACGTGAGCCACTACACCCAGCCCAGCTGTTTACTTCTTTAACCATACTTTTGATTTTATTTTTTGACCAAAATGAACTAACCCAGGTAATCTTCCAGGGACCGCAATTCCAGAACCTCATAGTATTTCTTCCATTTCCAGCAGCTGATTAGAAGTCCAGGATCATGTGAAGTCAGGCAGGGTCACAGTTCCTGATGGCACATTATGGACAGAGAATTCCATTTTGTTTTCTAACCCATGATGAAAACC) | |
| 1 | g.33012391_33013266del | CA915941203 | AK2 | n.1788_2663del c.*625_*684-268del c.*625_*683+817del n.1775_2650del c.*5518_*5576+817del n.1950_2825del c.*625_*1500del (n.*625_*1500del) c.*442_*1317del (n.*442_*1317del) c.510_*791del (n.[c.510_*791del;Ser171HisfsTer11]) c.636_694+817del n.671_1546del c.636_*791del (n.[c.636_*791del;Ser213HisfsTer11]) c.636_695-268del n.23_82-268del c.510_568+817del c.*139_*197+817del c.612_670+817del n.837_895+817del n.837_1712del n.676_1551del n.581_639+817del c.492_550+817del c.492_*791del (n.[c.492_*791del;Ser165HisfsTer11]) n.624_682+817del n.581_1456del n.596_654+817del c.*139_*1014del (n.*139_*1014del) | ClinVar dbSNP |
| 1 | g.33013253G>A | CA747042 | AK2 | n.1800C>T c.*637C>T (n.*637C>T) n.1787C>T c.*5530C>T (n.*5530C>T) n.1962C>T c.*454C>T (n.*454C>T) c.522C>T (p.Pro174=) c.648C>T (p.Pro216=) n.683C>T c.*151C>T (n.*151C>T) n.35C>T c.624C>T (p.Pro208=) n.849C>T n.688C>T n.593C>T c.504C>T (p.Pro168=) n.636C>T n.608C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.33013253G>C | CA747043 | AK2 | n.1800C>G c.*637C>G (n.*637C>G) n.1787C>G c.*5530C>G (n.*5530C>G) n.1962C>G c.*454C>G (n.*454C>G) c.522C>G (p.Pro174=) c.648C>G (p.Pro216=) n.683C>G c.*151C>G (n.*151C>G) n.35C>G c.624C>G (p.Pro208=) n.849C>G n.688C>G n.593C>G c.504C>G (p.Pro168=) n.636C>G n.608C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.33013253G= | CA1143494210 | AK2 | n.1800C= c.*637C= (n.*637C=) n.1787C= c.*5530C= (n.*5530C=) n.1962C= c.*454C= (n.*454C=) c.522C= (p.Pro174=) c.648C= (p.Pro216=) n.683C= c.*151C= (n.*151C=) n.35C= c.624C= (p.Pro208=) n.849C= n.688C= n.593C= c.504C= (p.Pro168=) n.636C= n.608C= | |
| 1 | g.33013253G>T | CA417066483 | AK2 | n.1800C>A c.*637C>A (n.*637C>A) n.1787C>A c.*5530C>A (n.*5530C>A) n.1962C>A c.*454C>A (n.*454C>A) c.522C>A (p.Pro174=) c.648C>A (p.Pro216=) n.683C>A c.*151C>A (n.*151C>A) n.35C>A c.624C>A (p.Pro208=) n.849C>A n.688C>A n.593C>A c.504C>A (p.Pro168=) n.636C>A n.608C>A | |
| 1 | g.33013254G>A | CA339699119 | AK2 | n.1799C>T c.*636C>T (n.*636C>T) n.1786C>T c.*5529C>T (n.*5529C>T) n.1961C>T c.*453C>T (n.*453C>T) c.521C>T (p.Pro174Leu) c.647C>T (p.Pro216Leu) n.682C>T c.*150C>T (n.*150C>T) n.34C>T c.623C>T (p.Pro208Leu) n.848C>T n.687C>T n.592C>T c.503C>T (p.Pro168Leu) n.635C>T n.607C>T | |
| 1 | g.33013254G>C | CA339699121 | AK2 | n.1799C>G c.*636C>G (n.*636C>G) n.1786C>G c.*5529C>G (n.*5529C>G) n.1961C>G c.*453C>G (n.*453C>G) c.521C>G (p.Pro174Arg) c.647C>G (p.Pro216Arg) n.682C>G c.*150C>G (n.*150C>G) n.34C>G c.623C>G (p.Pro208Arg) n.848C>G n.687C>G n.592C>G c.503C>G (p.Pro168Arg) n.635C>G n.607C>G | |
| 1 | g.33013254G>T | CA339699123 | AK2 | n.1799C>A c.*636C>A (n.*636C>A) n.1786C>A c.*5529C>A (n.*5529C>A) n.1961C>A c.*453C>A (n.*453C>A) c.521C>A (p.Pro174His) c.647C>A (p.Pro216His) n.682C>A c.*150C>A (n.*150C>A) n.34C>A c.623C>A (p.Pro208His) n.848C>A n.687C>A n.592C>A c.503C>A (p.Pro168His) n.635C>A n.607C>A | |
| 1 | g.33013255G>A | CA339699124 | AK2 | n.1798C>T c.*635C>T (n.*635C>T) n.1785C>T c.*5528C>T (n.*5528C>T) n.1960C>T c.*452C>T (n.*452C>T) c.520C>T (p.Pro174Ser) c.646C>T (p.Pro216Ser) n.681C>T c.*149C>T (n.*149C>T) n.33C>T c.622C>T (p.Pro208Ser) n.847C>T n.686C>T n.591C>T c.502C>T (p.Pro168Ser) n.634C>T n.606C>T | |
| 1 | g.33013255G>C | CA339699126 | AK2 | n.1798C>G c.*635C>G (n.*635C>G) n.1785C>G c.*5528C>G (n.*5528C>G) n.1960C>G c.*452C>G (n.*452C>G) c.520C>G (p.Pro174Ala) c.646C>G (p.Pro216Ala) n.681C>G c.*149C>G (n.*149C>G) n.33C>G c.622C>G (p.Pro208Ala) n.847C>G n.686C>G n.591C>G c.502C>G (p.Pro168Ala) n.634C>G n.606C>G | |
| 1 | g.33013255G>T | CA339699128 | AK2 | n.1798C>A c.*635C>A (n.*635C>A) n.1785C>A c.*5528C>A (n.*5528C>A) n.1960C>A c.*452C>A (n.*452C>A) c.520C>A (p.Pro174Thr) c.646C>A (p.Pro216Thr) n.681C>A c.*149C>A (n.*149C>A) n.33C>A c.622C>A (p.Pro208Thr) n.847C>A n.686C>A n.591C>A c.502C>A (p.Pro168Thr) n.634C>A n.606C>A | |
| 1 | g.33013256G>A | CA417066484 | AK2 | n.1797C>T c.*634C>T (n.*634C>T) n.1784C>T c.*5527C>T (n.*5527C>T) n.1959C>T c.*451C>T (n.*451C>T) c.519C>T (p.Thr173=) c.645C>T (p.Thr215=) n.680C>T c.*148C>T (n.*148C>T) n.32C>T c.621C>T (p.Thr207=) n.846C>T n.685C>T n.590C>T c.501C>T (p.Thr167=) n.633C>T n.605C>T | gnomAD v4 |
| 1 | g.33013256G>C | CA417066485 | AK2 | n.1797C>G c.*634C>G (n.*634C>G) n.1784C>G c.*5527C>G (n.*5527C>G) n.1959C>G c.*451C>G (n.*451C>G) c.519C>G (p.Thr173=) c.645C>G (p.Thr215=) n.680C>G c.*148C>G (n.*148C>G) n.32C>G c.621C>G (p.Thr207=) n.846C>G n.685C>G n.590C>G c.501C>G (p.Thr167=) n.633C>G n.605C>G | |
| 1 | g.33013256G>T | CA417066486 | AK2 | n.1797C>A c.*634C>A (n.*634C>A) n.1784C>A c.*5527C>A (n.*5527C>A) n.1959C>A c.*451C>A (n.*451C>A) c.519C>A (p.Thr173=) c.645C>A (p.Thr215=) n.680C>A c.*148C>A (n.*148C>A) n.32C>A c.621C>A (p.Thr207=) n.846C>A n.685C>A n.590C>A c.501C>A (p.Thr167=) n.633C>A n.605C>A | gnomAD v4 COSMIC COSMIC |
| 1 | g.33013257G>A | CA339699133 | AK2 | n.1796C>T c.*633C>T (n.*633C>T) n.1783C>T c.*5526C>T (n.*5526C>T) n.1958C>T c.*450C>T (n.*450C>T) c.518C>T (p.Thr173Ile) c.644C>T (p.Thr215Ile) n.679C>T c.*147C>T (n.*147C>T) n.31C>T c.620C>T (p.Thr207Ile) n.845C>T n.684C>T n.589C>T c.500C>T (p.Thr167Ile) n.632C>T n.604C>T | |
| 1 | g.33013257G>C | CA339699136 | AK2 | n.1796C>G c.*633C>G (n.*633C>G) n.1783C>G c.*5526C>G (n.*5526C>G) n.1958C>G c.*450C>G (n.*450C>G) c.518C>G (p.Thr173Ser) c.644C>G (p.Thr215Ser) n.679C>G c.*147C>G (n.*147C>G) n.31C>G c.620C>G (p.Thr207Ser) n.845C>G n.684C>G n.589C>G c.500C>G (p.Thr167Ser) n.632C>G n.604C>G | |
| 1 | g.33013257G>T | CA339699134 | AK2 | n.1796C>A c.*633C>A (n.*633C>A) n.1783C>A c.*5526C>A (n.*5526C>A) n.1958C>A c.*450C>A (n.*450C>A) c.518C>A (p.Thr173Asn) c.644C>A (p.Thr215Asn) n.679C>A c.*147C>A (n.*147C>A) n.31C>A c.620C>A (p.Thr207Asn) n.845C>A n.684C>A n.589C>A c.500C>A (p.Thr167Asn) n.632C>A n.604C>A | gnomAD v4 |
| 1 | g.33013258T>A | CA339699137 | AK2 | n.1795A>T c.*632A>T (n.*632A>T) n.1782A>T c.*5525A>T (n.*5525A>T) n.1957A>T c.*449A>T (n.*449A>T) c.517A>T (p.Thr173Ser) c.643A>T (p.Thr215Ser) n.678A>T c.*146A>T (n.*146A>T) n.30A>T c.619A>T (p.Thr207Ser) n.844A>T n.683A>T n.588A>T c.499A>T (p.Thr167Ser) n.631A>T n.603A>T | |
| 1 | g.33013258T>C | CA339699139 | AK2 | n.1795A>G c.*632A>G (n.*632A>G) n.1782A>G c.*5525A>G (n.*5525A>G) n.1957A>G c.*449A>G (n.*449A>G) c.517A>G (p.Thr173Ala) c.643A>G (p.Thr215Ala) n.678A>G c.*146A>G (n.*146A>G) n.30A>G c.619A>G (p.Thr207Ala) n.844A>G n.683A>G n.588A>G c.499A>G (p.Thr167Ala) n.631A>G n.603A>G | |
| 1 | g.33013258T>G | CA339699140 | AK2 | n.1795A>C c.*632A>C (n.*632A>C) n.1782A>C c.*5525A>C (n.*5525A>C) n.1957A>C c.*449A>C (n.*449A>C) c.517A>C (p.Thr173Pro) c.643A>C (p.Thr215Pro) n.678A>C c.*146A>C (n.*146A>C) n.30A>C c.619A>C (p.Thr207Pro) n.844A>C n.683A>C n.588A>C c.499A>C (p.Thr167Pro) n.631A>C n.603A>C | |
| 1 | g.33013259C>A | CA339699143 | AK2 | n.1794G>T c.*631G>T (n.*631G>T) n.1781G>T c.*5524G>T (n.*5524G>T) n.1956G>T c.*448G>T (n.*448G>T) c.516G>T (p.Gln172His) c.642G>T (p.Gln214His) n.677G>T c.*145G>T (n.*145G>T) n.29G>T c.618G>T (p.Gln206His) n.843G>T n.682G>T n.587G>T c.498G>T (p.Gln166His) n.630G>T n.602G>T | |
| 1 | g.33013259C= | CA1142315331 | AK2 | n.1794G= c.*631G= (n.*631G=) n.1781G= c.*5524G= (n.*5524G=) n.1956G= c.*448G= (n.*448G=) c.516G= (p.Gln172=) c.642G= (p.Gln214=) n.677G= c.*145G= (n.*145G=) n.29G= c.618G= (p.Gln206=) n.843G= n.682G= n.587G= c.498G= (p.Gln166=) n.630G= n.602G= | |
| 1 | g.33013259C>G | CA339699145 | AK2 | n.1794G>C c.*631G>C (n.*631G>C) n.1781G>C c.*5524G>C (n.*5524G>C) n.1956G>C c.*448G>C (n.*448G>C) c.516G>C (p.Gln172His) c.642G>C (p.Gln214His) n.677G>C c.*145G>C (n.*145G>C) n.29G>C c.618G>C (p.Gln206His) n.843G>C n.682G>C n.587G>C c.498G>C (p.Gln166His) n.630G>C n.602G>C | |
| 1 | g.33013259C>T | CA747044 | AK2 | n.1794G>A c.*631G>A (n.*631G>A) n.1781G>A c.*5524G>A (n.*5524G>A) n.1956G>A c.*448G>A (n.*448G>A) c.516G>A (p.Gln172=) c.642G>A (p.Gln214=) n.677G>A c.*145G>A (n.*145G>A) n.29G>A c.618G>A (p.Gln206=) n.843G>A n.682G>A n.587G>A c.498G>A (p.Gln166=) n.630G>A n.602G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.33013260T>A | CA339699148 | AK2 | n.1793A>T c.*630A>T (n.*630A>T) n.1780A>T c.*5523A>T (n.*5523A>T) n.1955A>T c.*447A>T (n.*447A>T) c.515A>T (p.Gln172Leu) c.641A>T (p.Gln214Leu) n.676A>T c.*144A>T (n.*144A>T) n.28A>T c.617A>T (p.Gln206Leu) n.842A>T n.681A>T n.586A>T c.497A>T (p.Gln166Leu) n.629A>T n.601A>T | |
| 1 | g.33013260T>C | CA339699150 | AK2 | n.1793A>G c.*630A>G (n.*630A>G) n.1780A>G c.*5523A>G (n.*5523A>G) n.1955A>G c.*447A>G (n.*447A>G) c.515A>G (p.Gln172Arg) c.641A>G (p.Gln214Arg) n.676A>G c.*144A>G (n.*144A>G) n.28A>G c.617A>G (p.Gln206Arg) n.842A>G n.681A>G n.586A>G c.497A>G (p.Gln166Arg) n.629A>G n.601A>G | |
| 1 | g.33013260T>G | CA339699152 | AK2 | n.1793A>C c.*630A>C (n.*630A>C) n.1780A>C c.*5523A>C (n.*5523A>C) n.1955A>C c.*447A>C (n.*447A>C) c.515A>C (p.Gln172Pro) c.641A>C (p.Gln214Pro) n.676A>C c.*144A>C (n.*144A>C) n.28A>C c.617A>C (p.Gln206Pro) n.842A>C n.681A>C n.586A>C c.497A>C (p.Gln166Pro) n.629A>C n.601A>C | |
| 1 | g.33013261G>A | CA339699154 | AK2 | n.1792C>T c.*629C>T (n.*629C>T) n.1779C>T c.*5522C>T (n.*5522C>T) n.1954C>T c.*446C>T (n.*446C>T) c.514C>T (p.Gln172Ter) c.640C>T (p.Gln214Ter) n.675C>T c.*143C>T (n.*143C>T) n.27C>T c.616C>T (p.Gln206Ter) n.841C>T n.680C>T n.585C>T c.496C>T (p.Gln166Ter) n.628C>T n.600C>T | |
| 1 | g.33013261G>C | CA339699156 | AK2 | n.1792C>G c.*629C>G (n.*629C>G) n.1779C>G c.*5522C>G (n.*5522C>G) n.1954C>G c.*446C>G (n.*446C>G) c.514C>G (p.Gln172Glu) c.640C>G (p.Gln214Glu) n.675C>G c.*143C>G (n.*143C>G) n.27C>G c.616C>G (p.Gln206Glu) n.841C>G n.680C>G n.585C>G c.496C>G (p.Gln166Glu) n.628C>G n.600C>G | |
| 1 | g.33013261G>T | CA339699158 | AK2 | n.1792C>A c.*629C>A (n.*629C>A) n.1779C>A c.*5522C>A (n.*5522C>A) n.1954C>A c.*446C>A (n.*446C>A) c.514C>A (p.Gln172Lys) c.640C>A (p.Gln214Lys) n.675C>A c.*143C>A (n.*143C>A) n.27C>A c.616C>A (p.Gln206Lys) n.841C>A n.680C>A n.585C>A c.496C>A (p.Gln166Lys) n.628C>A n.600C>A | |
| 1 | g.33013262G>A | CA417066487 | AK2 | n.1791C>T c.*628C>T (n.*628C>T) n.1778C>T c.*5521C>T (n.*5521C>T) n.1953C>T c.*445C>T (n.*445C>T) c.513C>T (p.Ser171=) c.639C>T (p.Ser213=) n.674C>T c.*142C>T (n.*142C>T) n.26C>T c.615C>T (p.Ser205=) n.840C>T n.679C>T n.584C>T c.495C>T (p.Ser165=) n.627C>T n.599C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.33013262G>C | CA417066488 | AK2 | n.1791C>G c.*628C>G (n.*628C>G) n.1778C>G c.*5521C>G (n.*5521C>G) n.1953C>G c.*445C>G (n.*445C>G) c.513C>G (p.Ser171=) c.639C>G (p.Ser213=) n.674C>G c.*142C>G (n.*142C>G) n.26C>G c.615C>G (p.Ser205=) n.840C>G n.679C>G n.584C>G c.495C>G (p.Ser165=) n.627C>G n.599C>G | |
| 1 | g.33013262G= | CA1161300854 | AK2 | n.1791C= c.*628C= (n.*628C=) n.1778C= c.*5521C= (n.*5521C=) n.1953C= c.*445C= (n.*445C=) c.513C= (p.Ser171=) c.639C= (p.Ser213=) n.674C= c.*142C= (n.*142C=) n.26C= c.615C= (p.Ser205=) n.840C= n.679C= n.584C= c.495C= (p.Ser165=) n.627C= n.599C= | |
| 1 | g.33013262G>T | CA417066489 | AK2 | n.1791C>A c.*628C>A (n.*628C>A) n.1778C>A c.*5521C>A (n.*5521C>A) n.1953C>A c.*445C>A (n.*445C>A) c.513C>A (p.Ser171=) c.639C>A (p.Ser213=) n.674C>A c.*142C>A (n.*142C>A) n.26C>A c.615C>A (p.Ser205=) n.840C>A n.679C>A n.584C>A c.495C>A (p.Ser165=) n.627C>A n.599C>A | |
| 1 | g.33013263G>A | CA339699160 | AK2 | n.1790C>T c.*627C>T (n.*627C>T) n.1777C>T c.*5520C>T (n.*5520C>T) n.1952C>T c.*444C>T (n.*444C>T) c.512C>T (p.Ser171Phe) c.638C>T (p.Ser213Phe) n.673C>T c.*141C>T (n.*141C>T) n.25C>T c.614C>T (p.Ser205Phe) n.839C>T n.678C>T n.583C>T c.494C>T (p.Ser165Phe) n.626C>T n.598C>T | |
| 1 | g.33013263G>C | CA339699162 | AK2 | n.1790C>G c.*627C>G (n.*627C>G) n.1777C>G c.*5520C>G (n.*5520C>G) n.1952C>G c.*444C>G (n.*444C>G) c.512C>G (p.Ser171Cys) c.638C>G (p.Ser213Cys) n.673C>G c.*141C>G (n.*141C>G) n.25C>G c.614C>G (p.Ser205Cys) n.839C>G n.678C>G n.583C>G c.494C>G (p.Ser165Cys) n.626C>G n.598C>G | gnomAD v4 |
| 1 | g.33013263G= | CA1141667071 | AK2 | n.1790C= c.*627C= (n.*627C=) n.1777C= c.*5520C= (n.*5520C=) n.1952C= c.*444C= (n.*444C=) c.512C= (p.Ser171=) c.638C= (p.Ser213=) n.673C= c.*141C= (n.*141C=) n.25C= c.614C= (p.Ser205=) n.839C= n.678C= n.583C= c.494C= (p.Ser165=) n.626C= n.598C= | |
| 1 | g.33013263G>T | CA747045 | AK2 | n.1790C>A c.*627C>A (n.*627C>A) n.1777C>A c.*5520C>A (n.*5520C>A) n.1952C>A c.*444C>A (n.*444C>A) c.512C>A (p.Ser171Tyr) c.638C>A (p.Ser213Tyr) n.673C>A c.*141C>A (n.*141C>A) n.25C>A c.614C>A (p.Ser205Tyr) n.839C>A n.678C>A n.583C>A c.494C>A (p.Ser165Tyr) n.626C>A n.598C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.33013264A>C | CA339699166 | AK2 | n.1789T>G c.*626T>G (n.*626T>G) n.1776T>G c.*5519T>G (n.*5519T>G) n.1951T>G c.*443T>G (n.*443T>G) c.511T>G (p.Ser171Ala) c.637T>G (p.Ser213Ala) n.672T>G c.*140T>G (n.*140T>G) n.24T>G c.613T>G (p.Ser205Ala) n.838T>G n.677T>G n.582T>G c.493T>G (p.Ser165Ala) n.625T>G n.597T>G | |
| 1 | g.33013264A>G | CA339699164 | AK2 | n.1789T>C c.*626T>C (n.*626T>C) n.1776T>C c.*5519T>C (n.*5519T>C) n.1951T>C c.*443T>C (n.*443T>C) c.511T>C (p.Ser171Pro) c.637T>C (p.Ser213Pro) n.672T>C c.*140T>C (n.*140T>C) n.24T>C c.613T>C (p.Ser205Pro) n.838T>C n.677T>C n.582T>C c.493T>C (p.Ser165Pro) n.625T>C n.597T>C | |
| 1 | g.33013264A>T | CA339699168 | AK2 | n.1789T>A c.*626T>A (n.*626T>A) n.1776T>A c.*5519T>A (n.*5519T>A) n.1951T>A c.*443T>A (n.*443T>A) c.511T>A (p.Ser171Thr) c.637T>A (p.Ser213Thr) n.672T>A c.*140T>A (n.*140T>A) n.24T>A c.613T>A (p.Ser205Thr) n.838T>A n.677T>A n.582T>A c.493T>A (p.Ser165Thr) n.625T>A n.597T>A | |
| 1 | g.33013265T>A | CA417066492 | AK2 | n.1788A>T c.*625A>T (n.*625A>T) n.1775A>T c.*5518A>T (n.*5518A>T) n.1950A>T c.*442A>T (n.*442A>T) c.510A>T (p.Ala170=) c.636A>T (p.Ala212=) n.671A>T c.*139A>T (n.*139A>T) n.23A>T c.612A>T (p.Ala204=) n.837A>T n.676A>T n.581A>T c.492A>T (p.Ala164=) n.624A>T n.596A>T | |
| 1 | g.33013265T>C | CA417066490 | AK2 | n.1788A>G c.*625A>G (n.*625A>G) n.1775A>G c.*5518A>G (n.*5518A>G) n.1950A>G c.*442A>G (n.*442A>G) c.510A>G (p.Ala170=) c.636A>G (p.Ala212=) n.671A>G c.*139A>G (n.*139A>G) n.23A>G c.612A>G (p.Ala204=) n.837A>G n.676A>G n.581A>G c.492A>G (p.Ala164=) n.624A>G n.596A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.33013265T>G | CA417066491 | AK2 | n.1788A>C c.*625A>C (n.*625A>C) n.1775A>C c.*5518A>C (n.*5518A>C) n.1950A>C c.*442A>C (n.*442A>C) c.510A>C (p.Ala170=) c.636A>C (p.Ala212=) n.671A>C c.*139A>C (n.*139A>C) n.23A>C c.612A>C (p.Ala204=) n.837A>C n.676A>C n.581A>C c.492A>C (p.Ala164=) n.624A>C n.596A>C | |
| 1 | g.33013265T= | CA1161300855 | AK2 | n.1788A= c.*625A= (n.*625A=) n.1775A= c.*5518A= (n.*5518A=) n.1950A= c.*442A= (n.*442A=) c.510A= (p.Ala170=) c.636A= (p.Ala212=) n.671A= c.*139A= (n.*139A=) n.23A= c.612A= (p.Ala204=) n.837A= n.676A= n.581A= c.492A= (p.Ala164=) n.624A= n.596A= | |
| 1 | g.33013266G>A | CA339699170 | AK2 | n.1787C>T c.*624C>T (n.*624C>T) n.1774C>T c.*5517C>T (n.*5517C>T) n.1949C>T c.*441C>T (n.*441C>T) c.509C>T (p.Ala170Val) c.635C>T (p.Ala212Val) n.670C>T c.*138C>T (n.*138C>T) n.22C>T c.611C>T (p.Ala204Val) n.836C>T n.675C>T n.580C>T c.491C>T (p.Ala164Val) n.623C>T n.595C>T | |
| 1 | g.33013266G>C | CA339699171 | AK2 | n.1787C>G c.*624C>G (n.*624C>G) n.1774C>G c.*5517C>G (n.*5517C>G) n.1949C>G c.*441C>G (n.*441C>G) c.509C>G (p.Ala170Gly) c.635C>G (p.Ala212Gly) n.670C>G c.*138C>G (n.*138C>G) n.22C>G c.611C>G (p.Ala204Gly) n.836C>G n.675C>G n.580C>G c.491C>G (p.Ala164Gly) n.623C>G n.595C>G |