UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.56836604G>A | CA395992834 | NUP93 | c.1786G>A (p.Gly596Arg) c.1417G>A (p.Gly473Arg) | |
| 16 | g.56836604G>C | CA395992832 | NUP93 | c.1786G>C (p.Gly596Arg) c.1417G>C (p.Gly473Arg) | |
| 16 | g.56836604G>T | CA395992833 | NUP93 | c.1786G>T (p.Gly596Ter) c.1417G>T (p.Gly473Ter) | |
| 16 | g.56836605G>A | CA395992835 | NUP93 | c.1787G>A (p.Gly596Glu) c.1418G>A (p.Gly473Glu) | |
| 16 | g.56836605G>C | CA395992837 | NUP93 | c.1787G>C (p.Gly596Ala) c.1418G>C (p.Gly473Ala) | |
| 16 | g.56836605G= | CA2224333789 | NUP93 | c.1787G= (p.Gly596=) c.1418G= (p.Gly473=) | |
| 16 | g.56836605G>T | CA395992839 | NUP93 | c.1787G>T (p.Gly596Val) c.1418G>T (p.Gly473Val) | dbSNP |
| 16 | g.56836606A>C | CA495602388 | NUP93 | c.1788A>C (p.Gly596=) c.1419A>C (p.Gly473=) | |
| 16 | g.56836606A>G | CA495602390 | NUP93 | c.1788A>G (p.Gly596=) c.1419A>G (p.Gly473=) | |
| 16 | g.56836606A>T | CA495602392 | NUP93 | c.1788A>T (p.Gly596=) c.1419A>T (p.Gly473=) | |
| 16 | g.56836607G>A | CA395992841 | NUP93 | c.1789G>A (p.Val597Ile) c.1420G>A (p.Val474Ile) | ClinVar |
| 16 | g.56836607G>C | CA395992842 | NUP93 | c.1789G>C (p.Val597Leu) c.1420G>C (p.Val474Leu) | |
| 16 | g.56836607G>T | CA395992844 | NUP93 | c.1789G>T (p.Val597Phe) c.1420G>T (p.Val474Phe) | |
| 16 | g.56836608T>A | CA395992846 | NUP93 | c.1790T>A (p.Val597Asp) c.1421T>A (p.Val474Asp) | |
| 16 | g.56836608T>C | CA395992847 | NUP93 | c.1790T>C (p.Val597Ala) c.1421T>C (p.Val474Ala) | |
| 16 | g.56836608T>G | CA395992848 | NUP93 | c.1790T>G (p.Val597Gly) c.1421T>G (p.Val474Gly) | |
| 16 | g.56836609C>A | CA495602404 | NUP93 | c.1791C>A (p.Val597=) c.1422C>A (p.Val474=) | gnomAD v4 |
| 16 | g.56836609C>G | CA495602410 | NUP93 | c.1791C>G (p.Val597=) c.1422C>G (p.Val474=) | |
| 16 | g.56836609C>T | CA495602407 | NUP93 | c.1791C>T (p.Val597=) c.1422C>T (p.Val474=) | |
| 16 | g.56836610A= | CA2224333790 | NUP93 | c.1792A= (p.Ile598=) c.1423A= (p.Ile475=) | |
| 16 | g.56836610A>C | CA395992849 | NUP93 | c.1792A>C (p.Ile598Leu) c.1423A>C (p.Ile475Leu) | |
| 16 | g.56836610A>G | CA395992850 | NUP93 | c.1792A>G (p.Ile598Val) c.1423A>G (p.Ile475Val) | dbSNP gnomAD v4 |
| 16 | g.56836610A>T | CA395992852 | NUP93 | c.1792A>T (p.Ile598Leu) c.1423A>T (p.Ile475Leu) | |
| 16 | g.56836611T>A | CA395992856 | NUP93 | c.1793T>A (p.Ile598Lys) c.1424T>A (p.Ile475Lys) | |
| 16 | g.56836611T>C | CA395992858 | NUP93 | c.1793T>C (p.Ile598Thr) c.1424T>C (p.Ile475Thr) | gnomAD v4 |
| 16 | g.56836611T>G | CA395992855 | NUP93 | c.1793T>G (p.Ile598Arg) c.1424T>G (p.Ile475Arg) | gnomAD v4 |
| 16 | g.56836612A>C | CA495602421 | NUP93 | c.1794A>C (p.Ile598=) c.1425A>C (p.Ile475=) | |
| 16 | g.56836612A>G | CA395992859 | NUP93 | c.1794A>G (p.Ile598Met) c.1425A>G (p.Ile475Met) | |
| 16 | g.56836612A>T | CA495602424 | NUP93 | c.1794A>T (p.Ile598=) c.1425A>T (p.Ile475=) | |
| 16 | g.56836613G>A | CA395992861 | NUP93 | c.1795G>A (p.Asp599Asn) c.1426G>A (p.Asp476Asn) | |
| 16 | g.56836613G>C | CA395992868 | NUP93 | c.1795G>C (p.Asp599His) c.1426G>C (p.Asp476His) | |
| 16 | g.56836613G= | CA2224333791 | NUP93 | c.1795G= (p.Asp599=) c.1426G= (p.Asp476=) | |
| 16 | g.56836613G>T | CA395992869 | NUP93 | c.1795G>T (p.Asp599Tyr) c.1426G>T (p.Asp476Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56836614A= | CA2224333792 | NUP93 | c.1796A= (p.Asp599=) c.1427A= (p.Asp476=) | |
| 16 | g.56836614A>C | CA395992871 | NUP93 | c.1796A>C (p.Asp599Ala) c.1427A>C (p.Asp476Ala) | |
| 16 | g.56836614A>G | CA395992873 | NUP93 | c.1796A>G (p.Asp599Gly) c.1427A>G (p.Asp476Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.56836614A>T | CA395992874 | NUP93 | c.1796A>T (p.Asp599Val) c.1427A>T (p.Asp476Val) | |
| 16 | g.56836615T>A | CA395992875 | NUP93 | c.1797T>A (p.Asp599Glu) c.1428T>A (p.Asp476Glu) | |
| 16 | g.56836615T>C | CA495602438 | NUP93 | c.1797T>C (p.Asp599=) c.1428T>C (p.Asp476=) | |
| 16 | g.56836615T>G | CA395992876 | NUP93 | c.1797T>G (p.Asp599Glu) c.1428T>G (p.Asp476Glu) | |
| 16 | g.56836616A= | CA2224333793 | NUP93 | c.1798A= (p.Lys600=) c.1429A= (p.Lys477=) | |
| 16 | g.56836616A>C | CA395992878 | NUP93 | c.1798A>C (p.Lys600Gln) c.1429A>C (p.Lys477Gln) | |
| 16 | g.56836616A>G | CA395992880 | NUP93 | c.1798A>G (p.Lys600Glu) c.1429A>G (p.Lys477Glu) | dbSNP |
| 16 | g.56836616A>T | CA395992882 | NUP93 | c.1798A>T (p.Lys600Ter) c.1429A>T (p.Lys477Ter) | gnomAD v4 |
| 16 | g.56836617A>C | CA395992885 | NUP93 | c.1799A>C (p.Lys600Thr) c.1430A>C (p.Lys477Thr) | |
| 16 | g.56836617A>G | CA395992884 | NUP93 | c.1799A>G (p.Lys600Arg) c.1430A>G (p.Lys477Arg) | |
| 16 | g.56836617A>T | CA395992883 | NUP93 | c.1799A>T (p.Lys600Met) c.1430A>T (p.Lys477Met) | |
| 16 | g.56836618G>A | CA495602452 | NUP93 | c.1800G>A (p.Lys600=) c.1431G>A (p.Lys477=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.56836618G>C | CA395992886 | NUP93 | c.1800G>C (p.Lys600Asn) c.1431G>C (p.Lys477Asn) | |
| 16 | g.56836618G= | CA2224333794 | NUP93 | c.1800G= (p.Lys600=) c.1431G= (p.Lys477=) |