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 |
|---|---|---|---|---|---|
| 20 | g.46016338C>A | CA510650748 | MMP9,SLC12A5-AS1 | c.2094C>A (p.Thr698=) n.669-1550G>T | |
| 20 | g.46016338C>G | CA510650749 | MMP9,SLC12A5-AS1 | c.2094C>G (p.Thr698=) n.669-1550G>C | |
| 20 | g.46016338C>T | CA510650750 | MMP9,SLC12A5-AS1 | c.2094C>T (p.Thr698=) n.669-1550G>A | |
| 20 | g.46016339T>A | CA409228139 | MMP9,SLC12A5-AS1 | c.2095T>A (p.Tyr699Asn) n.669-1551A>T | |
| 20 | g.46016339T>C | CA409228142 | MMP9,SLC12A5-AS1 | c.2095T>C (p.Tyr699His) n.669-1551A>G | gnomAD v4 |
| 20 | g.46016339T>G | CA409228145 | MMP9,SLC12A5-AS1 | c.2095T>G (p.Tyr699Asp) n.669-1551A>C | |
| 20 | g.46016339_46016342del | CA2741670585 | MMP9,SLC12A5-AS1 | c.2095_2098del (p.Tyr699ThrfsTer?) n.669-1554_669-1551del | |
| 20 | g.46016340A>C | CA409228154 | MMP9,SLC12A5-AS1 | c.2096A>C (p.Tyr699Ser) n.669-1552T>G | |
| 20 | g.46016340A>G | CA409228158 | MMP9,SLC12A5-AS1 | c.2096A>G (p.Tyr699Cys) n.669-1552T>C | dbSNP gnomAD v3 |
| 20 | g.46016340A>T | CA409228151 | MMP9,SLC12A5-AS1 | c.2096A>T (p.Tyr699Phe) n.669-1552T>A | |
| 20 | g.46016341T>A | CA409228161 | MMP9,SLC12A5-AS1 | c.2097T>A (p.Tyr699Ter) n.669-1553A>T | |
| 20 | g.46016341T>C | CA510650759 | MMP9,SLC12A5-AS1 | c.2097T>C (p.Tyr699=) n.669-1553A>G | |
| 20 | g.46016341T>G | CA409228164 | MMP9,SLC12A5-AS1 | c.2097T>G (p.Tyr699Ter) n.669-1553A>C | |
| 20 | g.46016342G>A | CA409228168 | MMP9,SLC12A5-AS1 | c.2098G>A (p.Asp700Asn) n.669-1554C>T | |
| 20 | g.46016342G>C | CA409228171 | MMP9,SLC12A5-AS1 | c.2098G>C (p.Asp700His) n.669-1554C>G | |
| 20 | g.46016342G>T | CA409228179 | MMP9,SLC12A5-AS1 | c.2098G>T (p.Asp700Tyr) n.669-1554C>A | |
| 20 | g.46016343A>C | CA409228182 | MMP9,SLC12A5-AS1 | c.2099A>C (p.Asp700Ala) n.669-1555T>G | |
| 20 | g.46016343A>G | CA409228193 | MMP9,SLC12A5-AS1 | c.2099A>G (p.Asp700Gly) n.669-1555T>C | |
| 20 | g.46016343A>T | CA409228198 | MMP9,SLC12A5-AS1 | c.2099A>T (p.Asp700Val) n.669-1555T>A | |
| 20 | g.46016344C>A | CA409228201 | MMP9,SLC12A5-AS1 | c.2100C>A (p.Asp700Glu) n.669-1556G>T | |
| 20 | g.46016344C>G | CA409228202 | MMP9,SLC12A5-AS1 | c.2100C>G (p.Asp700Glu) n.669-1556G>C | |
| 20 | g.46016344C>T | CA510650767 | MMP9,SLC12A5-AS1 | c.2100C>T (p.Asp700=) n.669-1556G>A | gnomAD v4 |
| 20 | g.46016345A>C | CA409228203 | MMP9,SLC12A5-AS1 | c.2101A>C (p.Ile701Leu) n.669-1557T>G | |
| 20 | g.46016345A>G | CA409228204 | MMP9,SLC12A5-AS1 | c.2101A>G (p.Ile701Val) n.669-1557T>C | |
| 20 | g.46016345A>T | CA409228206 | MMP9,SLC12A5-AS1 | c.2101A>T (p.Ile701Phe) n.669-1557T>A | |
| 20 | g.46016346T>A | CA409228220 | MMP9,SLC12A5-AS1 | c.2102T>A (p.Ile701Asn) n.669-1558A>T | |
| 20 | g.46016346T>C | CA409228215 | MMP9,SLC12A5-AS1 | c.2102T>C (p.Ile701Thr) n.669-1558A>G | |
| 20 | g.46016346T>G | CA409228210 | MMP9,SLC12A5-AS1 | c.2102T>G (p.Ile701Ser) n.669-1558A>C | |
| 20 | g.46016347C>A | CA510650773 | MMP9,SLC12A5-AS1 | c.2103C>A (p.Ile701=) n.669-1559G>T | |
| 20 | g.46016347C>G | CA409228263 | MMP9,SLC12A5-AS1 | c.2103C>G (p.Ile701Met) n.669-1559G>C | |
| 20 | g.46016347C>T | CA510650776 | MMP9,SLC12A5-AS1 | c.2103C>T (p.Ile701=) n.669-1559G>A | |
| 20 | g.46016348C>A | CA409228266 | MMP9,SLC12A5-AS1 | c.2104C>A (p.Leu702Met) n.669-1560G>T | |
| 20 | g.46016348C= | CA2366481091 | MMP9,SLC12A5-AS1 | c.2104C= (p.Leu702=) n.669-1560G= | |
| 20 | g.46016348C>G | CA409228270 | MMP9,SLC12A5-AS1 | c.2104C>G (p.Leu702Val) n.669-1560G>C | |
| 20 | g.46016348C>T | CA510650779 | MMP9,SLC12A5-AS1 | c.2104C>T (p.Leu702=) n.669-1560G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46016348_46016349del | CA2741670586 | MMP9,SLC12A5-AS1 | c.2104_2105del (p.Leu702AlafsTer4) n.669-1561_669-1560del | |
| 20 | g.46016349T>A | CA409228280 | MMP9,SLC12A5-AS1 | c.2105T>A (p.Leu702Gln) n.669-1561A>T | |
| 20 | g.46016349T>C | CA409228283 | MMP9,SLC12A5-AS1 | c.2105T>C (p.Leu702Pro) n.669-1561A>G | |
| 20 | g.46016349T>G | CA409228292 | MMP9,SLC12A5-AS1 | c.2105T>G (p.Leu702Arg) n.669-1561A>C | |
| 20 | g.46016350G>A | CA510650780 | MMP9,SLC12A5-AS1 | c.2106G>A (p.Leu702=) n.669-1562C>T | |
| 20 | g.46016350G>C | CA510650782 | MMP9,SLC12A5-AS1 | c.2106G>C (p.Leu702=) n.669-1562C>G | |
| 20 | g.46016350G>T | CA510650783 | MMP9,SLC12A5-AS1 | c.2106G>T (p.Leu702=) n.669-1562C>A | |
| 20 | g.46016351del | CA2741670587 | MMP9,SLC12A5-AS1 | c.2107del (p.Gln703SerfsTer?) n.669-1563del | |
| 20 | g.46016351C>A | CA9886901 | MMP9,SLC12A5-AS1 | c.2107C>A (p.Gln703Lys) n.669-1563G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46016351C= | CA2366481092 | MMP9,SLC12A5-AS1 | c.2107C= (p.Gln703=) n.669-1563G= | |
| 20 | g.46016351C>G | CA409228302 | MMP9,SLC12A5-AS1 | c.2107C>G (p.Gln703Glu) n.669-1563G>C | |
| 20 | g.46016351C>T | CA409228303 | MMP9,SLC12A5-AS1 | c.2107C>T (p.Gln703Ter) n.669-1563G>A | |
| 20 | g.46016352A>C | CA409228304 | MMP9,SLC12A5-AS1 | c.2108A>C (p.Gln703Pro) n.669-1564T>G | |
| 20 | g.46016352A>G | CA409228306 | MMP9,SLC12A5-AS1 | c.2108A>G (p.Gln703Arg) n.669-1564T>C | |
| 20 | g.46016352A>T | CA409228310 | MMP9,SLC12A5-AS1 | c.2108A>T (p.Gln703Leu) n.669-1564T>A |