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 |
|---|---|---|---|---|---|
| 8 | g.60741451A>C | CA371295073 | CHD7 | n.532A>C c.19A>C (p.Met7Leu) | |
| 8 | g.60741451A>G | CA371295076 | CHD7 | n.532A>G c.19A>G (p.Met7Val) | |
| 8 | g.60741451A>T | CA371295074 | CHD7 | n.532A>T c.19A>T (p.Met7Leu) | |
| 8 | g.60741452T>A | CA371295077 | CHD7 | n.533T>A c.20T>A (p.Met7Lys) | |
| 8 | g.60741452T>C | CA371295078 | CHD7 | n.533T>C c.20T>C (p.Met7Thr) | dbSNP |
| 8 | g.60741452T>G | CA371295079 | CHD7 | n.533T>G c.20T>G (p.Met7Arg) | |
| 8 | g.60741452T= | CA1788094283 | CHD7 | n.533T= c.20T= (p.Met7=) | |
| 8 | g.60741453G>A | CA371295080 | CHD7 | n.534G>A c.21G>A (p.Met7Ile) | dbSNP gnomAD v4 |
| 8 | g.60741453G>C | CA371295081 | CHD7 | n.534G>C c.21G>C (p.Met7Ile) | |
| 8 | g.60741453G= | CA1788094285 | CHD7 | n.534G= c.21G= (p.Met7=) | |
| 8 | g.60741453G>T | CA371295082 | CHD7 | n.534G>T c.21G>T (p.Met7Ile) | |
| 8 | g.60741454A>C | CA371295084 | CHD7 | n.535A>C c.22A>C (p.Ser8Arg) | |
| 8 | g.60741454A>G | CA371295086 | CHD7 | n.535A>G c.22A>G (p.Ser8Gly) | gnomAD v4 |
| 8 | g.60741454A>T | CA371295087 | CHD7 | n.535A>T c.22A>T (p.Ser8Cys) | ClinVar |
| 8 | g.60741455G>A | CA371295089 | CHD7 | n.536G>A c.23G>A (p.Ser8Asn) | dbSNP |
| 8 | g.60741455G>C | CA371295092 | CHD7 | n.536G>C c.23G>C (p.Ser8Thr) | gnomAD v4 |
| 8 | g.60741455G= | CA1788094288 | CHD7 | n.536G= c.23G= (p.Ser8=) | |
| 8 | g.60741455G>T | CA371295093 | CHD7 | n.536G>T c.23G>T (p.Ser8Ile) | |
| 8 | g.60741456T>A | CA371295095 | CHD7 | n.537T>A c.24T>A (p.Ser8Arg) | |
| 8 | g.60741456T>C | CA460837440 | CHD7 | n.537T>C c.24T>C (p.Ser8=) | |
| 8 | g.60741456T>G | CA371295094 | CHD7 | n.537T>G c.24T>G (p.Ser8Arg) | |
| 8 | g.60741457C>A | CA371295098 | CHD7 | n.538C>A c.25C>A (p.Leu9Ile) | |
| 8 | g.60741457C>G | CA371295102 | CHD7 | n.538C>G c.25C>G (p.Leu9Val) | gnomAD v4 |
| 8 | g.60741457C>T | CA371295104 | CHD7 | n.538C>T c.25C>T (p.Leu9Phe) | |
| 8 | g.60741457_60741459delinsCTT | CA1788094293 | CHD7 | n.538_540delinsCTT c.25_27delinsCTT (p.Leu9=) | |
| 8 | g.60741458T>A | CA371295106 | CHD7 | n.539T>A c.26T>A (p.Leu9His) | |
| 8 | g.60741458T>C | CA371295107 | CHD7 | n.539T>C c.26T>C (p.Leu9Pro) | |
| 8 | g.60741458T>G | CA371295109 | CHD7 | n.539T>G c.26T>G (p.Leu9Arg) | |
| 8 | g.60741462del | CA2687395189 | CHD7 | n.543del c.30del (p.Phe10LeufsTer25) c.30del (p.Phe10LeufsTer?) | gnomAD v4 |
| 8 | g.60741461_60741462del | CA915945713 | CHD7 | n.542_543del c.29_30del (p.Phe10TrpfsTer9) | ClinVar dbSNP |
| 8 | g.60741459T>A | CA460837450 | CHD7 | n.540T>A c.27T>A (p.Leu9=) | |
| 8 | g.60741459T>C | CA460837452 | CHD7 | n.540T>C c.27T>C (p.Leu9=) | |
| 8 | g.60741459T>G | CA460837454 | CHD7 | n.540T>G c.27T>G (p.Leu9=) | ClinVar |
| 8 | g.60741460T>A | CA371295111 | CHD7 | n.541T>A c.28T>A (p.Phe10Ile) | |
| 8 | g.60741460T>C | CA371295118 | CHD7 | n.541T>C c.28T>C (p.Phe10Leu) | |
| 8 | g.60741460T>G | CA371295120 | CHD7 | n.541T>G c.28T>G (p.Phe10Val) | |
| 8 | g.60741461T>A | CA371295122 | CHD7 | n.542T>A c.29T>A (p.Phe10Tyr) | gnomAD v4 |
| 8 | g.60741461T>C | CA371295123 | CHD7 | n.542T>C c.29T>C (p.Phe10Ser) | |
| 8 | g.60741461T>G | CA371295124 | CHD7 | n.542T>G c.29T>G (p.Phe10Cys) | |
| 8 | g.60741462T>A | CA371295126 | CHD7 | n.543T>A c.30T>A (p.Phe10Leu) | |
| 8 | g.60741462T>C | CA460837462 | CHD7 | n.543T>C c.30T>C (p.Phe10=) | |
| 8 | g.60741462T>G | CA371295125 | CHD7 | n.543T>G c.30T>G (p.Phe10Leu) | |
| 8 | g.60741463G>A | CA371295127 | CHD7 | n.544G>A c.31G>A (p.Gly11Ser) | |
| 8 | g.60741463G>C | CA371295129 | CHD7 | n.544G>C c.31G>C (p.Gly11Arg) | |
| 8 | g.60741463G>T | CA371295130 | CHD7 | n.544G>T c.31G>T (p.Gly11Cys) | |
| 8 | g.60741464G>A | CA371295131 | CHD7 | n.545G>A c.32G>A (p.Gly11Asp) | |
| 8 | g.60741464G>C | CA371295133 | CHD7 | n.545G>C c.32G>C (p.Gly11Ala) | |
| 8 | g.60741464G>T | CA371295134 | CHD7 | n.545G>T c.32G>T (p.Gly11Val) | |
| 8 | g.60741465C>A | CA460837468 | CHD7 | n.546C>A c.33C>A (p.Gly11=) | dbSNP |
| 8 | g.60741465C= | CA1788094303 | CHD7 | n.546C= c.33C= (p.Gly11=) |