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 |
|---|---|---|---|---|---|
| 14 | g.44934509G>A | CA486343284 | KLHL28 | c.949C>T (p.Leu317=) c.991C>T (p.Leu331=) | dbSNP gnomAD v4 |
| 14 | g.44934509G>C | CA389558071 | KLHL28 | c.949C>G (p.Leu317Val) c.991C>G (p.Leu331Val) | |
| 14 | g.44934509G= | CA2133508309 | KLHL28 | c.949C= (p.Leu317=) c.991C= (p.Leu331=) | |
| 14 | g.44934509G>T | CA389558072 | KLHL28 | c.949C>A (p.Leu317Ile) c.991C>A (p.Leu331Ile) | |
| 14 | g.44934510G>A | CA486343289 | KLHL28 | c.948C>T (p.Pro316=) c.990C>T (p.Pro330=) | |
| 14 | g.44934510G>C | CA486343291 | KLHL28 | c.948C>G (p.Pro316=) c.990C>G (p.Pro330=) | dbSNP |
| 14 | g.44934510G= | CA2133508310 | KLHL28 | c.948C= (p.Pro316=) c.990C= (p.Pro330=) | |
| 14 | g.44934510G>T | CA486343292 | KLHL28 | c.948C>A (p.Pro316=) c.990C>A (p.Pro330=) | |
| 14 | g.44934511G>A | CA389558074 | KLHL28 | c.947C>T (p.Pro316Leu) c.989C>T (p.Pro330Leu) | |
| 14 | g.44934511G>C | CA389558076 | KLHL28 | c.947C>G (p.Pro316Arg) c.989C>G (p.Pro330Arg) | |
| 14 | g.44934511G>T | CA389558078 | KLHL28 | c.947C>A (p.Pro316His) c.989C>A (p.Pro330His) | |
| 14 | g.44934512G>A | CA389558083 | KLHL28 | c.946C>T (p.Pro316Ser) c.988C>T (p.Pro330Ser) | |
| 14 | g.44934512G>C | CA389558079 | KLHL28 | c.946C>G (p.Pro316Ala) c.988C>G (p.Pro330Ala) | |
| 14 | g.44934512G>T | CA389558081 | KLHL28 | c.946C>A (p.Pro316Thr) c.988C>A (p.Pro330Thr) | |
| 14 | g.44934513T>A | CA486343302 | KLHL28 | c.945A>T (p.Ala315=) c.987A>T (p.Ala329=) | |
| 14 | g.44934513T>C | CA486343304 | KLHL28 | c.945A>G (p.Ala315=) c.987A>G (p.Ala329=) | |
| 14 | g.44934513T>G | CA486343305 | KLHL28 | c.945A>C (p.Ala315=) c.987A>C (p.Ala329=) | |
| 14 | g.44934514G>A | CA389558085 | KLHL28 | c.944C>T (p.Ala315Val) c.986C>T (p.Ala329Val) | |
| 14 | g.44934514G>C | CA389558088 | KLHL28 | c.944C>G (p.Ala315Gly) c.986C>G (p.Ala329Gly) | |
| 14 | g.44934514G>T | CA389558089 | KLHL28 | c.944C>A (p.Ala315Glu) c.986C>A (p.Ala329Glu) | |
| 14 | g.44934515C>A | CA259586736 | KLHL28 | c.943G>T (p.Ala315Ser) c.985G>T (p.Ala329Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.44934515C= | CA2133508311 | KLHL28 | c.943G= (p.Ala315=) c.985G= (p.Ala329=) | |
| 14 | g.44934515C>G | CA389558093 | KLHL28 | c.943G>C (p.Ala315Pro) c.985G>C (p.Ala329Pro) | |
| 14 | g.44934515C>T | CA389558094 | KLHL28 | c.943G>A (p.Ala315Thr) c.985G>A (p.Ala329Thr) | dbSNP |
| 14 | g.44934516C>A | CA389558097 | KLHL28 | c.942G>T (p.Leu314Phe) c.984G>T (p.Leu328Phe) | |
| 14 | g.44934516C>G | CA389558098 | KLHL28 | c.942G>C (p.Leu314Phe) c.984G>C (p.Leu328Phe) | |
| 14 | g.44934516C>T | CA486343312 | KLHL28 | c.942G>A (p.Leu314=) c.984G>A (p.Leu328=) | |
| 14 | g.44934517A>C | CA389558100 | KLHL28 | c.941T>G (p.Leu314Trp) c.983T>G (p.Leu328Trp) | |
| 14 | g.44934517A>G | CA389558102 | KLHL28 | c.941T>C (p.Leu314Ser) c.983T>C (p.Leu328Ser) | |
| 14 | g.44934517A>T | CA389558103 | KLHL28 | c.941T>A (p.Leu314Ter) c.983T>A (p.Leu328Ter) | |
| 14 | g.44934518A>C | CA389558105 | KLHL28 | c.940T>G (p.Leu314Val) c.982T>G (p.Leu328Val) | |
| 14 | g.44934518A>G | CA486343319 | KLHL28 | c.940T>C (p.Leu314=) c.982T>C (p.Leu328=) | |
| 14 | g.44934518A>T | CA389558107 | KLHL28 | c.940T>A (p.Leu314Met) c.982T>A (p.Leu328Met) | |
| 14 | g.44934519A>C | CA486343323 | KLHL28 | c.939T>G (p.Gly313=) c.981T>G (p.Gly327=) | |
| 14 | g.44934519A>G | CA486343324 | KLHL28 | c.939T>C (p.Gly313=) c.981T>C (p.Gly327=) | |
| 14 | g.44934519A>T | CA486343325 | KLHL28 | c.939T>A (p.Gly313=) c.981T>A (p.Gly327=) | |
| 14 | g.44934520C>A | CA389558113 | KLHL28 | c.938G>T (p.Gly313Val) c.980G>T (p.Gly327Val) | |
| 14 | g.44934520C>G | CA389558111 | KLHL28 | c.938G>C (p.Gly313Ala) c.980G>C (p.Gly327Ala) | gnomAD v4 |
| 14 | g.44934520C>T | CA389558109 | KLHL28 | c.938G>A (p.Gly313Asp) c.980G>A (p.Gly327Asp) | |
| 14 | g.44934521C>A | CA389558115 | KLHL28 | c.937G>T (p.Gly313Cys) c.979G>T (p.Gly327Cys) | |
| 14 | g.44934521C>G | CA389558117 | KLHL28 | c.937G>C (p.Gly313Arg) c.979G>C (p.Gly327Arg) | |
| 14 | g.44934521C>T | CA389558119 | KLHL28 | c.937G>A (p.Gly313Ser) c.979G>A (p.Gly327Ser) | |
| 14 | g.44934522A>C | CA389558121 | KLHL28 | c.936T>G (p.Ile312Met) c.978T>G (p.Ile326Met) | |
| 14 | g.44934522A>G | CA486343333 | KLHL28 | c.936T>C (p.Ile312=) c.978T>C (p.Ile326=) | |
| 14 | g.44934522A>T | CA486343334 | KLHL28 | c.936T>A (p.Ile312=) c.978T>A (p.Ile326=) | gnomAD v4 |
| 14 | g.44934523A= | CA2133508312 | KLHL28 | c.935T= (p.Ile312=) c.977T= (p.Ile326=) | |
| 14 | g.44934523A>C | CA389558123 | KLHL28 | c.935T>G (p.Ile312Ser) c.977T>G (p.Ile326Ser) | |
| 14 | g.44934523A>G | CA389558125 | KLHL28 | c.935T>C (p.Ile312Thr) c.977T>C (p.Ile326Thr) | dbSNP gnomAD v2 |
| 14 | g.44934523A>T | CA389558126 | KLHL28 | c.935T>A (p.Ile312Asn) c.977T>A (p.Ile326Asn) | |
| 14 | g.44934524T>A | CA389558129 | KLHL28 | c.934A>T (p.Ile312Phe) c.976A>T (p.Ile326Phe) |