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.91234215_91234665delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA | CA2154863013 | GPR68 | c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG (p.Phe129=) c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG (p.Phe139=) | |
| 14 | g.91234218_91234667del | CA16040618 | GPR68 | c.386_835del (p.Phe129_Asn278del) c.416_865del (p.Phe139_Asn288del) | ClinVar dbSNP |
| 14 | g.91234634G>A | CA7308359 | GPR68 | c.417C>T (p.Val139=) c.447C>T (p.Val149=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91234634G>C | CA487828826 | GPR68 | c.417C>G (p.Val139=) c.447C>G (p.Val149=) | |
| 14 | g.91234634G= | CA2154863236 | GPR68 | c.417C= (p.Val139=) c.447C= (p.Val149=) | |
| 14 | g.91234634G>T | CA487828825 | GPR68 | c.417C>A (p.Val139=) c.447C>A (p.Val149=) | |
| 14 | g.91234635A>C | CA390606607 | GPR68 | c.416T>G (p.Val139Gly) c.446T>G (p.Val149Gly) | |
| 14 | g.91234635A>G | CA390606611 | GPR68 | c.416T>C (p.Val139Ala) c.446T>C (p.Val149Ala) | gnomAD v4 |
| 14 | g.91234635A>T | CA390606609 | GPR68 | c.416T>A (p.Val139Asp) c.446T>A (p.Val149Asp) | |
| 14 | g.91234636C>A | CA390606613 | GPR68 | c.415G>T (p.Val139Phe) c.445G>T (p.Val149Phe) | |
| 14 | g.91234636C>G | CA390606614 | GPR68 | c.415G>C (p.Val139Leu) c.445G>C (p.Val149Leu) | |
| 14 | g.91234636C>T | CA390606616 | GPR68 | c.415G>A (p.Val139Ile) c.445G>A (p.Val149Ile) | gnomAD v4 |
| 14 | g.91234637G>A | CA7308360 | GPR68 | c.414C>T (p.Ala138=) c.444C>T (p.Ala148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91234637G>C | CA487828833 | GPR68 | c.414C>G (p.Ala138=) c.444C>G (p.Ala148=) | |
| 14 | g.91234637G= | CA2154863237 | GPR68 | c.414C= (p.Ala138=) c.444C= (p.Ala148=) | |
| 14 | g.91234637G>T | CA487828834 | GPR68 | c.414C>A (p.Ala138=) c.444C>A (p.Ala148=) | |
| 14 | g.91234638G>A | CA390606622 | GPR68 | c.413C>T (p.Ala138Val) c.443C>T (p.Ala148Val) | |
| 14 | g.91234638G>C | CA390606618 | GPR68 | c.413C>G (p.Ala138Gly) c.443C>G (p.Ala148Gly) | |
| 14 | g.91234638G>T | CA390606620 | GPR68 | c.413C>A (p.Ala138Asp) c.443C>A (p.Ala148Asp) | |
| 14 | g.91234639C>A | CA390606624 | GPR68 | c.412G>T (p.Ala138Ser) c.442G>T (p.Ala148Ser) | |
| 14 | g.91234639C= | CA2154863238 | GPR68 | c.412G= (p.Ala138=) c.442G= (p.Ala148=) | |
| 14 | g.91234639C>G | CA390606625 | GPR68 | c.412G>C (p.Ala138Pro) c.442G>C (p.Ala148Pro) | |
| 14 | g.91234639C>T | CA390606626 | GPR68 | c.412G>A (p.Ala138Thr) c.442G>A (p.Ala148Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91234640C>A | CA487828839 | GPR68 | c.411G>T (p.Ala137=) c.441G>T (p.Ala147=) | |
| 14 | g.91234640C= | CA2154863239 | GPR68 | c.411G= (p.Ala137=) c.441G= (p.Ala147=) | |
| 14 | g.91234640C>G | CA487828841 | GPR68 | c.411G>C (p.Ala137=) c.441G>C (p.Ala147=) | gnomAD v4 |
| 14 | g.91234640C>T | CA7308361 | GPR68 | c.411G>A (p.Ala137=) c.441G>A (p.Ala147=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.91234641G>A | CA265534029 | GPR68 | c.410C>T (p.Ala137Val) c.440C>T (p.Ala147Val) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91234641G>C | CA390606629 | GPR68 | c.410C>G (p.Ala137Gly) c.440C>G (p.Ala147Gly) | |
| 14 | g.91234641G= | CA2154863240 | GPR68 | c.410C= (p.Ala137=) c.440C= (p.Ala147=) | |
| 14 | g.91234641G>T | CA390606631 | GPR68 | c.410C>A (p.Ala137Glu) c.440C>A (p.Ala147Glu) | gnomAD v4 |
| 14 | g.91234641_91234642delinsGC | CA2154863241 | GPR68 | c.409_410delinsGC (p.Ala137=) c.439_440delinsGC (p.Ala147=) | |
| 14 | g.91234642C>A | CA390606634 | GPR68 | c.409G>T (p.Ala137Ser) c.439G>T (p.Ala147Ser) | |
| 14 | g.91234642C= | CA2154863242 | GPR68 | c.409G= (p.Ala137=) c.439G= (p.Ala147=) | |
| 14 | g.91234642C>G | CA390606636 | GPR68 | c.409G>C (p.Ala137Pro) c.439G>C (p.Ala147Pro) | |
| 14 | g.91234642C>T | CA390606638 | GPR68 | c.409G>A (p.Ala137Thr) c.439G>A (p.Ala147Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91234643del | CA7308362 | GPR68 | c.409del (p.Ala137ArgfsTer15) c.439del (p.Ala147ArgfsTer15) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91234643C>A | CA390606640 | GPR68 | c.408G>T (p.Lys136Asn) c.438G>T (p.Lys146Asn) | |
| 14 | g.91234643C>G | CA390606642 | GPR68 | c.408G>C (p.Lys136Asn) c.438G>C (p.Lys146Asn) | |
| 14 | g.91234643C>T | CA487828848 | GPR68 | c.408G>A (p.Lys136=) c.438G>A (p.Lys146=) | gnomAD v4 |
| 14 | g.91234644T>A | CA390606644 | GPR68 | c.407A>T (p.Lys136Met) c.437A>T (p.Lys146Met) | |
| 14 | g.91234644T>C | CA390606648 | GPR68 | c.407A>G (p.Lys136Arg) c.437A>G (p.Lys146Arg) | dbSNP |
| 14 | g.91234644T>G | CA390606646 | GPR68 | c.407A>C (p.Lys136Thr) c.437A>C (p.Lys146Thr) | |
| 14 | g.91234644T= | CA2154863243 | GPR68 | c.407A= (p.Lys136=) c.437A= (p.Lys146=) | |
| 14 | g.91234645T>A | CA390606650 | GPR68 | c.406A>T (p.Lys136Ter) c.436A>T (p.Lys146Ter) | |
| 14 | g.91234645T>C | CA390606653 | GPR68 | c.406A>G (p.Lys136Glu) c.436A>G (p.Lys146Glu) | |
| 14 | g.91234645T>G | CA390606654 | GPR68 | c.406A>C (p.Lys136Gln) c.436A>C (p.Lys146Gln) | |
| 14 | g.91234646C>A | CA487828855 | GPR68 | c.405G>T (p.Leu135=) c.435G>T (p.Leu145=) | |
| 14 | g.91234646C>G | CA487828856 | GPR68 | c.405G>C (p.Leu135=) c.435G>C (p.Leu145=) | gnomAD v4 |
| 14 | g.91234646C>T | CA487828857 | GPR68 | c.405G>A (p.Leu135=) c.435G>A (p.Leu145=) |