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.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=) | |
| 14 | g.91234647A= | CA2154863244 | GPR68 | c.404T= (p.Leu135=) c.434T= (p.Leu145=) | |
| 14 | g.91234647A>C | CA390606657 | GPR68 | c.404T>G (p.Leu135Arg) c.434T>G (p.Leu145Arg) | |
| 14 | g.91234647A>G | CA7308363 | GPR68 | c.404T>C (p.Leu135Pro) c.434T>C (p.Leu145Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.91234647A>T | CA390606659 | GPR68 | c.404T>A (p.Leu135Gln) c.434T>A (p.Leu145Gln) | gnomAD v4 |
| 14 | g.91234648G>A | CA487828860 | GPR68 | c.403C>T (p.Leu135=) c.433C>T (p.Leu145=) | gnomAD v4 |
| 14 | g.91234648G>C | CA390606663 | GPR68 | c.403C>G (p.Leu135Val) c.433C>G (p.Leu145Val) | |
| 14 | g.91234648G>T | CA390606661 | GPR68 | c.403C>A (p.Leu135Met) c.433C>A (p.Leu145Met) | |
| 14 | g.91234649G>A | CA487828862 | GPR68 | c.402C>T (p.Thr134=) c.432C>T (p.Thr144=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.91234649G>C | CA487828866 | GPR68 | c.402C>G (p.Thr134=) c.432C>G (p.Thr144=) | gnomAD v4 |
| 14 | g.91234649G= | CA2154863245 | GPR68 | c.402C= (p.Thr134=) c.432C= (p.Thr144=) | |
| 14 | g.91234649G>T | CA487828864 | GPR68 | c.402C>A (p.Thr134=) c.432C>A (p.Thr144=) | gnomAD v4 |
| 14 | g.91234650G>A | CA390606665 | GPR68 | c.401C>T (p.Thr134Ile) c.431C>T (p.Thr144Ile) | |
| 14 | g.91234650G>C | CA390606668 | GPR68 | c.401C>G (p.Thr134Ser) c.431C>G (p.Thr144Ser) | |
| 14 | g.91234650G>T | CA390606669 | GPR68 | c.401C>A (p.Thr134Asn) c.431C>A (p.Thr144Asn) | |
| 14 | g.91234651T>A | CA390606673 | GPR68 | c.400A>T (p.Thr134Ser) c.430A>T (p.Thr144Ser) | |
| 14 | g.91234651T>C | CA390606674 | GPR68 | c.400A>G (p.Thr134Ala) c.430A>G (p.Thr144Ala) | |
| 14 | g.91234651T>G | CA390606676 | GPR68 | c.400A>C (p.Thr134Pro) c.430A>C (p.Thr144Pro) | |
| 14 | g.91234652C>A | CA487828868 | GPR68 | c.399G>T (p.Arg133=) c.429G>T (p.Arg143=) | |
| 14 | g.91234652C>G | CA487828869 | GPR68 | c.399G>C (p.Arg133=) c.429G>C (p.Arg143=) | |
| 14 | g.91234652C>T | CA487828870 | GPR68 | c.399G>A (p.Arg133=) c.429G>A (p.Arg143=) | |
| 14 | g.91234653C>A | CA390606679 | GPR68 | c.398G>T (p.Arg133Leu) c.428G>T (p.Arg143Leu) |