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 |
|---|---|---|---|---|---|
| 1 | g.7984879_7984884del | CA2643056870 | PARK7 | c.410-15_410-10del (n.410-15_410-10del) c.350-15_350-10del (n.350-15_350-10del) c.308_313del (p.Cys103_Phe104del) | dbSNP gnomAD v4 |
| 1 | g.7984881T>A | CA338166959 | PARK7 | c.410-13T>A (n.410-13T>A) c.350-13T>A (n.350-13T>A) c.310T>A (p.Phe104Ile) | |
| 1 | g.7984881T>C | CA338166960 | PARK7 | c.410-13T>C (n.410-13T>C) c.350-13T>C (n.350-13T>C) c.310T>C (p.Phe104Leu) | |
| 1 | g.7984881T>G | CA338166961 | PARK7 | c.410-13T>G (n.410-13T>G) c.350-13T>G (n.350-13T>G) c.310T>G (p.Phe104Val) | |
| 1 | g.7984882T>A | CA338166964 | PARK7 | c.410-12T>A (n.410-12T>A) c.350-12T>A (n.350-12T>A) c.311T>A (p.Phe104Tyr) | |
| 1 | g.7984882T>C | CA338166963 | PARK7 | c.410-12T>C (n.410-12T>C) c.350-12T>C (n.350-12T>C) c.311T>C (p.Phe104Ser) | |
| 1 | g.7984882T>G | CA338166962 | PARK7 | c.410-12T>G (n.410-12T>G) c.350-12T>G (n.350-12T>G) c.311T>G (p.Phe104Cys) | dbSNP |
| 1 | g.7984882T= | CA1152147337 | PARK7 | c.410-12T= (n.410-12T=) c.350-12T= (n.350-12T=) c.311T= (p.Phe104=) | |
| 1 | g.7984883C>A | CA338166966 | PARK7 | c.410-11C>A (n.410-11C>A) c.350-11C>A (n.350-11C>A) c.312C>A (p.Phe104Leu) | |
| 1 | g.7984883C>G | CA338166965 | PARK7 | c.410-11C>G (n.410-11C>G) c.350-11C>G (n.350-11C>G) c.312C>G (p.Phe104Leu) | |
| 1 | g.7984884T>A | CA338166967 | PARK7 | c.410-10T>A (n.410-10T>A) c.350-10T>A (n.350-10T>A) c.313T>A (p.Tyr105Asn) | |
| 1 | g.7984884T>C | CA17286810 | PARK7 | c.410-10T>C (n.410-10T>C) c.350-10T>C (n.350-10T>C) c.313T>C (p.Tyr105His) | dbSNP gnomAD v4 |
| 1 | g.7984884T>G | CA338166968 | PARK7 | c.410-10T>G (n.410-10T>G) c.350-10T>G (n.350-10T>G) c.313T>G (p.Tyr105Asp) | |
| 1 | g.7984884T= | CA1152147340 | PARK7 | c.410-10T= (n.410-10T=) c.350-10T= (n.350-10T=) c.313T= (p.Tyr105=) | |
| 1 | g.7984885A= | CA1141960700 | PARK7 | c.410-9A= (n.410-9A=) c.350-9A= (n.350-9A=) c.314A= (p.Tyr105=) | |
| 1 | g.7984885A>C | CA338166969 | PARK7 | c.410-9A>C (n.410-9A>C) c.350-9A>C (n.350-9A>C) c.314A>C (p.Tyr105Ser) | |
| 1 | g.7984885A>G | CA569617 | PARK7 | c.410-9A>G (n.410-9A>G) c.350-9A>G (n.350-9A>G) c.314A>G (p.Tyr105Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.7984885A>T | CA338166970 | PARK7 | c.410-9A>T (n.410-9A>T) c.350-9A>T (n.350-9A>T) c.314A>T (p.Tyr105Phe) | |
| 1 | g.7984886C>A | CA338166971 | PARK7 | c.410-8C>A (n.410-8C>A) c.350-8C>A (n.350-8C>A) c.315C>A (p.Tyr105Ter) | |
| 1 | g.7984886C>G | CA338166972 | PARK7 | c.410-8C>G (n.410-8C>G) c.350-8C>G (n.350-8C>G) c.315C>G (p.Tyr105Ter) | |
| 1 | g.7984886C>T | CA2643056871 | PARK7 | c.410-8C>T (n.410-8C>T) c.350-8C>T (n.350-8C>T) c.315C>T (p.Tyr105=) | gnomAD v4 |
| 1 | g.7984887T>A | CA338166973 | PARK7 | c.410-7T>A (n.410-7T>A) c.350-7T>A (n.350-7T>A) c.316T>A (p.Phe106Ile) | |
| 1 | g.7984887T>C | CA338166974 | PARK7 | c.410-7T>C (n.410-7T>C) c.350-7T>C (n.350-7T>C) c.316T>C (p.Phe106Leu) | |
| 1 | g.7984887T>G | CA338166975 | PARK7 | c.410-7T>G (n.410-7T>G) c.350-7T>G (n.350-7T>G) c.316T>G (p.Phe106Val) | |
| 1 | g.7984888T>A | CA338166977 | PARK7 | c.410-6T>A (n.410-6T>A) c.350-6T>A (n.350-6T>A) c.317T>A (p.Phe106Tyr) | |
| 1 | g.7984888T>C | CA338166978 | PARK7 | c.410-6T>C (n.410-6T>C) c.350-6T>C (n.350-6T>C) c.317T>C (p.Phe106Ser) | |
| 1 | g.7984888T>G | CA338166976 | PARK7 | c.410-6T>G (n.410-6T>G) c.350-6T>G (n.350-6T>G) c.317T>G (p.Phe106Cys) | |
| 1 | g.7984889T>A | CA338166979 | PARK7 | c.410-5T>A (n.410-5T>A) c.350-5T>A (n.350-5T>A) c.318T>A (p.Phe106Leu) | |
| 1 | g.7984889T>G | CA338166980 | PARK7 | c.410-5T>G (n.410-5T>G) c.350-5T>G (n.350-5T>G) c.318T>G (p.Phe106Leu) | |
| 1 | g.7984890G>A | CA338166981 | PARK7 | c.410-4G>A (n.410-4G>A) c.350-4G>A (n.350-4G>A) c.319G>A (p.Ala107Thr) | |
| 1 | g.7984890G>C | CA338166982 | PARK7 | c.410-4G>C (n.410-4G>C) c.350-4G>C (n.350-4G>C) c.319G>C (p.Ala107Pro) | |
| 1 | g.7984890G= | CA1152147351 | PARK7 | c.410-4G= (n.410-4G=) c.350-4G= (n.350-4G=) c.319G= (p.Ala107=) | |
| 1 | g.7984890G>T | CA338166983 | PARK7 | c.410-4G>T (n.410-4G>T) c.350-4G>T (n.350-4G>T) c.319G>T (p.Ala107Ser) | dbSNP |
| 1 | g.7984891C>A | CA338166986 | PARK7 | c.410-3C>A (n.410-3C>A) c.350-3C>A (n.350-3C>A) c.320C>A (p.Ala107Glu) | |
| 1 | g.7984891C>G | CA338166984 | PARK7 | c.410-3C>G (n.410-3C>G) c.350-3C>G (n.350-3C>G) c.320C>G (p.Ala107Gly) | |
| 1 | g.7984891C>T | CA338166985 | PARK7 | c.410-3C>T (n.410-3C>T) c.350-3C>T (n.350-3C>T) c.320C>T (p.Ala107Val) | |
| 1 | g.7984892A>C | CA338166987 | PARK7 | c.410-2A>C (n.410-2A>C) c.350-2A>C (n.350-2A>C) c.321A>C (p.Ala107=) | |
| 1 | g.7984892A>G | CA338166988 | PARK7 | c.410-2A>G (n.410-2A>G) c.350-2A>G (n.350-2A>G) c.321A>G (p.Ala107=) | |
| 1 | g.7984892A>T | CA338166989 | PARK7 | c.410-2A>T (n.410-2A>T) c.350-2A>T (n.350-2A>T) c.321A>T (p.Ala107=) | |
| 1 | g.7984892_7984893delinsAG | CA1152147354 | PARK7 | c.410-2_410-1delinsAG (n.410-2_410-1delinsAG) c.350-2_350-1delinsAG (n.350-2_350-1delinsAG) c.321_322delinsAG (p.Ala107=) | |
| 1 | g.7984893G>A | CA338166990 | PARK7 | c.410-1G>A (n.410-1G>A) c.350-1G>A (n.350-1G>A) c.322G>A (p.Gly108Ser) | |
| 1 | g.7984893G>C | CA338166991 | PARK7 | c.410-1G>C (n.410-1G>C) c.350-1G>C (n.350-1G>C) c.322G>C (p.Gly108Arg) | |
| 1 | g.7984893G>T | CA338166992 | PARK7 | c.410-1G>T (n.410-1G>T) c.350-1G>T (n.350-1G>T) c.322G>T (p.Gly108Cys) | |
| 1 | g.7984894del | CA739208332 | PARK7 | c.410del c.350del c.323del (p.Gly108ValfsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.7984894G>A | CA338166994 | PARK7 | c.410G>A (p.Gly137Asp) c.350G>A (p.Gly117Asp) c.323G>A (p.Gly108Asp) | gnomAD v4 |
| 1 | g.7984894G>C | CA338166995 | PARK7 | c.410G>C (p.Gly137Ala) c.350G>C (p.Gly117Ala) c.323G>C (p.Gly108Ala) | |
| 1 | g.7984894G>T | CA338166993 | PARK7 | c.410G>T (p.Gly137Val) c.350G>T (p.Gly117Val) c.323G>T (p.Gly108Val) | |
| 1 | g.7984895T>A | CA415838982 | PARK7 | c.411T>A (p.Gly137=) c.351T>A (p.Gly117=) c.324T>A (p.Gly108=) | |
| 1 | g.7984895T>C | CA415838984 | PARK7 | c.411T>C (p.Gly137=) c.351T>C (p.Gly117=) c.324T>C (p.Gly108=) | |
| 1 | g.7984895T>G | CA415838986 | PARK7 | c.411T>G (p.Gly137=) c.351T>G (p.Gly117=) c.324T>G (p.Gly108=) |