Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7984861_7984864dup | CA569613 | PARK7 | c.410-33_410-30dup (n.410-33_410-30dup) c.350-33_350-30dup (n.350-33_350-30dup) c.293-3_293dup | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.7984863G>A | CA338166918 | PARK7 | c.410-31G>A (n.410-31G>A) c.350-31G>A (n.350-31G>A) c.293-1G>A (n.293-1G>A) | |
1 | g.7984863G>C | CA569614 | PARK7 | c.410-31G>C (n.410-31G>C) c.350-31G>C (n.350-31G>C) c.293-1G>C (n.293-1G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984863G= | CA1152147295 | PARK7 | c.410-31G= (n.410-31G=) c.350-31G= (n.350-31G=) c.293-1G= (n.293-1G=) | |
1 | g.7984863G>T | CA338166917 | PARK7 | c.410-31G>T (n.410-31G>T) c.350-31G>T (n.350-31G>T) c.293-1G>T (n.293-1G>T) | |
1 | g.7984864G>A | CA338166919 | PARK7 | c.410-30G>A (n.410-30G>A) c.350-30G>A (n.350-30G>A) c.293G>A (p.Gly98Glu) | dbSNP |
1 | g.7984864G>C | CA338166920 | PARK7 | c.410-30G>C (n.410-30G>C) c.350-30G>C (n.350-30G>C) c.293G>C (p.Gly98Ala) | |
1 | g.7984864G= | CA1152147299 | PARK7 | c.410-30G= (n.410-30G=) c.350-30G= (n.350-30G=) c.293G= (p.Gly98=) | |
1 | g.7984864G>T | CA338166921 | PARK7 | c.410-30G>T (n.410-30G>T) c.350-30G>T (n.350-30G>T) c.293G>T (p.Gly98Val) | |
1 | g.7984865A= | CA1152147303 | PARK7 | c.410-29A= (n.410-29A=) c.350-29A= (n.350-29A=) c.294A= (p.Gly98=) | |
1 | g.7984865A>G | CA569615 | PARK7 | c.410-29A>G (n.410-29A>G) c.350-29A>G (n.350-29A>G) c.294A>G (p.Gly98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984865A>T | CA2742365514 | PARK7 | c.410-29A>T (n.410-29A>T) c.350-29A>T (n.350-29A>T) c.294A>T (p.Gly98=) | |
1 | g.7984866T>A | CA338166922 | PARK7 | c.410-28T>A (n.410-28T>A) c.350-28T>A (n.350-28T>A) c.295T>A (p.Cys99Ser) | |
1 | g.7984866T>C | CA338166923 | PARK7 | c.410-28T>C (n.410-28T>C) c.350-28T>C (n.350-28T>C) c.295T>C (p.Cys99Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984866T>G | CA338166924 | PARK7 | c.410-28T>G (n.410-28T>G) c.350-28T>G (n.350-28T>G) c.295T>G (p.Cys99Gly) | |
1 | g.7984866T= | CA1152147308 | PARK7 | c.410-28T= (n.410-28T=) c.350-28T= (n.350-28T=) c.295T= (p.Cys99=) | |
1 | g.7984867G>A | CA338166925 | PARK7 | c.410-27G>A (n.410-27G>A) c.350-27G>A (n.350-27G>A) c.296G>A (p.Cys99Tyr) | |
1 | g.7984867G>C | CA338166926 | PARK7 | c.410-27G>C (n.410-27G>C) c.350-27G>C (n.350-27G>C) c.296G>C (p.Cys99Ser) | |
1 | g.7984867G>T | CA338166927 | PARK7 | c.410-27G>T (n.410-27G>T) c.350-27G>T (n.350-27G>T) c.296G>T (p.Cys99Phe) | |
1 | g.7984868T>A | CA338166928 | PARK7 | c.410-26T>A (n.410-26T>A) c.350-26T>A (n.350-26T>A) c.297T>A (p.Cys99Ter) | |
1 | g.7984868T>G | CA338166929 | PARK7 | c.410-26T>G (n.410-26T>G) c.350-26T>G (n.350-26T>G) c.297T>G (p.Cys99Trp) | |
1 | g.7984869C>A | CA338166931 | PARK7 | c.410-25C>A (n.410-25C>A) c.350-25C>A (n.350-25C>A) c.298C>A (p.His100Asn) | gnomAD v4 |
1 | g.7984869C= | CA1152147314 | PARK7 | c.410-25C= (n.410-25C=) c.350-25C= (n.350-25C=) c.298C= (p.His100=) | |
1 | g.7984869C>G | CA338166932 | PARK7 | c.410-25C>G (n.410-25C>G) c.350-25C>G (n.350-25C>G) c.298C>G (p.His100Asp) | |
1 | g.7984869C>T | CA338166930 | PARK7 | c.410-25C>T (n.410-25C>T) c.350-25C>T (n.350-25C>T) c.298C>T (p.His100Tyr) | dbSNP |
1 | g.7984870A>C | CA338166934 | PARK7 | c.410-24A>C (n.410-24A>C) c.350-24A>C (n.350-24A>C) c.299A>C (p.His100Pro) | |
1 | g.7984870A>G | CA338166933 | PARK7 | c.410-24A>G (n.410-24A>G) c.350-24A>G (n.350-24A>G) c.299A>G (p.His100Arg) | gnomAD v4 |
1 | g.7984870A>T | CA338166935 | PARK7 | c.410-24A>T (n.410-24A>T) c.350-24A>T (n.350-24A>T) c.299A>T (p.His100Leu) | gnomAD v4 |
1 | g.7984871C>A | CA338166936 | PARK7 | c.410-23C>A (n.410-23C>A) c.350-23C>A (n.350-23C>A) c.300C>A (p.His100Gln) | |
1 | g.7984871C= | CA1152147322 | PARK7 | c.410-23C= (n.410-23C=) c.350-23C= (n.350-23C=) c.300C= (p.His100=) | |
1 | g.7984871C>G | CA338166937 | PARK7 | c.410-23C>G (n.410-23C>G) c.350-23C>G (n.350-23C>G) c.300C>G (p.His100Gln) | |
1 | g.7984871C>T | CA1152147324 | PARK7 | c.410-23C>T (n.410-23C>T) c.350-23C>T (n.350-23C>T) c.300C>T (p.His100=) | dbSNP |
1 | g.7984872C>A | CA338166938 | PARK7 | c.410-22C>A (n.410-22C>A) c.350-22C>A (n.350-22C>A) c.301C>A (p.Leu101Ile) | |
1 | g.7984872C>G | CA338166939 | PARK7 | c.410-22C>G (n.410-22C>G) c.350-22C>G (n.350-22C>G) c.301C>G (p.Leu101Val) | |
1 | g.7984872C>T | CA338166940 | PARK7 | c.410-22C>T (n.410-22C>T) c.350-22C>T (n.350-22C>T) c.301C>T (p.Leu101Phe) | |
1 | g.7984873T>A | CA338166941 | PARK7 | c.410-21T>A (n.410-21T>A) c.350-21T>A (n.350-21T>A) c.302T>A (p.Leu101His) | |
1 | g.7984873T>C | CA338166942 | PARK7 | c.410-21T>C (n.410-21T>C) c.350-21T>C (n.350-21T>C) c.302T>C (p.Leu101Pro) | |
1 | g.7984873T>G | CA338166943 | PARK7 | c.410-21T>G (n.410-21T>G) c.350-21T>G (n.350-21T>G) c.302T>G (p.Leu101Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984873T= | CA1152147330 | PARK7 | c.410-21T= (n.410-21T=) c.350-21T= (n.350-21T=) c.302T= (p.Leu101=) | |
1 | g.7984876dup | CA2840117072 | PARK7 | c.410-18dup (n.410-18dup) c.350-18dup (n.350-18dup) c.305dup (p.Cys103LeufsTer12) | |
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.7984875T>A | CA338166944 | PARK7 | c.410-19T>A (n.410-19T>A) c.350-19T>A (n.350-19T>A) c.304T>A (p.Phe102Ile) | |
1 | g.7984875T>C | CA338166945 | PARK7 | c.410-19T>C (n.410-19T>C) c.350-19T>C (n.350-19T>C) c.304T>C (p.Phe102Leu) | gnomAD v4 |
1 | g.7984875T>G | CA338166946 | PARK7 | c.410-19T>G (n.410-19T>G) c.350-19T>G (n.350-19T>G) c.304T>G (p.Phe102Val) | |
1 | g.7984876T>A | CA338166948 | PARK7 | c.410-18T>A (n.410-18T>A) c.350-18T>A (n.350-18T>A) c.305T>A (p.Phe102Tyr) | |
1 | g.7984876T>C | CA569616 | PARK7 | c.410-18T>C (n.410-18T>C) c.350-18T>C (n.350-18T>C) c.305T>C (p.Phe102Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984876T>G | CA338166947 | PARK7 | c.410-18T>G (n.410-18T>G) c.350-18T>G (n.350-18T>G) c.305T>G (p.Phe102Cys) | |
1 | g.7984876T= | CA1152147333 | PARK7 | c.410-18T= (n.410-18T=) c.350-18T= (n.350-18T=) c.305T= (p.Phe102=) | |
1 | g.7984877C>A | CA338166949 | PARK7 | c.410-17C>A (n.410-17C>A) c.350-17C>A (n.350-17C>A) c.306C>A (p.Phe102Leu) | |
1 | g.7984877C>G | CA338166950 | PARK7 | c.410-17C>G (n.410-17C>G) c.350-17C>G (n.350-17C>G) c.306C>G (p.Phe102Leu) | |
1 | g.7984878T>A | CA338166951 | PARK7 | c.410-16T>A (n.410-16T>A) c.350-16T>A (n.350-16T>A) c.307T>A (p.Cys103Ser) | |
1 | g.7984878T>C | CA338166952 | PARK7 | c.410-16T>C (n.410-16T>C) c.350-16T>C (n.350-16T>C) c.307T>C (p.Cys103Arg) | |
1 | g.7984878T>G | CA338166953 | PARK7 | c.410-16T>G (n.410-16T>G) c.350-16T>G (n.350-16T>G) c.307T>G (p.Cys103Gly) | |
1 | g.7984879G>A | CA338166954 | PARK7 | c.410-15G>A (n.410-15G>A) c.350-15G>A (n.350-15G>A) c.308G>A (p.Cys103Tyr) | |
1 | g.7984879G>C | CA338166955 | PARK7 | c.410-15G>C (n.410-15G>C) c.350-15G>C (n.350-15G>C) c.308G>C (p.Cys103Ser) | |
1 | g.7984879G= | CA1152147334 | PARK7 | c.410-15G= (n.410-15G=) c.350-15G= (n.350-15G=) c.308G= (p.Cys103=) | |
1 | g.7984879G>T | CA338166956 | PARK7 | c.410-15G>T (n.410-15G>T) c.350-15G>T (n.350-15G>T) c.308G>T (p.Cys103Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984880T>A | CA338166957 | PARK7 | c.410-14T>A (n.410-14T>A) c.350-14T>A (n.350-14T>A) c.309T>A (p.Cys103Ter) | |
1 | g.7984880T>G | CA338166958 | PARK7 | c.410-14T>G (n.410-14T>G) c.350-14T>G (n.350-14T>G) c.309T>G (p.Cys103Trp) | |
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) | ClinVar 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=) | |
1 | g.7984896C>A | CA338166996 | PARK7 | c.412C>A (p.His138Asn) c.352C>A (p.His118Asn) c.325C>A (p.His109Asn) | dbSNP |
1 | g.7984896C= | CA1152147360 | PARK7 | c.412C= (p.His138=) c.352C= (p.His118=) c.325C= (p.His109=) | |
1 | g.7984896C>G | CA338166997 | PARK7 | c.412C>G (p.His138Asp) c.352C>G (p.His118Asp) c.325C>G (p.His109Asp) | gnomAD v4 |
1 | g.7984896C>T | CA338166998 | PARK7 | c.412C>T (p.His138Tyr) c.352C>T (p.His118Tyr) c.325C>T (p.His109Tyr) | gnomAD v4 |
1 | g.7984896dup | CA2643056872 | PARK7 | c.412dup (p.His138ProfsTer6) c.352dup (p.His118ProfsTer6) c.325dup (p.His109ProfsTer6) | gnomAD v4 |
1 | g.7984897A= | CA1152147363 | PARK7 | c.413A= (p.His138=) c.353A= (p.His118=) c.326A= (p.His109=) | |
1 | g.7984897A>C | CA338166999 | PARK7 | c.413A>C (p.His138Pro) c.353A>C (p.His118Pro) c.326A>C (p.His109Pro) | |
1 | g.7984897A>G | CA569618 | PARK7 | c.413A>G (p.His138Arg) c.353A>G (p.His118Arg) c.326A>G (p.His109Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984897A>T | CA338167000 | PARK7 | c.413A>T (p.His138Leu) c.353A>T (p.His118Leu) c.326A>T (p.His109Leu) | |
1 | g.7984897_7984898del | CA2643056873 | PARK7 | c.413_414del (p.His138LeufsTer5) c.353_354del (p.His118LeufsTer5) c.326_327del (p.His109LeufsTer5) | gnomAD v4 |
1 | g.7984898T>A | CA338167001 | PARK7 | c.414T>A (p.His138Gln) c.354T>A (p.His118Gln) c.327T>A (p.His109Gln) | |
1 | g.7984898T>C | CA415838988 | PARK7 | c.414T>C (p.His138=) c.354T>C (p.His118=) c.327T>C (p.His109=) | |
1 | g.7984898T>G | CA338167002 | PARK7 | c.414T>G (p.His138Gln) c.354T>G (p.His118Gln) c.327T>G (p.His109Gln) | |
1 | g.7984899T>A | CA338167003 | PARK7 | c.415T>A (p.Tyr139Asn) c.355T>A (p.Tyr119Asn) c.328T>A (p.Tyr110Asn) | |
1 | g.7984899T>C | CA338167004 | PARK7 | c.415T>C (p.Tyr139His) c.355T>C (p.Tyr119His) c.328T>C (p.Tyr110His) | |
1 | g.7984899T>G | CA338167005 | PARK7 | c.415T>G (p.Tyr139Asp) c.355T>G (p.Tyr119Asp) c.328T>G (p.Tyr110Asp) | |
1 | g.7984900A>C | CA338167006 | PARK7 | c.416A>C (p.Tyr139Ser) c.356A>C (p.Tyr119Ser) c.329A>C (p.Tyr110Ser) | |
1 | g.7984900A>G | CA338167007 | PARK7 | c.416A>G (p.Tyr139Cys) c.356A>G (p.Tyr119Cys) c.329A>G (p.Tyr110Cys) | gnomAD v4 |
1 | g.7984900A>T | CA338167008 | PARK7 | c.416A>T (p.Tyr139Phe) c.356A>T (p.Tyr119Phe) c.329A>T (p.Tyr110Phe) | |
1 | g.7984901C>A | CA338167010 | PARK7 | c.417C>A (p.Tyr139Ter) c.357C>A (p.Tyr119Ter) c.330C>A (p.Tyr110Ter) | |
1 | g.7984901C>G | CA338167009 | PARK7 | c.417C>G (p.Tyr139Ter) c.357C>G (p.Tyr119Ter) c.330C>G (p.Tyr110Ter) | |
1 | g.7984901C>T | CA415838990 | PARK7 | c.417C>T (p.Tyr139=) c.357C>T (p.Tyr119=) c.330C>T (p.Tyr110=) | |
1 | g.7984902A= | CA1143370190 | PARK7 | c.418A= (p.Thr140=) c.358A= (p.Thr120=) c.331A= (p.Thr111=) | |
1 | g.7984902A>C | CA338167011 | PARK7 | c.418A>C (p.Thr140Pro) c.358A>C (p.Thr120Pro) c.331A>C (p.Thr111Pro) | |
1 | g.7984902A>G | CA17286811 | PARK7 | c.418A>G (p.Thr140Ala) c.358A>G (p.Thr120Ala) c.331A>G (p.Thr111Ala) | dbSNP gnomAD v4 |
1 | g.7984902A>T | CA338167012 | PARK7 | c.418A>T (p.Thr140Ser) c.358A>T (p.Thr120Ser) c.331A>T (p.Thr111Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984903C>A | CA338167013 | PARK7 | c.419C>A (p.Thr140Asn) c.359C>A (p.Thr120Asn) c.332C>A (p.Thr111Asn) | |
1 | g.7984903C>G | CA338167014 | PARK7 | c.419C>G (p.Thr140Ser) c.359C>G (p.Thr120Ser) c.332C>G (p.Thr111Ser) | |
1 | g.7984903C>T | CA338167015 | PARK7 | c.419C>T (p.Thr140Ile) c.359C>T (p.Thr120Ile) c.332C>T (p.Thr111Ile) | gnomAD v4 |
1 | g.7984904C>A | CA415838996 | PARK7 | c.420C>A (p.Thr140=) c.360C>A (p.Thr120=) c.333C>A (p.Thr111=) | |
1 | g.7984904C>G | CA415838997 | PARK7 | c.420C>G (p.Thr140=) c.360C>G (p.Thr120=) c.333C>G (p.Thr111=) | |
1 | g.7984904C>T | CA415838998 | PARK7 | c.420C>T (p.Thr140=) c.360C>T (p.Thr120=) c.333C>T (p.Thr111=) | |
1 | g.7984905T>A | CA338167018 | PARK7 | c.421T>A (p.Tyr141Asn) c.361T>A (p.Tyr121Asn) c.334T>A (p.Tyr112Asn) | |
1 | g.7984905T>C | CA338167016 | PARK7 | c.421T>C (p.Tyr141His) c.361T>C (p.Tyr121His) c.334T>C (p.Tyr112His) | |
1 | g.7984905T>G | CA338167017 | PARK7 | c.421T>G (p.Tyr141Asp) c.361T>G (p.Tyr121Asp) c.334T>G (p.Tyr112Asp) | |
1 | g.7984906A>C | CA338167019 | PARK7 | c.422A>C (p.Tyr141Ser) c.362A>C (p.Tyr121Ser) c.335A>C (p.Tyr112Ser) | |
1 | g.7984906A>G | CA338167020 | PARK7 | c.422A>G (p.Tyr141Cys) c.362A>G (p.Tyr121Cys) c.335A>G (p.Tyr112Cys) | |
1 | g.7984906A>T | CA338167021 | PARK7 | c.422A>T (p.Tyr141Phe) c.362A>T (p.Tyr121Phe) c.335A>T (p.Tyr112Phe) | |
1 | g.7984907C>A | CA338167022 | PARK7 | c.423C>A (p.Tyr141Ter) c.363C>A (p.Tyr121Ter) c.336C>A (p.Tyr112Ter) | |
1 | g.7984907C>G | CA338167023 | PARK7 | c.423C>G (p.Tyr141Ter) c.363C>G (p.Tyr121Ter) c.336C>G (p.Tyr112Ter) | |
1 | g.7984907C>T | CA415839000 | PARK7 | c.423C>T (p.Tyr141=) c.363C>T (p.Tyr121=) c.336C>T (p.Tyr112=) | gnomAD v4 |
1 | g.7984908T>A | CA338167024 | PARK7 | c.424T>A (p.Ser142Thr) c.364T>A (p.Ser122Thr) c.337T>A (p.Ser113Thr) | |
1 | g.7984908T>C | CA338167026 | PARK7 | c.424T>C (p.Ser142Pro) c.364T>C (p.Ser122Pro) c.337T>C (p.Ser113Pro) | |
1 | g.7984908T>G | CA338167025 | PARK7 | c.424T>G (p.Ser142Ala) c.364T>G (p.Ser122Ala) c.337T>G (p.Ser113Ala) | |
1 | g.7984909C>A | CA338167027 | PARK7 | c.425C>A (p.Ser142Tyr) c.365C>A (p.Ser122Tyr) c.338C>A (p.Ser113Tyr) | |
1 | g.7984909C= | CA1152147372 | PARK7 | c.425C= (p.Ser142=) c.365C= (p.Ser122=) c.338C= (p.Ser113=) | |
1 | g.7984909C>G | CA338167028 | PARK7 | c.425C>G (p.Ser142Cys) c.365C>G (p.Ser122Cys) c.338C>G (p.Ser113Cys) | |
1 | g.7984909C>T | CA338167029 | PARK7 | c.425C>T (p.Ser142Phe) c.365C>T (p.Ser122Phe) c.338C>T (p.Ser113Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.7984910T>A | CA415839004 | PARK7 | c.426T>A (p.Ser142=) c.366T>A (p.Ser122=) c.339T>A (p.Ser113=) | |
1 | g.7984910T>C | CA415839005 | PARK7 | c.426T>C (p.Ser142=) c.366T>C (p.Ser122=) c.339T>C (p.Ser113=) | |
1 | g.7984910T>G | CA415839006 | PARK7 | c.426T>G (p.Ser142=) c.366T>G (p.Ser122=) c.339T>G (p.Ser113=) | |
1 | g.7984911G>A | CA338167030 | PARK7 | c.427G>A (p.Glu143Lys) c.367G>A (p.Glu123Lys) c.340G>A (p.Glu114Lys) | |
1 | g.7984911G>C | CA338167031 | PARK7 | c.427G>C (p.Glu143Gln) c.367G>C (p.Glu123Gln) c.340G>C (p.Glu114Gln) | dbSNP |
1 | g.7984911G= | CA1152147377 | PARK7 | c.427G= (p.Glu143=) c.367G= (p.Glu123=) c.340G= (p.Glu114=) | |
1 | g.7984911G>T | CA338167032 | PARK7 | c.427G>T (p.Glu143Ter) c.367G>T (p.Glu123Ter) c.340G>T (p.Glu114Ter) | |
1 | g.7984912A>C | CA338167033 | PARK7 | c.428A>C (p.Glu143Ala) c.368A>C (p.Glu123Ala) c.341A>C (p.Glu114Ala) | |
1 | g.7984912A>G | CA338167034 | PARK7 | c.428A>G (p.Glu143Gly) c.368A>G (p.Glu123Gly) c.341A>G (p.Glu114Gly) | |
1 | g.7984912A>T | CA338167035 | PARK7 | c.428A>T (p.Glu143Val) c.368A>T (p.Glu123Val) c.341A>T (p.Glu114Val) | |
1 | g.7984913G>A | CA569619 | PARK7 | c.429G>A (p.Glu143=) c.369G>A (p.Glu123=) c.342G>A (p.Glu114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984913G>C | CA338167036 | PARK7 | c.429G>C (p.Glu143Asp) c.369G>C (p.Glu123Asp) c.342G>C (p.Glu114Asp) | |
1 | g.7984913G= | CA1141747306 | PARK7 | c.429G= (p.Glu143=) c.369G= (p.Glu123=) c.342G= (p.Glu114=) | |
1 | g.7984913G>T | CA338167037 | PARK7 | c.429G>T (p.Glu143Asp) c.369G>T (p.Glu123Asp) c.342G>T (p.Glu114Asp) | |
1 | g.7984914A>C | CA338167040 | PARK7 | c.430A>C (p.Asn144His) c.370A>C (p.Asn124His) c.343A>C (p.Asn115His) | |
1 | g.7984914A>G | CA338167038 | PARK7 | c.430A>G (p.Asn144Asp) c.370A>G (p.Asn124Asp) c.343A>G (p.Asn115Asp) | |
1 | g.7984914A>T | CA338167039 | PARK7 | c.430A>T (p.Asn144Tyr) c.370A>T (p.Asn124Tyr) c.343A>T (p.Asn115Tyr) | |
1 | g.7984915A= | CA1149120420 | PARK7 | c.431A= (p.Asn144=) c.371A= (p.Asn124=) c.344A= (p.Asn115=) | |
1 | g.7984915A>C | CA338167041 | PARK7 | c.431A>C (p.Asn144Thr) c.371A>C (p.Asn124Thr) c.344A>C (p.Asn115Thr) | |
1 | g.7984915A>G | CA569620 | PARK7 | c.431A>G (p.Asn144Ser) c.371A>G (p.Asn124Ser) c.344A>G (p.Asn115Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984915A>T | CA338167042 | PARK7 | c.431A>T (p.Asn144Ile) c.371A>T (p.Asn124Ile) c.344A>T (p.Asn115Ile) | |
1 | g.7984916T>A | CA338167043 | PARK7 | c.432T>A (p.Asn144Lys) c.372T>A (p.Asn124Lys) c.345T>A (p.Asn115Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984916T>C | CA415839014 | PARK7 | c.432T>C (p.Asn144=) c.372T>C (p.Asn124=) c.345T>C (p.Asn115=) | gnomAD v4 |
1 | g.7984916T>G | CA338167044 | PARK7 | c.432T>G (p.Asn144Lys) c.372T>G (p.Asn124Lys) c.345T>G (p.Asn115Lys) | |
1 | g.7984916T= | CA1152147382 | PARK7 | c.432T= (p.Asn144=) c.372T= (p.Asn124=) c.345T= (p.Asn115=) | |
1 | g.7984916_7984917delinsTC | CA1152147386 | PARK7 | c.432_433delinsTC (p.Asn144=) c.372_373delinsTC (p.Asn124=) c.345_346delinsTC (p.Asn115=) | |
1 | g.7984917del | CA998307648 | PARK7 | c.433del (p.Arg145ValfsTer7) c.373del (p.Arg125ValfsTer7) c.346del (p.Arg116ValfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984917C>A | CA17286812 | PARK7 | c.433C>A (p.Arg145Ser) c.373C>A (p.Arg125Ser) c.346C>A (p.Arg116Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984917C= | CA1152147387 | PARK7 | c.433C= (p.Arg145=) c.373C= (p.Arg125=) c.346C= (p.Arg116=) | |
1 | g.7984917C>G | CA338167045 | PARK7 | c.433C>G (p.Arg145Gly) c.373C>G (p.Arg125Gly) c.346C>G (p.Arg116Gly) | gnomAD v4 |
1 | g.7984917C>T | CA569621 | PARK7 | c.433C>T (p.Arg145Cys) c.373C>T (p.Arg125Cys) c.346C>T (p.Arg116Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984918G>A | CA569622 | PARK7 | c.434G>A (p.Arg145His) c.374G>A (p.Arg125His) c.347G>A (p.Arg116His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984918G>C | CA338167046 | PARK7 | c.434G>C (p.Arg145Pro) c.374G>C (p.Arg125Pro) c.347G>C (p.Arg116Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984918G= | CA1142255632 | PARK7 | c.434G= (p.Arg145=) c.374G= (p.Arg125=) c.347G= (p.Arg116=) | |
1 | g.7984918G>T | CA338167047 | PARK7 | c.434G>T (p.Arg145Leu) c.374G>T (p.Arg125Leu) c.347G>T (p.Arg116Leu) | |
1 | g.7984919T>A | CA415839016 | PARK7 | c.435T>A (p.Arg145=) c.375T>A (p.Arg125=) c.348T>A (p.Arg116=) | |
1 | g.7984919T>C | CA415839017 | PARK7 | c.435T>C (p.Arg145=) c.375T>C (p.Arg125=) c.348T>C (p.Arg116=) | |
1 | g.7984919T>G | CA415839019 | PARK7 | c.435T>G (p.Arg145=) c.375T>G (p.Arg125=) c.348T>G (p.Arg116=) | |
1 | g.7984920G>A | CA17286813 | PARK7 | c.436G>A (p.Val146Met) c.376G>A (p.Val126Met) c.349G>A (p.Val117Met) | ClinVar dbSNP gnomAD v2 |
1 | g.7984920G>C | CA338167049 | PARK7 | c.436G>C (p.Val146Leu) c.376G>C (p.Val126Leu) c.349G>C (p.Val117Leu) | |
1 | g.7984920G= | CA1144032736 | PARK7 | c.436G= (p.Val146=) c.376G= (p.Val126=) c.349G= (p.Val117=) | |
1 | g.7984920G>T | CA338167048 | PARK7 | c.436G>T (p.Val146Leu) c.376G>T (p.Val126Leu) c.349G>T (p.Val117Leu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984921T>A | CA338167050 | PARK7 | c.437T>A (p.Val146Glu) c.377T>A (p.Val126Glu) c.350T>A (p.Val117Glu) | |
1 | g.7984921T>C | CA338167051 | PARK7 | c.437T>C (p.Val146Ala) c.377T>C (p.Val126Ala) c.350T>C (p.Val117Ala) | |
1 | g.7984921T>G | CA569623 | PARK7 | c.437T>G (p.Val146Gly) c.377T>G (p.Val126Gly) c.350T>G (p.Val117Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984921T= | CA1152147394 | PARK7 | c.437T= (p.Val146=) c.377T= (p.Val126=) c.350T= (p.Val117=) | |
1 | g.7984922G>A | CA415839025 | PARK7 | c.438G>A (p.Val146=) c.378G>A (p.Val126=) c.351G>A (p.Val117=) | |
1 | g.7984922G>C | CA415839024 | PARK7 | c.438G>C (p.Val146=) c.378G>C (p.Val126=) c.351G>C (p.Val117=) | |
1 | g.7984922G>T | CA415839023 | PARK7 | c.438G>T (p.Val146=) c.378G>T (p.Val126=) c.351G>T (p.Val117=) | |
1 | g.7984923G>A | CA338167052 | PARK7 | c.439G>A (p.Glu147Lys) c.379G>A (p.Glu127Lys) c.352G>A (p.Glu118Lys) | |
1 | g.7984923G>C | CA338167054 | PARK7 | c.439G>C (p.Glu147Gln) c.379G>C (p.Glu127Gln) c.352G>C (p.Glu118Gln) | |
1 | g.7984923G= | CA1152147400 | PARK7 | c.439G= (p.Glu147=) c.379G= (p.Glu127=) c.352G= (p.Glu118=) | |
1 | g.7984923G>T | CA338167053 | PARK7 | c.439G>T (p.Glu147Ter) c.379G>T (p.Glu127Ter) c.352G>T (p.Glu118Ter) | |
1 | g.7984924A>C | CA338167055 | PARK7 | c.440A>C (p.Glu147Ala) c.380A>C (p.Glu127Ala) c.353A>C (p.Glu118Ala) | |
1 | g.7984924A>G | CA338167056 | PARK7 | c.440A>G (p.Glu147Gly) c.380A>G (p.Glu127Gly) c.353A>G (p.Glu118Gly) | |
1 | g.7984924A>T | CA338167057 | PARK7 | c.440A>T (p.Glu147Val) c.380A>T (p.Glu127Val) c.353A>T (p.Glu118Val) | |
1 | g.7984928dup | CA521019989 | PARK7 | c.444dup (p.Asp149ArgfsTer22) c.384dup (p.Asp129ArgfsTer22) c.357dup (p.Asp120ArgfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984925A>C | CA338167058 | PARK7 | c.441A>C (p.Glu147Asp) c.381A>C (p.Glu127Asp) c.354A>C (p.Glu118Asp) | |
1 | g.7984925A>G | CA415839028 | PARK7 | c.441A>G (p.Glu147=) c.381A>G (p.Glu127=) c.354A>G (p.Glu118=) | gnomAD v4 |
1 | g.7984925A>T | CA338167059 | PARK7 | c.441A>T (p.Glu147Asp) c.381A>T (p.Glu127Asp) c.354A>T (p.Glu118Asp) | |
1 | g.7984926A= | CA1152147402 | PARK7 | c.442A= (p.Lys148=) c.382A= (p.Lys128=) c.355A= (p.Lys119=) | |
1 | g.7984926A>C | CA338167060 | PARK7 | c.442A>C (p.Lys148Gln) c.382A>C (p.Lys128Gln) c.355A>C (p.Lys119Gln) | |
1 | g.7984926A>G | CA338167061 | PARK7 | c.442A>G (p.Lys148Glu) c.382A>G (p.Lys128Glu) c.355A>G (p.Lys119Glu) | |
1 | g.7984926A>T | CA338167062 | PARK7 | c.442A>T (p.Lys148Ter) c.382A>T (p.Lys128Ter) c.355A>T (p.Lys119Ter) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984927A= | CA1152147406 | PARK7 | c.443A= (p.Lys148=) c.383A= (p.Lys128=) c.356A= (p.Lys119=) | |
1 | g.7984927A>C | CA338167063 | PARK7 | c.443A>C (p.Lys148Thr) c.383A>C (p.Lys128Thr) c.356A>C (p.Lys119Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984927A>G | CA338167064 | PARK7 | c.443A>G (p.Lys148Arg) c.383A>G (p.Lys128Arg) c.356A>G (p.Lys119Arg) | |
1 | g.7984927A>T | CA338167065 | PARK7 | c.443A>T (p.Lys148Ile) c.383A>T (p.Lys128Ile) c.356A>T (p.Lys119Ile) | |
1 | g.7984928A= | CA1152147411 | PARK7 | c.444A= (p.Lys148=) c.384A= (p.Lys128=) c.357A= (p.Lys119=) | |
1 | g.7984928A>C | CA338167066 | PARK7 | c.444A>C (p.Lys148Asn) c.384A>C (p.Lys128Asn) c.357A>C (p.Lys119Asn) | |
1 | g.7984928A>G | CA569624 | PARK7 | c.444A>G (p.Lys148=) c.384A>G (p.Lys128=) c.357A>G (p.Lys119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984928A>T | CA338167067 | PARK7 | c.444A>T (p.Lys148Asn) c.384A>T (p.Lys128Asn) c.357A>T (p.Lys119Asn) | |
1 | g.7984929G>A | CA338167068 | PARK7 | c.445G>A (p.Asp149Asn) c.385G>A (p.Asp129Asn) c.358G>A (p.Asp120Asn) | gnomAD v4 |
1 | g.7984929G>C | CA338167069 | PARK7 | c.445G>C (p.Asp149His) c.385G>C (p.Asp129His) c.358G>C (p.Asp120His) | |
1 | g.7984929G>T | CA338167070 | PARK7 | c.445G>T (p.Asp149Tyr) c.385G>T (p.Asp129Tyr) c.358G>T (p.Asp120Tyr) | |
1 | g.7984930A= | CA1140886315 | PARK7 | c.446A= (p.Asp149=) c.386A= (p.Asp129=) c.359A= (p.Asp120=) | |
1 | g.7984930A>C | CA254094 | PARK7 | c.446A>C (p.Asp149Ala) c.386A>C (p.Asp129Ala) c.359A>C (p.Asp120Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984930A>G | CA338167071 | PARK7 | c.446A>G (p.Asp149Gly) c.386A>G (p.Asp129Gly) c.359A>G (p.Asp120Gly) | |
1 | g.7984930A>T | CA338167072 | PARK7 | c.446A>T (p.Asp149Val) c.386A>T (p.Asp129Val) c.359A>T (p.Asp120Val) | |
1 | g.7984931C>A | CA338167073 | PARK7 | c.447C>A (p.Asp149Glu) c.387C>A (p.Asp129Glu) c.360C>A (p.Asp120Glu) | |
1 | g.7984931C= | CA1142011312 | PARK7 | c.447C= (p.Asp149=) c.387C= (p.Asp129=) c.360C= (p.Asp120=) | |
1 | g.7984931C>G | CA338167074 | PARK7 | c.447C>G (p.Asp149Glu) c.387C>G (p.Asp129Glu) c.360C>G (p.Asp120Glu) | |
1 | g.7984931C>T | CA569625 | PARK7 | c.447C>T (p.Asp149=) c.387C>T (p.Asp129=) c.360C>T (p.Asp120=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984932G>A | CA569626 | PARK7 | c.448G>A (p.Gly150Ser) c.388G>A (p.Gly130Ser) c.361G>A (p.Gly121Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984932G>C | CA338167076 | PARK7 | c.448G>C (p.Gly150Arg) c.388G>C (p.Gly130Arg) c.361G>C (p.Gly121Arg) | gnomAD v4 |
1 | g.7984932G= | CA1143596006 | PARK7 | c.448G= (p.Gly150=) c.388G= (p.Gly130=) c.361G= (p.Gly121=) | |
1 | g.7984932G>T | CA338167075 | PARK7 | c.448G>T (p.Gly150Cys) c.388G>T (p.Gly130Cys) c.361G>T (p.Gly121Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984933G>A | CA338167077 | PARK7 | c.449G>A (p.Gly150Asp) c.389G>A (p.Gly130Asp) c.362G>A (p.Gly121Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984933G>C | CA338167078 | PARK7 | c.449G>C (p.Gly150Ala) c.389G>C (p.Gly130Ala) c.362G>C (p.Gly121Ala) | |
1 | g.7984933G= | CA1152147441 | PARK7 | c.449G= (p.Gly150=) c.389G= (p.Gly130=) c.362G= (p.Gly121=) | |
1 | g.7984933G>T | CA338167079 | PARK7 | c.449G>T (p.Gly150Val) c.389G>T (p.Gly130Val) c.362G>T (p.Gly121Val) | |
1 | g.7984934C>A | CA415839041 | PARK7 | c.450C>A (p.Gly150=) c.390C>A (p.Gly130=) c.363C>A (p.Gly121=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984934C= | CA1152147445 | PARK7 | c.450C= (p.Gly150=) c.390C= (p.Gly130=) c.363C= (p.Gly121=) | |
1 | g.7984934C>G | CA415839042 | PARK7 | c.450C>G (p.Gly150=) c.390C>G (p.Gly130=) c.363C>G (p.Gly121=) | |
1 | g.7984934C>T | CA415839043 | PARK7 | c.450C>T (p.Gly150=) c.390C>T (p.Gly130=) c.363C>T (p.Gly121=) | |
1 | g.7984935C>A | CA338167080 | PARK7 | c.451C>A (p.Leu151Met) c.391C>A (p.Leu131Met) c.364C>A (p.Leu122Met) | |
1 | g.7984935C>G | CA338167081 | PARK7 | c.451C>G (p.Leu151Val) c.391C>G (p.Leu131Val) c.364C>G (p.Leu122Val) | |
1 | g.7984935C>T | CA415839044 | PARK7 | c.451C>T (p.Leu151=) c.391C>T (p.Leu131=) c.364C>T (p.Leu122=) | |
1 | g.7984936T>A | CA338167082 | PARK7 | c.452T>A (p.Leu151Gln) c.392T>A (p.Leu131Gln) c.365T>A (p.Leu122Gln) | |
1 | g.7984936T>C | CA338167083 | PARK7 | c.452T>C (p.Leu151Pro) c.392T>C (p.Leu131Pro) c.365T>C (p.Leu122Pro) | |
1 | g.7984936T>G | CA338167084 | PARK7 | c.452T>G (p.Leu151Arg) c.392T>G (p.Leu131Arg) c.365T>G (p.Leu122Arg) | |
1 | g.7984937G>A | CA415839048 | PARK7 | c.453G>A (p.Leu151=) c.393G>A (p.Leu131=) c.366G>A (p.Leu122=) | |
1 | g.7984937G>C | CA569627 | PARK7 | c.453G>C (p.Leu151=) c.393G>C (p.Leu131=) c.366G>C (p.Leu122=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984937G= | CA1152147449 | PARK7 | c.453G= (p.Leu151=) c.393G= (p.Leu131=) c.366G= (p.Leu122=) | |
1 | g.7984937G>T | CA415839050 | PARK7 | c.453G>T (p.Leu151=) c.393G>T (p.Leu131=) c.366G>T (p.Leu122=) | |
1 | g.7984938A>C | CA338167085 | PARK7 | c.454A>C (p.Ile152Leu) c.394A>C (p.Ile132Leu) c.367A>C (p.Ile123Leu) | |
1 | g.7984938A>G | CA338167086 | PARK7 | c.454A>G (p.Ile152Val) c.394A>G (p.Ile132Val) c.367A>G (p.Ile123Val) | |
1 | g.7984938A>T | CA338167087 | PARK7 | c.454A>T (p.Ile152Phe) c.394A>T (p.Ile132Phe) c.367A>T (p.Ile123Phe) | |
1 | g.7984939T>A | CA338167090 | PARK7 | c.455T>A (p.Ile152Asn) c.395T>A (p.Ile132Asn) c.368T>A (p.Ile123Asn) | |
1 | g.7984939T>C | CA338167088 | PARK7 | c.455T>C (p.Ile152Thr) c.395T>C (p.Ile132Thr) c.368T>C (p.Ile123Thr) | |
1 | g.7984939T>G | CA338167089 | PARK7 | c.455T>G (p.Ile152Ser) c.395T>G (p.Ile132Ser) c.368T>G (p.Ile123Ser) | |
1 | g.7984940T>A | CA415839052 | PARK7 | c.456T>A (p.Ile152=) c.396T>A (p.Ile132=) c.369T>A (p.Ile123=) | |
1 | g.7984940T>C | CA415839054 | PARK7 | c.456T>C (p.Ile152=) c.396T>C (p.Ile132=) c.369T>C (p.Ile123=) | |
1 | g.7984940T>G | CA338167091 | PARK7 | c.456T>G (p.Ile152Met) c.396T>G (p.Ile132Met) c.369T>G (p.Ile123Met) | |
1 | g.7984941C>A | CA338167092 | PARK7 | c.457C>A (p.Leu153Ile) c.397C>A (p.Leu133Ile) c.370C>A (p.Leu124Ile) | |
1 | g.7984941C>G | CA338167093 | PARK7 | c.457C>G (p.Leu153Val) c.397C>G (p.Leu133Val) c.370C>G (p.Leu124Val) | |
1 | g.7984941C>T | CA338167094 | PARK7 | c.457C>T (p.Leu153Phe) c.397C>T (p.Leu133Phe) c.370C>T (p.Leu124Phe) | |
1 | g.7984942T>A | CA338167095 | PARK7 | c.458T>A (p.Leu153His) c.398T>A (p.Leu133His) c.371T>A (p.Leu124His) | |
1 | g.7984942T>C | CA338167096 | PARK7 | c.458T>C (p.Leu153Pro) c.398T>C (p.Leu133Pro) c.371T>C (p.Leu124Pro) | dbSNP |
1 | g.7984942T>G | CA338167097 | PARK7 | c.458T>G (p.Leu153Arg) c.398T>G (p.Leu133Arg) c.371T>G (p.Leu124Arg) | gnomAD v4 |
1 | g.7984942T= | CA1152147452 | PARK7 | c.458T= (p.Leu153=) c.398T= (p.Leu133=) c.371T= (p.Leu124=) | |
1 | g.7984943T>A | CA415839057 | PARK7 | c.459T>A (p.Leu153=) c.399T>A (p.Leu133=) c.372T>A (p.Leu124=) | dbSNP |
1 | g.7984943T>C | CA415839059 | PARK7 | c.459T>C (p.Leu153=) c.399T>C (p.Leu133=) c.372T>C (p.Leu124=) | |
1 | g.7984943T>G | CA415839061 | PARK7 | c.459T>G (p.Leu153=) c.399T>G (p.Leu133=) c.372T>G (p.Leu124=) | |
1 | g.7984944A= | CA1152147457 | PARK7 | c.460A= (p.Thr154=) c.400A= (p.Thr134=) c.373A= (p.Thr125=) | |
1 | g.7984944A>C | CA338167098 | PARK7 | c.460A>C (p.Thr154Pro) c.400A>C (p.Thr134Pro) c.373A>C (p.Thr125Pro) | |
1 | g.7984944A>G | CA338167099 | PARK7 | c.460A>G (p.Thr154Ala) c.400A>G (p.Thr134Ala) c.373A>G (p.Thr125Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984944A>T | CA338167100 | PARK7 | c.460A>T (p.Thr154Ser) c.400A>T (p.Thr134Ser) c.373A>T (p.Thr125Ser) | |
1 | g.7984945del | CA2574198760 | PARK7 | c.461del (p.Thr154LysfsTer19) c.401del (p.Thr134LysfsTer19) c.374del (p.Thr125LysfsTer19) | |
1 | g.7984945C>A | CA338167101 | PARK7 | c.461C>A (p.Thr154Lys) c.401C>A (p.Thr134Lys) c.374C>A (p.Thr125Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7984945C= | CA1152147465 | PARK7 | c.461C= (p.Thr154=) c.401C= (p.Thr134=) c.374C= (p.Thr125=) | |
1 | g.7984945C>G | CA338167102 | PARK7 | c.461C>G (p.Thr154Arg) c.401C>G (p.Thr134Arg) c.374C>G (p.Thr125Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984945C>T | CA338167103 | PARK7 | c.461C>T (p.Thr154Ile) c.401C>T (p.Thr134Ile) c.374C>T (p.Thr125Ile) | gnomAD v4 |
1 | g.7984946A>C | CA415839063 | PARK7 | c.462A>C (p.Thr154=) c.402A>C (p.Thr134=) c.375A>C (p.Thr125=) | |
1 | g.7984946A>G | CA415839064 | PARK7 | c.462A>G (p.Thr154=) c.402A>G (p.Thr134=) c.375A>G (p.Thr125=) | |
1 | g.7984946A>T | CA415839066 | PARK7 | c.462A>T (p.Thr154=) c.402A>T (p.Thr134=) c.375A>T (p.Thr125=) | |
1 | g.7984947A>C | CA338167105 | PARK7 | c.463A>C (p.Ser155Arg) c.403A>C (p.Ser135Arg) c.376A>C (p.Ser126Arg) | |
1 | g.7984947A>G | CA338167106 | PARK7 | c.463A>G (p.Ser155Gly) c.403A>G (p.Ser135Gly) c.376A>G (p.Ser126Gly) | gnomAD v4 |
1 | g.7984947A>T | CA338167104 | PARK7 | c.463A>T (p.Ser155Cys) c.403A>T (p.Ser135Cys) c.376A>T (p.Ser126Cys) | gnomAD v4 |
1 | g.7984948G>A | CA338167109 | PARK7 | c.464G>A (p.Ser155Asn) c.404G>A (p.Ser135Asn) c.377G>A (p.Ser126Asn) | |
1 | g.7984948G>C | CA338167107 | PARK7 | c.464G>C (p.Ser155Thr) c.404G>C (p.Ser135Thr) c.377G>C (p.Ser126Thr) | |
1 | g.7984948G>T | CA338167108 | PARK7 | c.464G>T (p.Ser155Ile) c.404G>T (p.Ser135Ile) c.377G>T (p.Ser126Ile) | |
1 | g.7984949C>A | CA338167110 | PARK7 | c.465C>A (p.Ser155Arg) c.405C>A (p.Ser135Arg) c.378C>A (p.Ser126Arg) | |
1 | g.7984949C>G | CA338167111 | PARK7 | c.465C>G (p.Ser155Arg) c.405C>G (p.Ser135Arg) c.378C>G (p.Ser126Arg) | |
1 | g.7984949C>T | CA415839071 | PARK7 | c.465C>T (p.Ser155=) c.405C>T (p.Ser135=) c.378C>T (p.Ser126=) | |
1 | g.7984950C>A | CA415839073 | PARK7 | c.466C>A (p.Arg156=) c.406C>A (p.Arg136=) c.379C>A (p.Arg127=) | |
1 | g.7984950C= | CA1140731567 | PARK7 | c.466C= (p.Arg156=) c.406C= (p.Arg136=) c.379C= (p.Arg127=) | |
1 | g.7984950C>G | CA338167112 | PARK7 | c.466C>G (p.Arg156Gly) c.406C>G (p.Arg136Gly) c.379C>G (p.Arg127Gly) | gnomAD v4 COSMIC |
1 | g.7984950C>T | CA569628 | PARK7 | c.466C>T (p.Arg156Trp) c.406C>T (p.Arg136Trp) c.379C>T (p.Arg127Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984951G>A | CA569629 | PARK7 | c.467G>A (p.Arg156Gln) c.407G>A (p.Arg136Gln) c.380G>A (p.Arg127Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7984951G>C | CA338167113 | PARK7 | c.467G>C (p.Arg156Pro) c.407G>C (p.Arg136Pro) c.380G>C (p.Arg127Pro) | gnomAD v4 |
1 | g.7984951G= | CA1152147471 | PARK7 | c.467G= (p.Arg156=) c.407G= (p.Arg136=) c.380G= (p.Arg127=) | |
1 | g.7984951G>T | CA338167114 | PARK7 | c.467G>T (p.Arg156Leu) c.407G>T (p.Arg136Leu) c.380G>T (p.Arg127Leu) | |
1 | g.7984955dup | CA2574198761 | PARK7 | c.471dup (p.Pro158AlafsTer13) c.411dup (p.Pro138AlafsTer13) c.384dup (p.Pro129AlafsTer13) | |
1 | g.7984952G>A | CA415839079 | PARK7 | c.468G>A (p.Arg156=) c.408G>A (p.Arg136=) c.381G>A (p.Arg127=) | |
1 | g.7984952G>C | CA415839078 | PARK7 | c.468G>C (p.Arg156=) c.408G>C (p.Arg136=) c.381G>C (p.Arg127=) | |
1 | g.7984952G>T | CA415839077 | PARK7 | c.468G>T (p.Arg156=) c.408G>T (p.Arg136=) c.381G>T (p.Arg127=) | gnomAD v4 |
1 | g.7984953G>A | CA338167115 | PARK7 | c.469G>A (p.Gly157Arg) c.409G>A (p.Gly137Arg) c.382G>A (p.Gly128Arg) | |
1 | g.7984953G>C | CA338167116 | PARK7 | c.469G>C (p.Gly157Arg) c.409G>C (p.Gly137Arg) c.382G>C (p.Gly128Arg) | dbSNP |
1 | g.7984953G= | CA1152147478 | PARK7 | c.469G= (p.Gly157=) c.409G= (p.Gly137=) c.382G= (p.Gly128=) | |
1 | g.7984953G>T | CA338167117 | PARK7 | c.469G>T (p.Gly157Trp) c.409G>T (p.Gly137Trp) c.382G>T (p.Gly128Trp) | gnomAD v4 |
1 | g.7984954G>A | CA338167120 | PARK7 | c.470G>A (p.Gly157Glu) c.410G>A (p.Gly137Glu) c.383G>A (p.Gly128Glu) | gnomAD v4 |
1 | g.7984954G>C | CA338167118 | PARK7 | c.470G>C (p.Gly157Ala) c.410G>C (p.Gly137Ala) c.383G>C (p.Gly128Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984954G= | CA1152147486 | PARK7 | c.470G= (p.Gly157=) c.410G= (p.Gly137=) c.383G= (p.Gly128=) | |
1 | g.7984954G>T | CA338167119 | PARK7 | c.470G>T (p.Gly157Val) c.410G>T (p.Gly137Val) c.383G>T (p.Gly128Val) | |
1 | g.7984954_7984957delinsGGCC | CA1152147485 | PARK7 | c.470_473delinsGGCC (p.Gly157=) c.410_413delinsGGCC (p.Gly137=) c.383_386delinsGGCC (p.Gly128=) | |
1 | g.7984955G>A | CA415839089 | PARK7 | c.471G>A (p.Gly157=) c.411G>A (p.Gly137=) c.384G>A (p.Gly128=) | |
1 | g.7984955G>C | CA415839086 | PARK7 | c.471G>C (p.Gly157=) c.411G>C (p.Gly137=) c.384G>C (p.Gly128=) | |
1 | g.7984955G>T | CA415839088 | PARK7 | c.471G>T (p.Gly157=) c.411G>T (p.Gly137=) c.384G>T (p.Gly128=) | |
1 | g.7984955_7984957del | CA569630 | PARK7 | c.471_473del (p.Pro158del) c.411_413del (p.Pro138del) c.384_386del (p.Pro129del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984956C>A | CA338167121 | PARK7 | c.472C>A (p.Pro158Thr) c.412C>A (p.Pro138Thr) c.385C>A (p.Pro129Thr) | |
1 | g.7984956C= | CA1152147497 | PARK7 | c.472C= (p.Pro158=) c.412C= (p.Pro138=) c.385C= (p.Pro129=) | |
1 | g.7984956C>G | CA338167122 | PARK7 | c.472C>G (p.Pro158Ala) c.412C>G (p.Pro138Ala) c.385C>G (p.Pro129Ala) | |
1 | g.7984956C>T | CA338167123 | PARK7 | c.472C>T (p.Pro158Ser) c.412C>T (p.Pro138Ser) c.385C>T (p.Pro129Ser) | dbSNP |
1 | g.7984956_7984958del | CA338167124 | PARK7 | c.472_474del (p.Pro158del) c.412_414del (p.Pro138del) c.385_387del (p.Pro129del) | |
1 | g.7984957C>A | CA338167125 | PARK7 | c.473C>A (p.Pro158His) c.413C>A (p.Pro138His) c.386C>A (p.Pro129His) | |
1 | g.7984957C>G | CA338167126 | PARK7 | c.473C>G (p.Pro158Arg) c.413C>G (p.Pro138Arg) c.386C>G (p.Pro129Arg) | |
1 | g.7984957C>T | CA338167127 | PARK7 | c.473C>T (p.Pro158Leu) c.413C>T (p.Pro138Leu) c.386C>T (p.Pro129Leu) | |
1 | g.7984958T>A | CA415839093 | PARK7 | c.474T>A (p.Pro158=) c.414T>A (p.Pro138=) c.387T>A (p.Pro129=) | |
1 | g.7984958T>C | CA569631 | PARK7 | c.474T>C (p.Pro158=) c.414T>C (p.Pro138=) c.387T>C (p.Pro129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7984958T>G | CA415839094 | PARK7 | c.474T>G (p.Pro158=) c.414T>G (p.Pro138=) c.387T>G (p.Pro129=) | |
1 | g.7984958T= | CA1152147502 | PARK7 | c.474T= (p.Pro158=) c.414T= (p.Pro138=) c.387T= (p.Pro129=) | |
1 | g.7984959G>A | CA338167128 | PARK7 | c.475G>A (p.Gly159Arg) c.415G>A (p.Gly139Arg) c.388G>A (p.Gly130Arg) | |
1 | g.7984959G>C | CA338167129 | PARK7 | c.475G>C (p.Gly159Arg) c.415G>C (p.Gly139Arg) c.388G>C (p.Gly130Arg) | |
1 | g.7984959G>T | CA338167130 | PARK7 | c.475G>T (p.Gly159Trp) c.415G>T (p.Gly139Trp) c.388G>T (p.Gly130Trp) | |
1 | g.7984960G>A | CA338167132 | PARK7 | c.476G>A (p.Gly159Glu) c.416G>A (p.Gly139Glu) c.389G>A (p.Gly130Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984960G>C | CA338167133 | PARK7 | c.476G>C (p.Gly159Ala) c.416G>C (p.Gly139Ala) c.389G>C (p.Gly130Ala) | |
1 | g.7984960G= | CA1152147509 | PARK7 | c.476G= (p.Gly159=) c.416G= (p.Gly139=) c.389G= (p.Gly130=) | |
1 | g.7984960G>T | CA338167131 | PARK7 | c.476G>T (p.Gly159Val) c.416G>T (p.Gly139Val) c.389G>T (p.Gly130Val) | |
1 | g.7984961G>A | CA415839099 | PARK7 | c.477G>A (p.Gly159=) c.417G>A (p.Gly139=) c.390G>A (p.Gly130=) | gnomAD v4 |
1 | g.7984961G>C | CA415839100 | PARK7 | c.477G>C (p.Gly159=) c.417G>C (p.Gly139=) c.390G>C (p.Gly130=) | |
1 | g.7984961G>T | CA415839101 | PARK7 | c.477G>T (p.Gly159=) c.417G>T (p.Gly139=) c.390G>T (p.Gly130=) | |
1 | g.7984962A= | CA1152147517 | PARK7 | c.478A= (p.Thr160=) c.418A= (p.Thr140=) c.391A= (p.Thr131=) | |
1 | g.7984962A>C | CA338167134 | PARK7 | c.478A>C (p.Thr160Pro) c.418A>C (p.Thr140Pro) c.391A>C (p.Thr131Pro) | |
1 | g.7984962A>G | CA338167135 | PARK7 | c.478A>G (p.Thr160Ala) c.418A>G (p.Thr140Ala) c.391A>G (p.Thr131Ala) | |
1 | g.7984962A>T | CA17286814 | PARK7 | c.478A>T (p.Thr160Ser) c.418A>T (p.Thr140Ser) c.391A>T (p.Thr131Ser) | dbSNP |
1 | g.7984963C>A | CA338167136 | PARK7 | c.479C>A (p.Thr160Asn) c.419C>A (p.Thr140Asn) c.392C>A (p.Thr131Asn) | |
1 | g.7984963C= | CA1152147520 | PARK7 | c.479C= (p.Thr160=) c.419C= (p.Thr140=) c.392C= (p.Thr131=) | |
1 | g.7984963C>G | CA338167137 | PARK7 | c.479C>G (p.Thr160Ser) c.419C>G (p.Thr140Ser) c.392C>G (p.Thr131Ser) | dbSNP gnomAD v4 |
1 | g.7984963C>T | CA338167138 | PARK7 | c.479C>T (p.Thr160Ile) c.419C>T (p.Thr140Ile) c.392C>T (p.Thr131Ile) |