| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |