Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7984831delCA2643056854PARK7c.410-63del (n.410-63del)
c.350-63del (n.350-63del)
c.293-33del (n.293-33del)
gnomAD v4
1g.7984832G>CCA739208240PARK7c.410-62G>C (n.410-62G>C)
c.350-62G>C (n.350-62G>C)
c.293-32G>C (n.293-32G>C)
dbSNP
1g.7984832G=CA1152147260PARK7c.410-62G= (n.410-62G=)
c.350-62G= (n.350-62G=)
c.293-32G= (n.293-32G=)
1g.7984832_7984836delinsGTAATCA1152147261PARK7c.410-62_410-58delinsGTAAT (n.410-62_410-58delinsGTAAT)
c.350-62_350-58delinsGTAAT (n.350-62_350-58delinsGTAAT)
c.293-32_293-28delinsGTAAT (n.293-32_293-28delinsGTAAT)
1g.7984833_7984836delCA739208244PARK7c.410-61_410-58del (n.410-61_410-58del)
c.350-61_350-58del (n.350-61_350-58del)
c.293-31_293-28del (n.293-31_293-28del)
dbSNP gnomAD v3 gnomAD v4
1g.7984834A=CA1152147263PARK7c.410-60A= (n.410-60A=)
c.350-60A= (n.350-60A=)
c.293-30A= (n.293-30A=)
1g.7984834A>GCA17286808PARK7c.410-60A>G (n.410-60A>G)
c.350-60A>G (n.350-60A>G)
c.293-30A>G (n.293-30A>G)
dbSNP
1g.7984835delCA2643056855PARK7c.410-59del (n.410-59del)
c.350-59del (n.350-59del)
c.293-29del (n.293-29del)
gnomAD v4
1g.7984835A>GCA2643056856PARK7c.410-59A>G (n.410-59A>G)
c.350-59A>G (n.350-59A>G)
c.293-29A>G (n.293-29A>G)
gnomAD v4
1g.7984836T>CCA2643056857PARK7c.410-58T>C (n.410-58T>C)
c.350-58T>C (n.350-58T>C)
c.293-28T>C (n.293-28T>C)
gnomAD v4
1g.7984836T>GCA2742365512PARK7c.410-58T>G (n.410-58T>G)
c.350-58T>G (n.350-58T>G)
c.293-28T>G (n.293-28T>G)
1g.7984837C>ACA2742365513PARK7c.410-57C>A (n.410-57C>A)
c.350-57C>A (n.350-57C>A)
c.293-27C>A (n.293-27C>A)
1g.7984837C=CA1152147265PARK7c.410-57C= (n.410-57C=)
c.350-57C= (n.350-57C=)
c.293-27C= (n.293-27C=)
1g.7984837C>TCA569605PARK7c.410-57C>T (n.410-57C>T)
c.350-57C>T (n.350-57C>T)
c.293-27C>T (n.293-27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984838G>ACA569606PARK7c.410-56G>A (n.410-56G>A)
c.350-56G>A (n.350-56G>A)
c.293-26G>A (n.293-26G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984838G=CA1152147271PARK7c.410-56G= (n.410-56G=)
c.350-56G= (n.350-56G=)
c.293-26G= (n.293-26G=)
1g.7984839T>CCA521019986PARK7c.410-55T>C (n.410-55T>C)
c.350-55T>C (n.350-55T>C)
c.293-25T>C (n.293-25T>C)
dbSNP gnomAD v2 gnomAD v4
1g.7984839T=CA1152147272PARK7c.410-55T= (n.410-55T=)
c.350-55T= (n.350-55T=)
c.293-25T= (n.293-25T=)
1g.7984840C=CA1152147273PARK7c.410-54C= (n.410-54C=)
c.350-54C= (n.350-54C=)
c.293-24C= (n.293-24C=)
1g.7984840C>GCA569607PARK7c.410-54C>G (n.410-54C>G)
c.350-54C>G (n.350-54C>G)
c.293-24C>G (n.293-24C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984840C>TCA1152147274PARK7c.410-54C>T (n.410-54C>T)
c.350-54C>T (n.350-54C>T)
c.293-24C>T (n.293-24C>T)
dbSNP gnomAD v4
1g.7984842_7984843delCA2643056858PARK7c.410-52_410-51del (n.410-52_410-51del)
c.350-52_350-51del (n.350-52_350-51del)
c.293-22_293-21del (n.293-22_293-21del)
gnomAD v4
1g.7984842T>CCA17286809PARK7c.410-52T>C (n.410-52T>C)
c.350-52T>C (n.350-52T>C)
c.293-22T>C (n.293-22T>C)
dbSNP
1g.7984842T=CA1152147277PARK7c.410-52T= (n.410-52T=)
c.350-52T= (n.350-52T=)
c.293-22T= (n.293-22T=)
1g.7984842_7984846delinsTTCTCCA1152147276PARK7c.410-52_410-48delinsTTCTC (n.410-52_410-48delinsTTCTC)
c.350-52_350-48delinsTTCTC (n.350-52_350-48delinsTTCTC)
c.293-22_293-18delinsTTCTC (n.293-22_293-18delinsTTCTC)
1g.7984843_7984846delCA569608PARK7c.410-51_410-48del (n.410-51_410-48del)
c.350-51_350-48del (n.350-51_350-48del)
c.293-21_293-18del (n.293-21_293-18del)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984843_7984846delinsTCTCCA1144276561PARK7c.410-51_410-48delinsTCTC (n.410-51_410-48delinsTCTC)
c.350-51_350-48delinsTCTC (n.350-51_350-48delinsTCTC)
c.293-21_293-18delinsTCTC (n.293-21_293-18delinsTCTC)
1g.7984845T>CCA569609PARK7c.410-49T>C (n.410-49T>C)
c.350-49T>C (n.350-49T>C)
c.293-19T>C (n.293-19T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984845T=CA1139922304PARK7c.410-49T= (n.410-49T=)
c.350-49T= (n.350-49T=)
c.293-19T= (n.293-19T=)
1g.7984846C>ACA2643056859PARK7c.410-48C>A (n.410-48C>A)
c.350-48C>A (n.350-48C>A)
c.293-18C>A (n.293-18C>A)
gnomAD v4
1g.7984846C=CA1145685746PARK7c.410-48C= (n.410-48C=)
c.350-48C= (n.350-48C=)
c.293-18C= (n.293-18C=)
1g.7984846C>TCA569610PARK7c.410-48C>T (n.410-48C>T)
c.350-48C>T (n.350-48C>T)
c.293-18C>T (n.293-18C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984847G>ACA569611PARK7c.410-47G>A (n.410-47G>A)
c.350-47G>A (n.350-47G>A)
c.293-17G>A (n.293-17G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984847G>CCA2643056860PARK7c.410-47G>C (n.410-47G>C)
c.350-47G>C (n.350-47G>C)
c.293-17G>C (n.293-17G>C)
gnomAD v4
1g.7984847G=CA1147342332PARK7c.410-47G= (n.410-47G=)
c.350-47G= (n.350-47G=)
c.293-17G= (n.293-17G=)
1g.7984848T>CCA2643056861PARK7c.410-46T>C (n.410-46T>C)
c.350-46T>C (n.350-46T>C)
c.293-16T>C (n.293-16T>C)
gnomAD v4
1g.7984849C>ACA2643056862PARK7c.410-45C>A (n.410-45C>A)
c.350-45C>A (n.350-45C>A)
c.293-15C>A (n.293-15C>A)
gnomAD v4
1g.7984849C>TCA2643056863PARK7c.410-45C>T (n.410-45C>T)
c.350-45C>T (n.350-45C>T)
c.293-15C>T (n.293-15C>T)
gnomAD v4
1g.7984852A>GCA2574198745PARK7c.410-42A>G (n.410-42A>G)
c.350-42A>G (n.350-42A>G)
c.293-12A>G (n.293-12A>G)
1g.7984853T>CCA2643056864PARK7c.410-41T>C (n.410-41T>C)
c.350-41T>C (n.350-41T>C)
c.293-11T>C (n.293-11T>C)
gnomAD v4
1g.7984855G>ACA2643056865PARK7c.410-39G>A (n.410-39G>A)
c.350-39G>A (n.350-39G>A)
c.293-9G>A (n.293-9G>A)
gnomAD v4
1g.7984855G>TCA2643056866PARK7c.410-39G>T (n.410-39G>T)
c.350-39G>T (n.350-39G>T)
c.293-9G>T (n.293-9G>T)
gnomAD v4
1g.7984856C=CA1152147284PARK7c.410-38C= (n.410-38C=)
c.350-38C= (n.350-38C=)
c.293-8C= (n.293-8C=)
1g.7984856C>TCA569612PARK7c.410-38C>T (n.410-38C>T)
c.350-38C>T (n.350-38C>T)
c.293-8C>T (n.293-8C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984857C>GCA2643056867PARK7c.410-37C>G (n.410-37C>G)
c.350-37C>G (n.350-37C>G)
c.293-7C>G (n.293-7C>G)
gnomAD v4
1g.7984858C>ACA2643056868PARK7c.410-36C>A (n.410-36C>A)
c.350-36C>A (n.350-36C>A)
c.293-6C>A (n.293-6C>A)
gnomAD v4
1g.7984858C>TCA2643056869PARK7c.410-36C>T (n.410-36C>T)
c.350-36C>T (n.350-36C>T)
c.293-6C>T (n.293-6C>T)
gnomAD v4
1g.7984859A>GCA2574198747PARK7c.410-35A>G (n.410-35A>G)
c.350-35A>G (n.350-35A>G)
c.293-5A>G (n.293-5A>G)
1g.7984860T=CA1152147288PARK7c.410-34T= (n.410-34T=)
c.350-34T= (n.350-34T=)
c.293-4T= (n.293-4T=)
1g.7984861T>CCA521019987PARK7c.410-33T>C (n.410-33T>C)
c.350-33T>C (n.350-33T>C)
c.293-3T>C (n.293-3T>C)
dbSNP gnomAD v2 gnomAD v4
1g.7984861T>GCA415838948PARK7c.410-33T>G (n.410-33T>G)
c.350-33T>G (n.350-33T>G)
c.293-3T>G (n.293-3T>G)
dbSNP
1g.7984861T=CA1152147292PARK7c.410-33T= (n.410-33T=)
c.350-33T= (n.350-33T=)
c.293-3T= (n.293-3T=)
1g.7984861_7984864dupCA569613PARK7c.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
1g.7984862A>CCA338166914PARK7c.410-32A>C (n.410-32A>C)
c.350-32A>C (n.350-32A>C)
c.293-2A>C (n.293-2A>C)
1g.7984862A>GCA338166915PARK7c.410-32A>G (n.410-32A>G)
c.350-32A>G (n.350-32A>G)
c.293-2A>G (n.293-2A>G)
1g.7984862A>TCA338166916PARK7c.410-32A>T (n.410-32A>T)
c.350-32A>T (n.350-32A>T)
c.293-2A>T (n.293-2A>T)
1g.7984863G>ACA338166918PARK7c.410-31G>A (n.410-31G>A)
c.350-31G>A (n.350-31G>A)
c.293-1G>A (n.293-1G>A)
1g.7984863G>CCA569614PARK7c.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
1g.7984863G=CA1152147295PARK7c.410-31G= (n.410-31G=)
c.350-31G= (n.350-31G=)
c.293-1G= (n.293-1G=)
1g.7984863G>TCA338166917PARK7c.410-31G>T (n.410-31G>T)
c.350-31G>T (n.350-31G>T)
c.293-1G>T (n.293-1G>T)
1g.7984864G>ACA338166919PARK7c.410-30G>A (n.410-30G>A)
c.350-30G>A (n.350-30G>A)
c.293G>A (p.Gly98Glu)
dbSNP
1g.7984864G>CCA338166920PARK7c.410-30G>C (n.410-30G>C)
c.350-30G>C (n.350-30G>C)
c.293G>C (p.Gly98Ala)
1g.7984864G=CA1152147299PARK7c.410-30G= (n.410-30G=)
c.350-30G= (n.350-30G=)
c.293G= (p.Gly98=)
1g.7984864G>TCA338166921PARK7c.410-30G>T (n.410-30G>T)
c.350-30G>T (n.350-30G>T)
c.293G>T (p.Gly98Val)
1g.7984865A=CA1152147303PARK7c.410-29A= (n.410-29A=)
c.350-29A= (n.350-29A=)
c.294A= (p.Gly98=)
1g.7984865A>GCA569615PARK7c.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
1g.7984865A>TCA2742365514PARK7c.410-29A>T (n.410-29A>T)
c.350-29A>T (n.350-29A>T)
c.294A>T (p.Gly98=)
1g.7984866T>ACA338166922PARK7c.410-28T>A (n.410-28T>A)
c.350-28T>A (n.350-28T>A)
c.295T>A (p.Cys99Ser)
1g.7984866T>CCA338166923PARK7c.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
1g.7984866T>GCA338166924PARK7c.410-28T>G (n.410-28T>G)
c.350-28T>G (n.350-28T>G)
c.295T>G (p.Cys99Gly)
1g.7984866T=CA1152147308PARK7c.410-28T= (n.410-28T=)
c.350-28T= (n.350-28T=)
c.295T= (p.Cys99=)
1g.7984867G>ACA338166925PARK7c.410-27G>A (n.410-27G>A)
c.350-27G>A (n.350-27G>A)
c.296G>A (p.Cys99Tyr)
1g.7984867G>CCA338166926PARK7c.410-27G>C (n.410-27G>C)
c.350-27G>C (n.350-27G>C)
c.296G>C (p.Cys99Ser)
1g.7984867G>TCA338166927PARK7c.410-27G>T (n.410-27G>T)
c.350-27G>T (n.350-27G>T)
c.296G>T (p.Cys99Phe)
1g.7984868T>ACA338166928PARK7c.410-26T>A (n.410-26T>A)
c.350-26T>A (n.350-26T>A)
c.297T>A (p.Cys99Ter)
1g.7984868T>GCA338166929PARK7c.410-26T>G (n.410-26T>G)
c.350-26T>G (n.350-26T>G)
c.297T>G (p.Cys99Trp)
1g.7984869C>ACA338166931PARK7c.410-25C>A (n.410-25C>A)
c.350-25C>A (n.350-25C>A)
c.298C>A (p.His100Asn)
gnomAD v4
1g.7984869C=CA1152147314PARK7c.410-25C= (n.410-25C=)
c.350-25C= (n.350-25C=)
c.298C= (p.His100=)
1g.7984869C>GCA338166932PARK7c.410-25C>G (n.410-25C>G)
c.350-25C>G (n.350-25C>G)
c.298C>G (p.His100Asp)
1g.7984869C>TCA338166930PARK7c.410-25C>T (n.410-25C>T)
c.350-25C>T (n.350-25C>T)
c.298C>T (p.His100Tyr)
dbSNP
1g.7984870A>CCA338166934PARK7c.410-24A>C (n.410-24A>C)
c.350-24A>C (n.350-24A>C)
c.299A>C (p.His100Pro)
1g.7984870A>GCA338166933PARK7c.410-24A>G (n.410-24A>G)
c.350-24A>G (n.350-24A>G)
c.299A>G (p.His100Arg)
gnomAD v4
1g.7984870A>TCA338166935PARK7c.410-24A>T (n.410-24A>T)
c.350-24A>T (n.350-24A>T)
c.299A>T (p.His100Leu)
gnomAD v4
1g.7984871C>ACA338166936PARK7c.410-23C>A (n.410-23C>A)
c.350-23C>A (n.350-23C>A)
c.300C>A (p.His100Gln)
1g.7984871C=CA1152147322PARK7c.410-23C= (n.410-23C=)
c.350-23C= (n.350-23C=)
c.300C= (p.His100=)
1g.7984871C>GCA338166937PARK7c.410-23C>G (n.410-23C>G)
c.350-23C>G (n.350-23C>G)
c.300C>G (p.His100Gln)
1g.7984871C>TCA1152147324PARK7c.410-23C>T (n.410-23C>T)
c.350-23C>T (n.350-23C>T)
c.300C>T (p.His100=)
dbSNP
1g.7984872C>ACA338166938PARK7c.410-22C>A (n.410-22C>A)
c.350-22C>A (n.350-22C>A)
c.301C>A (p.Leu101Ile)
1g.7984872C>GCA338166939PARK7c.410-22C>G (n.410-22C>G)
c.350-22C>G (n.350-22C>G)
c.301C>G (p.Leu101Val)
1g.7984872C>TCA338166940PARK7c.410-22C>T (n.410-22C>T)
c.350-22C>T (n.350-22C>T)
c.301C>T (p.Leu101Phe)
1g.7984873T>ACA338166941PARK7c.410-21T>A (n.410-21T>A)
c.350-21T>A (n.350-21T>A)
c.302T>A (p.Leu101His)
1g.7984873T>CCA338166942PARK7c.410-21T>C (n.410-21T>C)
c.350-21T>C (n.350-21T>C)
c.302T>C (p.Leu101Pro)
1g.7984873T>GCA338166943PARK7c.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
1g.7984873T=CA1152147330PARK7c.410-21T= (n.410-21T=)
c.350-21T= (n.350-21T=)
c.302T= (p.Leu101=)
1g.7984879_7984884delCA2643056870PARK7c.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
1g.7984875T>ACA338166944PARK7c.410-19T>A (n.410-19T>A)
c.350-19T>A (n.350-19T>A)
c.304T>A (p.Phe102Ile)
1g.7984875T>CCA338166945PARK7c.410-19T>C (n.410-19T>C)
c.350-19T>C (n.350-19T>C)
c.304T>C (p.Phe102Leu)
gnomAD v4
1g.7984875T>GCA338166946PARK7c.410-19T>G (n.410-19T>G)
c.350-19T>G (n.350-19T>G)
c.304T>G (p.Phe102Val)
1g.7984876T>ACA338166948PARK7c.410-18T>A (n.410-18T>A)
c.350-18T>A (n.350-18T>A)
c.305T>A (p.Phe102Tyr)
1g.7984876T>CCA569616PARK7c.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
1g.7984876T>GCA338166947PARK7c.410-18T>G (n.410-18T>G)
c.350-18T>G (n.350-18T>G)
c.305T>G (p.Phe102Cys)
1g.7984876T=CA1152147333PARK7c.410-18T= (n.410-18T=)
c.350-18T= (n.350-18T=)
c.305T= (p.Phe102=)
1g.7984877C>ACA338166949PARK7c.410-17C>A (n.410-17C>A)
c.350-17C>A (n.350-17C>A)
c.306C>A (p.Phe102Leu)
1g.7984877C>GCA338166950PARK7c.410-17C>G (n.410-17C>G)
c.350-17C>G (n.350-17C>G)
c.306C>G (p.Phe102Leu)
1g.7984878T>ACA338166951PARK7c.410-16T>A (n.410-16T>A)
c.350-16T>A (n.350-16T>A)
c.307T>A (p.Cys103Ser)
1g.7984878T>CCA338166952PARK7c.410-16T>C (n.410-16T>C)
c.350-16T>C (n.350-16T>C)
c.307T>C (p.Cys103Arg)
1g.7984878T>GCA338166953PARK7c.410-16T>G (n.410-16T>G)
c.350-16T>G (n.350-16T>G)
c.307T>G (p.Cys103Gly)
1g.7984879G>ACA338166954PARK7c.410-15G>A (n.410-15G>A)
c.350-15G>A (n.350-15G>A)
c.308G>A (p.Cys103Tyr)
1g.7984879G>CCA338166955PARK7c.410-15G>C (n.410-15G>C)
c.350-15G>C (n.350-15G>C)
c.308G>C (p.Cys103Ser)
1g.7984879G=CA1152147334PARK7c.410-15G= (n.410-15G=)
c.350-15G= (n.350-15G=)
c.308G= (p.Cys103=)
1g.7984879G>TCA338166956PARK7c.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
1g.7984880T>ACA338166957PARK7c.410-14T>A (n.410-14T>A)
c.350-14T>A (n.350-14T>A)
c.309T>A (p.Cys103Ter)
1g.7984880T>GCA338166958PARK7c.410-14T>G (n.410-14T>G)
c.350-14T>G (n.350-14T>G)
c.309T>G (p.Cys103Trp)
1g.7984881T>ACA338166959PARK7c.410-13T>A (n.410-13T>A)
c.350-13T>A (n.350-13T>A)
c.310T>A (p.Phe104Ile)
1g.7984881T>CCA338166960PARK7c.410-13T>C (n.410-13T>C)
c.350-13T>C (n.350-13T>C)
c.310T>C (p.Phe104Leu)
1g.7984881T>GCA338166961PARK7c.410-13T>G (n.410-13T>G)
c.350-13T>G (n.350-13T>G)
c.310T>G (p.Phe104Val)
1g.7984882T>ACA338166964PARK7c.410-12T>A (n.410-12T>A)
c.350-12T>A (n.350-12T>A)
c.311T>A (p.Phe104Tyr)
1g.7984882T>CCA338166963PARK7c.410-12T>C (n.410-12T>C)
c.350-12T>C (n.350-12T>C)
c.311T>C (p.Phe104Ser)
1g.7984882T>GCA338166962PARK7c.410-12T>G (n.410-12T>G)
c.350-12T>G (n.350-12T>G)
c.311T>G (p.Phe104Cys)
dbSNP
1g.7984882T=CA1152147337PARK7c.410-12T= (n.410-12T=)
c.350-12T= (n.350-12T=)
c.311T= (p.Phe104=)
1g.7984883C>ACA338166966PARK7c.410-11C>A (n.410-11C>A)
c.350-11C>A (n.350-11C>A)
c.312C>A (p.Phe104Leu)
1g.7984883C>GCA338166965PARK7c.410-11C>G (n.410-11C>G)
c.350-11C>G (n.350-11C>G)
c.312C>G (p.Phe104Leu)
1g.7984884T>ACA338166967PARK7c.410-10T>A (n.410-10T>A)
c.350-10T>A (n.350-10T>A)
c.313T>A (p.Tyr105Asn)
1g.7984884T>CCA17286810PARK7c.410-10T>C (n.410-10T>C)
c.350-10T>C (n.350-10T>C)
c.313T>C (p.Tyr105His)
dbSNP gnomAD v4
1g.7984884T>GCA338166968PARK7c.410-10T>G (n.410-10T>G)
c.350-10T>G (n.350-10T>G)
c.313T>G (p.Tyr105Asp)
1g.7984884T=CA1152147340PARK7c.410-10T= (n.410-10T=)
c.350-10T= (n.350-10T=)
c.313T= (p.Tyr105=)
1g.7984885A=CA1141960700PARK7c.410-9A= (n.410-9A=)
c.350-9A= (n.350-9A=)
c.314A= (p.Tyr105=)
1g.7984885A>CCA338166969PARK7c.410-9A>C (n.410-9A>C)
c.350-9A>C (n.350-9A>C)
c.314A>C (p.Tyr105Ser)
1g.7984885A>GCA569617PARK7c.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
1g.7984885A>TCA338166970PARK7c.410-9A>T (n.410-9A>T)
c.350-9A>T (n.350-9A>T)
c.314A>T (p.Tyr105Phe)
1g.7984886C>ACA338166971PARK7c.410-8C>A (n.410-8C>A)
c.350-8C>A (n.350-8C>A)
c.315C>A (p.Tyr105Ter)
1g.7984886C>GCA338166972PARK7c.410-8C>G (n.410-8C>G)
c.350-8C>G (n.350-8C>G)
c.315C>G (p.Tyr105Ter)
1g.7984886C>TCA2643056871PARK7c.410-8C>T (n.410-8C>T)
c.350-8C>T (n.350-8C>T)
c.315C>T (p.Tyr105=)
gnomAD v4
1g.7984887T>ACA338166973PARK7c.410-7T>A (n.410-7T>A)
c.350-7T>A (n.350-7T>A)
c.316T>A (p.Phe106Ile)
1g.7984887T>CCA338166974PARK7c.410-7T>C (n.410-7T>C)
c.350-7T>C (n.350-7T>C)
c.316T>C (p.Phe106Leu)
1g.7984887T>GCA338166975PARK7c.410-7T>G (n.410-7T>G)
c.350-7T>G (n.350-7T>G)
c.316T>G (p.Phe106Val)
1g.7984888T>ACA338166977PARK7c.410-6T>A (n.410-6T>A)
c.350-6T>A (n.350-6T>A)
c.317T>A (p.Phe106Tyr)
1g.7984888T>CCA338166978PARK7c.410-6T>C (n.410-6T>C)
c.350-6T>C (n.350-6T>C)
c.317T>C (p.Phe106Ser)
1g.7984888T>GCA338166976PARK7c.410-6T>G (n.410-6T>G)
c.350-6T>G (n.350-6T>G)
c.317T>G (p.Phe106Cys)
1g.7984889T>ACA338166979PARK7c.410-5T>A (n.410-5T>A)
c.350-5T>A (n.350-5T>A)
c.318T>A (p.Phe106Leu)
1g.7984889T>GCA338166980PARK7c.410-5T>G (n.410-5T>G)
c.350-5T>G (n.350-5T>G)
c.318T>G (p.Phe106Leu)
1g.7984890G>ACA338166981PARK7c.410-4G>A (n.410-4G>A)
c.350-4G>A (n.350-4G>A)
c.319G>A (p.Ala107Thr)
1g.7984890G>CCA338166982PARK7c.410-4G>C (n.410-4G>C)
c.350-4G>C (n.350-4G>C)
c.319G>C (p.Ala107Pro)
1g.7984890G=CA1152147351PARK7c.410-4G= (n.410-4G=)
c.350-4G= (n.350-4G=)
c.319G= (p.Ala107=)
1g.7984890G>TCA338166983PARK7c.410-4G>T (n.410-4G>T)
c.350-4G>T (n.350-4G>T)
c.319G>T (p.Ala107Ser)
dbSNP
1g.7984891C>ACA338166986PARK7c.410-3C>A (n.410-3C>A)
c.350-3C>A (n.350-3C>A)
c.320C>A (p.Ala107Glu)
1g.7984891C>GCA338166984PARK7c.410-3C>G (n.410-3C>G)
c.350-3C>G (n.350-3C>G)
c.320C>G (p.Ala107Gly)
1g.7984891C>TCA338166985PARK7c.410-3C>T (n.410-3C>T)
c.350-3C>T (n.350-3C>T)
c.320C>T (p.Ala107Val)
1g.7984892A>CCA338166987PARK7c.410-2A>C (n.410-2A>C)
c.350-2A>C (n.350-2A>C)
c.321A>C (p.Ala107=)
1g.7984892A>GCA338166988PARK7c.410-2A>G (n.410-2A>G)
c.350-2A>G (n.350-2A>G)
c.321A>G (p.Ala107=)
1g.7984892A>TCA338166989PARK7c.410-2A>T (n.410-2A>T)
c.350-2A>T (n.350-2A>T)
c.321A>T (p.Ala107=)
1g.7984892_7984893delinsAGCA1152147354PARK7c.410-2_410-1delinsAG (n.410-2_410-1delinsAG)
c.350-2_350-1delinsAG (n.350-2_350-1delinsAG)
c.321_322delinsAG (p.Ala107=)
1g.7984893G>ACA338166990PARK7c.410-1G>A (n.410-1G>A)
c.350-1G>A (n.350-1G>A)
c.322G>A (p.Gly108Ser)
1g.7984893G>CCA338166991PARK7c.410-1G>C (n.410-1G>C)
c.350-1G>C (n.350-1G>C)
c.322G>C (p.Gly108Arg)
1g.7984893G>TCA338166992PARK7c.410-1G>T (n.410-1G>T)
c.350-1G>T (n.350-1G>T)
c.322G>T (p.Gly108Cys)
1g.7984894delCA739208332PARK7c.410del
c.350del
c.323del (p.Gly108ValfsTer15)
dbSNP gnomAD v3 gnomAD v4
1g.7984894G>ACA338166994PARK7c.410G>A (p.Gly137Asp)
c.350G>A (p.Gly117Asp)
c.323G>A (p.Gly108Asp)
gnomAD v4
1g.7984894G>CCA338166995PARK7c.410G>C (p.Gly137Ala)
c.350G>C (p.Gly117Ala)
c.323G>C (p.Gly108Ala)
1g.7984894G>TCA338166993PARK7c.410G>T (p.Gly137Val)
c.350G>T (p.Gly117Val)
c.323G>T (p.Gly108Val)
1g.7984895T>ACA415838982PARK7c.411T>A (p.Gly137=)
c.351T>A (p.Gly117=)
c.324T>A (p.Gly108=)
1g.7984895T>CCA415838984PARK7c.411T>C (p.Gly137=)
c.351T>C (p.Gly117=)
c.324T>C (p.Gly108=)
1g.7984895T>GCA415838986PARK7c.411T>G (p.Gly137=)
c.351T>G (p.Gly117=)
c.324T>G (p.Gly108=)
1g.7984896C>ACA338166996PARK7c.412C>A (p.His138Asn)
c.352C>A (p.His118Asn)
c.325C>A (p.His109Asn)
dbSNP
1g.7984896C=CA1152147360PARK7c.412C= (p.His138=)
c.352C= (p.His118=)
c.325C= (p.His109=)
1g.7984896C>GCA338166997PARK7c.412C>G (p.His138Asp)
c.352C>G (p.His118Asp)
c.325C>G (p.His109Asp)
gnomAD v4
1g.7984896C>TCA338166998PARK7c.412C>T (p.His138Tyr)
c.352C>T (p.His118Tyr)
c.325C>T (p.His109Tyr)
gnomAD v4
1g.7984896dupCA2643056872PARK7c.412dup (p.His138ProfsTer6)
c.352dup (p.His118ProfsTer6)
c.325dup (p.His109ProfsTer6)
gnomAD v4
1g.7984897A=CA1152147363PARK7c.413A= (p.His138=)
c.353A= (p.His118=)
c.326A= (p.His109=)
1g.7984897A>CCA338166999PARK7c.413A>C (p.His138Pro)
c.353A>C (p.His118Pro)
c.326A>C (p.His109Pro)
1g.7984897A>GCA569618PARK7c.413A>G (p.His138Arg)
c.353A>G (p.His118Arg)
c.326A>G (p.His109Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984897A>TCA338167000PARK7c.413A>T (p.His138Leu)
c.353A>T (p.His118Leu)
c.326A>T (p.His109Leu)
1g.7984897_7984898delCA2643056873PARK7c.413_414del (p.His138LeufsTer5)
c.353_354del (p.His118LeufsTer5)
c.326_327del (p.His109LeufsTer5)
gnomAD v4
1g.7984898T>ACA338167001PARK7c.414T>A (p.His138Gln)
c.354T>A (p.His118Gln)
c.327T>A (p.His109Gln)
1g.7984898T>CCA415838988PARK7c.414T>C (p.His138=)
c.354T>C (p.His118=)
c.327T>C (p.His109=)
1g.7984898T>GCA338167002PARK7c.414T>G (p.His138Gln)
c.354T>G (p.His118Gln)
c.327T>G (p.His109Gln)
1g.7984899T>ACA338167003PARK7c.415T>A (p.Tyr139Asn)
c.355T>A (p.Tyr119Asn)
c.328T>A (p.Tyr110Asn)
1g.7984899T>CCA338167004PARK7c.415T>C (p.Tyr139His)
c.355T>C (p.Tyr119His)
c.328T>C (p.Tyr110His)
1g.7984899T>GCA338167005PARK7c.415T>G (p.Tyr139Asp)
c.355T>G (p.Tyr119Asp)
c.328T>G (p.Tyr110Asp)
1g.7984900A>CCA338167006PARK7c.416A>C (p.Tyr139Ser)
c.356A>C (p.Tyr119Ser)
c.329A>C (p.Tyr110Ser)
1g.7984900A>GCA338167007PARK7c.416A>G (p.Tyr139Cys)
c.356A>G (p.Tyr119Cys)
c.329A>G (p.Tyr110Cys)
gnomAD v4
1g.7984900A>TCA338167008PARK7c.416A>T (p.Tyr139Phe)
c.356A>T (p.Tyr119Phe)
c.329A>T (p.Tyr110Phe)
1g.7984901C>ACA338167010PARK7c.417C>A (p.Tyr139Ter)
c.357C>A (p.Tyr119Ter)
c.330C>A (p.Tyr110Ter)
1g.7984901C>GCA338167009PARK7c.417C>G (p.Tyr139Ter)
c.357C>G (p.Tyr119Ter)
c.330C>G (p.Tyr110Ter)
1g.7984901C>TCA415838990PARK7c.417C>T (p.Tyr139=)
c.357C>T (p.Tyr119=)
c.330C>T (p.Tyr110=)
1g.7984902A=CA1143370190PARK7c.418A= (p.Thr140=)
c.358A= (p.Thr120=)
c.331A= (p.Thr111=)
1g.7984902A>CCA338167011PARK7c.418A>C (p.Thr140Pro)
c.358A>C (p.Thr120Pro)
c.331A>C (p.Thr111Pro)
1g.7984902A>GCA17286811PARK7c.418A>G (p.Thr140Ala)
c.358A>G (p.Thr120Ala)
c.331A>G (p.Thr111Ala)
dbSNP gnomAD v4
1g.7984902A>TCA338167012PARK7c.418A>T (p.Thr140Ser)
c.358A>T (p.Thr120Ser)
c.331A>T (p.Thr111Ser)
dbSNP gnomAD v3 gnomAD v4
1g.7984903C>ACA338167013PARK7c.419C>A (p.Thr140Asn)
c.359C>A (p.Thr120Asn)
c.332C>A (p.Thr111Asn)
1g.7984903C>GCA338167014PARK7c.419C>G (p.Thr140Ser)
c.359C>G (p.Thr120Ser)
c.332C>G (p.Thr111Ser)
1g.7984903C>TCA338167015PARK7c.419C>T (p.Thr140Ile)
c.359C>T (p.Thr120Ile)
c.332C>T (p.Thr111Ile)
gnomAD v4
1g.7984904C>ACA415838996PARK7c.420C>A (p.Thr140=)
c.360C>A (p.Thr120=)
c.333C>A (p.Thr111=)
1g.7984904C>GCA415838997PARK7c.420C>G (p.Thr140=)
c.360C>G (p.Thr120=)
c.333C>G (p.Thr111=)
1g.7984904C>TCA415838998PARK7c.420C>T (p.Thr140=)
c.360C>T (p.Thr120=)
c.333C>T (p.Thr111=)
1g.7984905T>ACA338167018PARK7c.421T>A (p.Tyr141Asn)
c.361T>A (p.Tyr121Asn)
c.334T>A (p.Tyr112Asn)
1g.7984905T>CCA338167016PARK7c.421T>C (p.Tyr141His)
c.361T>C (p.Tyr121His)
c.334T>C (p.Tyr112His)
1g.7984905T>GCA338167017PARK7c.421T>G (p.Tyr141Asp)
c.361T>G (p.Tyr121Asp)
c.334T>G (p.Tyr112Asp)
1g.7984906A>CCA338167019PARK7c.422A>C (p.Tyr141Ser)
c.362A>C (p.Tyr121Ser)
c.335A>C (p.Tyr112Ser)
1g.7984906A>GCA338167020PARK7c.422A>G (p.Tyr141Cys)
c.362A>G (p.Tyr121Cys)
c.335A>G (p.Tyr112Cys)
1g.7984906A>TCA338167021PARK7c.422A>T (p.Tyr141Phe)
c.362A>T (p.Tyr121Phe)
c.335A>T (p.Tyr112Phe)
1g.7984907C>ACA338167022PARK7c.423C>A (p.Tyr141Ter)
c.363C>A (p.Tyr121Ter)
c.336C>A (p.Tyr112Ter)
1g.7984907C>GCA338167023PARK7c.423C>G (p.Tyr141Ter)
c.363C>G (p.Tyr121Ter)
c.336C>G (p.Tyr112Ter)
1g.7984907C>TCA415839000PARK7c.423C>T (p.Tyr141=)
c.363C>T (p.Tyr121=)
c.336C>T (p.Tyr112=)
gnomAD v4
1g.7984908T>ACA338167024PARK7c.424T>A (p.Ser142Thr)
c.364T>A (p.Ser122Thr)
c.337T>A (p.Ser113Thr)
1g.7984908T>CCA338167026PARK7c.424T>C (p.Ser142Pro)
c.364T>C (p.Ser122Pro)
c.337T>C (p.Ser113Pro)
1g.7984908T>GCA338167025PARK7c.424T>G (p.Ser142Ala)
c.364T>G (p.Ser122Ala)
c.337T>G (p.Ser113Ala)
1g.7984909C>ACA338167027PARK7c.425C>A (p.Ser142Tyr)
c.365C>A (p.Ser122Tyr)
c.338C>A (p.Ser113Tyr)
1g.7984909C=CA1152147372PARK7c.425C= (p.Ser142=)
c.365C= (p.Ser122=)
c.338C= (p.Ser113=)
1g.7984909C>GCA338167028PARK7c.425C>G (p.Ser142Cys)
c.365C>G (p.Ser122Cys)
c.338C>G (p.Ser113Cys)
1g.7984909C>TCA338167029PARK7c.425C>T (p.Ser142Phe)
c.365C>T (p.Ser122Phe)
c.338C>T (p.Ser113Phe)
ClinVar dbSNP gnomAD v4
1g.7984910T>ACA415839004PARK7c.426T>A (p.Ser142=)
c.366T>A (p.Ser122=)
c.339T>A (p.Ser113=)
1g.7984910T>CCA415839005PARK7c.426T>C (p.Ser142=)
c.366T>C (p.Ser122=)
c.339T>C (p.Ser113=)
1g.7984910T>GCA415839006PARK7c.426T>G (p.Ser142=)
c.366T>G (p.Ser122=)
c.339T>G (p.Ser113=)
1g.7984911G>ACA338167030PARK7c.427G>A (p.Glu143Lys)
c.367G>A (p.Glu123Lys)
c.340G>A (p.Glu114Lys)
1g.7984911G>CCA338167031PARK7c.427G>C (p.Glu143Gln)
c.367G>C (p.Glu123Gln)
c.340G>C (p.Glu114Gln)
dbSNP
1g.7984911G=CA1152147377PARK7c.427G= (p.Glu143=)
c.367G= (p.Glu123=)
c.340G= (p.Glu114=)
1g.7984911G>TCA338167032PARK7c.427G>T (p.Glu143Ter)
c.367G>T (p.Glu123Ter)
c.340G>T (p.Glu114Ter)
1g.7984912A>CCA338167033PARK7c.428A>C (p.Glu143Ala)
c.368A>C (p.Glu123Ala)
c.341A>C (p.Glu114Ala)
1g.7984912A>GCA338167034PARK7c.428A>G (p.Glu143Gly)
c.368A>G (p.Glu123Gly)
c.341A>G (p.Glu114Gly)
1g.7984912A>TCA338167035PARK7c.428A>T (p.Glu143Val)
c.368A>T (p.Glu123Val)
c.341A>T (p.Glu114Val)
1g.7984913G>ACA569619PARK7c.429G>A (p.Glu143=)
c.369G>A (p.Glu123=)
c.342G>A (p.Glu114=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984913G>CCA338167036PARK7c.429G>C (p.Glu143Asp)
c.369G>C (p.Glu123Asp)
c.342G>C (p.Glu114Asp)
1g.7984913G=CA1141747306PARK7c.429G= (p.Glu143=)
c.369G= (p.Glu123=)
c.342G= (p.Glu114=)
1g.7984913G>TCA338167037PARK7c.429G>T (p.Glu143Asp)
c.369G>T (p.Glu123Asp)
c.342G>T (p.Glu114Asp)
1g.7984914A>CCA338167040PARK7c.430A>C (p.Asn144His)
c.370A>C (p.Asn124His)
c.343A>C (p.Asn115His)
1g.7984914A>GCA338167038PARK7c.430A>G (p.Asn144Asp)
c.370A>G (p.Asn124Asp)
c.343A>G (p.Asn115Asp)
1g.7984914A>TCA338167039PARK7c.430A>T (p.Asn144Tyr)
c.370A>T (p.Asn124Tyr)
c.343A>T (p.Asn115Tyr)
1g.7984915A=CA1149120420PARK7c.431A= (p.Asn144=)
c.371A= (p.Asn124=)
c.344A= (p.Asn115=)
1g.7984915A>CCA338167041PARK7c.431A>C (p.Asn144Thr)
c.371A>C (p.Asn124Thr)
c.344A>C (p.Asn115Thr)
1g.7984915A>GCA569620PARK7c.431A>G (p.Asn144Ser)
c.371A>G (p.Asn124Ser)
c.344A>G (p.Asn115Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984915A>TCA338167042PARK7c.431A>T (p.Asn144Ile)
c.371A>T (p.Asn124Ile)
c.344A>T (p.Asn115Ile)
1g.7984916T>ACA338167043PARK7c.432T>A (p.Asn144Lys)
c.372T>A (p.Asn124Lys)
c.345T>A (p.Asn115Lys)
dbSNP gnomAD v2 gnomAD v4
1g.7984916T>CCA415839014PARK7c.432T>C (p.Asn144=)
c.372T>C (p.Asn124=)
c.345T>C (p.Asn115=)
gnomAD v4
1g.7984916T>GCA338167044PARK7c.432T>G (p.Asn144Lys)
c.372T>G (p.Asn124Lys)
c.345T>G (p.Asn115Lys)
1g.7984916T=CA1152147382PARK7c.432T= (p.Asn144=)
c.372T= (p.Asn124=)
c.345T= (p.Asn115=)
1g.7984916_7984917delinsTCCA1152147386PARK7c.432_433delinsTC (p.Asn144=)
c.372_373delinsTC (p.Asn124=)
c.345_346delinsTC (p.Asn115=)
1g.7984917delCA998307648PARK7c.433del (p.Arg145ValfsTer7)
c.373del (p.Arg125ValfsTer7)
c.346del (p.Arg116ValfsTer7)
dbSNP gnomAD v3 gnomAD v4
1g.7984917C>ACA17286812PARK7c.433C>A (p.Arg145Ser)
c.373C>A (p.Arg125Ser)
c.346C>A (p.Arg116Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7984917C=CA1152147387PARK7c.433C= (p.Arg145=)
c.373C= (p.Arg125=)
c.346C= (p.Arg116=)
1g.7984917C>GCA338167045PARK7c.433C>G (p.Arg145Gly)
c.373C>G (p.Arg125Gly)
c.346C>G (p.Arg116Gly)
gnomAD v4
1g.7984917C>TCA569621PARK7c.433C>T (p.Arg145Cys)
c.373C>T (p.Arg125Cys)
c.346C>T (p.Arg116Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984918G>ACA569622PARK7c.434G>A (p.Arg145His)
c.374G>A (p.Arg125His)
c.347G>A (p.Arg116His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984918G>CCA338167046PARK7c.434G>C (p.Arg145Pro)
c.374G>C (p.Arg125Pro)
c.347G>C (p.Arg116Pro)
dbSNP gnomAD v2 gnomAD v4
1g.7984918G=CA1142255632PARK7c.434G= (p.Arg145=)
c.374G= (p.Arg125=)
c.347G= (p.Arg116=)
1g.7984918G>TCA338167047PARK7c.434G>T (p.Arg145Leu)
c.374G>T (p.Arg125Leu)
c.347G>T (p.Arg116Leu)
1g.7984919T>ACA415839016PARK7c.435T>A (p.Arg145=)
c.375T>A (p.Arg125=)
c.348T>A (p.Arg116=)
1g.7984919T>CCA415839017PARK7c.435T>C (p.Arg145=)
c.375T>C (p.Arg125=)
c.348T>C (p.Arg116=)
1g.7984919T>GCA415839019PARK7c.435T>G (p.Arg145=)
c.375T>G (p.Arg125=)
c.348T>G (p.Arg116=)
1g.7984920G>ACA17286813PARK7c.436G>A (p.Val146Met)
c.376G>A (p.Val126Met)
c.349G>A (p.Val117Met)
ClinVar dbSNP gnomAD v2
1g.7984920G>CCA338167049PARK7c.436G>C (p.Val146Leu)
c.376G>C (p.Val126Leu)
c.349G>C (p.Val117Leu)
1g.7984920G=CA1144032736PARK7c.436G= (p.Val146=)
c.376G= (p.Val126=)
c.349G= (p.Val117=)
1g.7984920G>TCA338167048PARK7c.436G>T (p.Val146Leu)
c.376G>T (p.Val126Leu)
c.349G>T (p.Val117Leu)
dbSNP gnomAD v3 gnomAD v4
1g.7984921T>ACA338167050PARK7c.437T>A (p.Val146Glu)
c.377T>A (p.Val126Glu)
c.350T>A (p.Val117Glu)
1g.7984921T>CCA338167051PARK7c.437T>C (p.Val146Ala)
c.377T>C (p.Val126Ala)
c.350T>C (p.Val117Ala)
1g.7984921T>GCA569623PARK7c.437T>G (p.Val146Gly)
c.377T>G (p.Val126Gly)
c.350T>G (p.Val117Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984921T=CA1152147394PARK7c.437T= (p.Val146=)
c.377T= (p.Val126=)
c.350T= (p.Val117=)
1g.7984922G>ACA415839025PARK7c.438G>A (p.Val146=)
c.378G>A (p.Val126=)
c.351G>A (p.Val117=)
1g.7984922G>CCA415839024PARK7c.438G>C (p.Val146=)
c.378G>C (p.Val126=)
c.351G>C (p.Val117=)
1g.7984922G>TCA415839023PARK7c.438G>T (p.Val146=)
c.378G>T (p.Val126=)
c.351G>T (p.Val117=)
1g.7984923G>ACA338167052PARK7c.439G>A (p.Glu147Lys)
c.379G>A (p.Glu127Lys)
c.352G>A (p.Glu118Lys)
1g.7984923G>CCA338167054PARK7c.439G>C (p.Glu147Gln)
c.379G>C (p.Glu127Gln)
c.352G>C (p.Glu118Gln)
1g.7984923G=CA1152147400PARK7c.439G= (p.Glu147=)
c.379G= (p.Glu127=)
c.352G= (p.Glu118=)
1g.7984923G>TCA338167053PARK7c.439G>T (p.Glu147Ter)
c.379G>T (p.Glu127Ter)
c.352G>T (p.Glu118Ter)
1g.7984924A>CCA338167055PARK7c.440A>C (p.Glu147Ala)
c.380A>C (p.Glu127Ala)
c.353A>C (p.Glu118Ala)
1g.7984924A>GCA338167056PARK7c.440A>G (p.Glu147Gly)
c.380A>G (p.Glu127Gly)
c.353A>G (p.Glu118Gly)
1g.7984924A>TCA338167057PARK7c.440A>T (p.Glu147Val)
c.380A>T (p.Glu127Val)
c.353A>T (p.Glu118Val)
1g.7984928dupCA521019989PARK7c.444dup (p.Asp149ArgfsTer22)
c.384dup (p.Asp129ArgfsTer22)
c.357dup (p.Asp120ArgfsTer22)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.7984925A>CCA338167058PARK7c.441A>C (p.Glu147Asp)
c.381A>C (p.Glu127Asp)
c.354A>C (p.Glu118Asp)
1g.7984925A>GCA415839028PARK7c.441A>G (p.Glu147=)
c.381A>G (p.Glu127=)
c.354A>G (p.Glu118=)
gnomAD v4
1g.7984925A>TCA338167059PARK7c.441A>T (p.Glu147Asp)
c.381A>T (p.Glu127Asp)
c.354A>T (p.Glu118Asp)
1g.7984926A=CA1152147402PARK7c.442A= (p.Lys148=)
c.382A= (p.Lys128=)
c.355A= (p.Lys119=)
1g.7984926A>CCA338167060PARK7c.442A>C (p.Lys148Gln)
c.382A>C (p.Lys128Gln)
c.355A>C (p.Lys119Gln)
1g.7984926A>GCA338167061PARK7c.442A>G (p.Lys148Glu)
c.382A>G (p.Lys128Glu)
c.355A>G (p.Lys119Glu)
1g.7984926A>TCA338167062PARK7c.442A>T (p.Lys148Ter)
c.382A>T (p.Lys128Ter)
c.355A>T (p.Lys119Ter)
dbSNP gnomAD v3 gnomAD v4
1g.7984927A=CA1152147406PARK7c.443A= (p.Lys148=)
c.383A= (p.Lys128=)
c.356A= (p.Lys119=)
1g.7984927A>CCA338167063PARK7c.443A>C (p.Lys148Thr)
c.383A>C (p.Lys128Thr)
c.356A>C (p.Lys119Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7984927A>GCA338167064PARK7c.443A>G (p.Lys148Arg)
c.383A>G (p.Lys128Arg)
c.356A>G (p.Lys119Arg)
1g.7984927A>TCA338167065PARK7c.443A>T (p.Lys148Ile)
c.383A>T (p.Lys128Ile)
c.356A>T (p.Lys119Ile)
1g.7984928A=CA1152147411PARK7c.444A= (p.Lys148=)
c.384A= (p.Lys128=)
c.357A= (p.Lys119=)
1g.7984928A>CCA338167066PARK7c.444A>C (p.Lys148Asn)
c.384A>C (p.Lys128Asn)
c.357A>C (p.Lys119Asn)
1g.7984928A>GCA569624PARK7c.444A>G (p.Lys148=)
c.384A>G (p.Lys128=)
c.357A>G (p.Lys119=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7984928A>TCA338167067PARK7c.444A>T (p.Lys148Asn)
c.384A>T (p.Lys128Asn)
c.357A>T (p.Lys119Asn)
1g.7984929G>ACA338167068PARK7c.445G>A (p.Asp149Asn)
c.385G>A (p.Asp129Asn)
c.358G>A (p.Asp120Asn)
gnomAD v4
1g.7984929G>CCA338167069PARK7c.445G>C (p.Asp149His)
c.385G>C (p.Asp129His)
c.358G>C (p.Asp120His)
1g.7984929G>TCA338167070PARK7c.445G>T (p.Asp149Tyr)
c.385G>T (p.Asp129Tyr)
c.358G>T (p.Asp120Tyr)
1g.7984930A=CA1140886315PARK7c.446A= (p.Asp149=)
c.386A= (p.Asp129=)
c.359A= (p.Asp120=)
1g.7984930A>CCA254094PARK7c.446A>C (p.Asp149Ala)
c.386A>C (p.Asp129Ala)
c.359A>C (p.Asp120Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7984930A>GCA338167071PARK7c.446A>G (p.Asp149Gly)
c.386A>G (p.Asp129Gly)
c.359A>G (p.Asp120Gly)
1g.7984930A>TCA338167072PARK7c.446A>T (p.Asp149Val)
c.386A>T (p.Asp129Val)
c.359A>T (p.Asp120Val)
1g.7984931C>ACA338167073PARK7c.447C>A (p.Asp149Glu)
c.387C>A (p.Asp129Glu)
c.360C>A (p.Asp120Glu)
1g.7984931C=CA1142011312PARK7c.447C= (p.Asp149=)
c.387C= (p.Asp129=)
c.360C= (p.Asp120=)
1g.7984931C>GCA338167074PARK7c.447C>G (p.Asp149Glu)
c.387C>G (p.Asp129Glu)
c.360C>G (p.Asp120Glu)
1g.7984931C>TCA569625PARK7c.447C>T (p.Asp149=)
c.387C>T (p.Asp129=)
c.360C>T (p.Asp120=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched