Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7984817_7984819del | CA2742365510 | PARK7 | c.410-77_410-75del (n.410-77_410-75del) c.350-77_350-75del (n.350-77_350-75del) c.293-47_293-45del (n.293-47_293-45del) | |
1 | g.7984820T>C | CA521019982 | PARK7 | c.410-74T>C (n.410-74T>C) c.350-74T>C (n.350-74T>C) c.293-44T>C (n.293-44T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7984820T= | CA1152147253 | PARK7 | c.410-74T= (n.410-74T=) c.350-74T= (n.350-74T=) c.293-44T= (n.293-44T=) | |
1 | g.7984822del | CA2643056852 | PARK7 | c.410-72del (n.410-72del) c.350-72del (n.350-72del) c.293-42del (n.293-42del) | gnomAD v4 |
1 | g.7984821T>G | CA2742365511 | PARK7 | c.410-73T>G (n.410-73T>G) c.350-73T>G (n.350-73T>G) c.293-43T>G (n.293-43T>G) | |
1 | g.7984824A>C | CA2840117069 | PARK7 | c.410-70A>C (n.410-70A>C) c.350-70A>C (n.350-70A>C) c.293-40A>C (n.293-40A>C) | |
1 | g.7984826T>A | CA739208238 | PARK7 | c.410-68T>A (n.410-68T>A) c.350-68T>A (n.350-68T>A) c.293-38T>A (n.293-38T>A) | dbSNP |
1 | g.7984826T= | CA1152147255 | PARK7 | c.410-68T= (n.410-68T=) c.350-68T= (n.350-68T=) c.293-38T= (n.293-38T=) | |
1 | g.7984827G>A | CA569604 | PARK7 | c.410-67G>A (n.410-67G>A) c.350-67G>A (n.350-67G>A) c.293-37G>A (n.293-37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7984827G= | CA1152147258 | PARK7 | c.410-67G= (n.410-67G=) c.350-67G= (n.350-67G=) c.293-37G= (n.293-37G=) | |
1 | g.7984829T>G | CA2643056853 | PARK7 | c.410-65T>G (n.410-65T>G) c.350-65T>G (n.350-65T>G) c.293-35T>G (n.293-35T>G) | gnomAD v4 |
1 | g.7984831del | CA2643056854 | PARK7 | c.410-63del (n.410-63del) c.350-63del (n.350-63del) c.293-33del (n.293-33del) | gnomAD v4 |
1 | g.7984832G>C | CA739208240 | PARK7 | c.410-62G>C (n.410-62G>C) c.350-62G>C (n.350-62G>C) c.293-32G>C (n.293-32G>C) | dbSNP |
1 | g.7984832G= | CA1152147260 | PARK7 | c.410-62G= (n.410-62G=) c.350-62G= (n.350-62G=) c.293-32G= (n.293-32G=) | |
1 | g.7984832_7984836delinsGTAAT | CA1152147261 | PARK7 | c.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) | |
1 | g.7984833_7984836del | CA739208244 | PARK7 | c.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 |
1 | g.7984834A= | CA1152147263 | PARK7 | c.410-60A= (n.410-60A=) c.350-60A= (n.350-60A=) c.293-30A= (n.293-30A=) | |
1 | g.7984834A>G | CA17286808 | PARK7 | c.410-60A>G (n.410-60A>G) c.350-60A>G (n.350-60A>G) c.293-30A>G (n.293-30A>G) | dbSNP |
1 | g.7984835del | CA2643056855 | PARK7 | c.410-59del (n.410-59del) c.350-59del (n.350-59del) c.293-29del (n.293-29del) | gnomAD v4 |
1 | g.7984835A>G | CA2643056856 | PARK7 | c.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 |
1 | g.7984835A>T | CA2840117070 | PARK7 | c.410-59A>T (n.410-59A>T) c.350-59A>T (n.350-59A>T) c.293-29A>T (n.293-29A>T) | |
1 | g.7984836T>C | CA2643056857 | PARK7 | c.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 |
1 | g.7984836T>G | CA2742365512 | PARK7 | c.410-58T>G (n.410-58T>G) c.350-58T>G (n.350-58T>G) c.293-28T>G (n.293-28T>G) | |
1 | g.7984837C>A | CA2742365513 | PARK7 | c.410-57C>A (n.410-57C>A) c.350-57C>A (n.350-57C>A) c.293-27C>A (n.293-27C>A) | |
1 | g.7984837C= | CA1152147265 | PARK7 | c.410-57C= (n.410-57C=) c.350-57C= (n.350-57C=) c.293-27C= (n.293-27C=) | |
1 | g.7984837C>T | CA569605 | PARK7 | c.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 |
1 | g.7984838G>A | CA569606 | PARK7 | c.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 |
1 | g.7984838G= | CA1152147271 | PARK7 | c.410-56G= (n.410-56G=) c.350-56G= (n.350-56G=) c.293-26G= (n.293-26G=) | |
1 | g.7984839T>C | CA521019986 | PARK7 | c.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 |
1 | g.7984839T= | CA1152147272 | PARK7 | c.410-55T= (n.410-55T=) c.350-55T= (n.350-55T=) c.293-25T= (n.293-25T=) | |
1 | g.7984840C= | CA1152147273 | PARK7 | c.410-54C= (n.410-54C=) c.350-54C= (n.350-54C=) c.293-24C= (n.293-24C=) | |
1 | g.7984840C>G | CA569607 | PARK7 | c.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 |
1 | g.7984840C>T | CA1152147274 | PARK7 | c.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 |
1 | g.7984842_7984843del | CA2643056858 | PARK7 | c.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 |
1 | g.7984842T>C | CA17286809 | PARK7 | c.410-52T>C (n.410-52T>C) c.350-52T>C (n.350-52T>C) c.293-22T>C (n.293-22T>C) | dbSNP |
1 | g.7984842T= | CA1152147277 | PARK7 | c.410-52T= (n.410-52T=) c.350-52T= (n.350-52T=) c.293-22T= (n.293-22T=) | |
1 | g.7984842_7984846delinsTTCTC | CA1152147276 | PARK7 | c.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) | |
1 | g.7984843_7984846del | CA569608 | PARK7 | c.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 |
1 | g.7984843_7984846delinsTCTC | CA1144276561 | PARK7 | c.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) | |
1 | g.7984845T>C | CA569609 | PARK7 | c.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 |
1 | g.7984845T= | CA1139922304 | PARK7 | c.410-49T= (n.410-49T=) c.350-49T= (n.350-49T=) c.293-19T= (n.293-19T=) | |
1 | g.7984846C>A | CA2643056859 | PARK7 | c.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 |
1 | g.7984846C= | CA1145685746 | PARK7 | c.410-48C= (n.410-48C=) c.350-48C= (n.350-48C=) c.293-18C= (n.293-18C=) | |
1 | g.7984846C>T | CA569610 | PARK7 | c.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 |
1 | g.7984847G>A | CA569611 | PARK7 | c.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 |
1 | g.7984847G>C | CA2643056860 | PARK7 | c.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 |
1 | g.7984847G= | CA1147342332 | PARK7 | c.410-47G= (n.410-47G=) c.350-47G= (n.350-47G=) c.293-17G= (n.293-17G=) | |
1 | g.7984848T>C | CA2643056861 | PARK7 | c.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 |
1 | g.7984849C>A | CA2643056862 | PARK7 | c.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 |
1 | g.7984849C>T | CA2643056863 | PARK7 | c.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 |
1 | g.7984852A>G | CA2574198745 | PARK7 | c.410-42A>G (n.410-42A>G) c.350-42A>G (n.350-42A>G) c.293-12A>G (n.293-12A>G) | |
1 | g.7984853T>C | CA2643056864 | PARK7 | c.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 |
1 | g.7984855G>A | CA2643056865 | PARK7 | c.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 |
1 | g.7984855G>T | CA2643056866 | PARK7 | c.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 |
1 | g.7984856C= | CA1152147284 | PARK7 | c.410-38C= (n.410-38C=) c.350-38C= (n.350-38C=) c.293-8C= (n.293-8C=) | |
1 | g.7984856C>T | CA569612 | PARK7 | c.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 |
1 | g.7984857C>G | CA2643056867 | PARK7 | c.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 |
1 | g.7984857C>T | CA2840117071 | PARK7 | c.410-37C>T (n.410-37C>T) c.350-37C>T (n.350-37C>T) c.293-7C>T (n.293-7C>T) | |
1 | g.7984858C>A | CA2643056868 | PARK7 | c.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 |
1 | g.7984858C>T | CA2643056869 | PARK7 | c.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 |
1 | g.7984859A>G | CA2574198747 | PARK7 | c.410-35A>G (n.410-35A>G) c.350-35A>G (n.350-35A>G) c.293-5A>G (n.293-5A>G) | |
1 | g.7984860T= | CA1152147288 | PARK7 | c.410-34T= (n.410-34T=) c.350-34T= (n.350-34T=) c.293-4T= (n.293-4T=) | |
1 | g.7984861T>C | CA521019987 | PARK7 | c.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 |
1 | g.7984861T>G | CA415838948 | PARK7 | c.410-33T>G (n.410-33T>G) c.350-33T>G (n.350-33T>G) c.293-3T>G (n.293-3T>G) | dbSNP |
1 | g.7984861T= | CA1152147292 | PARK7 | c.410-33T= (n.410-33T=) c.350-33T= (n.350-33T=) c.293-3T= (n.293-3T=) | |
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.7984862A>C | CA338166914 | PARK7 | c.410-32A>C (n.410-32A>C) c.350-32A>C (n.350-32A>C) c.293-2A>C (n.293-2A>C) | |
1 | g.7984862A>G | CA338166915 | PARK7 | c.410-32A>G (n.410-32A>G) c.350-32A>G (n.350-32A>G) c.293-2A>G (n.293-2A>G) | |
1 | g.7984862A>T | CA338166916 | PARK7 | c.410-32A>T (n.410-32A>T) c.350-32A>T (n.350-32A>T) c.293-2A>T (n.293-2A>T) | |
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=) |