Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136826261_136826263delCA148641164PEX7c.189-58_189-56del (n.189-58_189-56del)
c.59-53_59-51del
c.75-58_75-56del (n.75-58_75-56del)
c.189-53_189-51del (n.189-53_189-51del)
c.69-58_69-56del (n.69-58_69-56del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826260T>CCA2578751732PEX7c.189-59T>C (n.189-59T>C)
c.59-54T>C
c.75-59T>C (n.75-59T>C)
c.189-54T>C (n.189-54T>C)
c.69-59T>C (n.69-59T>C)
6g.136826262G>ACA2680489123PEX7c.189-57G>A (n.189-57G>A)
c.59-52G>A
c.75-57G>A (n.75-57G>A)
c.189-52G>A (n.189-52G>A)
c.69-57G>A (n.69-57G>A)
 gnomAD v4
6g.136826262G>TCA2680489124PEX7c.189-57G>T (n.189-57G>T)
c.59-52G>T
c.75-57G>T (n.75-57G>T)
c.189-52G>T (n.189-52G>T)
c.69-57G>T (n.69-57G>T)
 dbSNP gnomAD v4
6g.136826263T>ACA2680489125PEX7c.189-56T>A (n.189-56T>A)
c.59-51T>A
c.75-56T>A (n.75-56T>A)
c.189-51T>A (n.189-51T>A)
c.69-56T>A (n.69-56T>A)
 gnomAD v4
6g.136826264G>ACA2680489126PEX7c.189-55G>A (n.189-55G>A)
c.59-50G>A
c.75-55G>A (n.75-55G>A)
c.189-50G>A (n.189-50G>A)
c.69-55G>A (n.69-55G>A)
 gnomAD v4
6g.136826264G>TCA2680489127PEX7c.189-55G>T (n.189-55G>T)
c.59-50G>T
c.75-55G>T (n.75-55G>T)
c.189-50G>T (n.189-50G>T)
c.69-55G>T (n.69-55G>T)
 gnomAD v4
6g.136826265T>CCA2680489128PEX7c.189-54T>C (n.189-54T>C)
c.59-49T>C
c.75-54T>C (n.75-54T>C)
c.189-49T>C (n.189-49T>C)
c.69-54T>C (n.69-54T>C)
 gnomAD v4
6g.136826266A>GCA148641165PEX7c.189-53A>G (n.189-53A>G)
c.59-48A>G
c.75-53A>G (n.75-53A>G)
c.189-48A>G (n.189-48A>G)
c.69-53A>G (n.69-53A>G)
 dbSNP gnomAD v4
6g.136826268C>ACA148641166PEX7c.189-51C>A (n.189-51C>A)
c.59-46C>A
c.75-51C>A (n.75-51C>A)
c.189-46C>A (n.189-46C>A)
c.69-51C>A (n.69-51C>A)
 dbSNP gnomAD v4
6g.136826268C>TCA2680489129PEX7c.189-51C>T (n.189-51C>T)
c.59-46C>T
c.75-51C>T (n.75-51C>T)
c.189-46C>T (n.189-46C>T)
c.69-51C>T (n.69-51C>T)
 gnomAD v4
6g.136826269T>GCA2680489130PEX7c.189-50T>G (n.189-50T>G)
c.59-45T>G
c.75-50T>G (n.75-50T>G)
c.189-45T>G (n.189-45T>G)
c.69-50T>G (n.69-50T>G)
 gnomAD v4
6g.136826270G>CCA570744333PEX7c.189-49G>C (n.189-49G>C)
c.59-44G>C
c.75-49G>C (n.75-49G>C)
c.189-44G>C (n.189-44G>C)
c.69-49G>C (n.69-49G>C)
 dbSNP gnomAD v2 gnomAD v4
6g.136826271C>ACA4017519PEX7c.189-48C>A (n.189-48C>A)
c.59-43C>A
c.75-48C>A (n.75-48C>A)
c.189-43C>A (n.189-43C>A)
c.69-48C>A (n.69-48C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826272C>ACA2680489131PEX7c.189-47C>A (n.189-47C>A)
c.59-42C>A
c.75-47C>A (n.75-47C>A)
c.189-42C>A (n.189-42C>A)
c.69-47C>A (n.69-47C>A)
 gnomAD v4
6g.136826272C>TCA570744336PEX7c.189-47C>T (n.189-47C>T)
c.59-42C>T
c.75-47C>T (n.75-47C>T)
c.189-42C>T (n.189-42C>T)
c.69-47C>T (n.69-47C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.136826274A>CCA2680489132PEX7c.189-45A>C (n.189-45A>C)
c.59-40A>C
c.75-45A>C (n.75-45A>C)
c.189-40A>C (n.189-40A>C)
c.69-45A>C (n.69-45A>C)
 gnomAD v4
6g.136826274A>GCA570744337PEX7c.189-45A>G (n.189-45A>G)
c.59-40A>G
c.75-45A>G (n.75-45A>G)
c.189-40A>G (n.189-40A>G)
c.69-45A>G (n.69-45A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.136826276G>ACA2680489133PEX7c.189-43G>A (n.189-43G>A)
c.59-38G>A
c.75-43G>A (n.75-43G>A)
c.189-38G>A (n.189-38G>A)
c.69-43G>A (n.69-43G>A)
 gnomAD v4
6g.136826276G>TCA2773213156PEX7c.189-43G>T (n.189-43G>T)
c.59-38G>T
c.75-43G>T (n.75-43G>T)
c.189-38G>T (n.189-38G>T)
c.69-43G>T (n.69-43G>T)
6g.136826277T>CCA148641167PEX7c.189-42T>C (n.189-42T>C)
c.59-37T>C
c.75-42T>C (n.75-42T>C)
c.189-37T>C (n.189-37T>C)
c.69-42T>C (n.69-42T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826277T>GCA570744340PEX7c.189-42T>G (n.189-42T>G)
c.59-37T>G
c.75-42T>G (n.75-42T>G)
c.189-37T>G (n.189-37T>G)
c.69-42T>G (n.69-42T>G)
 dbSNP gnomAD v2 gnomAD v4
6g.136826279delCA2713378691PEX7c.189-40del (n.189-40del)
c.59-35del
c.75-40del (n.75-40del)
c.189-35del (n.189-35del)
c.69-40del (n.69-40del)
 dbSNP
6g.136826280G>ACA4017520PEX7c.189-39G>A (n.189-39G>A)
c.59-34G>A
c.75-39G>A (n.75-39G>A)
c.189-34G>A (n.189-34G>A)
c.69-39G>A (n.69-39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826283T>CCA2680489134PEX7c.189-36T>C (n.189-36T>C)
c.59-31T>C
c.75-36T>C (n.75-36T>C)
c.189-31T>C (n.189-31T>C)
c.69-36T>C (n.69-36T>C)
 gnomAD v4
6g.136826285G>TCA2680489135PEX7c.189-34G>T (n.189-34G>T)
c.59-29G>T
c.75-34G>T (n.75-34G>T)
c.189-29G>T (n.189-29G>T)
c.69-34G>T (n.69-34G>T)
 dbSNP gnomAD v4
6g.136826288T>CCA2578751733PEX7c.189-31T>C (n.189-31T>C)
c.59-26T>C
c.75-31T>C (n.75-31T>C)
c.189-26T>C (n.189-26T>C)
c.69-31T>C (n.69-31T>C)
 dbSNP gnomAD v4
6g.136826294dupCA4017521PEX7c.189-25dup (n.189-25dup)
c.59-20dup
c.75-25dup (n.75-25dup)
c.189-20dup (n.189-20dup)
c.69-25dup (n.69-25dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826294delCA2680489136PEX7c.189-25del (n.189-25del)
c.59-20del
c.75-25del (n.75-25del)
c.189-20del (n.189-20del)
c.69-25del (n.69-25del)
 gnomAD v4
6g.136826289T>ACA2680489137PEX7c.189-30T>A (n.189-30T>A)
c.59-25T>A
c.75-30T>A (n.75-30T>A)
c.189-25T>A (n.189-25T>A)
c.69-30T>A (n.69-30T>A)
 gnomAD v4
6g.136826292T>ACA4017522PEX7c.189-27T>A (n.189-27T>A)
c.59-22T>A
c.75-27T>A (n.75-27T>A)
c.189-22T>A (n.189-22T>A)
c.69-27T>A (n.69-27T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826292T>GCA570744345PEX7c.189-27T>G (n.189-27T>G)
c.59-22T>G
c.75-27T>G (n.75-27T>G)
c.189-22T>G (n.189-22T>G)
c.69-27T>G (n.69-27T>G)
 dbSNP gnomAD v2 gnomAD v4
6g.136826298_136826300delCA570744346PEX7c.189-21_189-19del (n.189-21_189-19del)
c.59-16_59-14del
c.75-21_75-19del (n.75-21_75-19del)
c.189-16_189-14del (n.189-16_189-14del)
c.69-21_69-19del (n.69-21_69-19del)
 dbSNP gnomAD v2 gnomAD v4
6g.136826295delCA4017523PEX7c.189-24del (n.189-24del)
c.59-19del
c.75-24del (n.75-24del)
c.189-19del (n.189-19del)
c.69-24del (n.69-24del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826295G>TCA2578751734PEX7c.189-24G>T (n.189-24G>T)
c.59-19G>T
c.75-24G>T (n.75-24G>T)
c.189-19G>T (n.189-19G>T)
c.69-24G>T (n.69-24G>T)
 dbSNP gnomAD v4
6g.136826296T>GCA2773213158PEX7c.189-23T>G (n.189-23T>G)
c.59-18T>G
c.75-23T>G (n.75-23T>G)
c.189-18T>G (n.189-18T>G)
c.69-23T>G (n.69-23T>G)
6g.136826297delCA365855701PEX7c.189-22del (n.189-22del)
c.59-17del
c.75-22del (n.75-22del)
c.189-17del (n.189-17del)
c.69-22del (n.69-22del)
6g.136826298_136826299delCA819502939PEX7c.189-21_189-20del (n.189-21_189-20del)
c.59-16_59-15del
c.75-21_75-20del (n.75-21_75-20del)
c.189-16_189-15del (n.189-16_189-15del)
c.69-21_69-20del (n.69-21_69-20del)
 dbSNP gnomAD v3 gnomAD v4
6g.136826298G>TCA2680489138PEX7c.189-21G>T (n.189-21G>T)
c.59-16G>T
c.75-21G>T (n.75-21G>T)
c.189-16G>T (n.189-16G>T)
c.69-21G>T (n.69-21G>T)
 gnomAD v4
6g.136826298dupCA2497183945PEX7c.189-21dup (n.189-21dup)
c.59-16dup
c.75-21dup (n.75-21dup)
c.189-16dup (n.189-16dup)
c.69-21dup (n.69-21dup)
 dbSNP
6g.136826299T>CCA2740091500PEX7c.189-20T>C (n.189-20T>C)
c.59-15T>C
c.75-20T>C (n.75-20T>C)
c.189-15T>C (n.189-15T>C)
c.69-20T>C (n.69-20T>C)
 ClinVar
6g.136826302delCA2497183946PEX7c.189-17del (n.189-17del)
c.59-12del
c.75-17del (n.75-17del)
c.189-12del (n.189-12del)
c.69-17del (n.69-17del)
 dbSNP
6g.136826302G>ACA4017524PEX7c.189-17G>A (n.189-17G>A)
c.59-12G>A
c.75-17G>A (n.75-17G>A)
c.189-12G>A (n.189-12G>A)
c.69-17G>A (n.69-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826302G>TCA2680489139PEX7c.189-17G>T (n.189-17G>T)
c.59-12G>T
c.75-17G>T (n.75-17G>T)
c.189-12G>T (n.189-12G>T)
c.69-17G>T (n.69-17G>T)
 gnomAD v4
6g.136826302_136826303insCCA2518305562PEX7c.189-17_189-16insC (n.189-17_189-16insC)
c.59-12_59-11insC
c.75-17_75-16insC (n.75-17_75-16insC)
c.189-12_189-11insC (n.189-12_189-11insC)
c.69-17_69-16insC (n.69-17_69-16insC)
6g.136826303T>ACA2680489141PEX7c.189-16T>A (n.189-16T>A)
c.59-11T>A
c.75-16T>A (n.75-16T>A)
c.189-11T>A (n.189-11T>A)
c.69-16T>A (n.69-16T>A)
 ClinVar gnomAD v4
6g.136826308dupCA2680489140PEX7c.189-11dup (n.189-11dup)
c.59-6dup
c.75-11dup (n.75-11dup)
c.189-6dup (n.189-6dup)
c.69-11dup (n.69-11dup)
 gnomAD v4
6g.136826308delCA2578751735PEX7c.189-11del (n.189-11del)
c.59-6del
c.75-11del (n.75-11del)
c.189-6del (n.189-6del)
c.69-11del (n.69-11del)
6g.136826307T>CCA2680489142PEX7c.189-12T>C (n.189-12T>C)
c.59-7T>C
c.75-12T>C (n.75-12T>C)
c.189-7T>C (n.189-7T>C)
c.69-12T>C (n.69-12T>C)
 gnomAD v4
6g.136826309C>ACA2561301572PEX7c.189-10C>A (n.189-10C>A)
c.59-5C>A
c.75-10C>A (n.75-10C>A)
c.189-5C>A (n.189-5C>A)
c.69-10C>A (n.69-10C>A)
6g.136826309C>TCA2739266174PEX7c.189-10C>T (n.189-10C>T)
c.59-5C>T
c.75-10C>T (n.75-10C>T)
c.189-5C>T (n.189-5C>T)
c.69-10C>T (n.69-10C>T)
 ClinVar
6g.136826310C>TCA570744349PEX7c.189-9C>T (n.189-9C>T)
c.59-4C>T
c.75-9C>T (n.75-9C>T)
c.189-4C>T (n.189-4C>T)
c.69-9C>T (n.69-9C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136826311T>ACA2573140627PEX7c.189-8T>A (n.189-8T>A)
c.59-3T>A
c.75-8T>A (n.75-8T>A)
c.189-3T>A (n.189-3T>A)
c.69-8T>A (n.69-8T>A)
 ClinVar dbSNP
6g.136826312A>GCA452375568PEX7c.189-7A>G (n.189-7A>G)
c.59-2A>G
c.75-7A>G (n.75-7A>G)
c.189-2A>G (n.189-2A>G)
c.69-7A>G (n.69-7A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.136826313G>ACA2680489146PEX7c.189-6G>A (n.189-6G>A)
c.59-1G>A
c.75-6G>A (n.75-6G>A)
c.189-1G>A (n.189-1G>A)
c.69-6G>A (n.69-6G>A)
 gnomAD v4
6g.136826314T>CCA2680489147PEX7c.189-5T>C (n.189-5T>C)
c.59T>C
c.75-5T>C (n.75-5T>C)
c.189T>C (p.Ser63=)
c.69-5T>C (n.69-5T>C)
 gnomAD v4
6g.136826314T>GCA4017525PEX7c.189-5T>G (n.189-5T>G)
c.59T>G
c.75-5T>G (n.75-5T>G)
c.189T>G (p.Ser63Arg)
c.69-5T>G (n.69-5T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826315G>ACA2580075088PEX7c.189-4G>A (n.189-4G>A)
c.60G>A
c.75-4G>A (n.75-4G>A)
c.190G>A (p.Val64Ile)
c.69-4G>A (n.69-4G>A)
 ClinVar dbSNP gnomAD v4
6g.136826317A>CCA365855704PEX7c.189-2A>C (n.189-2A>C)
c.62A>C
c.75-2A>C (n.75-2A>C)
c.192A>C (p.Val64=)
c.69-2A>C (n.69-2A>C)
6g.136826317A>GCA365855702PEX7c.189-2A>G (n.189-2A>G)
c.62A>G
c.75-2A>G (n.75-2A>G)
c.192A>G (p.Val64=)
c.69-2A>G (n.69-2A>G)
 ClinVar dbSNP gnomAD v4
6g.136826317A>TCA365855703PEX7c.189-2A>T (n.189-2A>T)
c.62A>T
c.75-2A>T (n.75-2A>T)
c.192A>T (p.Val64=)
c.69-2A>T (n.69-2A>T)
6g.136826318G>ACA365855705PEX7c.189-1G>A (n.189-1G>A)
c.63G>A
c.75-1G>A (n.75-1G>A)
c.193G>A (p.Ala65Thr)
c.69-1G>A (n.69-1G>A)
6g.136826318G>CCA365855706PEX7c.189-1G>C (n.189-1G>C)
c.63G>C
c.75-1G>C (n.75-1G>C)
c.193G>C (p.Ala65Pro)
c.69-1G>C (n.69-1G>C)
6g.136826318G>TCA365855707PEX7c.189-1G>T (n.189-1G>T)
c.63G>T
c.75-1G>T (n.75-1G>T)
c.193G>T (p.Ala65Ser)
c.69-1G>T (n.69-1G>T)
6g.136826319C>ACA365855708PEX7c.189C>A (p.Ser63Arg)
c.64C>A
c.75C>A (p.Ser25Arg)
c.194C>A (p.Ala65Asp)
c.69C>A (p.Ser23Arg)
 gnomAD v4
6g.136826319C>GCA365855709PEX7c.189C>G (p.Ser63Arg)
c.64C>G
c.75C>G (p.Ser25Arg)
c.194C>G (p.Ala65Gly)
c.69C>G (p.Ser23Arg)
6g.136826319C>TCA452376232PEX7c.189C>T (p.Ser63=)
c.64C>T
c.75C>T (p.Ser25=)
c.194C>T (p.Ala65Val)
c.69C>T (p.Ser23=)
6g.136826320T>ACA365855710PEX7c.190T>A (p.Phe64Ile)
c.65T>A
c.76T>A (p.Phe26Ile)
c.195T>A (p.Ala65=)
c.70T>A (p.Phe24Ile)
6g.136826320T>CCA365855711PEX7c.190T>C (p.Phe64Leu)
c.65T>C
c.76T>C (p.Phe26Leu)
c.195T>C (p.Ala65=)
c.70T>C (p.Phe24Leu)
6g.136826320T>GCA365855712PEX7c.190T>G (p.Phe64Val)
c.65T>G
c.76T>G (p.Phe26Val)
c.195T>G (p.Ala65=)
c.70T>G (p.Phe24Val)
6g.136826322delCA915940607PEX7c.192del (p.Phe64LeufsTer10)
c.67del
c.78del (p.Phe26LeufsTer10)
c.197del (p.Leu66Ter)
c.72del (p.Phe24LeufsTer10)
6g.136826321T>ACA365855713PEX7c.191T>A (p.Phe64Tyr)
c.66T>A
c.77T>A (p.Phe26Tyr)
c.196T>A (p.Leu66Met)
c.71T>A (p.Phe24Tyr)
6g.136826321T>CCA365855714PEX7c.191T>C (p.Phe64Ser)
c.66T>C
c.77T>C (p.Phe26Ser)
c.196T>C (p.Leu66=)
c.71T>C (p.Phe24Ser)
6g.136826321T>GCA365855715PEX7c.191T>G (p.Phe64Cys)
c.66T>G
c.77T>G (p.Phe26Cys)
c.196T>G (p.Leu66Val)
c.71T>G (p.Phe24Cys)
6g.136826322T>ACA365855716PEX7c.192T>A (p.Phe64Leu)
c.67T>A
c.78T>A (p.Phe26Leu)
c.197T>A (p.Leu66Ter)
c.72T>A (p.Phe24Leu)
6g.136826322T>CCA452376248PEX7c.192T>C (p.Phe64=)
c.67T>C
c.78T>C (p.Phe26=)
c.197T>C (p.Leu66Ser)
c.72T>C (p.Phe24=)
6g.136826322T>GCA365855717PEX7c.192T>G (p.Phe64Leu)
c.67T>G
c.78T>G (p.Phe26Leu)
c.197T>G (p.Leu66Trp)
c.72T>G (p.Phe24Leu)
6g.136826323G>ACA365855718PEX7c.193G>A (p.Asp65Asn)
c.68G>A
c.79G>A (p.Asp27Asn)
c.198G>A (p.Leu66=)
c.73G>A (p.Asp25Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826323G>CCA365855719PEX7c.193G>C (p.Asp65His)
c.68G>C
c.79G>C (p.Asp27His)
c.198G>C (p.Leu66Phe)
c.73G>C (p.Asp25His)
6g.136826323G>TCA365855720PEX7c.193G>T (p.Asp65Tyr)
c.68G>T
c.79G>T (p.Asp27Tyr)
c.198G>T (p.Leu66Phe)
c.73G>T (p.Asp25Tyr)
 dbSNP gnomAD v4
6g.136826324A>CCA365855721PEX7c.194A>C (p.Asp65Ala)
c.69A>C
c.80A>C (p.Asp27Ala)
c.199A>C (p.Thr67Pro)
c.74A>C (p.Asp25Ala)
6g.136826324A>GCA365855722PEX7c.194A>G (p.Asp65Gly)
c.69A>G
c.80A>G (p.Asp27Gly)
c.199A>G (p.Thr67Ala)
c.74A>G (p.Asp25Gly)
6g.136826324A>TCA365855723PEX7c.194A>T (p.Asp65Val)
c.69A>T
c.80A>T (p.Asp27Val)
c.199A>T (p.Thr67Ser)
c.74A>T (p.Asp25Val)
6g.136826325C>ACA365855724PEX7c.195C>A (p.Asp65Glu)
c.70C>A
c.81C>A (p.Asp27Glu)
c.200C>A (p.Thr67Asn)
c.75C>A (p.Asp25Glu)
6g.136826325C>GCA365855725PEX7c.195C>G (p.Asp65Glu)
c.70C>G
c.81C>G (p.Asp27Glu)
c.200C>G (p.Thr67Ser)
c.75C>G (p.Asp25Glu)
 ClinVar dbSNP gnomAD v4
6g.136826325C>TCA452376279PEX7c.195C>T (p.Asp65=)
c.70C>T
c.81C>T (p.Asp27=)
c.200C>T (p.Thr67Ile)
c.75C>T (p.Asp25=)
6g.136826325_136826326delCA2695207124PEX7c.195_196del (p.Asp65GlufsTer3)
c.70_71del
c.81_82del (p.Asp27GlufsTer3)
c.200_201del (p.Thr67ArgfsTer?)
c.75_76del (p.Asp25GlufsTer3)
6g.136826326T>ACA365855726PEX7c.196T>A (p.Trp66Arg)
c.71T>A
c.82T>A (p.Trp28Arg)
c.201T>A (p.Thr67=)
c.76T>A (p.Trp26Arg)
6g.136826326T>CCA365855727PEX7c.196T>C (p.Trp66Arg)
c.71T>C
c.82T>C (p.Trp28Arg)
c.201T>C (p.Thr67=)
c.76T>C (p.Trp26Arg)
6g.136826326T>GCA365855728PEX7c.196T>G (p.Trp66Gly)
c.71T>G
c.82T>G (p.Trp28Gly)
c.201T>G (p.Thr67=)
c.76T>G (p.Trp26Gly)
6g.136826327G>ACA365855731PEX7c.197G>A (p.Trp66Ter)
c.72G>A
c.83G>A (p.Trp28Ter)
c.202G>A (p.Gly68Arg)
c.77G>A (p.Trp26Ter)
6g.136826327G>CCA365855730PEX7c.197G>C (p.Trp66Ser)
c.72G>C
c.83G>C (p.Trp28Ser)
c.202G>C (p.Gly68Arg)
c.77G>C (p.Trp26Ser)
6g.136826327G>TCA365855729PEX7c.197G>T (p.Trp66Leu)
c.72G>T
c.83G>T (p.Trp28Leu)
c.202G>T (p.Gly68Ter)
c.77G>T (p.Trp26Leu)
6g.136826328G>ACA4017526PEX7c.198G>A (p.Trp66Ter)
c.73G>A
c.84G>A (p.Trp28Ter)
c.203G>A (p.Gly68Glu)
c.78G>A (p.Trp26Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826328G>CCA365855732PEX7c.198G>C (p.Trp66Cys)
c.73G>C
c.84G>C (p.Trp28Cys)
c.203G>C (p.Gly68Ala)
c.78G>C (p.Trp26Cys)
6g.136826328G>TCA365855733PEX7c.198G>T (p.Trp66Cys)
c.73G>T
c.84G>T (p.Trp28Cys)
c.203G>T (p.Gly68Val)
c.78G>T (p.Trp26Cys)
 gnomAD v4
6g.136826329A>CCA4017527PEX7c.199A>C (p.Asn67His)
c.74A>C
c.85A>C (p.Asn29His)
c.204A>C (p.Gly68=)
c.79A>C (p.Asn27His)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826329A>GCA365855734PEX7c.199A>G (p.Asn67Asp)
c.74A>G
c.85A>G (p.Asn29Asp)
c.204A>G (p.Gly68=)
c.79A>G (p.Asn27Asp)
 gnomAD v4
6g.136826329A>TCA365855735PEX7c.199A>T (p.Asn67Tyr)
c.74A>T
c.85A>T (p.Asn29Tyr)
c.204A>T (p.Gly68=)
c.79A>T (p.Asn27Tyr)
6g.136826330A>CCA365855736PEX7c.200A>C (p.Asn67Thr)
c.75A>C
c.86A>C (p.Asn29Thr)
c.205A>C (p.Met69Leu)
c.80A>C (p.Asn27Thr)
6g.136826330A>GCA365855737PEX7c.200A>G (p.Asn67Ser)
c.75A>G
c.86A>G (p.Asn29Ser)
c.205A>G (p.Met69Val)
c.80A>G (p.Asn27Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.136826330A>TCA365855738PEX7c.200A>T (p.Asn67Ile)
c.75A>T
c.86A>T (p.Asn29Ile)
c.205A>T (p.Met69Leu)
c.80A>T (p.Asn27Ile)
6g.136826331T>ACA365855739PEX7c.201T>A (p.Asn67Lys)
c.76T>A
c.87T>A (p.Asn29Lys)
c.206T>A (p.Met69Lys)
c.81T>A (p.Asn27Lys)
6g.136826331T>CCA452376311PEX7c.201T>C (p.Asn67=)
c.76T>C
c.87T>C (p.Asn29=)
c.206T>C (p.Met69Thr)
c.81T>C (p.Asn27=)
 ClinVar
6g.136826331T>GCA365855740PEX7c.201T>G (p.Asn67Lys)
c.76T>G
c.87T>G (p.Asn29Lys)
c.206T>G (p.Met69Arg)
c.81T>G (p.Asn27Lys)
6g.136826332G>ACA365855743PEX7c.202G>A (p.Asp68Asn)
c.77G>A
c.88G>A (p.Asp30Asn)
c.207G>A (p.Met69Ile)
c.82G>A (p.Asp28Asn)
 gnomAD v4
6g.136826332G>CCA365855742PEX7c.202G>C (p.Asp68His)
c.77G>C
c.88G>C (p.Asp30His)
c.207G>C (p.Met69Ile)
c.82G>C (p.Asp28His)
6g.136826332G>TCA365855741PEX7c.202G>T (p.Asp68Tyr)
c.77G>T
c.88G>T (p.Asp30Tyr)
c.207G>T (p.Met69Ile)
c.82G>T (p.Asp28Tyr)
6g.136826333A>CCA365855744PEX7c.203A>C (p.Asp68Ala)
c.78A>C
c.89A>C (p.Asp30Ala)
c.208A>C (p.Met70Leu)
c.83A>C (p.Asp28Ala)
6g.136826333A>GCA365855745PEX7c.203A>G (p.Asp68Gly)
c.78A>G
c.89A>G (p.Asp30Gly)
c.208A>G (p.Met70Val)
c.83A>G (p.Asp28Gly)
6g.136826333A>TCA4017528PEX7c.203A>T (p.Asp68Val)
c.78A>T
c.89A>T (p.Asp30Val)
c.208A>T (p.Met70Leu)
c.83A>T (p.Asp28Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826334T>ACA365855746PEX7c.204T>A (p.Asp68Glu)
c.79T>A
c.90T>A (p.Asp30Glu)
c.209T>A (p.Met70Lys)
c.84T>A (p.Asp28Glu)
6g.136826334T>CCA452376329PEX7c.204T>C (p.Asp68=)
c.79T>C
c.90T>C (p.Asp30=)
c.209T>C (p.Met70Thr)
c.84T>C (p.Asp28=)
6g.136826334T>GCA365855747PEX7c.204T>G (p.Asp68Glu)
c.79T>G
c.90T>G (p.Asp30Glu)
c.209T>G (p.Met70Arg)
c.84T>G (p.Asp28Glu)
6g.136826335G>ACA365855748PEX7c.205G>A (p.Gly69Ser)
c.80G>A
c.91G>A (p.Gly31Ser)
c.210G>A (p.Met70Ile)
c.85G>A (p.Gly29Ser)
6g.136826335G>CCA365855749PEX7c.205G>C (p.Gly69Arg)
c.80G>C
c.91G>C (p.Gly31Arg)
c.210G>C (p.Met70Ile)
c.85G>C (p.Gly29Arg)
6g.136826335G>TCA365855750PEX7c.205G>T (p.Gly69Cys)
c.80G>T
c.91G>T (p.Gly31Cys)
c.210G>T (p.Met70Ile)
c.85G>T (p.Gly29Cys)
6g.136826336delCA2580075089PEX7c.206del (p.Gly69ValfsTer5)
c.81del
c.92del (p.Gly31ValfsTer5)
c.211del (p.Val71PhefsTer3)
c.86del (p.Gly29ValfsTer5)
 ClinVar
6g.136826336G>ACA365855751PEX7c.206G>A (p.Gly69Asp)
c.81G>A
c.92G>A (p.Gly31Asp)
c.211G>A (p.Val71Ile)
c.86G>A (p.Gly29Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.136826336G>CCA365855752PEX7c.206G>C (p.Gly69Ala)
c.81G>C
c.92G>C (p.Gly31Ala)
c.211G>C (p.Val71Leu)
c.86G>C (p.Gly29Ala)
6g.136826336G>TCA365855753PEX7c.206G>T (p.Gly69Val)
c.81G>T
c.92G>T (p.Gly31Val)
c.211G>T (p.Val71Phe)
c.86G>T (p.Gly29Val)
6g.136826337T>ACA452376342PEX7c.207T>A (p.Gly69=)
c.82T>A
c.93T>A (p.Gly31=)
c.212T>A (p.Val71Asp)
c.87T>A (p.Gly29=)
6g.136826337T>CCA452376345PEX7c.207T>C (p.Gly69=)
c.82T>C
c.93T>C (p.Gly31=)
c.212T>C (p.Val71Ala)
c.87T>C (p.Gly29=)
6g.136826337T>GCA452376348PEX7c.207T>G (p.Gly69=)
c.82T>G
c.93T>G (p.Gly31=)
c.212T>G (p.Val71Gly)
c.87T>G (p.Gly29=)
6g.136826338T>ACA365855754PEX7c.208T>A (p.Leu70Met)
c.83T>A
c.94T>A (p.Leu32Met)
c.213T>A (p.Val71=)
c.88T>A (p.Leu30Met)
6g.136826338T>CCA452376352PEX7c.208T>C (p.Leu70=)
c.83T>C
c.94T>C (p.Leu32=)
c.213T>C (p.Val71=)
c.88T>C (p.Leu30=)
 ClinVar dbSNP
6g.136826338T>GCA365855755PEX7c.208T>G (p.Leu70Val)
c.83T>G
c.94T>G (p.Leu32Val)
c.213T>G (p.Val71=)
c.88T>G (p.Leu30Val)
 dbSNP
6g.136826339T>ACA365855757PEX7c.209T>A (p.Leu70Ter)
c.84T>A
c.95T>A (p.Leu32Ter)
c.214T>A (p.Cys72Ser)
c.89T>A (p.Leu30Ter)
6g.136826339T>CCA365855758PEX7c.209T>C (p.Leu70Ser)
c.84T>C
c.95T>C (p.Leu32Ser)
c.214T>C (p.Cys72Arg)
c.89T>C (p.Leu30Ser)
6g.136826339T>GCA365855756PEX7c.209T>G (p.Leu70Trp)
c.84T>G
c.95T>G (p.Leu32Trp)
c.214T>G (p.Cys72Gly)
c.89T>G (p.Leu30Trp)
 ClinVar dbSNP gnomAD v4
6g.136826340G>ACA452376361PEX7c.210G>A (p.Leu70=)
c.85G>A
c.96G>A (p.Leu32=)
c.215G>A (p.Cys72Tyr)
c.90G>A (p.Leu30=)
6g.136826340G>CCA365855759PEX7c.210G>C (p.Leu70Phe)
c.85G>C
c.96G>C (p.Leu32Phe)
c.215G>C (p.Cys72Ser)
c.90G>C (p.Leu30Phe)
 COSMIC
6g.136826340G>TCA148641168PEX7c.210G>T (p.Leu70Phe)
c.85G>T
c.96G>T (p.Leu32Phe)
c.215G>T (p.Cys72Phe)
c.90G>T (p.Leu30Phe)
 dbSNP
6g.136826341T>ACA365855760PEX7c.211T>A (p.Phe71Ile)
c.86T>A
c.97T>A (p.Phe33Ile)
c.216T>A (p.Cys72Ter)
c.91T>A (p.Phe31Ile)
6g.136826341T>CCA365855761PEX7c.211T>C (p.Phe71Leu)
c.86T>C
c.97T>C (p.Phe33Leu)
c.216T>C (p.Cys72=)
c.91T>C (p.Phe31Leu)
6g.136826341T>GCA365855762PEX7c.211T>G (p.Phe71Val)
c.86T>G
c.97T>G (p.Phe33Val)
c.216T>G (p.Cys72Trp)
c.91T>G (p.Phe31Val)
6g.136826343delCA570744614PEX7c.213del (p.Phe71LeufsTer3)
c.88del
c.99del (p.Phe33LeufsTer3)
c.218del (p.Leu73Ter)
c.93del (p.Phe31LeufsTer3)
 ClinVar dbSNP gnomAD v2
6g.136826342T>ACA365855763PEX7c.212T>A (p.Phe71Tyr)
c.87T>A
c.98T>A (p.Phe33Tyr)
c.217T>A (p.Leu73Met)
c.92T>A (p.Phe31Tyr)
6g.136826342T>CCA148641169PEX7c.212T>C (p.Phe71Ser)
c.87T>C
c.98T>C (p.Phe33Ser)
c.217T>C (p.Leu73=)
c.92T>C (p.Phe31Ser)
 ClinVar dbSNP gnomAD v2
6g.136826342T>GCA365855764PEX7c.212T>G (p.Phe71Cys)
c.87T>G
c.98T>G (p.Phe33Cys)
c.217T>G (p.Leu73Val)
c.92T>G (p.Phe31Cys)
6g.136826343T>ACA365855765PEX7c.213T>A (p.Phe71Leu)
c.88T>A
c.99T>A (p.Phe33Leu)
c.218T>A (p.Leu73Ter)
c.93T>A (p.Phe31Leu)
6g.136826343T>CCA452376384PEX7c.213T>C (p.Phe71=)
c.88T>C
c.99T>C (p.Phe33=)
c.218T>C (p.Leu73Ser)
c.93T>C (p.Phe31=)
6g.136826343T>GCA365855766PEX7c.213T>G (p.Phe71Leu)
c.88T>G
c.99T>G (p.Phe33Leu)
c.218T>G (p.Leu73Trp)
c.93T>G (p.Phe31Leu)
6g.136826344G>ACA365855767PEX7c.214G>A (p.Asp72Asn)
c.89G>A
c.100G>A (p.Asp34Asn)
c.219G>A (p.Leu73=)
c.94G>A (p.Asp32Asn)
 dbSNP gnomAD v4
6g.136826344G>CCA365855768PEX7c.214G>C (p.Asp72His)
c.89G>C
c.100G>C (p.Asp34His)
c.219G>C (p.Leu73Phe)
c.94G>C (p.Asp32His)
6g.136826344G>TCA365855769PEX7c.214G>T (p.Asp72Tyr)
c.89G>T
c.100G>T (p.Asp34Tyr)
c.219G>T (p.Leu73Phe)
c.94G>T (p.Asp32Tyr)
 gnomAD v4
6g.136826345A>CCA365855772PEX7c.215A>C (p.Asp72Ala)
c.90A>C
c.101A>C (p.Asp34Ala)
c.220A>C (p.Met74Leu)
c.95A>C (p.Asp32Ala)
6g.136826345A>GCA365855771PEX7c.215A>G (p.Asp72Gly)
c.90A>G
c.101A>G (p.Asp34Gly)
c.220A>G (p.Met74Val)
c.95A>G (p.Asp32Gly)
6g.136826345A>TCA365855770PEX7c.215A>T (p.Asp72Val)
c.90A>T
c.101A>T (p.Asp34Val)
c.220A>T (p.Met74Leu)
c.95A>T (p.Asp32Val)
 gnomAD v4
6g.136826346T>ACA365855773PEX7c.216T>A (p.Asp72Glu)
c.91T>A
c.102T>A (p.Asp34Glu)
c.221T>A (p.Met74Lys)
c.96T>A (p.Asp32Glu)
 gnomAD v4
6g.136826346T>CCA452376402PEX7c.216T>C (p.Asp72=)
c.91T>C
c.102T>C (p.Asp34=)
c.221T>C (p.Met74Thr)
c.96T>C (p.Asp32=)
 ClinVar dbSNP gnomAD v4
6g.136826346T>GCA365855774PEX7c.216T>G (p.Asp72Glu)
c.91T>G
c.102T>G (p.Asp34Glu)
c.221T>G (p.Met74Arg)
c.96T>G (p.Asp32Glu)
6g.136826347G>ACA4017529PEX7c.217G>A (p.Val73Met)
c.92G>A
c.103G>A (p.Val35Met)
c.222G>A (p.Met74Ile)
c.97G>A (p.Val33Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.136826347G>CCA365855775PEX7c.217G>C (p.Val73Leu)
c.92G>C
c.103G>C (p.Val35Leu)
c.222G>C (p.Met74Ile)
c.97G>C (p.Val33Leu)
6g.136826347G>TCA365855776PEX7c.217G>T (p.Val73Leu)
c.92G>T
c.103G>T (p.Val35Leu)
c.222G>T (p.Met74Ile)
c.97G>T (p.Val33Leu)
6g.136826348T>ACA365855777PEX7c.218T>A (p.Val73Glu)
c.93T>A
c.104T>A (p.Val35Glu)
c.223T>A (p.Ter75Arg)
c.98T>A (p.Val33Glu)
6g.136826348T>CCA365855778PEX7c.218T>C (p.Val73Ala)
c.93T>C
c.104T>C (p.Val35Ala)
c.223T>C (p.Ter75Arg)
c.98T>C (p.Val33Ala)
6g.136826348T>GCA365855779PEX7c.218T>G (p.Val73Gly)
c.93T>G
c.104T>G (p.Val35Gly)
c.223T>G (p.Ter75Gly)
c.98T>G (p.Val33Gly)
6g.136826349G>ACA452376423PEX7c.219G>A (p.Val73=)
c.94G>A
c.105G>A (p.Val35=)
c.224G>A (p.Ter75=)
c.99G>A (p.Val33=)
 COSMIC
6g.136826349G>CCA452376420PEX7c.219G>C (p.Val73=)
c.94G>C
c.105G>C (p.Val35=)
c.224G>C (p.Ter75Ser)
c.99G>C (p.Val33=)
6g.136826349G>TCA452376417PEX7c.219G>T (p.Val73=)
c.94G>T
c.105G>T (p.Val35=)
c.224G>T (p.Ter75Leu)
c.99G>T (p.Val33=)
 gnomAD v4
6g.136826350A>CCA365855780PEX7c.220A>C (p.Thr74Pro)
c.95A>C
c.106A>C (p.Thr36Pro)
c.225A>C (p.Ter75Cys)
c.100A>C (p.Thr34Pro)
6g.136826350A>GCA365855781PEX7c.220A>G (p.Thr74Ala)
c.95A>G
c.106A>G (p.Thr36Ala)
c.225A>G (p.Ter75Trp)
c.100A>G (p.Thr34Ala)
6g.136826350A>TCA365855782PEX7c.220A>T (p.Thr74Ser)
c.95A>T
c.106A>T (p.Thr36Ser)
c.225A>T (p.Ter75Cys)
c.100A>T (p.Thr34Ser)
6g.136826351C>ACA365855783PEX7c.221C>A (p.Thr74Asn)
c.96C>A
c.107C>A (p.Thr36Asn)
c.226C>A (n.226C>A)
c.101C>A (p.Thr34Asn)
6g.136826351C>GCA365855784PEX7c.221C>G (p.Thr74Ser)
c.96C>G
c.107C>G (p.Thr36Ser)
c.226C>G (n.226C>G)
c.101C>G (p.Thr34Ser)
6g.136826351C>TCA365855785PEX7c.221C>T (p.Thr74Ile)
c.96C>T
c.107C>T (p.Thr36Ile)
c.226C>T (n.226C>T)
c.101C>T (p.Thr34Ile)
 gnomAD v4
6g.136826352T>ACA452376445PEX7c.222T>A (p.Thr74=)
c.97T>A
c.108T>A (p.Thr36=)
c.227T>A (n.227T>A)
c.102T>A (p.Thr34=)
6g.136826352T>CCA452376446PEX7c.222T>C (p.Thr74=)
c.97T>C
c.108T>C (p.Thr36=)
c.227T>C (n.227T>C)
c.102T>C (p.Thr34=)
6g.136826352T>GCA452376448PEX7c.222T>G (p.Thr74=)
c.97T>G
c.108T>G (p.Thr36=)
c.227T>G (n.227T>G)
c.102T>G (p.Thr34=)
 gnomAD v4
6g.136826353T>ACA365855787PEX7c.223T>A (p.Trp75Arg)
c.98T>A
c.109T>A (p.Trp37Arg)
c.228T>A (n.228T>A)
c.103T>A (p.Trp35Arg)
6g.136826353T>CCA365855788PEX7c.223T>C (p.Trp75Arg)
c.98T>C
c.109T>C (p.Trp37Arg)
c.228T>C (n.228T>C)
c.103T>C (p.Trp35Arg)
6g.136826353T>GCA365855786PEX7c.223T>G (p.Trp75Gly)
c.98T>G
c.109T>G (p.Trp37Gly)
c.228T>G (n.228T>G)
c.103T>G (p.Trp35Gly)
6g.136826354G>ACA365855789PEX7c.224G>A (p.Trp75Ter)
c.99G>A
c.110G>A (p.Trp37Ter)
c.229G>A (n.229G>A)
c.104G>A (p.Trp35Ter)
 ClinVar
6g.136826354G>CCA365855790PEX7c.224G>C (p.Trp75Ser)
c.99G>C
c.110G>C (p.Trp37Ser)
c.229G>C (n.229G>C)
c.104G>C (p.Trp35Ser)
6g.136826354G>TCA365855791PEX7c.224G>T (p.Trp75Leu)
c.99G>T
c.110G>T (p.Trp37Leu)
c.229G>T (n.229G>T)
c.104G>T (p.Trp35Leu)
6g.136826355G>ACA365855792PEX7c.225G>A (p.Trp75Ter)
c.100G>A
c.111G>A (p.Trp37Ter)
c.230G>A (n.230G>A)
c.105G>A (p.Trp35Ter)
6g.136826355G>CCA365855793PEX7c.225G>C (p.Trp75Cys)
c.100G>C
c.111G>C (p.Trp37Cys)
c.230G>C (n.230G>C)
c.105G>C (p.Trp35Cys)
 ClinVar dbSNP gnomAD v4
6g.136826355G>TCA365855794PEX7c.225G>T (p.Trp75Cys)
c.100G>T
c.111G>T (p.Trp37Cys)
c.230G>T (n.230G>T)
c.105G>T (p.Trp35Cys)
6g.136826356A>CCA365855797PEX7c.226A>C (p.Ser76Arg)
c.101A>C
c.112A>C (p.Ser38Arg)
c.231A>C (n.231A>C)
c.106A>C (p.Ser36Arg)
6g.136826356A>GCA365855795PEX7c.226A>G (p.Ser76Gly)
c.101A>G
c.112A>G (p.Ser38Gly)
c.231A>G (n.231A>G)
c.106A>G (p.Ser36Gly)
6g.136826356A>TCA365855796PEX7c.226A>T (p.Ser76Cys)
c.101A>T
c.112A>T (p.Ser38Cys)
c.231A>T (n.231A>T)
c.106A>T (p.Ser36Cys)
6g.136826357G>ACA365855798PEX7c.227G>A (p.Ser76Asn)
c.102G>A
c.113G>A (p.Ser38Asn)
c.232G>A (n.232G>A)
c.107G>A (p.Ser36Asn)
6g.136826357G>CCA365855799PEX7c.227G>C (p.Ser76Thr)
c.102G>C
c.113G>C (p.Ser38Thr)
c.232G>C (n.232G>C)
c.107G>C (p.Ser36Thr)
6g.136826357G>TCA365855800PEX7c.227G>T (p.Ser76Ile)
c.102G>T
c.113G>T (p.Ser38Ile)
c.232G>T (n.232G>T)
c.107G>T (p.Ser36Ile)
6g.136826358T>ACA365855801PEX7c.228T>A (p.Ser76Arg)
c.103T>A
c.114T>A (p.Ser38Arg)
c.233T>A (n.233T>A)
c.108T>A (p.Ser36Arg)
6g.136826358T>CCA452376481PEX7c.228T>C (p.Ser76=)
c.103T>C
c.114T>C (p.Ser38=)
c.233T>C (n.233T>C)
c.108T>C (p.Ser36=)
6g.136826358T>GCA365855802PEX7c.228T>G (p.Ser76Arg)
c.103T>G
c.114T>G (p.Ser38Arg)
c.233T>G (n.233T>G)
c.108T>G (p.Ser36Arg)
6g.136826359G>ACA365855803PEX7c.229G>A (p.Glu77Lys)
c.104G>A
c.115G>A (p.Glu39Lys)
c.234G>A (n.234G>A)
c.109G>A (p.Glu37Lys)
6g.136826359G>CCA365855805PEX7c.229G>C (p.Glu77Gln)
c.104G>C
c.115G>C (p.Glu39Gln)
c.234G>C (n.234G>C)
c.109G>C (p.Glu37Gln)
6g.136826359G>TCA365855804PEX7c.229G>T (p.Glu77Ter)
c.104G>T
c.115G>T (p.Glu39Ter)
c.234G>T (n.234G>T)
c.109G>T (p.Glu37Ter)
6g.136826360A>CCA365855806PEX7c.230A>C (p.Glu77Ala)
c.105A>C
c.116A>C (p.Glu39Ala)
c.235A>C (n.235A>C)
c.110A>C (p.Glu37Ala)
6g.136826360A>GCA365855807PEX7c.230A>G (p.Glu77Gly)
c.105A>G
c.116A>G (p.Glu39Gly)
c.235A>G (n.235A>G)
c.110A>G (p.Glu37Gly)
 gnomAD v4
6g.136826360A>TCA4017530PEX7c.230A>T (p.Glu77Val)
c.105A>T
c.116A>T (p.Glu39Val)
c.235A>T (n.235A>T)
c.110A>T (p.Glu37Val)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched