Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.136826381T>ACA365855851PEX7c.251T>A (p.Ile84Asn)
c.126T>A
c.137T>A (p.Ile46Asn)
c.256T>A (n.256T>A)
c.131T>A (p.Ile44Asn)
6g.136826381T>CCA365855852PEX7c.251T>C (p.Ile84Thr)
c.126T>C
c.137T>C (p.Ile46Thr)
c.256T>C (n.256T>C)
c.131T>C (p.Ile44Thr)
6g.136826381T>GCA365855853PEX7c.251T>G (p.Ile84Ser)
c.126T>G
c.137T>G (p.Ile46Ser)
c.256T>G (n.256T>G)
c.131T>G (p.Ile44Ser)
6g.136826382C>ACA452376629PEX7c.252C>A (p.Ile84=)
c.127C>A
c.138C>A (p.Ile46=)
c.257C>A (n.257C>A)
c.132C>A (p.Ile44=)
6g.136826382C>GCA365855854PEX7c.252C>G (p.Ile84Met)
c.127C>G
c.138C>G (p.Ile46Met)
c.257C>G (n.257C>G)
c.132C>G (p.Ile44Met)
6g.136826382C>TCA4017538PEX7c.252C>T (p.Ile84=)
c.127C>T
c.138C>T (p.Ile46=)
c.257C>T (n.257C>T)
c.132C>T (p.Ile44=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826383A>CCA365855856PEX7c.253A>C (p.Thr85Pro)
c.128A>C
c.139A>C (p.Thr47Pro)
c.258A>C (n.258A>C)
c.133A>C (p.Thr45Pro)
6g.136826383A>GCA4017539PEX7c.253A>G (p.Thr85Ala)
c.128A>G
c.139A>G (p.Thr47Ala)
c.258A>G (n.258A>G)
c.133A>G (p.Thr45Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826383A>TCA365855855PEX7c.253A>T (p.Thr85Ser)
c.128A>T
c.139A>T (p.Thr47Ser)
c.258A>T (n.258A>T)
c.133A>T (p.Thr45Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.136826384C>ACA365855857PEX7c.254C>A (p.Thr85Asn)
c.129C>A
c.140C>A (p.Thr47Asn)
c.259C>A (n.259C>A)
c.134C>A (p.Thr45Asn)
6g.136826384C>GCA365855858PEX7c.254C>G (p.Thr85Ser)
c.129C>G
c.140C>G (p.Thr47Ser)
c.259C>G (n.259C>G)
c.134C>G (p.Thr45Ser)
6g.136826384C>TCA365855859PEX7c.254C>T (p.Thr85Ile)
c.129C>T
c.140C>T (p.Thr47Ile)
c.259C>T (n.259C>T)
c.134C>T (p.Thr45Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.136826385C>ACA452376638PEX7c.255C>A (p.Thr85=)
c.130C>A
c.141C>A (p.Thr47=)
c.260C>A (n.260C>A)
c.135C>A (p.Thr45=)
6g.136826385C>GCA4017540PEX7c.255C>G (p.Thr85=)
c.130C>G
c.141C>G (p.Thr47=)
c.260C>G (n.260C>G)
c.135C>G (p.Thr45=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826385C>TCA452376639PEX7c.255C>T (p.Thr85=)
c.130C>T
c.141C>T (p.Thr47=)
c.260C>T (n.260C>T)
c.135C>T (p.Thr45=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826386T>ACA365855860PEX7c.256T>A (p.Cys86Ser)
c.131T>A
c.142T>A (p.Cys48Ser)
c.261T>A (n.261T>A)
c.136T>A (p.Cys46Ser)
6g.136826386T>CCA365855861PEX7c.256T>C (p.Cys86Arg)
c.131T>C
c.142T>C (p.Cys48Arg)
c.261T>C (n.261T>C)
c.136T>C (p.Cys46Arg)
6g.136826386T>GCA365855862PEX7c.256T>G (p.Cys86Gly)
c.131T>G
c.142T>G (p.Cys48Gly)
c.261T>G (n.261T>G)
c.136T>G (p.Cys46Gly)
6g.136826387G>ACA365855863PEX7c.257G>A (p.Cys86Tyr)
c.132G>A
c.143G>A (p.Cys48Tyr)
c.262G>A (n.262G>A)
c.137G>A (p.Cys46Tyr)
 ClinVar dbSNP
6g.136826387G>CCA365855864PEX7c.257G>C (p.Cys86Ser)
c.132G>C
c.143G>C (p.Cys48Ser)
c.262G>C (n.262G>C)
c.137G>C (p.Cys46Ser)
6g.136826387G>TCA148641172PEX7c.257G>T (p.Cys86Phe)
c.132G>T
c.143G>T (p.Cys48Phe)
c.262G>T (n.262G>T)
c.137G>T (p.Cys46Phe)
 ClinVar dbSNP gnomAD v4
6g.136826388T>ACA365855865PEX7c.258T>A (p.Cys86Ter)
c.133T>A
c.144T>A (p.Cys48Ter)
c.263T>A (n.263T>A)
c.138T>A (p.Cys46Ter)
6g.136826388T>CCA452376645PEX7c.258T>C (p.Cys86=)
c.133T>C
c.144T>C (p.Cys48=)
c.263T>C (n.263T>C)
c.138T>C (p.Cys46=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826388T>GCA365855866PEX7c.258T>G (p.Cys86Trp)
c.133T>G
c.144T>G (p.Cys48Trp)
c.263T>G (n.263T>G)
c.138T>G (p.Cys46Trp)
6g.136826389A>CCA365855869PEX7c.259A>C (p.Ser87Arg)
c.134A>C
c.145A>C (p.Ser49Arg)
c.264A>C (n.264A>C)
c.139A>C (p.Ser47Arg)
6g.136826389A>GCA365855868PEX7c.259A>G (p.Ser87Gly)
c.134A>G
c.145A>G (p.Ser49Gly)
c.264A>G (n.264A>G)
c.139A>G (p.Ser47Gly)
 gnomAD v4 COSMIC COSMIC
6g.136826389A>TCA365855867PEX7c.259A>T (p.Ser87Cys)
c.134A>T
c.145A>T (p.Ser49Cys)
c.264A>T (n.264A>T)
c.139A>T (p.Ser47Cys)
6g.136826390G>ACA365855870PEX7c.260G>A (p.Ser87Asn)
c.135G>A
c.146G>A (p.Ser49Asn)
c.265G>A (n.265G>A)
c.140G>A (p.Ser47Asn)
6g.136826390G>CCA365855871PEX7c.260G>C (p.Ser87Thr)
c.135G>C
c.146G>C (p.Ser49Thr)
c.265G>C (n.265G>C)
c.140G>C (p.Ser47Thr)
6g.136826390G>TCA365855872PEX7c.260G>T (p.Ser87Ile)
c.135G>T
c.146G>T (p.Ser49Ile)
c.265G>T (n.265G>T)
c.140G>T (p.Ser47Ile)
6g.136826391T>ACA365855873PEX7c.261T>A (p.Ser87Arg)
c.136T>A
c.147T>A (p.Ser49Arg)
c.266T>A (n.266T>A)
c.141T>A (p.Ser47Arg)
6g.136826391T>CCA452376657PEX7c.261T>C (p.Ser87=)
c.136T>C
c.147T>C (p.Ser49=)
c.266T>C (n.266T>C)
c.141T>C (p.Ser47=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136826391T>GCA365855874PEX7c.261T>G (p.Ser87Arg)
c.136T>G
c.147T>G (p.Ser49Arg)
c.266T>G (n.266T>G)
c.141T>G (p.Ser47Arg)
6g.136826392G>ACA365855875PEX7c.262G>A (p.Gly88Ser)
c.137G>A
c.148G>A (p.Gly50Ser)
c.267G>A (n.267G>A)
c.142G>A (p.Gly48Ser)
6g.136826392G>CCA365855876PEX7c.262G>C (p.Gly88Arg)
c.137G>C
c.148G>C (p.Gly50Arg)
c.267G>C (n.267G>C)
c.142G>C (p.Gly48Arg)
6g.136826392G>TCA365855877PEX7c.262G>T (p.Gly88Cys)
c.137G>T
c.148G>T (p.Gly50Cys)
c.267G>T (n.267G>T)
c.142G>T (p.Gly48Cys)
6g.136826393G>ACA365855878PEX7c.263G>A (p.Gly88Asp)
c.138G>A
c.149G>A (p.Gly50Asp)
c.268G>A (n.268G>A)
c.143G>A (p.Gly48Asp)
 gnomAD v4
6g.136826393G>CCA365855880PEX7c.263G>C (p.Gly88Ala)
c.138G>C
c.149G>C (p.Gly50Ala)
c.268G>C (n.268G>C)
c.143G>C (p.Gly48Ala)
6g.136826393G>TCA365855879PEX7c.263G>T (p.Gly88Val)
c.138G>T
c.149G>T (p.Gly50Val)
c.268G>T (n.268G>T)
c.143G>T (p.Gly48Val)
6g.136826394C>ACA452376670PEX7c.264C>A (p.Gly88=)
c.139C>A
c.150C>A (p.Gly50=)
c.269C>A (n.269C>A)
c.144C>A (p.Gly48=)
 ClinVar
6g.136826394C>GCA452376673PEX7c.264C>G (p.Gly88=)
c.139C>G
c.150C>G (p.Gly50=)
c.269C>G (n.269C>G)
c.144C>G (p.Gly48=)
6g.136826394C>TCA4017541PEX7c.264C>T (p.Gly88=)
c.139C>T
c.150C>T (p.Gly50=)
c.269C>T (n.269C>T)
c.144C>T (p.Gly48=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.136826395G>ACA4017542PEX7c.265G>A (p.Asp89Asn)
c.140G>A
c.151G>A (p.Asp51Asn)
c.270G>A (n.270G>A)
c.145G>A (p.Asp49Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.136826395G>CCA365855881PEX7c.265G>C (p.Asp89His)
c.140G>C
c.151G>C (p.Asp51His)
c.270G>C (n.270G>C)
c.145G>C (p.Asp49His)
6g.136826395G>TCA365855882PEX7c.265G>T (p.Asp89Tyr)
c.140G>T
c.151G>T (p.Asp51Tyr)
c.270G>T (n.270G>T)
c.145G>T (p.Asp49Tyr)
6g.136826396A>CCA365855883PEX7c.266A>C (p.Asp89Ala)
c.141A>C
c.152A>C (p.Asp51Ala)
c.271A>C (n.271A>C)
c.146A>C (p.Asp49Ala)
6g.136826396A>GCA365855885PEX7c.266A>G (p.Asp89Gly)
c.141A>G
c.152A>G (p.Asp51Gly)
c.271A>G (n.271A>G)
c.146A>G (p.Asp49Gly)
 gnomAD v3 gnomAD v4
6g.136826396A>TCA365855884PEX7c.266A>T (p.Asp89Val)
c.141A>T
c.152A>T (p.Asp51Val)
c.271A>T (n.271A>T)
c.146A>T (p.Asp49Val)
6g.136826397T>ACA365855886PEX7c.267T>A (p.Asp89Glu)
c.142T>A
c.153T>A (p.Asp51Glu)
c.272T>A (n.272T>A)
c.147T>A (p.Asp49Glu)
6g.136826397T>CCA452376690PEX7c.267T>C (p.Asp89=)
c.142T>C
c.153T>C (p.Asp51=)
c.272T>C (n.272T>C)
c.147T>C (p.Asp49=)
6g.136826397T>GCA365855887PEX7c.267T>G (p.Asp89Glu)
c.142T>G
c.153T>G (p.Asp51Glu)
c.272T>G (n.272T>G)
c.147T>G (p.Asp49Glu)
6g.136826398G>ACA365855888PEX7c.268G>A (p.Gly90Ser)
c.143G>A
c.154G>A (p.Gly52Ser)
c.273G>A (n.273G>A)
c.148G>A (p.Gly50Ser)
 gnomAD v4
6g.136826398G>CCA365855889PEX7c.268G>C (p.Gly90Arg)
c.143G>C
c.154G>C (p.Gly52Arg)
c.273G>C (n.273G>C)
c.148G>C (p.Gly50Arg)
6g.136826398G>TCA365855890PEX7c.268G>T (p.Gly90Cys)
c.143G>T
c.154G>T (p.Gly52Cys)
c.273G>T (n.273G>T)
c.148G>T (p.Gly50Cys)
6g.136826399G>ACA365855891PEX7c.269G>A (p.Gly90Asp)
c.144G>A
c.155G>A (p.Gly52Asp)
c.274G>A (n.274G>A)
c.149G>A (p.Gly50Asp)
6g.136826399G>CCA365855892PEX7c.269G>C (p.Gly90Ala)
c.144G>C
c.155G>C (p.Gly52Ala)
c.274G>C (n.274G>C)
c.149G>C (p.Gly50Ala)
6g.136826399G>TCA365855893PEX7c.269G>T (p.Gly90Val)
c.144G>T
c.155G>T (p.Gly52Val)
c.274G>T (n.274G>T)
c.149G>T (p.Gly50Val)
6g.136826400C>ACA452376704PEX7c.270C>A (p.Gly90=)
c.145C>A
c.156C>A (p.Gly52=)
c.275C>A (n.275C>A)
c.150C>A (p.Gly50=)
6g.136826400C>GCA452376709PEX7c.270C>G (p.Gly90=)
c.145C>G
c.156C>G (p.Gly52=)
c.275C>G (n.275C>G)
c.150C>G (p.Gly50=)
6g.136826400C>TCA452376712PEX7c.270C>T (p.Gly90=)
c.145C>T
c.156C>T (p.Gly52=)
c.275C>T (n.275C>T)
c.150C>T (p.Gly50=)
6g.136826401T>ACA365855894PEX7c.271T>A (p.Ser91Thr)
c.146T>A
c.157T>A (p.Ser53Thr)
c.276T>A (n.276T>A)
c.151T>A (p.Ser51Thr)
6g.136826401T>CCA365855895PEX7c.271T>C (p.Ser91Pro)
c.146T>C
c.157T>C (p.Ser53Pro)
c.276T>C (n.276T>C)
c.151T>C (p.Ser51Pro)
6g.136826401T>GCA365855896PEX7c.271T>G (p.Ser91Ala)
c.146T>G
c.157T>G (p.Ser53Ala)
c.276T>G (n.276T>G)
c.151T>G (p.Ser51Ala)
6g.136826402C>ACA365855897PEX7c.272C>A (p.Ser91Ter)
c.147C>A
c.158C>A (p.Ser53Ter)
c.277C>A (n.277C>A)
c.152C>A (p.Ser51Ter)
6g.136826402C>GCA365855898PEX7c.272C>G (p.Ser91Trp)
c.147C>G
c.158C>G (p.Ser53Trp)
c.277C>G (n.277C>G)
c.152C>G (p.Ser51Trp)
 gnomAD v4 COSMIC COSMIC
6g.136826402C>TCA4017543PEX7c.272C>T (p.Ser91Leu)
c.147C>T
c.158C>T (p.Ser53Leu)
c.277C>T (n.277C>T)
c.152C>T (p.Ser51Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826403G>ACA452376725PEX7c.273G>A (p.Ser91=)
c.148G>A
c.159G>A (p.Ser53=)
c.278G>A (n.278G>A)
c.153G>A (p.Ser51=)
 ClinVar dbSNP gnomAD v4
6g.136826403G>CCA4017544PEX7c.273G>C (p.Ser91=)
c.148G>C
c.159G>C (p.Ser53=)
c.278G>C (n.278G>C)
c.153G>C (p.Ser51=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826403G>TCA452376728PEX7c.273G>T (p.Ser91=)
c.148G>T
c.159G>T (p.Ser53=)
c.278G>T (n.278G>T)
c.153G>T (p.Ser51=)
 gnomAD v4
6g.136826404C>ACA365855899PEX7c.274C>A (p.Leu92Met)
c.149C>A
c.160C>A (p.Leu54Met)
c.279C>A (n.279C>A)
c.154C>A (p.Leu52Met)
6g.136826404C>GCA365855900PEX7c.274C>G (p.Leu92Val)
c.149C>G
c.160C>G (p.Leu54Val)
c.279C>G (n.279C>G)
c.154C>G (p.Leu52Val)
6g.136826404C>TCA452376730PEX7c.274C>T (p.Leu92=)
c.149C>T
c.160C>T (p.Leu54=)
c.279C>T (n.279C>T)
c.154C>T (p.Leu52=)
6g.136826405T>ACA365855901PEX7c.275T>A (p.Leu92Gln)
c.150T>A
c.161T>A (p.Leu54Gln)
c.280T>A (n.280T>A)
c.155T>A (p.Leu52Gln)
6g.136826405T>CCA365855902PEX7c.275T>C (p.Leu92Pro)
c.150T>C
c.161T>C (p.Leu54Pro)
c.280T>C (n.280T>C)
c.155T>C (p.Leu52Pro)
 ClinVar gnomAD v4
6g.136826405T>GCA365855903PEX7c.275T>G (p.Leu92Arg)
c.150T>G
c.161T>G (p.Leu54Arg)
c.280T>G (n.280T>G)
c.155T>G (p.Leu52Arg)
6g.136826406G>ACA452376743PEX7c.276G>A (p.Leu92=)
c.151G>A
c.162G>A (p.Leu54=)
c.281G>A (n.281G>A)
c.156G>A (p.Leu52=)
6g.136826406G>CCA452376745PEX7c.276G>C (p.Leu92=)
c.151G>C
c.162G>C (p.Leu54=)
c.281G>C (n.281G>C)
c.156G>C (p.Leu52=)
6g.136826406G>TCA452376747PEX7c.276G>T (p.Leu92=)
c.151G>T
c.162G>T (p.Leu54=)
c.281G>T (n.281G>T)
c.156G>T (p.Leu52=)
6g.136826407C>ACA365855904PEX7c.277C>A (p.Gln93Lys)
c.152C>A
c.163C>A (p.Gln55Lys)
c.282C>A (n.282C>A)
c.157C>A (p.Gln53Lys)
 gnomAD v4
6g.136826407C>GCA365855905PEX7c.277C>G (p.Gln93Glu)
c.152C>G
c.163C>G (p.Gln55Glu)
c.282C>G (n.282C>G)
c.157C>G (p.Gln53Glu)
6g.136826407C>TCA4017545PEX7c.277C>T (p.Gln93Ter)
c.152C>T
c.163C>T (p.Gln55Ter)
c.282C>T (n.282C>T)
c.157C>T (p.Gln53Ter)
 ClinVar dbSNP ExAC
6g.136826408A>CCA365855906PEX7c.278A>C (p.Gln93Pro)
c.153A>C
c.164A>C (p.Gln55Pro)
c.283A>C (n.283A>C)
c.158A>C (p.Gln53Pro)
6g.136826408A>GCA365855907PEX7c.278A>G (p.Gln93Arg)
c.153A>G
c.164A>G (p.Gln55Arg)
c.283A>G (n.283A>G)
c.158A>G (p.Gln53Arg)
 ClinVar
6g.136826408A>TCA365855908PEX7c.278A>T (p.Gln93Leu)
c.153A>T
c.164A>T (p.Gln55Leu)
c.283A>T (n.283A>T)
c.158A>T (p.Gln53Leu)
6g.136826409G>ACA452376758PEX7c.279G>A (p.Gln93=)
c.154G>A
c.165G>A (p.Gln55=)
c.284G>A (n.284G>A)
c.159G>A (p.Gln53=)
 ClinVar
6g.136826409G>CCA365855910PEX7c.279G>C (p.Gln93His)
c.154G>C
c.165G>C (p.Gln55His)
c.284G>C (n.284G>C)
c.159G>C (p.Gln53His)
6g.136826409G>TCA365855909PEX7c.279G>T (p.Gln93His)
c.154G>T
c.165G>T (p.Gln55His)
c.284G>T (n.284G>T)
c.159G>T (p.Gln53His)
6g.136826410C>ACA365855911PEX7c.280C>A (p.Leu94Ile)
c.155C>A
c.166C>A (p.Leu56Ile)
c.285C>A (n.285C>A)
c.160C>A (p.Leu54Ile)
6g.136826410C>GCA365855912PEX7c.280C>G (p.Leu94Val)
c.155C>G
c.166C>G (p.Leu56Val)
c.285C>G (n.285C>G)
c.160C>G (p.Leu54Val)
6g.136826410C>TCA365855913PEX7c.280C>T (p.Leu94Phe)
c.155C>T
c.166C>T (p.Leu56Phe)
c.285C>T (n.285C>T)
c.160C>T (p.Leu54Phe)
6g.136826411T>ACA365855914PEX7c.281T>A (p.Leu94His)
c.156T>A
c.167T>A (p.Leu56His)
c.286T>A (n.286T>A)
c.161T>A (p.Leu54His)
6g.136826411T>CCA365855915PEX7c.281T>C (p.Leu94Pro)
c.156T>C
c.167T>C (p.Leu56Pro)
c.286T>C (n.286T>C)
c.161T>C (p.Leu54Pro)
 gnomAD v4
6g.136826411T>GCA365855916PEX7c.281T>G (p.Leu94Arg)
c.156T>G
c.167T>G (p.Leu56Arg)
c.286T>G (n.286T>G)
c.161T>G (p.Leu54Arg)
6g.136826412C>ACA452376777PEX7c.282C>A (p.Leu94=)
c.157C>A
c.168C>A (p.Leu56=)
c.287C>A (n.287C>A)
c.162C>A (p.Leu54=)
6g.136826412C>GCA452376784PEX7c.282C>G (p.Leu94=)
c.157C>G
c.168C>G (p.Leu56=)
c.287C>G (n.287C>G)
c.162C>G (p.Leu54=)
6g.136826412C>TCA452376787PEX7c.282C>T (p.Leu94=)
c.157C>T
c.168C>T (p.Leu56=)
c.287C>T (n.287C>T)
c.162C>T (p.Leu54=)
6g.136826413_136826418delCA2680488171PEX7c.283_288del (p.Trp95_Asp96del)
c.158_163del
c.169_174del (p.Trp57_Asp58del)
c.288_293del (n.288_293del)
c.163_168del (p.Trp55_Asp56del)
 gnomAD v4
6g.136826413T>ACA365855917PEX7c.283T>A (p.Trp95Arg)
c.158T>A
c.169T>A (p.Trp57Arg)
c.288T>A (n.288T>A)
c.163T>A (p.Trp55Arg)
6g.136826413T>CCA365855918PEX7c.283T>C (p.Trp95Arg)
c.158T>C
c.169T>C (p.Trp57Arg)
c.288T>C (n.288T>C)
c.163T>C (p.Trp55Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.136826413T>GCA365855919PEX7c.283T>G (p.Trp95Gly)
c.158T>G
c.169T>G (p.Trp57Gly)
c.288T>G (n.288T>G)
c.163T>G (p.Trp55Gly)
6g.136826414G>ACA365855920PEX7c.284G>A (p.Trp95Ter)
c.159G>A
c.170G>A (p.Trp57Ter)
c.289G>A (n.289G>A)
c.164G>A (p.Trp55Ter)
 ClinVar
6g.136826414G>CCA365855921PEX7c.284G>C (p.Trp95Ser)
c.159G>C
c.170G>C (p.Trp57Ser)
c.289G>C (n.289G>C)
c.164G>C (p.Trp55Ser)
 dbSNP
6g.136826414G>TCA365855922PEX7c.284G>T (p.Trp95Leu)
c.159G>T
c.170G>T (p.Trp57Leu)
c.289G>T (n.289G>T)
c.164G>T (p.Trp55Leu)
6g.136826415G>ACA365855924PEX7c.285G>A (p.Trp95Ter)
c.160G>A
c.171G>A (p.Trp57Ter)
c.290G>A (n.290G>A)
c.165G>A (p.Trp55Ter)
 dbSNP gnomAD v3 gnomAD v4
6g.136826415G>CCA365855925PEX7c.285G>C (p.Trp95Cys)
c.160G>C
c.171G>C (p.Trp57Cys)
c.290G>C (n.290G>C)
c.165G>C (p.Trp55Cys)
6g.136826415G>TCA365855923PEX7c.285G>T (p.Trp95Cys)
c.160G>T
c.171G>T (p.Trp57Cys)
c.290G>T (n.290G>T)
c.165G>T (p.Trp55Cys)
6g.136826416G>ACA365855927PEX7c.286G>A (p.Asp96Asn)
c.161G>A
c.172G>A (p.Asp58Asn)
c.291G>A (n.291G>A)
c.166G>A (p.Asp56Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136826416G>CCA365855926PEX7c.286G>C (p.Asp96His)
c.161G>C
c.172G>C (p.Asp58His)
c.291G>C (n.291G>C)
c.166G>C (p.Asp56His)
6g.136826416G>TCA365855928PEX7c.286G>T (p.Asp96Tyr)
c.161G>T
c.172G>T (p.Asp58Tyr)
c.291G>T (n.291G>T)
c.166G>T (p.Asp56Tyr)
6g.136826417A>CCA365855929PEX7c.287A>C (p.Asp96Ala)
c.162A>C
c.173A>C (p.Asp58Ala)
c.292A>C (n.292A>C)
c.167A>C (p.Asp56Ala)
6g.136826417A>GCA365855930PEX7c.287A>G (p.Asp96Gly)
c.162A>G
c.173A>G (p.Asp58Gly)
c.292A>G (n.292A>G)
c.167A>G (p.Asp56Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.136826417A>TCA365855931PEX7c.287A>T (p.Asp96Val)
c.162A>T
c.173A>T (p.Asp58Val)
c.292A>T (n.292A>T)
c.167A>T (p.Asp56Val)
6g.136826419_136826420delCA913109585PEX7c.289_290del (p.Thr97CysfsTer11)
c.164_165del
c.175_176del (p.Thr59CysfsTer11)
c.294_295del (n.294_295del)
c.169_170del (p.Thr57CysfsTer11)
 ClinVar
6g.136826418C>ACA365855932PEX7c.288C>A (p.Asp96Glu)
c.163C>A
c.174C>A (p.Asp58Glu)
c.293C>A (n.293C>A)
c.168C>A (p.Asp56Glu)
6g.136826418C>GCA365855933PEX7c.288C>G (p.Asp96Glu)
c.163C>G
c.174C>G (p.Asp58Glu)
c.293C>G (n.293C>G)
c.168C>G (p.Asp56Glu)
 dbSNP gnomAD v2 gnomAD v4
6g.136826418C>TCA452376812PEX7c.288C>T (p.Asp96=)
c.163C>T
c.174C>T (p.Asp58=)
c.293C>T (n.293C>T)
c.168C>T (p.Asp56=)
6g.136826424_136826443dupCA917868902PEX7c.294_313dup (p.Gln105ProfsTer?)
c.169_188dup
c.180_199dup (p.Gln67ProfsTer?)
c.299_318dup (n.299_318dup)
c.174_193dup (p.Gln65ProfsTer?)
c.294_313dup (p.Gln105ProfsTer24)
c.294_313dup (p.Gln105ProfsTer20)
 ClinVar dbSNP
6g.136826419A>CCA365855934PEX7c.289A>C (p.Thr97Pro)
c.164A>C
c.175A>C (p.Thr59Pro)
c.294A>C (n.294A>C)
c.169A>C (p.Thr57Pro)
6g.136826419A>GCA365855935PEX7c.289A>G (p.Thr97Ala)
c.164A>G
c.175A>G (p.Thr59Ala)
c.294A>G (n.294A>G)
c.169A>G (p.Thr57Ala)
6g.136826419A>TCA365855936PEX7c.289A>T (p.Thr97Ser)
c.164A>T
c.175A>T (p.Thr59Ser)
c.294A>T (n.294A>T)
c.169A>T (p.Thr57Ser)
6g.136826420C>ACA365855937PEX7c.290C>A (p.Thr97Asn)
c.165C>A
c.176C>A (p.Thr59Asn)
c.295C>A (n.295C>A)
c.170C>A (p.Thr57Asn)
6g.136826420C>GCA365855938PEX7c.290C>G (p.Thr97Ser)
c.165C>G
c.176C>G (p.Thr59Ser)
c.295C>G (n.295C>G)
c.170C>G (p.Thr57Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826420C>TCA365855939PEX7c.290C>T (p.Thr97Ile)
c.165C>T
c.176C>T (p.Thr59Ile)
c.295C>T (n.295C>T)
c.170C>T (p.Thr57Ile)
6g.136826421T>ACA452376858PEX7c.291T>A (p.Thr97=)
c.166T>A
c.177T>A (p.Thr59=)
c.296T>A (n.296T>A)
c.171T>A (p.Thr57=)
6g.136826421T>CCA452376853PEX7c.291T>C (p.Thr97=)
c.166T>C
c.177T>C (p.Thr59=)
c.296T>C (n.296T>C)
c.171T>C (p.Thr57=)
 gnomAD v4
6g.136826421T>GCA452376839PEX7c.291T>G (p.Thr97=)
c.166T>G
c.177T>G (p.Thr59=)
c.296T>G (n.296T>G)
c.171T>G (p.Thr57=)
6g.136826422G>ACA365855942PEX7c.292G>A (p.Ala98Thr)
c.167G>A
c.178G>A (p.Ala60Thr)
c.297G>A (n.297G>A)
c.172G>A (p.Ala58Thr)
6g.136826422G>CCA365855941PEX7c.292G>C (p.Ala98Pro)
c.167G>C
c.178G>C (p.Ala60Pro)
c.297G>C (n.297G>C)
c.172G>C (p.Ala58Pro)
6g.136826422G>TCA365855940PEX7c.292G>T (p.Ala98Ser)
c.167G>T
c.178G>T (p.Ala60Ser)
c.297G>T (n.297G>T)
c.172G>T (p.Ala58Ser)
6g.136826423C>ACA365855943PEX7c.293C>A (p.Ala98Asp)
c.168C>A
c.179C>A (p.Ala60Asp)
c.298C>A (n.298C>A)
c.173C>A (p.Ala58Asp)
6g.136826423C>GCA365855944PEX7c.293C>G (p.Ala98Gly)
c.168C>G
c.179C>G (p.Ala60Gly)
c.298C>G (n.298C>G)
c.173C>G (p.Ala58Gly)
6g.136826423C>TCA365855945PEX7c.293C>T (p.Ala98Val)
c.168C>T
c.179C>T (p.Ala60Val)
c.298C>T (n.298C>T)
c.173C>T (p.Ala58Val)
6g.136826424delCA570744627PEX7c.294del (p.Ala100LeufsTer?)
c.169del
c.180del (p.Ala62LeufsTer?)
c.299del (n.299del)
c.174del (p.Ala60LeufsTer?)
c.294del (p.Ala100LeufsTer22)
c.294del (p.Ala100LeufsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826424C>ACA452376877PEX7c.294C>A (p.Ala98=)
c.169C>A
c.180C>A (p.Ala60=)
c.299C>A (n.299C>A)
c.174C>A (p.Ala58=)
6g.136826424C>GCA452376890PEX7c.294C>G (p.Ala98=)
c.169C>G
c.180C>G (p.Ala60=)
c.299C>G (n.299C>G)
c.174C>G (p.Ala58=)
6g.136826424C>TCA452376888PEX7c.294C>T (p.Ala98=)
c.169C>T
c.180C>T (p.Ala60=)
c.299C>T (n.299C>T)
c.174C>T (p.Ala58=)
 gnomAD v4
6g.136826425A>CCA365855946PEX7c.295A>C (p.Lys99Gln)
c.170A>C
c.181A>C (p.Lys61Gln)
c.300A>C (n.300A>C)
c.175A>C (p.Lys59Gln)
6g.136826425A>GCA365855947PEX7c.295A>G (p.Lys99Glu)
c.170A>G
c.181A>G (p.Lys61Glu)
c.300A>G (n.300A>G)
c.175A>G (p.Lys59Glu)
 gnomAD v4
6g.136826425A>TCA365855948PEX7c.295A>T (p.Lys99Ter)
c.170A>T
c.181A>T (p.Lys61Ter)
c.300A>T (n.300A>T)
c.175A>T (p.Lys59Ter)
6g.136826427delCA2580075091PEX7c.297del (p.Ala100LeufsTer?)
c.172del
c.183del (p.Ala62LeufsTer?)
c.302del (n.302del)
c.177del (p.Ala60LeufsTer?)
c.297del (p.Ala100LeufsTer22)
c.297del (p.Ala100LeufsTer18)
 ClinVar
6g.136826426A>CCA365855949PEX7c.296A>C (p.Lys99Thr)
c.171A>C
c.182A>C (p.Lys61Thr)
c.301A>C (n.301A>C)
c.176A>C (p.Lys59Thr)
6g.136826426A>GCA148641173PEX7c.296A>G (p.Lys99Arg)
c.171A>G
c.182A>G (p.Lys61Arg)
c.301A>G (n.301A>G)
c.176A>G (p.Lys59Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826426A>TCA365855950PEX7c.296A>T (p.Lys99Ile)
c.171A>T
c.182A>T (p.Lys61Ile)
c.301A>T (n.301A>T)
c.176A>T (p.Lys59Ile)
6g.136826427A>CCA365855951PEX7c.297A>C (p.Lys99Asn)
c.172A>C
c.183A>C (p.Lys61Asn)
c.302A>C (n.302A>C)
c.177A>C (p.Lys59Asn)
6g.136826427A>GCA4017546PEX7c.297A>G (p.Lys99=)
c.172A>G
c.183A>G (p.Lys61=)
c.302A>G (n.302A>G)
c.177A>G (p.Lys59=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826427A>TCA365855952PEX7c.297A>T (p.Lys99Asn)
c.172A>T
c.183A>T (p.Lys61Asn)
c.302A>T (n.302A>T)
c.177A>T (p.Lys59Asn)
6g.136826428G>ACA365855954PEX7c.298G>A (p.Ala100Thr)
c.173G>A
c.184G>A (p.Ala62Thr)
c.303G>A (n.303G>A)
c.178G>A (p.Ala60Thr)
6g.136826428G>CCA365855955PEX7c.298G>C (p.Ala100Pro)
c.173G>C
c.184G>C (p.Ala62Pro)
c.303G>C (n.303G>C)
c.178G>C (p.Ala60Pro)
6g.136826428G>TCA365855953PEX7c.298G>T (p.Ala100Ser)
c.173G>T
c.184G>T (p.Ala62Ser)
c.303G>T (n.303G>T)
c.178G>T (p.Ala60Ser)
6g.136826429C>ACA365855956PEX7c.299C>A (p.Ala100Asp)
c.174C>A
c.185C>A (p.Ala62Asp)
c.304C>A (n.304C>A)
c.179C>A (p.Ala60Asp)
6g.136826429C>GCA365855957PEX7c.299C>G (p.Ala100Gly)
c.174C>G
c.185C>G (p.Ala62Gly)
c.304C>G (n.304C>G)
c.179C>G (p.Ala60Gly)
6g.136826429C>TCA365855958PEX7c.299C>T (p.Ala100Val)
c.174C>T
c.185C>T (p.Ala62Val)
c.304C>T (n.304C>T)
c.179C>T (p.Ala60Val)
 dbSNP
6g.136826430T>ACA452376914PEX7c.300T>A (p.Ala100=)
c.175T>A
c.186T>A (p.Ala62=)
c.305T>A (n.305T>A)
c.180T>A (p.Ala60=)
6g.136826430T>CCA452376917PEX7c.300T>C (p.Ala100=)
c.175T>C
c.186T>C (p.Ala62=)
c.305T>C (n.305T>C)
c.180T>C (p.Ala60=)
 ClinVar dbSNP
6g.136826430T>GCA452376920PEX7c.300T>G (p.Ala100=)
c.175T>G
c.186T>G (p.Ala62=)
c.305T>G (n.305T>G)
c.180T>G (p.Ala60=)
6g.136826431G>ACA365855959PEX7c.301G>A (p.Ala101Thr)
c.176G>A
c.187G>A (p.Ala63Thr)
c.306G>A (n.306G>A)
c.181G>A (p.Ala61Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.136826431G>CCA365855960PEX7c.301G>C (p.Ala101Pro)
c.176G>C
c.187G>C (p.Ala63Pro)
c.306G>C (n.306G>C)
c.181G>C (p.Ala61Pro)
6g.136826431G>TCA365855961PEX7c.301G>T (p.Ala101Ser)
c.176G>T
c.187G>T (p.Ala63Ser)
c.306G>T (n.306G>T)
c.181G>T (p.Ala61Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
6g.136826432C>ACA365855962PEX7c.302C>A (p.Ala101Glu)
c.177C>A
c.188C>A (p.Ala63Glu)
c.307C>A (n.307C>A)
c.182C>A (p.Ala61Glu)
6g.136826432C>GCA365855963PEX7c.302C>G (p.Ala101Gly)
c.177C>G
c.188C>G (p.Ala63Gly)
c.307C>G (n.307C>G)
c.182C>G (p.Ala61Gly)
6g.136826432C>TCA365855964PEX7c.302C>T (p.Ala101Val)
c.177C>T
c.188C>T (p.Ala63Val)
c.307C>T (n.307C>T)
c.182C>T (p.Ala61Val)
 COSMIC COSMIC
6g.136826433A>CCA452376936PEX7c.303A>C (p.Ala101=)
c.178A>C
c.189A>C (p.Ala63=)
c.308A>C (n.308A>C)
c.183A>C (p.Ala61=)
6g.136826433A>GCA452376937PEX7c.303A>G (p.Ala101=)
c.178A>G
c.189A>G (p.Ala63=)
c.308A>G (n.308A>G)
c.183A>G (p.Ala61=)
6g.136826433A>TCA452376940PEX7c.303A>T (p.Ala101=)
c.178A>T
c.189A>T (p.Ala63=)
c.308A>T (n.308A>T)
c.183A>T (p.Ala61=)
6g.136826434G>ACA365855965PEX7c.304G>A (p.Gly102Arg)
c.179G>A
c.190G>A (p.Gly64Arg)
c.309G>A (n.309G>A)
c.184G>A (p.Gly62Arg)
6g.136826434G>CCA365855966PEX7c.304G>C (p.Gly102Arg)
c.179G>C
c.190G>C (p.Gly64Arg)
c.309G>C (n.309G>C)
c.184G>C (p.Gly62Arg)
6g.136826434G>TCA365855967PEX7c.304G>T (p.Gly102Trp)
c.179G>T
c.190G>T (p.Gly64Trp)
c.309G>T (n.309G>T)
c.184G>T (p.Gly62Trp)
6g.136826435G>ACA365855969PEX7c.305G>A (p.Gly102Glu)
c.180G>A
c.191G>A (p.Gly64Glu)
c.310G>A (n.310G>A)
c.185G>A (p.Gly62Glu)
 dbSNP
6g.136826435G>CCA365855970PEX7c.305G>C (p.Gly102Ala)
c.180G>C
c.191G>C (p.Gly64Ala)
c.310G>C (n.310G>C)
c.185G>C (p.Gly62Ala)
6g.136826435G>TCA365855968PEX7c.305G>T (p.Gly102Val)
c.180G>T
c.191G>T (p.Gly64Val)
c.310G>T (n.310G>T)
c.185G>T (p.Gly62Val)
6g.136826436G>ACA452376943PEX7c.306G>A (p.Gly102=)
c.181G>A
c.192G>A (p.Gly64=)
c.311G>A (n.311G>A)
c.186G>A (p.Gly62=)
6g.136826436G>CCA452376946PEX7c.306G>C (p.Gly102=)
c.181G>C
c.192G>C (p.Gly64=)
c.311G>C (n.311G>C)
c.186G>C (p.Gly62=)
6g.136826436G>TCA452376948PEX7c.306G>T (p.Gly102=)
c.181G>T
c.192G>T (p.Gly64=)
c.311G>T (n.311G>T)
c.186G>T (p.Gly62=)
6g.136826437C>ACA4017547PEX7c.307C>A (p.Pro103Thr)
c.182C>A
c.193C>A (p.Pro65Thr)
c.312C>A (n.312C>A)
c.187C>A (p.Pro63Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826437C>GCA365855971PEX7c.307C>G (p.Pro103Ala)
c.182C>G
c.193C>G (p.Pro65Ala)
c.312C>G (n.312C>G)
c.187C>G (p.Pro63Ala)
6g.136826437C>TCA365855972PEX7c.307C>T (p.Pro103Ser)
c.182C>T
c.193C>T (p.Pro65Ser)
c.312C>T (n.312C>T)
c.187C>T (p.Pro63Ser)
 gnomAD v4
6g.136826438C>ACA365855973PEX7c.308C>A (p.Pro103Gln)
c.183C>A
c.194C>A (p.Pro65Gln)
c.313C>A (n.313C>A)
c.188C>A (p.Pro63Gln)
6g.136826438C>GCA365855974PEX7c.308C>G (p.Pro103Arg)
c.183C>G
c.194C>G (p.Pro65Arg)
c.313C>G (n.313C>G)
c.188C>G (p.Pro63Arg)
6g.136826438C>TCA365855975PEX7c.308C>T (p.Pro103Leu)
c.183C>T
c.194C>T (p.Pro65Leu)
c.313C>T (n.313C>T)
c.188C>T (p.Pro63Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.136826439A>CCA452376962PEX7c.309A>C (p.Pro103=)
c.184A>C
c.195A>C (p.Pro65=)
c.314A>C (n.314A>C)
c.189A>C (p.Pro63=)
6g.136826439A>GCA452376969PEX7c.309A>G (p.Pro103=)
c.184A>G
c.195A>G (p.Pro65=)
c.314A>G (n.314A>G)
c.189A>G (p.Pro63=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826439A>TCA452376960PEX7c.309A>T (p.Pro103=)
c.184A>T
c.195A>T (p.Pro65=)
c.314A>T (n.314A>T)
c.189A>T (p.Pro63=)
6g.136826440C>ACA365855977PEX7c.310C>A (p.Leu104Met)
c.185C>A
c.196C>A (p.Leu66Met)
c.315C>A (n.315C>A)
c.190C>A (p.Leu64Met)
6g.136826440C>GCA365855976PEX7c.310C>G (p.Leu104Val)
c.185C>G
c.196C>G (p.Leu66Val)
c.315C>G (n.315C>G)
c.190C>G (p.Leu64Val)
6g.136826440C>TCA452376972PEX7c.310C>T (p.Leu104=)
c.185C>T
c.196C>T (p.Leu66=)
c.315C>T (n.315C>T)
c.190C>T (p.Leu64=)
 ClinVar dbSNP
6g.136826441T>ACA365855978PEX7c.311T>A (p.Leu104Gln)
c.186T>A
c.197T>A (p.Leu66Gln)
c.316T>A (n.316T>A)
c.191T>A (p.Leu64Gln)
6g.136826441T>CCA365855979PEX7c.311T>C (p.Leu104Pro)
c.186T>C
c.197T>C (p.Leu66Pro)
c.316T>C (n.316T>C)
c.191T>C (p.Leu64Pro)
 gnomAD v4
6g.136826441T>GCA365855980PEX7c.311T>G (p.Leu104Arg)
c.186T>G
c.197T>G (p.Leu66Arg)
c.316T>G (n.316T>G)
c.191T>G (p.Leu64Arg)
6g.136826442G>ACA452376976PEX7c.312G>A (p.Leu104=)
c.187G>A
c.198G>A (p.Leu66=)
c.317G>A (n.317G>A)
c.192G>A (p.Leu64=)
6g.136826442G>CCA452376980PEX7c.312G>C (p.Leu104=)
c.187G>C
c.198G>C (p.Leu66=)
c.317G>C (n.317G>C)
c.192G>C (p.Leu64=)
 gnomAD v4
6g.136826442G>TCA452376979PEX7c.312G>T (p.Leu104=)
c.187G>T
c.198G>T (p.Leu66=)
c.317G>T (n.317G>T)
c.192G>T (p.Leu64=)
6g.136826443C>ACA4017548PEX7c.313C>A (p.Gln105Lys)
c.188C>A
c.199C>A (p.Gln67Lys)
c.318C>A (n.318C>A)
c.193C>A (p.Gln65Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826443C>GCA365855981PEX7c.313C>G (p.Gln105Glu)
c.188C>G
c.199C>G (p.Gln67Glu)
c.318C>G (n.318C>G)
c.193C>G (p.Gln65Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136826443C>TCA365855982PEX7c.313C>T (p.Gln105Ter)
c.188C>T
c.199C>T (p.Gln67Ter)
c.318C>T (n.318C>T)
c.193C>T (p.Gln65Ter)
 dbSNP
6g.136826444A>CCA365855985PEX7c.314A>C (p.Gln105Pro)
c.189A>C
c.200A>C (p.Gln67Pro)
c.319A>C (n.319A>C)
c.194A>C (p.Gln65Pro)
6g.136826444A>GCA365855984PEX7c.314A>G (p.Gln105Arg)
c.189A>G
c.200A>G (p.Gln67Arg)
c.319A>G (n.319A>G)
c.194A>G (p.Gln65Arg)
 gnomAD v4
6g.136826444A>TCA365855983PEX7c.314A>T (p.Gln105Leu)
c.189A>T
c.200A>T (p.Gln67Leu)
c.319A>T (n.319A>T)
c.194A>T (p.Gln65Leu)
6g.136826445A>CCA365855986PEX7c.315A>C (p.Gln105His)
c.190A>C
c.201A>C (p.Gln67His)
c.320A>C (n.320A>C)
c.195A>C (p.Gln65His)
6g.136826445A>GCA452376987PEX7c.315A>G (p.Gln105=)
c.190A>G
c.201A>G (p.Gln67=)
c.320A>G (n.320A>G)
c.195A>G (p.Gln65=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.136826445A>TCA4017549PEX7c.315A>T (p.Gln105His)
c.190A>T
c.201A>T (p.Gln67His)
c.320A>T (n.320A>T)
c.195A>T (p.Gln65His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826446G>ACA365855987PEX7c.316G>A (p.Val106Ile)
c.191G>A
c.202G>A (p.Val68Ile)
c.321G>A (n.321G>A)
c.196G>A (p.Val66Ile)
6g.136826446G>CCA10626099PEX7c.316G>C (p.Val106Leu)
c.191G>C
c.202G>C (p.Val68Leu)
c.321G>C (n.321G>C)
c.196G>C (p.Val66Leu)
 ClinVar dbSNP gnomAD v4
6g.136826446G>TCA365855988PEX7c.316G>T (p.Val106Phe)
c.191G>T
c.202G>T (p.Val68Phe)
c.321G>T (n.321G>T)
c.196G>T (p.Val66Phe)
6g.136826447T>ACA365855989PEX7c.317T>A (p.Val106Asp)
c.192T>A
c.203T>A (p.Val68Asp)
c.322T>A (n.322T>A)
c.197T>A (p.Val66Asp)
6g.136826447T>CCA365855990PEX7c.317T>C (p.Val106Ala)
c.192T>C
c.203T>C (p.Val68Ala)
c.322T>C (n.322T>C)
c.197T>C (p.Val66Ala)
6g.136826447T>GCA365855991PEX7c.317T>G (p.Val106Gly)
c.192T>G
c.203T>G (p.Val68Gly)
c.322T>G (n.322T>G)
c.197T>G (p.Val66Gly)
6g.136826448C>ACA452377004PEX7c.318C>A (p.Val106=)
c.193C>A
c.204C>A (p.Val68=)
c.323C>A (n.323C>A)
c.198C>A (p.Val66=)
6g.136826448C>GCA452377006PEX7c.318C>G (p.Val106=)
c.193C>G
c.204C>G (p.Val68=)
c.323C>G (n.323C>G)
c.198C>G (p.Val66=)
6g.136826448C>TCA452377009PEX7c.318C>T (p.Val106=)
c.193C>T
c.204C>T (p.Val68=)
c.323C>T (n.323C>T)
c.198C>T (p.Val66=)
6g.136826449T>ACA365855994PEX7c.319T>A (p.Tyr107Asn)
c.194T>A
c.205T>A (p.Tyr69Asn)
c.324T>A (n.324T>A)
c.199T>A (p.Tyr67Asn)
 ClinVar
6g.136826449T>CCA365855992PEX7c.319T>C (p.Tyr107His)
c.194T>C
c.205T>C (p.Tyr69His)
c.324T>C (n.324T>C)
c.199T>C (p.Tyr67His)
 gnomAD v4
6g.136826449T>GCA365855993PEX7c.319T>G (p.Tyr107Asp)
c.194T>G
c.205T>G (p.Tyr69Asp)
c.324T>G (n.324T>G)
c.199T>G (p.Tyr67Asp)
6g.136826451_136826452delCA2695207125PEX7c.321_322del (p.Tyr107Ter)
c.196_197del
c.207_208del (p.Tyr69Ter)
c.326_327del (n.326_327del)
c.201_202del (p.Tyr67Ter)
6g.136826450A>CCA365855995PEX7c.320A>C (p.Tyr107Ser)
c.195A>C
c.206A>C (p.Tyr69Ser)
c.325A>C (n.325A>C)
c.200A>C (p.Tyr67Ser)
6g.136826450A>GCA4017550PEX7c.320A>G (p.Tyr107Cys)
c.195A>G
c.206A>G (p.Tyr69Cys)
c.325A>G (n.325A>G)
c.200A>G (p.Tyr67Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826450A>TCA365855996PEX7c.320A>T (p.Tyr107Phe)
c.195A>T
c.206A>T (p.Tyr69Phe)
c.325A>T (n.325A>T)
c.200A>T (p.Tyr67Phe)
6g.136826451T>ACA365855997PEX7c.321T>A (p.Tyr107Ter)
c.196T>A
c.207T>A (p.Tyr69Ter)
c.326T>A (n.326T>A)
c.201T>A (p.Tyr67Ter)
6g.136826451T>CCA452377026PEX7c.321T>C (p.Tyr107=)
c.196T>C
c.207T>C (p.Tyr69=)
c.326T>C (n.326T>C)
c.201T>C (p.Tyr67=)
6g.136826451T>GCA365855998PEX7c.321T>G (p.Tyr107Ter)
c.196T>G
c.207T>G (p.Tyr69Ter)
c.326T>G (n.326T>G)
c.201T>G (p.Tyr67Ter)
6g.136826452A>CCA365855999PEX7c.322A>C (p.Lys108Gln)
c.197A>C
c.208A>C (p.Lys70Gln)
c.327A>C (n.327A>C)
c.202A>C (p.Lys68Gln)
6g.136826452A>GCA148641174PEX7c.322A>G (p.Lys108Glu)
c.197A>G
c.208A>G (p.Lys70Glu)
c.327A>G (n.327A>G)
c.202A>G (p.Lys68Glu)
 ClinVar dbSNP gnomAD v4
6g.136826452A>TCA365856000PEX7c.322A>T (p.Lys108Ter)
c.197A>T
c.208A>T (p.Lys70Ter)
c.327A>T (n.327A>T)
c.202A>T (p.Lys68Ter)
6g.136826453_136826454delCA2580075094PEX7c.323_324del (p.Lys108ArgfsTer8)
c.198_199del
c.209_210del (p.Lys70ArgfsTer8)
c.328_329del (n.328_329del)
c.203_204del (p.Lys68ArgfsTer8)
c.323_324del (p.Lys108ArgfsTer?)
c.323_324del (p.Lys108ArgfsTer14)
 ClinVar
6g.136826461_136826703delCA2773213201PEX7c.331_339+234del
c.206_214+234del
c.217_225+234del
c.336_344+234del
c.211_219+234del
6g.136826453A>CCA365856001PEX7c.323A>C (p.Lys108Thr)
c.198A>C
c.209A>C (p.Lys70Thr)
c.328A>C (n.328A>C)
c.203A>C (p.Lys68Thr)
6g.136826453A>GCA365856002PEX7c.323A>G (p.Lys108Arg)
c.198A>G
c.209A>G (p.Lys70Arg)
c.328A>G (n.328A>G)
c.203A>G (p.Lys68Arg)
6g.136826453A>TCA365856003PEX7c.323A>T (p.Lys108Ile)
c.198A>T
c.209A>T (p.Lys70Ile)
c.328A>T (n.328A>T)
c.203A>T (p.Lys68Ile)
6g.136826454A>CCA365856004PEX7c.324A>C (p.Lys108Asn)
c.199A>C
c.210A>C (p.Lys70Asn)
c.329A>C (n.329A>C)
c.204A>C (p.Lys68Asn)
 gnomAD v4
6g.136826454A>GCA452377043PEX7c.324A>G (p.Lys108=)
c.199A>G
c.210A>G (p.Lys70=)
c.329A>G (n.329A>G)
c.204A>G (p.Lys68=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.136826454A>TCA365856005PEX7c.324A>T (p.Lys108Asn)
c.199A>T
c.210A>T (p.Lys70Asn)
c.329A>T (n.329A>T)
c.204A>T (p.Lys68Asn)
6g.136826455G>ACA365856006PEX7c.325G>A (p.Glu109Lys)
c.200G>A
c.211G>A (p.Glu71Lys)
c.330G>A (n.330G>A)
c.205G>A (p.Glu69Lys)
 dbSNP gnomAD v3 gnomAD v4
6g.136826455G>CCA365856007PEX7c.325G>C (p.Glu109Gln)
c.200G>C
c.211G>C (p.Glu71Gln)
c.330G>C (n.330G>C)
c.205G>C (p.Glu69Gln)
6g.136826455G>TCA365856008PEX7c.325G>T (p.Glu109Ter)
c.200G>T
c.211G>T (p.Glu71Ter)
c.330G>T (n.330G>T)
c.205G>T (p.Glu69Ter)
6g.136826456A>CCA365856009PEX7c.326A>C (p.Glu109Ala)
c.201A>C
c.212A>C (p.Glu71Ala)
c.331A>C (n.331A>C)
c.206A>C (p.Glu69Ala)
6g.136826456A>GCA365856010PEX7c.326A>G (p.Glu109Gly)
c.201A>G
c.212A>G (p.Glu71Gly)
c.331A>G (n.331A>G)
c.206A>G (p.Glu69Gly)
6g.136826456A>TCA365856011PEX7c.326A>T (p.Glu109Val)
c.201A>T
c.212A>T (p.Glu71Val)
c.331A>T (n.331A>T)
c.206A>T (p.Glu69Val)
6g.136826457A>CCA365856012PEX7c.327A>C (p.Glu109Asp)
c.202A>C
c.213A>C (p.Glu71Asp)
c.332A>C (n.332A>C)
c.207A>C (p.Glu69Asp)
6g.136826457A>GCA452377059PEX7c.327A>G (p.Glu109=)
c.202A>G
c.213A>G (p.Glu71=)
c.332A>G (n.332A>G)
c.207A>G (p.Glu69=)
 ClinVar gnomAD v4
6g.136826457A>TCA365856013PEX7c.327A>T (p.Glu109Asp)
c.202A>T
c.213A>T (p.Glu71Asp)
c.332A>T (n.332A>T)
c.207A>T (p.Glu69Asp)
 gnomAD v4
6g.136826458C>ACA365856014PEX7c.328C>A (p.His110Asn)
c.203C>A
c.214C>A (p.His72Asn)
c.333C>A (n.333C>A)
c.208C>A (p.His70Asn)
6g.136826458C>GCA365856015PEX7c.328C>G (p.His110Asp)
c.203C>G
c.214C>G (p.His72Asp)
c.333C>G (n.333C>G)
c.208C>G (p.His70Asp)
6g.136826458C>TCA365856016PEX7c.328C>T (p.His110Tyr)
c.203C>T
c.214C>T (p.His72Tyr)
c.333C>T (n.333C>T)
c.208C>T (p.His70Tyr)
 gnomAD v4
6g.136826459A>CCA365856017PEX7c.329A>C (p.His110Pro)
c.204A>C
c.215A>C (p.His72Pro)
c.334A>C (n.334A>C)
c.209A>C (p.His70Pro)
6g.136826459A>GCA148641175PEX7c.329A>G (p.His110Arg)
c.204A>G
c.215A>G (p.His72Arg)
c.334A>G (n.334A>G)
c.209A>G (p.His70Arg)
 dbSNP
6g.136826459A>TCA365856018PEX7c.329A>T (p.His110Leu)
c.204A>T
c.215A>T (p.His72Leu)
c.334A>T (n.334A>T)
c.209A>T (p.His70Leu)
6g.136826460C>ACA365856019PEX7c.330C>A (p.His110Gln)
c.205C>A
c.216C>A (p.His72Gln)
c.335C>A (n.335C>A)
c.210C>A (p.His70Gln)
 dbSNP gnomAD v2
6g.136826460C>GCA4017552PEX7c.330C>G (p.His110Gln)
c.205C>G
c.216C>G (p.His72Gln)
c.335C>G (n.335C>G)
c.210C>G (p.His70Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826460C>TCA4017551PEX7c.330C>T (p.His110=)
c.205C>T
c.216C>T (p.His72=)
c.335C>T (n.335C>T)
c.210C>T (p.His70=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826461G>ACA4017554PEX7c.331G>A (p.Ala111Thr)
c.206G>A
c.217G>A (p.Ala73Thr)
c.336G>A (n.336G>A)
c.211G>A (p.Ala71Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826461G>CCA365856020PEX7c.331G>C (p.Ala111Pro)
c.206G>C
c.217G>C (p.Ala73Pro)
c.336G>C (n.336G>C)
c.211G>C (p.Ala71Pro)
6g.136826461G>TCA4017553PEX7c.331G>T (p.Ala111Ser)
c.206G>T
c.217G>T (p.Ala73Ser)
c.336G>T (n.336G>T)
c.211G>T (p.Ala71Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826461_136826462insTTGCA2680488226PEX7c.331_332insTTG (p.His110_Ala111insVal)
c.206_207insTTG
c.217_218insTTG (p.His72_Ala73insVal)
c.336_337insTTG (n.336_337insTTG)
c.211_212insTTG (p.His70_Ala71insVal)
 gnomAD v4
6g.136826462C>ACA365856022PEX7c.332C>A (p.Ala111Asp)
c.207C>A
c.218C>A (p.Ala73Asp)
c.337C>A (n.337C>A)
c.212C>A (p.Ala71Asp)
6g.136826462C>GCA365856023PEX7c.332C>G (p.Ala111Gly)
c.207C>G
c.218C>G (p.Ala73Gly)
c.337C>G (n.337C>G)
c.212C>G (p.Ala71Gly)
6g.136826462C>TCA365856021PEX7c.332C>T (p.Ala111Val)
c.207C>T
c.218C>T (p.Ala73Val)
c.337C>T (n.337C>T)
c.212C>T (p.Ala71Val)
6g.136826463_136826464delCA2773213216PEX7c.333_334del (p.Gln112GlyfsTer4)
c.208_209del
c.219_220del (p.Gln74GlyfsTer4)
c.338_339del (n.338_339del)
c.213_214del (p.Gln72GlyfsTer4)
c.333_334del (p.Gln112GlyfsTer?)
c.333_334del (p.Gln112GlyfsTer10)
6g.136826463T>ACA452377087PEX7c.333T>A (p.Ala111=)
c.208T>A
c.219T>A (p.Ala73=)
c.338T>A (n.338T>A)
c.213T>A (p.Ala71=)
6g.136826463T>CCA452377088PEX7c.333T>C (p.Ala111=)
c.208T>C
c.219T>C (p.Ala73=)
c.338T>C (n.338T>C)
c.213T>C (p.Ala71=)
6g.136826463T>GCA452377090PEX7c.333T>G (p.Ala111=)
c.208T>G
c.219T>G (p.Ala73=)
c.338T>G (n.338T>G)
c.213T>G (p.Ala71=)
6g.136826464C>ACA365856024PEX7c.334C>A (p.Gln112Lys)
c.209C>A
c.220C>A (p.Gln74Lys)
c.339C>A (n.339C>A)
c.214C>A (p.Gln72Lys)
6g.136826464C>GCA365856025PEX7c.334C>G (p.Gln112Glu)
c.209C>G
c.220C>G (p.Gln74Glu)
c.339C>G (n.339C>G)
c.214C>G (p.Gln72Glu)
6g.136826464C>TCA16041012PEX7c.334C>T (p.Gln112Ter)
c.209C>T
c.220C>T (p.Gln74Ter)
c.339C>T (n.339C>T)
c.214C>T (p.Gln72Ter)
 ClinVar dbSNP
6g.136826465A>CCA365856026PEX7c.335A>C (p.Gln112Pro)
c.210A>C
c.221A>C (p.Gln74Pro)
c.340A>C (n.340A>C)
c.215A>C (p.Gln72Pro)
 dbSNP
6g.136826465A>GCA4017555PEX7c.335A>G (p.Gln112Arg)
c.210A>G
c.221A>G (p.Gln74Arg)
c.340A>G (n.340A>G)
c.215A>G (p.Gln72Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826465A>TCA365856027PEX7c.335A>T (p.Gln112Leu)
c.210A>T
c.221A>T (p.Gln74Leu)
c.340A>T (n.340A>T)
c.215A>T (p.Gln72Leu)
6g.136826466G>ACA452377100PEX7c.336G>A (p.Gln112=)
c.211G>A
c.222G>A (p.Gln74=)
c.341G>A (n.341G>A)
c.216G>A (p.Gln72=)
 ClinVar
6g.136826466G>CCA365856028PEX7c.336G>C (p.Gln112His)
c.211G>C
c.222G>C (p.Gln74His)
c.341G>C (n.341G>C)
c.216G>C (p.Gln72His)
6g.136826466G>TCA365856029PEX7c.336G>T (p.Gln112His)
c.211G>T
c.222G>T (p.Gln74His)
c.341G>T (n.341G>T)
c.216G>T (p.Gln72His)
6g.136826466_136826467insTGCA2773213217PEX7c.336_337insTG (p.Glu113TrpfsTer?)
c.211_212insTG
c.222_223insTG (p.Glu75TrpfsTer?)
c.341_342insTG (n.341_342insTG)
c.216_217insTG (p.Glu73TrpfsTer?)
c.336_337insTG (p.Glu113TrpfsTer10)
c.336_337insTG (p.Glu113TrpfsTer6)
6g.136826467G>ACA365856030PEX7c.337G>A (p.Glu113Lys)
c.212G>A
c.223G>A (p.Glu75Lys)
c.342G>A (n.342G>A)
c.217G>A (p.Glu73Lys)
6g.136826467G>CCA365856031PEX7c.337G>C (p.Glu113Gln)
c.212G>C
c.223G>C (p.Glu75Gln)
c.342G>C (n.342G>C)
c.217G>C (p.Glu73Gln)
 COSMIC
6g.136826467G>TCA365856032PEX7c.337G>T (p.Glu113Ter)
c.212G>T
c.223G>T (p.Glu75Ter)
c.342G>T (n.342G>T)
c.217G>T (p.Glu73Ter)
6g.136826468A>CCA365856033PEX7c.338A>C (p.Glu113Ala)
c.213A>C
c.224A>C (p.Glu75Ala)
c.343A>C (n.343A>C)
c.218A>C (p.Glu73Ala)
6g.136826468A>GCA365856034PEX7c.338A>G (p.Glu113Gly)
c.213A>G
c.224A>G (p.Glu75Gly)
c.343A>G (n.343A>G)
c.218A>G (p.Glu73Gly)
6g.136826468A>TCA365856035PEX7c.338A>T (p.Glu113Val)
c.213A>T
c.224A>T (p.Glu75Val)
c.343A>T (n.343A>T)
c.218A>T (p.Glu73Val)
6g.136826469G>ACA452377119PEX7c.339G>A (p.Glu113=)
c.214G>A
c.225G>A (p.Glu75=)
c.344G>A (n.344G>A)
c.219G>A (p.Glu73=)
 gnomAD v4
6g.136826469G>CCA365856036PEX7c.339G>C (p.Glu113Asp)
c.214G>C
c.225G>C (p.Glu75Asp)
c.344G>C (n.344G>C)
c.219G>C (p.Glu73Asp)
6g.136826469G>TCA365856037PEX7c.339G>T (p.Glu113Asp)
c.214G>T
c.225G>T (p.Glu75Asp)
c.344G>T (n.344G>T)
c.219G>T (p.Glu73Asp)
6g.136826470G>ACA365856038PEX7c.339+1G>A (n.339+1G>A)
c.214+1G>A
c.225+1G>A (n.225+1G>A)
c.344+1G>A (n.344+1G>A)
c.219+1G>A (n.219+1G>A)
 gnomAD v4
6g.136826470G>CCA365856040PEX7c.339+1G>C (n.339+1G>C)
c.214+1G>C
c.225+1G>C (n.225+1G>C)
c.344+1G>C (n.344+1G>C)
c.219+1G>C (n.219+1G>C)
6g.136826470G>TCA365856039PEX7c.339+1G>T (n.339+1G>T)
c.214+1G>T
c.225+1G>T (n.225+1G>T)
c.344+1G>T (n.344+1G>T)
c.219+1G>T (n.219+1G>T)
6g.136826471T>ACA365856041PEX7c.339+2T>A (n.339+2T>A)
c.214+2T>A
c.225+2T>A (n.225+2T>A)
c.344+2T>A (n.344+2T>A)
c.219+2T>A (n.219+2T>A)
6g.136826471T>CCA16041013PEX7c.339+2T>C (n.339+2T>C)
c.214+2T>C
c.225+2T>C (n.225+2T>C)
c.344+2T>C (n.344+2T>C)
c.219+2T>C (n.219+2T>C)
 ClinVar dbSNP gnomAD v4
6g.136826471T>GCA365856042PEX7c.339+2T>G (n.339+2T>G)
c.214+2T>G
c.225+2T>G (n.225+2T>G)
c.344+2T>G (n.344+2T>G)
c.219+2T>G (n.219+2T>G)
6g.136826472A>CCA2680488231PEX7c.339+3A>C (n.339+3A>C)
c.214+3A>C
c.225+3A>C (n.225+3A>C)
c.344+3A>C (n.344+3A>C)
c.219+3A>C (n.219+3A>C)
 gnomAD v4
6g.136826472A>GCA2578751760PEX7c.339+3A>G (n.339+3A>G)
c.214+3A>G
c.225+3A>G (n.225+3A>G)
c.344+3A>G (n.344+3A>G)
c.219+3A>G (n.219+3A>G)
 dbSNP
6g.136826473G>ACA570744631PEX7c.339+4G>A (n.339+4G>A)
c.214+4G>A
c.225+4G>A (n.225+4G>A)
c.344+4G>A (n.344+4G>A)
c.219+4G>A (n.219+4G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.136826477_136826478insACA2773213219PEX7c.339+8_339+9insA (n.339+8_339+9insA)
c.214+8_214+9insA
c.225+8_225+9insA (n.225+8_225+9insA)
c.344+8_344+9insA (n.344+8_344+9insA)
c.219+8_219+9insA (n.219+8_219+9insA)
6g.136826478G>CCA2697553782PEX7c.339+9G>C (n.339+9G>C)
c.214+9G>C
c.225+9G>C (n.225+9G>C)
c.344+9G>C (n.344+9G>C)
c.219+9G>C (n.219+9G>C)
 ClinVar
6g.136826479A>CCA4017557PEX7c.339+10A>C (n.339+10A>C)
c.214+10A>C
c.225+10A>C (n.225+10A>C)
c.344+10A>C (n.344+10A>C)
c.219+10A>C (n.219+10A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.136826479A>GCA4017556PEX7c.339+10A>G (n.339+10A>G)
c.214+10A>G
c.225+10A>G (n.225+10A>G)
c.344+10A>G (n.344+10A>G)
c.219+10A>G (n.219+10A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.136826479A>TCA2773213222PEX7c.339+10A>T (n.339+10A>T)
c.214+10A>T
c.225+10A>T (n.225+10A>T)
c.344+10A>T (n.344+10A>T)
c.219+10A>T (n.219+10A>T)
6g.136826481A>GCA651183700PEX7c.339+12A>G (n.339+12A>G)
c.214+12A>G
c.225+12A>G (n.225+12A>G)
c.344+12A>G (n.344+12A>G)
c.219+12A>G (n.219+12A>G)
 gnomAD v4 COSMIC

Number of alleles fetched