22 | g.18078508_18078510del | CA916083782 | PEX26 | c.132_134del (p.Leu45del)
| ClinVar dbSNP |
22 | g.18078508_18078511delinsCCTG | CA2395402803 | PEX26 | c.132_135delinsCCTG (p.Leu44=)
| |
22 | g.18078509C>A | CA410264781 | PEX26 | c.133C>A (p.Leu45Met)
| |
22 | g.18078509C= | CA2395402805 | PEX26 | c.133C= (p.Leu45=)
| |
22 | g.18078509C>G | CA410264785 | PEX26 | c.133C>G (p.Leu45Val)
| |
22 | g.18078509C>T | CA513185059 | PEX26 | c.133C>T (p.Leu45=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078509_18078511del | CA10093227 | PEX26 | c.133_135del (p.Leu45del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078509_18078512delinsCTGG | CA2395402806 | PEX26 | c.133_136delinsCTGG (p.Leu45=)
| |
22 | g.18078510T>A | CA410264790 | PEX26 | c.134T>A (p.Leu45Gln)
| |
22 | g.18078510T>C | CA115374 | PEX26 | c.134T>C (p.Leu45Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078510T>G | CA410264794 | PEX26 | c.134T>G (p.Leu45Arg)
| |
22 | g.18078510T= | CA2395402808 | PEX26 | c.134T= (p.Leu45=)
| |
22 | g.18078515_18078517del | CA2395402807 | PEX26 | c.139_141del (p.Val47del)
| dbSNP |
22 | g.18078511G>A | CA513185063 | PEX26 | c.135G>A (p.Leu45=)
| gnomAD v4 |
22 | g.18078511G>C | CA513185064 | PEX26 | c.135G>C (p.Leu45=)
| |
22 | g.18078511G>T | CA513185065 | PEX26 | c.135G>T (p.Leu45=)
| gnomAD v4 |
22 | g.18078512G>A | CA10093228 | PEX26 | c.136G>A (p.Val46Met)
| dbSNP ExAC gnomAD v4 |
22 | g.18078512G>C | CA410264805 | PEX26 | c.136G>C (p.Val46Leu)
| |
22 | g.18078512G= | CA2395402809 | PEX26 | c.136G= (p.Val46=)
| |
22 | g.18078512G>T | CA410264808 | PEX26 | c.136G>T (p.Val46Leu)
| gnomAD v4 |
22 | g.18078513T>A | CA410264811 | PEX26 | c.137T>A (p.Val46Glu)
| |
22 | g.18078513T>C | CA410264812 | PEX26 | c.137T>C (p.Val46Ala)
| |
22 | g.18078513T>G | CA410264813 | PEX26 | c.137T>G (p.Val46Gly)
| |
22 | g.18078514G>A | CA513185066 | PEX26 | c.138G>A (p.Val46=)
| |
22 | g.18078514G>C | CA513185067 | PEX26 | c.138G>C (p.Val46=)
| |
22 | g.18078514G>T | CA513185068 | PEX26 | c.138G>T (p.Val46=)
| gnomAD v4 |
22 | g.18078515G>A | CA410264815 | PEX26 | c.139G>A (p.Val47Met)
| gnomAD v4 |
22 | g.18078515G>C | CA410264817 | PEX26 | c.139G>C (p.Val47Leu)
| dbSNP gnomAD v4 |
22 | g.18078515G= | CA2395402810 | PEX26 | c.139G= (p.Val47=)
| |
22 | g.18078515G>T | CA410264827 | PEX26 | c.139G>T (p.Val47Leu)
| gnomAD v4 |
22 | g.18078516T>A | CA410264832 | PEX26 | c.140T>A (p.Val47Glu)
| |
22 | g.18078516T>C | CA410264836 | PEX26 | c.140T>C (p.Val47Ala)
| |
22 | g.18078516T>G | CA410264838 | PEX26 | c.140T>G (p.Val47Gly)
| |
22 | g.18078517G>A | CA513185069 | PEX26 | c.141G>A (p.Val47=)
| gnomAD v4 |
22 | g.18078517G>C | CA513185070 | PEX26 | c.141G>C (p.Val47=)
| ClinVar gnomAD v4 |
22 | g.18078517G>T | CA513185071 | PEX26 | c.141G>T (p.Val47=)
| gnomAD v4 |
22 | g.18078518C>A | CA410264849 | PEX26 | c.142C>A (p.His48Asn)
| gnomAD v4 |
22 | g.18078518C= | CA2395402811 | PEX26 | c.142C= (p.His48=)
| |
22 | g.18078518C>G | CA410264843 | PEX26 | c.142C>G (p.His48Asp)
| |
22 | g.18078518C>T | CA10093229 | PEX26 | c.142C>T (p.His48Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078519A>C | CA410264855 | PEX26 | c.143A>C (p.His48Pro)
| |
22 | g.18078519A>G | CA410264857 | PEX26 | c.143A>G (p.His48Arg)
| |
22 | g.18078519A>T | CA410264860 | PEX26 | c.143A>T (p.His48Leu)
| |
22 | g.18078520C>A | CA410264864 | PEX26 | c.144C>A (p.His48Gln)
| |
22 | g.18078520C>G | CA410264866 | PEX26 | c.144C>G (p.His48Gln)
| |
22 | g.18078520C>T | CA513185072 | PEX26 | c.144C>T (p.His48=)
| gnomAD v4 |
22 | g.18078521C>A | CA410264870 | PEX26 | c.145C>A (p.Leu49Met)
| gnomAD v4 |
22 | g.18078521C= | CA2395402812 | PEX26 | c.145C= (p.Leu49=)
| |
22 | g.18078521C>G | CA410264873 | PEX26 | c.145C>G (p.Leu49Val)
| ClinVar |
22 | g.18078521C>T | CA513185073 | PEX26 | c.145C>T (p.Leu49=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078522T>A | CA410264876 | PEX26 | c.146T>A (p.Leu49Gln)
| |
22 | g.18078522T>C | CA410264877 | PEX26 | c.146T>C (p.Leu49Pro)
| gnomAD v4 |
22 | g.18078522T>G | CA410264880 | PEX26 | c.146T>G (p.Leu49Arg)
| |
22 | g.18078523G>A | CA513184384 | PEX26 | c.147G>A (p.Leu49=)
| gnomAD v4 |
22 | g.18078523G>C | CA513184386 | PEX26 | c.147G>C (p.Leu49=)
| |
22 | g.18078523G>T | CA513184388 | PEX26 | c.147G>T (p.Leu49=)
| gnomAD v4 |
22 | g.18078524G>A | CA410264893 | PEX26 | c.148G>A (p.Asp50Asn)
| gnomAD v4 |
22 | g.18078524G>C | CA410264888 | PEX26 | c.148G>C (p.Asp50His)
| ClinVar dbSNP |
22 | g.18078524G= | CA2395402813 | PEX26 | c.148G= (p.Asp50=)
| |
22 | g.18078524G>T | CA410264885 | PEX26 | c.148G>T (p.Asp50Tyr)
| gnomAD v4 |
22 | g.18078525A>C | CA410264898 | PEX26 | c.149A>C (p.Asp50Ala)
| |
22 | g.18078525A>G | CA410264901 | PEX26 | c.149A>G (p.Asp50Gly)
| gnomAD v4 |
22 | g.18078525A>T | CA410264904 | PEX26 | c.149A>T (p.Asp50Val)
| |
22 | g.18078526C>A | CA410264908 | PEX26 | c.150C>A (p.Asp50Glu)
| |
22 | g.18078526C= | CA2395402814 | PEX26 | c.150C= (p.Asp50=)
| |
22 | g.18078526C>G | CA410264912 | PEX26 | c.150C>G (p.Asp50Glu)
| dbSNP |
22 | g.18078526C>T | CA513184402 | PEX26 | c.150C>T (p.Asp50=)
| ClinVar dbSNP |
22 | g.18078527T>A | CA410264924 | PEX26 | c.151T>A (p.Phe51Ile)
| |
22 | g.18078527T>C | CA410264927 | PEX26 | c.151T>C (p.Phe51Leu)
| |
22 | g.18078527T>G | CA410264929 | PEX26 | c.151T>G (p.Phe51Val)
| gnomAD v4 |
22 | g.18078528T>A | CA10093230 | PEX26 | c.152T>A (p.Phe51Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078528T>C | CA410264936 | PEX26 | c.152T>C (p.Phe51Ser)
| gnomAD v4 |
22 | g.18078528T>G | CA410264939 | PEX26 | c.152T>G (p.Phe51Cys)
| |
22 | g.18078528T= | CA2395402815 | PEX26 | c.152T= (p.Phe51=)
| |
22 | g.18078528_18078529delinsTC | CA2395402816 | PEX26 | c.152_153delinsTC (p.Phe51=)
| |
22 | g.18078529C>A | CA10093231 | PEX26 | c.153C>A (p.Phe51Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078529C= | CA2395402817 | PEX26 | c.153C= (p.Phe51=)
| |
22 | g.18078529C>G | CA410264947 | PEX26 | c.153C>G (p.Phe51Leu)
| |
22 | g.18078529C>T | CA513184416 | PEX26 | c.153C>T (p.Phe51=)
| gnomAD v4 |
22 | g.18078530del | CA638502299 | PEX26 | c.154del (p.Arg52GlyfsTer30)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078530C>A | CA513184419 | PEX26 | c.154C>A (p.Arg52=)
| dbSNP gnomAD v2 |
22 | g.18078530C= | CA2395402818 | PEX26 | c.154C= (p.Arg52=)
| |
22 | g.18078530C>G | CA410264953 | PEX26 | c.154C>G (p.Arg52Gly)
| dbSNP gnomAD v4 |
22 | g.18078530C>T | CA410264950 | PEX26 | c.154C>T (p.Arg52Trp)
| dbSNP gnomAD v4 |
22 | g.18078531G>A | CA10093233 | PEX26 | c.155G>A (p.Arg52Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078531G>C | CA10093232 | PEX26 | c.155G>C (p.Arg52Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078531G= | CA2395402819 | PEX26 | c.155G= (p.Arg52=)
| |
22 | g.18078531G>T | CA410264962 | PEX26 | c.155G>T (p.Arg52Leu)
| gnomAD v4 |
22 | g.18078532G>A | CA513184427 | PEX26 | c.156G>A (p.Arg52=)
| |
22 | g.18078532G>C | CA513184429 | PEX26 | c.156G>C (p.Arg52=)
| gnomAD v4 |
22 | g.18078532G>T | CA513184430 | PEX26 | c.156G>T (p.Arg52=)
| gnomAD v4 |
22 | g.18078532_18078552delinsGGCGGCGCTGGAGACCTGCGA | CA2395402820 | PEX26 | c.156_176delinsGGCGGCGCTGGAGACCTGCGA (p.Arg52=)
| |
22 | g.18078533G>A | CA410264965 | PEX26 | c.157G>A (p.Ala53Thr)
| gnomAD v4 |
22 | g.18078533G>C | CA410264968 | PEX26 | c.157G>C (p.Ala53Pro)
| |
22 | g.18078533G>T | CA410264970 | PEX26 | c.157G>T (p.Ala53Ser)
| gnomAD v4 |
22 | g.18078537_18078556del | CA2395402821 | PEX26 | c.161_180del (p.Ala54GlyfsTer?)
| dbSNP |
22 | g.18078533_18078534insACAC | CA2818335180 | PEX26 | c.157_158insACAC (p.Ala53AspfsTer?)
| |
22 | g.18078534C>A | CA410264972 | PEX26 | c.158C>A (p.Ala53Glu)
| gnomAD v4 |
22 | g.18078534C>G | CA410264976 | PEX26 | c.158C>G (p.Ala53Gly)
| gnomAD v4 |
22 | g.18078534C>T | CA410264978 | PEX26 | c.158C>T (p.Ala53Val)
| gnomAD v4 |
22 | g.18078535G>A | CA513184440 | PEX26 | c.159G>A (p.Ala53=)
| gnomAD v4 |
22 | g.18078535G>C | CA513184442 | PEX26 | c.159G>C (p.Ala53=)
| gnomAD v4 |
22 | g.18078535G>T | CA513184444 | PEX26 | c.159G>T (p.Ala53=)
| gnomAD v4 |
22 | g.18078536G>A | CA410264984 | PEX26 | c.160G>A (p.Ala54Thr)
| gnomAD v4 |
22 | g.18078536G>C | CA410264988 | PEX26 | c.160G>C (p.Ala54Pro)
| |
22 | g.18078536G>T | CA410264992 | PEX26 | c.160G>T (p.Ala54Ser)
| gnomAD v4 |
22 | g.18078537C>A | CA410265000 | PEX26 | c.161C>A (p.Ala54Glu)
| gnomAD v4 |
22 | g.18078537C>G | CA410264997 | PEX26 | c.161C>G (p.Ala54Gly)
| |
22 | g.18078537C>T | CA410264995 | PEX26 | c.161C>T (p.Ala54Val)
| gnomAD v4 |
22 | g.18078538G>A | CA513184453 | PEX26 | c.162G>A (p.Ala54=)
| gnomAD v4 |
22 | g.18078538G>C | CA513184455 | PEX26 | c.162G>C (p.Ala54=)
| gnomAD v4 |
22 | g.18078538G>T | CA513184457 | PEX26 | c.162G>T (p.Ala54=)
| ClinVar gnomAD v4 |
22 | g.18078539C>A | CA410265002 | PEX26 | c.163C>A (p.Leu55Met)
| gnomAD v4 |
22 | g.18078539C= | CA2395402822 | PEX26 | c.163C= (p.Leu55=)
| |
22 | g.18078539C>G | CA10093234 | PEX26 | c.163C>G (p.Leu55Val)
| dbSNP ExAC gnomAD v2 |
22 | g.18078539C>T | CA513184462 | PEX26 | c.163C>T (p.Leu55=)
| ClinVar gnomAD v4 |
22 | g.18078540T>A | CA410265015 | PEX26 | c.164T>A (p.Leu55Gln)
| |
22 | g.18078540T>C | CA410265021 | PEX26 | c.164T>C (p.Leu55Pro)
| gnomAD v4 |
22 | g.18078540T>G | CA410265018 | PEX26 | c.164T>G (p.Leu55Arg)
| |
22 | g.18078541G>A | CA513184471 | PEX26 | c.165G>A (p.Leu55=)
| gnomAD v4 |
22 | g.18078541G>C | CA513184469 | PEX26 | c.165G>C (p.Leu55=)
| |
22 | g.18078541G>T | CA513184468 | PEX26 | c.165G>T (p.Leu55=)
| gnomAD v4 |
22 | g.18078542del | CA2655184093 | PEX26 | c.166del (p.Glu56ArgfsTer26)
| gnomAD v4 |
22 | g.18078542G>A | CA410265026 | PEX26 | c.166G>A (p.Glu56Lys)
| |
22 | g.18078542G>C | CA410265029 | PEX26 | c.166G>C (p.Glu56Gln)
| |
22 | g.18078542G>T | CA410265031 | PEX26 | c.166G>T (p.Glu56Ter)
| gnomAD v4 |
22 | g.18078543A>C | CA410265036 | PEX26 | c.167A>C (p.Glu56Ala)
| |
22 | g.18078543A>G | CA410265039 | PEX26 | c.167A>G (p.Glu56Gly)
| gnomAD v4 |
22 | g.18078543A>T | CA410265043 | PEX26 | c.167A>T (p.Glu56Val)
| gnomAD v4 |
22 | g.18078544G>A | CA10093235 | PEX26 | c.168G>A (p.Glu56=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078544G>C | CA410265051 | PEX26 | c.168G>C (p.Glu56Asp)
| |
22 | g.18078544G= | CA2395402823 | PEX26 | c.168G= (p.Glu56=)
| |
22 | g.18078544G>T | CA410265054 | PEX26 | c.168G>T (p.Glu56Asp)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.18078545A= | CA2395402824 | PEX26 | c.169A= (p.Thr57=)
| |
22 | g.18078545A>C | CA410265057 | PEX26 | c.169A>C (p.Thr57Pro)
| |
22 | g.18078545A>G | CA10093236 | PEX26 | c.169A>G (p.Thr57Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078545A>T | CA410265061 | PEX26 | c.169A>T (p.Thr57Ser)
| |
22 | g.18078546C>A | CA410265071 | PEX26 | c.170C>A (p.Thr57Asn)
| gnomAD v4 |
22 | g.18078546C>G | CA410265066 | PEX26 | c.170C>G (p.Thr57Ser)
| gnomAD v4 |
22 | g.18078546C>T | CA410265067 | PEX26 | c.170C>T (p.Thr57Ile)
| gnomAD v4 |
22 | g.18078547C>A | CA513184490 | PEX26 | c.171C>A (p.Thr57=)
| gnomAD v4 |
22 | g.18078547C= | CA2395402825 | PEX26 | c.171C= (p.Thr57=)
| |
22 | g.18078547C>G | CA513184493 | PEX26 | c.171C>G (p.Thr57=)
| |
22 | g.18078547C>T | CA513184492 | PEX26 | c.171C>T (p.Thr57=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078548T>A | CA410265077 | PEX26 | c.172T>A (p.Cys58Ser)
| gnomAD v4 |
22 | g.18078548T>C | CA410265078 | PEX26 | c.172T>C (p.Cys58Arg)
| gnomAD v4 |
22 | g.18078548T>G | CA410265080 | PEX26 | c.172T>G (p.Cys58Gly)
| |
22 | g.18078549G>A | CA410265083 | PEX26 | c.173G>A (p.Cys58Tyr)
| gnomAD v4 |
22 | g.18078549G>C | CA410265086 | PEX26 | c.173G>C (p.Cys58Ser)
| |
22 | g.18078549G>T | CA410265089 | PEX26 | c.173G>T (p.Cys58Phe)
| gnomAD v4 |
22 | g.18078550C>A | CA410265092 | PEX26 | c.174C>A (p.Cys58Ter)
| gnomAD v4 |
22 | g.18078550C>G | CA410265094 | PEX26 | c.174C>G (p.Cys58Trp)
| ClinVar |
22 | g.18078550C>T | CA513184504 | PEX26 | c.174C>T (p.Cys58=)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078551G>A | CA410265096 | PEX26 | c.175G>A (p.Glu59Lys)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078551G>C | CA410265099 | PEX26 | c.175G>C (p.Glu59Gln)
| gnomAD v4 |
22 | g.18078551G= | CA2395402826 | PEX26 | c.175G= (p.Glu59=)
| |
22 | g.18078551G>T | CA10093237 | PEX26 | c.175G>T (p.Glu59Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078552A>C | CA410265113 | PEX26 | c.176A>C (p.Glu59Ala)
| |
22 | g.18078552A>G | CA410265110 | PEX26 | c.176A>G (p.Glu59Gly)
| |
22 | g.18078552A>T | CA410265107 | PEX26 | c.176A>T (p.Glu59Val)
| |
22 | g.18078553G>A | CA10093239 | PEX26 | c.177G>A (p.Glu59=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078553G>C | CA410265119 | PEX26 | c.177G>C (p.Glu59Asp)
| gnomAD v4 |
22 | g.18078553G= | CA2395402827 | PEX26 | c.177G= (p.Glu59=)
| |
22 | g.18078553G>T | CA410265122 | PEX26 | c.177G>T (p.Glu59Asp)
| gnomAD v4 |
22 | g.18078553_18078554delinsGC | CA2395402829 | PEX26 | c.177_178delinsGC (p.Glu59=)
| |
22 | g.18078553_18078555delinsGCG | CA2395402828 | PEX26 | c.177_179delinsGCG (p.Glu59=)
| |
22 | g.18078554del | CA10093238 | PEX26 | c.178del (p.Arg60GlyfsTer22)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078554C>A | CA513184521 | PEX26 | c.178C>A (p.Arg60=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078554C= | CA2395402830 | PEX26 | c.178C= (p.Arg60=)
| |
22 | g.18078554C>G | CA410265127 | PEX26 | c.178C>G (p.Arg60Gly)
| |
22 | g.18078554C>T | CA410265130 | PEX26 | c.178C>T (p.Arg60Trp)
| gnomAD v4 |
22 | g.18078554_18078555delinsA | CA1139666952 | PEX26 | c.178_179delinsA (p.Ala61ProfsTer21)
| ClinVar dbSNP |
22 | g.18078555G>A | CA10093240 | PEX26 | c.179G>A (p.Arg60Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078555G>C | CA410265136 | PEX26 | c.179G>C (p.Arg60Pro)
| gnomAD v4 |
22 | g.18078555G= | CA2395402831 | PEX26 | c.179G= (p.Arg60=)
| |
22 | g.18078555G>T | CA410265139 | PEX26 | c.179G>T (p.Arg60Leu)
| gnomAD v4 |
22 | g.18078556G>A | CA513184533 | PEX26 | c.180G>A (p.Arg60=)
| ClinVar |
22 | g.18078556G>C | CA513184535 | PEX26 | c.180G>C (p.Arg60=)
| |
22 | g.18078556G>T | CA513184531 | PEX26 | c.180G>T (p.Arg60=)
| gnomAD v4 |
22 | g.18078557G>A | CA410265143 | PEX26 | c.181G>A (p.Ala61Thr)
| gnomAD v4 |
22 | g.18078557G>C | CA410265145 | PEX26 | c.181G>C (p.Ala61Pro)
| |
22 | g.18078557G= | CA2395402832 | PEX26 | c.181G= (p.Ala61=)
| |
22 | g.18078557G>T | CA410265149 | PEX26 | c.181G>T (p.Ala61Ser)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078558C>A | CA410265160 | PEX26 | c.182C>A (p.Ala61Asp)
| gnomAD v4 |
22 | g.18078558C>G | CA410265157 | PEX26 | c.182C>G (p.Ala61Gly)
| |
22 | g.18078558C>T | CA410265153 | PEX26 | c.182C>T (p.Ala61Val)
| gnomAD v4 |
22 | g.18078559C>A | CA513184545 | PEX26 | c.183C>A (p.Ala61=)
| gnomAD v4 |
22 | g.18078559C>G | CA513184546 | PEX26 | c.183C>G (p.Ala61=)
| gnomAD v4 |
22 | g.18078559C>T | CA513184548 | PEX26 | c.183C>T (p.Ala61=)
| ClinVar |
22 | g.18078559_18078584delinsCTGGCAGAGTCTGGCCAACCACGCCG | CA2395402833 | PEX26 | c.183_208delinsCTGGCAGAGTCTGGCCAACCACGCCG (p.Ala61=)
| |
22 | g.18078560T>A | CA410265163 | PEX26 | c.184T>A (p.Trp62Arg)
| gnomAD v4 |
22 | g.18078560T>C | CA410265167 | PEX26 | c.184T>C (p.Trp62Arg)
| gnomAD v4 |
22 | g.18078560T>G | CA410265169 | PEX26 | c.184T>G (p.Trp62Gly)
| |
22 | g.18078568_18078592del | CA321284536 | PEX26 | c.192_216del (p.Ser64ArgfsTer10)
| ClinVar dbSNP |
22 | g.18078561G>A | CA410265173 | PEX26 | c.185G>A (p.Trp62Ter)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078561G>C | CA410265180 | PEX26 | c.185G>C (p.Trp62Ser)
| |
22 | g.18078561G= | CA2395402834 | PEX26 | c.185G= (p.Trp62=)
| |
22 | g.18078561G>T | CA410265183 | PEX26 | c.185G>T (p.Trp62Leu)
| gnomAD v4 |
22 | g.18078562G>A | CA410265188 | PEX26 | c.186G>A (p.Trp62Ter)
| dbSNP gnomAD v4 |
22 | g.18078562G>C | CA410265191 | PEX26 | c.186G>C (p.Trp62Cys)
| |
22 | g.18078562G= | CA2395402835 | PEX26 | c.186G= (p.Trp62=)
| |
22 | g.18078562G>T | CA410265195 | PEX26 | c.186G>T (p.Trp62Cys)
| gnomAD v4 |
22 | g.18078563C>A | CA410265198 | PEX26 | c.187C>A (p.Gln63Lys)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078563C= | CA2395402836 | PEX26 | c.187C= (p.Gln63=)
| |
22 | g.18078563C>G | CA10093241 | PEX26 | c.187C>G (p.Gln63Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078563C>T | CA410265203 | PEX26 | c.187C>T (p.Gln63Ter)
| gnomAD v4 |
22 | g.18078564A= | CA2395402837 | PEX26 | c.188A= (p.Gln63=)
| |
22 | g.18078564A>C | CA410265210 | PEX26 | c.188A>C (p.Gln63Pro)
| |
22 | g.18078564A>G | CA410265208 | PEX26 | c.188A>G (p.Gln63Arg)
| dbSNP gnomAD v4 |
22 | g.18078564A>T | CA410265205 | PEX26 | c.188A>T (p.Gln63Leu)
| |
22 | g.18078566_18078567del | CA2655184179 | PEX26 | c.190_191del (p.Leu65GlyfsTer?)
| ClinVar gnomAD v4 |
22 | g.18078565G>A | CA513184566 | PEX26 | c.189G>A (p.Gln63=)
| ClinVar gnomAD v4 |
22 | g.18078565G>C | CA410265213 | PEX26 | c.189G>C (p.Gln63His)
| dbSNP |
22 | g.18078565G= | CA2395402838 | PEX26 | c.189G= (p.Gln63=)
| |
22 | g.18078565G>T | CA410265214 | PEX26 | c.189G>T (p.Gln63His)
| gnomAD v4 |
22 | g.18078566A>C | CA410265217 | PEX26 | c.190A>C (p.Ser64Arg)
| |
22 | g.18078566A>G | CA410265219 | PEX26 | c.190A>G (p.Ser64Gly)
| |
22 | g.18078566A>T | CA410265220 | PEX26 | c.190A>T (p.Ser64Cys)
| |
22 | g.18078567G>A | CA410265223 | PEX26 | c.191G>A (p.Ser64Asn)
| |
22 | g.18078567G>C | CA410265225 | PEX26 | c.191G>C (p.Ser64Thr)
| gnomAD v4 |
22 | g.18078567G>T | CA410265226 | PEX26 | c.191G>T (p.Ser64Ile)
| gnomAD v4 |
22 | g.18078568T>A | CA321284542 | PEX26 | c.192T>A (p.Ser64Arg)
| dbSNP |
22 | g.18078568T>C | CA513184579 | PEX26 | c.192T>C (p.Ser64=)
| gnomAD v4 |
22 | g.18078568T>G | CA410265230 | PEX26 | c.192T>G (p.Ser64Arg)
| |
22 | g.18078568T= | CA2395402839 | PEX26 | c.192T= (p.Ser64=)
| |
22 | g.18078569C>A | CA410265232 | PEX26 | c.193C>A (p.Leu65Met)
| |
22 | g.18078569C>G | CA410265234 | PEX26 | c.193C>G (p.Leu65Val)
| |
22 | g.18078569C>T | CA513184584 | PEX26 | c.193C>T (p.Leu65=)
| |
22 | g.18078570T>A | CA410265236 | PEX26 | c.194T>A (p.Leu65Gln)
| |
22 | g.18078570T>C | CA410265239 | PEX26 | c.194T>C (p.Leu65Pro)
| |
22 | g.18078570T>G | CA410265241 | PEX26 | c.194T>G (p.Leu65Arg)
| |
22 | g.18078571G>A | CA321284545 | PEX26 | c.195G>A (p.Leu65=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078571G>C | CA513184593 | PEX26 | c.195G>C (p.Leu65=)
| |
22 | g.18078571G= | CA2395402840 | PEX26 | c.195G= (p.Leu65=)
| |
22 | g.18078571G>T | CA513184591 | PEX26 | c.195G>T (p.Leu65=)
| gnomAD v4 |
22 | g.18078572G>A | CA410265244 | PEX26 | c.196G>A (p.Ala66Thr)
| gnomAD v4 |
22 | g.18078572G>C | CA410265248 | PEX26 | c.196G>C (p.Ala66Pro)
| |
22 | g.18078572G>T | CA410265246 | PEX26 | c.196G>T (p.Ala66Ser)
| gnomAD v4 |
22 | g.18078573C>A | CA410265251 | PEX26 | c.197C>A (p.Ala66Asp)
| gnomAD v4 |
22 | g.18078573C= | CA2395402841 | PEX26 | c.197C= (p.Ala66=)
| |
22 | g.18078573C>G | CA410265253 | PEX26 | c.197C>G (p.Ala66Gly)
| |
22 | g.18078573C>T | CA410265255 | PEX26 | c.197C>T (p.Ala66Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078576_18078579dup | CA2655184201 | PEX26 | c.200_203dup (p.His68GlnfsTer?)
| gnomAD v4 |
22 | g.18078574C>A | CA513184603 | PEX26 | c.198C>A (p.Ala66=)
| gnomAD v4 |
22 | g.18078574C= | CA2395402842 | PEX26 | c.198C= (p.Ala66=)
| |
22 | g.18078574C>G | CA513184605 | PEX26 | c.198C>G (p.Ala66=)
| |
22 | g.18078574C>T | CA10093242 | PEX26 | c.198C>T (p.Ala66=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078575A>C | CA410265259 | PEX26 | c.199A>C (p.Asn67His)
| |
22 | g.18078575A>G | CA410265260 | PEX26 | c.199A>G (p.Asn67Asp)
| gnomAD v4 |
22 | g.18078575A>T | CA410265263 | PEX26 | c.199A>T (p.Asn67Tyr)
| |
22 | g.18078576del | CA2655184210 | PEX26 | c.200del (p.Asn67ThrfsTer15)
| gnomAD v4 |
22 | g.18078576A= | CA2395402843 | PEX26 | c.200A= (p.Asn67=)
| |
22 | g.18078576A>C | CA410265266 | PEX26 | c.200A>C (p.Asn67Thr)
| |
22 | g.18078576A>G | CA10093243 | PEX26 | c.200A>G (p.Asn67Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078576A>T | CA410265269 | PEX26 | c.200A>T (p.Asn67Ile)
| |
22 | g.18078577C>A | CA410265271 | PEX26 | c.201C>A (p.Asn67Lys)
| gnomAD v4 |
22 | g.18078577C= | CA2395402844 | PEX26 | c.201C= (p.Asn67=)
| |
22 | g.18078577C>G | CA410265273 | PEX26 | c.201C>G (p.Asn67Lys)
| gnomAD v4 |
22 | g.18078577C>T | CA513184618 | PEX26 | c.201C>T (p.Asn67=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078578C>A | CA410265275 | PEX26 | c.202C>A (p.His68Asn)
| gnomAD v4 |
22 | g.18078578C>G | CA410265277 | PEX26 | c.202C>G (p.His68Asp)
| |
22 | g.18078578C>T | CA410265276 | PEX26 | c.202C>T (p.His68Tyr)
| dbSNP gnomAD v4 |
22 | g.18078579A>C | CA410265279 | PEX26 | c.203A>C (p.His68Pro)
| |
22 | g.18078579A>G | CA410265280 | PEX26 | c.203A>G (p.His68Arg)
| gnomAD v4 |
22 | g.18078579A>T | CA410265282 | PEX26 | c.203A>T (p.His68Leu)
| |
22 | g.18078580C>A | CA410265285 | PEX26 | c.204C>A (p.His68Gln)
| gnomAD v4 |
22 | g.18078580C>G | CA410265287 | PEX26 | c.204C>G (p.His68Gln)
| |
22 | g.18078580C>T | CA513184621 | PEX26 | c.204C>T (p.His68=)
| ClinVar gnomAD v4 |
22 | g.18078581G>A | CA10093244 | PEX26 | c.205G>A (p.Ala69Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.18078581G>C | CA410265290 | PEX26 | c.205G>C (p.Ala69Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078581G= | CA2395402845 | PEX26 | c.205G= (p.Ala69=)
| |
22 | g.18078581G>T | CA410265291 | PEX26 | c.205G>T (p.Ala69Ser)
| gnomAD v4 |
22 | g.18078582C>A | CA410265294 | PEX26 | c.206C>A (p.Ala69Asp)
| gnomAD v4 |
22 | g.18078582C= | CA2395402846 | PEX26 | c.206C= (p.Ala69=)
| |
22 | g.18078582C>G | CA410265296 | PEX26 | c.206C>G (p.Ala69Gly)
| |
22 | g.18078582C>T | CA410265298 | PEX26 | c.206C>T (p.Ala69Val)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078583C>A | CA513184622 | PEX26 | c.207C>A (p.Ala69=)
| dbSNP gnomAD v4 |
22 | g.18078583C= | CA2395402847 | PEX26 | c.207C= (p.Ala69=)
| |
22 | g.18078583C>G | CA513184624 | PEX26 | c.207C>G (p.Ala69=)
| gnomAD v4 |
22 | g.18078583C>T | CA10093245 | PEX26 | c.207C>T (p.Ala69=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078584G>A | CA410265304 | PEX26 | c.208G>A (p.Val70Met)
| gnomAD v4 |
22 | g.18078584G>C | CA410265302 | PEX26 | c.208G>C (p.Val70Leu)
| |
22 | g.18078584G= | CA2395402848 | PEX26 | c.208G= (p.Val70=)
| |
22 | g.18078584G>T | CA10093246 | PEX26 | c.208G>T (p.Val70Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078585T>A | CA410265305 | PEX26 | c.209T>A (p.Val70Glu)
| |
22 | g.18078585T>C | CA410265307 | PEX26 | c.209T>C (p.Val70Ala)
| gnomAD v4 |
22 | g.18078585T>G | CA410265309 | PEX26 | c.209T>G (p.Val70Gly)
| |
22 | g.18078586G>A | CA513184625 | PEX26 | c.210G>A (p.Val70=)
| gnomAD v4 |
22 | g.18078586G>C | CA513184626 | PEX26 | c.210G>C (p.Val70=)
| |
22 | g.18078586G>T | CA513184627 | PEX26 | c.210G>T (p.Val70=)
| gnomAD v4 |
22 | g.18078587dup | CA2831039145 | PEX26 | c.211dup (p.Ala71GlyfsTer?)
| |
22 | g.18078587G>A | CA410265311 | PEX26 | c.211G>A (p.Ala71Thr)
| gnomAD v4 |
22 | g.18078587G>C | CA410265313 | PEX26 | c.211G>C (p.Ala71Pro)
| |
22 | g.18078587G= | CA2395402849 | PEX26 | c.211G= (p.Ala71=)
| |
22 | g.18078587G>T | CA410265315 | PEX26 | c.211G>T (p.Ala71Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078588C>A | CA410265318 | PEX26 | c.212C>A (p.Ala71Glu)
| gnomAD v4 |
22 | g.18078588C= | CA2395402850 | PEX26 | c.212C= (p.Ala71=)
| |
22 | g.18078588C>G | CA410265320 | PEX26 | c.212C>G (p.Ala71Gly)
| dbSNP |
22 | g.18078588C>T | CA410265322 | PEX26 | c.212C>T (p.Ala71Val)
| gnomAD v4 |
22 | g.18078589A>C | CA513184628 | PEX26 | c.213A>C (p.Ala71=)
| |
22 | g.18078589A>G | CA513184629 | PEX26 | c.213A>G (p.Ala71=)
| gnomAD v4 |
22 | g.18078589A>T | CA513184631 | PEX26 | c.213A>T (p.Ala71=)
| gnomAD v4 |
22 | g.18078590G>A | CA410265324 | PEX26 | c.214G>A (p.Glu72Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078590G>C | CA10093247 | PEX26 | c.214G>C (p.Glu72Gln)
| dbSNP ExAC gnomAD v4 |
22 | g.18078590G= | CA2395402851 | PEX26 | c.214G= (p.Glu72=)
| |
22 | g.18078590G>T | CA410265327 | PEX26 | c.214G>T (p.Glu72Ter)
| gnomAD v4 |
22 | g.18078591A>C | CA410265330 | PEX26 | c.215A>C (p.Glu72Ala)
| |
22 | g.18078591A>G | CA410265334 | PEX26 | c.215A>G (p.Glu72Gly)
| gnomAD v4 |
22 | g.18078591A>T | CA410265332 | PEX26 | c.215A>T (p.Glu72Val)
| gnomAD v4 |
22 | g.18078592G>A | CA513184635 | PEX26 | c.216G>A (p.Glu72=)
| |
22 | g.18078592G>C | CA410265337 | PEX26 | c.216G>C (p.Glu72Asp)
| |
22 | g.18078592G>T | CA410265339 | PEX26 | c.216G>T (p.Glu72Asp)
| gnomAD v4 |
22 | g.18078593G>A | CA410265342 | PEX26 | c.217G>A (p.Glu73Lys)
| gnomAD v4 |
22 | g.18078593G>C | CA10093248 | PEX26 | c.217G>C (p.Glu73Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078593G= | CA2395402852 | PEX26 | c.217G= (p.Glu73=)
| |
22 | g.18078593G>T | CA410265344 | PEX26 | c.217G>T (p.Glu73Ter)
| gnomAD v4 |
22 | g.18078594A= | CA2395402853 | PEX26 | c.218A= (p.Glu73=)
| |
22 | g.18078594A>C | CA410265349 | PEX26 | c.218A>C (p.Glu73Ala)
| |
22 | g.18078594A>G | CA410265350 | PEX26 | c.218A>G (p.Glu73Gly)
| |
22 | g.18078594A>T | CA10093249 | PEX26 | c.218A>T (p.Glu73Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078595A>C | CA410265354 | PEX26 | c.219A>C (p.Glu73Asp)
| |
22 | g.18078595A>G | CA513184638 | PEX26 | c.219A>G (p.Glu73=)
| |
22 | g.18078595A>T | CA410265356 | PEX26 | c.219A>T (p.Glu73Asp)
| |
22 | g.18078596C>A | CA410265362 | PEX26 | c.220C>A (p.Pro74Thr)
| gnomAD v4 |
22 | g.18078596C= | CA2395402854 | PEX26 | c.220C= (p.Pro74=)
| |
22 | g.18078596C>G | CA410265361 | PEX26 | c.220C>G (p.Pro74Ala)
| dbSNP |
22 | g.18078596C>T | CA410265359 | PEX26 | c.220C>T (p.Pro74Ser)
| gnomAD v4 |
22 | g.18078597C>A | CA410265366 | PEX26 | c.221C>A (p.Pro74His)
| gnomAD v4 |
22 | g.18078597C= | CA2395402855 | PEX26 | c.221C= (p.Pro74=)
| |
22 | g.18078597C>G | CA410265367 | PEX26 | c.221C>G (p.Pro74Arg)
| |
22 | g.18078597C>T | CA410265370 | PEX26 | c.221C>T (p.Pro74Leu)
| dbSNP |
22 | g.18078599_18079914del | CA913203502 | PEX26 | c.223_271del
| |
22 | g.18078598C>A | CA513184642 | PEX26 | c.222C>A (p.Pro74=)
| gnomAD v4 COSMIC |
22 | g.18078598C= | CA2395402856 | PEX26 | c.222C= (p.Pro74=)
| |
22 | g.18078598C>G | CA513184643 | PEX26 | c.222C>G (p.Pro74=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078598C>T | CA513184644 | PEX26 | c.222C>T (p.Pro74=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078599G>A | CA410265373 | PEX26 | c.223G>A (p.Ala75Thr)
| gnomAD v4 |
22 | g.18078599G>C | CA410265375 | PEX26 | c.223G>C (p.Ala75Pro)
| |
22 | g.18078599G>T | CA410265377 | PEX26 | c.223G>T (p.Ala75Ser)
| gnomAD v4 |
22 | g.18078600C>A | CA410265382 | PEX26 | c.224C>A (p.Ala75Glu)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.18078600C= | CA2395402857 | PEX26 | c.224C= (p.Ala75=)
| |
22 | g.18078600C>G | CA410265380 | PEX26 | c.224C>G (p.Ala75Gly)
| ClinVar |
22 | g.18078600C>T | CA410265381 | PEX26 | c.224C>T (p.Ala75Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
22 | g.18078601G>A | CA513184648 | PEX26 | c.225G>A (p.Ala75=)
| gnomAD v4 |
22 | g.18078601G>C | CA513184649 | PEX26 | c.225G>C (p.Ala75=)
| |
22 | g.18078601G>T | CA513184650 | PEX26 | c.225G>T (p.Ala75=)
| ClinVar gnomAD v4 |
22 | g.18078602G>A | CA410265385 | PEX26 | c.226G>A (p.Gly76Ser)
| gnomAD v4 |
22 | g.18078602G>C | CA410265387 | PEX26 | c.226G>C (p.Gly76Arg)
| |
22 | g.18078602G>T | CA410265389 | PEX26 | c.226G>T (p.Gly76Cys)
| gnomAD v4 |
22 | g.18078603G>A | CA10093250 | PEX26 | c.227G>A (p.Gly76Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.18078603G>C | CA410265391 | PEX26 | c.227G>C (p.Gly76Ala)
| |
22 | g.18078603G= | CA2395402858 | PEX26 | c.227G= (p.Gly76=)
| |
22 | g.18078603G>T | CA410265392 | PEX26 | c.227G>T (p.Gly76Val)
| ClinVar gnomAD v4 |
22 | g.18078604C>A | CA513184655 | PEX26 | c.228C>A (p.Gly76=)
| gnomAD v4 |
22 | g.18078604C= | CA2395402859 | PEX26 | c.228C= (p.Gly76=)
| |
22 | g.18078604C>G | CA513184654 | PEX26 | c.228C>G (p.Gly76=)
| gnomAD v4 |
22 | g.18078604C>T | CA236171 | PEX26 | c.228C>T (p.Gly76=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.18078605A= | CA2395402860 | PEX26 | c.229A= (p.Thr77=)
| |
22 | g.18078605A>C | CA410265397 | PEX26 | c.229A>C (p.Thr77Pro)
| dbSNP |
22 | g.18078605A>G | CA410265399 | PEX26 | c.229A>G (p.Thr77Ala)
| |
22 | g.18078605A>T | CA410265401 | PEX26 | c.229A>T (p.Thr77Ser)
| |
22 | g.18078606C>A | CA410265404 | PEX26 | c.230C>A (p.Thr77Asn)
| |
22 | g.18078606C>G | CA410265406 | PEX26 | c.230C>G (p.Thr77Ser)
| |
22 | g.18078606C>T | CA410265407 | PEX26 | c.230C>T (p.Thr77Ile)
| |
22 | g.18078607G>A | CA410265410 | PEX26 | c.230+1G>A (n.230+1G>A)
| ClinVar gnomAD v4 |
22 | g.18078607G>C | CA410265414 | PEX26 | c.230+1G>C (n.230+1G>C)
| dbSNP gnomAD v4 COSMIC |
22 | g.18078607G= | CA2395402861 | PEX26 | c.230+1G= (n.230+1G=)
| |
22 | g.18078607G>T | CA115377 | PEX26 | c.230+1G>T (n.230+1G>T)
| ClinVar dbSNP gnomAD v4 |
22 | g.18078608T>A | CA410265417 | PEX26 | c.230+2T>A (n.230+2T>A)
| |
22 | g.18078608T>C | CA410265419 | PEX26 | c.230+2T>C (n.230+2T>C)
| gnomAD v4 |
22 | g.18078608T>G | CA410265421 | PEX26 | c.230+2T>G (n.230+2T>G)
| |
22 | g.18078609A= | CA2395402862 | PEX26 | c.230+3A= (n.230+3A=)
| |
22 | g.18078609A>C | CA513184658 | PEX26 | c.230+3A>C (n.230+3A>C)
| |
22 | g.18078609A>G | CA10093251 | PEX26 | c.230+3A>G (n.230+3A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.18078609A>T | CA513184659 | PEX26 | c.230+3A>T (n.230+3A>T)
| |
22 | g.18078611_18078631del | CA2577641363 | PEX26 | c.230+5_230+25del (n.230+5_230+25del)
| |