Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.136826383A>C | CA365855856 | PEX7 | c.253A>C (p.Thr85Pro) c.128A>C c.139A>C (p.Thr47Pro) c.258A>C (n.258A>C) c.133A>C (p.Thr45Pro) | |
6 | g.136826383A>G | CA4017539 | PEX7 | c.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 |
6 | g.136826383A>T | CA365855855 | PEX7 | c.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 |
6 | g.136826384C>A | CA365855857 | PEX7 | c.254C>A (p.Thr85Asn) c.129C>A c.140C>A (p.Thr47Asn) c.259C>A (n.259C>A) c.134C>A (p.Thr45Asn) | |
6 | g.136826384C>G | CA365855858 | PEX7 | c.254C>G (p.Thr85Ser) c.129C>G c.140C>G (p.Thr47Ser) c.259C>G (n.259C>G) c.134C>G (p.Thr45Ser) | |
6 | g.136826384C>T | CA365855859 | PEX7 | c.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 |
6 | g.136826385C>A | CA452376638 | PEX7 | c.255C>A (p.Thr85=) c.130C>A c.141C>A (p.Thr47=) c.260C>A (n.260C>A) c.135C>A (p.Thr45=) | |
6 | g.136826385C>G | CA4017540 | PEX7 | c.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 |
6 | g.136826385C>T | CA452376639 | PEX7 | c.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 |
6 | g.136826386T>A | CA365855860 | PEX7 | c.256T>A (p.Cys86Ser) c.131T>A c.142T>A (p.Cys48Ser) c.261T>A (n.261T>A) c.136T>A (p.Cys46Ser) | |
6 | g.136826386T>C | CA365855861 | PEX7 | c.256T>C (p.Cys86Arg) c.131T>C c.142T>C (p.Cys48Arg) c.261T>C (n.261T>C) c.136T>C (p.Cys46Arg) | |
6 | g.136826386T>G | CA365855862 | PEX7 | c.256T>G (p.Cys86Gly) c.131T>G c.142T>G (p.Cys48Gly) c.261T>G (n.261T>G) c.136T>G (p.Cys46Gly) | |
6 | g.136826387G>A | CA365855863 | PEX7 | c.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 |
6 | g.136826387G>C | CA365855864 | PEX7 | c.257G>C (p.Cys86Ser) c.132G>C c.143G>C (p.Cys48Ser) c.262G>C (n.262G>C) c.137G>C (p.Cys46Ser) | |
6 | g.136826387G>T | CA148641172 | PEX7 | c.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 |
6 | g.136826388T>A | CA365855865 | PEX7 | c.258T>A (p.Cys86Ter) c.133T>A c.144T>A (p.Cys48Ter) c.263T>A (n.263T>A) c.138T>A (p.Cys46Ter) | |
6 | g.136826388T>C | CA452376645 | PEX7 | c.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 |
6 | g.136826388T>G | CA365855866 | PEX7 | c.258T>G (p.Cys86Trp) c.133T>G c.144T>G (p.Cys48Trp) c.263T>G (n.263T>G) c.138T>G (p.Cys46Trp) | |
6 | g.136826389A>C | CA365855869 | PEX7 | c.259A>C (p.Ser87Arg) c.134A>C c.145A>C (p.Ser49Arg) c.264A>C (n.264A>C) c.139A>C (p.Ser47Arg) | |
6 | g.136826389A>G | CA365855868 | PEX7 | c.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 |
6 | g.136826389A>T | CA365855867 | PEX7 | c.259A>T (p.Ser87Cys) c.134A>T c.145A>T (p.Ser49Cys) c.264A>T (n.264A>T) c.139A>T (p.Ser47Cys) | |
6 | g.136826390G>A | CA365855870 | PEX7 | c.260G>A (p.Ser87Asn) c.135G>A c.146G>A (p.Ser49Asn) c.265G>A (n.265G>A) c.140G>A (p.Ser47Asn) | |
6 | g.136826390G>C | CA365855871 | PEX7 | c.260G>C (p.Ser87Thr) c.135G>C c.146G>C (p.Ser49Thr) c.265G>C (n.265G>C) c.140G>C (p.Ser47Thr) | |
6 | g.136826390G>T | CA365855872 | PEX7 | c.260G>T (p.Ser87Ile) c.135G>T c.146G>T (p.Ser49Ile) c.265G>T (n.265G>T) c.140G>T (p.Ser47Ile) | |
6 | g.136826391T>A | CA365855873 | PEX7 | c.261T>A (p.Ser87Arg) c.136T>A c.147T>A (p.Ser49Arg) c.266T>A (n.266T>A) c.141T>A (p.Ser47Arg) | |
6 | g.136826391T>C | CA452376657 | PEX7 | c.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 |
6 | g.136826391T>G | CA365855874 | PEX7 | c.261T>G (p.Ser87Arg) c.136T>G c.147T>G (p.Ser49Arg) c.266T>G (n.266T>G) c.141T>G (p.Ser47Arg) | |
6 | g.136826392G>A | CA365855875 | PEX7 | c.262G>A (p.Gly88Ser) c.137G>A c.148G>A (p.Gly50Ser) c.267G>A (n.267G>A) c.142G>A (p.Gly48Ser) | |
6 | g.136826392G>C | CA365855876 | PEX7 | c.262G>C (p.Gly88Arg) c.137G>C c.148G>C (p.Gly50Arg) c.267G>C (n.267G>C) c.142G>C (p.Gly48Arg) | |
6 | g.136826392G>T | CA365855877 | PEX7 | c.262G>T (p.Gly88Cys) c.137G>T c.148G>T (p.Gly50Cys) c.267G>T (n.267G>T) c.142G>T (p.Gly48Cys) | |
6 | g.136826393G>A | CA365855878 | PEX7 | c.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 |
6 | g.136826393G>C | CA365855880 | PEX7 | c.263G>C (p.Gly88Ala) c.138G>C c.149G>C (p.Gly50Ala) c.268G>C (n.268G>C) c.143G>C (p.Gly48Ala) | |
6 | g.136826393G>T | CA365855879 | PEX7 | c.263G>T (p.Gly88Val) c.138G>T c.149G>T (p.Gly50Val) c.268G>T (n.268G>T) c.143G>T (p.Gly48Val) | |
6 | g.136826394C>A | CA452376670 | PEX7 | c.264C>A (p.Gly88=) c.139C>A c.150C>A (p.Gly50=) c.269C>A (n.269C>A) c.144C>A (p.Gly48=) | ClinVar |
6 | g.136826394C>G | CA452376673 | PEX7 | c.264C>G (p.Gly88=) c.139C>G c.150C>G (p.Gly50=) c.269C>G (n.269C>G) c.144C>G (p.Gly48=) | |
6 | g.136826394C>T | CA4017541 | PEX7 | c.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 |
6 | g.136826395G>A | CA4017542 | PEX7 | c.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 |
6 | g.136826395G>C | CA365855881 | PEX7 | c.265G>C (p.Asp89His) c.140G>C c.151G>C (p.Asp51His) c.270G>C (n.270G>C) c.145G>C (p.Asp49His) | |
6 | g.136826395G>T | CA365855882 | PEX7 | c.265G>T (p.Asp89Tyr) c.140G>T c.151G>T (p.Asp51Tyr) c.270G>T (n.270G>T) c.145G>T (p.Asp49Tyr) | |
6 | g.136826396A>C | CA365855883 | PEX7 | c.266A>C (p.Asp89Ala) c.141A>C c.152A>C (p.Asp51Ala) c.271A>C (n.271A>C) c.146A>C (p.Asp49Ala) | |
6 | g.136826396A>G | CA365855885 | PEX7 | c.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 |
6 | g.136826396A>T | CA365855884 | PEX7 | c.266A>T (p.Asp89Val) c.141A>T c.152A>T (p.Asp51Val) c.271A>T (n.271A>T) c.146A>T (p.Asp49Val) | |
6 | g.136826397T>A | CA365855886 | PEX7 | c.267T>A (p.Asp89Glu) c.142T>A c.153T>A (p.Asp51Glu) c.272T>A (n.272T>A) c.147T>A (p.Asp49Glu) | |
6 | g.136826397T>C | CA452376690 | PEX7 | c.267T>C (p.Asp89=) c.142T>C c.153T>C (p.Asp51=) c.272T>C (n.272T>C) c.147T>C (p.Asp49=) | |
6 | g.136826397T>G | CA365855887 | PEX7 | c.267T>G (p.Asp89Glu) c.142T>G c.153T>G (p.Asp51Glu) c.272T>G (n.272T>G) c.147T>G (p.Asp49Glu) | |
6 | g.136826398G>A | CA365855888 | PEX7 | c.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 |
6 | g.136826398G>C | CA365855889 | PEX7 | c.268G>C (p.Gly90Arg) c.143G>C c.154G>C (p.Gly52Arg) c.273G>C (n.273G>C) c.148G>C (p.Gly50Arg) | |
6 | g.136826398G>T | CA365855890 | PEX7 | c.268G>T (p.Gly90Cys) c.143G>T c.154G>T (p.Gly52Cys) c.273G>T (n.273G>T) c.148G>T (p.Gly50Cys) | |
6 | g.136826399G>A | CA365855891 | PEX7 | c.269G>A (p.Gly90Asp) c.144G>A c.155G>A (p.Gly52Asp) c.274G>A (n.274G>A) c.149G>A (p.Gly50Asp) | |
6 | g.136826399G>C | CA365855892 | PEX7 | c.269G>C (p.Gly90Ala) c.144G>C c.155G>C (p.Gly52Ala) c.274G>C (n.274G>C) c.149G>C (p.Gly50Ala) |