| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136826313G>A | CA2680489146 | PEX7 | c.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 |
| 6 | g.136826314T>C | CA2680489147 | PEX7 | c.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 |
| 6 | g.136826314T>G | CA4017525 | PEX7 | c.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 |
| 6 | g.136826315G>A | CA2580075088 | PEX7 | c.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 |
| 6 | g.136826317A>C | CA365855704 | PEX7 | c.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) | |
| 6 | g.136826317A>G | CA365855702 | PEX7 | c.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 |
| 6 | g.136826317A>T | CA365855703 | PEX7 | c.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) | |
| 6 | g.136826318G>A | CA365855705 | PEX7 | c.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) | |
| 6 | g.136826318G>C | CA365855706 | PEX7 | c.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) | |
| 6 | g.136826318G>T | CA365855707 | PEX7 | c.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) | |
| 6 | g.136826319C>A | CA365855708 | PEX7 | c.189C>A (p.Ser63Arg) c.64C>A c.75C>A (p.Ser25Arg) c.194C>A (p.Ala65Asp) c.69C>A (p.Ser23Arg) | gnomAD v4 |
| 6 | g.136826319C>G | CA365855709 | PEX7 | c.189C>G (p.Ser63Arg) c.64C>G c.75C>G (p.Ser25Arg) c.194C>G (p.Ala65Gly) c.69C>G (p.Ser23Arg) | |
| 6 | g.136826319C>T | CA452376232 | PEX7 | c.189C>T (p.Ser63=) c.64C>T c.75C>T (p.Ser25=) c.194C>T (p.Ala65Val) c.69C>T (p.Ser23=) | |
| 6 | g.136826320T>A | CA365855710 | PEX7 | c.190T>A (p.Phe64Ile) c.65T>A c.76T>A (p.Phe26Ile) c.195T>A (p.Ala65=) c.70T>A (p.Phe24Ile) | |
| 6 | g.136826320T>C | CA365855711 | PEX7 | c.190T>C (p.Phe64Leu) c.65T>C c.76T>C (p.Phe26Leu) c.195T>C (p.Ala65=) c.70T>C (p.Phe24Leu) | |
| 6 | g.136826320T>G | CA365855712 | PEX7 | c.190T>G (p.Phe64Val) c.65T>G c.76T>G (p.Phe26Val) c.195T>G (p.Ala65=) c.70T>G (p.Phe24Val) | |
| 6 | g.136826322del | CA915940607 | PEX7 | c.192del (p.Phe64LeufsTer10) c.67del c.78del (p.Phe26LeufsTer10) c.197del (p.Leu66Ter) c.72del (p.Phe24LeufsTer10) | |
| 6 | g.136826321T>A | CA365855713 | PEX7 | c.191T>A (p.Phe64Tyr) c.66T>A c.77T>A (p.Phe26Tyr) c.196T>A (p.Leu66Met) c.71T>A (p.Phe24Tyr) | |
| 6 | g.136826321T>C | CA365855714 | PEX7 | c.191T>C (p.Phe64Ser) c.66T>C c.77T>C (p.Phe26Ser) c.196T>C (p.Leu66=) c.71T>C (p.Phe24Ser) | |
| 6 | g.136826321T>G | CA365855715 | PEX7 | c.191T>G (p.Phe64Cys) c.66T>G c.77T>G (p.Phe26Cys) c.196T>G (p.Leu66Val) c.71T>G (p.Phe24Cys) | |
| 6 | g.136826322T>A | CA365855716 | PEX7 | c.192T>A (p.Phe64Leu) c.67T>A c.78T>A (p.Phe26Leu) c.197T>A (p.Leu66Ter) c.72T>A (p.Phe24Leu) | |
| 6 | g.136826322T>C | CA452376248 | PEX7 | c.192T>C (p.Phe64=) c.67T>C c.78T>C (p.Phe26=) c.197T>C (p.Leu66Ser) c.72T>C (p.Phe24=) | |
| 6 | g.136826322T>G | CA365855717 | PEX7 | c.192T>G (p.Phe64Leu) c.67T>G c.78T>G (p.Phe26Leu) c.197T>G (p.Leu66Trp) c.72T>G (p.Phe24Leu) | |
| 6 | g.136826323G>A | CA365855718 | PEX7 | c.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 |
| 6 | g.136826323G>C | CA365855719 | PEX7 | c.193G>C (p.Asp65His) c.68G>C c.79G>C (p.Asp27His) c.198G>C (p.Leu66Phe) c.73G>C (p.Asp25His) | |
| 6 | g.136826323G>T | CA365855720 | PEX7 | c.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 |
| 6 | g.136826324A>C | CA365855721 | PEX7 | c.194A>C (p.Asp65Ala) c.69A>C c.80A>C (p.Asp27Ala) c.199A>C (p.Thr67Pro) c.74A>C (p.Asp25Ala) | |
| 6 | g.136826324A>G | CA365855722 | PEX7 | c.194A>G (p.Asp65Gly) c.69A>G c.80A>G (p.Asp27Gly) c.199A>G (p.Thr67Ala) c.74A>G (p.Asp25Gly) | |
| 6 | g.136826324A>T | CA365855723 | PEX7 | c.194A>T (p.Asp65Val) c.69A>T c.80A>T (p.Asp27Val) c.199A>T (p.Thr67Ser) c.74A>T (p.Asp25Val) | |
| 6 | g.136826325C>A | CA365855724 | PEX7 | c.195C>A (p.Asp65Glu) c.70C>A c.81C>A (p.Asp27Glu) c.200C>A (p.Thr67Asn) c.75C>A (p.Asp25Glu) | |
| 6 | g.136826325C>G | CA365855725 | PEX7 | c.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 |
| 6 | g.136826325C>T | CA452376279 | PEX7 | c.195C>T (p.Asp65=) c.70C>T c.81C>T (p.Asp27=) c.200C>T (p.Thr67Ile) c.75C>T (p.Asp25=) | |
| 6 | g.136826325_136826326del | CA2695207124 | PEX7 | c.195_196del (p.Asp65GlufsTer3) c.70_71del c.81_82del (p.Asp27GlufsTer3) c.200_201del (p.Thr67ArgfsTer?) c.75_76del (p.Asp25GlufsTer3) | |
| 6 | g.136826326T>A | CA365855726 | PEX7 | c.196T>A (p.Trp66Arg) c.71T>A c.82T>A (p.Trp28Arg) c.201T>A (p.Thr67=) c.76T>A (p.Trp26Arg) | |
| 6 | g.136826326T>C | CA365855727 | PEX7 | c.196T>C (p.Trp66Arg) c.71T>C c.82T>C (p.Trp28Arg) c.201T>C (p.Thr67=) c.76T>C (p.Trp26Arg) | |
| 6 | g.136826326T>G | CA365855728 | PEX7 | c.196T>G (p.Trp66Gly) c.71T>G c.82T>G (p.Trp28Gly) c.201T>G (p.Thr67=) c.76T>G (p.Trp26Gly) | |
| 6 | g.136826327G>A | CA365855731 | PEX7 | c.197G>A (p.Trp66Ter) c.72G>A c.83G>A (p.Trp28Ter) c.202G>A (p.Gly68Arg) c.77G>A (p.Trp26Ter) | |
| 6 | g.136826327G>C | CA365855730 | PEX7 | c.197G>C (p.Trp66Ser) c.72G>C c.83G>C (p.Trp28Ser) c.202G>C (p.Gly68Arg) c.77G>C (p.Trp26Ser) | |
| 6 | g.136826327G>T | CA365855729 | PEX7 | c.197G>T (p.Trp66Leu) c.72G>T c.83G>T (p.Trp28Leu) c.202G>T (p.Gly68Ter) c.77G>T (p.Trp26Leu) | |
| 6 | g.136826328G>A | CA4017526 | PEX7 | c.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 |
| 6 | g.136826328G>C | CA365855732 | PEX7 | c.198G>C (p.Trp66Cys) c.73G>C c.84G>C (p.Trp28Cys) c.203G>C (p.Gly68Ala) c.78G>C (p.Trp26Cys) | |
| 6 | g.136826328G>T | CA365855733 | PEX7 | c.198G>T (p.Trp66Cys) c.73G>T c.84G>T (p.Trp28Cys) c.203G>T (p.Gly68Val) c.78G>T (p.Trp26Cys) | gnomAD v4 |
| 6 | g.136826329A>C | CA4017527 | PEX7 | c.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 |
| 6 | g.136826329A>G | CA365855734 | PEX7 | c.199A>G (p.Asn67Asp) c.74A>G c.85A>G (p.Asn29Asp) c.204A>G (p.Gly68=) c.79A>G (p.Asn27Asp) | gnomAD v4 |
| 6 | g.136826329A>T | CA365855735 | PEX7 | c.199A>T (p.Asn67Tyr) c.74A>T c.85A>T (p.Asn29Tyr) c.204A>T (p.Gly68=) c.79A>T (p.Asn27Tyr) | |
| 6 | g.136826330A>C | CA365855736 | PEX7 | c.200A>C (p.Asn67Thr) c.75A>C c.86A>C (p.Asn29Thr) c.205A>C (p.Met69Leu) c.80A>C (p.Asn27Thr) | |
| 6 | g.136826330A>G | CA365855737 | PEX7 | c.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 |
| 6 | g.136826330A>T | CA365855738 | PEX7 | c.200A>T (p.Asn67Ile) c.75A>T c.86A>T (p.Asn29Ile) c.205A>T (p.Met69Leu) c.80A>T (p.Asn27Ile) | |
| 6 | g.136826331T>A | CA365855739 | PEX7 | c.201T>A (p.Asn67Lys) c.76T>A c.87T>A (p.Asn29Lys) c.206T>A (p.Met69Lys) c.81T>A (p.Asn27Lys) | |
| 6 | g.136826331T>C | CA452376311 | PEX7 | c.201T>C (p.Asn67=) c.76T>C c.87T>C (p.Asn29=) c.206T>C (p.Met69Thr) c.81T>C (p.Asn27=) | ClinVar |
| 6 | g.136826331T>G | CA365855740 | PEX7 | c.201T>G (p.Asn67Lys) c.76T>G c.87T>G (p.Asn29Lys) c.206T>G (p.Met69Arg) c.81T>G (p.Asn27Lys) | |
| 6 | g.136826332G>A | CA365855743 | PEX7 | c.202G>A (p.Asp68Asn) c.77G>A c.88G>A (p.Asp30Asn) c.207G>A (p.Met69Ile) c.82G>A (p.Asp28Asn) | gnomAD v4 |
| 6 | g.136826332G>C | CA365855742 | PEX7 | c.202G>C (p.Asp68His) c.77G>C c.88G>C (p.Asp30His) c.207G>C (p.Met69Ile) c.82G>C (p.Asp28His) | |
| 6 | g.136826332G>T | CA365855741 | PEX7 | c.202G>T (p.Asp68Tyr) c.77G>T c.88G>T (p.Asp30Tyr) c.207G>T (p.Met69Ile) c.82G>T (p.Asp28Tyr) | |
| 6 | g.136826333A>C | CA365855744 | PEX7 | c.203A>C (p.Asp68Ala) c.78A>C c.89A>C (p.Asp30Ala) c.208A>C (p.Met70Leu) c.83A>C (p.Asp28Ala) | |
| 6 | g.136826333A>G | CA365855745 | PEX7 | c.203A>G (p.Asp68Gly) c.78A>G c.89A>G (p.Asp30Gly) c.208A>G (p.Met70Val) c.83A>G (p.Asp28Gly) | |
| 6 | g.136826333A>T | CA4017528 | PEX7 | c.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 |
| 6 | g.136826334T>A | CA365855746 | PEX7 | c.204T>A (p.Asp68Glu) c.79T>A c.90T>A (p.Asp30Glu) c.209T>A (p.Met70Lys) c.84T>A (p.Asp28Glu) | |
| 6 | g.136826334T>C | CA452376329 | PEX7 | c.204T>C (p.Asp68=) c.79T>C c.90T>C (p.Asp30=) c.209T>C (p.Met70Thr) c.84T>C (p.Asp28=) | |
| 6 | g.136826334T>G | CA365855747 | PEX7 | c.204T>G (p.Asp68Glu) c.79T>G c.90T>G (p.Asp30Glu) c.209T>G (p.Met70Arg) c.84T>G (p.Asp28Glu) | |
| 6 | g.136826335G>A | CA365855748 | PEX7 | c.205G>A (p.Gly69Ser) c.80G>A c.91G>A (p.Gly31Ser) c.210G>A (p.Met70Ile) c.85G>A (p.Gly29Ser) | |
| 6 | g.136826335G>C | CA365855749 | PEX7 | c.205G>C (p.Gly69Arg) c.80G>C c.91G>C (p.Gly31Arg) c.210G>C (p.Met70Ile) c.85G>C (p.Gly29Arg) | |
| 6 | g.136826335G>T | CA365855750 | PEX7 | c.205G>T (p.Gly69Cys) c.80G>T c.91G>T (p.Gly31Cys) c.210G>T (p.Met70Ile) c.85G>T (p.Gly29Cys) | |
| 6 | g.136826336del | CA2580075089 | PEX7 | c.206del (p.Gly69ValfsTer5) c.81del c.92del (p.Gly31ValfsTer5) c.211del (p.Val71PhefsTer3) c.86del (p.Gly29ValfsTer5) | ClinVar |
| 6 | g.136826336G>A | CA365855751 | PEX7 | c.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 |
| 6 | g.136826336G>C | CA365855752 | PEX7 | c.206G>C (p.Gly69Ala) c.81G>C c.92G>C (p.Gly31Ala) c.211G>C (p.Val71Leu) c.86G>C (p.Gly29Ala) | |
| 6 | g.136826336G>T | CA365855753 | PEX7 | c.206G>T (p.Gly69Val) c.81G>T c.92G>T (p.Gly31Val) c.211G>T (p.Val71Phe) c.86G>T (p.Gly29Val) | |
| 6 | g.136826337T>A | CA452376342 | PEX7 | c.207T>A (p.Gly69=) c.82T>A c.93T>A (p.Gly31=) c.212T>A (p.Val71Asp) c.87T>A (p.Gly29=) | |
| 6 | g.136826337T>C | CA452376345 | PEX7 | c.207T>C (p.Gly69=) c.82T>C c.93T>C (p.Gly31=) c.212T>C (p.Val71Ala) c.87T>C (p.Gly29=) | |
| 6 | g.136826337T>G | CA452376348 | PEX7 | c.207T>G (p.Gly69=) c.82T>G c.93T>G (p.Gly31=) c.212T>G (p.Val71Gly) c.87T>G (p.Gly29=) | |
| 6 | g.136826339dup | CA2831038958 | PEX7 | c.209dup (p.Leu70PhefsTer3) c.84dup c.95dup (p.Leu32PhefsTer3) c.214dup (p.Cys72LeufsTer?) c.89dup (p.Leu30PhefsTer3) | |
| 6 | g.136826338T>A | CA365855754 | PEX7 | c.208T>A (p.Leu70Met) c.83T>A c.94T>A (p.Leu32Met) c.213T>A (p.Val71=) c.88T>A (p.Leu30Met) | |
| 6 | g.136826338T>C | CA452376352 | PEX7 | c.208T>C (p.Leu70=) c.83T>C c.94T>C (p.Leu32=) c.213T>C (p.Val71=) c.88T>C (p.Leu30=) | ClinVar dbSNP |
| 6 | g.136826338T>G | CA365855755 | PEX7 | c.208T>G (p.Leu70Val) c.83T>G c.94T>G (p.Leu32Val) c.213T>G (p.Val71=) c.88T>G (p.Leu30Val) | dbSNP |
| 6 | g.136826339T>A | CA365855757 | PEX7 | c.209T>A (p.Leu70Ter) c.84T>A c.95T>A (p.Leu32Ter) c.214T>A (p.Cys72Ser) c.89T>A (p.Leu30Ter) | |
| 6 | g.136826339T>C | CA365855758 | PEX7 | c.209T>C (p.Leu70Ser) c.84T>C c.95T>C (p.Leu32Ser) c.214T>C (p.Cys72Arg) c.89T>C (p.Leu30Ser) | |
| 6 | g.136826339T>G | CA365855756 | PEX7 | c.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 |
| 6 | g.136826340G>A | CA452376361 | PEX7 | c.210G>A (p.Leu70=) c.85G>A c.96G>A (p.Leu32=) c.215G>A (p.Cys72Tyr) c.90G>A (p.Leu30=) | |
| 6 | g.136826340G>C | CA365855759 | PEX7 | c.210G>C (p.Leu70Phe) c.85G>C c.96G>C (p.Leu32Phe) c.215G>C (p.Cys72Ser) c.90G>C (p.Leu30Phe) | COSMIC |
| 6 | g.136826340G>T | CA148641168 | PEX7 | c.210G>T (p.Leu70Phe) c.85G>T c.96G>T (p.Leu32Phe) c.215G>T (p.Cys72Phe) c.90G>T (p.Leu30Phe) | dbSNP |
| 6 | g.136826341T>A | CA365855760 | PEX7 | c.211T>A (p.Phe71Ile) c.86T>A c.97T>A (p.Phe33Ile) c.216T>A (p.Cys72Ter) c.91T>A (p.Phe31Ile) | |
| 6 | g.136826341T>C | CA365855761 | PEX7 | c.211T>C (p.Phe71Leu) c.86T>C c.97T>C (p.Phe33Leu) c.216T>C (p.Cys72=) c.91T>C (p.Phe31Leu) | |
| 6 | g.136826341T>G | CA365855762 | PEX7 | c.211T>G (p.Phe71Val) c.86T>G c.97T>G (p.Phe33Val) c.216T>G (p.Cys72Trp) c.91T>G (p.Phe31Val) | |
| 6 | g.136826343del | CA570744614 | PEX7 | c.213del (p.Phe71LeufsTer3) c.88del c.99del (p.Phe33LeufsTer3) c.218del (p.Leu73Ter) c.93del (p.Phe31LeufsTer3) | ClinVar dbSNP gnomAD v2 |
| 6 | g.136826342T>A | CA365855763 | PEX7 | c.212T>A (p.Phe71Tyr) c.87T>A c.98T>A (p.Phe33Tyr) c.217T>A (p.Leu73Met) c.92T>A (p.Phe31Tyr) | |
| 6 | g.136826342T>C | CA148641169 | PEX7 | c.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 |
| 6 | g.136826342T>G | CA365855764 | PEX7 | c.212T>G (p.Phe71Cys) c.87T>G c.98T>G (p.Phe33Cys) c.217T>G (p.Leu73Val) c.92T>G (p.Phe31Cys) | |
| 6 | g.136826343T>A | CA365855765 | PEX7 | c.213T>A (p.Phe71Leu) c.88T>A c.99T>A (p.Phe33Leu) c.218T>A (p.Leu73Ter) c.93T>A (p.Phe31Leu) | |
| 6 | g.136826343T>C | CA452376384 | PEX7 | c.213T>C (p.Phe71=) c.88T>C c.99T>C (p.Phe33=) c.218T>C (p.Leu73Ser) c.93T>C (p.Phe31=) | |
| 6 | g.136826343T>G | CA365855766 | PEX7 | c.213T>G (p.Phe71Leu) c.88T>G c.99T>G (p.Phe33Leu) c.218T>G (p.Leu73Trp) c.93T>G (p.Phe31Leu) | |
| 6 | g.136826344G>A | CA365855767 | PEX7 | c.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 |
| 6 | g.136826344G>C | CA365855768 | PEX7 | c.214G>C (p.Asp72His) c.89G>C c.100G>C (p.Asp34His) c.219G>C (p.Leu73Phe) c.94G>C (p.Asp32His) | |
| 6 | g.136826344G>T | CA365855769 | PEX7 | c.214G>T (p.Asp72Tyr) c.89G>T c.100G>T (p.Asp34Tyr) c.219G>T (p.Leu73Phe) c.94G>T (p.Asp32Tyr) | gnomAD v4 |
| 6 | g.136826345A>C | CA365855772 | PEX7 | c.215A>C (p.Asp72Ala) c.90A>C c.101A>C (p.Asp34Ala) c.220A>C (p.Met74Leu) c.95A>C (p.Asp32Ala) | |
| 6 | g.136826345A>G | CA365855771 | PEX7 | c.215A>G (p.Asp72Gly) c.90A>G c.101A>G (p.Asp34Gly) c.220A>G (p.Met74Val) c.95A>G (p.Asp32Gly) | |
| 6 | g.136826345A>T | CA365855770 | PEX7 | c.215A>T (p.Asp72Val) c.90A>T c.101A>T (p.Asp34Val) c.220A>T (p.Met74Leu) c.95A>T (p.Asp32Val) | gnomAD v4 |
| 6 | g.136826346T>A | CA365855773 | PEX7 | c.216T>A (p.Asp72Glu) c.91T>A c.102T>A (p.Asp34Glu) c.221T>A (p.Met74Lys) c.96T>A (p.Asp32Glu) | gnomAD v4 |
| 6 | g.136826346T>C | CA452376402 | PEX7 | c.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 |
| 6 | g.136826346T>G | CA365855774 | PEX7 | c.216T>G (p.Asp72Glu) c.91T>G c.102T>G (p.Asp34Glu) c.221T>G (p.Met74Arg) c.96T>G (p.Asp32Glu) | |
| 6 | g.136826347G>A | CA4017529 | PEX7 | c.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 |
| 6 | g.136826347G>C | CA365855775 | PEX7 | c.217G>C (p.Val73Leu) c.92G>C c.103G>C (p.Val35Leu) c.222G>C (p.Met74Ile) c.97G>C (p.Val33Leu) | |
| 6 | g.136826347G>T | CA365855776 | PEX7 | c.217G>T (p.Val73Leu) c.92G>T c.103G>T (p.Val35Leu) c.222G>T (p.Met74Ile) c.97G>T (p.Val33Leu) | |
| 6 | g.136826348T>A | CA365855777 | PEX7 | c.218T>A (p.Val73Glu) c.93T>A c.104T>A (p.Val35Glu) c.223T>A (p.Ter75Arg) c.98T>A (p.Val33Glu) | |
| 6 | g.136826348T>C | CA365855778 | PEX7 | c.218T>C (p.Val73Ala) c.93T>C c.104T>C (p.Val35Ala) c.223T>C (p.Ter75Arg) c.98T>C (p.Val33Ala) | |
| 6 | g.136826348T>G | CA365855779 | PEX7 | c.218T>G (p.Val73Gly) c.93T>G c.104T>G (p.Val35Gly) c.223T>G (p.Ter75Gly) c.98T>G (p.Val33Gly) | |
| 6 | g.136826349G>A | CA452376423 | PEX7 | c.219G>A (p.Val73=) c.94G>A c.105G>A (p.Val35=) c.224G>A (p.Ter75=) c.99G>A (p.Val33=) | COSMIC |
| 6 | g.136826349G>C | CA452376420 | PEX7 | c.219G>C (p.Val73=) c.94G>C c.105G>C (p.Val35=) c.224G>C (p.Ter75Ser) c.99G>C (p.Val33=) | |
| 6 | g.136826349G>T | CA452376417 | PEX7 | c.219G>T (p.Val73=) c.94G>T c.105G>T (p.Val35=) c.224G>T (p.Ter75Leu) c.99G>T (p.Val33=) | gnomAD v4 |
| 6 | g.136826350A>C | CA365855780 | PEX7 | c.220A>C (p.Thr74Pro) c.95A>C c.106A>C (p.Thr36Pro) c.225A>C (p.Ter75Cys) c.100A>C (p.Thr34Pro) | |
| 6 | g.136826350A>G | CA365855781 | PEX7 | c.220A>G (p.Thr74Ala) c.95A>G c.106A>G (p.Thr36Ala) c.225A>G (p.Ter75Trp) c.100A>G (p.Thr34Ala) | |
| 6 | g.136826350A>T | CA365855782 | PEX7 | c.220A>T (p.Thr74Ser) c.95A>T c.106A>T (p.Thr36Ser) c.225A>T (p.Ter75Cys) c.100A>T (p.Thr34Ser) | |
| 6 | g.136826351C>A | CA365855783 | PEX7 | c.221C>A (p.Thr74Asn) c.96C>A c.107C>A (p.Thr36Asn) c.226C>A (n.226C>A) c.101C>A (p.Thr34Asn) | |
| 6 | g.136826351C>G | CA365855784 | PEX7 | c.221C>G (p.Thr74Ser) c.96C>G c.107C>G (p.Thr36Ser) c.226C>G (n.226C>G) c.101C>G (p.Thr34Ser) | |
| 6 | g.136826351C>T | CA365855785 | PEX7 | c.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 |
| 6 | g.136826352T>A | CA452376445 | PEX7 | c.222T>A (p.Thr74=) c.97T>A c.108T>A (p.Thr36=) c.227T>A (n.227T>A) c.102T>A (p.Thr34=) | |
| 6 | g.136826352T>C | CA452376446 | PEX7 | c.222T>C (p.Thr74=) c.97T>C c.108T>C (p.Thr36=) c.227T>C (n.227T>C) c.102T>C (p.Thr34=) | |
| 6 | g.136826352T>G | CA452376448 | PEX7 | c.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 |
| 6 | g.136826353T>A | CA365855787 | PEX7 | c.223T>A (p.Trp75Arg) c.98T>A c.109T>A (p.Trp37Arg) c.228T>A (n.228T>A) c.103T>A (p.Trp35Arg) | |
| 6 | g.136826353T>C | CA365855788 | PEX7 | c.223T>C (p.Trp75Arg) c.98T>C c.109T>C (p.Trp37Arg) c.228T>C (n.228T>C) c.103T>C (p.Trp35Arg) | |
| 6 | g.136826353T>G | CA365855786 | PEX7 | c.223T>G (p.Trp75Gly) c.98T>G c.109T>G (p.Trp37Gly) c.228T>G (n.228T>G) c.103T>G (p.Trp35Gly) | |
| 6 | g.136826354G>A | CA365855789 | PEX7 | c.224G>A (p.Trp75Ter) c.99G>A c.110G>A (p.Trp37Ter) c.229G>A (n.229G>A) c.104G>A (p.Trp35Ter) | ClinVar |
| 6 | g.136826354G>C | CA365855790 | PEX7 | c.224G>C (p.Trp75Ser) c.99G>C c.110G>C (p.Trp37Ser) c.229G>C (n.229G>C) c.104G>C (p.Trp35Ser) | |
| 6 | g.136826354G>T | CA365855791 | PEX7 | c.224G>T (p.Trp75Leu) c.99G>T c.110G>T (p.Trp37Leu) c.229G>T (n.229G>T) c.104G>T (p.Trp35Leu) | |
| 6 | g.136826355G>A | CA365855792 | PEX7 | c.225G>A (p.Trp75Ter) c.100G>A c.111G>A (p.Trp37Ter) c.230G>A (n.230G>A) c.105G>A (p.Trp35Ter) | |
| 6 | g.136826355G>C | CA365855793 | PEX7 | c.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 |
| 6 | g.136826355G>T | CA365855794 | PEX7 | c.225G>T (p.Trp75Cys) c.100G>T c.111G>T (p.Trp37Cys) c.230G>T (n.230G>T) c.105G>T (p.Trp35Cys) | |
| 6 | g.136826356A>C | CA365855797 | PEX7 | c.226A>C (p.Ser76Arg) c.101A>C c.112A>C (p.Ser38Arg) c.231A>C (n.231A>C) c.106A>C (p.Ser36Arg) | |
| 6 | g.136826356A>G | CA365855795 | PEX7 | c.226A>G (p.Ser76Gly) c.101A>G c.112A>G (p.Ser38Gly) c.231A>G (n.231A>G) c.106A>G (p.Ser36Gly) | |
| 6 | g.136826356A>T | CA365855796 | PEX7 | c.226A>T (p.Ser76Cys) c.101A>T c.112A>T (p.Ser38Cys) c.231A>T (n.231A>T) c.106A>T (p.Ser36Cys) | |
| 6 | g.136826357G>A | CA365855798 | PEX7 | c.227G>A (p.Ser76Asn) c.102G>A c.113G>A (p.Ser38Asn) c.232G>A (n.232G>A) c.107G>A (p.Ser36Asn) | |
| 6 | g.136826357G>C | CA365855799 | PEX7 | c.227G>C (p.Ser76Thr) c.102G>C c.113G>C (p.Ser38Thr) c.232G>C (n.232G>C) c.107G>C (p.Ser36Thr) | |
| 6 | g.136826357G>T | CA365855800 | PEX7 | c.227G>T (p.Ser76Ile) c.102G>T c.113G>T (p.Ser38Ile) c.232G>T (n.232G>T) c.107G>T (p.Ser36Ile) | |
| 6 | g.136826358T>A | CA365855801 | PEX7 | c.228T>A (p.Ser76Arg) c.103T>A c.114T>A (p.Ser38Arg) c.233T>A (n.233T>A) c.108T>A (p.Ser36Arg) | |
| 6 | g.136826358T>C | CA452376481 | PEX7 | c.228T>C (p.Ser76=) c.103T>C c.114T>C (p.Ser38=) c.233T>C (n.233T>C) c.108T>C (p.Ser36=) | |
| 6 | g.136826358T>G | CA365855802 | PEX7 | c.228T>G (p.Ser76Arg) c.103T>G c.114T>G (p.Ser38Arg) c.233T>G (n.233T>G) c.108T>G (p.Ser36Arg) | |
| 6 | g.136826359G>A | CA365855803 | PEX7 | c.229G>A (p.Glu77Lys) c.104G>A c.115G>A (p.Glu39Lys) c.234G>A (n.234G>A) c.109G>A (p.Glu37Lys) | |
| 6 | g.136826359G>C | CA365855805 | PEX7 | c.229G>C (p.Glu77Gln) c.104G>C c.115G>C (p.Glu39Gln) c.234G>C (n.234G>C) c.109G>C (p.Glu37Gln) | |
| 6 | g.136826359G>T | CA365855804 | PEX7 | c.229G>T (p.Glu77Ter) c.104G>T c.115G>T (p.Glu39Ter) c.234G>T (n.234G>T) c.109G>T (p.Glu37Ter) | |
| 6 | g.136826360A>C | CA365855806 | PEX7 | c.230A>C (p.Glu77Ala) c.105A>C c.116A>C (p.Glu39Ala) c.235A>C (n.235A>C) c.110A>C (p.Glu37Ala) | |
| 6 | g.136826360A>G | CA365855807 | PEX7 | c.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 |
| 6 | g.136826360A>T | CA4017530 | PEX7 | c.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 |
| 6 | g.136826361G>A | CA452376494 | PEX7 | c.231G>A (p.Glu77=) c.106G>A c.117G>A (p.Glu39=) c.236G>A (n.236G>A) c.111G>A (p.Glu37=) | |
| 6 | g.136826361G>C | CA365855808 | PEX7 | c.231G>C (p.Glu77Asp) c.106G>C c.117G>C (p.Glu39Asp) c.236G>C (n.236G>C) c.111G>C (p.Glu37Asp) | |
| 6 | g.136826361G>T | CA365855809 | PEX7 | c.231G>T (p.Glu77Asp) c.106G>T c.117G>T (p.Glu39Asp) c.236G>T (n.236G>T) c.111G>T (p.Glu37Asp) | |
| 6 | g.136826362A>C | CA365855810 | PEX7 | c.232A>C (p.Asn78His) c.107A>C c.118A>C (p.Asn40His) c.237A>C (n.237A>C) c.112A>C (p.Asn38His) | |
| 6 | g.136826362A>G | CA365855811 | PEX7 | c.232A>G (p.Asn78Asp) c.107A>G c.118A>G (p.Asn40Asp) c.237A>G (n.237A>G) c.112A>G (p.Asn38Asp) | |
| 6 | g.136826362A>T | CA365855812 | PEX7 | c.232A>T (p.Asn78Tyr) c.107A>T c.118A>T (p.Asn40Tyr) c.237A>T (n.237A>T) c.112A>T (p.Asn38Tyr) | gnomAD v4 |
| 6 | g.136826363del | CA915944386 | PEX7 | c.233del (p.Asn78ThrfsTer?) c.108del c.119del (p.Asn40ThrfsTer?) c.238del (n.238del) c.113del (p.Asn38ThrfsTer?) | ClinVar dbSNP |
| 6 | g.136826363A>C | CA365855813 | PEX7 | c.233A>C (p.Asn78Thr) c.108A>C c.119A>C (p.Asn40Thr) c.238A>C (n.238A>C) c.113A>C (p.Asn38Thr) | |
| 6 | g.136826363A>G | CA4017531 | PEX7 | c.233A>G (p.Asn78Ser) c.108A>G c.119A>G (p.Asn40Ser) c.238A>G (n.238A>G) c.113A>G (p.Asn38Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826363A>T | CA365855814 | PEX7 | c.233A>T (p.Asn78Ile) c.108A>T c.119A>T (p.Asn40Ile) c.238A>T (n.238A>T) c.113A>T (p.Asn38Ile) | |
| 6 | g.136826364del | CA2713378704 | PEX7 | c.234del (p.Asn78LysfsTer?) c.109del c.120del (p.Asn40LysfsTer?) c.239del (n.239del) c.114del (p.Asn38LysfsTer?) | dbSNP |
| 6 | g.136826364C>A | CA4017532 | PEX7 | c.234C>A (p.Asn78Lys) c.109C>A c.120C>A (p.Asn40Lys) c.239C>A (n.239C>A) c.114C>A (p.Asn38Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826364C>G | CA365855815 | PEX7 | c.234C>G (p.Asn78Lys) c.109C>G c.120C>G (p.Asn40Lys) c.239C>G (n.239C>G) c.114C>G (p.Asn38Lys) | |
| 6 | g.136826364C>T | CA452376518 | PEX7 | c.234C>T (p.Asn78=) c.109C>T c.120C>T (p.Asn40=) c.239C>T (n.239C>T) c.114C>T (p.Asn38=) | |
| 6 | g.136826365A>C | CA365855816 | PEX7 | c.235A>C (p.Asn79His) c.110A>C c.121A>C (p.Asn41His) c.240A>C (n.240A>C) c.115A>C (p.Asn39His) | |
| 6 | g.136826365A>G | CA365855818 | PEX7 | c.235A>G (p.Asn79Asp) c.110A>G c.121A>G (p.Asn41Asp) c.240A>G (n.240A>G) c.115A>G (p.Asn39Asp) | |
| 6 | g.136826365A>T | CA365855817 | PEX7 | c.235A>T (p.Asn79Tyr) c.110A>T c.121A>T (p.Asn41Tyr) c.240A>T (n.240A>T) c.115A>T (p.Asn39Tyr) | |
| 6 | g.136826366A>C | CA365855819 | PEX7 | c.236A>C (p.Asn79Thr) c.111A>C c.122A>C (p.Asn41Thr) c.241A>C (n.241A>C) c.116A>C (p.Asn39Thr) | |
| 6 | g.136826366A>G | CA365855821 | PEX7 | c.236A>G (p.Asn79Ser) c.111A>G c.122A>G (p.Asn41Ser) c.241A>G (n.241A>G) c.116A>G (p.Asn39Ser) | ClinVar dbSNP |
| 6 | g.136826366A>T | CA365855820 | PEX7 | c.236A>T (p.Asn79Ile) c.111A>T c.122A>T (p.Asn41Ile) c.241A>T (n.241A>T) c.116A>T (p.Asn39Ile) | |
| 6 | g.136826367C>A | CA365855822 | PEX7 | c.237C>A (p.Asn79Lys) c.112C>A c.123C>A (p.Asn41Lys) c.242C>A (n.242C>A) c.117C>A (p.Asn39Lys) | |
| 6 | g.136826367C>G | CA365855823 | PEX7 | c.237C>G (p.Asn79Lys) c.112C>G c.123C>G (p.Asn41Lys) c.242C>G (n.242C>G) c.117C>G (p.Asn39Lys) | |
| 6 | g.136826367C>T | CA4017533 | PEX7 | c.237C>T (p.Asn79=) c.112C>T c.123C>T (p.Asn41=) c.242C>T (n.242C>T) c.117C>T (p.Asn39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826368G>A | CA4017534 | PEX7 | c.238G>A (p.Glu80Lys) c.113G>A c.124G>A (p.Glu42Lys) c.243G>A (n.243G>A) c.118G>A (p.Glu40Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826368G>C | CA365855824 | PEX7 | c.238G>C (p.Glu80Gln) c.113G>C c.124G>C (p.Glu42Gln) c.243G>C (n.243G>C) c.118G>C (p.Glu40Gln) | |
| 6 | g.136826368G>T | CA365855825 | PEX7 | c.238G>T (p.Glu80Ter) c.113G>T c.124G>T (p.Glu42Ter) c.243G>T (n.243G>T) c.118G>T (p.Glu40Ter) | |
| 6 | g.136826369A>C | CA365855826 | PEX7 | c.239A>C (p.Glu80Ala) c.114A>C c.125A>C (p.Glu42Ala) c.244A>C (n.244A>C) c.119A>C (p.Glu40Ala) | |
| 6 | g.136826369A>G | CA365855827 | PEX7 | c.239A>G (p.Glu80Gly) c.114A>G c.125A>G (p.Glu42Gly) c.244A>G (n.244A>G) c.119A>G (p.Glu40Gly) | |
| 6 | g.136826369A>T | CA365855828 | PEX7 | c.239A>T (p.Glu80Val) c.114A>T c.125A>T (p.Glu42Val) c.244A>T (n.244A>T) c.119A>T (p.Glu40Val) | |
| 6 | g.136826370A>C | CA365855829 | PEX7 | c.240A>C (p.Glu80Asp) c.115A>C c.126A>C (p.Glu42Asp) c.245A>C (n.245A>C) c.120A>C (p.Glu40Asp) | |
| 6 | g.136826370A>G | CA4017535 | PEX7 | c.240A>G (p.Glu80=) c.115A>G c.126A>G (p.Glu42=) c.245A>G (n.245A>G) c.120A>G (p.Glu40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826370A>T | CA365855830 | PEX7 | c.240A>T (p.Glu80Asp) c.115A>T c.126A>T (p.Glu42Asp) c.245A>T (n.245A>T) c.120A>T (p.Glu40Asp) | |
| 6 | g.136826371C>A | CA365855831 | PEX7 | c.241C>A (p.His81Asn) c.116C>A c.127C>A (p.His43Asn) c.246C>A (n.246C>A) c.121C>A (p.His41Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826371C>G | CA148641170 | PEX7 | c.241C>G (p.His81Asp) c.116C>G c.127C>G (p.His43Asp) c.246C>G (n.246C>G) c.121C>G (p.His41Asp) | dbSNP |
| 6 | g.136826371C>T | CA365855832 | PEX7 | c.241C>T (p.His81Tyr) c.116C>T c.127C>T (p.His43Tyr) c.246C>T (n.246C>T) c.121C>T (p.His41Tyr) | dbSNP COSMIC COSMIC |
| 6 | g.136826372A>C | CA365855833 | PEX7 | c.242A>C (p.His81Pro) c.117A>C c.128A>C (p.His43Pro) c.247A>C (n.247A>C) c.122A>C (p.His41Pro) | |
| 6 | g.136826372A>G | CA148641171 | PEX7 | c.242A>G (p.His81Arg) c.117A>G c.128A>G (p.His43Arg) c.247A>G (n.247A>G) c.122A>G (p.His41Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826372A>T | CA365855834 | PEX7 | c.242A>T (p.His81Leu) c.117A>T c.128A>T (p.His43Leu) c.247A>T (n.247A>T) c.122A>T (p.His41Leu) | gnomAD v4 |
| 6 | g.136826373T>A | CA365855835 | PEX7 | c.243T>A (p.His81Gln) c.118T>A c.129T>A (p.His43Gln) c.248T>A (n.248T>A) c.123T>A (p.His41Gln) | |
| 6 | g.136826373T>C | CA4017536 | PEX7 | c.243T>C (p.His81=) c.118T>C c.129T>C (p.His43=) c.248T>C (n.248T>C) c.123T>C (p.His41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136826373T>G | CA365855836 | PEX7 | c.243T>G (p.His81Gln) c.118T>G c.129T>G (p.His43Gln) c.248T>G (n.248T>G) c.123T>G (p.His41Gln) | gnomAD v4 COSMIC |
| 6 | g.136826374G>A | CA4017537 | PEX7 | c.244G>A (p.Val82Ile) c.119G>A c.130G>A (p.Val44Ile) c.249G>A (n.249G>A) c.124G>A (p.Val42Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136826374G>C | CA365855837 | PEX7 | c.244G>C (p.Val82Leu) c.119G>C c.130G>C (p.Val44Leu) c.249G>C (n.249G>C) c.124G>C (p.Val42Leu) | |
| 6 | g.136826374G>T | CA365855838 | PEX7 | c.244G>T (p.Val82Phe) c.119G>T c.130G>T (p.Val44Phe) c.249G>T (n.249G>T) c.124G>T (p.Val42Phe) | |
| 6 | g.136826375T>A | CA365855839 | PEX7 | c.245T>A (p.Val82Asp) c.120T>A c.131T>A (p.Val44Asp) c.250T>A (n.250T>A) c.125T>A (p.Val42Asp) | dbSNP |
| 6 | g.136826375T>C | CA365855840 | PEX7 | c.245T>C (p.Val82Ala) c.120T>C c.131T>C (p.Val44Ala) c.250T>C (n.250T>C) c.125T>C (p.Val42Ala) | |
| 6 | g.136826375T>G | CA365855841 | PEX7 | c.245T>G (p.Val82Gly) c.120T>G c.131T>G (p.Val44Gly) c.250T>G (n.250T>G) c.125T>G (p.Val42Gly) | |
| 6 | g.136826376C>A | CA452376590 | PEX7 | c.246C>A (p.Val82=) c.121C>A c.132C>A (p.Val44=) c.251C>A (n.251C>A) c.126C>A (p.Val42=) | |
| 6 | g.136826376C>G | CA452376592 | PEX7 | c.246C>G (p.Val82=) c.121C>G c.132C>G (p.Val44=) c.251C>G (n.251C>G) c.126C>G (p.Val42=) | |
| 6 | g.136826376C>T | CA452376588 | PEX7 | c.246C>T (p.Val82=) c.121C>T c.132C>T (p.Val44=) c.251C>T (n.251C>T) c.126C>T (p.Val42=) | ClinVar |
| 6 | g.136826377C>A | CA365855844 | PEX7 | c.247C>A (p.Leu83Ile) c.122C>A c.133C>A (p.Leu45Ile) c.252C>A (n.252C>A) c.127C>A (p.Leu43Ile) | |
| 6 | g.136826377C>G | CA365855843 | PEX7 | c.247C>G (p.Leu83Val) c.122C>G c.133C>G (p.Leu45Val) c.252C>G (n.252C>G) c.127C>G (p.Leu43Val) | |
| 6 | g.136826377C>T | CA365855842 | PEX7 | c.247C>T (p.Leu83Phe) c.122C>T c.133C>T (p.Leu45Phe) c.252C>T (n.252C>T) c.127C>T (p.Leu43Phe) | |
| 6 | g.136826378T>A | CA365855845 | PEX7 | c.248T>A (p.Leu83His) c.123T>A c.134T>A (p.Leu45His) c.253T>A (n.253T>A) c.128T>A (p.Leu43His) | |
| 6 | g.136826378T>C | CA365855846 | PEX7 | c.248T>C (p.Leu83Pro) c.123T>C c.134T>C (p.Leu45Pro) c.253T>C (n.253T>C) c.128T>C (p.Leu43Pro) | |
| 6 | g.136826378T>G | CA365855847 | PEX7 | c.248T>G (p.Leu83Arg) c.123T>G c.134T>G (p.Leu45Arg) c.253T>G (n.253T>G) c.128T>G (p.Leu43Arg) | |
| 6 | g.136826379C>A | CA452376622 | PEX7 | c.249C>A (p.Leu83=) c.124C>A c.135C>A (p.Leu45=) c.254C>A (n.254C>A) c.129C>A (p.Leu43=) | |
| 6 | g.136826379C>G | CA452376618 | PEX7 | c.249C>G (p.Leu83=) c.124C>G c.135C>G (p.Leu45=) c.254C>G (n.254C>G) c.129C>G (p.Leu43=) | |
| 6 | g.136826379C>T | CA452376616 | PEX7 | c.249C>T (p.Leu83=) c.124C>T c.135C>T (p.Leu45=) c.254C>T (n.254C>T) c.129C>T (p.Leu43=) | gnomAD v4 |
| 6 | g.136826380A>C | CA365855848 | PEX7 | c.250A>C (p.Ile84Leu) c.125A>C c.136A>C (p.Ile46Leu) c.255A>C (n.255A>C) c.130A>C (p.Ile44Leu) | |
| 6 | g.136826380A>G | CA365855849 | PEX7 | c.250A>G (p.Ile84Val) c.125A>G c.136A>G (p.Ile46Val) c.255A>G (n.255A>G) c.130A>G (p.Ile44Val) | dbSNP gnomAD v4 |
| 6 | g.136826380A>T | CA365855850 | PEX7 | c.250A>T (p.Ile84Phe) c.125A>T c.136A>T (p.Ile46Phe) c.255A>T (n.255A>T) c.130A>T (p.Ile44Phe) | |
| 6 | g.136826380dup | CA2580075090 | PEX7 | c.250dup (p.Ile84AsnfsTer4) c.125dup c.136dup (p.Ile46AsnfsTer4) c.255dup (n.255dup) c.130dup (p.Ile44AsnfsTer4) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136826381T>A | CA365855851 | PEX7 | c.251T>A (p.Ile84Asn) c.126T>A c.137T>A (p.Ile46Asn) c.256T>A (n.256T>A) c.131T>A (p.Ile44Asn) | |
| 6 | g.136826381T>C | CA365855852 | PEX7 | c.251T>C (p.Ile84Thr) c.126T>C c.137T>C (p.Ile46Thr) c.256T>C (n.256T>C) c.131T>C (p.Ile44Thr) | |
| 6 | g.136826381T>G | CA365855853 | PEX7 | c.251T>G (p.Ile84Ser) c.126T>G c.137T>G (p.Ile46Ser) c.256T>G (n.256T>G) c.131T>G (p.Ile44Ser) | |
| 6 | g.136826382C>A | CA452376629 | PEX7 | c.252C>A (p.Ile84=) c.127C>A c.138C>A (p.Ile46=) c.257C>A (n.257C>A) c.132C>A (p.Ile44=) | |
| 6 | g.136826382C>G | CA365855854 | PEX7 | c.252C>G (p.Ile84Met) c.127C>G c.138C>G (p.Ile46Met) c.257C>G (n.257C>G) c.132C>G (p.Ile44Met) | |
| 6 | g.136826382C>T | CA4017538 | PEX7 | c.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 |
| 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) | |
| 6 | g.136826399G>T | CA365855893 | PEX7 | c.269G>T (p.Gly90Val) c.144G>T c.155G>T (p.Gly52Val) c.274G>T (n.274G>T) c.149G>T (p.Gly50Val) | |
| 6 | g.136826400C>A | CA452376704 | PEX7 | c.270C>A (p.Gly90=) c.145C>A c.156C>A (p.Gly52=) c.275C>A (n.275C>A) c.150C>A (p.Gly50=) | |
| 6 | g.136826400C>G | CA452376709 | PEX7 | c.270C>G (p.Gly90=) c.145C>G c.156C>G (p.Gly52=) c.275C>G (n.275C>G) c.150C>G (p.Gly50=) | |
| 6 | g.136826400C>T | CA452376712 | PEX7 | c.270C>T (p.Gly90=) c.145C>T c.156C>T (p.Gly52=) c.275C>T (n.275C>T) c.150C>T (p.Gly50=) | |
| 6 | g.136826401T>A | CA365855894 | PEX7 | c.271T>A (p.Ser91Thr) c.146T>A c.157T>A (p.Ser53Thr) c.276T>A (n.276T>A) c.151T>A (p.Ser51Thr) | |
| 6 | g.136826401T>C | CA365855895 | PEX7 | c.271T>C (p.Ser91Pro) c.146T>C c.157T>C (p.Ser53Pro) c.276T>C (n.276T>C) c.151T>C (p.Ser51Pro) | |
| 6 | g.136826401T>G | CA365855896 | PEX7 | c.271T>G (p.Ser91Ala) c.146T>G c.157T>G (p.Ser53Ala) c.276T>G (n.276T>G) c.151T>G (p.Ser51Ala) | |
| 6 | g.136826402C>A | CA365855897 | PEX7 | c.272C>A (p.Ser91Ter) c.147C>A c.158C>A (p.Ser53Ter) c.277C>A (n.277C>A) c.152C>A (p.Ser51Ter) | |
| 6 | g.136826402C>G | CA365855898 | PEX7 | c.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 |
| 6 | g.136826402C>T | CA4017543 | PEX7 | c.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 |
| 6 | g.136826403G>A | CA452376725 | PEX7 | c.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 |
| 6 | g.136826403G>C | CA4017544 | PEX7 | c.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 |
| 6 | g.136826403G>T | CA452376728 | PEX7 | c.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 |
| 6 | g.136826404C>A | CA365855899 | PEX7 | c.274C>A (p.Leu92Met) c.149C>A c.160C>A (p.Leu54Met) c.279C>A (n.279C>A) c.154C>A (p.Leu52Met) | |
| 6 | g.136826404C>G | CA365855900 | PEX7 | c.274C>G (p.Leu92Val) c.149C>G c.160C>G (p.Leu54Val) c.279C>G (n.279C>G) c.154C>G (p.Leu52Val) | |
| 6 | g.136826404C>T | CA452376730 | PEX7 | c.274C>T (p.Leu92=) c.149C>T c.160C>T (p.Leu54=) c.279C>T (n.279C>T) c.154C>T (p.Leu52=) | |
| 6 | g.136826405T>A | CA365855901 | PEX7 | c.275T>A (p.Leu92Gln) c.150T>A c.161T>A (p.Leu54Gln) c.280T>A (n.280T>A) c.155T>A (p.Leu52Gln) | |
| 6 | g.136826405T>C | CA365855902 | PEX7 | c.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 |
| 6 | g.136826405T>G | CA365855903 | PEX7 | c.275T>G (p.Leu92Arg) c.150T>G c.161T>G (p.Leu54Arg) c.280T>G (n.280T>G) c.155T>G (p.Leu52Arg) | |
| 6 | g.136826406G>A | CA452376743 | PEX7 | c.276G>A (p.Leu92=) c.151G>A c.162G>A (p.Leu54=) c.281G>A (n.281G>A) c.156G>A (p.Leu52=) | |
| 6 | g.136826406G>C | CA452376745 | PEX7 | c.276G>C (p.Leu92=) c.151G>C c.162G>C (p.Leu54=) c.281G>C (n.281G>C) c.156G>C (p.Leu52=) | |
| 6 | g.136826406G>T | CA452376747 | PEX7 | c.276G>T (p.Leu92=) c.151G>T c.162G>T (p.Leu54=) c.281G>T (n.281G>T) c.156G>T (p.Leu52=) | |
| 6 | g.136826407C>A | CA365855904 | PEX7 | c.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 |
| 6 | g.136826407C>G | CA365855905 | PEX7 | c.277C>G (p.Gln93Glu) c.152C>G c.163C>G (p.Gln55Glu) c.282C>G (n.282C>G) c.157C>G (p.Gln53Glu) | |
| 6 | g.136826407C>T | CA4017545 | PEX7 | c.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 |
| 6 | g.136826408A>C | CA365855906 | PEX7 | c.278A>C (p.Gln93Pro) c.153A>C c.164A>C (p.Gln55Pro) c.283A>C (n.283A>C) c.158A>C (p.Gln53Pro) | |
| 6 | g.136826408A>G | CA365855907 | PEX7 | c.278A>G (p.Gln93Arg) c.153A>G c.164A>G (p.Gln55Arg) c.283A>G (n.283A>G) c.158A>G (p.Gln53Arg) | ClinVar |
| 6 | g.136826408A>T | CA365855908 | PEX7 | c.278A>T (p.Gln93Leu) c.153A>T c.164A>T (p.Gln55Leu) c.283A>T (n.283A>T) c.158A>T (p.Gln53Leu) | |
| 6 | g.136826409G>A | CA452376758 | PEX7 | c.279G>A (p.Gln93=) c.154G>A c.165G>A (p.Gln55=) c.284G>A (n.284G>A) c.159G>A (p.Gln53=) | ClinVar |
| 6 | g.136826409G>C | CA365855910 | PEX7 | c.279G>C (p.Gln93His) c.154G>C c.165G>C (p.Gln55His) c.284G>C (n.284G>C) c.159G>C (p.Gln53His) | |
| 6 | g.136826409G>T | CA365855909 | PEX7 | c.279G>T (p.Gln93His) c.154G>T c.165G>T (p.Gln55His) c.284G>T (n.284G>T) c.159G>T (p.Gln53His) | |
| 6 | g.136826410C>A | CA365855911 | PEX7 | c.280C>A (p.Leu94Ile) c.155C>A c.166C>A (p.Leu56Ile) c.285C>A (n.285C>A) c.160C>A (p.Leu54Ile) | |
| 6 | g.136826410C>G | CA365855912 | PEX7 | c.280C>G (p.Leu94Val) c.155C>G c.166C>G (p.Leu56Val) c.285C>G (n.285C>G) c.160C>G (p.Leu54Val) | |
| 6 | g.136826410C>T | CA365855913 | PEX7 | c.280C>T (p.Leu94Phe) c.155C>T c.166C>T (p.Leu56Phe) c.285C>T (n.285C>T) c.160C>T (p.Leu54Phe) | |
| 6 | g.136826411T>A | CA365855914 | PEX7 | c.281T>A (p.Leu94His) c.156T>A c.167T>A (p.Leu56His) c.286T>A (n.286T>A) c.161T>A (p.Leu54His) | |
| 6 | g.136826411T>C | CA365855915 | PEX7 | c.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 |
| 6 | g.136826411T>G | CA365855916 | PEX7 | c.281T>G (p.Leu94Arg) c.156T>G c.167T>G (p.Leu56Arg) c.286T>G (n.286T>G) c.161T>G (p.Leu54Arg) | |
| 6 | g.136826412C>A | CA452376777 | PEX7 | c.282C>A (p.Leu94=) c.157C>A c.168C>A (p.Leu56=) c.287C>A (n.287C>A) c.162C>A (p.Leu54=) | |
| 6 | g.136826412C>G | CA452376784 | PEX7 | c.282C>G (p.Leu94=) c.157C>G c.168C>G (p.Leu56=) c.287C>G (n.287C>G) c.162C>G (p.Leu54=) | |
| 6 | g.136826412C>T | CA452376787 | PEX7 | c.282C>T (p.Leu94=) c.157C>T c.168C>T (p.Leu56=) c.287C>T (n.287C>T) c.162C>T (p.Leu54=) | |
| 6 | g.136826413_136826418del | CA2680488171 | PEX7 | c.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 |
| 6 | g.136826413T>A | CA365855917 | PEX7 | c.283T>A (p.Trp95Arg) c.158T>A c.169T>A (p.Trp57Arg) c.288T>A (n.288T>A) c.163T>A (p.Trp55Arg) | |
| 6 | g.136826413T>C | CA365855918 | PEX7 | c.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 |
| 6 | g.136826413T>G | CA365855919 | PEX7 | c.283T>G (p.Trp95Gly) c.158T>G c.169T>G (p.Trp57Gly) c.288T>G (n.288T>G) c.163T>G (p.Trp55Gly) |