| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136826308dup | CA2680489140 | PEX7 | c.189-11dup (n.189-11dup) c.59-6dup c.75-11dup (n.75-11dup) c.189-6dup (n.189-6dup) c.69-11dup (n.69-11dup) | gnomAD v4 |
| 6 | g.136826308del | CA2578751735 | PEX7 | c.189-11del (n.189-11del) c.59-6del c.75-11del (n.75-11del) c.189-6del (n.189-6del) c.69-11del (n.69-11del) | |
| 6 | g.136826307T>C | CA2680489142 | PEX7 | c.189-12T>C (n.189-12T>C) c.59-7T>C c.75-12T>C (n.75-12T>C) c.189-7T>C (n.189-7T>C) c.69-12T>C (n.69-12T>C) | gnomAD v4 |
| 6 | g.136826309C>A | CA2561301572 | PEX7 | c.189-10C>A (n.189-10C>A) c.59-5C>A c.75-10C>A (n.75-10C>A) c.189-5C>A (n.189-5C>A) c.69-10C>A (n.69-10C>A) | |
| 6 | g.136826309C>T | CA2739266174 | PEX7 | c.189-10C>T (n.189-10C>T) c.59-5C>T c.75-10C>T (n.75-10C>T) c.189-5C>T (n.189-5C>T) c.69-10C>T (n.69-10C>T) | |
| 6 | g.136826310C>T | CA570744349 | PEX7 | c.189-9C>T (n.189-9C>T) c.59-4C>T c.75-9C>T (n.75-9C>T) c.189-4C>T (n.189-4C>T) c.69-9C>T (n.69-9C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136826311T>A | CA2573140627 | PEX7 | c.189-8T>A (n.189-8T>A) c.59-3T>A c.75-8T>A (n.75-8T>A) c.189-3T>A (n.189-3T>A) c.69-8T>A (n.69-8T>A) | ClinVar dbSNP |
| 6 | g.136826312A>G | CA452375568 | PEX7 | c.189-7A>G (n.189-7A>G) c.59-2A>G c.75-7A>G (n.75-7A>G) c.189-2A>G (n.189-2A>G) c.69-7A>G (n.69-7A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 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 |