| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136898079dup | CA2522826551 | PEX7 | c.804-63dup (n.804-63dup) c.*69-63dup (n.*69-63dup) c.492-63dup c.690-63dup (n.690-63dup) c.684-63dup (n.684-63dup) c.510-63dup (n.510-63dup) c.527-63dup (n.527-63dup) | gnomAD v4 |
| 6 | g.136898079del | CA2604515217 | PEX7 | c.804-63del (n.804-63del) c.*69-63del (n.*69-63del) c.492-63del c.690-63del (n.690-63del) c.684-63del (n.684-63del) c.510-63del (n.510-63del) c.527-63del (n.527-63del) | gnomAD v3 gnomAD v4 |
| 6 | g.136898079T>G | CA2680490167 | PEX7 | c.804-63T>G (n.804-63T>G) c.*69-63T>G (n.*69-63T>G) c.492-63T>G c.690-63T>G (n.690-63T>G) c.684-63T>G (n.684-63T>G) c.510-63T>G (n.510-63T>G) c.527-63T>G (n.527-63T>G) | gnomAD v4 |
| 6 | g.136898080C>A | CA2680490169 | PEX7 | c.804-62C>A (n.804-62C>A) c.*69-62C>A (n.*69-62C>A) c.492-62C>A c.690-62C>A (n.690-62C>A) c.684-62C>A (n.684-62C>A) c.510-62C>A (n.510-62C>A) c.527-62C>A (n.527-62C>A) | dbSNP gnomAD v4 |
| 6 | g.136898081T>C | CA2578751924 | PEX7 | c.804-61T>C (n.804-61T>C) c.*69-61T>C (n.*69-61T>C) c.492-61T>C c.690-61T>C (n.690-61T>C) c.684-61T>C (n.684-61T>C) c.510-61T>C (n.510-61T>C) c.527-61T>C (n.527-61T>C) | gnomAD v4 |
| 6 | g.136898083A>T | CA2680490172 | PEX7 | c.804-59A>T (n.804-59A>T) c.*69-59A>T (n.*69-59A>T) c.492-59A>T c.690-59A>T (n.690-59A>T) c.684-59A>T (n.684-59A>T) c.510-59A>T (n.510-59A>T) c.527-59A>T (n.527-59A>T) | gnomAD v4 |
| 6 | g.136898084A>G | CA2578751925 | PEX7 | c.804-58A>G (n.804-58A>G) c.*69-58A>G (n.*69-58A>G) c.492-58A>G c.690-58A>G (n.690-58A>G) c.684-58A>G (n.684-58A>G) c.510-58A>G (n.510-58A>G) c.527-58A>G (n.527-58A>G) | |
| 6 | g.136898085T>C | CA2713189776 | PEX7 | c.804-57T>C (n.804-57T>C) c.*69-57T>C (n.*69-57T>C) c.492-57T>C c.690-57T>C (n.690-57T>C) c.684-57T>C (n.684-57T>C) c.510-57T>C (n.510-57T>C) c.527-57T>C (n.527-57T>C) | dbSNP |
| 6 | g.136898085T>G | CA2578751926 | PEX7 | c.804-57T>G (n.804-57T>G) c.*69-57T>G (n.*69-57T>G) c.492-57T>G c.690-57T>G (n.690-57T>G) c.684-57T>G (n.684-57T>G) c.510-57T>G (n.510-57T>G) c.527-57T>G (n.527-57T>G) | |
| 6 | g.136898086A>C | CA2578751927 | PEX7 | c.804-56A>C (n.804-56A>C) c.*69-56A>C (n.*69-56A>C) c.492-56A>C c.690-56A>C (n.690-56A>C) c.684-56A>C (n.684-56A>C) c.510-56A>C (n.510-56A>C) c.527-56A>C (n.527-56A>C) | dbSNP gnomAD v4 |
| 6 | g.136898086A>G | CA915379326 | PEX7 | c.804-56A>G (n.804-56A>G) c.*69-56A>G (n.*69-56A>G) c.492-56A>G c.690-56A>G (n.690-56A>G) c.684-56A>G (n.684-56A>G) c.510-56A>G (n.510-56A>G) c.527-56A>G (n.527-56A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898086dup | CA2680490173 | PEX7 | c.804-56dup (n.804-56dup) c.*69-56dup (n.*69-56dup) c.492-56dup c.690-56dup (n.690-56dup) c.684-56dup (n.684-56dup) c.510-56dup (n.510-56dup) c.527-56dup (n.527-56dup) | gnomAD v4 |
| 6 | g.136898087T>G | CA819509351 | PEX7 | c.804-55T>G (n.804-55T>G) c.*69-55T>G (n.*69-55T>G) c.492-55T>G c.690-55T>G (n.690-55T>G) c.684-55T>G (n.684-55T>G) c.510-55T>G (n.510-55T>G) c.527-55T>G (n.527-55T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898090G>A | CA2773216298 | PEX7 | c.804-52G>A (n.804-52G>A) c.*69-52G>A (n.*69-52G>A) c.492-52G>A c.690-52G>A (n.690-52G>A) c.684-52G>A (n.684-52G>A) c.510-52G>A (n.510-52G>A) c.527-52G>A (n.527-52G>A) | |
| 6 | g.136898090G>C | CA2680490176 | PEX7 | c.804-52G>C (n.804-52G>C) c.*69-52G>C (n.*69-52G>C) c.492-52G>C c.690-52G>C (n.690-52G>C) c.684-52G>C (n.684-52G>C) c.510-52G>C (n.510-52G>C) c.527-52G>C (n.527-52G>C) | gnomAD v4 |
| 6 | g.136898091T>C | CA4017770 | PEX7 | c.804-51T>C (n.804-51T>C) c.*69-51T>C (n.*69-51T>C) c.492-51T>C c.690-51T>C (n.690-51T>C) c.684-51T>C (n.684-51T>C) c.510-51T>C (n.510-51T>C) c.527-51T>C (n.527-51T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898096del | CA148218657 | PEX7 | c.804-46del (n.804-46del) c.*69-46del (n.*69-46del) c.492-46del c.690-46del (n.690-46del) c.684-46del (n.684-46del) c.510-46del (n.510-46del) c.527-46del (n.527-46del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898092T>A | CA1094876378 | PEX7 | c.804-50T>A (n.804-50T>A) c.*69-50T>A (n.*69-50T>A) c.492-50T>A c.690-50T>A (n.690-50T>A) c.684-50T>A (n.684-50T>A) c.510-50T>A (n.510-50T>A) c.527-50T>A (n.527-50T>A) | dbSNP |
| 6 | g.136898092T>C | CA2680490180 | PEX7 | c.804-50T>C (n.804-50T>C) c.*69-50T>C (n.*69-50T>C) c.492-50T>C c.690-50T>C (n.690-50T>C) c.684-50T>C (n.684-50T>C) c.510-50T>C (n.510-50T>C) c.527-50T>C (n.527-50T>C) | gnomAD v4 |
| 6 | g.136898092T>G | CA2578751928 | PEX7 | c.804-50T>G (n.804-50T>G) c.*69-50T>G (n.*69-50T>G) c.492-50T>G c.690-50T>G (n.690-50T>G) c.684-50T>G (n.684-50T>G) c.510-50T>G (n.510-50T>G) c.527-50T>G (n.527-50T>G) | |
| 6 | g.136898094T>C | CA4017771 | PEX7 | c.804-48T>C (n.804-48T>C) c.*69-48T>C (n.*69-48T>C) c.492-48T>C c.690-48T>C (n.690-48T>C) c.684-48T>C (n.684-48T>C) c.510-48T>C (n.510-48T>C) c.527-48T>C (n.527-48T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898095T>G | CA2680490184 | PEX7 | c.804-47T>G (n.804-47T>G) c.*69-47T>G (n.*69-47T>G) c.492-47T>G c.690-47T>G (n.690-47T>G) c.684-47T>G (n.684-47T>G) c.510-47T>G (n.510-47T>G) c.527-47T>G (n.527-47T>G) | gnomAD v4 |
| 6 | g.136898096T>G | CA4017772 | PEX7 | c.804-46T>G (n.804-46T>G) c.*69-46T>G (n.*69-46T>G) c.492-46T>G c.690-46T>G (n.690-46T>G) c.684-46T>G (n.684-46T>G) c.510-46T>G (n.510-46T>G) c.527-46T>G (n.527-46T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898097G>T | CA2578751929 | PEX7 | c.804-45G>T (n.804-45G>T) c.*69-45G>T (n.*69-45G>T) c.492-45G>T c.690-45G>T (n.690-45G>T) c.684-45G>T (n.684-45G>T) c.510-45G>T (n.510-45G>T) c.527-45G>T (n.527-45G>T) | gnomAD v4 |
| 6 | g.136898098G>A | CA819509354 | PEX7 | c.804-44G>A (n.804-44G>A) c.*69-44G>A (n.*69-44G>A) c.492-44G>A c.690-44G>A (n.690-44G>A) c.684-44G>A (n.684-44G>A) c.510-44G>A (n.510-44G>A) c.527-44G>A (n.527-44G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898098G>T | CA819509358 | PEX7 | c.804-44G>T (n.804-44G>T) c.*69-44G>T (n.*69-44G>T) c.492-44G>T c.690-44G>T (n.690-44G>T) c.684-44G>T (n.684-44G>T) c.510-44G>T (n.510-44G>T) c.527-44G>T (n.527-44G>T) | dbSNP gnomAD v4 |
| 6 | g.136898100A>T | CA2578751930 | PEX7 | c.804-42A>T (n.804-42A>T) c.*69-42A>T (n.*69-42A>T) c.492-42A>T c.690-42A>T (n.690-42A>T) c.684-42A>T (n.684-42A>T) c.510-42A>T (n.510-42A>T) c.527-42A>T (n.527-42A>T) | |
| 6 | g.136898101G>C | CA2578751931 | PEX7 | c.804-41G>C (n.804-41G>C) c.*69-41G>C (n.*69-41G>C) c.492-41G>C c.690-41G>C (n.690-41G>C) c.684-41G>C (n.684-41G>C) c.510-41G>C (n.510-41G>C) c.527-41G>C (n.527-41G>C) | |
| 6 | g.136898101G>T | CA2713382884 | PEX7 | c.804-41G>T (n.804-41G>T) c.*69-41G>T (n.*69-41G>T) c.492-41G>T c.690-41G>T (n.690-41G>T) c.684-41G>T (n.684-41G>T) c.510-41G>T (n.510-41G>T) c.527-41G>T (n.527-41G>T) | dbSNP |
| 6 | g.136898102T>C | CA2773216299 | PEX7 | c.804-40T>C (n.804-40T>C) c.*69-40T>C (n.*69-40T>C) c.492-40T>C c.690-40T>C (n.690-40T>C) c.684-40T>C (n.684-40T>C) c.510-40T>C (n.510-40T>C) c.527-40T>C (n.527-40T>C) | |
| 6 | g.136898105del | CA1094876413 | PEX7 | c.804-37del (n.804-37del) c.*69-37del (n.*69-37del) c.492-37del c.690-37del (n.690-37del) c.684-37del (n.684-37del) c.510-37del (n.510-37del) c.527-37del (n.527-37del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898106A>C | CA2680490189 | PEX7 | c.804-36A>C (n.804-36A>C) c.*69-36A>C (n.*69-36A>C) c.492-36A>C c.690-36A>C (n.690-36A>C) c.684-36A>C (n.684-36A>C) c.510-36A>C (n.510-36A>C) c.527-36A>C (n.527-36A>C) | gnomAD v4 |
| 6 | g.136898106A>G | CA2578751932 | PEX7 | c.804-36A>G (n.804-36A>G) c.*69-36A>G (n.*69-36A>G) c.492-36A>G c.690-36A>G (n.690-36A>G) c.684-36A>G (n.684-36A>G) c.510-36A>G (n.510-36A>G) c.527-36A>G (n.527-36A>G) | |
| 6 | g.136898107G>A | CA4017773 | PEX7 | c.804-35G>A (n.804-35G>A) c.*69-35G>A (n.*69-35G>A) c.492-35G>A c.690-35G>A (n.690-35G>A) c.684-35G>A (n.684-35G>A) c.510-35G>A (n.510-35G>A) c.527-35G>A (n.527-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898108C>A | CA2680490190 | PEX7 | c.804-34C>A (n.804-34C>A) c.*69-34C>A (n.*69-34C>A) c.492-34C>A c.690-34C>A (n.690-34C>A) c.684-34C>A (n.684-34C>A) c.510-34C>A (n.510-34C>A) c.527-34C>A (n.527-34C>A) | gnomAD v4 |
| 6 | g.136898108C>T | CA2680490191 | PEX7 | c.804-34C>T (n.804-34C>T) c.*69-34C>T (n.*69-34C>T) c.492-34C>T c.690-34C>T (n.690-34C>T) c.684-34C>T (n.684-34C>T) c.510-34C>T (n.510-34C>T) c.527-34C>T (n.527-34C>T) | gnomAD v4 |
| 6 | g.136898109A>C | CA2527251542 | PEX7 | c.804-33A>C (n.804-33A>C) c.*69-33A>C (n.*69-33A>C) c.492-33A>C c.690-33A>C (n.690-33A>C) c.684-33A>C (n.684-33A>C) c.510-33A>C (n.510-33A>C) c.527-33A>C (n.527-33A>C) | dbSNP |
| 6 | g.136898109A>G | CA2680490192 | PEX7 | c.804-33A>G (n.804-33A>G) c.*69-33A>G (n.*69-33A>G) c.492-33A>G c.690-33A>G (n.690-33A>G) c.684-33A>G (n.684-33A>G) c.510-33A>G (n.510-33A>G) c.527-33A>G (n.527-33A>G) | gnomAD v4 |
| 6 | g.136898112T>C | CA570576431 | PEX7 | c.804-30T>C (n.804-30T>C) c.*69-30T>C (n.*69-30T>C) c.492-30T>C c.690-30T>C (n.690-30T>C) c.684-30T>C (n.684-30T>C) c.510-30T>C (n.510-30T>C) c.527-30T>C (n.527-30T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898112T>G | CA148218683 | PEX7 | c.804-30T>G (n.804-30T>G) c.*69-30T>G (n.*69-30T>G) c.492-30T>G c.690-30T>G (n.690-30T>G) c.684-30T>G (n.684-30T>G) c.510-30T>G (n.510-30T>G) c.527-30T>G (n.527-30T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898113A>C | CA2713189781 | PEX7 | c.804-29A>C (n.804-29A>C) c.*69-29A>C (n.*69-29A>C) c.492-29A>C c.690-29A>C (n.690-29A>C) c.684-29A>C (n.684-29A>C) c.510-29A>C (n.510-29A>C) c.527-29A>C (n.527-29A>C) | dbSNP |
| 6 | g.136898113A>T | CA2578751933 | PEX7 | c.804-29A>T (n.804-29A>T) c.*69-29A>T (n.*69-29A>T) c.492-29A>T c.690-29A>T (n.690-29A>T) c.684-29A>T (n.684-29A>T) c.510-29A>T (n.510-29A>T) c.527-29A>T (n.527-29A>T) | |
| 6 | g.136898114A>C | CA2680490195 | PEX7 | c.804-28A>C (n.804-28A>C) c.*69-28A>C (n.*69-28A>C) c.492-28A>C c.690-28A>C (n.690-28A>C) c.684-28A>C (n.684-28A>C) c.510-28A>C (n.510-28A>C) c.527-28A>C (n.527-28A>C) | gnomAD v4 |
| 6 | g.136898114A>G | CA2680490196 | PEX7 | c.804-28A>G (n.804-28A>G) c.*69-28A>G (n.*69-28A>G) c.492-28A>G c.690-28A>G (n.690-28A>G) c.684-28A>G (n.684-28A>G) c.510-28A>G (n.510-28A>G) c.527-28A>G (n.527-28A>G) | gnomAD v4 |
| 6 | g.136898115A>T | CA4017774 | PEX7 | c.804-27A>T (n.804-27A>T) c.*69-27A>T (n.*69-27A>T) c.492-27A>T c.690-27A>T (n.690-27A>T) c.684-27A>T (n.684-27A>T) c.510-27A>T (n.510-27A>T) c.527-27A>T (n.527-27A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898118A>G | CA148218696 | PEX7 | c.804-24A>G (n.804-24A>G) c.*69-24A>G (n.*69-24A>G) c.492-24A>G c.690-24A>G (n.690-24A>G) c.684-24A>G (n.684-24A>G) c.510-24A>G (n.510-24A>G) c.527-24A>G (n.527-24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898120T>C | CA2522066360 | PEX7 | c.804-22T>C (n.804-22T>C) c.*69-22T>C (n.*69-22T>C) c.492-22T>C c.690-22T>C (n.690-22T>C) c.684-22T>C (n.684-22T>C) c.510-22T>C (n.510-22T>C) c.527-22T>C (n.527-22T>C) | gnomAD v4 |
| 6 | g.136898120T>G | CA2578751934 | PEX7 | c.804-22T>G (n.804-22T>G) c.*69-22T>G (n.*69-22T>G) c.492-22T>G c.690-22T>G (n.690-22T>G) c.684-22T>G (n.684-22T>G) c.510-22T>G (n.510-22T>G) c.527-22T>G (n.527-22T>G) | |
| 6 | g.136898121C>A | CA2680490201 | PEX7 | c.804-21C>A (n.804-21C>A) c.*69-21C>A (n.*69-21C>A) c.492-21C>A c.690-21C>A (n.690-21C>A) c.684-21C>A (n.684-21C>A) c.510-21C>A (n.510-21C>A) c.527-21C>A (n.527-21C>A) | gnomAD v4 |
| 6 | g.136898122C>A | CA2680490202 | PEX7 | c.804-20C>A (n.804-20C>A) c.*69-20C>A (n.*69-20C>A) c.492-20C>A c.690-20C>A (n.690-20C>A) c.684-20C>A (n.684-20C>A) c.510-20C>A (n.510-20C>A) c.527-20C>A (n.527-20C>A) | gnomAD v4 |
| 6 | g.136898123C>A | CA2680490203 | PEX7 | c.804-19C>A (n.804-19C>A) c.*69-19C>A (n.*69-19C>A) c.492-19C>A c.690-19C>A (n.690-19C>A) c.684-19C>A (n.684-19C>A) c.510-19C>A (n.510-19C>A) c.527-19C>A (n.527-19C>A) | gnomAD v4 |
| 6 | g.136898123C>T | CA4017775 | PEX7 | c.804-19C>T (n.804-19C>T) c.*69-19C>T (n.*69-19C>T) c.492-19C>T c.690-19C>T (n.690-19C>T) c.684-19C>T (n.684-19C>T) c.510-19C>T (n.510-19C>T) c.527-19C>T (n.527-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898124T>A | CA819509377 | PEX7 | c.804-18T>A (n.804-18T>A) c.*69-18T>A (n.*69-18T>A) c.492-18T>A c.690-18T>A (n.690-18T>A) c.684-18T>A (n.684-18T>A) c.510-18T>A (n.510-18T>A) c.527-18T>A (n.527-18T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898124T>C | CA2578751936 | PEX7 | c.804-18T>C (n.804-18T>C) c.*69-18T>C (n.*69-18T>C) c.492-18T>C c.690-18T>C (n.690-18T>C) c.684-18T>C (n.684-18T>C) c.510-18T>C (n.510-18T>C) c.527-18T>C (n.527-18T>C) | gnomAD v4 |
| 6 | g.136898127del | CA2578751935 | PEX7 | c.804-15del (n.804-15del) c.*69-15del (n.*69-15del) c.492-15del c.690-15del (n.690-15del) c.684-15del (n.684-15del) c.510-15del (n.510-15del) c.527-15del (n.527-15del) | gnomAD v4 |
| 6 | g.136898125T>C | CA2680490206 | PEX7 | c.804-17T>C (n.804-17T>C) c.*69-17T>C (n.*69-17T>C) c.492-17T>C c.690-17T>C (n.690-17T>C) c.684-17T>C (n.684-17T>C) c.510-17T>C (n.510-17T>C) c.527-17T>C (n.527-17T>C) | gnomAD v4 |
| 6 | g.136898126T>G | CA651172443 | PEX7 | c.804-16T>G (n.804-16T>G) c.*69-16T>G (n.*69-16T>G) c.492-16T>G c.690-16T>G (n.690-16T>G) c.684-16T>G (n.684-16T>G) c.510-16T>G (n.510-16T>G) c.527-16T>G (n.527-16T>G) | COSMIC |
| 6 | g.136898127T>C | CA2680490207 | PEX7 | c.804-15T>C (n.804-15T>C) c.*69-15T>C (n.*69-15T>C) c.492-15T>C c.690-15T>C (n.690-15T>C) c.684-15T>C (n.684-15T>C) c.510-15T>C (n.510-15T>C) c.527-15T>C (n.527-15T>C) | gnomAD v4 |
| 6 | g.136898128A>G | CA4017776 | PEX7 | c.804-14A>G (n.804-14A>G) c.*69-14A>G (n.*69-14A>G) c.492-14A>G c.690-14A>G (n.690-14A>G) c.684-14A>G (n.684-14A>G) c.510-14A>G (n.510-14A>G) c.527-14A>G (n.527-14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898128A>T | CA2680490209 | PEX7 | c.804-14A>T (n.804-14A>T) c.*69-14A>T (n.*69-14A>T) c.492-14A>T c.690-14A>T (n.690-14A>T) c.684-14A>T (n.684-14A>T) c.510-14A>T (n.510-14A>T) c.527-14A>T (n.527-14A>T) | gnomAD v4 |
| 6 | g.136898129T>C | CA2680490210 | PEX7 | c.804-13T>C (n.804-13T>C) c.*69-13T>C (n.*69-13T>C) c.492-13T>C c.690-13T>C (n.690-13T>C) c.684-13T>C (n.684-13T>C) c.510-13T>C (n.510-13T>C) c.527-13T>C (n.527-13T>C) | gnomAD v4 |
| 6 | g.136898131del | CA2578751937 | PEX7 | c.804-11del (n.804-11del) c.*69-11del (n.*69-11del) c.492-11del c.690-11del (n.690-11del) c.684-11del (n.684-11del) c.510-11del (n.510-11del) c.527-11del (n.527-11del) | |
| 6 | g.136898130_136898131del | CA148218706 | PEX7 | c.804-12_804-11del (n.804-12_804-11del) c.*69-12_*69-11del (n.*69-12_*69-11del) c.492-12_492-11del c.690-12_690-11del (n.690-12_690-11del) c.684-12_684-11del (n.684-12_684-11del) c.510-12_510-11del (n.510-12_510-11del) c.527-12_527-11del (n.527-12_527-11del) | dbSNP |
| 6 | g.136898130T>C | CA2697553765 | PEX7 | c.804-12T>C (n.804-12T>C) c.*69-12T>C (n.*69-12T>C) c.492-12T>C c.690-12T>C (n.690-12T>C) c.684-12T>C (n.684-12T>C) c.510-12T>C (n.510-12T>C) c.527-12T>C (n.527-12T>C) | ClinVar |
| 6 | g.136898131T>C | CA2680490211 | PEX7 | c.804-11T>C (n.804-11T>C) c.*69-11T>C (n.*69-11T>C) c.492-11T>C c.690-11T>C (n.690-11T>C) c.684-11T>C (n.684-11T>C) c.510-11T>C (n.510-11T>C) c.527-11T>C (n.527-11T>C) | gnomAD v4 |
| 6 | g.136898132A>G | CA2680490212 | PEX7 | c.804-10A>G (n.804-10A>G) c.*69-10A>G (n.*69-10A>G) c.492-10A>G c.690-10A>G (n.690-10A>G) c.684-10A>G (n.684-10A>G) c.510-10A>G (n.510-10A>G) c.527-10A>G (n.527-10A>G) | ClinVar gnomAD v4 |
| 6 | g.136898132A>T | CA2680490213 | PEX7 | c.804-10A>T (n.804-10A>T) c.*69-10A>T (n.*69-10A>T) c.492-10A>T c.690-10A>T (n.690-10A>T) c.684-10A>T (n.684-10A>T) c.510-10A>T (n.510-10A>T) c.527-10A>T (n.527-10A>T) | gnomAD v4 |
| 6 | g.136898133T>C | CA4017777 | PEX7 | c.804-9T>C (n.804-9T>C) c.*69-9T>C (n.*69-9T>C) c.492-9T>C c.690-9T>C (n.690-9T>C) c.684-9T>C (n.684-9T>C) c.510-9T>C (n.510-9T>C) c.527-9T>C (n.527-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898134C>A | CA2680490221 | PEX7 | c.804-8C>A (n.804-8C>A) c.*69-8C>A (n.*69-8C>A) c.492-8C>A c.690-8C>A (n.690-8C>A) c.684-8C>A (n.684-8C>A) c.510-8C>A (n.510-8C>A) c.527-8C>A (n.527-8C>A) | gnomAD v4 |
| 6 | g.136898134C>G | CA2573140589 | PEX7 | c.804-8C>G (n.804-8C>G) c.*69-8C>G (n.*69-8C>G) c.492-8C>G c.690-8C>G (n.690-8C>G) c.684-8C>G (n.684-8C>G) c.510-8C>G (n.510-8C>G) c.527-8C>G (n.527-8C>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136898134C>T | CA2680490220 | PEX7 | c.804-8C>T (n.804-8C>T) c.*69-8C>T (n.*69-8C>T) c.492-8C>T c.690-8C>T (n.690-8C>T) c.684-8C>T (n.684-8C>T) c.510-8C>T (n.510-8C>T) c.527-8C>T (n.527-8C>T) | gnomAD v4 |
| 6 | g.136898135T>C | CA2680490225 | PEX7 | c.804-7T>C (n.804-7T>C) c.*69-7T>C (n.*69-7T>C) c.492-7T>C c.690-7T>C (n.690-7T>C) c.684-7T>C (n.684-7T>C) c.510-7T>C (n.510-7T>C) c.527-7T>C (n.527-7T>C) | gnomAD v4 |
| 6 | g.136898136T>C | CA2680490226 | PEX7 | c.804-6T>C (n.804-6T>C) c.*69-6T>C (n.*69-6T>C) c.492-6T>C c.690-6T>C (n.690-6T>C) c.684-6T>C (n.684-6T>C) c.510-6T>C (n.510-6T>C) c.527-6T>C (n.527-6T>C) | gnomAD v4 |
| 6 | g.136898137C>A | CA2680490230 | PEX7 | c.804-5C>A (n.804-5C>A) c.*69-5C>A (n.*69-5C>A) c.492-5C>A c.690-5C>A (n.690-5C>A) c.684-5C>A (n.684-5C>A) c.510-5C>A (n.510-5C>A) c.527-5C>A (n.527-5C>A) | gnomAD v4 |
| 6 | g.136898137C>T | CA4017778 | PEX7 | c.804-5C>T (n.804-5C>T) c.*69-5C>T (n.*69-5C>T) c.492-5C>T c.690-5C>T (n.690-5C>T) c.684-5C>T (n.684-5C>T) c.510-5C>T (n.510-5C>T) c.527-5C>T (n.527-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898139_136898140del | CA2578751938 | PEX7 | c.804-3_804-2del (n.804-3_804-2del) c.*69-3_*69-2del (n.*69-3_*69-2del) c.492-3_492-2del c.690-3_690-2del (n.690-3_690-2del) c.684-3_684-2del (n.684-3_684-2del) c.510-3_510-2del (n.510-3_510-2del) c.527-3_527-2del (n.527-3_527-2del) | gnomAD v4 |
| 6 | g.136898139C>A | CA2680490231 | PEX7 | c.804-3C>A (n.804-3C>A) c.*69-3C>A (n.*69-3C>A) c.492-3C>A c.690-3C>A (n.690-3C>A) c.684-3C>A (n.684-3C>A) c.510-3C>A (n.510-3C>A) c.527-3C>A (n.527-3C>A) | gnomAD v4 |
| 6 | g.136898139C>G | CA2680490232 | PEX7 | c.804-3C>G (n.804-3C>G) c.*69-3C>G (n.*69-3C>G) c.492-3C>G c.690-3C>G (n.690-3C>G) c.684-3C>G (n.684-3C>G) c.510-3C>G (n.510-3C>G) c.527-3C>G (n.527-3C>G) | gnomAD v4 |
| 6 | g.136898139C>T | CA2680490233 | PEX7 | c.804-3C>T (n.804-3C>T) c.*69-3C>T (n.*69-3C>T) c.492-3C>T c.690-3C>T (n.690-3C>T) c.684-3C>T (n.684-3C>T) c.510-3C>T (n.510-3C>T) c.527-3C>T (n.527-3C>T) | gnomAD v4 |
| 6 | g.136898142_136898241del | CA2695207084 | PEX7 | c.804_903del c.*69_*168del c.492_591del c.690_789del c.684_783del c.510_609del c.527_*26del | |
| 6 | g.136898140A>C | CA4017779 | PEX7 | c.804-2A>C (n.804-2A>C) c.*69-2A>C (n.*69-2A>C) c.492-2A>C c.690-2A>C (n.690-2A>C) c.684-2A>C (n.684-2A>C) c.510-2A>C (n.510-2A>C) c.527-2A>C (n.527-2A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898140A>G | CA365766516 | PEX7 | c.804-2A>G (n.804-2A>G) c.*69-2A>G (n.*69-2A>G) c.492-2A>G c.690-2A>G (n.690-2A>G) c.684-2A>G (n.684-2A>G) c.510-2A>G (n.510-2A>G) c.527-2A>G (n.527-2A>G) | gnomAD v4 |
| 6 | g.136898140A>T | CA365766517 | PEX7 | c.804-2A>T (n.804-2A>T) c.*69-2A>T (n.*69-2A>T) c.492-2A>T c.690-2A>T (n.690-2A>T) c.684-2A>T (n.684-2A>T) c.510-2A>T (n.510-2A>T) c.527-2A>T (n.527-2A>T) | |
| 6 | g.136898141G>A | CA365766520 | PEX7 | c.804-1G>A (n.804-1G>A) c.*69-1G>A (n.*69-1G>A) c.492-1G>A c.690-1G>A (n.690-1G>A) c.684-1G>A (n.684-1G>A) c.510-1G>A (n.510-1G>A) c.527-1G>A (n.527-1G>A) | |
| 6 | g.136898141G>C | CA365766518 | PEX7 | c.804-1G>C (n.804-1G>C) c.*69-1G>C (n.*69-1G>C) c.492-1G>C c.690-1G>C (n.690-1G>C) c.684-1G>C (n.684-1G>C) c.510-1G>C (n.510-1G>C) c.527-1G>C (n.527-1G>C) | |
| 6 | g.136898141G>T | CA365766519 | PEX7 | c.804-1G>T (n.804-1G>T) c.*69-1G>T (n.*69-1G>T) c.492-1G>T c.690-1G>T (n.690-1G>T) c.684-1G>T (n.684-1G>T) c.510-1G>T (n.510-1G>T) c.527-1G>T (n.527-1G>T) | |
| 6 | g.136898142A>C | CA365766521 | PEX7 | c.804A>C (p.Arg268Ser) c.*69A>C (n.*69A>C) c.492A>C c.690A>C (p.Arg230Ser) c.684A>C (p.Arg228Ser) c.510A>C (p.Arg170Ser) c.527A>C (p.Asp176Ala) | |
| 6 | g.136898142A>G | CA452231773 | PEX7 | c.804A>G (p.Arg268=) c.*69A>G (n.*69A>G) c.492A>G c.690A>G (p.Arg230=) c.684A>G (p.Arg228=) c.510A>G (p.Arg170=) c.527A>G (p.Asp176Gly) | gnomAD v4 |
| 6 | g.136898142A>T | CA365766522 | PEX7 | c.804A>T (p.Arg268Ser) c.*69A>T (n.*69A>T) c.492A>T c.690A>T (p.Arg230Ser) c.684A>T (p.Arg228Ser) c.510A>T (p.Arg170Ser) c.527A>T (p.Asp176Val) | |
| 6 | g.136898142dup | CA913109572 | PEX7 | c.804dup (p.Phe269IlefsTer8) c.*69dup (n.*69dup) c.492dup c.690dup (p.Phe231IlefsTer8) c.684dup (p.Phe229IlefsTer8) c.510dup (p.Phe171IlefsTer8) c.527dup (p.Asp176GlufsTer?) | |
| 6 | g.136898143T>A | CA365766523 | PEX7 | c.805T>A (p.Phe269Ile) c.*70T>A (n.*70T>A) c.493T>A c.691T>A (p.Phe231Ile) c.685T>A (p.Phe229Ile) c.511T>A (p.Phe171Ile) c.528T>A (p.Asp176Glu) | |
| 6 | g.136898143T>C | CA365766524 | PEX7 | c.805T>C (p.Phe269Leu) c.*70T>C (n.*70T>C) c.493T>C c.691T>C (p.Phe231Leu) c.685T>C (p.Phe229Leu) c.511T>C (p.Phe171Leu) c.528T>C (p.Asp176=) | |
| 6 | g.136898143T>G | CA365766525 | PEX7 | c.805T>G (p.Phe269Val) c.*70T>G (n.*70T>G) c.493T>G c.691T>G (p.Phe231Val) c.685T>G (p.Phe229Val) c.511T>G (p.Phe171Val) c.528T>G (p.Asp176Glu) | |
| 6 | g.136898144dup | CA658823308 | PEX7 | c.806dup (p.Trp270LeufsTer7) c.*71dup (n.*71dup) c.494dup c.692dup (p.Trp232LeufsTer7) c.686dup (p.Trp230LeufsTer7) c.512dup (p.Trp172LeufsTer7) c.529dup (p.Ser177PhefsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898144T>A | CA365766526 | PEX7 | c.806T>A (p.Phe269Tyr) c.*71T>A (n.*71T>A) c.494T>A c.692T>A (p.Phe231Tyr) c.686T>A (p.Phe229Tyr) c.512T>A (p.Phe171Tyr) c.529T>A (p.Ser177Thr) | |
| 6 | g.136898144T>C | CA365766528 | PEX7 | c.806T>C (p.Phe269Ser) c.*71T>C (n.*71T>C) c.494T>C c.692T>C (p.Phe231Ser) c.686T>C (p.Phe229Ser) c.512T>C (p.Phe171Ser) c.529T>C (p.Ser177Pro) | |
| 6 | g.136898144T>G | CA365766527 | PEX7 | c.806T>G (p.Phe269Cys) c.*71T>G (n.*71T>G) c.494T>G c.692T>G (p.Phe231Cys) c.686T>G (p.Phe229Cys) c.512T>G (p.Phe171Cys) c.529T>G (p.Ser177Ala) | |
| 6 | g.136898145C>A | CA148218719 | PEX7 | c.807C>A (p.Phe269Leu) c.*72C>A (n.*72C>A) c.495C>A c.693C>A (p.Phe231Leu) c.687C>A (p.Phe229Leu) c.513C>A (p.Phe171Leu) c.530C>A (p.Ser177Tyr) | dbSNP gnomAD v4 |
| 6 | g.136898145C>G | CA365766529 | PEX7 | c.807C>G (p.Phe269Leu) c.*72C>G (n.*72C>G) c.495C>G c.693C>G (p.Phe231Leu) c.687C>G (p.Phe229Leu) c.513C>G (p.Phe171Leu) c.530C>G (p.Ser177Cys) | |
| 6 | g.136898145C>T | CA452231774 | PEX7 | c.807C>T (p.Phe269=) c.*72C>T (n.*72C>T) c.495C>T c.693C>T (p.Phe231=) c.687C>T (p.Phe229=) c.513C>T (p.Phe171=) c.530C>T (p.Ser177Phe) | gnomAD v4 |
| 6 | g.136898146T>A | CA365766530 | PEX7 | c.808T>A (p.Trp270Arg) c.*73T>A (n.*73T>A) c.496T>A c.694T>A (p.Trp232Arg) c.688T>A (p.Trp230Arg) c.514T>A (p.Trp172Arg) c.531T>A (p.Ser177=) | |
| 6 | g.136898146T>C | CA365766531 | PEX7 | c.808T>C (p.Trp270Arg) c.*73T>C (n.*73T>C) c.496T>C c.694T>C (p.Trp232Arg) c.688T>C (p.Trp230Arg) c.514T>C (p.Trp172Arg) c.531T>C (p.Ser177=) | gnomAD v4 |
| 6 | g.136898146T>G | CA365766532 | PEX7 | c.808T>G (p.Trp270Gly) c.*73T>G (n.*73T>G) c.496T>G c.694T>G (p.Trp232Gly) c.688T>G (p.Trp230Gly) c.514T>G (p.Trp172Gly) c.531T>G (p.Ser177=) | |
| 6 | g.136898147G>A | CA365766533 | PEX7 | c.809G>A (p.Trp270Ter) c.*74G>A (n.*74G>A) c.497G>A c.695G>A (p.Trp232Ter) c.689G>A (p.Trp230Ter) c.515G>A (p.Trp172Ter) c.532G>A (p.Gly178Arg) | dbSNP |
| 6 | g.136898147G>C | CA365766534 | PEX7 | c.809G>C (p.Trp270Ser) c.*74G>C (n.*74G>C) c.497G>C c.695G>C (p.Trp232Ser) c.689G>C (p.Trp230Ser) c.515G>C (p.Trp172Ser) c.532G>C (p.Gly178Arg) | |
| 6 | g.136898147G>T | CA365766535 | PEX7 | c.809G>T (p.Trp270Leu) c.*74G>T (n.*74G>T) c.497G>T c.695G>T (p.Trp232Leu) c.689G>T (p.Trp230Leu) c.515G>T (p.Trp172Leu) c.532G>T (p.Gly178Ter) | |
| 6 | g.136898148del | CA2578751939 | PEX7 | c.810del (p.Trp270Ter) c.*75del (n.*75del) c.498del c.696del (p.Trp232Ter) c.690del (p.Trp230Ter) c.516del (p.Trp172Ter) c.533del (p.Gly178GlufsTer6) | gnomAD v4 |
| 6 | g.136898148G>A | CA365766536 | PEX7 | c.810G>A (p.Trp270Ter) c.*75G>A (n.*75G>A) c.498G>A c.696G>A (p.Trp232Ter) c.690G>A (p.Trp230Ter) c.516G>A (p.Trp172Ter) c.533G>A (p.Gly178Glu) | |
| 6 | g.136898148G>C | CA365766537 | PEX7 | c.810G>C (p.Trp270Cys) c.*75G>C (n.*75G>C) c.498G>C c.696G>C (p.Trp232Cys) c.690G>C (p.Trp230Cys) c.516G>C (p.Trp172Cys) c.533G>C (p.Gly178Ala) | |
| 6 | g.136898148G>T | CA365766538 | PEX7 | c.810G>T (p.Trp270Cys) c.*75G>T (n.*75G>T) c.498G>T c.696G>T (p.Trp232Cys) c.690G>T (p.Trp230Cys) c.516G>T (p.Trp172Cys) c.533G>T (p.Gly178Val) | |
| 6 | g.136898149A>C | CA365766541 | PEX7 | c.811A>C (p.Asn271His) c.*76A>C (n.*76A>C) c.499A>C c.697A>C (p.Asn233His) c.691A>C (p.Asn231His) c.517A>C (p.Asn173His) c.534A>C (p.Gly178=) | |
| 6 | g.136898149A>G | CA365766540 | PEX7 | c.811A>G (p.Asn271Asp) c.*76A>G (n.*76A>G) c.499A>G c.697A>G (p.Asn233Asp) c.691A>G (p.Asn231Asp) c.517A>G (p.Asn173Asp) c.534A>G (p.Gly178=) | gnomAD v4 |
| 6 | g.136898149A>T | CA365766539 | PEX7 | c.811A>T (p.Asn271Tyr) c.*76A>T (n.*76A>T) c.499A>T c.697A>T (p.Asn233Tyr) c.691A>T (p.Asn231Tyr) c.517A>T (p.Asn173Tyr) c.534A>T (p.Gly178=) | |
| 6 | g.136898150A>C | CA365766543 | PEX7 | c.812A>C (p.Asn271Thr) c.*77A>C (n.*77A>C) c.500A>C c.698A>C (p.Asn233Thr) c.692A>C (p.Asn231Thr) c.518A>C (p.Asn173Thr) c.535A>C (p.Thr179Pro) | |
| 6 | g.136898150A>G | CA365766542 | PEX7 | c.812A>G (p.Asn271Ser) c.*77A>G (n.*77A>G) c.500A>G c.698A>G (p.Asn233Ser) c.692A>G (p.Asn231Ser) c.518A>G (p.Asn173Ser) c.535A>G (p.Thr179Ala) | |
| 6 | g.136898150A>T | CA365766544 | PEX7 | c.812A>T (p.Asn271Ile) c.*77A>T (n.*77A>T) c.500A>T c.698A>T (p.Asn233Ile) c.692A>T (p.Asn231Ile) c.518A>T (p.Asn173Ile) c.535A>T (p.Thr179Ser) | |
| 6 | g.136898151C>A | CA365766545 | PEX7 | c.813C>A (p.Asn271Lys) c.*78C>A (n.*78C>A) c.501C>A c.699C>A (p.Asn233Lys) c.693C>A (p.Asn231Lys) c.519C>A (p.Asn173Lys) c.536C>A (p.Thr179Asn) | gnomAD v4 |
| 6 | g.136898151C>G | CA365766546 | PEX7 | c.813C>G (p.Asn271Lys) c.*78C>G (n.*78C>G) c.501C>G c.699C>G (p.Asn233Lys) c.693C>G (p.Asn231Lys) c.519C>G (p.Asn173Lys) c.536C>G (p.Thr179Ser) | |
| 6 | g.136898151C>T | CA452231775 | PEX7 | c.813C>T (p.Asn271=) c.*78C>T (n.*78C>T) c.501C>T c.699C>T (p.Asn233=) c.693C>T (p.Asn231=) c.519C>T (p.Asn173=) c.536C>T (p.Thr179Ile) | ClinVar dbSNP |
| 6 | g.136898151_136898152del | CA913109573 | PEX7 | c.813_814del (p.Ser273LysfsTer3) c.*78_*79del (n.*78_*79del) c.501_502del c.699_700del (p.Ser235LysfsTer3) c.693_694del (p.Ser233LysfsTer3) c.519_520del (p.Ser175LysfsTer3) c.536_537del (p.Thr179IlefsTer?) | |
| 6 | g.136898152T>A | CA365766547 | PEX7 | c.814T>A (p.Phe272Ile) c.*79T>A (n.*79T>A) c.502T>A c.700T>A (p.Phe234Ile) c.694T>A (p.Phe232Ile) c.520T>A (p.Phe174Ile) c.537T>A (p.Thr179=) | |
| 6 | g.136898152T>C | CA365766548 | PEX7 | c.814T>C (p.Phe272Leu) c.*79T>C (n.*79T>C) c.502T>C c.700T>C (p.Phe234Leu) c.694T>C (p.Phe232Leu) c.520T>C (p.Phe174Leu) c.537T>C (p.Thr179=) | |
| 6 | g.136898152T>G | CA365766549 | PEX7 | c.814T>G (p.Phe272Val) c.*79T>G (n.*79T>G) c.502T>G c.700T>G (p.Phe234Val) c.694T>G (p.Phe232Val) c.520T>G (p.Phe174Val) c.537T>G (p.Thr179=) | |
| 6 | g.136898155del | CA658823309 | PEX7 | c.817del (p.Ser273GlnfsTer20) c.*82del (n.*82del) c.505del c.703del (p.Ser235GlnfsTer20) c.697del (p.Ser233GlnfsTer20) c.523del (p.Ser175GlnfsTer20) c.540del (p.Gln181LysfsTer3) | ClinVar dbSNP |
| 6 | g.136898153T>A | CA365766550 | PEX7 | c.815T>A (p.Phe272Tyr) c.*80T>A (n.*80T>A) c.503T>A c.701T>A (p.Phe234Tyr) c.695T>A (p.Phe232Tyr) c.521T>A (p.Phe174Tyr) c.538T>A (p.Phe180Ile) | |
| 6 | g.136898153T>C | CA365766551 | PEX7 | c.815T>C (p.Phe272Ser) c.*80T>C (n.*80T>C) c.503T>C c.701T>C (p.Phe234Ser) c.695T>C (p.Phe232Ser) c.521T>C (p.Phe174Ser) c.538T>C (p.Phe180Leu) | |
| 6 | g.136898153T>G | CA365766552 | PEX7 | c.815T>G (p.Phe272Cys) c.*80T>G (n.*80T>G) c.503T>G c.701T>G (p.Phe234Cys) c.695T>G (p.Phe232Cys) c.521T>G (p.Phe174Cys) c.538T>G (p.Phe180Val) | |
| 6 | g.136898154T>A | CA365766553 | PEX7 | c.816T>A (p.Phe272Leu) c.*81T>A (n.*81T>A) c.504T>A c.702T>A (p.Phe234Leu) c.696T>A (p.Phe232Leu) c.522T>A (p.Phe174Leu) c.539T>A (p.Phe180Tyr) | |
| 6 | g.136898154T>C | CA452231776 | PEX7 | c.816T>C (p.Phe272=) c.*81T>C (n.*81T>C) c.504T>C c.702T>C (p.Phe234=) c.696T>C (p.Phe232=) c.522T>C (p.Phe174=) c.539T>C (p.Phe180Ser) | |
| 6 | g.136898154T>G | CA365766554 | PEX7 | c.816T>G (p.Phe272Leu) c.*81T>G (n.*81T>G) c.504T>G c.702T>G (p.Phe234Leu) c.696T>G (p.Phe232Leu) c.522T>G (p.Phe174Leu) c.539T>G (p.Phe180Cys) | |
| 6 | g.136898155T>A | CA365766555 | PEX7 | c.817T>A (p.Ser273Thr) c.*82T>A (n.*82T>A) c.505T>A c.703T>A (p.Ser235Thr) c.697T>A (p.Ser233Thr) c.523T>A (p.Ser175Thr) c.540T>A (p.Phe180Leu) | |
| 6 | g.136898155T>C | CA365766556 | PEX7 | c.817T>C (p.Ser273Pro) c.*82T>C (n.*82T>C) c.505T>C c.703T>C (p.Ser235Pro) c.697T>C (p.Ser233Pro) c.523T>C (p.Ser175Pro) c.540T>C (p.Phe180=) | |
| 6 | g.136898155T>G | CA365766557 | PEX7 | c.817T>G (p.Ser273Ala) c.*82T>G (n.*82T>G) c.505T>G c.703T>G (p.Ser235Ala) c.697T>G (p.Ser233Ala) c.523T>G (p.Ser175Ala) c.540T>G (p.Phe180Leu) | |
| 6 | g.136898156C>A | CA365766560 | PEX7 | c.818C>A (p.Ser273Ter) c.*83C>A (n.*83C>A) c.506C>A c.704C>A (p.Ser235Ter) c.698C>A (p.Ser233Ter) c.524C>A (p.Ser175Ter) c.541C>A (p.Gln181Lys) | |
| 6 | g.136898156C>G | CA365766558 | PEX7 | c.818C>G (p.Ser273Ter) c.*83C>G (n.*83C>G) c.506C>G c.704C>G (p.Ser235Ter) c.698C>G (p.Ser233Ter) c.524C>G (p.Ser175Ter) c.541C>G (p.Gln181Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898156C>T | CA365766559 | PEX7 | c.818C>T (p.Ser273Leu) c.*83C>T (n.*83C>T) c.506C>T c.704C>T (p.Ser235Leu) c.698C>T (p.Ser233Leu) c.524C>T (p.Ser175Leu) c.541C>T (p.Gln181Ter) | |
| 6 | g.136898157A>C | CA452231777 | PEX7 | c.819A>C (p.Ser273=) c.*84A>C (n.*84A>C) c.507A>C c.705A>C (p.Ser235=) c.699A>C (p.Ser233=) c.525A>C (p.Ser175=) c.542A>C (p.Gln181Pro) | |
| 6 | g.136898157A>G | CA452231778 | PEX7 | c.819A>G (p.Ser273=) c.*84A>G (n.*84A>G) c.507A>G c.705A>G (p.Ser235=) c.699A>G (p.Ser233=) c.525A>G (p.Ser175=) c.542A>G (p.Gln181Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898157A>T | CA452231779 | PEX7 | c.819A>T (p.Ser273=) c.*84A>T (n.*84A>T) c.507A>T c.705A>T (p.Ser235=) c.699A>T (p.Ser233=) c.525A>T (p.Ser175=) c.542A>T (p.Gln181Leu) | |
| 6 | g.136898158A>C | CA365766561 | PEX7 | c.820A>C (p.Lys274Gln) c.*85A>C (n.*85A>C) c.508A>C c.706A>C (p.Lys236Gln) c.700A>C (p.Lys234Gln) c.526A>C (p.Lys176Gln) c.543A>C (p.Gln181His) | |
| 6 | g.136898158A>G | CA365766562 | PEX7 | c.820A>G (p.Lys274Glu) c.*85A>G (n.*85A>G) c.508A>G c.706A>G (p.Lys236Glu) c.700A>G (p.Lys234Glu) c.526A>G (p.Lys176Glu) c.543A>G (p.Gln181=) | |
| 6 | g.136898158A>T | CA365766563 | PEX7 | c.820A>T (p.Lys274Ter) c.*85A>T (n.*85A>T) c.508A>T c.706A>T (p.Lys236Ter) c.700A>T (p.Lys234Ter) c.526A>T (p.Lys176Ter) c.543A>T (p.Gln181His) | |
| 6 | g.136898159A>C | CA365766564 | PEX7 | c.821A>C (p.Lys274Thr) c.*86A>C (n.*86A>C) c.509A>C c.707A>C (p.Lys236Thr) c.701A>C (p.Lys234Thr) c.527A>C (p.Lys176Thr) c.544A>C (p.Ser182Arg) | |
| 6 | g.136898159A>G | CA365766565 | PEX7 | c.821A>G (p.Lys274Arg) c.*86A>G (n.*86A>G) c.509A>G c.707A>G (p.Lys236Arg) c.701A>G (p.Lys234Arg) c.527A>G (p.Lys176Arg) c.544A>G (p.Ser182Gly) | |
| 6 | g.136898159A>T | CA365766566 | PEX7 | c.821A>T (p.Lys274Met) c.*86A>T (n.*86A>T) c.509A>T c.707A>T (p.Lys236Met) c.701A>T (p.Lys234Met) c.527A>T (p.Lys176Met) c.544A>T (p.Ser182Cys) | |
| 6 | g.136898160G>A | CA452231780 | PEX7 | c.822G>A (p.Lys274=) c.*87G>A (n.*87G>A) c.510G>A c.708G>A (p.Lys236=) c.702G>A (p.Lys234=) c.528G>A (p.Lys176=) c.545G>A (p.Ser182Asn) | ClinVar dbSNP |
| 6 | g.136898160G>C | CA365766567 | PEX7 | c.822G>C (p.Lys274Asn) c.*87G>C (n.*87G>C) c.510G>C c.708G>C (p.Lys236Asn) c.702G>C (p.Lys234Asn) c.528G>C (p.Lys176Asn) c.545G>C (p.Ser182Thr) | |
| 6 | g.136898160G>T | CA365766568 | PEX7 | c.822G>T (p.Lys274Asn) c.*87G>T (n.*87G>T) c.510G>T c.708G>T (p.Lys236Asn) c.702G>T (p.Lys234Asn) c.528G>T (p.Lys176Asn) c.545G>T (p.Ser182Ile) | |
| 6 | g.136898161C>A | CA365766569 | PEX7 | c.823C>A (p.Pro275Thr) c.*88C>A (n.*88C>A) c.511C>A c.709C>A (p.Pro237Thr) c.703C>A (p.Pro235Thr) c.529C>A (p.Pro177Thr) c.546C>A (p.Ser182Arg) | gnomAD v4 |
| 6 | g.136898161C>G | CA365766570 | PEX7 | c.823C>G (p.Pro275Ala) c.*88C>G (n.*88C>G) c.511C>G c.709C>G (p.Pro237Ala) c.703C>G (p.Pro235Ala) c.529C>G (p.Pro177Ala) c.546C>G (p.Ser182Arg) | gnomAD v4 |
| 6 | g.136898161C>T | CA4017780 | PEX7 | c.823C>T (p.Pro275Ser) c.*88C>T (n.*88C>T) c.511C>T c.709C>T (p.Pro237Ser) c.703C>T (p.Pro235Ser) c.529C>T (p.Pro177Ser) c.546C>T (p.Ser182=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136898162C>A | CA365766573 | PEX7 | c.824C>A (p.Pro275His) c.*89C>A (n.*89C>A) c.512C>A c.710C>A (p.Pro237His) c.704C>A (p.Pro235His) c.530C>A (p.Pro177His) c.547C>A (p.Leu183Met) | |
| 6 | g.136898162C>G | CA365766572 | PEX7 | c.824C>G (p.Pro275Arg) c.*89C>G (n.*89C>G) c.512C>G c.710C>G (p.Pro237Arg) c.704C>G (p.Pro235Arg) c.530C>G (p.Pro177Arg) c.547C>G (p.Leu183Val) | |
| 6 | g.136898162C>T | CA365766571 | PEX7 | c.824C>T (p.Pro275Leu) c.*89C>T (n.*89C>T) c.512C>T c.710C>T (p.Pro237Leu) c.704C>T (p.Pro235Leu) c.530C>T (p.Pro177Leu) c.547C>T (p.Leu183=) | |
| 6 | g.136898163T>A | CA452231781 | PEX7 | c.825T>A (p.Pro275=) c.*90T>A (n.*90T>A) c.513T>A c.711T>A (p.Pro237=) c.705T>A (p.Pro235=) c.531T>A (p.Pro177=) c.548T>A (p.Leu183Gln) | |
| 6 | g.136898163T>C | CA452231782 | PEX7 | c.825T>C (p.Pro275=) c.*90T>C (n.*90T>C) c.513T>C c.711T>C (p.Pro237=) c.705T>C (p.Pro235=) c.531T>C (p.Pro177=) c.548T>C (p.Leu183Pro) | |
| 6 | g.136898163T>G | CA452231783 | PEX7 | c.825T>G (p.Pro275=) c.*90T>G (n.*90T>G) c.513T>G c.711T>G (p.Pro237=) c.705T>G (p.Pro235=) c.531T>G (p.Pro177=) c.548T>G (p.Leu183Arg) | |
| 6 | g.136898164G>A | CA365766574 | PEX7 | c.826G>A (p.Asp276Asn) c.*91G>A (n.*91G>A) c.514G>A c.712G>A (p.Asp238Asn) c.706G>A (p.Asp236Asn) c.532G>A (p.Asp178Asn) c.549G>A (p.Leu183=) | |
| 6 | g.136898164G>C | CA365766575 | PEX7 | c.826G>C (p.Asp276His) c.*91G>C (n.*91G>C) c.514G>C c.712G>C (p.Asp238His) c.706G>C (p.Asp236His) c.532G>C (p.Asp178His) c.549G>C (p.Leu183=) | |
| 6 | g.136898164G>T | CA365766577 | PEX7 | c.826G>T (p.Asp276Tyr) c.*91G>T (n.*91G>T) c.514G>T c.712G>T (p.Asp238Tyr) c.706G>T (p.Asp236Tyr) c.532G>T (p.Asp178Tyr) c.549G>T (p.Leu183=) | |
| 6 | g.136898165A>C | CA365766579 | PEX7 | c.827A>C (p.Asp276Ala) c.*92A>C (n.*92A>C) c.515A>C c.713A>C (p.Asp238Ala) c.707A>C (p.Asp236Ala) c.533A>C (p.Asp178Ala) c.550A>C (p.Thr184Pro) | |
| 6 | g.136898165A>G | CA365766581 | PEX7 | c.827A>G (p.Asp276Gly) c.*92A>G (n.*92A>G) c.515A>G c.713A>G (p.Asp238Gly) c.707A>G (p.Asp236Gly) c.533A>G (p.Asp178Gly) c.550A>G (p.Thr184Ala) | |
| 6 | g.136898165A>T | CA365766582 | PEX7 | c.827A>T (p.Asp276Val) c.*92A>T (n.*92A>T) c.515A>T c.713A>T (p.Asp238Val) c.707A>T (p.Asp236Val) c.533A>T (p.Asp178Val) c.550A>T (p.Thr184Ser) | |
| 6 | g.136898166C>A | CA365766586 | PEX7 | c.828C>A (p.Asp276Glu) c.*93C>A (n.*93C>A) c.516C>A c.714C>A (p.Asp238Glu) c.708C>A (p.Asp236Glu) c.534C>A (p.Asp178Glu) c.551C>A (p.Thr184Asn) | |
| 6 | g.136898166C>G | CA365766584 | PEX7 | c.828C>G (p.Asp276Glu) c.*93C>G (n.*93C>G) c.516C>G c.714C>G (p.Asp238Glu) c.708C>G (p.Asp236Glu) c.534C>G (p.Asp178Glu) c.551C>G (p.Thr184Ser) | gnomAD v4 COSMIC |
| 6 | g.136898166C>T | CA452231784 | PEX7 | c.828C>T (p.Asp276=) c.*93C>T (n.*93C>T) c.516C>T c.714C>T (p.Asp238=) c.708C>T (p.Asp236=) c.534C>T (p.Asp178=) c.551C>T (p.Thr184Ile) | ClinVar |
| 6 | g.136898170_136898171del | CA645549445 | PEX7 | c.832_833del (p.Leu278SerfsTer2) c.*97_*98del (n.*97_*98del) c.520_521del c.718_719del (p.Leu240SerfsTer2) c.712_713del (p.Leu238SerfsTer2) c.538_539del (p.Leu180SerfsTer2) c.555_556del (p.Phe186LeufsTer?) | COSMIC |
| 6 | g.136898167T>A | CA365766588 | PEX7 | c.829T>A (p.Ser277Thr) c.*94T>A (n.*94T>A) c.517T>A c.715T>A (p.Ser239Thr) c.709T>A (p.Ser237Thr) c.535T>A (p.Ser179Thr) c.552T>A (p.Thr184=) | |
| 6 | g.136898167T>C | CA365766589 | PEX7 | c.829T>C (p.Ser277Pro) c.*94T>C (n.*94T>C) c.517T>C c.715T>C (p.Ser239Pro) c.709T>C (p.Ser237Pro) c.535T>C (p.Ser179Pro) c.552T>C (p.Thr184=) | gnomAD v4 |
| 6 | g.136898167T>G | CA365766591 | PEX7 | c.829T>G (p.Ser277Ala) c.*94T>G (n.*94T>G) c.517T>G c.715T>G (p.Ser239Ala) c.709T>G (p.Ser237Ala) c.535T>G (p.Ser179Ala) c.552T>G (p.Thr184=) | |
| 6 | g.136898168C>A | CA365766592 | PEX7 | c.830C>A (p.Ser277Tyr) c.*95C>A (n.*95C>A) c.518C>A c.716C>A (p.Ser239Tyr) c.710C>A (p.Ser237Tyr) c.536C>A (p.Ser179Tyr) c.553C>A (p.Leu185Ile) | |
| 6 | g.136898168C>G | CA365766594 | PEX7 | c.830C>G (p.Ser277Cys) c.*95C>G (n.*95C>G) c.518C>G c.716C>G (p.Ser239Cys) c.710C>G (p.Ser237Cys) c.536C>G (p.Ser179Cys) c.553C>G (p.Leu185Val) | ClinVar |
| 6 | g.136898168C>T | CA365766595 | PEX7 | c.830C>T (p.Ser277Phe) c.*95C>T (n.*95C>T) c.518C>T c.716C>T (p.Ser239Phe) c.710C>T (p.Ser237Phe) c.536C>T (p.Ser179Phe) c.553C>T (p.Leu185Phe) | |
| 6 | g.136898169T>A | CA452231787 | PEX7 | c.831T>A (p.Ser277=) c.*96T>A (n.*96T>A) c.519T>A c.717T>A (p.Ser239=) c.711T>A (p.Ser237=) c.537T>A (p.Ser179=) c.554T>A (p.Leu185His) | |
| 6 | g.136898169T>C | CA452231786 | PEX7 | c.831T>C (p.Ser277=) c.*96T>C (n.*96T>C) c.519T>C c.717T>C (p.Ser239=) c.711T>C (p.Ser237=) c.537T>C (p.Ser179=) c.554T>C (p.Leu185Pro) | |
| 6 | g.136898169T>G | CA452231785 | PEX7 | c.831T>G (p.Ser277=) c.*96T>G (n.*96T>G) c.519T>G c.717T>G (p.Ser239=) c.711T>G (p.Ser237=) c.537T>G (p.Ser179=) c.554T>G (p.Leu185Arg) | |
| 6 | g.136898170C>A | CA365766597 | PEX7 | c.832C>A (p.Leu278Ile) c.*97C>A (n.*97C>A) c.520C>A c.718C>A (p.Leu240Ile) c.712C>A (p.Leu238Ile) c.538C>A (p.Leu180Ile) c.555C>A (p.Leu185=) | |
| 6 | g.136898170C>G | CA365766601 | PEX7 | c.832C>G (p.Leu278Val) c.*97C>G (n.*97C>G) c.520C>G c.718C>G (p.Leu240Val) c.712C>G (p.Leu238Val) c.538C>G (p.Leu180Val) c.555C>G (p.Leu185=) | |
| 6 | g.136898170C>T | CA365766599 | PEX7 | c.832C>T (p.Leu278Phe) c.*97C>T (n.*97C>T) c.520C>T c.718C>T (p.Leu240Phe) c.712C>T (p.Leu238Phe) c.538C>T (p.Leu180Phe) c.555C>T (p.Leu185=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.136898171T>A | CA365766602 | PEX7 | c.833T>A (p.Leu278His) c.*98T>A (n.*98T>A) c.521T>A c.719T>A (p.Leu240His) c.713T>A (p.Leu238His) c.539T>A (p.Leu180His) c.556T>A (p.Phe186Ile) | COSMIC |
| 6 | g.136898171T>C | CA365766603 | PEX7 | c.833T>C (p.Leu278Pro) c.*98T>C (n.*98T>C) c.521T>C c.719T>C (p.Leu240Pro) c.713T>C (p.Leu238Pro) c.539T>C (p.Leu180Pro) c.556T>C (p.Phe186Leu) | |
| 6 | g.136898171T>G | CA365766605 | PEX7 | c.833T>G (p.Leu278Arg) c.*98T>G (n.*98T>G) c.521T>G c.719T>G (p.Leu240Arg) c.713T>G (p.Leu238Arg) c.539T>G (p.Leu180Arg) c.556T>G (p.Phe186Val) | gnomAD v4 |
| 6 | g.136898172T>A | CA452231788 | PEX7 | c.834T>A (p.Leu278=) c.*99T>A (n.*99T>A) c.522T>A c.720T>A (p.Leu240=) c.714T>A (p.Leu238=) c.540T>A (p.Leu180=) c.557T>A (p.Phe186Tyr) | |
| 6 | g.136898172T>C | CA452231789 | PEX7 | c.834T>C (p.Leu278=) c.*99T>C (n.*99T>C) c.522T>C c.720T>C (p.Leu240=) c.714T>C (p.Leu238=) c.540T>C (p.Leu180=) c.557T>C (p.Phe186Ser) | |
| 6 | g.136898172T>G | CA452231790 | PEX7 | c.834T>G (p.Leu278=) c.*99T>G (n.*99T>G) c.522T>G c.720T>G (p.Leu240=) c.714T>G (p.Leu238=) c.540T>G (p.Leu180=) c.557T>G (p.Phe186Cys) | |
| 6 | g.136898173C>A | CA365766607 | PEX7 | c.835C>A (p.Leu279Ile) c.*100C>A (n.*100C>A) c.523C>A c.721C>A (p.Leu241Ile) c.715C>A (p.Leu239Ile) c.541C>A (p.Leu181Ile) c.558C>A (p.Phe186Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136898173C>G | CA365766608 | PEX7 | c.835C>G (p.Leu279Val) c.*100C>G (n.*100C>G) c.523C>G c.721C>G (p.Leu241Val) c.715C>G (p.Leu239Val) c.541C>G (p.Leu181Val) c.558C>G (p.Phe186Leu) | gnomAD v4 |
| 6 | g.136898173C>T | CA365766610 | PEX7 | c.835C>T (p.Leu279Phe) c.*100C>T (n.*100C>T) c.523C>T c.721C>T (p.Leu241Phe) c.715C>T (p.Leu239Phe) c.541C>T (p.Leu181Phe) c.558C>T (p.Phe186=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898174T>A | CA365766612 | PEX7 | c.836T>A (p.Leu279His) c.*101T>A (n.*101T>A) c.524T>A c.722T>A (p.Leu241His) c.716T>A (p.Leu239His) c.542T>A (p.Leu181His) c.559T>A (p.Leu187Met) | |
| 6 | g.136898174T>C | CA365766614 | PEX7 | c.836T>C (p.Leu279Pro) c.*101T>C (n.*101T>C) c.524T>C c.722T>C (p.Leu241Pro) c.716T>C (p.Leu239Pro) c.542T>C (p.Leu181Pro) c.559T>C (p.Leu187=) | |
| 6 | g.136898174T>G | CA365766615 | PEX7 | c.836T>G (p.Leu279Arg) c.*101T>G (n.*101T>G) c.524T>G c.722T>G (p.Leu241Arg) c.716T>G (p.Leu239Arg) c.542T>G (p.Leu181Arg) c.559T>G (p.Leu187Val) | |
| 6 | g.136898175T>A | CA452231791 | PEX7 | c.837T>A (p.Leu279=) c.*102T>A (n.*102T>A) c.525T>A c.723T>A (p.Leu241=) c.717T>A (p.Leu239=) c.543T>A (p.Leu181=) c.560T>A (p.Leu187Ter) | |
| 6 | g.136898175T>C | CA452231793 | PEX7 | c.837T>C (p.Leu279=) c.*102T>C (n.*102T>C) c.525T>C c.723T>C (p.Leu241=) c.717T>C (p.Leu239=) c.543T>C (p.Leu181=) c.560T>C (p.Leu187Ser) | |
| 6 | g.136898175T>G | CA452231792 | PEX7 | c.837T>G (p.Leu279=) c.*102T>G (n.*102T>G) c.525T>G c.723T>G (p.Leu241=) c.717T>G (p.Leu239=) c.543T>G (p.Leu181=) c.560T>G (p.Leu187Trp) | |
| 6 | g.136898176G>A | CA365766616 | PEX7 | c.838G>A (p.Glu280Lys) c.*103G>A (n.*103G>A) c.526G>A c.724G>A (p.Glu242Lys) c.718G>A (p.Glu240Lys) c.544G>A (p.Glu182Lys) c.561G>A (p.Leu187=) | |
| 6 | g.136898176G>C | CA365766618 | PEX7 | c.838G>C (p.Glu280Gln) c.*103G>C (n.*103G>C) c.526G>C c.724G>C (p.Glu242Gln) c.718G>C (p.Glu240Gln) c.544G>C (p.Glu182Gln) c.561G>C (p.Leu187Phe) | |
| 6 | g.136898176G>T | CA365766620 | PEX7 | c.838G>T (p.Glu280Ter) c.*103G>T (n.*103G>T) c.526G>T c.724G>T (p.Glu242Ter) c.718G>T (p.Glu240Ter) c.544G>T (p.Glu182Ter) c.561G>T (p.Leu187Phe) | |
| 6 | g.136898177A>C | CA365766623 | PEX7 | c.839A>C (p.Glu280Ala) c.*104A>C (n.*104A>C) c.527A>C c.725A>C (p.Glu242Ala) c.719A>C (p.Glu240Ala) c.545A>C (p.Glu182Ala) c.562A>C (p.Lys188Gln) | |
| 6 | g.136898177A>G | CA365766625 | PEX7 | c.839A>G (p.Glu280Gly) c.*104A>G (n.*104A>G) c.527A>G c.725A>G (p.Glu242Gly) c.719A>G (p.Glu240Gly) c.545A>G (p.Glu182Gly) c.562A>G (p.Lys188Glu) | |
| 6 | g.136898177A>T | CA365766622 | PEX7 | c.839A>T (p.Glu280Val) c.*104A>T (n.*104A>T) c.527A>T c.725A>T (p.Glu242Val) c.719A>T (p.Glu240Val) c.545A>T (p.Glu182Val) c.562A>T (p.Lys188Ter) | |
| 6 | g.136898178A>C | CA365766627 | PEX7 | c.840A>C (p.Glu280Asp) c.*105A>C (n.*105A>C) c.528A>C c.726A>C (p.Glu242Asp) c.720A>C (p.Glu240Asp) c.546A>C (p.Glu182Asp) c.563A>C (p.Lys188Thr) | |
| 6 | g.136898178A>G | CA452231794 | PEX7 | c.840A>G (p.Glu280=) c.*105A>G (n.*105A>G) c.528A>G c.726A>G (p.Glu242=) c.720A>G (p.Glu240=) c.546A>G (p.Glu182=) c.563A>G (p.Lys188Arg) | |
| 6 | g.136898178A>T | CA365766628 | PEX7 | c.840A>T (p.Glu280Asp) c.*105A>T (n.*105A>T) c.528A>T c.726A>T (p.Glu242Asp) c.720A>T (p.Glu240Asp) c.546A>T (p.Glu182Asp) c.563A>T (p.Lys188Ile) | |
| 6 | g.136898179A>C | CA365766630 | PEX7 | c.841A>C (p.Thr281Pro) c.*106A>C (n.*106A>C) c.529A>C c.727A>C (p.Thr243Pro) c.721A>C (p.Thr241Pro) c.547A>C (p.Thr183Pro) c.564A>C (p.Lys188Asn) | |
| 6 | g.136898179A>G | CA365766632 | PEX7 | c.841A>G (p.Thr281Ala) c.*106A>G (n.*106A>G) c.529A>G c.727A>G (p.Thr243Ala) c.721A>G (p.Thr241Ala) c.547A>G (p.Thr183Ala) c.564A>G (p.Lys188=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136898179A>T | CA365766634 | PEX7 | c.841A>T (p.Thr281Ser) c.*106A>T (n.*106A>T) c.529A>T c.727A>T (p.Thr243Ser) c.721A>T (p.Thr241Ser) c.547A>T (p.Thr183Ser) c.564A>T (p.Lys188Asn) |