UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136872099_136872103del | CA148202399 | PEX7 | c.748-99_748-95del (n.748-99_748-95del) c.*13-99_*13-95del (n.*13-99_*13-95del) c.436-99_436-95del c.634-99_634-95del (n.634-99_634-95del) c.753-99_753-95del (n.753-99_753-95del) c.628-99_628-95del (n.628-99_628-95del) c.454-99_454-95del (n.454-99_454-95del) c.526+25918_526+25922del (n.526+25918_526+25922del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872099C>A | CA2680490621 | PEX7 | c.748-99C>A (n.748-99C>A) c.*13-99C>A (n.*13-99C>A) c.436-99C>A c.634-99C>A (n.634-99C>A) c.753-99C>A (n.753-99C>A) c.628-99C>A (n.628-99C>A) c.454-99C>A (n.454-99C>A) c.526+25918C>A (n.526+25918C>A) | gnomAD v4 |
| 6 | g.136872099_136872101del | CA2497184229 | PEX7 | c.748-99_748-97del (n.748-99_748-97del) c.*13-99_*13-97del (n.*13-99_*13-97del) c.436-99_436-97del c.634-99_634-97del (n.634-99_634-97del) c.753-99_753-97del (n.753-99_753-97del) c.628-99_628-97del (n.628-99_628-97del) c.454-99_454-97del (n.454-99_454-97del) c.526+25918_526+25920del (n.526+25918_526+25920del) | dbSNP |
| 6 | g.136872101T>C | CA2578751817 | PEX7 | c.748-97T>C (n.748-97T>C) c.*13-97T>C (n.*13-97T>C) c.436-97T>C c.634-97T>C (n.634-97T>C) c.753-97T>C (n.753-97T>C) c.628-97T>C (n.628-97T>C) c.454-97T>C (n.454-97T>C) c.526+25920T>C (n.526+25920T>C) | |
| 6 | g.136872102A>T | CA2680490622 | PEX7 | c.748-96A>T (n.748-96A>T) c.*13-96A>T (n.*13-96A>T) c.436-96A>T c.634-96A>T (n.634-96A>T) c.753-96A>T (n.753-96A>T) c.628-96A>T (n.628-96A>T) c.454-96A>T (n.454-96A>T) c.526+25921A>T (n.526+25921A>T) | gnomAD v4 |
| 6 | g.136872109_136872113del | CA819535174 | PEX7 | c.748-89_748-85del (n.748-89_748-85del) c.*13-89_*13-85del (n.*13-89_*13-85del) c.436-89_436-85del c.634-89_634-85del (n.634-89_634-85del) c.753-89_753-85del (n.753-89_753-85del) c.628-89_628-85del (n.628-89_628-85del) c.454-89_454-85del (n.454-89_454-85del) c.526+25928_526+25932del (n.526+25928_526+25932del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872108A>G | CA148202400 | PEX7 | c.748-90A>G (n.748-90A>G) c.*13-90A>G (n.*13-90A>G) c.436-90A>G c.634-90A>G (n.634-90A>G) c.753-90A>G (n.753-90A>G) c.628-90A>G (n.628-90A>G) c.454-90A>G (n.454-90A>G) c.526+25927A>G (n.526+25927A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872108A>T | CA148202403 | PEX7 | c.748-90A>T (n.748-90A>T) c.*13-90A>T (n.*13-90A>T) c.436-90A>T c.634-90A>T (n.634-90A>T) c.753-90A>T (n.753-90A>T) c.628-90A>T (n.628-90A>T) c.454-90A>T (n.454-90A>T) c.526+25927A>T (n.526+25927A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872111A>G | CA148202407 | PEX7 | c.748-87A>G (n.748-87A>G) c.*13-87A>G (n.*13-87A>G) c.436-87A>G c.634-87A>G (n.634-87A>G) c.753-87A>G (n.753-87A>G) c.628-87A>G (n.628-87A>G) c.454-87A>G (n.454-87A>G) c.526+25930A>G (n.526+25930A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872113_136872115del | CA819535184 | PEX7 | c.748-85_748-83del (n.748-85_748-83del) c.*13-85_*13-83del (n.*13-85_*13-83del) c.436-85_436-83del c.634-85_634-83del (n.634-85_634-83del) c.753-85_753-83del (n.753-85_753-83del) c.628-85_628-83del (n.628-85_628-83del) c.454-85_454-83del (n.454-85_454-83del) c.526+25932_526+25934del (n.526+25932_526+25934del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872113A>G | CA2680490623 | PEX7 | c.748-85A>G (n.748-85A>G) c.*13-85A>G (n.*13-85A>G) c.436-85A>G c.634-85A>G (n.634-85A>G) c.753-85A>G (n.753-85A>G) c.628-85A>G (n.628-85A>G) c.454-85A>G (n.454-85A>G) c.526+25932A>G (n.526+25932A>G) | gnomAD v4 |
| 6 | g.136872114A>C | CA2680490624 | PEX7 | c.748-84A>C (n.748-84A>C) c.*13-84A>C (n.*13-84A>C) c.436-84A>C c.634-84A>C (n.634-84A>C) c.753-84A>C (n.753-84A>C) c.628-84A>C (n.628-84A>C) c.454-84A>C (n.454-84A>C) c.526+25933A>C (n.526+25933A>C) | gnomAD v4 |
| 6 | g.136872114A>G | CA2680490625 | PEX7 | c.748-84A>G (n.748-84A>G) c.*13-84A>G (n.*13-84A>G) c.436-84A>G c.634-84A>G (n.634-84A>G) c.753-84A>G (n.753-84A>G) c.628-84A>G (n.628-84A>G) c.454-84A>G (n.454-84A>G) c.526+25933A>G (n.526+25933A>G) | gnomAD v4 |
| 6 | g.136872115T>C | CA148202413 | PEX7 | c.748-83T>C (n.748-83T>C) c.*13-83T>C (n.*13-83T>C) c.436-83T>C c.634-83T>C (n.634-83T>C) c.753-83T>C (n.753-83T>C) c.628-83T>C (n.628-83T>C) c.454-83T>C (n.454-83T>C) c.526+25934T>C (n.526+25934T>C) | dbSNP |
| 6 | g.136872116G>A | CA2680490626 | PEX7 | c.748-82G>A (n.748-82G>A) c.*13-82G>A (n.*13-82G>A) c.436-82G>A c.634-82G>A (n.634-82G>A) c.753-82G>A (n.753-82G>A) c.628-82G>A (n.628-82G>A) c.454-82G>A (n.454-82G>A) c.526+25935G>A (n.526+25935G>A) | gnomAD v4 |
| 6 | g.136872119T>G | CA2773214557 | PEX7 | c.748-79T>G (n.748-79T>G) c.*13-79T>G (n.*13-79T>G) c.436-79T>G c.634-79T>G (n.634-79T>G) c.753-79T>G (n.753-79T>G) c.628-79T>G (n.628-79T>G) c.454-79T>G (n.454-79T>G) c.526+25938T>G (n.526+25938T>G) | |
| 6 | g.136872120A>G | CA2713185404 | PEX7 | c.748-78A>G (n.748-78A>G) c.*13-78A>G (n.*13-78A>G) c.436-78A>G c.634-78A>G (n.634-78A>G) c.753-78A>G (n.753-78A>G) c.628-78A>G (n.628-78A>G) c.454-78A>G (n.454-78A>G) c.526+25939A>G (n.526+25939A>G) | dbSNP |
| 6 | g.136872122G>A | CA2713185405 | PEX7 | c.748-76G>A (n.748-76G>A) c.*13-76G>A (n.*13-76G>A) c.436-76G>A c.634-76G>A (n.634-76G>A) c.753-76G>A (n.753-76G>A) c.628-76G>A (n.628-76G>A) c.454-76G>A (n.454-76G>A) c.526+25941G>A (n.526+25941G>A) | dbSNP |
| 6 | g.136872122G>T | CA2680490627 | PEX7 | c.748-76G>T (n.748-76G>T) c.*13-76G>T (n.*13-76G>T) c.436-76G>T c.634-76G>T (n.634-76G>T) c.753-76G>T (n.753-76G>T) c.628-76G>T (n.628-76G>T) c.454-76G>T (n.454-76G>T) c.526+25941G>T (n.526+25941G>T) | gnomAD v4 |
| 6 | g.136872123del | CA2578751818 | PEX7 | c.748-75del (n.748-75del) c.*13-75del (n.*13-75del) c.436-75del c.634-75del (n.634-75del) c.753-75del (n.753-75del) c.628-75del (n.628-75del) c.454-75del (n.454-75del) c.526+25942del (n.526+25942del) | |
| 6 | g.136872123G>T | CA2680490628 | PEX7 | c.748-75G>T (n.748-75G>T) c.*13-75G>T (n.*13-75G>T) c.436-75G>T c.634-75G>T (n.634-75G>T) c.753-75G>T (n.753-75G>T) c.628-75G>T (n.628-75G>T) c.454-75G>T (n.454-75G>T) c.526+25942G>T (n.526+25942G>T) | gnomAD v4 |
| 6 | g.136872125A>C | CA2680490629 | PEX7 | c.748-73A>C (n.748-73A>C) c.*13-73A>C (n.*13-73A>C) c.436-73A>C c.634-73A>C (n.634-73A>C) c.753-73A>C (n.753-73A>C) c.628-73A>C (n.628-73A>C) c.454-73A>C (n.454-73A>C) c.526+25944A>C (n.526+25944A>C) | gnomAD v4 |
| 6 | g.136872126T>A | CA2680490630 | PEX7 | c.748-72T>A (n.748-72T>A) c.*13-72T>A (n.*13-72T>A) c.436-72T>A c.634-72T>A (n.634-72T>A) c.753-72T>A (n.753-72T>A) c.628-72T>A (n.628-72T>A) c.454-72T>A (n.454-72T>A) c.526+25945T>A (n.526+25945T>A) | gnomAD v4 |
| 6 | g.136872127G>C | CA2680490631 | PEX7 | c.748-71G>C (n.748-71G>C) c.*13-71G>C (n.*13-71G>C) c.436-71G>C c.634-71G>C (n.634-71G>C) c.753-71G>C (n.753-71G>C) c.628-71G>C (n.628-71G>C) c.454-71G>C (n.454-71G>C) c.526+25946G>C (n.526+25946G>C) | gnomAD v4 |
| 6 | g.136872127G>T | CA2680490632 | PEX7 | c.748-71G>T (n.748-71G>T) c.*13-71G>T (n.*13-71G>T) c.436-71G>T c.634-71G>T (n.634-71G>T) c.753-71G>T (n.753-71G>T) c.628-71G>T (n.628-71G>T) c.454-71G>T (n.454-71G>T) c.526+25946G>T (n.526+25946G>T) | dbSNP gnomAD v4 |
| 6 | g.136872129T>A | CA2680490633 | PEX7 | c.748-69T>A (n.748-69T>A) c.*13-69T>A (n.*13-69T>A) c.436-69T>A c.634-69T>A (n.634-69T>A) c.753-69T>A (n.753-69T>A) c.628-69T>A (n.628-69T>A) c.454-69T>A (n.454-69T>A) c.526+25948T>A (n.526+25948T>A) | gnomAD v4 |
| 6 | g.136872129T>C | CA2680490634 | PEX7 | c.748-69T>C (n.748-69T>C) c.*13-69T>C (n.*13-69T>C) c.436-69T>C c.634-69T>C (n.634-69T>C) c.753-69T>C (n.753-69T>C) c.628-69T>C (n.628-69T>C) c.454-69T>C (n.454-69T>C) c.526+25948T>C (n.526+25948T>C) | gnomAD v4 |
| 6 | g.136872129T>G | CA148202420 | PEX7 | c.748-69T>G (n.748-69T>G) c.*13-69T>G (n.*13-69T>G) c.436-69T>G c.634-69T>G (n.634-69T>G) c.753-69T>G (n.753-69T>G) c.628-69T>G (n.628-69T>G) c.454-69T>G (n.454-69T>G) c.526+25948T>G (n.526+25948T>G) | dbSNP gnomAD v4 |
| 6 | g.136872130C>A | CA2680490635 | PEX7 | c.748-68C>A (n.748-68C>A) c.*13-68C>A (n.*13-68C>A) c.436-68C>A c.634-68C>A (n.634-68C>A) c.753-68C>A (n.753-68C>A) c.628-68C>A (n.628-68C>A) c.454-68C>A (n.454-68C>A) c.526+25949C>A (n.526+25949C>A) | gnomAD v4 |
| 6 | g.136872130C>T | CA2578751819 | PEX7 | c.748-68C>T (n.748-68C>T) c.*13-68C>T (n.*13-68C>T) c.436-68C>T c.634-68C>T (n.634-68C>T) c.753-68C>T (n.753-68C>T) c.628-68C>T (n.628-68C>T) c.454-68C>T (n.454-68C>T) c.526+25949C>T (n.526+25949C>T) | |
| 6 | g.136872131A>G | CA2680490636 | PEX7 | c.748-67A>G (n.748-67A>G) c.*13-67A>G (n.*13-67A>G) c.436-67A>G c.634-67A>G (n.634-67A>G) c.753-67A>G (n.753-67A>G) c.628-67A>G (n.628-67A>G) c.454-67A>G (n.454-67A>G) c.526+25950A>G (n.526+25950A>G) | gnomAD v4 |
| 6 | g.136872134_136872136del | CA2680490637 | PEX7 | c.748-64_748-62del (n.748-64_748-62del) c.*13-64_*13-62del (n.*13-64_*13-62del) c.436-64_436-62del c.634-64_634-62del (n.634-64_634-62del) c.753-64_753-62del (n.753-64_753-62del) c.628-64_628-62del (n.628-64_628-62del) c.454-64_454-62del (n.454-64_454-62del) c.526+25953_526+25955del (n.526+25953_526+25955del) | gnomAD v4 |
| 6 | g.136872134G>T | CA2680490638 | PEX7 | c.748-64G>T (n.748-64G>T) c.*13-64G>T (n.*13-64G>T) c.436-64G>T c.634-64G>T (n.634-64G>T) c.753-64G>T (n.753-64G>T) c.628-64G>T (n.628-64G>T) c.454-64G>T (n.454-64G>T) c.526+25953G>T (n.526+25953G>T) | gnomAD v4 |
| 6 | g.136872137dup | CA2680490639 | PEX7 | c.748-61dup (n.748-61dup) c.*13-61dup (n.*13-61dup) c.436-61dup c.634-61dup (n.634-61dup) c.753-61dup (n.753-61dup) c.628-61dup (n.628-61dup) c.454-61dup (n.454-61dup) c.526+25956dup (n.526+25956dup) | gnomAD v4 |
| 6 | g.136872136A>G | CA2680490640 | PEX7 | c.748-62A>G (n.748-62A>G) c.*13-62A>G (n.*13-62A>G) c.436-62A>G c.634-62A>G (n.634-62A>G) c.753-62A>G (n.753-62A>G) c.628-62A>G (n.628-62A>G) c.454-62A>G (n.454-62A>G) c.526+25955A>G (n.526+25955A>G) | gnomAD v4 |
| 6 | g.136872137A>G | CA2578751820 | PEX7 | c.748-61A>G (n.748-61A>G) c.*13-61A>G (n.*13-61A>G) c.436-61A>G c.634-61A>G (n.634-61A>G) c.753-61A>G (n.753-61A>G) c.628-61A>G (n.628-61A>G) c.454-61A>G (n.454-61A>G) c.526+25956A>G (n.526+25956A>G) | |
| 6 | g.136872138G>A | CA2680490641 | PEX7 | c.748-60G>A (n.748-60G>A) c.*13-60G>A (n.*13-60G>A) c.436-60G>A c.634-60G>A (n.634-60G>A) c.753-60G>A (n.753-60G>A) c.628-60G>A (n.628-60G>A) c.454-60G>A (n.454-60G>A) c.526+25957G>A (n.526+25957G>A) | gnomAD v4 |
| 6 | g.136872138G>T | CA2680490642 | PEX7 | c.748-60G>T (n.748-60G>T) c.*13-60G>T (n.*13-60G>T) c.436-60G>T c.634-60G>T (n.634-60G>T) c.753-60G>T (n.753-60G>T) c.628-60G>T (n.628-60G>T) c.454-60G>T (n.454-60G>T) c.526+25957G>T (n.526+25957G>T) | gnomAD v4 |
| 6 | g.136872139C>A | CA2578751821 | PEX7 | c.748-59C>A (n.748-59C>A) c.*13-59C>A (n.*13-59C>A) c.436-59C>A c.634-59C>A (n.634-59C>A) c.753-59C>A (n.753-59C>A) c.628-59C>A (n.628-59C>A) c.454-59C>A (n.454-59C>A) c.526+25958C>A (n.526+25958C>A) | gnomAD v4 |
| 6 | g.136872139C>T | CA2680490643 | PEX7 | c.748-59C>T (n.748-59C>T) c.*13-59C>T (n.*13-59C>T) c.436-59C>T c.634-59C>T (n.634-59C>T) c.753-59C>T (n.753-59C>T) c.628-59C>T (n.628-59C>T) c.454-59C>T (n.454-59C>T) c.526+25958C>T (n.526+25958C>T) | gnomAD v4 |
| 6 | g.136872140A>G | CA2680490644 | PEX7 | c.748-58A>G (n.748-58A>G) c.*13-58A>G (n.*13-58A>G) c.436-58A>G c.634-58A>G (n.634-58A>G) c.753-58A>G (n.753-58A>G) c.628-58A>G (n.628-58A>G) c.454-58A>G (n.454-58A>G) c.526+25959A>G (n.526+25959A>G) | gnomAD v4 |
| 6 | g.136872141G>T | CA2680490645 | PEX7 | c.748-57G>T (n.748-57G>T) c.*13-57G>T (n.*13-57G>T) c.436-57G>T c.634-57G>T (n.634-57G>T) c.753-57G>T (n.753-57G>T) c.628-57G>T (n.628-57G>T) c.454-57G>T (n.454-57G>T) c.526+25960G>T (n.526+25960G>T) | gnomAD v4 |
| 6 | g.136872143G>A | CA2680490646 | PEX7 | c.748-55G>A (n.748-55G>A) c.*13-55G>A (n.*13-55G>A) c.436-55G>A c.634-55G>A (n.634-55G>A) c.753-55G>A (n.753-55G>A) c.628-55G>A (n.628-55G>A) c.454-55G>A (n.454-55G>A) c.526+25962G>A (n.526+25962G>A) | gnomAD v4 |
| 6 | g.136872143G>T | CA1094890157 | PEX7 | c.748-55G>T (n.748-55G>T) c.*13-55G>T (n.*13-55G>T) c.436-55G>T c.634-55G>T (n.634-55G>T) c.753-55G>T (n.753-55G>T) c.628-55G>T (n.628-55G>T) c.454-55G>T (n.454-55G>T) c.526+25962G>T (n.526+25962G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872144T>C | CA1094890162 | PEX7 | c.748-54T>C (n.748-54T>C) c.*13-54T>C (n.*13-54T>C) c.436-54T>C c.634-54T>C (n.634-54T>C) c.753-54T>C (n.753-54T>C) c.628-54T>C (n.628-54T>C) c.454-54T>C (n.454-54T>C) c.526+25963T>C (n.526+25963T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872146A>G | CA2680490647 | PEX7 | c.748-52A>G (n.748-52A>G) c.*13-52A>G (n.*13-52A>G) c.436-52A>G c.634-52A>G (n.634-52A>G) c.753-52A>G (n.753-52A>G) c.628-52A>G (n.628-52A>G) c.454-52A>G (n.454-52A>G) c.526+25965A>G (n.526+25965A>G) | gnomAD v4 |
| 6 | g.136872146dup | CA2578751822 | PEX7 | c.748-52dup (n.748-52dup) c.*13-52dup (n.*13-52dup) c.436-52dup c.634-52dup (n.634-52dup) c.753-52dup (n.753-52dup) c.628-52dup (n.628-52dup) c.454-52dup (n.454-52dup) c.526+25965dup (n.526+25965dup) | gnomAD v4 |
| 6 | g.136872147T>A | CA4017730 | PEX7 | c.748-51T>A (n.748-51T>A) c.*13-51T>A (n.*13-51T>A) c.436-51T>A c.634-51T>A (n.634-51T>A) c.753-51T>A (n.753-51T>A) c.628-51T>A (n.628-51T>A) c.454-51T>A (n.454-51T>A) c.526+25966T>A (n.526+25966T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872147T>C | CA4017729 | PEX7 | c.748-51T>C (n.748-51T>C) c.*13-51T>C (n.*13-51T>C) c.436-51T>C c.634-51T>C (n.634-51T>C) c.753-51T>C (n.753-51T>C) c.628-51T>C (n.628-51T>C) c.454-51T>C (n.454-51T>C) c.526+25966T>C (n.526+25966T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872149del | CA2578751823 | PEX7 | c.748-49del (n.748-49del) c.*13-49del (n.*13-49del) c.436-49del c.634-49del (n.634-49del) c.753-49del (n.753-49del) c.628-49del (n.628-49del) c.454-49del (n.454-49del) c.526+25968del (n.526+25968del) | |
| 6 | g.136872149A>G | CA570574019 | PEX7 | c.748-49A>G (n.748-49A>G) c.*13-49A>G (n.*13-49A>G) c.436-49A>G c.634-49A>G (n.634-49A>G) c.753-49A>G (n.753-49A>G) c.628-49A>G (n.628-49A>G) c.454-49A>G (n.454-49A>G) c.526+25968A>G (n.526+25968A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872150T>C | CA2680490648 | PEX7 | c.748-48T>C (n.748-48T>C) c.*13-48T>C (n.*13-48T>C) c.436-48T>C c.634-48T>C (n.634-48T>C) c.753-48T>C (n.753-48T>C) c.628-48T>C (n.628-48T>C) c.454-48T>C (n.454-48T>C) c.526+25969T>C (n.526+25969T>C) | gnomAD v4 |
| 6 | g.136872151C>A | CA2680490649 | PEX7 | c.748-47C>A (n.748-47C>A) c.*13-47C>A (n.*13-47C>A) c.436-47C>A c.634-47C>A (n.634-47C>A) c.753-47C>A (n.753-47C>A) c.628-47C>A (n.628-47C>A) c.454-47C>A (n.454-47C>A) c.526+25970C>A (n.526+25970C>A) | gnomAD v4 |
| 6 | g.136872151C>T | CA2680490650 | PEX7 | c.748-47C>T (n.748-47C>T) c.*13-47C>T (n.*13-47C>T) c.436-47C>T c.634-47C>T (n.634-47C>T) c.753-47C>T (n.753-47C>T) c.628-47C>T (n.628-47C>T) c.454-47C>T (n.454-47C>T) c.526+25970C>T (n.526+25970C>T) | gnomAD v4 |
| 6 | g.136872152A>C | CA2680490651 | PEX7 | c.748-46A>C (n.748-46A>C) c.*13-46A>C (n.*13-46A>C) c.436-46A>C c.634-46A>C (n.634-46A>C) c.753-46A>C (n.753-46A>C) c.628-46A>C (n.628-46A>C) c.454-46A>C (n.454-46A>C) c.526+25971A>C (n.526+25971A>C) | gnomAD v4 |
| 6 | g.136872152A>G | CA570574021 | PEX7 | c.748-46A>G (n.748-46A>G) c.*13-46A>G (n.*13-46A>G) c.436-46A>G c.634-46A>G (n.634-46A>G) c.753-46A>G (n.753-46A>G) c.628-46A>G (n.628-46A>G) c.454-46A>G (n.454-46A>G) c.526+25971A>G (n.526+25971A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872153C>A | CA2680490653 | PEX7 | c.748-45C>A (n.748-45C>A) c.*13-45C>A (n.*13-45C>A) c.436-45C>A c.634-45C>A (n.634-45C>A) c.753-45C>A (n.753-45C>A) c.628-45C>A (n.628-45C>A) c.454-45C>A (n.454-45C>A) c.526+25972C>A (n.526+25972C>A) | gnomAD v4 |
| 6 | g.136872154_136872156del | CA2680490652 | PEX7 | c.748-44_748-42del (n.748-44_748-42del) c.*13-44_*13-42del (n.*13-44_*13-42del) c.436-44_436-42del c.634-44_634-42del (n.634-44_634-42del) c.753-44_753-42del (n.753-44_753-42del) c.628-44_628-42del (n.628-44_628-42del) c.454-44_454-42del (n.454-44_454-42del) c.526+25973_526+25975del (n.526+25973_526+25975del) | gnomAD v4 |
| 6 | g.136872154A>C | CA4017731 | PEX7 | c.748-44A>C (n.748-44A>C) c.*13-44A>C (n.*13-44A>C) c.436-44A>C c.634-44A>C (n.634-44A>C) c.753-44A>C (n.753-44A>C) c.628-44A>C (n.628-44A>C) c.454-44A>C (n.454-44A>C) c.526+25973A>C (n.526+25973A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872154A>G | CA2680490654 | PEX7 | c.748-44A>G (n.748-44A>G) c.*13-44A>G (n.*13-44A>G) c.436-44A>G c.634-44A>G (n.634-44A>G) c.753-44A>G (n.753-44A>G) c.628-44A>G (n.628-44A>G) c.454-44A>G (n.454-44A>G) c.526+25973A>G (n.526+25973A>G) | gnomAD v4 |
| 6 | g.136872155G>A | CA2680490655 | PEX7 | c.748-43G>A (n.748-43G>A) c.*13-43G>A (n.*13-43G>A) c.436-43G>A c.634-43G>A (n.634-43G>A) c.753-43G>A (n.753-43G>A) c.628-43G>A (n.628-43G>A) c.454-43G>A (n.454-43G>A) c.526+25974G>A (n.526+25974G>A) | gnomAD v4 |
| 6 | g.136872155G>T | CA2680490657 | PEX7 | c.748-43G>T (n.748-43G>T) c.*13-43G>T (n.*13-43G>T) c.436-43G>T c.634-43G>T (n.634-43G>T) c.753-43G>T (n.753-43G>T) c.628-43G>T (n.628-43G>T) c.454-43G>T (n.454-43G>T) c.526+25974G>T (n.526+25974G>T) | gnomAD v4 |
| 6 | g.136872156C>A | CA2578751824 | PEX7 | c.748-42C>A (n.748-42C>A) c.*13-42C>A (n.*13-42C>A) c.436-42C>A c.634-42C>A (n.634-42C>A) c.753-42C>A (n.753-42C>A) c.628-42C>A (n.628-42C>A) c.454-42C>A (n.454-42C>A) c.526+25975C>A (n.526+25975C>A) | gnomAD v4 |
| 6 | g.136872156C>T | CA2680490658 | PEX7 | c.748-42C>T (n.748-42C>T) c.*13-42C>T (n.*13-42C>T) c.436-42C>T c.634-42C>T (n.634-42C>T) c.753-42C>T (n.753-42C>T) c.628-42C>T (n.628-42C>T) c.454-42C>T (n.454-42C>T) c.526+25975C>T (n.526+25975C>T) | gnomAD v4 |
| 6 | g.136872157T>C | CA2680490659 | PEX7 | c.748-41T>C (n.748-41T>C) c.*13-41T>C (n.*13-41T>C) c.436-41T>C c.634-41T>C (n.634-41T>C) c.753-41T>C (n.753-41T>C) c.628-41T>C (n.628-41T>C) c.454-41T>C (n.454-41T>C) c.526+25976T>C (n.526+25976T>C) | dbSNP gnomAD v4 |
| 6 | g.136872158G>A | CA4017732 | PEX7 | c.748-40G>A (n.748-40G>A) c.*13-40G>A (n.*13-40G>A) c.436-40G>A c.634-40G>A (n.634-40G>A) c.753-40G>A (n.753-40G>A) c.628-40G>A (n.628-40G>A) c.454-40G>A (n.454-40G>A) c.526+25977G>A (n.526+25977G>A) | dbSNP ExAC gnomAD v2 |
| 6 | g.136872158G>T | CA2680490660 | PEX7 | c.748-40G>T (n.748-40G>T) c.*13-40G>T (n.*13-40G>T) c.436-40G>T c.634-40G>T (n.634-40G>T) c.753-40G>T (n.753-40G>T) c.628-40G>T (n.628-40G>T) c.454-40G>T (n.454-40G>T) c.526+25977G>T (n.526+25977G>T) | gnomAD v4 |
| 6 | g.136872159A>G | CA2680490662 | PEX7 | c.748-39A>G (n.748-39A>G) c.*13-39A>G (n.*13-39A>G) c.436-39A>G c.634-39A>G (n.634-39A>G) c.753-39A>G (n.753-39A>G) c.628-39A>G (n.628-39A>G) c.454-39A>G (n.454-39A>G) c.526+25978A>G (n.526+25978A>G) | gnomAD v4 |
| 6 | g.136872160C>A | CA2680490663 | PEX7 | c.748-38C>A (n.748-38C>A) c.*13-38C>A (n.*13-38C>A) c.436-38C>A c.634-38C>A (n.634-38C>A) c.753-38C>A (n.753-38C>A) c.628-38C>A (n.628-38C>A) c.454-38C>A (n.454-38C>A) c.526+25979C>A (n.526+25979C>A) | gnomAD v4 |
| 6 | g.136872160C>T | CA2713185406 | PEX7 | c.748-38C>T (n.748-38C>T) c.*13-38C>T (n.*13-38C>T) c.436-38C>T c.634-38C>T (n.634-38C>T) c.753-38C>T (n.753-38C>T) c.628-38C>T (n.628-38C>T) c.454-38C>T (n.454-38C>T) c.526+25979C>T (n.526+25979C>T) | dbSNP |
| 6 | g.136872161T>A | CA2578751825 | PEX7 | c.748-37T>A (n.748-37T>A) c.*13-37T>A (n.*13-37T>A) c.436-37T>A c.634-37T>A (n.634-37T>A) c.753-37T>A (n.753-37T>A) c.628-37T>A (n.628-37T>A) c.454-37T>A (n.454-37T>A) c.527-25981T>A (n.527-25981T>A) | |
| 6 | g.136872161T>C | CA2680490664 | PEX7 | c.748-37T>C (n.748-37T>C) c.*13-37T>C (n.*13-37T>C) c.436-37T>C c.634-37T>C (n.634-37T>C) c.753-37T>C (n.753-37T>C) c.628-37T>C (n.628-37T>C) c.454-37T>C (n.454-37T>C) c.527-25981T>C (n.527-25981T>C) | gnomAD v4 |
| 6 | g.136872162T>C | CA2680490665 | PEX7 | c.748-36T>C (n.748-36T>C) c.*13-36T>C (n.*13-36T>C) c.436-36T>C c.634-36T>C (n.634-36T>C) c.753-36T>C (n.753-36T>C) c.628-36T>C (n.628-36T>C) c.454-36T>C (n.454-36T>C) c.527-25980T>C (n.527-25980T>C) | gnomAD v4 |
| 6 | g.136872163C>A | CA819535201 | PEX7 | c.748-35C>A (n.748-35C>A) c.*13-35C>A (n.*13-35C>A) c.436-35C>A c.634-35C>A (n.634-35C>A) c.753-35C>A (n.753-35C>A) c.628-35C>A (n.628-35C>A) c.454-35C>A (n.454-35C>A) c.527-25979C>A (n.527-25979C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872163C>T | CA148202448 | PEX7 | c.748-35C>T (n.748-35C>T) c.*13-35C>T (n.*13-35C>T) c.436-35C>T c.634-35C>T (n.634-35C>T) c.753-35C>T (n.753-35C>T) c.628-35C>T (n.628-35C>T) c.454-35C>T (n.454-35C>T) c.527-25979C>T (n.527-25979C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872168del | CA2497184231 | PEX7 | c.748-30del (n.748-30del) c.*13-30del (n.*13-30del) c.436-30del c.634-30del (n.634-30del) c.753-30del (n.753-30del) c.628-30del (n.628-30del) c.454-30del (n.454-30del) c.527-25974del (n.527-25974del) | dbSNP gnomAD v4 |
| 6 | g.136872165A>G | CA2680490667 | PEX7 | c.748-33A>G (n.748-33A>G) c.*13-33A>G (n.*13-33A>G) c.436-33A>G c.634-33A>G (n.634-33A>G) c.753-33A>G (n.753-33A>G) c.628-33A>G (n.628-33A>G) c.454-33A>G (n.454-33A>G) c.527-25977A>G (n.527-25977A>G) | gnomAD v4 |
| 6 | g.136872166A>G | CA2578751826 | PEX7 | c.748-32A>G (n.748-32A>G) c.*13-32A>G (n.*13-32A>G) c.436-32A>G c.634-32A>G (n.634-32A>G) c.753-32A>G (n.753-32A>G) c.628-32A>G (n.628-32A>G) c.454-32A>G (n.454-32A>G) c.527-25976A>G (n.527-25976A>G) | dbSNP |
| 6 | g.136872168A>C | CA2578751827 | PEX7 | c.748-30A>C (n.748-30A>C) c.*13-30A>C (n.*13-30A>C) c.436-30A>C c.634-30A>C (n.634-30A>C) c.753-30A>C (n.753-30A>C) c.628-30A>C (n.628-30A>C) c.454-30A>C (n.454-30A>C) c.527-25974A>C (n.527-25974A>C) | |
| 6 | g.136872168A>G | CA2680490668 | PEX7 | c.748-30A>G (n.748-30A>G) c.*13-30A>G (n.*13-30A>G) c.436-30A>G c.634-30A>G (n.634-30A>G) c.753-30A>G (n.753-30A>G) c.628-30A>G (n.628-30A>G) c.454-30A>G (n.454-30A>G) c.527-25974A>G (n.527-25974A>G) | gnomAD v4 |
| 6 | g.136872168A>T | CA2680490669 | PEX7 | c.748-30A>T (n.748-30A>T) c.*13-30A>T (n.*13-30A>T) c.436-30A>T c.634-30A>T (n.634-30A>T) c.753-30A>T (n.753-30A>T) c.628-30A>T (n.628-30A>T) c.454-30A>T (n.454-30A>T) c.527-25974A>T (n.527-25974A>T) | gnomAD v4 |
| 6 | g.136872169G>A | CA4017734 | PEX7 | c.748-29G>A (n.748-29G>A) c.*13-29G>A (n.*13-29G>A) c.436-29G>A c.634-29G>A (n.634-29G>A) c.753-29G>A (n.753-29G>A) c.628-29G>A (n.628-29G>A) c.454-29G>A (n.454-29G>A) c.527-25973G>A (n.527-25973G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.136872169G>C | CA2680490670 | PEX7 | c.748-29G>C (n.748-29G>C) c.*13-29G>C (n.*13-29G>C) c.436-29G>C c.634-29G>C (n.634-29G>C) c.753-29G>C (n.753-29G>C) c.628-29G>C (n.628-29G>C) c.454-29G>C (n.454-29G>C) c.527-25973G>C (n.527-25973G>C) | gnomAD v4 |
| 6 | g.136872169G>T | CA2680490671 | PEX7 | c.748-29G>T (n.748-29G>T) c.*13-29G>T (n.*13-29G>T) c.436-29G>T c.634-29G>T (n.634-29G>T) c.753-29G>T (n.753-29G>T) c.628-29G>T (n.628-29G>T) c.454-29G>T (n.454-29G>T) c.527-25973G>T (n.527-25973G>T) | gnomAD v4 |
| 6 | g.136872171dup | CA4017733 | PEX7 | c.748-27dup (n.748-27dup) c.*13-27dup (n.*13-27dup) c.436-27dup c.634-27dup (n.634-27dup) c.753-27dup (n.753-27dup) c.628-27dup (n.628-27dup) c.454-27dup (n.454-27dup) c.527-25971dup (n.527-25971dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872170G>A | CA2534015750 | PEX7 | c.748-28G>A (n.748-28G>A) c.*13-28G>A (n.*13-28G>A) c.436-28G>A c.634-28G>A (n.634-28G>A) c.753-28G>A (n.753-28G>A) c.628-28G>A (n.628-28G>A) c.454-28G>A (n.454-28G>A) c.527-25972G>A (n.527-25972G>A) | dbSNP gnomAD v4 |
| 6 | g.136872170G>C | CA2578751828 | PEX7 | c.748-28G>C (n.748-28G>C) c.*13-28G>C (n.*13-28G>C) c.436-28G>C c.634-28G>C (n.634-28G>C) c.753-28G>C (n.753-28G>C) c.628-28G>C (n.628-28G>C) c.454-28G>C (n.454-28G>C) c.527-25972G>C (n.527-25972G>C) | |
| 6 | g.136872170G>T | CA4017735 | PEX7 | c.748-28G>T (n.748-28G>T) c.*13-28G>T (n.*13-28G>T) c.436-28G>T c.634-28G>T (n.634-28G>T) c.753-28G>T (n.753-28G>T) c.628-28G>T (n.628-28G>T) c.454-28G>T (n.454-28G>T) c.527-25972G>T (n.527-25972G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872170_136872171insT | CA2680490673 | PEX7 | c.748-28_748-27insT (n.748-28_748-27insT) c.*13-28_*13-27insT (n.*13-28_*13-27insT) c.436-28_436-27insT c.634-28_634-27insT (n.634-28_634-27insT) c.753-28_753-27insT (n.753-28_753-27insT) c.628-28_628-27insT (n.628-28_628-27insT) c.454-28_454-27insT (n.454-28_454-27insT) c.527-25972_527-25971insT (n.527-25972_527-25971insT) | gnomAD v4 |
| 6 | g.136872171G>T | CA819535209 | PEX7 | c.748-27G>T (n.748-27G>T) c.*13-27G>T (n.*13-27G>T) c.436-27G>T c.634-27G>T (n.634-27G>T) c.753-27G>T (n.753-27G>T) c.628-27G>T (n.628-27G>T) c.454-27G>T (n.454-27G>T) c.527-25971G>T (n.527-25971G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872171_136872172insGT | CA4017740 | PEX7 | c.748-27_748-26insGT (n.748-27_748-26insGT) c.*13-27_*13-26insGT (n.*13-27_*13-26insGT) c.436-27_436-26insGT c.634-27_634-26insGT (n.634-27_634-26insGT) c.753-27_753-26insGT (n.753-27_753-26insGT) c.628-27_628-26insGT (n.628-27_628-26insGT) c.454-27_454-26insGT (n.454-27_454-26insGT) c.527-25971_527-25970insGT (n.527-25971_527-25970insGT) | dbSNP ExAC gnomAD v2 |
| 6 | g.136872171_136872172insGTT | CA4017739 | PEX7 | c.748-27_748-26insGTT (n.748-27_748-26insGTT) c.*13-27_*13-26insGTT (n.*13-27_*13-26insGTT) c.436-27_436-26insGTT c.634-27_634-26insGTT (n.634-27_634-26insGTT) c.753-27_753-26insGTT (n.753-27_753-26insGTT) c.628-27_628-26insGTT (n.628-27_628-26insGTT) c.454-27_454-26insGTT (n.454-27_454-26insGTT) c.527-25971_527-25970insGTT (n.527-25971_527-25970insGTT) | dbSNP ExAC gnomAD v2 |
| 6 | g.136872171_136872172insGTTT | CA4017738 | PEX7 | c.748-27_748-26insGTTT (n.748-27_748-26insGTTT) c.*13-27_*13-26insGTTT (n.*13-27_*13-26insGTTT) c.436-27_436-26insGTTT c.634-27_634-26insGTTT (n.634-27_634-26insGTTT) c.753-27_753-26insGTTT (n.753-27_753-26insGTTT) c.628-27_628-26insGTTT (n.628-27_628-26insGTTT) c.454-27_454-26insGTTT (n.454-27_454-26insGTTT) c.527-25971_527-25970insGTTT (n.527-25971_527-25970insGTTT) | dbSNP ExAC |
| 6 | g.136872172T>A | CA2680490678 | PEX7 | c.748-26T>A (n.748-26T>A) c.*13-26T>A (n.*13-26T>A) c.436-26T>A c.634-26T>A (n.634-26T>A) c.753-26T>A (n.753-26T>A) c.628-26T>A (n.628-26T>A) c.454-26T>A (n.454-26T>A) c.527-25970T>A (n.527-25970T>A) | gnomAD v4 |
| 6 | g.136872172T>G | CA4017742 | PEX7 | c.748-26T>G (n.748-26T>G) c.*13-26T>G (n.*13-26T>G) c.436-26T>G c.634-26T>G (n.634-26T>G) c.753-26T>G (n.753-26T>G) c.628-26T>G (n.628-26T>G) c.454-26T>G (n.454-26T>G) c.527-25970T>G (n.527-25970T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872181_136872182insTTTTTTTTTTT | CA2680490680 | PEX7 | c.748-17_748-16insTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTT) | gnomAD v4 |
| 6 | g.136872181_136872182insTTTTTTTTTTTTTTT | CA2773214581 | PEX7 | c.748-17_748-16insTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTT) | |
| 6 | g.136872181_136872182insTTTTTTTTTTTTTTTTTT | CA2773214580 | PEX7 | c.748-17_748-16insTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTT) | |
| 6 | g.136872181_136872182insTTTTTTTTTTTTTTTTTTT | CA2680490679 | PEX7 | c.748-17_748-16insTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 6 | g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2680490686 | PEX7 | c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 6 | g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2497184237 | PEX7 | c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | dbSNP |
| 6 | g.136872181_136872182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2680490674 | PEX7 | c.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-17_748-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-17_*13-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.436-17_436-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-17_634-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-17_753-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-17_628-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-17_454-16insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25961_527-25960insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 6 | g.136872181dup | CA4017736 | PEX7 | c.748-17dup (n.748-17dup) c.*13-17dup (n.*13-17dup) c.436-17dup c.634-17dup (n.634-17dup) c.753-17dup (n.753-17dup) c.628-17dup (n.628-17dup) c.454-17dup (n.454-17dup) c.527-25961dup (n.527-25961dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872180_136872181dup | CA570574042 | PEX7 | c.748-18_748-17dup (n.748-18_748-17dup) c.*13-18_*13-17dup (n.*13-18_*13-17dup) c.436-18_436-17dup c.634-18_634-17dup (n.634-18_634-17dup) c.753-18_753-17dup (n.753-18_753-17dup) c.628-18_628-17dup (n.628-18_628-17dup) c.454-18_454-17dup (n.454-18_454-17dup) c.527-25962_527-25961dup (n.527-25962_527-25961dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872179_136872181dup | CA1094890188 | PEX7 | c.748-19_748-17dup (n.748-19_748-17dup) c.*13-19_*13-17dup (n.*13-19_*13-17dup) c.436-19_436-17dup c.634-19_634-17dup (n.634-19_634-17dup) c.753-19_753-17dup (n.753-19_753-17dup) c.628-19_628-17dup (n.628-19_628-17dup) c.454-19_454-17dup (n.454-19_454-17dup) c.527-25963_527-25961dup (n.527-25963_527-25961dup) | gnomAD v3 gnomAD v4 |
| 6 | g.136872178_136872181dup | CA2680490683 | PEX7 | c.748-20_748-17dup (n.748-20_748-17dup) c.*13-20_*13-17dup (n.*13-20_*13-17dup) c.436-20_436-17dup c.634-20_634-17dup (n.634-20_634-17dup) c.753-20_753-17dup (n.753-20_753-17dup) c.628-20_628-17dup (n.628-20_628-17dup) c.454-20_454-17dup (n.454-20_454-17dup) c.527-25964_527-25961dup (n.527-25964_527-25961dup) | gnomAD v4 |
| 6 | g.136872176_136872181dup | CA2680490682 | PEX7 | c.748-22_748-17dup (n.748-22_748-17dup) c.*13-22_*13-17dup (n.*13-22_*13-17dup) c.436-22_436-17dup c.634-22_634-17dup (n.634-22_634-17dup) c.753-22_753-17dup (n.753-22_753-17dup) c.628-22_628-17dup (n.628-22_628-17dup) c.454-22_454-17dup (n.454-22_454-17dup) c.527-25966_527-25961dup (n.527-25966_527-25961dup) | gnomAD v4 |
| 6 | g.136872175_136872181dup | CA1094890185 | PEX7 | c.748-23_748-17dup (n.748-23_748-17dup) c.*13-23_*13-17dup (n.*13-23_*13-17dup) c.436-23_436-17dup c.634-23_634-17dup (n.634-23_634-17dup) c.753-23_753-17dup (n.753-23_753-17dup) c.628-23_628-17dup (n.628-23_628-17dup) c.454-23_454-17dup (n.454-23_454-17dup) c.527-25967_527-25961dup (n.527-25967_527-25961dup) | gnomAD v3 gnomAD v4 |
| 6 | g.136872174_136872181dup | CA2773214585 | PEX7 | c.748-24_748-17dup (n.748-24_748-17dup) c.*13-24_*13-17dup (n.*13-24_*13-17dup) c.436-24_436-17dup c.634-24_634-17dup (n.634-24_634-17dup) c.753-24_753-17dup (n.753-24_753-17dup) c.628-24_628-17dup (n.628-24_628-17dup) c.454-24_454-17dup (n.454-24_454-17dup) c.527-25968_527-25961dup (n.527-25968_527-25961dup) | |
| 6 | g.136872173_136872181dup | CA2680490681 | PEX7 | c.748-25_748-17dup (n.748-25_748-17dup) c.*13-25_*13-17dup (n.*13-25_*13-17dup) c.436-25_436-17dup c.634-25_634-17dup (n.634-25_634-17dup) c.753-25_753-17dup (n.753-25_753-17dup) c.628-25_628-17dup (n.628-25_628-17dup) c.454-25_454-17dup (n.454-25_454-17dup) c.527-25969_527-25961dup (n.527-25969_527-25961dup) | gnomAD v4 |
| 6 | g.136872172_136872181dup | CA917869147 | PEX7 | c.748-26_748-17dup (n.748-26_748-17dup) c.*13-26_*13-17dup (n.*13-26_*13-17dup) c.436-26_436-17dup c.634-26_634-17dup (n.634-26_634-17dup) c.753-26_753-17dup (n.753-26_753-17dup) c.628-26_628-17dup (n.628-26_628-17dup) c.454-26_454-17dup (n.454-26_454-17dup) c.527-25970_527-25961dup (n.527-25970_527-25961dup) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872181del | CA4017737 | PEX7 | c.748-17del (n.748-17del) c.*13-17del (n.*13-17del) c.436-17del c.634-17del (n.634-17del) c.753-17del (n.753-17del) c.628-17del (n.628-17del) c.454-17del (n.454-17del) c.527-25961del (n.527-25961del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872180_136872181del | CA2680490676 | PEX7 | c.748-18_748-17del (n.748-18_748-17del) c.*13-18_*13-17del (n.*13-18_*13-17del) c.436-18_436-17del c.634-18_634-17del (n.634-18_634-17del) c.753-18_753-17del (n.753-18_753-17del) c.628-18_628-17del (n.628-18_628-17del) c.454-18_454-17del (n.454-18_454-17del) c.527-25962_527-25961del (n.527-25962_527-25961del) | gnomAD v4 |
| 6 | g.136872179_136872181del | CA819535242 | PEX7 | c.748-19_748-17del (n.748-19_748-17del) c.*13-19_*13-17del (n.*13-19_*13-17del) c.436-19_436-17del c.634-19_634-17del (n.634-19_634-17del) c.753-19_753-17del (n.753-19_753-17del) c.628-19_628-17del (n.628-19_628-17del) c.454-19_454-17del (n.454-19_454-17del) c.527-25963_527-25961del (n.527-25963_527-25961del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872178_136872181del | CA2680490677 | PEX7 | c.748-20_748-17del (n.748-20_748-17del) c.*13-20_*13-17del (n.*13-20_*13-17del) c.436-20_436-17del c.634-20_634-17del (n.634-20_634-17del) c.753-20_753-17del (n.753-20_753-17del) c.628-20_628-17del (n.628-20_628-17del) c.454-20_454-17del (n.454-20_454-17del) c.527-25964_527-25961del (n.527-25964_527-25961del) | dbSNP gnomAD v4 |
| 6 | g.136872182_136872192del | CA4017741 | PEX7 | c.748-16_748-6del (n.748-16_748-6del) c.*13-16_*13-6del (n.*13-16_*13-6del) c.436-16_436-6del c.634-16_634-6del (n.634-16_634-6del) c.753-16_753-6del (n.753-16_753-6del) c.628-16_628-6del (n.628-16_628-6del) c.454-16_454-6del (n.454-16_454-6del) c.527-25960_527-25950del (n.527-25960_527-25950del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872172_136872173insC | CA2680490688 | PEX7 | c.748-26_748-25insC (n.748-26_748-25insC) c.*13-26_*13-25insC (n.*13-26_*13-25insC) c.436-26_436-25insC c.634-26_634-25insC (n.634-26_634-25insC) c.753-26_753-25insC (n.753-26_753-25insC) c.628-26_628-25insC (n.628-26_628-25insC) c.454-26_454-25insC (n.454-26_454-25insC) c.527-25970_527-25969insC (n.527-25970_527-25969insC) | gnomAD v4 |
| 6 | g.136872173T>A | CA2578751840 | PEX7 | c.748-25T>A (n.748-25T>A) c.*13-25T>A (n.*13-25T>A) c.436-25T>A c.634-25T>A (n.634-25T>A) c.753-25T>A (n.753-25T>A) c.628-25T>A (n.628-25T>A) c.454-25T>A (n.454-25T>A) c.527-25969T>A (n.527-25969T>A) | gnomAD v4 |
| 6 | g.136872173T>C | CA2680490687 | PEX7 | c.748-25T>C (n.748-25T>C) c.*13-25T>C (n.*13-25T>C) c.436-25T>C c.634-25T>C (n.634-25T>C) c.753-25T>C (n.753-25T>C) c.628-25T>C (n.628-25T>C) c.454-25T>C (n.454-25T>C) c.527-25969T>C (n.527-25969T>C) | gnomAD v4 |
| 6 | g.136872174T>C | CA148202477 | PEX7 | c.748-24T>C (n.748-24T>C) c.*13-24T>C (n.*13-24T>C) c.436-24T>C c.634-24T>C (n.634-24T>C) c.753-24T>C (n.753-24T>C) c.628-24T>C (n.628-24T>C) c.454-24T>C (n.454-24T>C) c.527-25968T>C (n.527-25968T>C) | dbSNP |
| 6 | g.136872174T>G | CA2713128038 | PEX7 | c.748-24T>G (n.748-24T>G) c.*13-24T>G (n.*13-24T>G) c.436-24T>G c.634-24T>G (n.634-24T>G) c.753-24T>G (n.753-24T>G) c.628-24T>G (n.628-24T>G) c.454-24T>G (n.454-24T>G) c.527-25968T>G (n.527-25968T>G) | dbSNP |
| 6 | g.136872175T>C | CA570574043 | PEX7 | c.748-23T>C (n.748-23T>C) c.*13-23T>C (n.*13-23T>C) c.436-23T>C c.634-23T>C (n.634-23T>C) c.753-23T>C (n.753-23T>C) c.628-23T>C (n.628-23T>C) c.454-23T>C (n.454-23T>C) c.527-25967T>C (n.527-25967T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872176T>C | CA4017743 | PEX7 | c.748-22T>C (n.748-22T>C) c.*13-22T>C (n.*13-22T>C) c.436-22T>C c.634-22T>C (n.634-22T>C) c.753-22T>C (n.753-22T>C) c.628-22T>C (n.628-22T>C) c.454-22T>C (n.454-22T>C) c.527-25966T>C (n.527-25966T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872176T>G | CA2680490690 | PEX7 | c.748-22T>G (n.748-22T>G) c.*13-22T>G (n.*13-22T>G) c.436-22T>G c.634-22T>G (n.634-22T>G) c.753-22T>G (n.753-22T>G) c.628-22T>G (n.628-22T>G) c.454-22T>G (n.454-22T>G) c.527-25966T>G (n.527-25966T>G) | gnomAD v4 |
| 6 | g.136872177T>A | CA148202484 | PEX7 | c.748-21T>A (n.748-21T>A) c.*13-21T>A (n.*13-21T>A) c.436-21T>A c.634-21T>A (n.634-21T>A) c.753-21T>A (n.753-21T>A) c.628-21T>A (n.628-21T>A) c.454-21T>A (n.454-21T>A) c.527-25965T>A (n.527-25965T>A) | dbSNP gnomAD v4 |
| 6 | g.136872177T>C | CA2680490691 | PEX7 | c.748-21T>C (n.748-21T>C) c.*13-21T>C (n.*13-21T>C) c.436-21T>C c.634-21T>C (n.634-21T>C) c.753-21T>C (n.753-21T>C) c.628-21T>C (n.628-21T>C) c.454-21T>C (n.454-21T>C) c.527-25965T>C (n.527-25965T>C) | gnomAD v4 |
| 6 | g.136872178T>A | CA2680490692 | PEX7 | c.748-20T>A (n.748-20T>A) c.*13-20T>A (n.*13-20T>A) c.436-20T>A c.634-20T>A (n.634-20T>A) c.753-20T>A (n.753-20T>A) c.628-20T>A (n.628-20T>A) c.454-20T>A (n.454-20T>A) c.527-25964T>A (n.527-25964T>A) | gnomAD v4 |
| 6 | g.136872178T>C | CA2680490693 | PEX7 | c.748-20T>C (n.748-20T>C) c.*13-20T>C (n.*13-20T>C) c.436-20T>C c.634-20T>C (n.634-20T>C) c.753-20T>C (n.753-20T>C) c.628-20T>C (n.628-20T>C) c.454-20T>C (n.454-20T>C) c.527-25964T>C (n.527-25964T>C) | gnomAD v4 |
| 6 | g.136872179T>C | CA2680490695 | PEX7 | c.748-19T>C (n.748-19T>C) c.*13-19T>C (n.*13-19T>C) c.436-19T>C c.634-19T>C (n.634-19T>C) c.753-19T>C (n.753-19T>C) c.628-19T>C (n.628-19T>C) c.454-19T>C (n.454-19T>C) c.527-25963T>C (n.527-25963T>C) | gnomAD v4 |
| 6 | g.136872182_136872185del | CA2680490696 | PEX7 | c.748-16_748-13del (n.748-16_748-13del) c.*13-16_*13-13del (n.*13-16_*13-13del) c.436-16_436-13del c.634-16_634-13del (n.634-16_634-13del) c.753-16_753-13del (n.753-16_753-13del) c.628-16_628-13del (n.628-16_628-13del) c.454-16_454-13del (n.454-16_454-13del) c.527-25960_527-25957del (n.527-25960_527-25957del) | gnomAD v4 |
| 6 | g.136872179_136872180insC | CA2680490698 | PEX7 | c.748-19_748-18insC (n.748-19_748-18insC) c.*13-19_*13-18insC (n.*13-19_*13-18insC) c.436-19_436-18insC c.634-19_634-18insC (n.634-19_634-18insC) c.753-19_753-18insC (n.753-19_753-18insC) c.628-19_628-18insC (n.628-19_628-18insC) c.454-19_454-18insC (n.454-19_454-18insC) c.527-25963_527-25962insC (n.527-25963_527-25962insC) | gnomAD v4 |
| 6 | g.136872180T>C | CA2680490699 | PEX7 | c.748-18T>C (n.748-18T>C) c.*13-18T>C (n.*13-18T>C) c.436-18T>C c.634-18T>C (n.634-18T>C) c.753-18T>C (n.753-18T>C) c.628-18T>C (n.628-18T>C) c.454-18T>C (n.454-18T>C) c.527-25962T>C (n.527-25962T>C) | gnomAD v4 |
| 6 | g.136872180_136872181insCT | CA2680490700 | PEX7 | c.748-18_748-17insCT (n.748-18_748-17insCT) c.*13-18_*13-17insCT (n.*13-18_*13-17insCT) c.436-18_436-17insCT c.634-18_634-17insCT (n.634-18_634-17insCT) c.753-18_753-17insCT (n.753-18_753-17insCT) c.628-18_628-17insCT (n.628-18_628-17insCT) c.454-18_454-17insCT (n.454-18_454-17insCT) c.527-25962_527-25961insCT (n.527-25962_527-25961insCT) | gnomAD v4 |
| 6 | g.136872182_136872184del | CA2573140587 | PEX7 | c.748-16_748-14del (n.748-16_748-14del) c.*13-16_*13-14del (n.*13-16_*13-14del) c.436-16_436-14del c.634-16_634-14del (n.634-16_634-14del) c.753-16_753-14del (n.753-16_753-14del) c.628-16_628-14del (n.628-16_628-14del) c.454-16_454-14del (n.454-16_454-14del) c.527-25960_527-25958del (n.527-25960_527-25958del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872180_136872181insC | CA2680490701 | PEX7 | c.748-18_748-17insC (n.748-18_748-17insC) c.*13-18_*13-17insC (n.*13-18_*13-17insC) c.436-18_436-17insC c.634-18_634-17insC (n.634-18_634-17insC) c.753-18_753-17insC (n.753-18_753-17insC) c.628-18_628-17insC (n.628-18_628-17insC) c.454-18_454-17insC (n.454-18_454-17insC) c.527-25962_527-25961insC (n.527-25962_527-25961insC) | dbSNP gnomAD v4 |
| 6 | g.136872181T>A | CA2680490702 | PEX7 | c.748-17T>A (n.748-17T>A) c.*13-17T>A (n.*13-17T>A) c.436-17T>A c.634-17T>A (n.634-17T>A) c.753-17T>A (n.753-17T>A) c.628-17T>A (n.628-17T>A) c.454-17T>A (n.454-17T>A) c.527-25961T>A (n.527-25961T>A) | gnomAD v4 |
| 6 | g.136872181T>C | CA570574045 | PEX7 | c.748-17T>C (n.748-17T>C) c.*13-17T>C (n.*13-17T>C) c.436-17T>C c.634-17T>C (n.634-17T>C) c.753-17T>C (n.753-17T>C) c.628-17T>C (n.628-17T>C) c.454-17T>C (n.454-17T>C) c.527-25961T>C (n.527-25961T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136872182_136872183del | CA570574044 | PEX7 | c.748-16_748-15del (n.748-16_748-15del) c.*13-16_*13-15del (n.*13-16_*13-15del) c.436-16_436-15del c.634-16_634-15del (n.634-16_634-15del) c.753-16_753-15del (n.753-16_753-15del) c.628-16_628-15del (n.628-16_628-15del) c.454-16_454-15del (n.454-16_454-15del) c.527-25960_527-25959del (n.527-25960_527-25959del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872181_136872182insA | CA2773214597 | PEX7 | c.748-17_748-16insA (n.748-17_748-16insA) c.*13-17_*13-16insA (n.*13-17_*13-16insA) c.436-17_436-16insA c.634-17_634-16insA (n.634-17_634-16insA) c.753-17_753-16insA (n.753-17_753-16insA) c.628-17_628-16insA (n.628-17_628-16insA) c.454-17_454-16insA (n.454-17_454-16insA) c.527-25961_527-25960insA (n.527-25961_527-25960insA) | |
| 6 | g.136872181_136872182insTC | CA2578751852 | PEX7 | c.748-17_748-16insTC (n.748-17_748-16insTC) c.*13-17_*13-16insTC (n.*13-17_*13-16insTC) c.436-17_436-16insTC c.634-17_634-16insTC (n.634-17_634-16insTC) c.753-17_753-16insTC (n.753-17_753-16insTC) c.628-17_628-16insTC (n.628-17_628-16insTC) c.454-17_454-16insTC (n.454-17_454-16insTC) c.527-25961_527-25960insTC (n.527-25961_527-25960insTC) | |
| 6 | g.136872182del | CA452228766 | PEX7 | c.748-16del (n.748-16del) c.*13-16del (n.*13-16del) c.436-16del c.634-16del (n.634-16del) c.753-16del (n.753-16del) c.628-16del (n.628-16del) c.454-16del (n.454-16del) c.527-25960del (n.527-25960del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872182C>A | CA148202486 | PEX7 | c.748-16C>A (n.748-16C>A) c.*13-16C>A (n.*13-16C>A) c.436-16C>A c.634-16C>A (n.634-16C>A) c.753-16C>A (n.753-16C>A) c.628-16C>A (n.628-16C>A) c.454-16C>A (n.454-16C>A) c.527-25960C>A (n.527-25960C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872182C>G | CA2680490703 | PEX7 | c.748-16C>G (n.748-16C>G) c.*13-16C>G (n.*13-16C>G) c.436-16C>G c.634-16C>G (n.634-16C>G) c.753-16C>G (n.753-16C>G) c.628-16C>G (n.628-16C>G) c.454-16C>G (n.454-16C>G) c.527-25960C>G (n.527-25960C>G) | gnomAD v4 |
| 6 | g.136872182C>T | CA4017744 | PEX7 | c.748-16C>T (n.748-16C>T) c.*13-16C>T (n.*13-16C>T) c.436-16C>T c.634-16C>T (n.634-16C>T) c.753-16C>T (n.753-16C>T) c.628-16C>T (n.628-16C>T) c.454-16C>T (n.454-16C>T) c.527-25960C>T (n.527-25960C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.136872183T>C | CA148202514 | PEX7 | c.748-15T>C (n.748-15T>C) c.*13-15T>C (n.*13-15T>C) c.436-15T>C c.634-15T>C (n.634-15T>C) c.753-15T>C (n.753-15T>C) c.628-15T>C (n.628-15T>C) c.454-15T>C (n.454-15T>C) c.527-25959T>C (n.527-25959T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872193_136872194insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2680490705 | PEX7 | c.748-5_748-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.748-5_748-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.*13-5_*13-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-5_*13-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.436-5_436-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.634-5_634-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.634-5_634-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.753-5_753-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.753-5_753-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.628-5_628-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.628-5_628-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.454-5_454-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.454-5_454-4insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.527-25949_527-25948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25949_527-25948insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 6 | g.136872193_136872194insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT | CA2680490706 | PEX7 | c.748-5_748-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.748-5_748-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.*13-5_*13-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.*13-5_*13-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.436-5_436-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT c.634-5_634-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.634-5_634-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.753-5_753-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.753-5_753-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.628-5_628-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.628-5_628-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.454-5_454-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.454-5_454-4insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) c.527-25949_527-25948insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25949_527-25948insTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
| 6 | g.136872193dup | CA203568 | PEX7 | c.748-5dup (n.748-5dup) c.*13-5dup (n.*13-5dup) c.436-5dup c.634-5dup (n.634-5dup) c.753-5dup (n.753-5dup) c.628-5dup (n.628-5dup) c.454-5dup (n.454-5dup) c.527-25949dup (n.527-25949dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872192_136872193dup | CA148202508 | PEX7 | c.748-6_748-5dup (n.748-6_748-5dup) c.*13-6_*13-5dup (n.*13-6_*13-5dup) c.436-6_436-5dup c.634-6_634-5dup (n.634-6_634-5dup) c.753-6_753-5dup (n.753-6_753-5dup) c.628-6_628-5dup (n.628-6_628-5dup) c.454-6_454-5dup (n.454-6_454-5dup) c.527-25950_527-25949dup (n.527-25950_527-25949dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872191_136872193dup | CA2680490709 | PEX7 | c.748-7_748-5dup (n.748-7_748-5dup) c.*13-7_*13-5dup (n.*13-7_*13-5dup) c.436-7_436-5dup c.634-7_634-5dup (n.634-7_634-5dup) c.753-7_753-5dup (n.753-7_753-5dup) c.628-7_628-5dup (n.628-7_628-5dup) c.454-7_454-5dup (n.454-7_454-5dup) c.527-25951_527-25949dup (n.527-25951_527-25949dup) | gnomAD v4 |
| 6 | g.136872190_136872193dup | CA2680490707 | PEX7 | c.748-8_748-5dup (n.748-8_748-5dup) c.*13-8_*13-5dup (n.*13-8_*13-5dup) c.436-8_436-5dup c.634-8_634-5dup (n.634-8_634-5dup) c.753-8_753-5dup (n.753-8_753-5dup) c.628-8_628-5dup (n.628-8_628-5dup) c.454-8_454-5dup (n.454-8_454-5dup) c.527-25952_527-25949dup (n.527-25952_527-25949dup) | gnomAD v4 |
| 6 | g.136872193del | CA203569 | PEX7 | c.748-5del (n.748-5del) c.*13-5del (n.*13-5del) c.436-5del c.634-5del (n.634-5del) c.753-5del (n.753-5del) c.628-5del (n.628-5del) c.454-5del (n.454-5del) c.527-25949del (n.527-25949del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136872192_136872193del | CA4017745 | PEX7 | c.748-6_748-5del (n.748-6_748-5del) c.*13-6_*13-5del (n.*13-6_*13-5del) c.436-6_436-5del c.634-6_634-5del (n.634-6_634-5del) c.753-6_753-5del (n.753-6_753-5del) c.628-6_628-5del (n.628-6_628-5del) c.454-6_454-5del (n.454-6_454-5del) c.527-25950_527-25949del (n.527-25950_527-25949del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872191_136872193del | CA2680490704 | PEX7 | c.748-7_748-5del (n.748-7_748-5del) c.*13-7_*13-5del (n.*13-7_*13-5del) c.436-7_436-5del c.634-7_634-5del (n.634-7_634-5del) c.753-7_753-5del (n.753-7_753-5del) c.628-7_628-5del (n.628-7_628-5del) c.454-7_454-5del (n.454-7_454-5del) c.527-25951_527-25949del (n.527-25951_527-25949del) | gnomAD v4 |
| 6 | g.136872183_136872184insC | CA2680490711 | PEX7 | c.748-15_748-14insC (n.748-15_748-14insC) c.*13-15_*13-14insC (n.*13-15_*13-14insC) c.436-15_436-14insC c.634-15_634-14insC (n.634-15_634-14insC) c.753-15_753-14insC (n.753-15_753-14insC) c.628-15_628-14insC (n.628-15_628-14insC) c.454-15_454-14insC (n.454-15_454-14insC) c.527-25959_527-25958insC (n.527-25959_527-25958insC) | gnomAD v4 |
| 6 | g.136872184T>A | CA570574048 | PEX7 | c.748-14T>A (n.748-14T>A) c.*13-14T>A (n.*13-14T>A) c.436-14T>A c.634-14T>A (n.634-14T>A) c.753-14T>A (n.753-14T>A) c.628-14T>A (n.628-14T>A) c.454-14T>A (n.454-14T>A) c.527-25958T>A (n.527-25958T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872184T>C | CA651165053 | PEX7 | c.748-14T>C (n.748-14T>C) c.*13-14T>C (n.*13-14T>C) c.436-14T>C c.634-14T>C (n.634-14T>C) c.753-14T>C (n.753-14T>C) c.628-14T>C (n.628-14T>C) c.454-14T>C (n.454-14T>C) c.527-25958T>C (n.527-25958T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136872184_136872185insCT | CA2680490712 | PEX7 | c.748-14_748-13insCT (n.748-14_748-13insCT) c.*13-14_*13-13insCT (n.*13-14_*13-13insCT) c.436-14_436-13insCT c.634-14_634-13insCT (n.634-14_634-13insCT) c.753-14_753-13insCT (n.753-14_753-13insCT) c.628-14_628-13insCT (n.628-14_628-13insCT) c.454-14_454-13insCT (n.454-14_454-13insCT) c.527-25958_527-25957insCT (n.527-25958_527-25957insCT) | gnomAD v4 |
| 6 | g.136872185T>A | CA570574050 | PEX7 | c.748-13T>A (n.748-13T>A) c.*13-13T>A (n.*13-13T>A) c.436-13T>A c.634-13T>A (n.634-13T>A) c.753-13T>A (n.753-13T>A) c.628-13T>A (n.628-13T>A) c.454-13T>A (n.454-13T>A) c.527-25957T>A (n.527-25957T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872185T>C | CA4017746 | PEX7 | c.748-13T>C (n.748-13T>C) c.*13-13T>C (n.*13-13T>C) c.436-13T>C c.634-13T>C (n.634-13T>C) c.753-13T>C (n.753-13T>C) c.628-13T>C (n.628-13T>C) c.454-13T>C (n.454-13T>C) c.527-25957T>C (n.527-25957T>C) | ClinVar dbSNP ExAC |
| 6 | g.136872186T>C | CA2680490714 | PEX7 | c.748-12T>C (n.748-12T>C) c.*13-12T>C (n.*13-12T>C) c.436-12T>C c.634-12T>C (n.634-12T>C) c.753-12T>C (n.753-12T>C) c.628-12T>C (n.628-12T>C) c.454-12T>C (n.454-12T>C) c.527-25956T>C (n.527-25956T>C) | gnomAD v4 |
| 6 | g.136872187T>C | CA819535335 | PEX7 | c.748-11T>C (n.748-11T>C) c.*13-11T>C (n.*13-11T>C) c.436-11T>C c.634-11T>C (n.634-11T>C) c.753-11T>C (n.753-11T>C) c.628-11T>C (n.628-11T>C) c.454-11T>C (n.454-11T>C) c.527-25955T>C (n.527-25955T>C) | dbSNP |
| 6 | g.136872188T>C | CA10626108 | PEX7 | c.748-10T>C (n.748-10T>C) c.*13-10T>C (n.*13-10T>C) c.436-10T>C c.634-10T>C (n.634-10T>C) c.753-10T>C (n.753-10T>C) c.628-10T>C (n.628-10T>C) c.454-10T>C (n.454-10T>C) c.527-25954T>C (n.527-25954T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872189T>A | CA2713126010 | PEX7 | c.748-9T>A (n.748-9T>A) c.*13-9T>A (n.*13-9T>A) c.436-9T>A c.634-9T>A (n.634-9T>A) c.753-9T>A (n.753-9T>A) c.628-9T>A (n.628-9T>A) c.454-9T>A (n.454-9T>A) c.527-25953T>A (n.527-25953T>A) | dbSNP |
| 6 | g.136872189T>C | CA4017747 | PEX7 | c.748-9T>C (n.748-9T>C) c.*13-9T>C (n.*13-9T>C) c.436-9T>C c.634-9T>C (n.634-9T>C) c.753-9T>C (n.753-9T>C) c.628-9T>C (n.628-9T>C) c.454-9T>C (n.454-9T>C) c.527-25953T>C (n.527-25953T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872189_136872190insC | CA1094890223 | PEX7 | c.748-9_748-8insC (n.748-9_748-8insC) c.*13-9_*13-8insC (n.*13-9_*13-8insC) c.436-9_436-8insC c.634-9_634-8insC (n.634-9_634-8insC) c.753-9_753-8insC (n.753-9_753-8insC) c.628-9_628-8insC (n.628-9_628-8insC) c.454-9_454-8insC (n.454-9_454-8insC) c.527-25953_527-25952insC (n.527-25953_527-25952insC) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872190T>A | CA2713185408 | PEX7 | c.748-8T>A (n.748-8T>A) c.*13-8T>A (n.*13-8T>A) c.436-8T>A c.634-8T>A (n.634-8T>A) c.753-8T>A (n.753-8T>A) c.628-8T>A (n.628-8T>A) c.454-8T>A (n.454-8T>A) c.527-25952T>A (n.527-25952T>A) | dbSNP |
| 6 | g.136872192T>C | CA2680490715 | PEX7 | c.748-6T>C (n.748-6T>C) c.*13-6T>C (n.*13-6T>C) c.436-6T>C c.634-6T>C (n.634-6T>C) c.753-6T>C (n.753-6T>C) c.628-6T>C (n.628-6T>C) c.454-6T>C (n.454-6T>C) c.527-25950T>C (n.527-25950T>C) | gnomAD v4 |
| 6 | g.136872192T>G | CA2580075144 | PEX7 | c.748-6T>G (n.748-6T>G) c.*13-6T>G (n.*13-6T>G) c.436-6T>G c.634-6T>G (n.634-6T>G) c.753-6T>G (n.753-6T>G) c.628-6T>G (n.628-6T>G) c.454-6T>G (n.454-6T>G) c.527-25950T>G (n.527-25950T>G) | ClinVar |
| 6 | g.136872193T>C | CA2680490716 | PEX7 | c.748-5T>C (n.748-5T>C) c.*13-5T>C (n.*13-5T>C) c.436-5T>C c.634-5T>C (n.634-5T>C) c.753-5T>C (n.753-5T>C) c.628-5T>C (n.628-5T>C) c.454-5T>C (n.454-5T>C) c.527-25949T>C (n.527-25949T>C) | gnomAD v4 |
| 6 | g.136872193T>G | CA4017749 | PEX7 | c.748-5T>G (n.748-5T>G) c.*13-5T>G (n.*13-5T>G) c.436-5T>G c.634-5T>G (n.634-5T>G) c.753-5T>G (n.753-5T>G) c.628-5T>G (n.628-5T>G) c.454-5T>G (n.454-5T>G) c.527-25949T>G (n.527-25949T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872194_136872198del | CA2773214621 | PEX7 | c.748-4_748del c.*13-4_*13del c.436-4_436del c.634-4_634del c.753-4_753del c.628-4_628del c.454-4_454del c.527-25948_527-25944del (n.527-25948_527-25944del) | |
| 6 | g.136872194del | CA570574054 | PEX7 | c.748-4del (n.748-4del) c.*13-4del (n.*13-4del) c.436-4del c.634-4del (n.634-4del) c.753-4del (n.753-4del) c.628-4del (n.628-4del) c.454-4del (n.454-4del) c.527-25948del (n.527-25948del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872194G>A | CA2680490718 | PEX7 | c.748-4G>A (n.748-4G>A) c.*13-4G>A (n.*13-4G>A) c.436-4G>A c.634-4G>A (n.634-4G>A) c.753-4G>A (n.753-4G>A) c.628-4G>A (n.628-4G>A) c.454-4G>A (n.454-4G>A) c.527-25948G>A (n.527-25948G>A) | gnomAD v4 |
| 6 | g.136872194G>C | CA2680490719 | PEX7 | c.748-4G>C (n.748-4G>C) c.*13-4G>C (n.*13-4G>C) c.436-4G>C c.634-4G>C (n.634-4G>C) c.753-4G>C (n.753-4G>C) c.628-4G>C (n.628-4G>C) c.454-4G>C (n.454-4G>C) c.527-25948G>C (n.527-25948G>C) | gnomAD v4 |
| 6 | g.136872194G>T | CA4017750 | PEX7 | c.748-4G>T (n.748-4G>T) c.*13-4G>T (n.*13-4G>T) c.436-4G>T c.634-4G>T (n.634-4G>T) c.753-4G>T (n.753-4G>T) c.628-4G>T (n.628-4G>T) c.454-4G>T (n.454-4G>T) c.527-25948G>T (n.527-25948G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872194_136872197del | CA4017748 | PEX7 | c.748-4_748-1del (n.748-4_748-1del) c.*13-4_*13-1del (n.*13-4_*13-1del) c.436-4_436-1del c.634-4_634-1del (n.634-4_634-1del) c.753-4_753-1del (n.753-4_753-1del) c.628-4_628-1del (n.628-4_628-1del) c.454-4_454-1del (n.454-4_454-1del) c.527-25948_527-25945del (n.527-25948_527-25945del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872195T>C | CA2680490720 | PEX7 | c.748-3T>C (n.748-3T>C) c.*13-3T>C (n.*13-3T>C) c.436-3T>C c.634-3T>C (n.634-3T>C) c.753-3T>C (n.753-3T>C) c.628-3T>C (n.628-3T>C) c.454-3T>C (n.454-3T>C) c.527-25947T>C (n.527-25947T>C) | gnomAD v4 |
| 6 | g.136872196A>C | CA365764379 | PEX7 | c.748-2A>C (n.748-2A>C) c.*13-2A>C (n.*13-2A>C) c.436-2A>C c.634-2A>C (n.634-2A>C) c.753-2A>C (n.753-2A>C) c.628-2A>C (n.628-2A>C) c.454-2A>C (n.454-2A>C) c.527-25946A>C (n.527-25946A>C) | |
| 6 | g.136872196A>G | CA16041019 | PEX7 | c.748-2A>G (n.748-2A>G) c.*13-2A>G (n.*13-2A>G) c.436-2A>G c.634-2A>G (n.634-2A>G) c.753-2A>G (n.753-2A>G) c.628-2A>G (n.628-2A>G) c.454-2A>G (n.454-2A>G) c.527-25946A>G (n.527-25946A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872196A>T | CA4017752 | PEX7 | c.748-2A>T (n.748-2A>T) c.*13-2A>T (n.*13-2A>T) c.436-2A>T c.634-2A>T (n.634-2A>T) c.753-2A>T (n.753-2A>T) c.628-2A>T (n.628-2A>T) c.454-2A>T (n.454-2A>T) c.527-25946A>T (n.527-25946A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872196_136872197del | CA4017751 | PEX7 | c.748-2_748-1del (n.748-2_748-1del) c.*13-2_*13-1del (n.*13-2_*13-1del) c.436-2_436-1del c.634-2_634-1del (n.634-2_634-1del) c.753-2_753-1del (n.753-2_753-1del) c.628-2_628-1del (n.628-2_628-1del) c.454-2_454-1del (n.454-2_454-1del) c.527-25946_527-25945del (n.527-25946_527-25945del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872197G>A | CA365764380 | PEX7 | c.748-1G>A (n.748-1G>A) c.*13-1G>A (n.*13-1G>A) c.436-1G>A c.634-1G>A (n.634-1G>A) c.753-1G>A (n.753-1G>A) c.628-1G>A (n.628-1G>A) c.454-1G>A (n.454-1G>A) c.527-25945G>A (n.527-25945G>A) | |
| 6 | g.136872197G>C | CA365764381 | PEX7 | c.748-1G>C (n.748-1G>C) c.*13-1G>C (n.*13-1G>C) c.436-1G>C c.634-1G>C (n.634-1G>C) c.753-1G>C (n.753-1G>C) c.628-1G>C (n.628-1G>C) c.454-1G>C (n.454-1G>C) c.527-25945G>C (n.527-25945G>C) | |
| 6 | g.136872197G>T | CA4017753 | PEX7 | c.748-1G>T (n.748-1G>T) c.*13-1G>T (n.*13-1G>T) c.436-1G>T c.634-1G>T (n.634-1G>T) c.753-1G>T (n.753-1G>T) c.628-1G>T (n.628-1G>T) c.454-1G>T (n.454-1G>T) c.527-25945G>T (n.527-25945G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872198T>A | CA365764382 | PEX7 | c.748T>A (p.Phe250Ile) c.*13T>A (n.*13T>A) c.436T>A c.634T>A (p.Phe212Ile) c.753T>A (n.753T>A) c.628T>A (p.Phe210Ile) c.454T>A (p.Phe152Ile) c.527-25944T>A (n.527-25944T>A) | |
| 6 | g.136872198T>C | CA365764383 | PEX7 | c.748T>C (p.Phe250Leu) c.*13T>C (n.*13T>C) c.436T>C c.634T>C (p.Phe212Leu) c.753T>C (n.753T>C) c.628T>C (p.Phe210Leu) c.454T>C (p.Phe152Leu) c.527-25944T>C (n.527-25944T>C) | |
| 6 | g.136872198T>G | CA365764384 | PEX7 | c.748T>G (p.Phe250Val) c.*13T>G (n.*13T>G) c.436T>G c.634T>G (p.Phe212Val) c.753T>G (n.753T>G) c.628T>G (p.Phe210Val) c.454T>G (p.Phe152Val) c.527-25944T>G (n.527-25944T>G) | |
| 6 | g.136872201_136872202insTTTTTTT | CA2740791991 | PEX7 | c.751_752insTTTTTTT (p.Ser251PhefsTer16) c.*16_*17insTTTTTTT (n.*16_*17insTTTTTTT) c.439_440insTTTTTTT c.637_638insTTTTTTT (p.Ser213PhefsTer16) c.756_757insTTTTTTT (n.756_757insTTTTTTT) c.631_632insTTTTTTT (p.Ser211PhefsTer16) c.457_458insTTTTTTT (p.Ser153PhefsTer16) c.527-25941_527-25940insTTTTTTT (n.527-25941_527-25940insTTTTTTT) | |
| 6 | g.136872201_136872202insTTTTTTTTT | CA2604515750 | PEX7 | c.751_752insTTTTTTTTT (p.Phe250_Ser251insPhePhePhe) c.*16_*17insTTTTTTTTT (n.*16_*17insTTTTTTTTT) c.439_440insTTTTTTTTT c.637_638insTTTTTTTTT (p.Phe212_Ser213insPhePhePhe) c.756_757insTTTTTTTTT (n.756_757insTTTTTTTTT) c.631_632insTTTTTTTTT (p.Phe210_Ser211insPhePhePhe) c.457_458insTTTTTTTTT (p.Phe152_Ser153insPhePhePhe) c.527-25941_527-25940insTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTT | CA570574060 | PEX7 | c.751_752insTTTTTTTTTT (p.Ser251PhefsTer17) c.*16_*17insTTTTTTTTTT (n.*16_*17insTTTTTTTTTT) c.439_440insTTTTTTTTTT c.637_638insTTTTTTTTTT (p.Ser213PhefsTer17) c.756_757insTTTTTTTTTT (n.756_757insTTTTTTTTTT) c.631_632insTTTTTTTTTT (p.Ser211PhefsTer17) c.457_458insTTTTTTTTTT (p.Ser153PhefsTer17) c.527-25941_527-25940insTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTT | CA570574061 | PEX7 | c.751_752insTTTTTTTTTTT (p.Ser251PhefsTer21) c.*16_*17insTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTT) c.439_440insTTTTTTTTTTT c.637_638insTTTTTTTTTTT (p.Ser213PhefsTer21) c.756_757insTTTTTTTTTTT (n.756_757insTTTTTTTTTTT) c.631_632insTTTTTTTTTTT (p.Ser211PhefsTer21) c.457_458insTTTTTTTTTTT (p.Ser153PhefsTer21) c.527-25941_527-25940insTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTT | CA570574063 | PEX7 | c.751_752insTTTTTTTTTTTTT (p.Ser251PhefsTer18) c.*16_*17insTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTT (p.Ser213PhefsTer18) c.756_757insTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTT (p.Ser211PhefsTer18) c.457_458insTTTTTTTTTTTTT (p.Ser153PhefsTer18) c.527-25941_527-25940insTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTT | CA1094890236 | PEX7 | c.751_752insTTTTTTTTTTTTTTT (p.Phe250_Ser251insPhePhePhePhePhe) c.*16_*17insTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTT (p.Phe212_Ser213insPhePhePhePhePhe) c.756_757insTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTT (p.Phe210_Ser211insPhePhePhePhePhe) c.457_458insTTTTTTTTTTTTTTT (p.Phe152_Ser153insPhePhePhePhePhe) c.527-25941_527-25940insTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTT | CA570574064 | PEX7 | c.751_752insTTTTTTTTTTTTTTTT (p.Ser251PhefsTer19) c.*16_*17insTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTT (p.Ser213PhefsTer19) c.756_757insTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTT (p.Ser211PhefsTer19) c.457_458insTTTTTTTTTTTTTTTT (p.Ser153PhefsTer19) c.527-25941_527-25940insTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTT) | gnomAD v2 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTTT | CA1094890238 | PEX7 | c.751_752insTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer23) c.*16_*17insTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer23) c.756_757insTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer23) c.457_458insTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer23) c.527-25941_527-25940insTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTTTTT | CA1094890239 | PEX7 | c.751_752insTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer20) c.*16_*17insTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer20) c.756_757insTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer20) c.457_458insTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer20) c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTTTTTT | CA2773214635 | PEX7 | c.751_752insTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer24) c.*16_*17insTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer24) c.756_757insTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer24) c.457_458insTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer24) c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTT) | |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTT | CA1094890240 | PEX7 | c.751_752insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe250_Ser251insPhePhePhePhePhePhePhePhe) c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe212_Ser213insPhePhePhePhePhePhePhePhe) c.756_757insTTTTTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe210_Ser211insPhePhePhePhePhePhePhePhe) c.457_458insTTTTTTTTTTTTTTTTTTTTTTTT (p.Phe152_Ser153insPhePhePhePhePhePhePhePhe) c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTT | CA1094890241 | PEX7 | c.751_752insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer22) c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer22) c.756_757insTTTTTTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer22) c.457_458insTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer22) c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201_136872202insTTTTTTTTTTTTTTTTTTTTTTTTTT | CA1094890242 | PEX7 | c.751_752insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser251PhefsTer26) c.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.*16_*17insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.439_440insTTTTTTTTTTTTTTTTTTTTTTTTTT c.637_638insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser213PhefsTer26) c.756_757insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.756_757insTTTTTTTTTTTTTTTTTTTTTTTTTT) c.631_632insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser211PhefsTer26) c.457_458insTTTTTTTTTTTTTTTTTTTTTTTTTT (p.Ser153PhefsTer26) c.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTTT (n.527-25941_527-25940insTTTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
| 6 | g.136872201dup | CA2739266181 | PEX7 | c.751dup (p.Ser251PhefsTer14) c.*16dup (n.*16dup) c.439dup c.637dup (p.Ser213PhefsTer14) c.756dup (n.756dup) c.631dup (p.Ser211PhefsTer14) c.457dup (p.Ser153PhefsTer14) c.527-25941dup (n.527-25941dup) | ClinVar |
| 6 | g.136872199_136872201dup | CA1094890234 | PEX7 | c.749_751dup (p.Phe250_Ser251insPhe) c.*14_*16dup (n.*14_*16dup) c.437_439dup c.635_637dup (p.Phe212_Ser213insPhe) c.754_756dup (n.754_756dup) c.629_631dup (p.Phe210_Ser211insPhe) c.455_457dup (p.Phe152_Ser153insPhe) c.527-25943_527-25941dup (n.527-25943_527-25941dup) | gnomAD v3 gnomAD v4 |
| 6 | g.136872199T>A | CA365764385 | PEX7 | c.749T>A (p.Phe250Tyr) c.*14T>A (n.*14T>A) c.437T>A c.635T>A (p.Phe212Tyr) c.754T>A (n.754T>A) c.629T>A (p.Phe210Tyr) c.455T>A (p.Phe152Tyr) c.527-25943T>A (n.527-25943T>A) | |
| 6 | g.136872199T>C | CA365764386 | PEX7 | c.749T>C (p.Phe250Ser) c.*14T>C (n.*14T>C) c.437T>C c.635T>C (p.Phe212Ser) c.754T>C (n.754T>C) c.629T>C (p.Phe210Ser) c.455T>C (p.Phe152Ser) c.527-25943T>C (n.527-25943T>C) | |
| 6 | g.136872199T>G | CA365764387 | PEX7 | c.749T>G (p.Phe250Cys) c.*14T>G (n.*14T>G) c.437T>G c.635T>G (p.Phe212Cys) c.754T>G (n.754T>G) c.629T>G (p.Phe210Cys) c.455T>G (p.Phe152Cys) c.527-25943T>G (n.527-25943T>G) |