| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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_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_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) | |
| 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) | |
| 6 | g.136872200T>A | CA365764388 | PEX7 | c.750T>A (p.Phe250Leu) c.*15T>A (n.*15T>A) c.438T>A c.636T>A (p.Phe212Leu) c.755T>A (n.755T>A) c.630T>A (p.Phe210Leu) c.456T>A (p.Phe152Leu) c.527-25942T>A (n.527-25942T>A) | |
| 6 | g.136872200T>C | CA452228768 | PEX7 | c.750T>C (p.Phe250=) c.*15T>C (n.*15T>C) c.438T>C c.636T>C (p.Phe212=) c.755T>C (n.755T>C) c.630T>C (p.Phe210=) c.456T>C (p.Phe152=) c.527-25942T>C (n.527-25942T>C) | gnomAD v4 |
| 6 | g.136872200T>G | CA365764389 | PEX7 | c.750T>G (p.Phe250Leu) c.*15T>G (n.*15T>G) c.438T>G c.636T>G (p.Phe212Leu) c.755T>G (n.755T>G) c.630T>G (p.Phe210Leu) c.456T>G (p.Phe152Leu) c.527-25942T>G (n.527-25942T>G) | |
| 6 | g.136872201T>A | CA365764392 | PEX7 | c.751T>A (p.Ser251Thr) c.*16T>A (n.*16T>A) c.439T>A c.637T>A (p.Ser213Thr) c.756T>A (n.756T>A) c.631T>A (p.Ser211Thr) c.457T>A (p.Ser153Thr) c.527-25941T>A (n.527-25941T>A) | gnomAD v4 |
| 6 | g.136872201T>C | CA365764390 | PEX7 | c.751T>C (p.Ser251Pro) c.*16T>C (n.*16T>C) c.439T>C c.637T>C (p.Ser213Pro) c.756T>C (n.756T>C) c.631T>C (p.Ser211Pro) c.457T>C (p.Ser153Pro) c.527-25941T>C (n.527-25941T>C) | gnomAD v4 |
| 6 | g.136872201T>G | CA365764391 | PEX7 | c.751T>G (p.Ser251Ala) c.*16T>G (n.*16T>G) c.439T>G c.637T>G (p.Ser213Ala) c.756T>G (n.756T>G) c.631T>G (p.Ser211Ala) c.457T>G (p.Ser153Ala) c.527-25941T>G (n.527-25941T>G) | |
| 6 | g.136872202C>A | CA365764393 | PEX7 | c.752C>A (p.Ser251Ter) c.*17C>A (n.*17C>A) c.440C>A c.638C>A (p.Ser213Ter) c.757C>A (n.757C>A) c.632C>A (p.Ser211Ter) c.458C>A (p.Ser153Ter) c.527-25940C>A (n.527-25940C>A) | dbSNP gnomAD v4 |
| 6 | g.136872202C>G | CA365764394 | PEX7 | c.752C>G (p.Ser251Ter) c.*17C>G (n.*17C>G) c.440C>G c.638C>G (p.Ser213Ter) c.757C>G (n.757C>G) c.632C>G (p.Ser211Ter) c.458C>G (p.Ser153Ter) c.527-25940C>G (n.527-25940C>G) | |
| 6 | g.136872202C>T | CA365764395 | PEX7 | c.752C>T (p.Ser251Leu) c.*17C>T (n.*17C>T) c.440C>T c.638C>T (p.Ser213Leu) c.757C>T (n.757C>T) c.632C>T (p.Ser211Leu) c.458C>T (p.Ser153Leu) c.527-25940C>T (n.527-25940C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872202_136872205del | CA570574070 | PEX7 | c.752_755del (p.Ser251TyrfsTer16) c.*17_*20del (n.*17_*20del) c.440_443del c.638_641del (p.Ser213TyrfsTer16) c.757_760del (n.757_760del) c.632_635del (p.Ser211TyrfsTer16) c.458_461del (p.Ser153TyrfsTer16) c.527-25940_527-25937del (n.527-25940_527-25937del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872202_136872206del | CA570574068 | PEX7 | c.752_756del (p.Ser251PhefsTer12) c.*17_*21del (n.*17_*21del) c.440_444del c.638_642del (p.Ser213PhefsTer12) c.757_761del (n.757_761del) c.632_636del (p.Ser211PhefsTer12) c.458_462del (p.Ser153PhefsTer12) c.527-25940_527-25936del (n.527-25940_527-25936del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872204_136872206del | CA1094890247 | PEX7 | c.754_756del (p.Pro252del) c.*19_*21del (n.*19_*21del) c.442_444del c.640_642del (p.Pro214del) c.759_761del (n.759_761del) c.634_636del (p.Pro212del) c.460_462del (p.Pro154del) c.527-25938_527-25936del (n.527-25938_527-25936del) | gnomAD v3 gnomAD v4 |
| 6 | g.136872203A>C | CA452228769 | PEX7 | c.753A>C (p.Ser251=) c.*18A>C (n.*18A>C) c.441A>C c.639A>C (p.Ser213=) c.758A>C (n.758A>C) c.633A>C (p.Ser211=) c.459A>C (p.Ser153=) c.527-25939A>C (n.527-25939A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872203A>G | CA452228771 | PEX7 | c.753A>G (p.Ser251=) c.*18A>G (n.*18A>G) c.441A>G c.639A>G (p.Ser213=) c.758A>G (n.758A>G) c.633A>G (p.Ser211=) c.459A>G (p.Ser153=) c.527-25939A>G (n.527-25939A>G) | dbSNP gnomAD v4 |
| 6 | g.136872203A>T | CA452228770 | PEX7 | c.753A>T (p.Ser251=) c.*18A>T (n.*18A>T) c.441A>T c.639A>T (p.Ser213=) c.758A>T (n.758A>T) c.633A>T (p.Ser211=) c.459A>T (p.Ser153=) c.527-25939A>T (n.527-25939A>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872204C>A | CA365764396 | PEX7 | c.754C>A (p.Pro252Thr) c.*19C>A (n.*19C>A) c.442C>A c.640C>A (p.Pro214Thr) c.759C>A (n.759C>A) c.634C>A (p.Pro212Thr) c.460C>A (p.Pro154Thr) c.527-25938C>A (n.527-25938C>A) | gnomAD v4 |
| 6 | g.136872204C>G | CA365764397 | PEX7 | c.754C>G (p.Pro252Ala) c.*19C>G (n.*19C>G) c.442C>G c.640C>G (p.Pro214Ala) c.759C>G (n.759C>G) c.634C>G (p.Pro212Ala) c.460C>G (p.Pro154Ala) c.527-25938C>G (n.527-25938C>G) | |
| 6 | g.136872204C>T | CA148202569 | PEX7 | c.754C>T (p.Pro252Ser) c.*19C>T (n.*19C>T) c.442C>T c.640C>T (p.Pro214Ser) c.759C>T (n.759C>T) c.634C>T (p.Pro212Ser) c.460C>T (p.Pro154Ser) c.527-25938C>T (n.527-25938C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872205C>A | CA365764398 | PEX7 | c.755C>A (p.Pro252Gln) c.*20C>A (n.*20C>A) c.443C>A c.641C>A (p.Pro214Gln) c.760C>A (n.760C>A) c.635C>A (p.Pro212Gln) c.461C>A (p.Pro154Gln) c.527-25937C>A (n.527-25937C>A) | gnomAD v4 |
| 6 | g.136872205C>G | CA365764399 | PEX7 | c.755C>G (p.Pro252Arg) c.*20C>G (n.*20C>G) c.443C>G c.641C>G (p.Pro214Arg) c.760C>G (n.760C>G) c.635C>G (p.Pro212Arg) c.461C>G (p.Pro154Arg) c.527-25937C>G (n.527-25937C>G) | |
| 6 | g.136872205C>T | CA365764400 | PEX7 | c.755C>T (p.Pro252Leu) c.*20C>T (n.*20C>T) c.443C>T c.641C>T (p.Pro214Leu) c.760C>T (n.760C>T) c.635C>T (p.Pro212Leu) c.461C>T (p.Pro154Leu) c.527-25937C>T (n.527-25937C>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872206A>C | CA452228772 | PEX7 | c.756A>C (p.Pro252=) c.*21A>C (n.*21A>C) c.444A>C c.642A>C (p.Pro214=) c.761A>C (n.761A>C) c.636A>C (p.Pro212=) c.462A>C (p.Pro154=) c.527-25936A>C (n.527-25936A>C) | |
| 6 | g.136872206A>G | CA452228773 | PEX7 | c.756A>G (p.Pro252=) c.*21A>G (n.*21A>G) c.444A>G c.642A>G (p.Pro214=) c.761A>G (n.761A>G) c.636A>G (p.Pro212=) c.462A>G (p.Pro154=) c.527-25936A>G (n.527-25936A>G) |