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.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) | |
| 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) | |
| 6 | g.136872206A>T | CA452228774 | PEX7 | c.756A>T (p.Pro252=) c.*21A>T (n.*21A>T) c.444A>T c.642A>T (p.Pro214=) c.761A>T (n.761A>T) c.636A>T (p.Pro212=) c.462A>T (p.Pro154=) c.527-25936A>T (n.527-25936A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872207T>A | CA365764401 | PEX7 | c.757T>A (p.Phe253Ile) c.*22T>A (n.*22T>A) c.445T>A c.643T>A (p.Phe215Ile) c.762T>A (n.762T>A) c.637T>A (p.Phe213Ile) c.463T>A (p.Phe155Ile) c.527-25935T>A (n.527-25935T>A) | |
| 6 | g.136872207T>C | CA365764402 | PEX7 | c.757T>C (p.Phe253Leu) c.*22T>C (n.*22T>C) c.445T>C c.643T>C (p.Phe215Leu) c.762T>C (n.762T>C) c.637T>C (p.Phe213Leu) c.463T>C (p.Phe155Leu) c.527-25935T>C (n.527-25935T>C) | |
| 6 | g.136872207T>G | CA365764403 | PEX7 | c.757T>G (p.Phe253Val) c.*22T>G (n.*22T>G) c.445T>G c.643T>G (p.Phe215Val) c.762T>G (n.762T>G) c.637T>G (p.Phe213Val) c.463T>G (p.Phe155Val) c.527-25935T>G (n.527-25935T>G) | |
| 6 | g.136872208T>A | CA365764406 | PEX7 | c.758T>A (p.Phe253Tyr) c.*23T>A (n.*23T>A) c.446T>A c.644T>A (p.Phe215Tyr) c.763T>A (n.763T>A) c.638T>A (p.Phe213Tyr) c.464T>A (p.Phe155Tyr) c.527-25934T>A (n.527-25934T>A) | |
| 6 | g.136872208T>C | CA365764405 | PEX7 | c.758T>C (p.Phe253Ser) c.*23T>C (n.*23T>C) c.446T>C c.644T>C (p.Phe215Ser) c.763T>C (n.763T>C) c.638T>C (p.Phe213Ser) c.464T>C (p.Phe155Ser) c.527-25934T>C (n.527-25934T>C) | gnomAD v4 |
| 6 | g.136872208T>G | CA365764404 | PEX7 | c.758T>G (p.Phe253Cys) c.*23T>G (n.*23T>G) c.446T>G c.644T>G (p.Phe215Cys) c.763T>G (n.763T>G) c.638T>G (p.Phe213Cys) c.464T>G (p.Phe155Cys) c.527-25934T>G (n.527-25934T>G) | |
| 6 | g.136872209T>A | CA365764408 | PEX7 | c.759T>A (p.Phe253Leu) c.*24T>A (n.*24T>A) c.447T>A c.645T>A (p.Phe215Leu) c.764T>A (n.764T>A) c.639T>A (p.Phe213Leu) c.465T>A (p.Phe155Leu) c.527-25933T>A (n.527-25933T>A) | |
| 6 | g.136872209T>C | CA452228775 | PEX7 | c.759T>C (p.Phe253=) c.*24T>C (n.*24T>C) c.447T>C c.645T>C (p.Phe215=) c.764T>C (n.764T>C) c.639T>C (p.Phe213=) c.465T>C (p.Phe155=) c.527-25933T>C (n.527-25933T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872209T>G | CA365764407 | PEX7 | c.759T>G (p.Phe253Leu) c.*24T>G (n.*24T>G) c.447T>G c.645T>G (p.Phe215Leu) c.764T>G (n.764T>G) c.639T>G (p.Phe213Leu) c.465T>G (p.Phe155Leu) c.527-25933T>G (n.527-25933T>G) | |
| 6 | g.136872210C>A | CA365764411 | PEX7 | c.760C>A (p.His254Asn) c.*25C>A (n.*25C>A) c.448C>A c.646C>A (p.His216Asn) c.765C>A (n.765C>A) c.640C>A (p.His214Asn) c.466C>A (p.His156Asn) c.527-25932C>A (n.527-25932C>A) | gnomAD v4 |
| 6 | g.136872210C>G | CA365764409 | PEX7 | c.760C>G (p.His254Asp) c.*25C>G (n.*25C>G) c.448C>G c.646C>G (p.His216Asp) c.765C>G (n.765C>G) c.640C>G (p.His214Asp) c.466C>G (p.His156Asp) c.527-25932C>G (n.527-25932C>G) | |
| 6 | g.136872210C>T | CA365764410 | PEX7 | c.760C>T (p.His254Tyr) c.*25C>T (n.*25C>T) c.448C>T c.646C>T (p.His216Tyr) c.765C>T (n.765C>T) c.640C>T (p.His214Tyr) c.466C>T (p.His156Tyr) c.527-25932C>T (n.527-25932C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.136872210_136872214del | CA2680490725 | PEX7 | c.760_764del (p.His254PhefsTer9) c.*25_*29del (n.*25_*29del) c.448_452del c.646_650del (p.His216PhefsTer9) c.765_769del (n.765_769del) c.640_644del (p.His214PhefsTer9) c.466_470del (p.His156PhefsTer9) c.527-25932_527-25928del (n.527-25932_527-25928del) | gnomAD v4 |
| 6 | g.136872211A>C | CA365764412 | PEX7 | c.761A>C (p.His254Pro) c.*26A>C (n.*26A>C) c.449A>C c.647A>C (p.His216Pro) c.766A>C (n.766A>C) c.641A>C (p.His214Pro) c.467A>C (p.His156Pro) c.527-25931A>C (n.527-25931A>C) | gnomAD v4 |
| 6 | g.136872211A>G | CA365764413 | PEX7 | c.761A>G (p.His254Arg) c.*26A>G (n.*26A>G) c.449A>G c.647A>G (p.His216Arg) c.766A>G (n.766A>G) c.641A>G (p.His214Arg) c.467A>G (p.His156Arg) c.527-25931A>G (n.527-25931A>G) | |
| 6 | g.136872211A>T | CA365764414 | PEX7 | c.761A>T (p.His254Leu) c.*26A>T (n.*26A>T) c.449A>T c.647A>T (p.His216Leu) c.766A>T (n.766A>T) c.641A>T (p.His214Leu) c.467A>T (p.His156Leu) c.527-25931A>T (n.527-25931A>T) | gnomAD v4 |
| 6 | g.136872212T>A | CA365764415 | PEX7 | c.762T>A (p.His254Gln) c.*27T>A (n.*27T>A) c.450T>A c.648T>A (p.His216Gln) c.767T>A (n.767T>A) c.642T>A (p.His214Gln) c.468T>A (p.His156Gln) c.527-25930T>A (n.527-25930T>A) | |
| 6 | g.136872212T>C | CA452228776 | PEX7 | c.762T>C (p.His254=) c.*27T>C (n.*27T>C) c.450T>C c.648T>C (p.His216=) c.767T>C (n.767T>C) c.642T>C (p.His214=) c.468T>C (p.His156=) c.527-25930T>C (n.527-25930T>C) | |
| 6 | g.136872212T>G | CA365764416 | PEX7 | c.762T>G (p.His254Gln) c.*27T>G (n.*27T>G) c.450T>G c.648T>G (p.His216Gln) c.767T>G (n.767T>G) c.642T>G (p.His214Gln) c.468T>G (p.His156Gln) c.527-25930T>G (n.527-25930T>G) | |
| 6 | g.136872212_136872213insAAACATTATAATAAATTTAA | CA1094890252 | PEX7 | c.762_763insAAACATTATAATAAATTTAA (p.Ala255LysfsTer20) c.*27_*28insAAACATTATAATAAATTTAA (n.*27_*28insAAACATTATAATAAATTTAA) c.450_451insAAACATTATAATAAATTTAA c.648_649insAAACATTATAATAAATTTAA (p.Ala217LysfsTer20) c.767_768insAAACATTATAATAAATTTAA (n.767_768insAAACATTATAATAAATTTAA) c.642_643insAAACATTATAATAAATTTAA (p.Ala215LysfsTer20) c.468_469insAAACATTATAATAAATTTAA (p.Ala157LysfsTer20) c.527-25930_527-25929insAAACATTATAATAAATTTAA (n.527-25930_527-25929insAAACATTATAATAAATTTAA) | gnomAD v3 gnomAD v4 |
| 6 | g.136872213G>A | CA365764417 | PEX7 | c.763G>A (p.Ala255Thr) c.*28G>A (n.*28G>A) c.451G>A c.649G>A (p.Ala217Thr) c.768G>A (n.768G>A) c.643G>A (p.Ala215Thr) c.469G>A (p.Ala157Thr) c.527-25929G>A (n.527-25929G>A) | gnomAD v4 |
| 6 | g.136872213G>C | CA365764418 | PEX7 | c.763G>C (p.Ala255Pro) c.*28G>C (n.*28G>C) c.451G>C c.649G>C (p.Ala217Pro) c.768G>C (n.768G>C) c.643G>C (p.Ala215Pro) c.469G>C (p.Ala157Pro) c.527-25929G>C (n.527-25929G>C) | |
| 6 | g.136872213G>T | CA365764419 | PEX7 | c.763G>T (p.Ala255Ser) c.*28G>T (n.*28G>T) c.451G>T c.649G>T (p.Ala217Ser) c.768G>T (n.768G>T) c.643G>T (p.Ala215Ser) c.469G>T (p.Ala157Ser) c.527-25929G>T (n.527-25929G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872214C>A | CA365764420 | PEX7 | c.764C>A (p.Ala255Asp) c.*29C>A (n.*29C>A) c.452C>A c.650C>A (p.Ala217Asp) c.769C>A (n.769C>A) c.644C>A (p.Ala215Asp) c.470C>A (p.Ala157Asp) c.527-25928C>A (n.527-25928C>A) | gnomAD v4 |
| 6 | g.136872214C>G | CA365764421 | PEX7 | c.764C>G (p.Ala255Gly) c.*29C>G (n.*29C>G) c.452C>G c.650C>G (p.Ala217Gly) c.769C>G (n.769C>G) c.644C>G (p.Ala215Gly) c.470C>G (p.Ala157Gly) c.527-25928C>G (n.527-25928C>G) | |
| 6 | g.136872214C>T | CA148202575 | PEX7 | c.764C>T (p.Ala255Val) c.*29C>T (n.*29C>T) c.452C>T c.650C>T (p.Ala217Val) c.769C>T (n.769C>T) c.644C>T (p.Ala215Val) c.470C>T (p.Ala157Val) c.527-25928C>T (n.527-25928C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872215T>A | CA452228777 | PEX7 | c.765T>A (p.Ala255=) c.*30T>A (n.*30T>A) c.453T>A c.651T>A (p.Ala217=) c.770T>A (n.770T>A) c.645T>A (p.Ala215=) c.471T>A (p.Ala157=) c.527-25927T>A (n.527-25927T>A) | gnomAD v4 |
| 6 | g.136872215T>C | CA452228778 | PEX7 | c.765T>C (p.Ala255=) c.*30T>C (n.*30T>C) c.453T>C c.651T>C (p.Ala217=) c.770T>C (n.770T>C) c.645T>C (p.Ala215=) c.471T>C (p.Ala157=) c.527-25927T>C (n.527-25927T>C) | gnomAD v4 |
| 6 | g.136872215T>G | CA452228779 | PEX7 | c.765T>G (p.Ala255=) c.*30T>G (n.*30T>G) c.453T>G c.651T>G (p.Ala217=) c.770T>G (n.770T>G) c.645T>G (p.Ala215=) c.471T>G (p.Ala157=) c.527-25927T>G (n.527-25927T>G) | ClinVar gnomAD v4 |
| 6 | g.136872215_136872216insGAG | CA2530711930 | PEX7 | c.765_766insGAG (p.Ala255_Ser256insGlu) c.*30_*31insGAG (n.*30_*31insGAG) c.453_454insGAG c.651_652insGAG (p.Ala217_Ser218insGlu) c.770_771insGAG (n.770_771insGAG) c.645_646insGAG (p.Ala215_Ser216insGlu) c.471_472insGAG (p.Ala157_Ser158insGlu) c.527-25927_527-25926insGAG (n.527-25927_527-25926insGAG) | |
| 6 | g.136872216T>A | CA365764424 | PEX7 | c.766T>A (p.Ser256Thr) c.*31T>A (n.*31T>A) c.454T>A c.652T>A (p.Ser218Thr) c.771T>A (n.771T>A) c.646T>A (p.Ser216Thr) c.472T>A (p.Ser158Thr) c.527-25926T>A (n.527-25926T>A) | |
| 6 | g.136872216T>C | CA365764422 | PEX7 | c.766T>C (p.Ser256Pro) c.*31T>C (n.*31T>C) c.454T>C c.652T>C (p.Ser218Pro) c.771T>C (n.771T>C) c.646T>C (p.Ser216Pro) c.472T>C (p.Ser158Pro) c.527-25926T>C (n.527-25926T>C) | |
| 6 | g.136872216T>G | CA365764423 | PEX7 | c.766T>G (p.Ser256Ala) c.*31T>G (n.*31T>G) c.454T>G c.652T>G (p.Ser218Ala) c.771T>G (n.771T>G) c.646T>G (p.Ser216Ala) c.472T>G (p.Ser158Ala) c.527-25926T>G (n.527-25926T>G) | |
| 6 | g.136872217C>A | CA365764425 | PEX7 | c.767C>A (p.Ser256Tyr) c.*32C>A (n.*32C>A) c.455C>A c.653C>A (p.Ser218Tyr) c.772C>A (n.772C>A) c.647C>A (p.Ser216Tyr) c.473C>A (p.Ser158Tyr) c.527-25925C>A (n.527-25925C>A) | |
| 6 | g.136872217C>G | CA365764426 | PEX7 | c.767C>G (p.Ser256Cys) c.*32C>G (n.*32C>G) c.455C>G c.653C>G (p.Ser218Cys) c.772C>G (n.772C>G) c.647C>G (p.Ser216Cys) c.473C>G (p.Ser158Cys) c.527-25925C>G (n.527-25925C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872217C>T | CA365764427 | PEX7 | c.767C>T (p.Ser256Phe) c.*32C>T (n.*32C>T) c.455C>T c.653C>T (p.Ser218Phe) c.772C>T (n.772C>T) c.647C>T (p.Ser216Phe) c.473C>T (p.Ser158Phe) c.527-25925C>T (n.527-25925C>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872218T>A | CA452228780 | PEX7 | c.768T>A (p.Ser256=) c.*33T>A (n.*33T>A) c.456T>A c.654T>A (p.Ser218=) c.773T>A (n.773T>A) c.648T>A (p.Ser216=) c.474T>A (p.Ser158=) c.527-25924T>A (n.527-25924T>A) | |
| 6 | g.136872218T>C | CA452228781 | PEX7 | c.768T>C (p.Ser256=) c.*33T>C (n.*33T>C) c.456T>C c.654T>C (p.Ser218=) c.773T>C (n.773T>C) c.648T>C (p.Ser216=) c.474T>C (p.Ser158=) c.527-25924T>C (n.527-25924T>C) | gnomAD v4 |
| 6 | g.136872218T>G | CA452228782 | PEX7 | c.768T>G (p.Ser256=) c.*33T>G (n.*33T>G) c.456T>G c.654T>G (p.Ser218=) c.773T>G (n.773T>G) c.648T>G (p.Ser216=) c.474T>G (p.Ser158=) c.527-25924T>G (n.527-25924T>G) | |
| 6 | g.136872219G>A | CA4017754 | PEX7 | c.769G>A (p.Val257Met) c.*34G>A (n.*34G>A) c.457G>A c.655G>A (p.Val219Met) c.774G>A (n.774G>A) c.649G>A (p.Val217Met) c.475G>A (p.Val159Met) c.527-25923G>A (n.527-25923G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872219G>C | CA365764428 | PEX7 | c.769G>C (p.Val257Leu) c.*34G>C (n.*34G>C) c.457G>C c.655G>C (p.Val219Leu) c.774G>C (n.774G>C) c.649G>C (p.Val217Leu) c.475G>C (p.Val159Leu) c.527-25923G>C (n.527-25923G>C) | |
| 6 | g.136872219G>T | CA365764429 | PEX7 | c.769G>T (p.Val257Leu) c.*34G>T (n.*34G>T) c.457G>T c.655G>T (p.Val219Leu) c.774G>T (n.774G>T) c.649G>T (p.Val217Leu) c.475G>T (p.Val159Leu) c.527-25923G>T (n.527-25923G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872220T>A | CA365764430 | PEX7 | c.770T>A (p.Val257Glu) c.*35T>A (n.*35T>A) c.458T>A c.656T>A (p.Val219Glu) c.775T>A (n.775T>A) c.650T>A (p.Val217Glu) c.476T>A (p.Val159Glu) c.527-25922T>A (n.527-25922T>A) | |
| 6 | g.136872220T>C | CA365764431 | PEX7 | c.770T>C (p.Val257Ala) c.*35T>C (n.*35T>C) c.458T>C c.656T>C (p.Val219Ala) c.775T>C (n.775T>C) c.650T>C (p.Val217Ala) c.476T>C (p.Val159Ala) c.527-25922T>C (n.527-25922T>C) | |
| 6 | g.136872220T>G | CA365764432 | PEX7 | c.770T>G (p.Val257Gly) c.*35T>G (n.*35T>G) c.458T>G c.656T>G (p.Val219Gly) c.775T>G (n.775T>G) c.650T>G (p.Val217Gly) c.476T>G (p.Val159Gly) c.527-25922T>G (n.527-25922T>G) | gnomAD v4 |
| 6 | g.136872224_136872234del | CA16041020 | PEX7 | c.774_784del (p.Ala259ValfsTer2) c.*39_*49del (n.*39_*49del) c.462_472del c.660_670del (p.Ala221ValfsTer2) c.779_789del (n.779_789del) c.654_664del (p.Ala219ValfsTer2) c.480_490del (p.Ala161ValfsTer2) c.527-25918_527-25908del (n.527-25918_527-25908del) | ClinVar dbSNP |
| 6 | g.136872221G>A | CA452228783 | PEX7 | c.771G>A (p.Val257=) c.*36G>A (n.*36G>A) c.459G>A c.657G>A (p.Val219=) c.776G>A (n.776G>A) c.651G>A (p.Val217=) c.477G>A (p.Val159=) c.527-25921G>A (n.527-25921G>A) | |
| 6 | g.136872221G>C | CA452228784 | PEX7 | c.771G>C (p.Val257=) c.*36G>C (n.*36G>C) c.459G>C c.657G>C (p.Val219=) c.776G>C (n.776G>C) c.651G>C (p.Val217=) c.477G>C (p.Val159=) c.527-25921G>C (n.527-25921G>C) | |
| 6 | g.136872221G>T | CA452228785 | PEX7 | c.771G>T (p.Val257=) c.*36G>T (n.*36G>T) c.459G>T c.657G>T (p.Val219=) c.776G>T (n.776G>T) c.651G>T (p.Val217=) c.477G>T (p.Val159=) c.527-25921G>T (n.527-25921G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872222C>A | CA365764433 | PEX7 | c.772C>A (p.Leu258Met) c.*37C>A (n.*37C>A) c.460C>A c.658C>A (p.Leu220Met) c.777C>A (n.777C>A) c.652C>A (p.Leu218Met) c.478C>A (p.Leu160Met) c.527-25920C>A (n.527-25920C>A) | |
| 6 | g.136872222C>G | CA365764434 | PEX7 | c.772C>G (p.Leu258Val) c.*37C>G (n.*37C>G) c.460C>G c.658C>G (p.Leu220Val) c.777C>G (n.777C>G) c.652C>G (p.Leu218Val) c.478C>G (p.Leu160Val) c.527-25920C>G (n.527-25920C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872222C>T | CA452228786 | PEX7 | c.772C>T (p.Leu258=) c.*37C>T (n.*37C>T) c.460C>T c.658C>T (p.Leu220=) c.777C>T (n.777C>T) c.652C>T (p.Leu218=) c.478C>T (p.Leu160=) c.527-25920C>T (n.527-25920C>T) | ClinVar gnomAD v3 gnomAD v4 |
| 6 | g.136872223T>A | CA365764435 | PEX7 | c.773T>A (p.Leu258Gln) c.*38T>A (n.*38T>A) c.461T>A c.659T>A (p.Leu220Gln) c.778T>A (n.778T>A) c.653T>A (p.Leu218Gln) c.479T>A (p.Leu160Gln) c.527-25919T>A (n.527-25919T>A) | |
| 6 | g.136872223T>C | CA4017755 | PEX7 | c.773T>C (p.Leu258Pro) c.*38T>C (n.*38T>C) c.461T>C c.659T>C (p.Leu220Pro) c.778T>C (n.778T>C) c.653T>C (p.Leu218Pro) c.479T>C (p.Leu160Pro) c.527-25919T>C (n.527-25919T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872223T>G | CA365764436 | PEX7 | c.773T>G (p.Leu258Arg) c.*38T>G (n.*38T>G) c.461T>G c.659T>G (p.Leu220Arg) c.778T>G (n.778T>G) c.653T>G (p.Leu218Arg) c.479T>G (p.Leu160Arg) c.527-25919T>G (n.527-25919T>G) | |
| 6 | g.136872224G>A | CA452228789 | PEX7 | c.774G>A (p.Leu258=) c.*39G>A (n.*39G>A) c.462G>A c.660G>A (p.Leu220=) c.779G>A (n.779G>A) c.654G>A (p.Leu218=) c.480G>A (p.Leu160=) c.527-25918G>A (n.527-25918G>A) | |
| 6 | g.136872224G>C | CA452228788 | PEX7 | c.774G>C (p.Leu258=) c.*39G>C (n.*39G>C) c.462G>C c.660G>C (p.Leu220=) c.779G>C (n.779G>C) c.654G>C (p.Leu218=) c.480G>C (p.Leu160=) c.527-25918G>C (n.527-25918G>C) | gnomAD v4 |
| 6 | g.136872224G>T | CA452228787 | PEX7 | c.774G>T (p.Leu258=) c.*39G>T (n.*39G>T) c.462G>T c.660G>T (p.Leu220=) c.779G>T (n.779G>T) c.654G>T (p.Leu218=) c.480G>T (p.Leu160=) c.527-25918G>T (n.527-25918G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872225G>A | CA365764437 | PEX7 | c.775G>A (p.Ala259Thr) c.*40G>A (n.*40G>A) c.463G>A c.661G>A (p.Ala221Thr) c.780G>A (n.780G>A) c.655G>A (p.Ala219Thr) c.481G>A (p.Ala161Thr) c.527-25917G>A (n.527-25917G>A) | gnomAD v4 COSMIC |
| 6 | g.136872225G>C | CA365764438 | PEX7 | c.775G>C (p.Ala259Pro) c.*40G>C (n.*40G>C) c.463G>C c.661G>C (p.Ala221Pro) c.780G>C (n.780G>C) c.655G>C (p.Ala219Pro) c.481G>C (p.Ala161Pro) c.527-25917G>C (n.527-25917G>C) | |
| 6 | g.136872225G>T | CA365764439 | PEX7 | c.775G>T (p.Ala259Ser) c.*40G>T (n.*40G>T) c.463G>T c.661G>T (p.Ala221Ser) c.780G>T (n.780G>T) c.655G>T (p.Ala219Ser) c.481G>T (p.Ala161Ser) c.527-25917G>T (n.527-25917G>T) | gnomAD v4 |
| 6 | g.136872226C>A | CA365764440 | PEX7 | c.776C>A (p.Ala259Asp) c.*41C>A (n.*41C>A) c.464C>A c.662C>A (p.Ala221Asp) c.781C>A (n.781C>A) c.656C>A (p.Ala219Asp) c.482C>A (p.Ala161Asp) c.527-25916C>A (n.527-25916C>A) | |
| 6 | g.136872226C>G | CA365764441 | PEX7 | c.776C>G (p.Ala259Gly) c.*41C>G (n.*41C>G) c.464C>G c.662C>G (p.Ala221Gly) c.781C>G (n.781C>G) c.656C>G (p.Ala219Gly) c.482C>G (p.Ala161Gly) c.527-25916C>G (n.527-25916C>G) | |
| 6 | g.136872226C>T | CA4017756 | PEX7 | c.776C>T (p.Ala259Val) c.*41C>T (n.*41C>T) c.464C>T c.662C>T (p.Ala221Val) c.781C>T (n.781C>T) c.656C>T (p.Ala219Val) c.482C>T (p.Ala161Val) c.527-25916C>T (n.527-25916C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872227C>A | CA452228790 | PEX7 | c.777C>A (p.Ala259=) c.*42C>A (n.*42C>A) c.465C>A c.663C>A (p.Ala221=) c.782C>A (n.782C>A) c.657C>A (p.Ala219=) c.483C>A (p.Ala161=) c.527-25915C>A (n.527-25915C>A) | |
| 6 | g.136872227C>G | CA452228791 | PEX7 | c.777C>G (p.Ala259=) c.*42C>G (n.*42C>G) c.465C>G c.663C>G (p.Ala221=) c.782C>G (n.782C>G) c.657C>G (p.Ala219=) c.483C>G (p.Ala161=) c.527-25915C>G (n.527-25915C>G) | ClinVar dbSNP |
| 6 | g.136872227C>T | CA452228792 | PEX7 | c.777C>T (p.Ala259=) c.*42C>T (n.*42C>T) c.465C>T c.663C>T (p.Ala221=) c.782C>T (n.782C>T) c.657C>T (p.Ala219=) c.483C>T (p.Ala161=) c.527-25915C>T (n.527-25915C>T) | gnomAD v4 COSMIC |
| 6 | g.136872228T>A | CA365764442 | PEX7 | c.778T>A (p.Ser260Thr) c.*43T>A (n.*43T>A) c.466T>A c.664T>A (p.Ser222Thr) c.783T>A (n.783T>A) c.658T>A (p.Ser220Thr) c.484T>A (p.Ser162Thr) c.527-25914T>A (n.527-25914T>A) | ClinVar |
| 6 | g.136872228T>C | CA365764443 | PEX7 | c.778T>C (p.Ser260Pro) c.*43T>C (n.*43T>C) c.466T>C c.664T>C (p.Ser222Pro) c.783T>C (n.783T>C) c.658T>C (p.Ser220Pro) c.484T>C (p.Ser162Pro) c.527-25914T>C (n.527-25914T>C) | gnomAD v4 |
| 6 | g.136872228T>G | CA365764444 | PEX7 | c.778T>G (p.Ser260Ala) c.*43T>G (n.*43T>G) c.466T>G c.664T>G (p.Ser222Ala) c.783T>G (n.783T>G) c.658T>G (p.Ser220Ala) c.484T>G (p.Ser162Ala) c.527-25914T>G (n.527-25914T>G) | |
| 6 | g.136872229C>A | CA365764445 | PEX7 | c.779C>A (p.Ser260Tyr) c.*44C>A (n.*44C>A) c.467C>A c.665C>A (p.Ser222Tyr) c.784C>A (n.784C>A) c.659C>A (p.Ser220Tyr) c.485C>A (p.Ser162Tyr) c.527-25913C>A (n.527-25913C>A) | |
| 6 | g.136872229C>G | CA365764446 | PEX7 | c.779C>G (p.Ser260Cys) c.*44C>G (n.*44C>G) c.467C>G c.665C>G (p.Ser222Cys) c.784C>G (n.784C>G) c.659C>G (p.Ser220Cys) c.485C>G (p.Ser162Cys) c.527-25913C>G (n.527-25913C>G) | |
| 6 | g.136872229C>T | CA365764447 | PEX7 | c.779C>T (p.Ser260Phe) c.*44C>T (n.*44C>T) c.467C>T c.665C>T (p.Ser222Phe) c.784C>T (n.784C>T) c.659C>T (p.Ser220Phe) c.485C>T (p.Ser162Phe) c.527-25913C>T (n.527-25913C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872230T>A | CA452228793 | PEX7 | c.780T>A (p.Ser260=) c.*45T>A (n.*45T>A) c.468T>A c.666T>A (p.Ser222=) c.785T>A (n.785T>A) c.660T>A (p.Ser220=) c.486T>A (p.Ser162=) c.527-25912T>A (n.527-25912T>A) | |
| 6 | g.136872230T>C | CA452228794 | PEX7 | c.780T>C (p.Ser260=) c.*45T>C (n.*45T>C) c.468T>C c.666T>C (p.Ser222=) c.785T>C (n.785T>C) c.660T>C (p.Ser220=) c.486T>C (p.Ser162=) c.527-25912T>C (n.527-25912T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872230T>G | CA452228795 | PEX7 | c.780T>G (p.Ser260=) c.*45T>G (n.*45T>G) c.468T>G c.666T>G (p.Ser222=) c.785T>G (n.785T>G) c.660T>G (p.Ser220=) c.486T>G (p.Ser162=) c.527-25912T>G (n.527-25912T>G) | |
| 6 | g.136872231T>A | CA365764450 | PEX7 | c.781T>A (p.Cys261Ser) c.*46T>A (n.*46T>A) c.469T>A c.667T>A (p.Cys223Ser) c.786T>A (n.786T>A) c.661T>A (p.Cys221Ser) c.487T>A (p.Cys163Ser) c.527-25911T>A (n.527-25911T>A) | |
| 6 | g.136872231T>C | CA365764448 | PEX7 | c.781T>C (p.Cys261Arg) c.*46T>C (n.*46T>C) c.469T>C c.667T>C (p.Cys223Arg) c.786T>C (n.786T>C) c.661T>C (p.Cys221Arg) c.487T>C (p.Cys163Arg) c.527-25911T>C (n.527-25911T>C) | |
| 6 | g.136872231T>G | CA365764449 | PEX7 | c.781T>G (p.Cys261Gly) c.*46T>G (n.*46T>G) c.469T>G c.667T>G (p.Cys223Gly) c.786T>G (n.786T>G) c.661T>G (p.Cys221Gly) c.487T>G (p.Cys163Gly) c.527-25911T>G (n.527-25911T>G) | |
| 6 | g.136872232G>A | CA4017757 | PEX7 | c.782G>A (p.Cys261Tyr) c.*47G>A (n.*47G>A) c.470G>A c.668G>A (p.Cys223Tyr) c.787G>A (n.787G>A) c.662G>A (p.Cys221Tyr) c.488G>A (p.Cys163Tyr) c.527-25910G>A (n.527-25910G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872232G>C | CA365764451 | PEX7 | c.782G>C (p.Cys261Ser) c.*47G>C (n.*47G>C) c.470G>C c.668G>C (p.Cys223Ser) c.787G>C (n.787G>C) c.662G>C (p.Cys221Ser) c.488G>C (p.Cys163Ser) c.527-25910G>C (n.527-25910G>C) | |
| 6 | g.136872232G>T | CA365764452 | PEX7 | c.782G>T (p.Cys261Phe) c.*47G>T (n.*47G>T) c.470G>T c.668G>T (p.Cys223Phe) c.787G>T (n.787G>T) c.662G>T (p.Cys221Phe) c.488G>T (p.Cys163Phe) c.527-25910G>T (n.527-25910G>T) | gnomAD v4 |
| 6 | g.136872233C>A | CA365764453 | PEX7 | c.783C>A (p.Cys261Ter) c.*48C>A (n.*48C>A) c.471C>A c.669C>A (p.Cys223Ter) c.788C>A (n.788C>A) c.663C>A (p.Cys221Ter) c.489C>A (p.Cys163Ter) c.527-25909C>A (n.527-25909C>A) | |
| 6 | g.136872233C>G | CA365764454 | PEX7 | c.783C>G (p.Cys261Trp) c.*48C>G (n.*48C>G) c.471C>G c.669C>G (p.Cys223Trp) c.788C>G (n.788C>G) c.663C>G (p.Cys221Trp) c.489C>G (p.Cys163Trp) c.527-25909C>G (n.527-25909C>G) | |
| 6 | g.136872233C>T | CA452228796 | PEX7 | c.783C>T (p.Cys261=) c.*48C>T (n.*48C>T) c.471C>T c.669C>T (p.Cys223=) c.788C>T (n.788C>T) c.663C>T (p.Cys221=) c.489C>T (p.Cys163=) c.527-25909C>T (n.527-25909C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872234T>A | CA365764455 | PEX7 | c.784T>A (p.Ser262Thr) c.*49T>A (n.*49T>A) c.472T>A c.670T>A (p.Ser224Thr) c.789T>A (n.789T>A) c.664T>A (p.Ser222Thr) c.490T>A (p.Ser164Thr) c.527-25908T>A (n.527-25908T>A) | |
| 6 | g.136872234T>C | CA365764456 | PEX7 | c.784T>C (p.Ser262Pro) c.*49T>C (n.*49T>C) c.472T>C c.670T>C (p.Ser224Pro) c.789T>C (n.789T>C) c.664T>C (p.Ser222Pro) c.490T>C (p.Ser164Pro) c.527-25908T>C (n.527-25908T>C) | |
| 6 | g.136872234T>G | CA365764457 | PEX7 | c.784T>G (p.Ser262Ala) c.*49T>G (n.*49T>G) c.472T>G c.670T>G (p.Ser224Ala) c.789T>G (n.789T>G) c.664T>G (p.Ser222Ala) c.490T>G (p.Ser164Ala) c.527-25908T>G (n.527-25908T>G) | |
| 6 | g.136872235C>A | CA365764458 | PEX7 | c.785C>A (p.Ser262Ter) c.*50C>A (n.*50C>A) c.473C>A c.671C>A (p.Ser224Ter) c.790C>A (n.790C>A) c.665C>A (p.Ser222Ter) c.491C>A (p.Ser164Ter) c.527-25907C>A (n.527-25907C>A) | |
| 6 | g.136872235C>G | CA365764459 | PEX7 | c.785C>G (p.Ser262Trp) c.*50C>G (n.*50C>G) c.473C>G c.671C>G (p.Ser224Trp) c.790C>G (n.790C>G) c.665C>G (p.Ser222Trp) c.491C>G (p.Ser164Trp) c.527-25907C>G (n.527-25907C>G) | |
| 6 | g.136872235C>T | CA4017758 | PEX7 | c.785C>T (p.Ser262Leu) c.*50C>T (n.*50C>T) c.473C>T c.671C>T (p.Ser224Leu) c.790C>T (n.790C>T) c.665C>T (p.Ser222Leu) c.491C>T (p.Ser164Leu) c.527-25907C>T (n.527-25907C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872236G>A | CA4017759 | PEX7 | c.786G>A (p.Ser262=) c.*51G>A (n.*51G>A) c.474G>A c.672G>A (p.Ser224=) c.791G>A (n.791G>A) c.666G>A (p.Ser222=) c.492G>A (p.Ser164=) c.527-25906G>A (n.527-25906G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872236G>C | CA452228797 | PEX7 | c.786G>C (p.Ser262=) c.*51G>C (n.*51G>C) c.474G>C c.672G>C (p.Ser224=) c.791G>C (n.791G>C) c.666G>C (p.Ser222=) c.492G>C (p.Ser164=) c.527-25906G>C (n.527-25906G>C) | |
| 6 | g.136872236G>T | CA452228798 | PEX7 | c.786G>T (p.Ser262=) c.*51G>T (n.*51G>T) c.474G>T c.672G>T (p.Ser224=) c.791G>T (n.791G>T) c.666G>T (p.Ser222=) c.492G>T (p.Ser164=) c.527-25906G>T (n.527-25906G>T) | dbSNP |
| 6 | g.136872237T>A | CA365764461 | PEX7 | c.787T>A (p.Tyr263Asn) c.*52T>A (n.*52T>A) c.475T>A c.673T>A (p.Tyr225Asn) c.792T>A (n.792T>A) c.667T>A (p.Tyr223Asn) c.493T>A (p.Tyr165Asn) c.527-25905T>A (n.527-25905T>A) | |
| 6 | g.136872237T>C | CA365764462 | PEX7 | c.787T>C (p.Tyr263His) c.*52T>C (n.*52T>C) c.475T>C c.673T>C (p.Tyr225His) c.792T>C (n.792T>C) c.667T>C (p.Tyr223His) c.493T>C (p.Tyr165His) c.527-25905T>C (n.527-25905T>C) | |
| 6 | g.136872237T>G | CA365764460 | PEX7 | c.787T>G (p.Tyr263Asp) c.*52T>G (n.*52T>G) c.475T>G c.673T>G (p.Tyr225Asp) c.792T>G (n.792T>G) c.667T>G (p.Tyr223Asp) c.493T>G (p.Tyr165Asp) c.527-25905T>G (n.527-25905T>G) | |
| 6 | g.136872238A>C | CA365764463 | PEX7 | c.788A>C (p.Tyr263Ser) c.*53A>C (n.*53A>C) c.476A>C c.674A>C (p.Tyr225Ser) c.793A>C (n.793A>C) c.668A>C (p.Tyr223Ser) c.494A>C (p.Tyr165Ser) c.527-25904A>C (n.527-25904A>C) | |
| 6 | g.136872238A>G | CA365764465 | PEX7 | c.788A>G (p.Tyr263Cys) c.*53A>G (n.*53A>G) c.476A>G c.674A>G (p.Tyr225Cys) c.793A>G (n.793A>G) c.668A>G (p.Tyr223Cys) c.494A>G (p.Tyr165Cys) c.527-25904A>G (n.527-25904A>G) | |
| 6 | g.136872238A>T | CA365764464 | PEX7 | c.788A>T (p.Tyr263Phe) c.*53A>T (n.*53A>T) c.476A>T c.674A>T (p.Tyr225Phe) c.793A>T (n.793A>T) c.668A>T (p.Tyr223Phe) c.494A>T (p.Tyr165Phe) c.527-25904A>T (n.527-25904A>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872240_136872242del | CA452228799 | PEX7 | c.790_792del (p.Asp264del) c.*55_*57del (n.*55_*57del) c.478_480del c.676_678del (p.Asp226del) c.795_797del (n.795_797del) c.670_672del (p.Asp224del) c.496_498del (p.Asp166del) c.527-25902_527-25900del (n.527-25902_527-25900del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872239T>A | CA365764466 | PEX7 | c.789T>A (p.Tyr263Ter) c.*54T>A (n.*54T>A) c.477T>A c.675T>A (p.Tyr225Ter) c.794T>A (n.794T>A) c.669T>A (p.Tyr223Ter) c.495T>A (p.Tyr165Ter) c.527-25903T>A (n.527-25903T>A) | |
| 6 | g.136872239T>C | CA452228800 | PEX7 | c.789T>C (p.Tyr263=) c.*54T>C (n.*54T>C) c.477T>C c.675T>C (p.Tyr225=) c.794T>C (n.794T>C) c.669T>C (p.Tyr223=) c.495T>C (p.Tyr165=) c.527-25903T>C (n.527-25903T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872239T>G | CA365764467 | PEX7 | c.789T>G (p.Tyr263Ter) c.*54T>G (n.*54T>G) c.477T>G c.675T>G (p.Tyr225Ter) c.794T>G (n.794T>G) c.669T>G (p.Tyr223Ter) c.495T>G (p.Tyr165Ter) c.527-25903T>G (n.527-25903T>G) | |
| 6 | g.136872240G>A | CA365764468 | PEX7 | c.790G>A (p.Asp264Asn) c.*55G>A (n.*55G>A) c.478G>A c.676G>A (p.Asp226Asn) c.795G>A (n.795G>A) c.670G>A (p.Asp224Asn) c.496G>A (p.Asp166Asn) c.527-25902G>A (n.527-25902G>A) | |
| 6 | g.136872240G>C | CA365764469 | PEX7 | c.790G>C (p.Asp264His) c.*55G>C (n.*55G>C) c.478G>C c.676G>C (p.Asp226His) c.795G>C (n.795G>C) c.670G>C (p.Asp224His) c.496G>C (p.Asp166His) c.527-25902G>C (n.527-25902G>C) | |
| 6 | g.136872240G>T | CA365764470 | PEX7 | c.790G>T (p.Asp264Tyr) c.*55G>T (n.*55G>T) c.478G>T c.676G>T (p.Asp226Tyr) c.795G>T (n.795G>T) c.670G>T (p.Asp224Tyr) c.496G>T (p.Asp166Tyr) c.527-25902G>T (n.527-25902G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872241A>C | CA365764471 | PEX7 | c.791A>C (p.Asp264Ala) c.*56A>C (n.*56A>C) c.479A>C c.677A>C (p.Asp226Ala) c.796A>C (n.796A>C) c.671A>C (p.Asp224Ala) c.497A>C (p.Asp166Ala) c.527-25901A>C (n.527-25901A>C) | |
| 6 | g.136872241A>G | CA365764472 | PEX7 | c.791A>G (p.Asp264Gly) c.*56A>G (n.*56A>G) c.479A>G c.677A>G (p.Asp226Gly) c.796A>G (n.796A>G) c.671A>G (p.Asp224Gly) c.497A>G (p.Asp166Gly) c.527-25901A>G (n.527-25901A>G) | |
| 6 | g.136872241A>T | CA365764473 | PEX7 | c.791A>T (p.Asp264Val) c.*56A>T (n.*56A>T) c.479A>T c.677A>T (p.Asp226Val) c.796A>T (n.796A>T) c.671A>T (p.Asp224Val) c.497A>T (p.Asp166Val) c.527-25901A>T (n.527-25901A>T) | |
| 6 | g.136872242T>A | CA365764474 | PEX7 | c.792T>A (p.Asp264Glu) c.*57T>A (n.*57T>A) c.480T>A c.678T>A (p.Asp226Glu) c.797T>A (n.797T>A) c.672T>A (p.Asp224Glu) c.498T>A (p.Asp166Glu) c.527-25900T>A (n.527-25900T>A) | |
| 6 | g.136872242T>C | CA452228801 | PEX7 | c.792T>C (p.Asp264=) c.*57T>C (n.*57T>C) c.480T>C c.678T>C (p.Asp226=) c.797T>C (n.797T>C) c.672T>C (p.Asp224=) c.498T>C (p.Asp166=) c.527-25900T>C (n.527-25900T>C) | |
| 6 | g.136872242T>G | CA365764475 | PEX7 | c.792T>G (p.Asp264Glu) c.*57T>G (n.*57T>G) c.480T>G c.678T>G (p.Asp226Glu) c.797T>G (n.797T>G) c.672T>G (p.Asp224Glu) c.498T>G (p.Asp166Glu) c.527-25900T>G (n.527-25900T>G) | |
| 6 | g.136872243T>A | CA365764476 | PEX7 | c.793T>A (p.Phe265Ile) c.*58T>A (n.*58T>A) c.481T>A c.679T>A (p.Phe227Ile) c.798T>A (n.798T>A) c.673T>A (p.Phe225Ile) c.499T>A (p.Phe167Ile) c.527-25899T>A (n.527-25899T>A) | |
| 6 | g.136872243T>C | CA365764477 | PEX7 | c.793T>C (p.Phe265Leu) c.*58T>C (n.*58T>C) c.481T>C c.679T>C (p.Phe227Leu) c.798T>C (n.798T>C) c.673T>C (p.Phe225Leu) c.499T>C (p.Phe167Leu) c.527-25899T>C (n.527-25899T>C) | |
| 6 | g.136872243T>G | CA365764478 | PEX7 | c.793T>G (p.Phe265Val) c.*58T>G (n.*58T>G) c.481T>G c.679T>G (p.Phe227Val) c.798T>G (n.798T>G) c.673T>G (p.Phe225Val) c.499T>G (p.Phe167Val) c.527-25899T>G (n.527-25899T>G) | |
| 6 | g.136872244T>A | CA365764481 | PEX7 | c.794T>A (p.Phe265Tyr) c.*59T>A (n.*59T>A) c.482T>A c.680T>A (p.Phe227Tyr) c.799T>A (n.799T>A) c.674T>A (p.Phe225Tyr) c.500T>A (p.Phe167Tyr) c.527-25898T>A (n.527-25898T>A) | |
| 6 | g.136872244T>C | CA365764480 | PEX7 | c.794T>C (p.Phe265Ser) c.*59T>C (n.*59T>C) c.482T>C c.680T>C (p.Phe227Ser) c.799T>C (n.799T>C) c.674T>C (p.Phe225Ser) c.500T>C (p.Phe167Ser) c.527-25898T>C (n.527-25898T>C) | |
| 6 | g.136872244T>G | CA365764479 | PEX7 | c.794T>G (p.Phe265Cys) c.*59T>G (n.*59T>G) c.482T>G c.680T>G (p.Phe227Cys) c.799T>G (n.799T>G) c.674T>G (p.Phe225Cys) c.500T>G (p.Phe167Cys) c.527-25898T>G (n.527-25898T>G) | |
| 6 | g.136872245T>A | CA365764482 | PEX7 | c.795T>A (p.Phe265Leu) c.*60T>A (n.*60T>A) c.483T>A c.681T>A (p.Phe227Leu) c.800T>A (n.800T>A) c.675T>A (p.Phe225Leu) c.501T>A (p.Phe167Leu) c.527-25897T>A (n.527-25897T>A) | |
| 6 | g.136872245T>C | CA4017760 | PEX7 | c.795T>C (p.Phe265=) c.*60T>C (n.*60T>C) c.483T>C c.681T>C (p.Phe227=) c.800T>C (n.800T>C) c.675T>C (p.Phe225=) c.501T>C (p.Phe167=) c.527-25897T>C (n.527-25897T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872245T>G | CA365764483 | PEX7 | c.795T>G (p.Phe265Leu) c.*60T>G (n.*60T>G) c.483T>G c.681T>G (p.Phe227Leu) c.800T>G (n.800T>G) c.675T>G (p.Phe225Leu) c.501T>G (p.Phe167Leu) c.527-25897T>G (n.527-25897T>G) | |
| 6 | g.136872246A>C | CA365764484 | PEX7 | c.796A>C (p.Thr266Pro) c.*61A>C (n.*61A>C) c.484A>C c.682A>C (p.Thr228Pro) c.801A>C (n.801A>C) c.676A>C (p.Thr226Pro) c.502A>C (p.Thr168Pro) c.527-25896A>C (n.527-25896A>C) | |
| 6 | g.136872246A>G | CA365764485 | PEX7 | c.796A>G (p.Thr266Ala) c.*61A>G (n.*61A>G) c.484A>G c.682A>G (p.Thr228Ala) c.801A>G (n.801A>G) c.676A>G (p.Thr226Ala) c.502A>G (p.Thr168Ala) c.527-25896A>G (n.527-25896A>G) | |
| 6 | g.136872246A>T | CA365764486 | PEX7 | c.796A>T (p.Thr266Ser) c.*61A>T (n.*61A>T) c.484A>T c.682A>T (p.Thr228Ser) c.801A>T (n.801A>T) c.676A>T (p.Thr226Ser) c.502A>T (p.Thr168Ser) c.527-25896A>T (n.527-25896A>T) | gnomAD v4 |
| 6 | g.136872247C>A | CA365764487 | PEX7 | c.797C>A (p.Thr266Asn) c.*62C>A (n.*62C>A) c.485C>A c.683C>A (p.Thr228Asn) c.802C>A (n.802C>A) c.677C>A (p.Thr226Asn) c.503C>A (p.Thr168Asn) c.527-25895C>A (n.527-25895C>A) | gnomAD v4 |
| 6 | g.136872247C>G | CA365764488 | PEX7 | c.797C>G (p.Thr266Ser) c.*62C>G (n.*62C>G) c.485C>G c.683C>G (p.Thr228Ser) c.802C>G (n.802C>G) c.677C>G (p.Thr226Ser) c.503C>G (p.Thr168Ser) c.527-25895C>G (n.527-25895C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872247C>T | CA365764489 | PEX7 | c.797C>T (p.Thr266Ile) c.*62C>T (n.*62C>T) c.485C>T c.683C>T (p.Thr228Ile) c.802C>T (n.802C>T) c.677C>T (p.Thr226Ile) c.503C>T (p.Thr168Ile) c.527-25895C>T (n.527-25895C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872248T>A | CA452228802 | PEX7 | c.798T>A (p.Thr266=) c.*63T>A (n.*63T>A) c.486T>A c.684T>A (p.Thr228=) c.803T>A (n.803T>A) c.678T>A (p.Thr226=) c.504T>A (p.Thr168=) c.527-25894T>A (n.527-25894T>A) | |
| 6 | g.136872248T>C | CA452228803 | PEX7 | c.798T>C (p.Thr266=) c.*63T>C (n.*63T>C) c.486T>C c.684T>C (p.Thr228=) c.803T>C (n.803T>C) c.678T>C (p.Thr226=) c.504T>C (p.Thr168=) c.527-25894T>C (n.527-25894T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.136872248T>G | CA452228804 | PEX7 | c.798T>G (p.Thr266=) c.*63T>G (n.*63T>G) c.486T>G c.684T>G (p.Thr228=) c.803T>G (n.803T>G) c.678T>G (p.Thr226=) c.504T>G (p.Thr168=) c.527-25894T>G (n.527-25894T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872249G>A | CA365764490 | PEX7 | c.799G>A (p.Val267Ile) c.*64G>A (n.*64G>A) c.487G>A c.685G>A (p.Val229Ile) c.804G>A (n.804G>A) c.679G>A (p.Val227Ile) c.505G>A (p.Val169Ile) c.527-25893G>A (n.527-25893G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872249G>C | CA365764491 | PEX7 | c.799G>C (p.Val267Leu) c.*64G>C (n.*64G>C) c.487G>C c.685G>C (p.Val229Leu) c.804G>C (n.804G>C) c.679G>C (p.Val227Leu) c.505G>C (p.Val169Leu) c.527-25893G>C (n.527-25893G>C) | |
| 6 | g.136872249G>T | CA365764492 | PEX7 | c.799G>T (p.Val267Leu) c.*64G>T (n.*64G>T) c.487G>T c.685G>T (p.Val229Leu) c.804G>T (n.804G>T) c.679G>T (p.Val227Leu) c.505G>T (p.Val169Leu) c.527-25893G>T (n.527-25893G>T) | |
| 6 | g.136872250T>A | CA365764494 | PEX7 | c.800T>A (p.Val267Glu) c.*65T>A (n.*65T>A) c.488T>A c.686T>A (p.Val229Glu) c.805T>A (n.805T>A) c.680T>A (p.Val227Glu) c.506T>A (p.Val169Glu) c.527-25892T>A (n.527-25892T>A) | |
| 6 | g.136872250T>C | CA4017761 | PEX7 | c.800T>C (p.Val267Ala) c.*65T>C (n.*65T>C) c.488T>C c.686T>C (p.Val229Ala) c.805T>C (n.805T>C) c.680T>C (p.Val227Ala) c.506T>C (p.Val169Ala) c.527-25892T>C (n.527-25892T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872250T>G | CA365764493 | PEX7 | c.800T>G (p.Val267Gly) c.*65T>G (n.*65T>G) c.488T>G c.686T>G (p.Val229Gly) c.805T>G (n.805T>G) c.680T>G (p.Val227Gly) c.506T>G (p.Val169Gly) c.527-25892T>G (n.527-25892T>G) | |
| 6 | g.136872251A>C | CA452228805 | PEX7 | c.801A>C (p.Val267=) c.*66A>C (n.*66A>C) c.489A>C c.687A>C (p.Val229=) c.806A>C (n.806A>C) c.681A>C (p.Val227=) c.507A>C (p.Val169=) c.527-25891A>C (n.527-25891A>C) | |
| 6 | g.136872251A>G | CA452228807 | PEX7 | c.801A>G (p.Val267=) c.*66A>G (n.*66A>G) c.489A>G c.687A>G (p.Val229=) c.806A>G (n.806A>G) c.681A>G (p.Val227=) c.507A>G (p.Val169=) c.527-25891A>G (n.527-25891A>G) | |
| 6 | g.136872251A>T | CA452228806 | PEX7 | c.801A>T (p.Val267=) c.*66A>T (n.*66A>T) c.489A>T c.687A>T (p.Val229=) c.806A>T (n.806A>T) c.681A>T (p.Val227=) c.507A>T (p.Val169=) c.527-25891A>T (n.527-25891A>T) | |
| 6 | g.136872252A>C | CA452228808 | PEX7 | c.802A>C (p.Arg268=) c.*67A>C (n.*67A>C) c.490A>C c.688A>C (p.Arg230=) c.807A>C (n.807A>C) c.682A>C (p.Arg228=) c.508A>C (p.Arg170=) c.527-25890A>C (n.527-25890A>C) | |
| 6 | g.136872252A>G | CA365764495 | PEX7 | c.802A>G (p.Arg268Gly) c.*67A>G (n.*67A>G) c.490A>G c.688A>G (p.Arg230Gly) c.807A>G (n.807A>G) c.682A>G (p.Arg228Gly) c.508A>G (p.Arg170Gly) c.527-25890A>G (n.527-25890A>G) | gnomAD v4 |
| 6 | g.136872252A>T | CA365764496 | PEX7 | c.802A>T (p.Arg268Ter) c.*67A>T (n.*67A>T) c.490A>T c.688A>T (p.Arg230Ter) c.807A>T (n.807A>T) c.682A>T (p.Arg228Ter) c.508A>T (p.Arg170Ter) c.527-25890A>T (n.527-25890A>T) | |
| 6 | g.136872253G>A | CA365764497 | PEX7 | c.803G>A (p.Arg268Lys) c.*68G>A (n.*68G>A) c.491G>A c.689G>A (p.Arg230Lys) c.808G>A (n.808G>A) c.683G>A (p.Arg228Lys) c.509G>A (p.Arg170Lys) c.527-25889G>A (n.527-25889G>A) | |
| 6 | g.136872253G>C | CA365764498 | PEX7 | c.803G>C (p.Arg268Thr) c.*68G>C (n.*68G>C) c.491G>C c.689G>C (p.Arg230Thr) c.808G>C (n.808G>C) c.683G>C (p.Arg228Thr) c.509G>C (p.Arg170Thr) c.527-25889G>C (n.527-25889G>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872253G>T | CA365764499 | PEX7 | c.803G>T (p.Arg268Ile) c.*68G>T (n.*68G>T) c.491G>T c.689G>T (p.Arg230Ile) c.808G>T (n.808G>T) c.683G>T (p.Arg228Ile) c.509G>T (p.Arg170Ile) c.527-25889G>T (n.527-25889G>T) | |
| 6 | g.136872254G>A | CA365764500 | PEX7 | c.803+1G>A (n.803+1G>A) c.*68+1G>A (n.*68+1G>A) c.491+1G>A c.689+1G>A (n.689+1G>A) c.809G>A (n.809G>A) c.683+1G>A (n.683+1G>A) c.509+1G>A (n.509+1G>A) c.527-25888G>A (n.527-25888G>A) | ClinVar |
| 6 | g.136872254G>C | CA365764501 | PEX7 | c.803+1G>C (n.803+1G>C) c.*68+1G>C (n.*68+1G>C) c.491+1G>C c.689+1G>C (n.689+1G>C) c.809G>C (n.809G>C) c.683+1G>C (n.683+1G>C) c.509+1G>C (n.509+1G>C) c.527-25888G>C (n.527-25888G>C) | |
| 6 | g.136872254G>T | CA365764502 | PEX7 | c.803+1G>T (n.803+1G>T) c.*68+1G>T (n.*68+1G>T) c.491+1G>T c.689+1G>T (n.689+1G>T) c.809G>T (n.809G>T) c.683+1G>T (n.683+1G>T) c.509+1G>T (n.509+1G>T) c.527-25888G>T (n.527-25888G>T) | gnomAD v4 |
| 6 | g.136872255T>A | CA365764503 | PEX7 | c.803+2T>A (n.803+2T>A) c.*68+2T>A (n.*68+2T>A) c.491+2T>A c.689+2T>A (n.689+2T>A) c.810T>A (n.810T>A) c.683+2T>A (n.683+2T>A) c.509+2T>A (n.509+2T>A) c.527-25887T>A (n.527-25887T>A) | |
| 6 | g.136872255T>C | CA365764504 | PEX7 | c.803+2T>C (n.803+2T>C) c.*68+2T>C (n.*68+2T>C) c.491+2T>C c.689+2T>C (n.689+2T>C) c.810T>C (n.810T>C) c.683+2T>C (n.683+2T>C) c.509+2T>C (n.509+2T>C) c.527-25887T>C (n.527-25887T>C) | |
| 6 | g.136872255T>G | CA365764505 | PEX7 | c.803+2T>G (n.803+2T>G) c.*68+2T>G (n.*68+2T>G) c.491+2T>G c.689+2T>G (n.689+2T>G) c.810T>G (n.810T>G) c.683+2T>G (n.683+2T>G) c.509+2T>G (n.509+2T>G) c.527-25887T>G (n.527-25887T>G) | dbSNP |
| 6 | g.136872257C>G | CA4017762 | PEX7 | c.803+4C>G (n.803+4C>G) c.*68+4C>G (n.*68+4C>G) c.491+4C>G c.689+4C>G (n.689+4C>G) c.812C>G (n.812C>G) c.683+4C>G (n.683+4C>G) c.509+4C>G (n.509+4C>G) c.527-25885C>G (n.527-25885C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872258del | CA2497184246 | PEX7 | c.803+5del (n.803+5del) c.*68+5del (n.*68+5del) c.491+5del c.689+5del (n.689+5del) c.813del (n.813del) c.683+5del (n.683+5del) c.509+5del (n.509+5del) c.527-25884del (n.527-25884del) | dbSNP gnomAD v4 |
| 6 | g.136872258A>C | CA2580075146 | PEX7 | c.803+5A>C (n.803+5A>C) c.*68+5A>C (n.*68+5A>C) c.491+5A>C c.689+5A>C (n.689+5A>C) c.813A>C (n.813A>C) c.683+5A>C (n.683+5A>C) c.509+5A>C (n.509+5A>C) c.527-25884A>C (n.527-25884A>C) | ClinVar |
| 6 | g.136872258A>G | CA4017763 | PEX7 | c.803+5A>G (n.803+5A>G) c.*68+5A>G (n.*68+5A>G) c.491+5A>G c.689+5A>G (n.689+5A>G) c.813A>G (n.813A>G) c.683+5A>G (n.683+5A>G) c.509+5A>G (n.509+5A>G) c.527-25884A>G (n.527-25884A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872259G>C | CA570574085 | PEX7 | c.803+6G>C (n.803+6G>C) c.*68+6G>C (n.*68+6G>C) c.491+6G>C c.689+6G>C (n.689+6G>C) c.814G>C (n.814G>C) c.683+6G>C (n.683+6G>C) c.509+6G>C (n.509+6G>C) c.527-25883G>C (n.527-25883G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872259G>T | CA2680490728 | PEX7 | c.803+6G>T (n.803+6G>T) c.*68+6G>T (n.*68+6G>T) c.491+6G>T c.689+6G>T (n.689+6G>T) c.814G>T (n.814G>T) c.683+6G>T (n.683+6G>T) c.509+6G>T (n.509+6G>T) c.527-25883G>T (n.527-25883G>T) | gnomAD v4 |
| 6 | g.136872260T>C | CA148202651 | PEX7 | c.803+7T>C (n.803+7T>C) c.*68+7T>C (n.*68+7T>C) c.491+7T>C c.689+7T>C (n.689+7T>C) c.815T>C (n.815T>C) c.683+7T>C (n.683+7T>C) c.509+7T>C (n.509+7T>C) c.527-25882T>C (n.527-25882T>C) | dbSNP |
| 6 | g.136872261G>A | CA570574087 | PEX7 | c.803+8G>A (n.803+8G>A) c.*68+8G>A (n.*68+8G>A) c.491+8G>A c.689+8G>A (n.689+8G>A) c.816G>A (n.816G>A) c.683+8G>A (n.683+8G>A) c.509+8G>A (n.509+8G>A) c.527-25881G>A (n.527-25881G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872261G>T | CA2680490729 | PEX7 | c.803+8G>T (n.803+8G>T) c.*68+8G>T (n.*68+8G>T) c.491+8G>T c.689+8G>T (n.689+8G>T) c.816G>T (n.816G>T) c.683+8G>T (n.683+8G>T) c.509+8G>T (n.509+8G>T) c.527-25881G>T (n.527-25881G>T) | gnomAD v4 |
| 6 | g.136872262G>A | CA819535533 | PEX7 | c.803+9G>A (n.803+9G>A) c.*68+9G>A (n.*68+9G>A) c.491+9G>A c.689+9G>A (n.689+9G>A) c.817G>A (n.817G>A) c.683+9G>A (n.683+9G>A) c.509+9G>A (n.509+9G>A) c.527-25880G>A (n.527-25880G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872262_136872263del | CA2573140588 | PEX7 | c.803+9_803+10del (n.803+9_803+10del) c.*68+9_*68+10del (n.*68+9_*68+10del) c.491+9_491+10del c.689+9_689+10del (n.689+9_689+10del) c.817_818del (n.817_818del) c.683+9_683+10del (n.683+9_683+10del) c.509+9_509+10del (n.509+9_509+10del) c.527-25880_527-25879del (n.527-25880_527-25879del) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136872263T>C | CA570574088 | PEX7 | c.803+10T>C (n.803+10T>C) c.*68+10T>C (n.*68+10T>C) c.491+10T>C c.689+10T>C (n.689+10T>C) c.818T>C (n.818T>C) c.683+10T>C (n.683+10T>C) c.509+10T>C (n.509+10T>C) c.527-25879T>C (n.527-25879T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872267dup | CA4017764 | PEX7 | c.803+14dup (n.803+14dup) c.*68+14dup (n.*68+14dup) c.491+14dup c.689+14dup (n.689+14dup) c.822dup (n.822dup) c.683+14dup (n.683+14dup) c.509+14dup (n.509+14dup) c.527-25875dup (n.527-25875dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872265T>G | CA570574089 | PEX7 | c.803+12T>G (n.803+12T>G) c.*68+12T>G (n.*68+12T>G) c.491+12T>G c.689+12T>G (n.689+12T>G) c.820T>G (n.820T>G) c.683+12T>G (n.683+12T>G) c.509+12T>G (n.509+12T>G) c.527-25877T>G (n.527-25877T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872268A>G | CA2680490730 | PEX7 | c.803+15A>G (n.803+15A>G) c.*68+15A>G (n.*68+15A>G) c.491+15A>G c.689+15A>G (n.689+15A>G) c.823A>G (n.823A>G) c.683+15A>G (n.683+15A>G) c.509+15A>G (n.509+15A>G) c.527-25874A>G (n.527-25874A>G) | gnomAD v4 |
| 6 | g.136872268A>T | CA2680490731 | PEX7 | c.803+15A>T (n.803+15A>T) c.*68+15A>T (n.*68+15A>T) c.491+15A>T c.689+15A>T (n.689+15A>T) c.823A>T (n.823A>T) c.683+15A>T (n.683+15A>T) c.509+15A>T (n.509+15A>T) c.527-25874A>T (n.527-25874A>T) | gnomAD v4 |
| 6 | g.136872269A>G | CA4017765 | PEX7 | c.803+16A>G (n.803+16A>G) c.*68+16A>G (n.*68+16A>G) c.491+16A>G c.689+16A>G (n.689+16A>G) c.824A>G (n.824A>G) c.683+16A>G (n.683+16A>G) c.509+16A>G (n.509+16A>G) c.527-25873A>G (n.527-25873A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.136872270T>G | CA2680490732 | PEX7 | c.803+17T>G (n.803+17T>G) c.*68+17T>G (n.*68+17T>G) c.491+17T>G c.689+17T>G (n.689+17T>G) c.825T>G (n.825T>G) c.683+17T>G (n.683+17T>G) c.509+17T>G (n.509+17T>G) c.527-25872T>G (n.527-25872T>G) | gnomAD v4 |
| 6 | g.136872271A>G | CA4017766 | PEX7 | c.803+18A>G (n.803+18A>G) c.*68+18A>G (n.*68+18A>G) c.491+18A>G c.689+18A>G (n.689+18A>G) c.826A>G (n.826A>G) c.683+18A>G (n.683+18A>G) c.509+18A>G (n.509+18A>G) c.527-25871A>G (n.527-25871A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872272C>A | CA2680490733 | PEX7 | c.803+19C>A (n.803+19C>A) c.*68+19C>A (n.*68+19C>A) c.491+19C>A c.689+19C>A (n.689+19C>A) c.827C>A (n.827C>A) c.683+19C>A (n.683+19C>A) c.509+19C>A (n.509+19C>A) c.527-25870C>A (n.527-25870C>A) | gnomAD v4 |
| 6 | g.136872273A>C | CA2739266182 | PEX7 | c.803+20A>C (n.803+20A>C) c.*68+20A>C (n.*68+20A>C) c.491+20A>C c.689+20A>C (n.689+20A>C) c.828A>C (n.828A>C) c.683+20A>C (n.683+20A>C) c.509+20A>C (n.509+20A>C) c.527-25869A>C (n.527-25869A>C) | ClinVar |
| 6 | g.136872275T>C | CA2578751873 | PEX7 | c.803+22T>C (n.803+22T>C) c.*68+22T>C (n.*68+22T>C) c.491+22T>C c.689+22T>C (n.689+22T>C) c.830T>C (n.830T>C) c.683+22T>C (n.683+22T>C) c.509+22T>C (n.509+22T>C) c.527-25867T>C (n.527-25867T>C) | |
| 6 | g.136872277C>A | CA2680490735 | PEX7 | c.803+24C>A (n.803+24C>A) c.*68+24C>A (n.*68+24C>A) c.491+24C>A c.689+24C>A (n.689+24C>A) c.832C>A (n.832C>A) c.683+24C>A (n.683+24C>A) c.509+24C>A (n.509+24C>A) c.527-25865C>A (n.527-25865C>A) | gnomAD v4 |
| 6 | g.136872277C>T | CA2680490734 | PEX7 | c.803+24C>T (n.803+24C>T) c.*68+24C>T (n.*68+24C>T) c.491+24C>T c.689+24C>T (n.689+24C>T) c.832C>T (n.832C>T) c.683+24C>T (n.683+24C>T) c.509+24C>T (n.509+24C>T) c.527-25865C>T (n.527-25865C>T) | gnomAD v4 |
| 6 | g.136872278A>G | CA570574092 | PEX7 | c.803+25A>G (n.803+25A>G) c.*68+25A>G (n.*68+25A>G) c.491+25A>G c.689+25A>G (n.689+25A>G) c.833A>G (n.833A>G) c.683+25A>G (n.683+25A>G) c.509+25A>G (n.509+25A>G) c.527-25864A>G (n.527-25864A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872279T>C | CA4017767 | PEX7 | c.803+26T>C (n.803+26T>C) c.*68+26T>C (n.*68+26T>C) c.491+26T>C c.689+26T>C (n.689+26T>C) c.834T>C (n.834T>C) c.683+26T>C (n.683+26T>C) c.509+26T>C (n.509+26T>C) c.527-25863T>C (n.527-25863T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136872279_136872280insAAACATTATAATAAATTTAAGTTGAG | CA2773214653 | PEX7 | c.803+26_803+27insAAACATTATAATAAATTTAAGTTGAG (n.803+26_803+27insAAACATTATAATAAATTTAAGTTGAG) c.*68+26_*68+27insAAACATTATAATAAATTTAAGTTGAG (n.*68+26_*68+27insAAACATTATAATAAATTTAAGTTGAG) c.491+26_491+27insAAACATTATAATAAATTTAAGTTGAG c.689+26_689+27insAAACATTATAATAAATTTAAGTTGAG (n.689+26_689+27insAAACATTATAATAAATTTAAGTTGAG) c.834_835insAAACATTATAATAAATTTAAGTTGAG (n.834_835insAAACATTATAATAAATTTAAGTTGAG) c.683+26_683+27insAAACATTATAATAAATTTAAGTTGAG (n.683+26_683+27insAAACATTATAATAAATTTAAGTTGAG) c.509+26_509+27insAAACATTATAATAAATTTAAGTTGAG (n.509+26_509+27insAAACATTATAATAAATTTAAGTTGAG) c.527-25863_527-25862insAAACATTATAATAAATTTAAGTTGAG (n.527-25863_527-25862insAAACATTATAATAAATTTAAGTTGAG) | |
| 6 | g.136872280T>A | CA2680490736 | PEX7 | c.803+27T>A (n.803+27T>A) c.*68+27T>A (n.*68+27T>A) c.491+27T>A c.689+27T>A (n.689+27T>A) c.835T>A (n.835T>A) c.683+27T>A (n.683+27T>A) c.509+27T>A (n.509+27T>A) c.527-25862T>A (n.527-25862T>A) | gnomAD v4 |
| 6 | g.136872281G>A | CA2680490737 | PEX7 | c.803+28G>A (n.803+28G>A) c.*68+28G>A (n.*68+28G>A) c.491+28G>A c.689+28G>A (n.689+28G>A) c.836G>A (n.836G>A) c.683+28G>A (n.683+28G>A) c.509+28G>A (n.509+28G>A) c.527-25861G>A (n.527-25861G>A) | gnomAD v4 |
| 6 | g.136872281G>T | CA2604515751 | PEX7 | c.803+28G>T (n.803+28G>T) c.*68+28G>T (n.*68+28G>T) c.491+28G>T c.689+28G>T (n.689+28G>T) c.836G>T (n.836G>T) c.683+28G>T (n.683+28G>T) c.509+28G>T (n.509+28G>T) c.527-25861G>T (n.527-25861G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.136872282T>C | CA2680490738 | PEX7 | c.803+29T>C (n.803+29T>C) c.*68+29T>C (n.*68+29T>C) c.491+29T>C c.689+29T>C (n.689+29T>C) c.837T>C (n.837T>C) c.683+29T>C (n.683+29T>C) c.509+29T>C (n.509+29T>C) c.527-25860T>C (n.527-25860T>C) | gnomAD v4 |
| 6 | g.136872283G>T | CA2512568751 | PEX7 | c.803+30G>T (n.803+30G>T) c.*68+30G>T (n.*68+30G>T) c.491+30G>T c.689+30G>T (n.689+30G>T) c.838G>T (n.838G>T) c.683+30G>T (n.683+30G>T) c.509+30G>T (n.509+30G>T) c.527-25859G>T (n.527-25859G>T) | gnomAD v4 |
| 6 | g.136872284A>G | CA2680490739 | PEX7 | c.803+31A>G (n.803+31A>G) c.*68+31A>G (n.*68+31A>G) c.491+31A>G c.689+31A>G (n.689+31A>G) c.839A>G (n.839A>G) c.683+31A>G (n.683+31A>G) c.509+31A>G (n.509+31A>G) c.527-25858A>G (n.527-25858A>G) | gnomAD v4 |
| 6 | g.136872285A>G | CA570574093 | PEX7 | c.803+32A>G (n.803+32A>G) c.*68+32A>G (n.*68+32A>G) c.491+32A>G c.689+32A>G (n.689+32A>G) c.840A>G (n.840A>G) c.683+32A>G (n.683+32A>G) c.509+32A>G (n.509+32A>G) c.527-25857A>G (n.527-25857A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872287T>C | CA819535560 | PEX7 | c.803+34T>C (n.803+34T>C) c.*68+34T>C (n.*68+34T>C) c.491+34T>C c.689+34T>C (n.689+34T>C) c.842T>C (n.842T>C) c.683+34T>C (n.683+34T>C) c.509+34T>C (n.509+34T>C) c.527-25855T>C (n.527-25855T>C) | dbSNP gnomAD v4 |
| 6 | g.136872288A>G | CA2773214654 | PEX7 | c.803+35A>G (n.803+35A>G) c.*68+35A>G (n.*68+35A>G) c.491+35A>G c.689+35A>G (n.689+35A>G) c.843A>G (n.843A>G) c.683+35A>G (n.683+35A>G) c.509+35A>G (n.509+35A>G) c.527-25854A>G (n.527-25854A>G) | |
| 6 | g.136872289C>A | CA2578751874 | PEX7 | c.803+36C>A (n.803+36C>A) c.*68+36C>A (n.*68+36C>A) c.491+36C>A c.689+36C>A (n.689+36C>A) c.844C>A (n.844C>A) c.683+36C>A (n.683+36C>A) c.509+36C>A (n.509+36C>A) c.527-25853C>A (n.527-25853C>A) | gnomAD v4 |
| 6 | g.136872289C>G | CA2773214656 | PEX7 | c.803+36C>G (n.803+36C>G) c.*68+36C>G (n.*68+36C>G) c.491+36C>G c.689+36C>G (n.689+36C>G) c.844C>G (n.844C>G) c.683+36C>G (n.683+36C>G) c.509+36C>G (n.509+36C>G) c.527-25853C>G (n.527-25853C>G) | |
| 6 | g.136872290del | CA2680490740 | PEX7 | c.803+37del (n.803+37del) c.*68+37del (n.*68+37del) c.491+37del c.689+37del (n.689+37del) c.845del (n.845del) c.683+37del (n.683+37del) c.509+37del (n.509+37del) c.527-25852del (n.527-25852del) | gnomAD v4 |
| 6 | g.136872290C>A | CA570574094 | PEX7 | c.803+37C>A (n.803+37C>A) c.*68+37C>A (n.*68+37C>A) c.491+37C>A c.689+37C>A (n.689+37C>A) c.845C>A (n.845C>A) c.683+37C>A (n.683+37C>A) c.509+37C>A (n.509+37C>A) c.527-25852C>A (n.527-25852C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136872290C>G | CA2680490741 | PEX7 | c.803+37C>G (n.803+37C>G) c.*68+37C>G (n.*68+37C>G) c.491+37C>G c.689+37C>G (n.689+37C>G) c.845C>G (n.845C>G) c.683+37C>G (n.683+37C>G) c.509+37C>G (n.509+37C>G) c.527-25852C>G (n.527-25852C>G) | gnomAD v4 |
| 6 | g.136872291A>G | CA2680490742 | PEX7 | c.803+38A>G (n.803+38A>G) c.*68+38A>G (n.*68+38A>G) c.491+38A>G c.689+38A>G (n.689+38A>G) c.846A>G (n.846A>G) c.683+38A>G (n.683+38A>G) c.509+38A>G (n.509+38A>G) c.527-25851A>G (n.527-25851A>G) | gnomAD v4 |
| 6 | g.136872293G>T | CA2680490743 | PEX7 | c.803+40G>T (n.803+40G>T) c.*68+40G>T (n.*68+40G>T) c.491+40G>T c.689+40G>T (n.689+40G>T) c.848G>T (n.848G>T) c.683+40G>T (n.683+40G>T) c.509+40G>T (n.509+40G>T) c.527-25849G>T (n.527-25849G>T) | gnomAD v4 |
| 6 | g.136872295A>G | CA2578751875 | PEX7 | c.803+42A>G (n.803+42A>G) c.*68+42A>G (n.*68+42A>G) c.491+42A>G c.689+42A>G (n.689+42A>G) c.850A>G (n.850A>G) c.683+42A>G (n.683+42A>G) c.509+42A>G (n.509+42A>G) c.527-25847A>G (n.527-25847A>G) | |
| 6 | g.136872297C>A | CA2680490744 | PEX7 | c.803+44C>A (n.803+44C>A) c.*68+44C>A (n.*68+44C>A) c.491+44C>A c.689+44C>A (n.689+44C>A) c.852C>A (n.852C>A) c.683+44C>A (n.683+44C>A) c.509+44C>A (n.509+44C>A) c.527-25845C>A (n.527-25845C>A) | gnomAD v4 |
| 6 | g.136872297C>G | CA2713124640 | PEX7 | c.803+44C>G (n.803+44C>G) c.*68+44C>G (n.*68+44C>G) c.491+44C>G c.689+44C>G (n.689+44C>G) c.852C>G (n.852C>G) c.683+44C>G (n.683+44C>G) c.509+44C>G (n.509+44C>G) c.527-25845C>G (n.527-25845C>G) | dbSNP |
| 6 | g.136872297C>T | CA4017768 | PEX7 | c.803+44C>T (n.803+44C>T) c.*68+44C>T (n.*68+44C>T) c.491+44C>T c.689+44C>T (n.689+44C>T) c.852C>T (n.852C>T) c.683+44C>T (n.683+44C>T) c.509+44C>T (n.509+44C>T) c.527-25845C>T (n.527-25845C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872298A= | CA2497029463 | PEX7 | c.803+45A= (n.803+45A=) c.*68+45A= (n.*68+45A=) c.491+45A= c.689+45A= (n.689+45A=) c.853A= (n.853A=) c.683+45A= (n.683+45A=) c.509+45A= (n.509+45A=) c.527-25844A= (n.527-25844A=) | |
| 6 | g.136872298A>C | CA2581619094 | PEX7 | c.803+45A>C (n.803+45A>C) c.*68+45A>C (n.*68+45A>C) c.491+45A>C c.689+45A>C (n.689+45A>C) c.853A>C (n.853A>C) c.683+45A>C (n.683+45A>C) c.509+45A>C (n.509+45A>C) c.527-25844A>C (n.527-25844A>C) | |
| 6 | g.136872298A>G | CA4017769 | PEX7 | c.803+45A>G (n.803+45A>G) c.*68+45A>G (n.*68+45A>G) c.491+45A>G c.689+45A>G (n.689+45A>G) c.853A>G (n.853A>G) c.683+45A>G (n.683+45A>G) c.509+45A>G (n.509+45A>G) c.527-25844A>G (n.527-25844A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136872298A>T | CA2581619093 | PEX7 | c.803+45A>T (n.803+45A>T) c.*68+45A>T (n.*68+45A>T) c.491+45A>T c.689+45A>T (n.689+45A>T) c.853A>T (n.853A>T) c.683+45A>T (n.683+45A>T) c.509+45A>T (n.509+45A>T) c.527-25844A>T (n.527-25844A>T) | gnomAD v4 |
| 6 | g.136872299T>C | CA570574095 | PEX7 | c.803+46T>C (n.803+46T>C) c.*68+46T>C (n.*68+46T>C) c.491+46T>C c.689+46T>C (n.689+46T>C) c.854T>C (n.854T>C) c.683+46T>C (n.683+46T>C) c.509+46T>C (n.509+46T>C) c.527-25843T>C (n.527-25843T>C) | dbSNP gnomAD v2 gnomAD v4 |