| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.35575900_35575903del | CA8504812 | PEX12 | c.961_964del (p.Gly321MetfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35575903G>A | CA119067 | PEX12 | c.959C>T (p.Ser320Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.35575903G>C | CA399137019 | PEX12 | c.959C>G (p.Ser320Cys) | |
| 17 | g.35575903G= | CA2257586401 | PEX12 | c.959C= (p.Ser320=) | |
| 17 | g.35575903G>T | CA399137020 | PEX12 | c.959C>A (p.Ser320Tyr) | |
| 17 | g.35575904A>C | CA399137023 | PEX12 | c.958T>G (p.Ser320Ala) | |
| 17 | g.35575904A>G | CA399137021 | PEX12 | c.958T>C (p.Ser320Pro) | |
| 17 | g.35575904A>T | CA399137022 | PEX12 | c.958T>A (p.Ser320Thr) | |
| 17 | g.35575905G>A | CA499903437 | PEX12 | c.957C>T (p.Thr319=) | |
| 17 | g.35575905G>C | CA499903439 | PEX12 | c.957C>G (p.Thr319=) | ClinVar gnomAD v4 |
| 17 | g.35575905G>T | CA499903440 | PEX12 | c.957C>A (p.Thr319=) | |
| 17 | g.35575906G>A | CA399137024 | PEX12 | c.956C>T (p.Thr319Ile) | gnomAD v4 |
| 17 | g.35575906G>C | CA399137025 | PEX12 | c.956C>G (p.Thr319Ser) | |
| 17 | g.35575906G>T | CA399137026 | PEX12 | c.956C>A (p.Thr319Asn) | |
| 17 | g.35575907T>A | CA399137027 | PEX12 | c.955A>T (p.Thr319Ser) | |
| 17 | g.35575907T>C | CA399137028 | PEX12 | c.955A>G (p.Thr319Ala) | gnomAD v4 |
| 17 | g.35575907T>G | CA399137029 | PEX12 | c.955A>C (p.Thr319Pro) | |
| 17 | g.35575908G>A | CA499903441 | PEX12 | c.954C>T (p.Ala318=) | |
| 17 | g.35575908G>C | CA499903443 | PEX12 | c.954C>G (p.Ala318=) | |
| 17 | g.35575908G>T | CA499903445 | PEX12 | c.954C>A (p.Ala318=) | |
| 17 | g.35575909G>A | CA8504813 | PEX12 | c.953C>T (p.Ala318Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35575909G>C | CA399137030 | PEX12 | c.953C>G (p.Ala318Gly) | |
| 17 | g.35575909G= | CA2257586407 | PEX12 | c.953C= (p.Ala318=) | |
| 17 | g.35575909G>T | CA399137031 | PEX12 | c.953C>A (p.Ala318Asp) | |
| 17 | g.35575910C>A | CA399137032 | PEX12 | c.952G>T (p.Ala318Ser) | |
| 17 | g.35575910C= | CA2257586411 | PEX12 | c.952G= (p.Ala318=) | |
| 17 | g.35575910C>G | CA399137033 | PEX12 | c.952G>C (p.Ala318Pro) | dbSNP |
| 17 | g.35575910C>T | CA399137034 | PEX12 | c.952G>A (p.Ala318Thr) | |
| 17 | g.35575911A>C | CA499903448 | PEX12 | c.951T>G (p.Leu317=) | |
| 17 | g.35575911A>G | CA499903449 | PEX12 | c.951T>C (p.Leu317=) | |
| 17 | g.35575911A>T | CA499903451 | PEX12 | c.951T>A (p.Leu317=) | |
| 17 | g.35575912A>C | CA399137037 | PEX12 | c.950T>G (p.Leu317Arg) | |
| 17 | g.35575912A>G | CA399137035 | PEX12 | c.950T>C (p.Leu317Pro) | |
| 17 | g.35575912A>T | CA399137036 | PEX12 | c.950T>A (p.Leu317His) | |
| 17 | g.35575913G>A | CA119070 | PEX12 | c.949C>T (p.Leu317Phe) | ClinVar dbSNP |
| 17 | g.35575913G>C | CA399137039 | PEX12 | c.949C>G (p.Leu317Val) | gnomAD v4 |
| 17 | g.35575913G= | CA2257586415 | PEX12 | c.949C= (p.Leu317=) | |
| 17 | g.35575913G>T | CA399137038 | PEX12 | c.949C>A (p.Leu317Ile) | |
| 17 | g.35575914A>C | CA499903456 | PEX12 | c.948T>G (p.Val316=) | |
| 17 | g.35575914A>G | CA499903452 | PEX12 | c.948T>C (p.Val316=) | |
| 17 | g.35575914A>T | CA499903454 | PEX12 | c.948T>A (p.Val316=) | |
| 17 | g.35575915A= | CA2257586420 | PEX12 | c.947T= (p.Val316=) | |
| 17 | g.35575915A>C | CA399137040 | PEX12 | c.947T>G (p.Val316Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35575915A>G | CA399137041 | PEX12 | c.947T>C (p.Val316Ala) | |
| 17 | g.35575915A>T | CA399137042 | PEX12 | c.947T>A (p.Val316Asp) | |
| 17 | g.35575916C>A | CA399137043 | PEX12 | c.946G>T (p.Val316Phe) | |
| 17 | g.35575916C= | CA2257586422 | PEX12 | c.946G= (p.Val316=) | |
| 17 | g.35575916C>G | CA8504814 | PEX12 | c.946G>C (p.Val316Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35575916C>T | CA399137044 | PEX12 | c.946G>A (p.Val316Ile) | |
| 17 | g.35575917A>C | CA499903459 | PEX12 | c.945T>G (p.Thr315=) |