Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.35576040C>A | CA399137298 | PEX12 | c.822G>T (p.Lys274Asn) | COSMIC |
17 | g.35576040C>G | CA399137299 | PEX12 | c.822G>C (p.Lys274Asn) | ClinVar |
17 | g.35576040C>T | CA499903625 | PEX12 | c.822G>A (p.Lys274=) | gnomAD v4 |
17 | g.35576041T>A | CA399137300 | PEX12 | c.821A>T (p.Lys274Met) | |
17 | g.35576041T>C | CA399137301 | PEX12 | c.821A>G (p.Lys274Arg) | |
17 | g.35576041T>G | CA399137302 | PEX12 | c.821A>C (p.Lys274Thr) | gnomAD v4 |
17 | g.35576042T>A | CA399137303 | PEX12 | c.820A>T (p.Lys274Ter) | |
17 | g.35576042T>C | CA399137305 | PEX12 | c.820A>G (p.Lys274Glu) | |
17 | g.35576042T>G | CA399137304 | PEX12 | c.820A>C (p.Lys274Gln) | |
17 | g.35576043G>A | CA499903629 | PEX12 | c.819C>T (p.Ile273=) | ClinVar dbSNP |
17 | g.35576043G>C | CA399137306 | PEX12 | c.819C>G (p.Ile273Met) | |
17 | g.35576043G= | CA2257586644 | PEX12 | c.819C= (p.Ile273=) | |
17 | g.35576043G>T | CA499903630 | PEX12 | c.819C>A (p.Ile273=) | |
17 | g.35576044A>C | CA399137307 | PEX12 | c.818T>G (p.Ile273Ser) | |
17 | g.35576044A>G | CA399137308 | PEX12 | c.818T>C (p.Ile273Thr) | |
17 | g.35576044A>T | CA399137309 | PEX12 | c.818T>A (p.Ile273Asn) | |
17 | g.35576045T>A | CA399137310 | PEX12 | c.817A>T (p.Ile273Phe) | |
17 | g.35576045T>C | CA399137311 | PEX12 | c.817A>G (p.Ile273Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.35576045T>G | CA399137312 | PEX12 | c.817A>C (p.Ile273Leu) | |
17 | g.35576045T= | CA2257586647 | PEX12 | c.817A= (p.Ile273=) | |
17 | g.35576046G>A | CA499903635 | PEX12 | c.816C>T (p.Thr272=) | |
17 | g.35576046G>C | CA8504836 | PEX12 | c.816C>G (p.Thr272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35576046G= | CA2257586649 | PEX12 | c.816C= (p.Thr272=) | |
17 | g.35576046G>T | CA499903634 | PEX12 | c.816C>A (p.Thr272=) | |
17 | g.35576047dup | CA2739267445 | PEX12 | c.816dup (p.Ile273HisfsTer19) | ClinVar |
17 | g.35576047G>A | CA399137313 | PEX12 | c.815C>T (p.Thr272Ile) | |
17 | g.35576047G>C | CA399137314 | PEX12 | c.815C>G (p.Thr272Ser) | |
17 | g.35576047G>T | CA399137315 | PEX12 | c.815C>A (p.Thr272Asn) | |
17 | g.35576048T>A | CA399137317 | PEX12 | c.814A>T (p.Thr272Ser) | |
17 | g.35576048T>C | CA399137318 | PEX12 | c.814A>G (p.Thr272Ala) | gnomAD v4 |
17 | g.35576048T>G | CA399137316 | PEX12 | c.814A>C (p.Thr272Pro) | |
17 | g.35576049T>A | CA399137320 | PEX12 | c.813A>T (p.Glu271Asp) | |
17 | g.35576049T>C | CA499903636 | PEX12 | c.813A>G (p.Glu271=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.35576049T>G | CA399137319 | PEX12 | c.813A>C (p.Glu271Asp) | |
17 | g.35576049T= | CA2257586652 | PEX12 | c.813A= (p.Glu271=) | |
17 | g.35576050T>A | CA399137322 | PEX12 | c.812A>T (p.Glu271Val) | |
17 | g.35576050T>C | CA399137321 | PEX12 | c.812A>G (p.Glu271Gly) | |
17 | g.35576050T>G | CA399137323 | PEX12 | c.812A>C (p.Glu271Ala) | |
17 | g.35576051C>A | CA399137324 | PEX12 | c.811G>T (p.Glu271Ter) | |
17 | g.35576051C= | CA2257586655 | PEX12 | c.811G= (p.Glu271=) | |
17 | g.35576051C>G | CA8504837 | PEX12 | c.811G>C (p.Glu271Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35576051C>T | CA399137325 | PEX12 | c.811G>A (p.Glu271Lys) | ClinVar dbSNP |
17 | g.35576052T>A | CA399137326 | PEX12 | c.810A>T (p.Gln270His) | |
17 | g.35576052T>C | CA290068288 | PEX12 | c.810A>G (p.Gln270=) | dbSNP |
17 | g.35576052T>G | CA399137327 | PEX12 | c.810A>C (p.Gln270His) | |
17 | g.35576052T= | CA2257586658 | PEX12 | c.810A= (p.Gln270=) | |
17 | g.35576053T>A | CA399137328 | PEX12 | c.809A>T (p.Gln270Leu) | |
17 | g.35576053T>C | CA399137329 | PEX12 | c.809A>G (p.Gln270Arg) | |
17 | g.35576053T>G | CA399137330 | PEX12 | c.809A>C (p.Gln270Pro) | |
17 | g.35576054del | CA2580093580 | PEX12 | c.808del (p.Gln270LysfsTer7) | ClinVar gnomAD v4 |