Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.35577345A>C | CA399138270 | PEX12 | c.373T>G (p.Tyr125Asp) | |
17 | g.35577345A>G | CA399138271 | PEX12 | c.373T>C (p.Tyr125His) | ClinVar dbSNP |
17 | g.35577345A>T | CA399138272 | PEX12 | c.373T>A (p.Tyr125Asn) | |
17 | g.35577346G>A | CA499903453 | PEX12 | c.372C>T (p.Pro124=) | |
17 | g.35577346G>C | CA499903455 | PEX12 | c.372C>G (p.Pro124=) | ClinVar |
17 | g.35577346G= | CA2257588000 | PEX12 | c.372C= (p.Pro124=) | |
17 | g.35577346G>T | CA8504917 | PEX12 | c.372C>A (p.Pro124=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577347G>A | CA399138273 | PEX12 | c.371C>T (p.Pro124Leu) | |
17 | g.35577347G>C | CA399138274 | PEX12 | c.371C>G (p.Pro124Arg) | |
17 | g.35577347G>T | CA399138275 | PEX12 | c.371C>A (p.Pro124His) | |
17 | g.35577347_35577350delinsGGAA | CA2257588002 | PEX12 | c.368_371delinsTTCC (p.Leu123=) | |
17 | g.35577348G>A | CA399138277 | PEX12 | c.370C>T (p.Pro124Ser) | |
17 | g.35577348G>C | CA399138278 | PEX12 | c.370C>G (p.Pro124Ala) | |
17 | g.35577348G>T | CA399138276 | PEX12 | c.370C>A (p.Pro124Thr) | |
17 | g.35577354_35577356del | CA8504918 | PEX12 | c.368_370del (p.Leu123del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.35577349A>C | CA499903457 | PEX12 | c.369T>G (p.Leu123=) | |
17 | g.35577349A>G | CA499903458 | PEX12 | c.369T>C (p.Leu123=) | |
17 | g.35577349A>T | CA499903460 | PEX12 | c.369T>A (p.Leu123=) | |
17 | g.35577350A= | CA2257588004 | PEX12 | c.368T= (p.Leu123=) | |
17 | g.35577350A>C | CA399138279 | PEX12 | c.368T>G (p.Leu123Arg) | |
17 | g.35577350A>G | CA399138280 | PEX12 | c.368T>C (p.Leu123Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577350A>T | CA399138281 | PEX12 | c.368T>A (p.Leu123His) | |
17 | g.35577351G>A | CA399138282 | PEX12 | c.367C>T (p.Leu123Phe) | gnomAD v4 |
17 | g.35577351G>C | CA399138283 | PEX12 | c.367C>G (p.Leu123Val) | |
17 | g.35577351G>T | CA399138284 | PEX12 | c.367C>A (p.Leu123Ile) | |
17 | g.35577352A>C | CA499903463 | PEX12 | c.366T>G (p.Leu122=) | |
17 | g.35577352A>G | CA499903464 | PEX12 | c.366T>C (p.Leu122=) | |
17 | g.35577352A>T | CA499903465 | PEX12 | c.366T>A (p.Leu122=) | |
17 | g.35577353A>C | CA399138285 | PEX12 | c.365T>G (p.Leu122Arg) | |
17 | g.35577353A>G | CA399138286 | PEX12 | c.365T>C (p.Leu122Pro) | |
17 | g.35577353A>T | CA399138287 | PEX12 | c.365T>A (p.Leu122His) | |
17 | g.35577354G>A | CA399138288 | PEX12 | c.364C>T (p.Leu122Phe) | gnomAD v4 |
17 | g.35577354G>C | CA399138289 | PEX12 | c.364C>G (p.Leu122Val) | |
17 | g.35577354G>T | CA399138290 | PEX12 | c.364C>A (p.Leu122Ile) | |
17 | g.35577355A>C | CA499903469 | PEX12 | c.363T>G (p.Val121=) | |
17 | g.35577355A>G | CA499903468 | PEX12 | c.363T>C (p.Val121=) | |
17 | g.35577355A>T | CA499903467 | PEX12 | c.363T>A (p.Val121=) | |
17 | g.35577356del | CA2695201323 | PEX12 | c.363del (p.Leu122PhefsTer5) | ClinVar |
17 | g.35577356A>C | CA399138293 | PEX12 | c.362T>G (p.Val121Gly) | |
17 | g.35577356A>G | CA399138291 | PEX12 | c.362T>C (p.Val121Ala) | |
17 | g.35577356A>T | CA399138292 | PEX12 | c.362T>A (p.Val121Asp) | |
17 | g.35577357C>A | CA399138294 | PEX12 | c.361G>T (p.Val121Phe) | ClinVar |
17 | g.35577357C= | CA2257588005 | PEX12 | c.361G= (p.Val121=) | |
17 | g.35577357C>G | CA399138295 | PEX12 | c.361G>C (p.Val121Leu) | dbSNP gnomAD v2 |
17 | g.35577357C>T | CA399138296 | PEX12 | c.361G>A (p.Val121Ile) | gnomAD v4 |
17 | g.35577358C>A | CA499903470 | PEX12 | c.360G>T (p.Leu120=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577358C= | CA2257588007 | PEX12 | c.360G= (p.Leu120=) | |
17 | g.35577358C>G | CA8504919 | PEX12 | c.360G>C (p.Leu120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577358C>T | CA499903472 | PEX12 | c.360G>A (p.Leu120=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577359A>C | CA399138297 | PEX12 | c.359T>G (p.Leu120Arg) |