17 | g.35577347_35577350delinsGGAA | CA2257588002 | PEX12 | c.368_371delinsTTCC (p.Leu123=)
| |
17 | g.35577354_35577356del | CA8504918 | PEX12 | c.368_370del (p.Leu123del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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)
| |
17 | g.35577359A>G | CA399138298 | PEX12 | c.359T>C (p.Leu120Pro)
| |
17 | g.35577359A>T | CA399138299 | PEX12 | c.359T>A (p.Leu120Gln)
| |
17 | g.35577360G>A | CA290069507 | PEX12 | c.358C>T (p.Leu120=)
| dbSNP |
17 | g.35577360G>C | CA399138300 | PEX12 | c.358C>G (p.Leu120Val)
| |
17 | g.35577360G= | CA2257588008 | PEX12 | c.358C= (p.Leu120=)
| |
17 | g.35577360G>T | CA399138301 | PEX12 | c.358C>A (p.Leu120Met)
| |
17 | g.35577361G>A | CA499903473 | PEX12 | c.357C>T (p.Phe119=)
| gnomAD v4 |
17 | g.35577361G>C | CA399138302 | PEX12 | c.357C>G (p.Phe119Leu)
| |
17 | g.35577361G>T | CA399138303 | PEX12 | c.357C>A (p.Phe119Leu)
| |
17 | g.35577362A>C | CA399138306 | PEX12 | c.356T>G (p.Phe119Cys)
| |
17 | g.35577362A>G | CA399138305 | PEX12 | c.356T>C (p.Phe119Ser)
| |
17 | g.35577362A>T | CA399138304 | PEX12 | c.356T>A (p.Phe119Tyr)
| |
17 | g.35577363A>C | CA399138308 | PEX12 | c.355T>G (p.Phe119Val)
| |
17 | g.35577363A>G | CA399138307 | PEX12 | c.355T>C (p.Phe119Leu)
| |
17 | g.35577363A>T | CA399138309 | PEX12 | c.355T>A (p.Phe119Ile)
| |
17 | g.35577364C>A | CA399138310 | PEX12 | c.354G>T (p.Met118Ile)
| dbSNP gnomAD v4 |
17 | g.35577364C= | CA2257588010 | PEX12 | c.354G= (p.Met118=)
| |
17 | g.35577364C>G | CA399138311 | PEX12 | c.354G>C (p.Met118Ile)
| gnomAD v4 |
17 | g.35577364C>T | CA290069512 | PEX12 | c.354G>A (p.Met118Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577365A= | CA2257588012 | PEX12 | c.353T= (p.Met118=)
| |
17 | g.35577365A>C | CA399138312 | PEX12 | c.353T>G (p.Met118Arg)
| |
17 | g.35577365A>G | CA10649923 | PEX12 | c.353T>C (p.Met118Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577365A>T | CA399138313 | PEX12 | c.353T>A (p.Met118Lys)
| |
17 | g.35577366T>A | CA399138314 | PEX12 | c.352A>T (p.Met118Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577366T>C | CA8504920 | PEX12 | c.352A>G (p.Met118Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577366T>G | CA399138315 | PEX12 | c.352A>C (p.Met118Leu)
| |
17 | g.35577366T= | CA2257588015 | PEX12 | c.352A= (p.Met118=)
| |
17 | g.35577367A>C | CA399138316 | PEX12 | c.351T>G (p.Ile117Met)
| |
17 | g.35577367A>G | CA499903478 | PEX12 | c.351T>C (p.Ile117=)
| ClinVar dbSNP |
17 | g.35577367A>T | CA499903480 | PEX12 | c.351T>A (p.Ile117=)
| |
17 | g.35577368A>C | CA399138317 | PEX12 | c.350T>G (p.Ile117Ser)
| gnomAD v4 |
17 | g.35577368A>G | CA399138318 | PEX12 | c.350T>C (p.Ile117Thr)
| |
17 | g.35577368A>T | CA399138319 | PEX12 | c.350T>A (p.Ile117Asn)
| |
17 | g.35577369T>A | CA399138321 | PEX12 | c.349A>T (p.Ile117Phe)
| COSMIC |
17 | g.35577369T>C | CA8504921 | PEX12 | c.349A>G (p.Ile117Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577369T>G | CA399138320 | PEX12 | c.349A>C (p.Ile117Leu)
| ClinVar |
17 | g.35577369T= | CA2257588017 | PEX12 | c.349A= (p.Ile117=)
| |
17 | g.35577370A>C | CA499903481 | PEX12 | c.348T>G (p.Ser116=)
| |
17 | g.35577370A>G | CA499903482 | PEX12 | c.348T>C (p.Ser116=)
| ClinVar dbSNP |
17 | g.35577370A>T | CA499903483 | PEX12 | c.348T>A (p.Ser116=)
| |
17 | g.35577370dup | CA983271474 | PEX12 | c.348dup (p.Ile117TyrfsTer20)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577371G>A | CA399138322 | PEX12 | c.347C>T (p.Ser116Phe)
| gnomAD v4 |
17 | g.35577371G>C | CA399138323 | PEX12 | c.347C>G (p.Ser116Cys)
| gnomAD v4 |
17 | g.35577371G>T | CA399138324 | PEX12 | c.347C>A (p.Ser116Tyr)
| |
17 | g.35577371_35577373delinsGAT | CA2257588019 | PEX12 | c.345_347delinsATC (p.Lys115=)
| |
17 | g.35577372del | CA2637283094 | PEX12 | c.346del (p.Ser116LeufsTer11)
| gnomAD v4 |
17 | g.35577372A= | CA2257588022 | PEX12 | c.346T= (p.Ser116=)
| |
17 | g.35577372A>C | CA399138325 | PEX12 | c.346T>G (p.Ser116Ala)
| |
17 | g.35577372A>G | CA8504922 | PEX12 | c.346T>C (p.Ser116Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577372A>T | CA399138326 | PEX12 | c.346T>A (p.Ser116Thr)
| |
17 | g.35577372_35577373del | CA2257588021 | PEX12 | c.345_346del (p.Lys115AsnfsTer21)
| dbSNP |
17 | g.35577373T>A | CA399138327 | PEX12 | c.345A>T (p.Lys115Asn)
| |
17 | g.35577373T>C | CA499903488 | PEX12 | c.345A>G (p.Lys115=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577373T>G | CA399138328 | PEX12 | c.345A>C (p.Lys115Asn)
| |
17 | g.35577373T= | CA2257588024 | PEX12 | c.345A= (p.Lys115=)
| |
17 | g.35577374T>A | CA399138329 | PEX12 | c.344A>T (p.Lys115Ile)
| |
17 | g.35577374T>C | CA399138330 | PEX12 | c.344A>G (p.Lys115Arg)
| |
17 | g.35577374T>G | CA399138331 | PEX12 | c.344A>C (p.Lys115Thr)
| |
17 | g.35577375T>A | CA399138333 | PEX12 | c.343A>T (p.Lys115Ter)
| |
17 | g.35577375T>C | CA399138334 | PEX12 | c.343A>G (p.Lys115Glu)
| gnomAD v4 |
17 | g.35577375T>G | CA399138332 | PEX12 | c.343A>C (p.Lys115Gln)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577375T= | CA2257588026 | PEX12 | c.343A= (p.Lys115=)
| |
17 | g.35577376C>A | CA399138335 | PEX12 | c.342G>T (p.Trp114Cys)
| |
17 | g.35577376C>G | CA399138336 | PEX12 | c.342G>C (p.Trp114Cys)
| |
17 | g.35577376C>T | CA399138337 | PEX12 | c.342G>A (p.Trp114Ter)
| ClinVar dbSNP |
17 | g.35577377C>A | CA399138338 | PEX12 | c.341G>T (p.Trp114Leu)
| |
17 | g.35577377C>G | CA399138339 | PEX12 | c.341G>C (p.Trp114Ser)
| |
17 | g.35577377C>T | CA399138340 | PEX12 | c.341G>A (p.Trp114Ter)
| |
17 | g.35577378A>C | CA399138341 | PEX12 | c.340T>G (p.Trp114Gly)
| |
17 | g.35577378A>G | CA399138342 | PEX12 | c.340T>C (p.Trp114Arg)
| |
17 | g.35577378A>T | CA399138343 | PEX12 | c.340T>A (p.Trp114Arg)
| |
17 | g.35577379A>C | CA499903492 | PEX12 | c.339T>G (p.Leu113=)
| |
17 | g.35577379A>G | CA499903493 | PEX12 | c.339T>C (p.Leu113=)
| |
17 | g.35577379A>T | CA499903491 | PEX12 | c.339T>A (p.Leu113=)
| |
17 | g.35577380A>C | CA399138344 | PEX12 | c.338T>G (p.Leu113Arg)
| |
17 | g.35577380A>G | CA399138345 | PEX12 | c.338T>C (p.Leu113Pro)
| |
17 | g.35577380A>T | CA399138346 | PEX12 | c.338T>A (p.Leu113His)
| |
17 | g.35577381G>A | CA399138349 | PEX12 | c.337C>T (p.Leu113Phe)
| gnomAD v4 |
17 | g.35577381G>C | CA399138347 | PEX12 | c.337C>G (p.Leu113Val)
| |
17 | g.35577381G>T | CA399138348 | PEX12 | c.337C>A (p.Leu113Ile)
| |
17 | g.35577382C>A | CA399138350 | PEX12 | c.336G>T (p.Gln112His)
| |
17 | g.35577382C>G | CA399138351 | PEX12 | c.336G>C (p.Gln112His)
| |
17 | g.35577382C>T | CA499903498 | PEX12 | c.336G>A (p.Gln112=)
| |
17 | g.35577383T>A | CA399138352 | PEX12 | c.335A>T (p.Gln112Leu)
| gnomAD v4 |
17 | g.35577383T>C | CA290069570 | PEX12 | c.335A>G (p.Gln112Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577383T>G | CA399138353 | PEX12 | c.335A>C (p.Gln112Pro)
| |
17 | g.35577383T= | CA2257588028 | PEX12 | c.335A= (p.Gln112=)
| |
17 | g.35577384G>A | CA235963 | PEX12 | c.334C>T (p.Gln112Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577384G>C | CA399138354 | PEX12 | c.334C>G (p.Gln112Glu)
| |
17 | g.35577384G= | CA2257588033 | PEX12 | c.334C= (p.Gln112=)
| |
17 | g.35577384G>T | CA399138355 | PEX12 | c.334C>A (p.Gln112Lys)
| |
17 | g.35577385C>A | CA399138356 | PEX12 | c.333G>T (p.Gln111His)
| |
17 | g.35577385C>G | CA399138357 | PEX12 | c.333G>C (p.Gln111His)
| |
17 | g.35577385C>T | CA499903501 | PEX12 | c.333G>A (p.Gln111=)
| |
17 | g.35577386T>A | CA399138358 | PEX12 | c.332A>T (p.Gln111Leu)
| |
17 | g.35577386T>C | CA399138359 | PEX12 | c.332A>G (p.Gln111Arg)
| |
17 | g.35577386T>G | CA399138360 | PEX12 | c.332A>C (p.Gln111Pro)
| |
17 | g.35577387G>A | CA290069578 | PEX12 | c.331C>T (p.Gln111Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577387G>C | CA399138362 | PEX12 | c.331C>G (p.Gln111Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577387G= | CA2257588035 | PEX12 | c.331C= (p.Gln111=)
| |
17 | g.35577387G>T | CA399138361 | PEX12 | c.331C>A (p.Gln111Lys)
| |
17 | g.35577388C>A | CA399138364 | PEX12 | c.330G>T (p.Lys110Asn)
| |
17 | g.35577388C>G | CA399138363 | PEX12 | c.330G>C (p.Lys110Asn)
| |
17 | g.35577388C>T | CA499903502 | PEX12 | c.330G>A (p.Lys110=)
| |
17 | g.35577389T>A | CA399138365 | PEX12 | c.329A>T (p.Lys110Met)
| |
17 | g.35577389T>C | CA399138366 | PEX12 | c.329A>G (p.Lys110Arg)
| |
17 | g.35577389T>G | CA399138367 | PEX12 | c.329A>C (p.Lys110Thr)
| |
17 | g.35577391dup | CA2695201324 | PEX12 | c.329dup (p.Gln111AlafsTer26)
| ClinVar |
17 | g.35577390T>A | CA399138368 | PEX12 | c.328A>T (p.Lys110Ter)
| |
17 | g.35577390T>C | CA399138369 | PEX12 | c.328A>G (p.Lys110Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577390T>G | CA399138370 | PEX12 | c.328A>C (p.Lys110Gln)
| |
17 | g.35577390T= | CA2257588039 | PEX12 | c.328A= (p.Lys110=)
| |
17 | g.35577391T>A | CA499903506 | PEX12 | c.327A>T (p.Pro109=)
| |
17 | g.35577391T>C | CA499903507 | PEX12 | c.327A>G (p.Pro109=)
| |
17 | g.35577391T>G | CA499903508 | PEX12 | c.327A>C (p.Pro109=)
| |
17 | g.35577391_35577392delinsTG | CA2257588040 | PEX12 | c.326_327delinsCA (p.Pro109=)
| |
17 | g.35577392G>A | CA399138371 | PEX12 | c.326C>T (p.Pro109Leu)
| |
17 | g.35577392G>C | CA399138372 | PEX12 | c.326C>G (p.Pro109Arg)
| |
17 | g.35577392G>T | CA399138373 | PEX12 | c.326C>A (p.Pro109Gln)
| |
17 | g.35577394del | CA2257588042 | PEX12 | c.326del (p.Pro109GlnfsTer18)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577393G>A | CA399138374 | PEX12 | c.325C>T (p.Pro109Ser)
| |
17 | g.35577393G>C | CA399138375 | PEX12 | c.325C>G (p.Pro109Ala)
| dbSNP |
17 | g.35577393G= | CA2257588044 | PEX12 | c.325C= (p.Pro109=)
| |
17 | g.35577393G>T | CA399138376 | PEX12 | c.325C>A (p.Pro109Thr)
| |
17 | g.35577394G>A | CA499903511 | PEX12 | c.324C>T (p.Leu108=)
| ClinVar |
17 | g.35577394G>C | CA499903513 | PEX12 | c.324C>G (p.Leu108=)
| |
17 | g.35577394G>T | CA499903514 | PEX12 | c.324C>A (p.Leu108=)
| |
17 | g.35577395A>C | CA399138379 | PEX12 | c.323T>G (p.Leu108Arg)
| |
17 | g.35577395A>G | CA399138377 | PEX12 | c.323T>C (p.Leu108Pro)
| |
17 | g.35577395A>T | CA399138378 | PEX12 | c.323T>A (p.Leu108His)
| |
17 | g.35577396G>A | CA399138380 | PEX12 | c.322C>T (p.Leu108Phe)
| ClinVar dbSNP |
17 | g.35577396G>C | CA399138381 | PEX12 | c.322C>G (p.Leu108Val)
| |
17 | g.35577396G= | CA2257588047 | PEX12 | c.322C= (p.Leu108=)
| |
17 | g.35577396G>T | CA399138382 | PEX12 | c.322C>A (p.Leu108Ile)
| |
17 | g.35577397A= | CA2257588050 | PEX12 | c.321T= (p.Gly107=)
| |
17 | g.35577397A>C | CA499903517 | PEX12 | c.321T>G (p.Gly107=)
| dbSNP |
17 | g.35577397A>G | CA499903515 | PEX12 | c.321T>C (p.Gly107=)
| ClinVar |
17 | g.35577397A>T | CA499903516 | PEX12 | c.321T>A (p.Gly107=)
| |
17 | g.35577398C>A | CA399138383 | PEX12 | c.320G>T (p.Gly107Val)
| |
17 | g.35577398C>G | CA399138384 | PEX12 | c.320G>C (p.Gly107Ala)
| |
17 | g.35577398C>T | CA399138385 | PEX12 | c.320G>A (p.Gly107Asp)
| |
17 | g.35577399C>A | CA399138386 | PEX12 | c.319G>T (p.Gly107Cys)
| |
17 | g.35577399C= | CA2257588051 | PEX12 | c.319G= (p.Gly107=)
| |
17 | g.35577399C>G | CA8504923 | PEX12 | c.319G>C (p.Gly107Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577399C>T | CA399138387 | PEX12 | c.319G>A (p.Gly107Ser)
| |
17 | g.35577400A= | CA2257588053 | PEX12 | c.318T= (p.Ala106=)
| |
17 | g.35577400A>C | CA499903520 | PEX12 | c.318T>G (p.Ala106=)
| |
17 | g.35577400A>G | CA499903519 | PEX12 | c.318T>C (p.Ala106=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577400A>T | CA499903518 | PEX12 | c.318T>A (p.Ala106=)
| |
17 | g.35577401G>A | CA399138388 | PEX12 | c.317C>T (p.Ala106Val)
| |
17 | g.35577401G>C | CA290069593 | PEX12 | c.317C>G (p.Ala106Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577401G= | CA2257588054 | PEX12 | c.317C= (p.Ala106=)
| |
17 | g.35577401G>T | CA399138389 | PEX12 | c.317C>A (p.Ala106Asp)
| |
17 | g.35577402C>A | CA399138392 | PEX12 | c.316G>T (p.Ala106Ser)
| |
17 | g.35577402C= | CA2257588056 | PEX12 | c.316G= (p.Ala106=)
| |
17 | g.35577402C>G | CA399138391 | PEX12 | c.316G>C (p.Ala106Pro)
| gnomAD v4 |
17 | g.35577402C>T | CA399138390 | PEX12 | c.316G>A (p.Ala106Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577403A= | CA2257588058 | PEX12 | c.315T= (p.Ser105=)
| |
17 | g.35577403A>C | CA399138393 | PEX12 | c.315T>G (p.Ser105Arg)
| |
17 | g.35577403A>G | CA499903521 | PEX12 | c.315T>C (p.Ser105=)
| ClinVar dbSNP |
17 | g.35577403A>T | CA399138394 | PEX12 | c.315T>A (p.Ser105Arg)
| dbSNP |
17 | g.35577404C>A | CA399138395 | PEX12 | c.314G>T (p.Ser105Ile)
| |
17 | g.35577404C= | CA2257588059 | PEX12 | c.314G= (p.Ser105=)
| |
17 | g.35577404C>G | CA399138396 | PEX12 | c.314G>C (p.Ser105Thr)
| gnomAD v4 |
17 | g.35577404C>T | CA399138397 | PEX12 | c.314G>A (p.Ser105Asn)
| dbSNP gnomAD v2 |
17 | g.35577405T>A | CA399138398 | PEX12 | c.313A>T (p.Ser105Cys)
| |
17 | g.35577405T>C | CA399138399 | PEX12 | c.313A>G (p.Ser105Gly)
| |
17 | g.35577405T>G | CA399138400 | PEX12 | c.313A>C (p.Ser105Arg)
| gnomAD v4 |
17 | g.35577406A>C | CA499903525 | PEX12 | c.312T>G (p.Ala104=)
| |
17 | g.35577406A>G | CA499903526 | PEX12 | c.312T>C (p.Ala104=)
| |
17 | g.35577406A>T | CA499903527 | PEX12 | c.312T>A (p.Ala104=)
| |
17 | g.35577407G>A | CA399138401 | PEX12 | c.311C>T (p.Ala104Val)
| |
17 | g.35577407G>C | CA399138402 | PEX12 | c.311C>G (p.Ala104Gly)
| COSMIC |
17 | g.35577407G>T | CA399138403 | PEX12 | c.311C>A (p.Ala104Asp)
| |
17 | g.35577408C>A | CA399138404 | PEX12 | c.310G>T (p.Ala104Ser)
| |
17 | g.35577408C>G | CA399138405 | PEX12 | c.310G>C (p.Ala104Pro)
| |
17 | g.35577408C>T | CA399138406 | PEX12 | c.310G>A (p.Ala104Thr)
| |
17 | g.35577411_35577437dup | CA983271485 | PEX12 | c.284_310dup (p.Leu103_Ala104insGlyAspThrHisLysSerGlnArgLeu)
| gnomAD v3 gnomAD v4 |
17 | g.35577409C>A | CA399138408 | PEX12 | c.309G>T (p.Leu103Phe)
| |
17 | g.35577409C= | CA2257588061 | PEX12 | c.309G= (p.Leu103=)
| |
17 | g.35577409C>G | CA399138407 | PEX12 | c.309G>C (p.Leu103Phe)
| |
17 | g.35577409C>T | CA499903530 | PEX12 | c.309G>A (p.Leu103=)
| |
17 | g.35577410A= | CA2257588063 | PEX12 | c.308T= (p.Leu103=)
| |
17 | g.35577410A>C | CA399138409 | PEX12 | c.308T>G (p.Leu103Trp)
| dbSNP gnomAD v4 |
17 | g.35577410A>G | CA399138410 | PEX12 | c.308T>C (p.Leu103Ser)
| |
17 | g.35577410A>T | CA399138411 | PEX12 | c.308T>A (p.Leu103Ter)
| |
17 | g.35577411dup | CA290069598 | PEX12 | c.308dup (p.Leu103PhefsTer3)
| ClinVar dbSNP |
17 | g.35577411A= | CA2257588067 | PEX12 | c.307T= (p.Leu103=)
| |
17 | g.35577411A>C | CA399138412 | PEX12 | c.307T>G (p.Leu103Val)
| |
17 | g.35577411A>G | CA8504924 | PEX12 | c.307T>C (p.Leu103=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577411A>T | CA399138413 | PEX12 | c.307T>A (p.Leu103Met)
| |
17 | g.35577412T>A | CA8504925 | PEX12 | c.306A>T (p.Arg102Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577412T>C | CA499903532 | PEX12 | c.306A>G (p.Arg102=)
| |
17 | g.35577412T>G | CA399138414 | PEX12 | c.306A>C (p.Arg102Ser)
| gnomAD v4 |
17 | g.35577412T= | CA2257588070 | PEX12 | c.306A= (p.Arg102=)
| |
17 | g.35577415_35577416del | CA2580613432 | PEX12 | c.305_306del (p.Arg102IlefsTer3)
| ClinVar dbSNP |
17 | g.35577413C>A | CA399138415 | PEX12 | c.305G>T (p.Arg102Ile)
| COSMIC |
17 | g.35577413C= | CA2257588072 | PEX12 | c.305G= (p.Arg102=)
| |
17 | g.35577413C>G | CA399138416 | PEX12 | c.305G>C (p.Arg102Thr)
| ClinVar dbSNP |
17 | g.35577413C>T | CA399138417 | PEX12 | c.305G>A (p.Arg102Lys)
| |
17 | g.35577414T>A | CA399138418 | PEX12 | c.304A>T (p.Arg102Ter)
| |
17 | g.35577414T>C | CA399138419 | PEX12 | c.304A>G (p.Arg102Gly)
| |
17 | g.35577414T>G | CA499903533 | PEX12 | c.304A>C (p.Arg102=)
| |
17 | g.35577415C>A | CA399138420 | PEX12 | c.303G>T (p.Gln101His)
| |
17 | g.35577415C= | CA2257588074 | PEX12 | c.303G= (p.Gln101=)
| |
17 | g.35577415C>G | CA399138421 | PEX12 | c.303G>C (p.Gln101His)
| |
17 | g.35577415C>T | CA8504926 | PEX12 | c.303G>A (p.Gln101=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577415_35577417delinsCTG | CA2257588075 | PEX12 | c.301_303delinsCAG (p.Gln101=)
| |
17 | g.35577416T>A | CA399138422 | PEX12 | c.302A>T (p.Gln101Leu)
| |
17 | g.35577416T>C | CA399138424 | PEX12 | c.302A>G (p.Gln101Arg)
| ClinVar dbSNP |
17 | g.35577416T>G | CA399138423 | PEX12 | c.302A>C (p.Gln101Pro)
| |
17 | g.35577416T= | CA2257588077 | PEX12 | c.302A= (p.Gln101=)
| |
17 | g.35577416_35577417del | CA626205334 | PEX12 | c.301_302del (p.Gln101GlufsTer4)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577417G>A | CA399138425 | PEX12 | c.301C>T (p.Gln101Ter)
| |
17 | g.35577417G>C | CA399138427 | PEX12 | c.301C>G (p.Gln101Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577417G= | CA2257588079 | PEX12 | c.301C= (p.Gln101=)
| |
17 | g.35577417G>T | CA399138426 | PEX12 | c.301C>A (p.Gln101Lys)
| |
17 | g.35577418A>C | CA499903534 | PEX12 | c.300T>G (p.Ser100=)
| |
17 | g.35577418A>G | CA499903535 | PEX12 | c.300T>C (p.Ser100=)
| |
17 | g.35577418A>T | CA499903536 | PEX12 | c.300T>A (p.Ser100=)
| |
17 | g.35577419G>A | CA399138428 | PEX12 | c.299C>T (p.Ser100Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577419G>C | CA399138430 | PEX12 | c.299C>G (p.Ser100Cys)
| |
17 | g.35577419G= | CA2257588081 | PEX12 | c.299C= (p.Ser100=)
| |
17 | g.35577419G>T | CA399138429 | PEX12 | c.299C>A (p.Ser100Tyr)
| gnomAD v4 |
17 | g.35577420A>C | CA399138431 | PEX12 | c.298T>G (p.Ser100Ala)
| gnomAD v4 |
17 | g.35577420A>G | CA399138432 | PEX12 | c.298T>C (p.Ser100Pro)
| |
17 | g.35577420A>T | CA399138433 | PEX12 | c.298T>A (p.Ser100Thr)
| |
17 | g.35577421C>A | CA399138434 | PEX12 | c.297G>T (p.Lys99Asn)
| |
17 | g.35577421C>G | CA399138435 | PEX12 | c.297G>C (p.Lys99Asn)
| |
17 | g.35577421C>T | CA499903537 | PEX12 | c.297G>A (p.Lys99=)
| |
17 | g.35577422T>A | CA399138436 | PEX12 | c.296A>T (p.Lys99Met)
| |
17 | g.35577422T>C | CA399138437 | PEX12 | c.296A>G (p.Lys99Arg)
| |
17 | g.35577422T>G | CA399138438 | PEX12 | c.296A>C (p.Lys99Thr)
| |
17 | g.35577423T>A | CA399138439 | PEX12 | c.295A>T (p.Lys99Ter)
| |
17 | g.35577423T>C | CA290069615 | PEX12 | c.295A>G (p.Lys99Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577423T>G | CA399138440 | PEX12 | c.295A>C (p.Lys99Gln)
| |
17 | g.35577423T= | CA2257588083 | PEX12 | c.295A= (p.Lys99=)
| |
17 | g.35577424G>A | CA499903539 | PEX12 | c.294C>T (p.His98=)
| gnomAD v4 |
17 | g.35577424G>C | CA399138441 | PEX12 | c.294C>G (p.His98Gln)
| |
17 | g.35577424G= | CA2257561969 | PEX12 | c.294C= (p.His98=)
| |
17 | g.35577424G>T | CA8504927 | PEX12 | c.294C>A (p.His98Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577425T>A | CA399138442 | PEX12 | c.293A>T (p.His98Leu)
| |
17 | g.35577425T>C | CA399138444 | PEX12 | c.293A>G (p.His98Arg)
| dbSNP |
17 | g.35577425T>G | CA399138443 | PEX12 | c.293A>C (p.His98Pro)
| |
17 | g.35577425T= | CA2257561970 | PEX12 | c.293A= (p.His98=)
| |
17 | g.35577426G>A | CA8504928 | PEX12 | c.292C>T (p.His98Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577426G>C | CA399138445 | PEX12 | c.292C>G (p.His98Asp)
| |
17 | g.35577426G= | CA2257561971 | PEX12 | c.292C= (p.His98=)
| |
17 | g.35577426G>T | CA399138446 | PEX12 | c.292C>A (p.His98Asn)
| |
17 | g.35577427A= | CA2257561972 | PEX12 | c.291T= (p.Thr97=)
| |
17 | g.35577427A>C | CA499903543 | PEX12 | c.291T>G (p.Thr97=)
| ClinVar gnomAD v4 |
17 | g.35577427A>G | CA8504929 | PEX12 | c.291T>C (p.Thr97=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577427A>T | CA499903544 | PEX12 | c.291T>A (p.Thr97=)
| |
17 | g.35577428G>A | CA399138447 | PEX12 | c.290C>T (p.Thr97Ile)
| |
17 | g.35577428G>C | CA8504930 | PEX12 | c.290C>G (p.Thr97Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577428G= | CA2257561973 | PEX12 | c.290C= (p.Thr97=)
| |
17 | g.35577428G>T | CA399138448 | PEX12 | c.290C>A (p.Thr97Asn)
| |
17 | g.35577429T>A | CA399138449 | PEX12 | c.289A>T (p.Thr97Ser)
| dbSNP |
17 | g.35577429T>C | CA399138450 | PEX12 | c.289A>G (p.Thr97Ala)
| |
17 | g.35577429T>G | CA399138451 | PEX12 | c.289A>C (p.Thr97Pro)
| |
17 | g.35577429T= | CA2257561974 | PEX12 | c.289A= (p.Thr97=)
| |
17 | g.35577430G>A | CA499903545 | PEX12 | c.288C>T (p.Asp96=)
| ClinVar dbSNP |
17 | g.35577430G>C | CA399138452 | PEX12 | c.288C>G (p.Asp96Glu)
| |
17 | g.35577430G= | CA2257561975 | PEX12 | c.288C= (p.Asp96=)
| |
17 | g.35577430G>T | CA399138453 | PEX12 | c.288C>A (p.Asp96Glu)
| |
17 | g.35577431T>A | CA399138454 | PEX12 | c.287A>T (p.Asp96Val)
| |
17 | g.35577431T>C | CA399138455 | PEX12 | c.287A>G (p.Asp96Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577431T>G | CA399138456 | PEX12 | c.287A>C (p.Asp96Ala)
| |
17 | g.35577432C>A | CA399138457 | PEX12 | c.286G>T (p.Asp96Tyr)
| dbSNP gnomAD v4 |
17 | g.35577432C= | CA2257561976 | PEX12 | c.286G= (p.Asp96=)
| |
17 | g.35577432C>G | CA399138458 | PEX12 | c.286G>C (p.Asp96His)
| |
17 | g.35577432C>T | CA399138459 | PEX12 | c.286G>A (p.Asp96Asn)
| gnomAD v4 |
17 | g.35577436del | CA2580093612 | PEX12 | c.286del (p.Asp96ThrfsTer?)
| ClinVar |
17 | g.35577433C>A | CA499903547 | PEX12 | c.285G>T (p.Gly95=)
| |
17 | g.35577433C= | CA2257561977 | PEX12 | c.285G= (p.Gly95=)
| |
17 | g.35577433C>G | CA499903548 | PEX12 | c.285G>C (p.Gly95=)
| |
17 | g.35577433C>T | CA499903549 | PEX12 | c.285G>A (p.Gly95=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577434C>A | CA399138460 | PEX12 | c.284G>T (p.Gly95Val)
| |
17 | g.35577434C>G | CA399138461 | PEX12 | c.284G>C (p.Gly95Ala)
| |
17 | g.35577434C>T | CA399138462 | PEX12 | c.284G>A (p.Gly95Glu)
| |
17 | g.35577435C>A | CA399138463 | PEX12 | c.283G>T (p.Gly95Trp)
| |
17 | g.35577435C>G | CA399138464 | PEX12 | c.283G>C (p.Gly95Arg)
| |
17 | g.35577435C>T | CA399138465 | PEX12 | c.283G>A (p.Gly95Arg)
| |
17 | g.35577436C>A | CA399138467 | PEX12 | c.282G>T (p.Met94Ile)
| |
17 | g.35577436C= | CA2257561978 | PEX12 | c.282G= (p.Met94=)
| |
17 | g.35577436C>G | CA399138466 | PEX12 | c.282G>C (p.Met94Ile)
| |
17 | g.35577436C>T | CA8504931 | PEX12 | c.282G>A (p.Met94Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.35577437A>C | CA399138468 | PEX12 | c.281T>G (p.Met94Arg)
| |
17 | g.35577437A>G | CA399138469 | PEX12 | c.281T>C (p.Met94Thr)
| |
17 | g.35577437A>T | CA399138470 | PEX12 | c.281T>A (p.Met94Lys)
| |
17 | g.35577438T>A | CA399138471 | PEX12 | c.280A>T (p.Met94Leu)
| gnomAD v4 |
17 | g.35577438T>C | CA399138472 | PEX12 | c.280A>G (p.Met94Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577438T>G | CA399138473 | PEX12 | c.280A>C (p.Met94Leu)
| |
17 | g.35577438T= | CA2257561979 | PEX12 | c.280A= (p.Met94=)
| |
17 | g.35577439T>A | CA499903568 | PEX12 | c.279A>T (p.Val93=)
| |
17 | g.35577439T>C | CA499903567 | PEX12 | c.279A>G (p.Val93=)
| |
17 | g.35577439T>G | CA499903566 | PEX12 | c.279A>C (p.Val93=)
| gnomAD v4 |
17 | g.35577440A= | CA2257561980 | PEX12 | c.278T= (p.Val93=)
| |
17 | g.35577440A>C | CA8504932 | PEX12 | c.278T>G (p.Val93Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577440A>G | CA399138474 | PEX12 | c.278T>C (p.Val93Ala)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577440A>T | CA399138475 | PEX12 | c.278T>A (p.Val93Glu)
| |
17 | g.35577441C>A | CA399138476 | PEX12 | c.277G>T (p.Val93Leu)
| gnomAD v4 |
17 | g.35577441C= | CA2257561981 | PEX12 | c.277G= (p.Val93=)
| |
17 | g.35577441C>G | CA399138477 | PEX12 | c.277G>C (p.Val93Leu)
| |
17 | g.35577441C>T | CA399138478 | PEX12 | c.277G>A (p.Val93Ile)
| dbSNP |
17 | g.35577442A= | CA2257561982 | PEX12 | c.276T= (p.Ile92=)
| |
17 | g.35577442A>C | CA399138479 | PEX12 | c.276T>G (p.Ile92Met)
| |
17 | g.35577442A>G | CA499903569 | PEX12 | c.276T>C (p.Ile92=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.35577442A>T | CA499903571 | PEX12 | c.276T>A (p.Ile92=)
| |
17 | g.35577443A>C | CA399138481 | PEX12 | c.275T>G (p.Ile92Ser)
| |
17 | g.35577443A>G | CA399138480 | PEX12 | c.275T>C (p.Ile92Thr)
| gnomAD v4 |
17 | g.35577443A>T | CA399138482 | PEX12 | c.275T>A (p.Ile92Asn)
| |
17 | g.35577444T>A | CA399138483 | PEX12 | c.274A>T (p.Ile92Phe)
| |
17 | g.35577444T>C | CA399138484 | PEX12 | c.274A>G (p.Ile92Val)
| gnomAD v4 |
17 | g.35577444T>G | CA399138485 | PEX12 | c.274A>C (p.Ile92Leu)
| |
17 | g.35577445T>A | CA119068 | PEX12 | c.273A>T (p.Arg91Ser)
| ClinVar dbSNP |
17 | g.35577445T>C | CA499903576 | PEX12 | c.273A>G (p.Arg91=)
| ClinVar |
17 | g.35577445T>G | CA399138486 | PEX12 | c.273A>C (p.Arg91Ser)
| |
17 | g.35577445T= | CA2257561983 | PEX12 | c.273A= (p.Arg91=)
| |
17 | g.35577446C>A | CA399138487 | PEX12 | c.272G>T (p.Arg91Ile)
| gnomAD v4 |
17 | g.35577446C>G | CA399138488 | PEX12 | c.272G>C (p.Arg91Thr)
| ClinVar dbSNP |
17 | g.35577446C>T | CA399138489 | PEX12 | c.272G>A (p.Arg91Lys)
| gnomAD v4 |
17 | g.35577446_35577450delinsCTCTT | CA2257561984 | PEX12 | c.268_272delinsAAGAG (p.Lys90=)
| |
17 | g.35577447T>A | CA399138490 | PEX12 | c.271A>T (p.Arg91Ter)
| |
17 | g.35577447T>C | CA399138491 | PEX12 | c.271A>G (p.Arg91Gly)
| |
17 | g.35577447T>G | CA499903580 | PEX12 | c.271A>C (p.Arg91=)
| ClinVar dbSNP |
17 | g.35577447T= | CA2257561985 | PEX12 | c.271A= (p.Arg91=)
| |
17 | g.35577448_35577451del | CA8504933 | PEX12 | c.268_271del (p.Lys90GlufsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.35577448C>A | CA399138492 | PEX12 | c.270G>T (p.Lys90Asn)
| |
17 | g.35577448C>G | CA399138493 | PEX12 | c.270G>C (p.Lys90Asn)
| |
17 | g.35577448C>T | CA499903584 | PEX12 | c.270G>A (p.Lys90=)
| |
17 | g.35577449T>A | CA399138494 | PEX12 | c.269A>T (p.Lys90Met)
| |
17 | g.35577449T>C | CA399138496 | PEX12 | c.269A>G (p.Lys90Arg)
| |
17 | g.35577449T>G | CA399138495 | PEX12 | c.269A>C (p.Lys90Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.35577449T= | CA2257561986 | PEX12 | c.269A= (p.Lys90=)
| |
17 | g.35577450_35577451del | CA2576233679 | PEX12 | c.268_269del (p.Lys90GlufsTer15)
| ClinVar gnomAD v4 |
17 | g.35577450T>A | CA399138497 | PEX12 | c.268A>T (p.Lys90Ter)
| |
17 | g.35577450T>C | CA399138498 | PEX12 | c.268A>G (p.Lys90Glu)
| |
17 | g.35577450T>G | CA399138499 | PEX12 | c.268A>C (p.Lys90Gln)
| |