| 17 | g.35576161G>A | CA399137553 | PEX12 | c.701C>T (p.Ser234Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.35576161G>C | CA399137555 | PEX12 | c.701C>G (p.Ser234Ter)
| |
| 17 | g.35576161G= | CA2257586884 | PEX12 | c.701C= (p.Ser234=)
| |
| 17 | g.35576161G>T | CA399137554 | PEX12 | c.701C>A (p.Ser234Ter)
| |
| 17 | g.35576162A>C | CA399137556 | PEX12 | c.700T>G (p.Ser234Ala)
| |
| 17 | g.35576162A>G | CA399137557 | PEX12 | c.700T>C (p.Ser234Pro)
| |
| 17 | g.35576162A>T | CA399137558 | PEX12 | c.700T>A (p.Ser234Thr)
| |
| 17 | g.35576163G>A | CA499795131 | PEX12 | c.699C>T (p.Asn233=)
| ClinVar dbSNP |
| 17 | g.35576163G>C | CA399137559 | PEX12 | c.699C>G (p.Asn233Lys)
| dbSNP |
| 17 | g.35576163G>T | CA399137560 | PEX12 | c.699C>A (p.Asn233Lys)
| |
| 17 | g.35576164T>A | CA399137561 | PEX12 | c.698A>T (p.Asn233Ile)
| |
| 17 | g.35576164T>C | CA399137562 | PEX12 | c.698A>G (p.Asn233Ser)
| |
| 17 | g.35576164T>G | CA399137563 | PEX12 | c.698A>C (p.Asn233Thr)
| |
| 17 | g.35576166dup | CA2739267446 | PEX12 | c.698dup (p.Asn233LysfsTer30)
| ClinVar |
| 17 | g.35576165T>A | CA399137564 | PEX12 | c.697A>T (p.Asn233Tyr)
| |
| 17 | g.35576165T>C | CA399137565 | PEX12 | c.697A>G (p.Asn233Asp)
| |
| 17 | g.35576165T>G | CA399137566 | PEX12 | c.697A>C (p.Asn233His)
| COSMIC |
| 17 | g.35576166T>A | CA499795132 | PEX12 | c.696A>T (p.Ile232=)
| |
| 17 | g.35576166T>C | CA399137567 | PEX12 | c.696A>G (p.Ile232Met)
| dbSNP gnomAD v4 |
| 17 | g.35576166T>G | CA499795133 | PEX12 | c.696A>C (p.Ile232=)
| |
| 17 | g.35576166T= | CA2257586887 | PEX12 | c.696A= (p.Ile232=)
| |
| 17 | g.35576167A>C | CA399137570 | PEX12 | c.695T>G (p.Ile232Arg)
| gnomAD v4 |
| 17 | g.35576167A>G | CA399137569 | PEX12 | c.695T>C (p.Ile232Thr)
| gnomAD v4 |
| 17 | g.35576167A>T | CA399137568 | PEX12 | c.695T>A (p.Ile232Lys)
| |
| 17 | g.35576168T>A | CA399137571 | PEX12 | c.694A>T (p.Ile232Leu)
| |
| 17 | g.35576168T>C | CA399137572 | PEX12 | c.694A>G (p.Ile232Val)
| gnomAD v4 |
| 17 | g.35576168T>G | CA399137573 | PEX12 | c.694A>C (p.Ile232Leu)
| |
| 17 | g.35576169C>A | CA399137574 | PEX12 | c.693G>T (p.Lys231Asn)
| gnomAD v4 |
| 17 | g.35576169C= | CA2257586891 | PEX12 | c.693G= (p.Lys231=)
| |
| 17 | g.35576169C>G | CA399137575 | PEX12 | c.693G>C (p.Lys231Asn)
| |
| 17 | g.35576169C>T | CA290068487 | PEX12 | c.693G>A (p.Lys231=)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.35576170T>A | CA399137576 | PEX12 | c.692A>T (p.Lys231Met)
| |
| 17 | g.35576170T>C | CA399137577 | PEX12 | c.692A>G (p.Lys231Arg)
| |
| 17 | g.35576170T>G | CA399137578 | PEX12 | c.692A>C (p.Lys231Thr)
| |
| 17 | g.35576171T>A | CA119063 | PEX12 | c.691A>T (p.Lys231Ter)
| ClinVar dbSNP |
| 17 | g.35576171T>C | CA399137579 | PEX12 | c.691A>G (p.Lys231Glu)
| |
| 17 | g.35576171T>G | CA399137580 | PEX12 | c.691A>C (p.Lys231Gln)
| |
| 17 | g.35576171T= | CA2257586897 | PEX12 | c.691A= (p.Lys231=)
| |
| 17 | g.35576171_35576175del | CA913002653 | PEX12 | c.687_691del (p.Ser229ArgfsTer?)
| |
| 17 | g.35576171_35576175delinsTCTCA | CA2257586898 | PEX12 | c.687_691delinsTGAGA (p.Ser229=)
| |
| 17 | g.35576172C>A | CA399137581 | PEX12 | c.690G>T (p.Glu230Asp)
| |
| 17 | g.35576172C>G | CA399137582 | PEX12 | c.690G>C (p.Glu230Asp)
| |
| 17 | g.35576172C>T | CA499795134 | PEX12 | c.690G>A (p.Glu230=)
| |
| 17 | g.35576174_35576177del | CA658824204 | PEX12 | c.687_690del (p.Ser229ArgfsTer3)
| ClinVar dbSNP |
| 17 | g.35576173T>A | CA399137584 | PEX12 | c.689A>T (p.Glu230Val)
| |
| 17 | g.35576173T>C | CA399137585 | PEX12 | c.689A>G (p.Glu230Gly)
| |
| 17 | g.35576173T>G | CA399137583 | PEX12 | c.689A>C (p.Glu230Ala)
| |
| 17 | g.35576174C>A | CA399137586 | PEX12 | c.688G>T (p.Glu230Ter)
| |
| 17 | g.35576174C= | CA2257586905 | PEX12 | c.688G= (p.Glu230=)
| |
| 17 | g.35576174C>G | CA399137587 | PEX12 | c.688G>C (p.Glu230Gln)
| |
| 17 | g.35576174C>T | CA290068489 | PEX12 | c.688G>A (p.Glu230Lys)
| ClinVar dbSNP COSMIC |
| 17 | g.35576174_35576178delinsCACTA | CA2257586908 | PEX12 | c.684_688delinsTAGTG (p.Val228=)
| |
| 17 | g.35576175A>C | CA399137588 | PEX12 | c.687T>G (p.Ser229Arg)
| gnomAD v4 |
| 17 | g.35576175A>G | CA499795135 | PEX12 | c.687T>C (p.Ser229=)
| gnomAD v4 |
| 17 | g.35576175A>T | CA399137589 | PEX12 | c.687T>A (p.Ser229Arg)
| gnomAD v4 |
| 17 | g.35576177_35576180del | CA8504856 | PEX12 | c.684_687del (p.Ser229ArgfsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35576176C>A | CA399137590 | PEX12 | c.686G>T (p.Ser229Ile)
| |
| 17 | g.35576176C= | CA2257586916 | PEX12 | c.686G= (p.Ser229=)
| |
| 17 | g.35576176C>G | CA399137591 | PEX12 | c.686G>C (p.Ser229Thr)
| |
| 17 | g.35576176C>T | CA399137592 | PEX12 | c.686G>A (p.Ser229Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576177T>A | CA399137595 | PEX12 | c.685A>T (p.Ser229Cys)
| |
| 17 | g.35576177T>C | CA399137594 | PEX12 | c.685A>G (p.Ser229Gly)
| |
| 17 | g.35576177T>G | CA399137593 | PEX12 | c.685A>C (p.Ser229Arg)
| |
| 17 | g.35576178A>C | CA499795136 | PEX12 | c.684T>G (p.Val228=)
| |
| 17 | g.35576178A>G | CA499795137 | PEX12 | c.684T>C (p.Val228=)
| ClinVar gnomAD v4 |
| 17 | g.35576178A>T | CA499795138 | PEX12 | c.684T>A (p.Val228=)
| |
| 17 | g.35576179A>C | CA399137596 | PEX12 | c.683T>G (p.Val228Gly)
| |
| 17 | g.35576179A>G | CA399137597 | PEX12 | c.683T>C (p.Val228Ala)
| |
| 17 | g.35576179A>T | CA399137598 | PEX12 | c.683T>A (p.Val228Asp)
| |
| 17 | g.35576180C>A | CA399137599 | PEX12 | c.682G>T (p.Val228Phe)
| |
| 17 | g.35576180C>G | CA399137600 | PEX12 | c.682G>C (p.Val228Leu)
| |
| 17 | g.35576180C>T | CA399137601 | PEX12 | c.682G>A (p.Val228Ile)
| |
| 17 | g.35576181A>C | CA399137602 | PEX12 | c.681T>G (p.Ser227Arg)
| |
| 17 | g.35576181A>G | CA499795139 | PEX12 | c.681T>C (p.Ser227=)
| |
| 17 | g.35576181A>T | CA399137603 | PEX12 | c.681T>A (p.Ser227Arg)
| |
| 17 | g.35576182C>A | CA399137604 | PEX12 | c.681-1G>T (n.681-1G>T)
| |
| 17 | g.35576182C= | CA2257586918 | PEX12 | c.681-1G= (n.681-1G=)
| |
| 17 | g.35576182C>G | CA399137605 | PEX12 | c.681-1G>C (n.681-1G>C)
| |
| 17 | g.35576182C>T | CA399137606 | PEX12 | c.681-1G>A (n.681-1G>A)
| dbSNP gnomAD v4 |
| 17 | g.35576182_35576184delinsCTG | CA2257586917 | PEX12 | c.681-3_681-1delinsCAG (n.681-3_681-1delinsCAG)
| |
| 17 | g.35576183T>A | CA399137608 | PEX12 | c.681-2A>T (n.681-2A>T)
| |
| 17 | g.35576183T>C | CA399137607 | PEX12 | c.681-2A>G (n.681-2A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576183T>G | CA8504857 | PEX12 | c.681-2A>C (n.681-2A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576183T= | CA2257586924 | PEX12 | c.681-2A= (n.681-2A=)
| |
| 17 | g.35576184_35576185del | CA145998 | PEX12 | c.681-3_681-2del (n.681-3_681-2del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576184G>A | CA2637282707 | PEX12 | c.681-3C>T (n.681-3C>T)
| gnomAD v4 |
| 17 | g.35576184_35576186delinsGTT | CA2257586927 | PEX12 | c.681-5_681-3delinsAAC (n.681-5_681-3delinsAAC)
| |
| 17 | g.35576185T>C | CA2257586930 | PEX12 | c.681-4A>G (n.681-4A>G)
| dbSNP gnomAD v4 |
| 17 | g.35576185T= | CA2257586929 | PEX12 | c.681-4A= (n.681-4A=)
| |
| 17 | g.35576185_35576186del | CA983287403 | PEX12 | c.681-5_681-4del (n.681-5_681-4del)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576186T>G | CA2580093582 | PEX12 | c.681-5A>C (n.681-5A>C)
| ClinVar |
| 17 | g.35576186T= | CA2257586932 | PEX12 | c.681-5A= (n.681-5A=)
| |
| 17 | g.35576187G>T | CA2576233638 | PEX12 | c.681-6C>A (n.681-6C>A)
| |
| 17 | g.35576189dup | CA625820372 | PEX12 | c.681-6dup (n.681-6dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576189G= | CA2257586937 | PEX12 | c.681-8C= (n.681-8C=)
| |
| 17 | g.35576189G>T | CA2257586940 | PEX12 | c.681-8C>A (n.681-8C>A)
| dbSNP |
| 17 | g.35576192A= | CA2257586941 | PEX12 | c.681-11T= (n.681-11T=)
| |
| 17 | g.35576192A>G | CA983287408 | PEX12 | c.681-11T>C (n.681-11T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576193_35576196delinsAAAG | CA2257586943 | PEX12 | c.681-15_681-12delinsCTTT (n.681-15_681-12delinsCTTT)
| |
| 17 | g.35576196_35576198del | CA625820373 | PEX12 | c.681-15_681-13del (n.681-15_681-13del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.35576196G>C | CA8504858 | PEX12 | c.681-15C>G (n.681-15C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576196G= | CA2257586945 | PEX12 | c.681-15C= (n.681-15C=)
| |
| 17 | g.35576199C>G | CA2637282709 | PEX12 | c.681-18G>C (n.681-18G>C)
| gnomAD v4 |
| 17 | g.35576200A>G | CA2637282710 | PEX12 | c.681-19T>C (n.681-19T>C)
| gnomAD v4 |
| 17 | g.35576200_35576202del | CA2573153718 | PEX12 | c.681-21_681-19del (n.681-21_681-19del)
| ClinVar dbSNP gnomAD v4 |
| 17 | g.35576201_35576202delinsAG | CA2257586948 | PEX12 | c.681-21_681-20delinsCT (n.681-21_681-20delinsCT)
| |
| 17 | g.35576202G>C | CA2637282711 | PEX12 | c.681-21C>G (n.681-21C>G)
| gnomAD v4 |
| 17 | g.35576203del | CA2257586949 | PEX12 | c.681-21del (n.681-21del)
| dbSNP |
| 17 | g.35576205G>A | CA2637282712 | PEX12 | c.681-24C>T (n.681-24C>T)
| gnomAD v4 |
| 17 | g.35576206G>A | CA2512741514 | PEX12 | c.681-25C>T (n.681-25C>T)
| |
| 17 | g.35576209A>G | CA2576233639 | PEX12 | c.681-28T>C (n.681-28T>C)
| |
| 17 | g.35576209_35576211delinsAAG | CA2257586951 | PEX12 | c.681-30_681-28delinsCTT (n.681-30_681-28delinsCTT)
| |
| 17 | g.35576215_35576216del | CA2257586953 | PEX12 | c.681-30_681-29del (n.681-30_681-29del)
| dbSNP gnomAD v4 |
| 17 | g.35576211G>A | CA8504859 | PEX12 | c.681-30C>T (n.681-30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576211G>C | CA2576233640 | PEX12 | c.681-30C>G (n.681-30C>G)
| |
| 17 | g.35576211G= | CA2257586954 | PEX12 | c.681-30C= (n.681-30C=)
| |
| 17 | g.35576211G>T | CA2637282713 | PEX12 | c.681-30C>A (n.681-30C>A)
| gnomAD v4 |
| 17 | g.35576212A= | CA2257586957 | PEX12 | c.681-31T= (n.681-31T=)
| |
| 17 | g.35576212A>C | CA625820374 | PEX12 | c.681-31T>G (n.681-31T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.35576213G>C | CA8504860 | PEX12 | c.681-32C>G (n.681-32C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576213G= | CA2257586959 | PEX12 | c.681-32C= (n.681-32C=)
| |
| 17 | g.35576213G>T | CA2637282714 | PEX12 | c.681-32C>A (n.681-32C>A)
| gnomAD v4 |
| 17 | g.35576215G>A | CA625820375 | PEX12 | c.681-34C>T (n.681-34C>T)
| dbSNP gnomAD v2 |
| 17 | g.35576215G>C | CA8504861 | PEX12 | c.681-34C>G (n.681-34C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35576215G= | CA2257586961 | PEX12 | c.681-34C= (n.681-34C=)
| |
| 17 | g.35576218_35576219delinsAC | CA2257586964 | PEX12 | c.681-38_681-37delinsGT (n.681-38_681-37delinsGT)
| |
| 17 | g.35576219del | CA8504862 | PEX12 | c.681-38del (n.681-38del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35576219C= | CA2257586970 | PEX12 | c.681-38G= (n.681-38G=)
| |
| 17 | g.35576219C>T | CA625820376 | PEX12 | c.681-38G>A (n.681-38G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576219_35576221delinsCTT | CA2257586968 | PEX12 | c.681-40_681-38delinsAAG (n.681-40_681-38delinsAAG)
| |
| 17 | g.35576219_35576223delinsCTTTA | CA2257586967 | PEX12 | c.681-42_681-38delinsTAAAG (n.681-42_681-38delinsTAAAG)
| |
| 17 | g.35576221_35576222del | CA8504863 | PEX12 | c.681-40_681-39del (n.681-40_681-39del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576224_35576227del | CA8504864 | PEX12 | c.681-42_681-39del (n.681-42_681-39del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576222T>C | CA728429030 | PEX12 | c.681-41A>G (n.681-41A>G)
| dbSNP gnomAD v4 |
| 17 | g.35576222T= | CA2257586974 | PEX12 | c.681-41A= (n.681-41A=)
| |
| 17 | g.35576223A= | CA2257586976 | PEX12 | c.681-42T= (n.681-42T=)
| |
| 17 | g.35576223A>G | CA2257586977 | PEX12 | c.681-42T>C (n.681-42T>C)
| dbSNP |
| 17 | g.35576223A>T | CA728429036 | PEX12 | c.681-42T>A (n.681-42T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576226del | CA2576233641 | PEX12 | c.681-43del (n.681-43del)
| |
| 17 | g.35576226T>C | CA625820377 | PEX12 | c.681-45A>G (n.681-45A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576226T= | CA2257586979 | PEX12 | c.681-45A= (n.681-45A=)
| |
| 17 | g.35576228G>A | CA8504865 | PEX12 | c.681-47C>T (n.681-47C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35576228G= | CA2257586982 | PEX12 | c.681-47C= (n.681-47C=)
| |
| 17 | g.35576229G>A | CA2637282719 | PEX12 | c.681-48C>T (n.681-48C>T)
| gnomAD v4 |
| 17 | g.35576229G>C | CA2809305330 | PEX12 | c.681-48C>G (n.681-48C>G)
| |
| 17 | g.35576229G>T | CA2637282720 | PEX12 | c.681-48C>A (n.681-48C>A)
| gnomAD v4 |
| 17 | g.35576230T>C | CA2576233642 | PEX12 | c.681-49A>G (n.681-49A>G)
| |
| 17 | g.35576231A>G | CA2516391599 | PEX12 | c.681-50T>C (n.681-50T>C)
| gnomAD v4 |
| 17 | g.35576233C= | CA2257586984 | PEX12 | c.681-52G= (n.681-52G=)
| |
| 17 | g.35576233C>T | CA8504866 | PEX12 | c.681-52G>A (n.681-52G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.35576234A= | CA2257586986 | PEX12 | c.681-53T= (n.681-53T=)
| |
| 17 | g.35576234A>C | CA983287425 | PEX12 | c.681-53T>G (n.681-53T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576236T>C | CA2637282721 | PEX12 | c.681-55A>G (n.681-55A>G)
| gnomAD v4 |
| 17 | g.35576237A= | CA2257586989 | PEX12 | c.681-56T= (n.681-56T=)
| |
| 17 | g.35576237A>G | CA290068559 | PEX12 | c.681-56T>C (n.681-56T>C)
| dbSNP |
| 17 | g.35576238C>T | CA2637282722 | PEX12 | c.681-57G>A (n.681-57G>A)
| gnomAD v4 |
| 17 | g.35576239A= | CA2257586991 | PEX12 | c.681-58T= (n.681-58T=)
| |
| 17 | g.35576239A>G | CA290068563 | PEX12 | c.681-58T>C (n.681-58T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576241A= | CA2257586992 | PEX12 | c.681-60T= (n.681-60T=)
| |
| 17 | g.35576241A>G | CA290068564 | PEX12 | c.681-60T>C (n.681-60T>C)
| dbSNP gnomAD v4 |
| 17 | g.35576244G>A | CA728429043 | PEX12 | c.681-63C>T (n.681-63C>T)
| dbSNP |
| 17 | g.35576244G= | CA2257586993 | PEX12 | c.681-63C= (n.681-63C=)
| |
| 17 | g.35576244G>T | CA2637282727 | PEX12 | c.681-63C>A (n.681-63C>A)
| gnomAD v4 |
| 17 | g.35576246C= | CA2257586994 | PEX12 | c.681-65G= (n.681-65G=)
| |
| 17 | g.35576246C>G | CA290068565 | PEX12 | c.681-65G>C (n.681-65G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.35576246C>T | CA290068566 | PEX12 | c.681-65G>A (n.681-65G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576247T>A | CA2637282730 | PEX12 | c.681-66A>T (n.681-66A>T)
| gnomAD v4 |
| 17 | g.35576250_35576254del | CA2637282728 | PEX12 | c.681-70_681-66del (n.681-70_681-66del)
| gnomAD v4 |
| 17 | g.35576249_35576250delinsAT | CA2257586995 | PEX12 | c.681-69_681-68delinsAT (n.681-69_681-68delinsAT)
| |
| 17 | g.35576252_35576253del | CA2637282731 | PEX12 | c.681-69_681-68del (n.681-69_681-68del)
| gnomAD v4 |
| 17 | g.35576250del | CA2257586996 | PEX12 | c.681-69del (n.681-69del)
| dbSNP |
| 17 | g.35576250T>C | CA728429045 | PEX12 | c.681-69A>G (n.681-69A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576250T= | CA2257586997 | PEX12 | c.681-69A= (n.681-69A=)
| |
| 17 | g.35576251A>G | CA2576233643 | PEX12 | c.681-70T>C (n.681-70T>C)
| gnomAD v4 |
| 17 | g.35576252T>A | CA2576233644 | PEX12 | c.681-71A>T (n.681-71A>T)
| |
| 17 | g.35576252T>C | CA728429048 | PEX12 | c.681-71A>G (n.681-71A>G)
| dbSNP gnomAD v4 |
| 17 | g.35576252T= | CA2257586998 | PEX12 | c.681-71A= (n.681-71A=)
| |
| 17 | g.35576253A>T | CA2637282732 | PEX12 | c.681-72T>A (n.681-72T>A)
| gnomAD v4 |
| 17 | g.35576257G= | CA2257586999 | PEX12 | c.681-76C= (n.681-76C=)
| |
| 17 | g.35576257G>T | CA290068572 | PEX12 | c.681-76C>A (n.681-76C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.35576258C>T | CA2637282734 | PEX12 | c.681-77G>A (n.681-77G>A)
| gnomAD v4 |
| 17 | g.35576260A>G | CA2637282735 | PEX12 | c.681-79T>C (n.681-79T>C)
| gnomAD v4 |
| 17 | g.35576261T>G | CA2637282736 | PEX12 | c.681-80A>C (n.681-80A>C)
| gnomAD v4 |
