NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NC_000008.10:g.(?_77892493)_(77912525_?)del
|
|
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NC_000008.10:g.(?_77895497)_(77896414_?)del
|
|
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NM_000318.3(PEX2):c.10A>T (p.Arg4Ter)
|
rs1297517393
|
|
NM_000318.3(PEX2):c.113del (p.Thr38fs)
|
|
|
NM_000318.3(PEX2):c.115C>T (p.Gln39Ter)
|
rs61752118
|
|
NM_000318.3(PEX2):c.118del (p.Cys40fs)
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|
|
NM_000318.3(PEX2):c.146del (p.Leu48_Leu49insTer)
|
rs2132044757
|
|
NM_000318.3(PEX2):c.15dup (p.Glu6fs)
|
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.220dup (p.Ala74fs)
|
rs777974798
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.24_25del (p.Lys9fs)
|
rs2132045027
|
|
NM_000318.3(PEX2):c.272dup (p.Pro91_Asn92insTer)
|
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
NM_000318.3(PEX2):c.285T>G (p.Tyr95Ter)
|
|
|
NM_000318.3(PEX2):c.286C>T (p.Gln96Ter)
|
rs2132044384
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.318T>A (p.Tyr106Ter)
|
|
|
NM_000318.3(PEX2):c.320_326del (p.Ala107fs)
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
|
rs1174648906
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.369del (p.Leu123fs)
|
|
|
NM_000318.3(PEX2):c.386T>A (p.Leu129Ter)
|
rs1224224276
|
|
NM_000318.3(PEX2):c.387_396dup (p.Gly133fs)
|
rs2132044079
|
|
NM_000318.3(PEX2):c.39_40del (p.Arg13fs)
|
|
|
NM_000318.3(PEX2):c.414_426dup (p.Ile143fs)
|
|
|
NM_000318.3(PEX2):c.416_417del (p.Val139fs)
|
rs2132044032
|
|
NM_000318.3(PEX2):c.455_456insG (p.Ile152fs)
|
rs2132043966
|
|
NM_000318.3(PEX2):c.470del (p.Phe157fs)
|
|
|
NM_000318.3(PEX2):c.475C>T (p.Gln159Ter)
|
|
|
NM_000318.3(PEX2):c.497T>A (p.Leu166Ter)
|
rs1586069639
|
|
NM_000318.3(PEX2):c.502G>T (p.Glu168Ter)
|
|
|
NM_000318.3(PEX2):c.524del (p.Ser175fs)
|
rs2132043781
|
|
NM_000318.3(PEX2):c.549_550del (p.Ile183fs)
|
rs756891007
|
|
NM_000318.3(PEX2):c.550_551insC (p.Cys184fs)
|
rs2132043724
|
|
NM_000318.3(PEX2):c.550del (p.Cys184fs)
|
rs63545361
|
|
NM_000318.3(PEX2):c.571del (p.Tyr190_Met191insTer)
|
rs2132043667
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000318.3(PEX2):c.618del (p.Leu207fs)
|
rs2132043567
|
|
NM_000318.3(PEX2):c.669G>A (p.Trp223Ter)
|
rs61752127
|
|
NM_000318.3(PEX2):c.739T>C (p.Cys247Arg)
|
rs61752128
|
|
NM_000318.3(PEX2):c.77_79delinsTT (p.Asn26fs)
|
|
|
NM_000318.3(PEX2):c.79_80del (p.Lys27fs)
|
rs1261498405
|
|
NM_000318.3(PEX2):c.865dup (p.Ser289fs)
|
rs724160029
|
|
NM_000318.3(PEX2):c.91C>T (p.Gln31Ter)
|
rs149287302
|
|