NM_002435.3(MPI):c.748G>A (p.Gly250Ser)
|
rs748090636
|
0.00010
|
NM_013339.4(ALG6):c.338G>A (p.Arg113His)
|
rs768372697
|
0.00006
|
NM_000303.3(PMM2):c.200T>G (p.Val67Gly)
|
rs751986971
|
0.00003
|
NM_002435.3(MPI):c.121G>A (p.Ala41Thr)
|
rs779821212
|
0.00003
|
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs)
|
rs774242915
|
0.00002
|
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)
|
rs1287725303
|
0.00002
|
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg)
|
rs755402538
|
0.00001
|
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys)
|
rs1187245939
|
0.00001
|
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg)
|
rs767831048
|
0.00001
|
NM_000303.3(PMM2):c.523+3A>G
|
rs774107741
|
0.00001
|
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser)
|
rs78290141
|
0.00001
|
NM_002435.3(MPI):c.1A>G (p.Met1Val)
|
rs528828174
|
0.00001
|
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)
|
rs150976885
|
0.00001
|
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)
|
rs759636698
|
0.00001
|
NM_000303.3(PMM2):c.179-15del
|
rs145496357
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr)
|
rs765433263
|
|
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del)
|
rs1555449316
|
|
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)
|
rs958073558
|
|
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)
|
rs1555449795
|
|
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly)
|
rs1386173214
|
|
NM_000303.3(PMM2):c.617del (p.Phe206fs)
|
rs1555449810
|
|
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)
|
rs1460691341
|
|
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)
|
rs758340382
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu)
|
rs752614554
|
|
NM_000303.3(PMM2):c.653dup (p.His218fs)
|
rs1555453241
|
|
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter)
|
rs763091085
|
|
NM_000303.3(PMM2):c.737_739del (p.Ser246del)
|
rs764817746
|
|
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln)
|
rs1555453271
|
|
NM_002435.3(MPI):c.1023del (p.Val342fs)
|
rs1555479441
|
|
NM_002435.3(MPI):c.1053+6_1053+9del
|
rs1279545559
|
|
NM_002435.3(MPI):c.1054-34_1054-11del
|
rs1555479532
|
|
NM_002435.3(MPI):c.1054del
|
rs752976348
|
|
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter)
|
rs1555479632
|
|
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del)
|
rs1555479384
|
|
NM_002435.3(MPI):c.991del (p.Glu331fs)
|
rs1555479423
|
|
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer)
|
rs1553156893
|
|
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)
|
rs773295759
|
|
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del)
|
rs1553157427
|
|
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter)
|
rs1553157428
|
|
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs)
|
rs1553157429
|
|
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del)
|
rs1553157450
|
|
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup)
|
rs1475726598
|
|
NM_013339.4(ALG6):c.189_191del (p.Asn64del)
|
rs1553155267
|
|
NM_013339.4(ALG6):c.235_237del (p.His79del)
|
rs1297610094
|
|
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1])
|
rs1553155569
|
|
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)
|
rs886548508
|
|
NM_013339.4(ALG6):c.988G>T (p.Val330Phe)
|
rs1057518724
|
|