NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000303.3(PMM2):c.24del (p.Cys9fs)
|
rs768021123
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_013339.4(ALG6):c.1A>G (p.Met1Val)
|
rs562934427
|
0.00004
|
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter)
|
rs755933716
|
0.00003
|
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter)
|
rs1555448899
|
0.00002
|
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp)
|
rs104894526
|
0.00002
|
NM_002435.3(MPI):c.487+2del
|
rs1057516550
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_000303.3(PMM2):c.560G>A (p.Trp187Ter)
|
rs1057516886
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala)
|
rs398123309
|
0.00001
|
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)
|
rs1452559752
|
0.00001
|
NM_002435.3(MPI):c.488-1G>C
|
rs759579169
|
0.00001
|
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)
|
rs1057516424
|
0.00001
|
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)
|
rs762643273
|
0.00001
|
NM_013339.4(ALG6):c.2T>C (p.Met1Thr)
|
rs1387214955
|
0.00001
|
NM_013339.4(ALG6):c.429+1G>T
|
rs781097055
|
0.00001
|
NM_013339.4(ALG6):c.495-2A>G
|
rs1227131990
|
0.00001
|
NM_000303.3(PMM2):c.131T>C (p.Val44Ala)
|
rs104894534
|
|
NM_000303.3(PMM2):c.178+2T>G
|
rs1555448922
|
|
NM_000303.3(PMM2):c.179-1G>T
|
rs1166138838
|
|
NM_000303.3(PMM2):c.189del (p.Lys63fs)
|
rs1057516815
|
|
NM_000303.3(PMM2):c.190del (p.Tyr64fs)
|
rs1339004837
|
|
NM_000303.3(PMM2):c.1A>G (p.Met1Val)
|
rs786204591
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr)
|
rs104894532
|
|
NM_000303.3(PMM2):c.27C>A (p.Cys9Ter)
|
rs1057516943
|
|
NM_000303.3(PMM2):c.324del (p.Ile110fs)
|
rs1555449314
|
|
NM_000303.3(PMM2):c.345dup (p.Arg116fs)
|
rs1057516757
|
|
NM_000303.3(PMM2):c.347+1G>A
|
rs1057517117
|
|
NM_000303.3(PMM2):c.348-1G>C
|
rs1555449604
|
|
NM_000303.3(PMM2):c.348-2A>C
|
rs1555449603
|
|
NM_000303.3(PMM2):c.385G>A (p.Val129Met)
|
rs104894525
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.432C>A (p.Phe144Leu)
|
rs1555449617
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.454_455del (p.Asn152fs)
|
rs771240150
|
|
NM_000303.3(PMM2):c.511dup (p.Thr171fs)
|
rs1057516323
|
|
NM_000303.3(PMM2):c.524-2A>G
|
rs1555449780
|
|
NM_000303.3(PMM2):c.639+1G>A
|
rs1057517183
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.67-2A>T
|
rs1555448897
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_002435.3(MPI):c.-1_3del (p.Met1fs)
|
rs1555478015
|
|
NM_002435.3(MPI):c.120del (p.Ile40fs)
|
rs1057516466
|
|
NM_002435.3(MPI):c.145-1G>A
|
rs1057516573
|
|
NM_002435.3(MPI):c.166dup (p.Arg56fs)
|
rs786204593
|
|
NM_002435.3(MPI):c.345+1G>A
|
rs1555478333
|
|
NM_002435.3(MPI):c.488-1G>A
|
rs759579169
|
|
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)
|
rs1555478582
|
|
NM_002435.3(MPI):c.629del (p.Val210fs)
|
rs1555478606
|
|
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)
|
rs749911553
|
|
NM_002435.3(MPI):c.740del (p.Gly247fs)
|
rs1057517115
|
|
NM_002435.3(MPI):c.802_803del (p.Met268fs)
|
rs1555479227
|
|
NM_002435.3(MPI):c.844+1G>A
|
rs1394866894
|
|
NM_002435.3(MPI):c.845-2del
|
rs1555479341
|
|
NM_002435.3(MPI):c.880dup (p.Val294fs)
|
rs1555479351
|
|
NM_002435.3(MPI):c.89_113del (p.Leu30fs)
|
rs1555478118
|
|
NM_013339.4(ALG6):c.1128-2A>C
|
rs1553156882
|
|
NM_013339.4(ALG6):c.1136del (p.Pro379fs)
|
rs1553156884
|
|
NM_013339.4(ALG6):c.1167del (p.Ser390fs)
|
rs769698652
|
|
NM_013339.4(ALG6):c.1194_1195delinsG (p.Phe398fs)
|
rs1553156894
|
|
NM_013339.4(ALG6):c.1194dup (p.Ile399fs)
|
rs1207096732
|
|
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter)
|
rs780528545
|
|
NM_013339.4(ALG6):c.430-2A>G
|
rs1553155565
|
|
NM_013339.4(ALG6):c.65_66insAAGA (p.Leu23fs)
|
rs1553153399
|
|
NM_013339.4(ALG6):c.732_748dup (p.Phe250fs)
|
rs1553155823
|
|
NM_013339.4(ALG6):c.82_82+8del
|
rs1424742651
|
|