NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala)
|
rs200488568
|
0.00024
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)
|
rs782190413
|
0.00004
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_014845.6(FIG4):c.50T>C (p.Leu17Pro)
|
rs587777713
|
0.00002
|
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys)
|
rs587777714
|
0.00002
|
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)
|
rs104894075
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001370298.3(FGD4):c.2167G>T (p.Gly723Ter)
|
rs118203973
|
0.00001
|
NM_002972.4(SBF1):c.1249A>G (p.Met417Val)
|
rs587776986
|
0.00001
|
NM_003172.4(SURF1):c.107-2A>G
|
rs782726390
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_014845.6(FIG4):c.1043_1050del (p.Asp348fs)
|
rs1368013631
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_014845.6(FIG4):c.547C>T (p.Arg183Ter)
|
rs121908288
|
0.00001
|
NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)
|
rs121434402
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NG_007943.1:g.(43089_43830)_(47717_51712)dup
|
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001370298.3(FGD4):c.1081C>T (p.Arg361Ter)
|
rs118203972
|
|
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.2039_2040del (p.Glu680fs)
|
rs1565921326
|
|
NM_001370298.3(FGD4):c.2173-2A>G
|
rs281865065
|
|
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)
|
rs690016543
|
|
NM_003172.4(SURF1):c.799_800del (p.Leu267fs)
|
rs864309500
|
|
NM_006096.4(NDRG1):c.538-1G>A
|
rs11575976
|
|
NM_014845.6(FIG4):c.294del (p.Phe98fs)
|
rs1562648373
|
|
NM_014845.6(FIG4):c.759del (p.Phe254fs)
|
rs764717219
|
|
NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)
|
rs121434404
|
|
NM_016156.6(MTMR2):c.1593+1G>A
|
rs1590970875
|
|
NM_016156.6(MTMR2):c.1736_1745delinsCC (p.Tyr579fs)
|
rs1863269109
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)
|
rs104894076
|
|
NM_018972.4(GDAP1):c.92G>A (p.Trp31Ter)
|
rs121908112
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_030962.4(SBF2):c.1088_1296+646del
|
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter)
|
rs120074137
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.4443+1G>C
|
rs1564872328
|
|
NM_181882.3(PRX):c.1194_1197del (p.Leu400fs)
|
rs1599655206
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.385_394dup (p.Leu132fs)
|
rs1599656972
|
|
NM_181882.3(PRX):c.586C>T (p.Arg196Ter)
|
rs104894706
|
|