NM_002382.5(MAX):c.406G>A (p.Gly136Arg)
|
rs140490467
|
0.00019
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)
|
rs761343609
|
0.00008
|
NM_001365951.3(KIF1B):c.2115+6545C>A
|
rs1299989581
|
0.00004
|
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)
|
rs763122049
|
0.00004
|
NM_000368.5(TSC1):c.1231C>A (p.Leu411Ile)
|
rs397514840
|
0.00003
|
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)
|
rs775692548
|
0.00003
|
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)
|
rs768058092
|
0.00002
|
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)
|
rs757430199
|
0.00001
|
NM_000368.5(TSC1):c.1355G>C (p.Gly452Ala)
|
rs371093730
|
0.00001
|
NM_001042492.3(NF1):c.4836G>A (p.Arg1612=)
|
rs1555533268
|
0.00001
|
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)
|
rs1269940164
|
0.00001
|
NM_001365951.3(KIF1B):c.2115+6476T>C
|
rs764466176
|
0.00001
|
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)
|
rs773852256
|
0.00001
|
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)
|
rs1011009249
|
0.00001
|
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)
|
rs754479325
|
0.00001
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)
|
rs143494325
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_001365951.3(KIF1B):c.2115+6012C>G
|
|
|
NM_001365951.3(KIF1B):c.2115+7115C>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7270G>A
|
|
|
NM_001365951.3(KIF1B):c.2115+7343G>A
|
|
|
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)
|
rs2102315795
|
|
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
|
|
|
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
|
|
|
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
|
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|