NM_000304.4(PMP22):c.*577T>C
|
rs7538
|
0.20549
|
NM_000304.4(PMP22):c.*828G>A
|
rs13027
|
0.06019
|
NM_000304.4(PMP22):c.*228G>A
|
rs1804193
|
0.05698
|
NM_000304.4(PMP22):c.*1111G>T
|
rs7415
|
0.04701
|
NM_001368894.2(PAX6):c.-129+9G>A
|
rs56139994
|
0.02711
|
NM_000304.4(PMP22):c.*1120T>C
|
rs11654383
|
0.01749
|
NM_001368894.2(PAX6):c.369G>A (p.Glu123=)
|
rs114384476
|
0.01168
|
NM_001368894.2(PAX6):c.-180A>G
|
rs75563367
|
0.00766
|
NM_024426.6(WT1):c.*897G>C
|
rs5030324
|
0.00520
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_024426.6(WT1):c.*542G>A
|
rs142726499
|
0.00380
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_022039.4(FBXW4):c.134C>T (p.Ala45Val)
|
rs557225276
|
0.00351
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_022039.4(FBXW4):c.*453C>T
|
rs570558261
|
0.00263
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_022039.4(FBXW4):c.*233G>T
|
rs535051082
|
0.00231
|
NM_000304.4(PMP22):c.-141C>G
|
rs560442424
|
0.00204
|
NM_024426.6(WT1):c.*138G>A
|
rs111351882
|
0.00165
|
NM_000057.4(BLM):c.*77T>A
|
rs116293756
|
0.00133
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
NM_022455.5(NSD1):c.*3098dup
|
rs145155077
|
0.00042
|
NM_022039.4(FBXW4):c.*204G>A
|
rs185181909
|
0.00040
|
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)
|
rs138641637
|
0.00035
|
NM_000127.3(EXT1):c.-642G>A
|
rs534171475
|
0.00032
|
NM_022039.4(FBXW4):c.353G>A (p.Gly118Glu)
|
rs532195262
|
0.00031
|
NM_022039.4(FBXW4):c.1235+13T>G
|
rs193073481
|
0.00024
|
NM_022039.4(FBXW4):c.755T>C (p.Val252Ala)
|
rs143070839
|
0.00021
|
NM_019040.5(ELP4):c.*3433G>T
|
rs192709453
|
0.00019
|
NM_019040.5(ELP4):c.*3383C>T
|
rs541022955
|
0.00017
|
NM_001002295.2(GATA3):c.72G>A (p.Pro24=)
|
rs202168967
|
0.00011
|
NM_019040.5(ELP4):c.*4806T>A
|
rs189545730
|
0.00011
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_019040.5(ELP4):c.*5123T>A
|
rs576321279
|
0.00008
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
NM_000304.4(PMP22):c.*26T>C
|
rs200563670
|
0.00006
|
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His)
|
rs746416284
|
0.00005
|
NM_022039.4(FBXW4):c.*3G>A
|
rs777074009
|
0.00005
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
NM_005573.4(LMNB1):c.672A>G (p.Glu224=)
|
rs372510778
|
0.00003
|
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg)
|
rs570278983
|
0.00003
|
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile)
|
rs201504622
|
0.00002
|
NM_022039.4(FBXW4):c.1254G>A (p.Thr418=)
|
rs142870264
|
0.00002
|
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys)
|
rs771456995
|
0.00002
|
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)
|
rs779631884
|
0.00001
|
NM_022039.4(FBXW4):c.1437C>T (p.Ser479=)
|
rs574963392
|
0.00001
|
NM_000304.4(PMP22):c.*105CAAAC[2]
|
rs112829799
|
|
NM_000304.4(PMP22):c.*525CT[1]
|
rs71699667
|
|
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala)
|
rs148835259
|
|
NM_001042424.3(NSD2):c.*339CTC[1]
|
rs375129793
|
|
NM_019040.5(ELP4):c.*4251G>A
|
rs3026396
|
|
NM_022039.4(FBXW4):c.822-11C>T
|
rs540055383
|
|