NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_001184.4(ATR):c.268C>T (p.His90Tyr)
|
rs28897763
|
0.00813
|
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg)
|
rs144635565
|
0.00806
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys)
|
rs9332772
|
0.00614
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=)
|
rs41311573
|
0.00548
|
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys)
|
rs2307450
|
0.00547
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser)
|
rs375160616
|
0.00475
|
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr)
|
rs11711062
|
0.00451
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln)
|
rs118083923
|
0.00359
|
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val)
|
rs35370270
|
0.00355
|
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser)
|
rs138155747
|
0.00322
|
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe)
|
rs111558968
|
0.00315
|
NM_024747.6(HPS6):c.398C>T (p.Ala133Val)
|
rs199816481
|
0.00315
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr)
|
rs202076833
|
0.00295
|
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu)
|
rs112581563
|
0.00281
|
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val)
|
rs61758804
|
0.00272
|
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser)
|
rs143577015
|
0.00258
|
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val)
|
rs56180593
|
0.00232
|
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu)
|
rs150563155
|
0.00220
|
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser)
|
rs144952836
|
0.00206
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_004006.3(DMD):c.1483-7C>G
|
rs112463388
|
0.00162
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)
|
rs111450526
|
0.00141
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)
|
rs199990883
|
0.00113
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del)
|
rs574569798
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|