NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_018082.6(POLR3B):c.2817+30T>A
|
rs142517808
|
0.00025
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00011
|
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala)
|
rs368665310
|
0.00009
|
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)
|
rs368213717
|
0.00009
|
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)
|
rs201677741
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)
|
rs542398089
|
0.00006
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys)
|
rs368953286
|
0.00004
|
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter)
|
rs148879912
|
0.00003
|
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)
|
rs267608688
|
0.00003
|
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)
|
rs201128942
|
0.00003
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018082.6(POLR3B):c.1263+2T>C
|
rs774526181
|
0.00002
|
NM_018082.6(POLR3B):c.1857-12A>G
|
rs528038639
|
0.00002
|
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu)
|
rs775141057
|
0.00002
|
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg)
|
rs200865021
|
0.00002
|
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)
|
rs758991387
|
0.00002
|
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)
|
rs1167405466
|
0.00001
|
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser)
|
rs587777621
|
0.00001
|
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu)
|
rs587777622
|
0.00001
|
NM_001759.4(CCND2):c.851T>G (p.Val284Gly)
|
rs777786993
|
0.00001
|
NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val)
|
rs2037453602
|
0.00001
|
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys)
|
rs1442212683
|
0.00001
|
NM_018082.6(POLR3B):c.1464+1G>A
|
rs1158662109
|
0.00001
|
NM_018082.6(POLR3B):c.1857-2A>C
|
rs267608686
|
0.00001
|
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn)
|
rs781671613
|
0.00001
|
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)
|
rs756536922
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro)
|
rs749670593
|
0.00001
|
NM_018082.6(POLR3B):c.308G>A (p.Arg103His)
|
rs780148992
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)
|
rs113994151
|
0.00001
|
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
|
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)
|
rs796065045
|
|
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)
|
rs869312909
|
|
NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs)
|
rs1555725043
|
|
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)
|
rs869312911
|
|
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)
|
rs773656789
|
|
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)
|
rs869312910
|
|
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)
|
rs113994150
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001199198.3(TBC1D23):c.53+100G>A
|
|
|
NM_001199198.3(TBC1D23):c.630del (p.Thr211fs)
|
rs1354130291
|
|
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)
|
rs1555904878
|
|
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
|
rs28936072
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001368809.2(AMPD2):c.2089G>C (p.Glu697Gln)
|
|
|
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)
|
rs587777619
|
|
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala)
|
rs587777618
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg)
|
rs587777622
|
|
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)
|
rs1064795031
|
|
NM_002547.3(OPHN1):c.155-2A>C
|
rs1064793755
|
|
NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter)
|
rs1642559236
|
|
NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val)
|
rs1641758308
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005465.7(AKT3):c.548T>A (p.Val183Asp)
|
rs886041100
|
|
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser)
|
rs397514605
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)
|
rs863225429
|
|
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)
|
rs863225428
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg)
|
rs1816420898
|
|
NM_014846.4(WASHC5):c.3335+2T>A
|
rs398123007
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_018082.6(POLR3B):c.1101+1G>C
|
rs773891661
|
|
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs)
|
rs2037451732
|
|
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu)
|
rs201153027
|
|
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro)
|
rs2137002042
|
|
NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe)
|
rs1396040670
|
|
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys)
|
rs267608683
|
|
NM_018082.6(POLR3B):c.1533del (p.Ile511fs)
|
rs267608684
|
|
NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg)
|
rs2137003969
|
|
NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter)
|
rs2137008757
|
|
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys)
|
rs755658678
|
|
NM_018082.6(POLR3B):c.2083+1G>A
|
rs7133068
|
|
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser)
|
rs758867273
|
|
NM_018082.6(POLR3B):c.2190del (p.Phe730fs)
|
rs2137027936
|
|
NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn)
|
rs1428989000
|
|
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter)
|
rs267608685
|
|
NM_018082.6(POLR3B):c.2707del (p.Gln903fs)
|
rs2137036995
|
|
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu)
|
rs267608689
|
|
NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe)
|
rs2137076093
|
|
NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter)
|
rs2137076107
|
|
NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr)
|
rs2038598006
|
|
NM_018082.6(POLR3B):c.303+1G>A
|
rs2036573956
|
|
NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val)
|
rs2137084674
|
|
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe)
|
rs2136887072
|
|
NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val)
|
rs2137097735
|
|
NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter)
|
rs2137097739
|
|
NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg)
|
rs2136879253
|
|
NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly)
|
rs2136917152
|
|
NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs)
|
rs1261509815
|
|
NM_018082.6(POLR3B):c.967-15A>G
|
rs764250049
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_153816.6(SNX14):c.2557+1G>A
|
rs200277996
|
|
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter)
|
rs113994154
|
|
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)
|
rs113994153
|
|
Single allele
|
|
|