NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)
|
rs2234917
|
0.00481
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
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_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
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_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)
|
rs368213717
|
0.00009
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter)
|
rs760433806
|
0.00004
|
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile)
|
rs755312623
|
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_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
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_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_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg)
|
rs1650946025
|
0.00001
|
NM_018082.6(POLR3B):c.1464+1G>A
|
rs1158662109
|
0.00001
|
NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe)
|
rs1171962004
|
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.2104C>T (p.Arg702Ter)
|
rs201401034
|
0.00001
|
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)
|
rs146513209
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter)
|
rs1437442253
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_018082.6(POLR3B):c.2818-1G>T
|
rs1057520785
|
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_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys)
|
rs751459271
|
0.00001
|
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr)
|
rs765382317
|
0.00001
|
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter)
|
rs758437925
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
|
|
|
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
|
|
|
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
|
|
|
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
|
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val)
|
rs372012542
|
|
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu)
|
rs794727174
|
|
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro)
|
rs1583187059
|
|
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg)
|
rs950101299
|
|
NM_001199198.3(TBC1D23):c.1687+2T>A
|
rs1553731605
|
|
NM_001272071.2(AP1S2):c.*241A>C
|
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del)
|
rs764874938
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp)
|
rs767260373
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
|
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
|
|
|
NM_006831.3(CLP1):c.419G>A (p.Arg140His)
|
rs587777616
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His)
|
rs1029077401
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu)
|
rs201153027
|
|
NM_018082.6(POLR3B):c.1533del (p.Ile511fs)
|
rs267608684
|
|
NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)
|
|
|
NM_018082.6(POLR3B):c.1627+7A>G
|
|
|
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser)
|
rs758867273
|
|
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
|
|
|
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
|
|
|
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
|
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu)
|
rs774072453
|
|
NM_033026.6(PCLO):c.2532dup (p.Gln845fs)
|
rs1584071201
|
|
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer)
|
rs1064793681
|
|
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)
|
rs1562374476
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|