|
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
|
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)
|
rs141744337
|
0.00009
|
|
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His)
|
rs752300607
|
0.00005
|
|
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro)
|
rs150433582
|
0.00004
|
|
NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu)
|
rs150291837
|
0.00003
|
|
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu)
|
rs863225201
|
0.00003
|
|
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)
|
rs121918129
|
0.00003
|
|
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr)
|
rs757222534
|
0.00003
|
|
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu)
|
rs746867724
|
0.00003
|
|
NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)
|
rs575689990
|
0.00002
|
|
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp)
|
rs370676288
|
0.00002
|
|
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys)
|
rs771170000
|
0.00002
|
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
|
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met)
|
rs863225198
|
0.00002
|
|
NM_019892.6(INPP5E):c.1760del (p.Val587fs)
|
rs775518991
|
0.00002
|
|
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu)
|
rs754637179
|
0.00002
|
|
NM_001286577.2(C2CD3):c.184C>T (p.Arg62Ter)
|
rs587777653
|
0.00001
|
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
|
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)
|
rs780882740
|
0.00001
|
|
NM_019892.6(INPP5E):c.907G>A (p.Val303Met)
|
rs746212325
|
0.00001
|
|
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg)
|
rs187433682
|
0.00001
|
|
NM_024809.5(TCTN2):c.1626del (p.Asp543fs)
|
rs863225220
|
0.00001
|
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
|
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro)
|
rs757863670
|
0.00001
|
|
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)
|
rs1950967763
|
|
|
NM_001286577.2(C2CD3):c.4951+1G>T
|
rs863225151
|
|
|
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)
|
rs1885329722
|
|
|
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp)
|
rs368448387
|
|
|
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)
|
rs1463041654
|
|
|
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)
|
rs759684383
|
|
|
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter)
|
rs745704336
|
|
|
NM_001308120.2:c.2339_3238del
|
|
|
|
NM_006346.4(PIBF1):c.1669del (p.Leu557fs)
|
rs863225214
|
|
|
NM_015681.6(B9D1):c.285C>A (p.Phe95Leu)
|
rs373478202
|
|
|
NM_015681.6(B9D1):c.466C>T (p.Arg156Trp)
|
rs369488112
|
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
|
NM_017777.4(MKS1):c.1261C>T (p.Pro421Ser)
|
rs863225210
|
|
|
NM_017777.4(MKS1):c.1389G>T (p.Arg463=)
|
rs773269657
|
|
|
NM_017777.4(MKS1):c.1528dup (p.Arg510fs)
|
rs863225204
|
|
|
NM_017777.4(MKS1):c.1589-2A>T
|
rs863225207
|
|
|
NM_017777.4(MKS1):c.262-179_262-37del
|
rs1555600644
|
|
|
NM_017777.4(MKS1):c.381del (p.Tyr128fs)
|
rs863225206
|
|
|
NM_017777.4(MKS1):c.55G>T (p.Asp19Tyr)
|
rs863225205
|
|
|
NM_017777.4(MKS1):c.767_768insC (p.Glu256fs)
|
rs863225209
|
|
|
NM_017777.4(MKS1):c.950G>A (p.Gly317Glu)
|
rs863225208
|
|
|
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr)
|
rs863225200
|
|
|
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro)
|
rs863225202
|
|
|
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly)
|
rs863225197
|
|
|
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs)
|
rs863225199
|
|
|
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter)
|
rs863225221
|
|
|
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys)
|
rs201827132
|
|
|
NM_024809.5(TCTN2):c.76del (p.Asp26fs)
|
rs863225222
|
|
|
NM_024809.5(TCTN2):c.76dup (p.Asp26fs)
|
rs863225222
|
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|