NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)
|
rs772719574
|
0.00003
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)
|
rs760971749
|
0.00001
|
NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter)
|
rs1968640181
|
0.00001
|
NM_017777.4(MKS1):c.191-1G>A
|
rs201362733
|
0.00001
|
NM_017777.4(MKS1):c.367C>T (p.Arg123Ter)
|
rs762482919
|
0.00001
|
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter)
|
rs990955357
|
0.00001
|
NM_017777.4(MKS1):c.472C>T (p.Arg158Ter)
|
rs386834050
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_017777.4(MKS1):c.856_857del (p.Asp286fs)
|
rs1968963177
|
0.00001
|
NC_000017.10:g.(?_56289719)_(56294117_?)del
|
|
|
NC_000017.10:g.(?_56293914)_(56294114_?)del
|
|
|
NC_000017.10:g.(?_56295969)_(56296506_?)del
|
|
|
NC_000017.10:g.(?_56295971)_(56296882_?)del
|
|
|
NC_000017.10:g.(?_56296502)_(56296882_?)del
|
|
|
NM_017777.4(MKS1):c.1024+1G>T
|
|
|
NM_017777.4(MKS1):c.1028G>A (p.Trp343Ter)
|
|
|
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
|
|
|
NM_017777.4(MKS1):c.1058del (p.Gly353fs)
|
|
|
NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter)
|
rs786205508
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
|
|
|
NM_017777.4(MKS1):c.1090dup (p.Ala364fs)
|
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.111dup (p.Phe38fs)
|
|
|
NM_017777.4(MKS1):c.1126dup (p.Thr376fs)
|
rs2143753386
|
|
NM_017777.4(MKS1):c.114dup (p.Leu39fs)
|
|
|
NM_017777.4(MKS1):c.1158del (p.Glu386fs)
|
|
|
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
|
|
|
NM_017777.4(MKS1):c.1204_1208dup (p.Leu404fs)
|
rs2143751393
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.124C>T (p.Gln42Ter)
|
rs1969405671
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1301G>A (p.Trp434Ter)
|
rs2143744476
|
|
NM_017777.4(MKS1):c.1365del (p.Glu455fs)
|
|
|
NM_017777.4(MKS1):c.136G>T (p.Glu46Ter)
|
rs183617764
|
|
NM_017777.4(MKS1):c.1387C>G (p.Arg463Gly)
|
rs766392300
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1408-14A>G
|
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)
|
rs2143737457
|
|
NM_017777.4(MKS1):c.149del (p.Asp50fs)
|
|
|
NM_017777.4(MKS1):c.1532_1533insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGGATGCGGAG (p.Ser511fs)
|
|
|
NM_017777.4(MKS1):c.161T>A (p.Leu54Ter)
|
rs2143838681
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.203del (p.Pro68fs)
|
|
|
NM_017777.4(MKS1):c.205G>T (p.Glu69Ter)
|
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
NM_017777.4(MKS1):c.240G>A (p.Trp80Ter)
|
|
|
NM_017777.4(MKS1):c.261+2T>A
|
rs886039803
|
|
NM_017777.4(MKS1):c.297T>A (p.Cys99Ter)
|
|
|
NM_017777.4(MKS1):c.301_302dup (p.Ser101fs)
|
|
|
NM_017777.4(MKS1):c.384C>A (p.Tyr128Ter)
|
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_017777.4(MKS1):c.417+1G>T
|
rs756368560
|
|
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
|
rs903778224
|
|
NM_017777.4(MKS1):c.469G>T (p.Glu157Ter)
|
rs200970148
|
|
NM_017777.4(MKS1):c.492_497del (p.Arg165_Arg166del)
|
|
|
NM_017777.4(MKS1):c.499C>T (p.Gln167Ter)
|
rs1215189491
|
|
NM_017777.4(MKS1):c.515+2T>C
|
rs1376664664
|
|
NM_017777.4(MKS1):c.517G>T (p.Glu173Ter)
|
|
|
NM_017777.4(MKS1):c.564_565insTTCT (p.Glu189delinsPheTer)
|
rs1969063562
|
|
NM_017777.4(MKS1):c.633del (p.Tyr213fs)
|
|
|
NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter)
|
rs746647549
|
|
NM_017777.4(MKS1):c.645-2A>T
|
rs773036963
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.663T>G (p.Tyr221Ter)
|
|
|
NM_017777.4(MKS1):c.805dup (p.Ser269fs)
|
rs1320893771
|
|
NM_017777.4(MKS1):c.811del (p.His271fs)
|
rs1968969593
|
|
NM_017777.4(MKS1):c.811dup (p.His271fs)
|
|
|
NM_017777.4(MKS1):c.812dup (p.His271fs)
|
|
|
NM_017777.4(MKS1):c.81_82del
|
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.918del (p.Val307fs)
|
rs2143778074
|
|
NM_017777.4(MKS1):c.925_926insTCTAA (p.Gly309delinsValTer)
|
rs2143777988
|
|
NM_017777.4(MKS1):c.94del (p.Arg32fs)
|
rs1969409341
|
|
NM_017777.4(MKS1):c.959-5C>A
|
rs765242131
|
|