NM_017777.4(MKS1):c.858+9A>G
|
rs3826300
|
0.53797
|
NM_017777.4(MKS1):c.750-105T>C
|
rs3744105
|
0.53777
|
NM_017777.4(MKS1):c.261+67A>G
|
rs7225148
|
0.34782
|
NM_017777.4(MKS1):c.*75C>T
|
rs35184412
|
0.08455
|
NM_017777.4(MKS1):c.1024+128C>T
|
rs72839966
|
0.08242
|
NM_017777.4(MKS1):c.*414C>T
|
rs2302313
|
0.08215
|
NM_017777.4(MKS1):c.191-44G>A
|
rs73329636
|
0.06658
|
NM_017777.4(MKS1):c.1671G>C (p.Leu557=)
|
rs11548967
|
0.06374
|
NM_017777.4(MKS1):c.*472C>G
|
rs17174788
|
0.04345
|
NM_017777.4(MKS1):c.1273+11G>A
|
rs16942826
|
0.01295
|
NM_017777.4(MKS1):c.-18C>G
|
rs116514023
|
0.01231
|
NM_017777.4(MKS1):c.*322G>T
|
rs185405908
|
0.00571
|
NM_017777.4(MKS1):c.1436G>A (p.Arg479His)
|
rs111315726
|
0.00476
|
NM_017777.3(MKS1):c.-64T>C
|
rs372127517
|
0.00325
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln)
|
rs201619500
|
0.00235
|
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr)
|
rs200865108
|
0.00157
|
NM_017777.4(MKS1):c.27C>T (p.Asp9=)
|
rs369488349
|
0.00086
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_017777.4(MKS1):c.1498A>G (p.Met500Val)
|
rs144635826
|
0.00054
|
NM_017777.4(MKS1):c.118C>T (p.His40Tyr)
|
rs199832333
|
0.00042
|
NM_017777.4(MKS1):c.*134C>T
|
rs34224064
|
0.00041
|
NM_017777.4(MKS1):c.544G>A (p.Val182Ile)
|
rs200185068
|
0.00041
|
NM_017777.4(MKS1):c.515+12C>T
|
rs372527189
|
0.00036
|
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln)
|
rs202112856
|
0.00029
|
NM_017777.4(MKS1):c.644+8G>T
|
rs370117125
|
0.00022
|
NM_017777.4(MKS1):c.*603T>G
|
rs578200260
|
0.00021
|
NM_017777.4(MKS1):c.-15C>G
|
rs541448010
|
0.00021
|
NM_017777.4(MKS1):c.491G>A (p.Arg164His)
|
rs200149256
|
0.00018
|
NM_017777.4(MKS1):c.1113C>A (p.Phe371Leu)
|
rs950609840
|
0.00016
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu)
|
rs771585740
|
0.00009
|
NM_017777.4(MKS1):c.10A>T (p.Thr4Ser)
|
rs928775924
|
0.00006
|
NM_017777.4(MKS1):c.729G>A (p.Thr243=)
|
rs373491923
|
0.00006
|
NM_017777.4(MKS1):c.*49C>A
|
rs371962780
|
0.00005
|
NM_017777.4(MKS1):c.1506G>A (p.Ser502=)
|
rs368535131
|
0.00005
|
NM_017777.4(MKS1):c.498G>T (p.Arg166=)
|
rs778956664
|
0.00005
|
NM_017777.4(MKS1):c.*415G>A
|
rs750194631
|
0.00004
|
NM_017777.4(MKS1):c.*469C>T
|
rs386465709
|
0.00004
|
NM_017777.4(MKS1):c.*594T>G
|
rs371037402
|
0.00004
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_017777.4(MKS1):c.*381A>G
|
rs886053168
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
0.00003
|
NM_017777.4(MKS1):c.1322C>T (p.Thr441Met)
|
rs367625961
|
0.00003
|
NM_017777.4(MKS1):c.1408-15A>G
|
rs762989365
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017777.4(MKS1):c.1543C>T (p.Arg515Cys)
|
rs775558298
|
0.00003
|
NM_017777.4(MKS1):c.1600C>T (p.Arg534Ter)
|
rs772719574
|
0.00003
|
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)
|
rs201476674
|
0.00003
|
NM_017777.4(MKS1):c.813C>T (p.His271=)
|
rs201961765
|
0.00003
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.1273+12T>A
|
rs762439479
|
0.00002
|
NM_017777.4(MKS1):c.1613G>A (p.Arg538His)
|
rs557678962
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_017777.4(MKS1):c.538C>T (p.Arg180Cys)
|
rs559966703
|
0.00002
|
NM_017777.4(MKS1):c.958G>A (p.Val320Ile)
|
rs386834053
|
0.00002
|
NM_001165927.1(MKS1):c.32G>C (p.Arg11Pro)
|
rs1312121495
|
0.00001
|
NM_017777.4(MKS1):c.102A>G (p.Thr34=)
|
rs886053171
|
0.00001
|
NM_017777.4(MKS1):c.1031C>G (p.Ser344Ter)
|
rs760971749
|
0.00001
|
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)
|
rs745809472
|
0.00001
|
NM_017777.4(MKS1):c.1095+1G>A
|
rs747740477
|
0.00001
|
NM_017777.4(MKS1):c.110A>G (p.Asn37Ser)
|
rs587779734
|
0.00001
|
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu)
|
rs773684291
|
0.00001
|
NM_017777.4(MKS1):c.1209G>A (p.Ser403=)
|
rs770493819
|
0.00001
|
NM_017777.4(MKS1):c.1268C>T (p.Thr423Ile)
|
rs760184188
|
0.00001
|
NM_017777.4(MKS1):c.1325T>G (p.Val442Gly)
|
rs754930606
|
0.00001
|
NM_017777.4(MKS1):c.1465C>T (p.Arg489Cys)
|
rs1003579700
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.1589-3C>T
|
rs752901746
|
0.00001
|
NM_017777.4(MKS1):c.191-1G>A
|
rs201362733
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
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.447C>T (p.Ser149=)
|
rs750376903
|
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.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.728C>T (p.Thr243Met)
|
rs749668169
|
0.00001
|
NM_017777.4(MKS1):c.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_017777.3(MKS1):c.-34_-12del
|
rs1244307754
|
|
NM_017777.4(MKS1):c.-20C>G
|
rs115507363
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1045C>T (p.Gln349Ter)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
|
|
|
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)
|
rs1555598065
|
|
NM_017777.4(MKS1):c.1112_1114del (p.Phe371del)
|
rs587777804
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr)
|
|
|
NM_017777.4(MKS1):c.1165+2T>C
|
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.119_126dup (p.Pro43fs)
|
|
|
NM_017777.4(MKS1):c.1203_1209delinsTCTCT (p.Leu404fs)
|
|
|
NM_017777.4(MKS1):c.1213G>A (p.Asp405Asn)
|
rs372554696
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1253T>C (p.Val418Ala)
|
rs886053169
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1273+4A>G
|
rs948397956
|
|
NM_017777.4(MKS1):c.1274-2A>C
|
|
|
NM_017777.4(MKS1):c.1288_1314del (p.Thr430_Glu438del)
|
rs1555597302
|
|
NM_017777.4(MKS1):c.1331_1345del (p.Glu444_Phe449delinsVal)
|
rs1555597266
|
|
NM_017777.4(MKS1):c.1382A>G (p.Tyr461Cys)
|
rs730882120
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT
|
rs1555597194
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
|
|
|
NM_017777.4(MKS1):c.1447_1490+22del
|
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1490+1G>A
|
rs2143737350
|
|
NM_017777.4(MKS1):c.1501G>T (p.Glu501Ter)
|
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1544G>A (p.Arg515His)
|
rs200658872
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
NM_017777.4(MKS1):c.1598G>A (p.Arg533His)
|
rs779093781
|
|
NM_017777.4(MKS1):c.1600C>A (p.Arg534=)
|
rs772719574
|
|
NM_017777.4(MKS1):c.1614del (p.Met539fs)
|
rs1555596555
|
|
NM_017777.4(MKS1):c.1621G>T (p.Glu541Ter)
|
rs1555596538
|
|
NM_017777.4(MKS1):c.171del (p.Phe57fs)
|
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.190+1G>A
|
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.233T>G (p.Ile78Ser)
|
rs786204222
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.259C>T (p.Gln87Ter)
|
|
|
NM_017777.4(MKS1):c.263T>C (p.Phe88Ser)
|
rs886053170
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.392_393del (p.Asp130_Ser131insTer)
|
rs386834047
|
|
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
|
|
|
NM_017777.4(MKS1):c.407A>C (p.Asn136Thr)
|
rs1969184476
|
|
NM_017777.4(MKS1):c.417+1G>A
|
rs756368560
|
|
NM_017777.4(MKS1):c.418-79G>T
|
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.458C>A (p.Ser153Ter)
|
rs903778224
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.516-2A>G
|
rs2143805609
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.729G>T (p.Thr243=)
|
rs373491923
|
|
NM_017777.4(MKS1):c.763G>C (p.Gly255Arg)
|
rs201237547
|
|
NM_017777.4(MKS1):c.763G>T (p.Gly255Trp)
|
rs201237547
|
|
NM_017777.4(MKS1):c.766del (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.766dup (p.Glu256fs)
|
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.805dup (p.Ser269fs)
|
rs1320893771
|
|
NM_017777.4(MKS1):c.811C>A (p.His271Asn)
|
rs201771125
|
|
NM_017777.4(MKS1):c.813C>A (p.His271Gln)
|
rs201961765
|
|
NM_017777.4(MKS1):c.81_82del
|
|
|
NM_017777.4(MKS1):c.823GAG[5] (p.Glu278dup)
|
rs780100856
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.955G>A (p.Val319Ile)
|
rs1393510784
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_017777.4(MKS1):c.[1115_1117del;1476T>G]
|
|
|