NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly)
|
rs141736123
|
0.01357
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_014363.6(SACS):c.2186-4A>G
|
rs371866995
|
0.00054
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_017777.4(MKS1):c.1609C>T (p.Arg537Cys)
|
rs35464956
|
0.00011
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys)
|
rs749383532
|
0.00008
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_017777.4(MKS1):c.1175C>T (p.Pro392Leu)
|
rs763534380
|
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_000370.3(TTPA):c.205-2A>G
|
rs758349851
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_014363.6(SACS):c.1A>G (p.Met1Val)
|
rs771943685
|
0.00002
|
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)
|
rs766457071
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys)
|
rs779953982
|
0.00002
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.1588C>T (p.Gln530Ter)
|
rs747389432
|
0.00001
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=)
|
rs59428328
|
0.00001
|
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)
|
rs1287246452
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)
|
rs1554972406
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_014363.6(SACS):c.10034T>C (p.Val3345Ala)
|
rs767926148
|
0.00001
|
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu)
|
rs767435985
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10508_10510del (p.Arg3503_Leu3504delinsIle)
|
rs1555250190
|
0.00001
|
NM_014363.6(SACS):c.10699G>A (p.Glu3567Lys)
|
rs886050078
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12661C>G (p.Leu4221Val)
|
rs767622491
|
0.00001
|
NM_014363.6(SACS):c.12688G>A (p.Gly4230Ser)
|
rs746194271
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5122del (p.Ala1708fs)
|
rs1485885260
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.623G>T (p.Ser208Ile)
|
rs911764681
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.8956C>G (p.His2986Asp)
|
rs751888795
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_017777.4(MKS1):c.1063A>G (p.Thr355Ala)
|
rs745809472
|
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.1268C>T (p.Thr423Ile)
|
rs760184188
|
0.00001
|
NM_017777.4(MKS1):c.1497del (p.Phe499fs)
|
rs780161503
|
0.00001
|
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys)
|
rs753620277
|
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.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_000370.3(TTPA):c.-1C>T
|
rs1349901379
|
|
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)
|
rs1008240677
|
|
NM_000370.3(TTPA):c.1A>T (p.Met1Leu)
|
rs1408863841
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)
|
rs1554524054
|
|
NM_000370.3(TTPA):c.2T>A (p.Met1Lys)
|
rs786204758
|
|
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)
|
rs1057516423
|
|
NM_000370.3(TTPA):c.441del (p.Glu148fs)
|
rs1057517448
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.552G>T (p.Thr184=)
|
rs181109321
|
|
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)
|
rs1554605498
|
|
NM_000370.3(TTPA):c.663+10_663+11insAC
|
rs757003890
|
|
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)
|
rs1554605276
|
|
NM_000370.3(TTPA):c.83_105del (p.Leu28fs)
|
rs1554525128
|
|
NM_000370.3(TTPA):c.88_118del (p.Ala30fs)
|
rs1554525125
|
|
NM_000784.4(CYP27A1):c.1017G>T (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
NM_000784.4(CYP27A1):c.1174G>A (p.Glu392Lys)
|
rs1553616443
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-2A>C
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1264-2A>G
|
rs1553616478
|
|
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs)
|
rs1553616508
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1514_1516del (p.Thr505_Gly506delinsArg)
|
rs1400183633
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.1589del (p.Gln530fs)
|
rs1553616552
|
|
NM_000784.4(CYP27A1):c.1596del (p.Ter532TrpextTer?)
|
rs1553616555
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.1A>G (p.Met1Val)
|
rs1446633660
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.49_75del (p.Gly17_Ala25del)
|
rs1553614280
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.539del (p.Glu180fs)
|
rs1553616235
|
|
NM_000784.4(CYP27A1):c.646+1G>C
|
rs79535262
|
|
NM_000784.4(CYP27A1):c.646+2T>C
|
rs1553616253
|
|
NM_000784.4(CYP27A1):c.721_723dup (p.Val241dup)
|
rs1553616276
|
|
NM_000784.4(CYP27A1):c.76_99del (p.Arg26_Ala33del)
|
rs1188925314
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_000784.4(CYP27A1):c.845-2A>G
|
rs1553616312
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)
|
rs1554972400
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.230-9dup
|
rs1554972934
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)
|
rs1554972406
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)
|
rs1554972964
|
|
NM_001173990.3(TMEM216):c.34+18_34+21del
|
rs940443692
|
|
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG
|
rs1554973024
|
|
NM_001173990.3(TMEM216):c.432-10delinsAA
|
rs1554973021
|
|
NM_001173990.3(TMEM216):c.432-10delinsAC
|
rs1554973021
|
|
NM_001386140.1(MTTP):c.1558-2A>G
|
rs1553927840
|
|
NM_014363.6(SACS):c.*20del
|
rs143617437
|
|
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)
|
rs1555250395
|
|
NM_014363.6(SACS):c.10050del (p.His3351fs)
|
rs1555250383
|
|
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)
|
rs1555250359
|
|
NM_014363.6(SACS):c.10090del (p.Ala3364fs)
|
rs1057517383
|
|
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)
|
rs1555250255
|
|
NM_014363.6(SACS):c.10424_10426del (p.Glu3475del)
|
rs1555250217
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
|
rs755186798
|
|
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer)
|
rs1555250191
|
|
NM_014363.6(SACS):c.10536del (p.Ile3513fs)
|
rs1555250183
|
|
NM_014363.6(SACS):c.10651_10656del (p.Met3551_Leu3552del)
|
rs1555250156
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10755_10757del (p.Phe3585del)
|
rs771277098
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
NM_014363.6(SACS):c.10854del (p.Glu3619fs)
|
rs1057516773
|
|
NM_014363.6(SACS):c.1085del (p.Lys362fs)
|
rs1057517242
|
|
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)
|
rs1057516578
|
|
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs)
|
rs1555250022
|
|
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs)
|
rs1555250016
|
|
NM_014363.6(SACS):c.11042dup (p.Phe3682fs)
|
rs756597098
|
|
NM_014363.6(SACS):c.11081dup (p.Cys3694fs)
|
rs1057516856
|
|
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs)
|
rs1555249977
|
|
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)
|
rs1555249966
|
|
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)
|
rs1057516398
|
|
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)
|
rs753205260
|
|
NM_014363.6(SACS):c.11265_11266del (p.Ile3755fs)
|
rs1400601705
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.1137dup (p.Glu380fs)
|
rs1057516987
|
|
NM_014363.6(SACS):c.11428dup (p.Glu3810fs)
|
rs1555249894
|
|
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)
|
rs1555249878
|
|
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)
|
rs1555249881
|
|
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs)
|
rs1555249826
|
|
NM_014363.6(SACS):c.11713del (p.Ala3906fs)
|
rs1555249797
|
|
NM_014363.6(SACS):c.11731del (p.Ser3911fs)
|
rs1057517232
|
|
NM_014363.6(SACS):c.1173T>A (p.Ser391=)
|
rs150683286
|
|
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter)
|
rs1555249789
|
|
NM_014363.6(SACS):c.11857_11859del (p.Lys3953del)
|
rs1555249772
|
|
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter)
|
rs1555249766
|
|
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)
|
rs1555249745
|
|
NM_014363.6(SACS):c.12020C>T (p.Ser4007Phe)
|
rs1314135259
|
|
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer)
|
rs1555249695
|
|
NM_014363.6(SACS):c.12150del (p.Phe4050fs)
|
rs1555249662
|
|
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
|
rs1555249648
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)
|
rs1555249633
|
|
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs)
|
rs1555249607
|
|
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs)
|
rs1555249599
|
|
NM_014363.6(SACS):c.12540del (p.Glu4180fs)
|
rs1057516347
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12766del (p.Asp4256fs)
|
rs1555249479
|
|
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)
|
rs1057516406
|
|
NM_014363.6(SACS):c.12775_12777del (p.Pro4259del)
|
rs1555249469
|
|
NM_014363.6(SACS):c.12779del (p.Ser4260fs)
|
rs1555249460
|
|
NM_014363.6(SACS):c.12830CTC[1] (p.Pro4278del)
|
rs764766520
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
NM_014363.6(SACS):c.12835_12837del (p.Leu4279del)
|
rs1555249424
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
NM_014363.6(SACS):c.12991C>T (p.Arg4331Trp)
|
rs1555249369
|
|
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs)
|
rs1555249338
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs)
|
rs1555249326
|
|
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
|
rs1555249276
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)
|
rs753277514
|
|
NM_014363.6(SACS):c.13349G>A (p.Trp4450Ter)
|
rs1555249236
|
|
NM_014363.6(SACS):c.13360del (p.Ala4454fs)
|
rs1555249223
|
|
NM_014363.6(SACS):c.13393del (p.Leu4465fs)
|
rs1555249211
|
|
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)
|
rs745961541
|
|
NM_014363.6(SACS):c.13540C>T (p.Gln4514Ter)
|
rs1555249133
|
|
NM_014363.6(SACS):c.13614C>G (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13645A>G (p.Asn4549Asp)
|
rs1178912631
|
|
NM_014363.6(SACS):c.1420C>T (p.Arg474Cys)
|
rs746704660
|
|
NM_014363.6(SACS):c.1435_1436insTTT (p.Lys478_Trp479insPhe)
|
rs1555254306
|
|
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer)
|
rs1057516543
|
|
NM_014363.6(SACS):c.2076del (p.Ser693fs)
|
rs1057516224
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2186-2A>G
|
rs1057516554
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)
|
rs1555252953
|
|
NM_014363.6(SACS):c.2329dup (p.Ser777fs)
|
rs1555252944
|
|
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)
|
rs1057517437
|
|
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)
|
rs1555252929
|
|
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs)
|
rs1555252928
|
|
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs)
|
rs1555252926
|
|
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)
|
rs1555252876
|
|
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)
|
rs142037771
|
|
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)
|
rs771746381
|
|
NM_014363.6(SACS):c.2627_2631del (p.Val876fs)
|
rs1555252844
|
|
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs)
|
rs1057516829
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)
|
rs1555252786
|
|
NM_014363.6(SACS):c.2870del (p.Pro957fs)
|
rs1057516624
|
|
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs)
|
rs1057517034
|
|
NM_014363.6(SACS):c.29del (p.Pro10fs)
|
rs1057516837
|
|
NM_014363.6(SACS):c.2T>C (p.Met1Thr)
|
rs1417057515
|
|
NM_014363.6(SACS):c.3021_3023del (p.Glu1008del)
|
rs1555252742
|
|
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs)
|
rs1057516551
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3369TCT[1] (p.Leu1125del)
|
rs1555252672
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)
|
rs1555252634
|
|
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs)
|
rs1555252623
|
|
NM_014363.6(SACS):c.3556dup (p.Met1186fs)
|
rs1555252611
|
|
NM_014363.6(SACS):c.3633del (p.Ala1212fs)
|
rs1555252587
|
|
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)
|
rs959856535
|
|
NM_014363.6(SACS):c.3706_3707insACT (p.Tyr1235dup)
|
rs1555252563
|
|
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs)
|
rs1555252545
|
|
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)
|
rs1555252531
|
|
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs)
|
rs1555252518
|
|
NM_014363.6(SACS):c.4039del (p.Leu1347fs)
|
rs1057516222
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4162_4164del (p.Ser1388del)
|
rs755941308
|
|
NM_014363.6(SACS):c.4168del (p.Ile1391fs)
|
rs1555252465
|
|
NM_014363.6(SACS):c.4173_4175del (p.Ile1391del)
|
rs1555252463
|
|
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter)
|
rs1555252458
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233dup (p.Leu1412fs)
|
rs1555252448
|
|
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)
|
rs1057516930
|
|
NM_014363.6(SACS):c.4385dup (p.Arg1463fs)
|
rs1555252388
|
|
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs)
|
rs1057516294
|
|
NM_014363.6(SACS):c.4495dup (p.Met1499fs)
|
rs1555252359
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
NM_014363.6(SACS):c.4593dup (p.Asp1532fs)
|
rs780197970
|
|
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs)
|
rs1057516820
|
|
NM_014363.6(SACS):c.4760del (p.His1587fs)
|
rs1057516285
|
|
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)
|
rs757872635
|
|
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)
|
rs1057516580
|
|
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)
|
rs1459899547
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs)
|
rs1057517305
|
|
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)
|
rs1555252184
|
|
NM_014363.6(SACS):c.5111_5113dup (p.Asn1704_Pro1705insHis)
|
rs1555252172
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter)
|
rs1555252148
|
|
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)
|
rs1555252142
|
|
NM_014363.6(SACS):c.5304_5306del (p.His1769del)
|
rs1555252136
|
|
NM_014363.6(SACS):c.5358TGA[1] (p.Asp1788del)
|
rs775922113
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)
|
rs1555252113
|
|
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)
|
rs1057517172
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs)
|
rs1188844823
|
|
NM_014363.6(SACS):c.5639C>T (p.Thr1880Ile)
|
rs1555252070
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.5719del (p.Arg1907fs)
|
rs1555252055
|
|
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)
|
rs1057517138
|
|
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs)
|
rs759166250
|
|
NM_014363.6(SACS):c.5784dup (p.Arg1929fs)
|
rs1057517099
|
|
NM_014363.6(SACS):c.5919del (p.Glu1974fs)
|
rs1555251990
|
|
NM_014363.6(SACS):c.5937_5939del (p.Ser1980del)
|
rs1555251980
|
|
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)
|
rs1555251963
|
|
NM_014363.6(SACS):c.5999_6001del (p.Lys2000del)
|
rs1555251960
|
|
NM_014363.6(SACS):c.6001dup (p.Arg2001fs)
|
rs1555251960
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.605-1G>A
|
rs1555254489
|
|
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)
|
rs1555251944
|
|
NM_014363.6(SACS):c.6068del (p.Asn2023fs)
|
rs1555251935
|
|
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)
|
rs1408290451
|
|
NM_014363.6(SACS):c.6163del (p.Gln2055fs)
|
rs1555251905
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.6231_6233del (p.Met2077del)
|
rs1555251880
|
|
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
|
rs1555251853
|
|
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)
|
rs1555251840
|
|
NM_014363.6(SACS):c.6320del (p.Leu2107fs)
|
rs1057516295
|
|
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)
|
rs1555251818
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)
|
rs201690040
|
|
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)
|
rs1057516635
|
|
NM_014363.6(SACS):c.6466GAT[1] (p.Asp2157del)
|
rs1204242892
|
|
NM_014363.6(SACS):c.6592_6593insAAAAAAAAA (p.Lys2197_Ile2198insLysLysLys)
|
rs1555251719
|
|
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
|
NM_014363.6(SACS):c.6665CAG[1] (p.Ala2223del)
|
rs1555251695
|
|
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)
|
rs1057516932
|
|
NM_014363.6(SACS):c.6800_6802del (p.Ser2267del)
|
rs1555251650
|
|
NM_014363.6(SACS):c.6804del (p.Phe2268fs)
|
rs1057517301
|
|
NM_014363.6(SACS):c.6856AAG[1] (p.Lys2287del)
|
rs1555251633
|
|
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)
|
rs1555251615
|
|
NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)
|
rs1555251573
|
|
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)
|
rs1057517222
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter)
|
rs1555251514
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)
|
rs747676277
|
|
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs)
|
rs1555251428
|
|
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer)
|
rs1555251421
|
|
NM_014363.6(SACS):c.7448_7456del (p.Tyr2483_Ala2486delinsSer)
|
rs1555251416
|
|
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs)
|
rs1057517451
|
|
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
|
rs1057516438
|
|
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)
|
rs140034972
|
|
NM_014363.6(SACS):c.7713A>T (p.Pro2571=)
|
rs557113294
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
NM_014363.6(SACS):c.7796ATG[1] (p.Asp2600del)
|
rs1555251315
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)
|
rs1057517014
|
|
NM_014363.6(SACS):c.7868del (p.Gly2623fs)
|
rs1555251301
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.7915_7920del (p.Ile2639_Ser2640del)
|
rs1555251289
|
|
NM_014363.6(SACS):c.8009del (p.Leu2670fs)
|
rs1555251254
|
|
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)
|
rs1555251241
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8221del (p.Asn2742fs)
|
rs1555251151
|
|
NM_014363.6(SACS):c.8305dup (p.Ile2769fs)
|
rs1279988199
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)
|
rs1240368715
|
|
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)
|
rs1555251015
|
|
NM_014363.6(SACS):c.848GTA[1] (p.Ser284del)
|
rs1555254436
|
|
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs)
|
rs1555251007
|
|
NM_014363.6(SACS):c.8512_8514del (p.Ser2838del)
|
rs1555251001
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)
|
rs1555250991
|
|
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)
|
rs1555250987
|
|
NM_014363.6(SACS):c.8612dup (p.Leu2871fs)
|
rs1057517212
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)
|
rs1555250949
|
|
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs)
|
rs1057517020
|
|
NM_014363.6(SACS):c.8755G>T (p.Ala2919Ser)
|
rs886050079
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)
|
rs1057516853
|
|
NM_014363.6(SACS):c.8873del (p.Lys2958fs)
|
rs765992922
|
|
NM_014363.6(SACS):c.8888del (p.Phe2963fs)
|
rs1555250872
|
|
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)
|
rs1057517060
|
|
NM_014363.6(SACS):c.9356GTC[1] (p.Arg3120del)
|
rs1388341388
|
|
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs)
|
rs1555250684
|
|
NM_014363.6(SACS):c.9377dup (p.Leu3128fs)
|
rs1057516875
|
|
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)
|
rs1057517349
|
|
NM_014363.6(SACS):c.9447del (p.Val3150fs)
|
rs1555250653
|
|
NM_014363.6(SACS):c.9498del (p.Phe3166fs)
|
rs1555250642
|
|
NM_014363.6(SACS):c.9523ACA[1] (p.Thr3176del)
|
rs1161557781
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)
|
rs1555250557
|
|
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs)
|
rs1555250508
|
|
NM_014363.6(SACS):c.9774AGA[1] (p.Glu3259del)
|
rs768958169
|
|
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs)
|
rs1057516464
|
|
NM_014363.6(SACS):c.9893_9895del (p.Gly3298del)
|
rs1293576848
|
|
NM_014363.6(SACS):c.9898_9900del (p.Val3300del)
|
rs762506287
|
|
NM_017777.3(MKS1):c.-34_-12del
|
rs1244307754
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1076CCA[1] (p.Thr360del)
|
rs1555598065
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
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.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1407+3_1407+5delinsAAT
|
rs1555597194
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs)
|
rs1555596710
|
|
NM_017777.4(MKS1):c.1588+12C>G
|
rs762501967
|
|
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.184_190del (p.Thr62fs)
|
rs386834046
|
|
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.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.771G>A (p.Lys257=)
|
rs886038632
|
|
NM_017777.4(MKS1):c.80+14C>G
|
rs761061379
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
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.858+1G>A
|
rs756102768
|
|