NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.13156C>T (p.Arg4386Ter)
|
rs899469618
|
0.00001
|
NM_014363.6(SACS):c.1869del (p.Arg624fs)
|
rs1006060877
|
0.00001
|
NM_014363.6(SACS):c.3701G>A (p.Trp1234Ter)
|
rs1248031379
|
0.00001
|
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)
|
rs1027429746
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5143A>T (p.Lys1715Ter)
|
rs755824618
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
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.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_014363.6(SACS):c.9956_9957dup (p.Val3320fs)
|
rs772704931
|
0.00001
|
NC_000013.10:g.(?_23903991)_(23905304_?)del
|
|
|
NC_000013.10:g.(?_23927914)_(23985388_?)del
|
|
|
NC_000013.10:g.(?_23985349)_(23985388_?)del
|
|
|
NM_014363.6(SACS):c.1004C>A (p.Ser335Ter)
|
rs767435985
|
|
NM_014363.6(SACS):c.10079del (p.Ser3360fs)
|
|
|
NM_014363.6(SACS):c.10100_10121del (p.Tyr3367fs)
|
rs2137577673
|
|
NM_014363.6(SACS):c.10115dup (p.Thr3373fs)
|
|
|
NM_014363.6(SACS):c.1014dup (p.Lys339Ter)
|
rs2137725980
|
|
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)
|
rs1555250255
|
|
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.10497_10500del (p.Ile3498_Tyr3499insTer)
|
rs2137574344
|
|
NM_014363.6(SACS):c.10543G>T (p.Glu3515Ter)
|
|
|
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)
|
rs1593123432
|
|
NM_014363.6(SACS):c.10671dup (p.Ile3558fs)
|
rs2137573025
|
|
NM_014363.6(SACS):c.10692del (p.Lys3565fs)
|
rs2137572889
|
|
NM_014363.6(SACS):c.1076_1077del (p.Tyr359fs)
|
|
|
NM_014363.6(SACS):c.10788_10789del (p.Gln3597fs)
|
rs2137572074
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10847G>A (p.Trp3616Ter)
|
rs1365858851
|
|
NM_014363.6(SACS):c.10855G>T (p.Glu3619Ter)
|
rs748151842
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.10933del (p.Phe3644_Leu3645insTer)
|
rs1566058677
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
NM_014363.6(SACS):c.10939G>T (p.Glu3647Ter)
|
rs1156566314
|
|
NM_014363.6(SACS):c.10949del (p.Ser3649_Leu3650insTer)
|
|
|
NM_014363.6(SACS):c.10955del (p.Pro3652fs)
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
NM_014363.6(SACS):c.11045del (p.Phe3682fs)
|
|
|
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
|
rs2137569412
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11157del (p.Glu3720fs)
|
|
|
NM_014363.6(SACS):c.11194C>T (p.Gln3732Ter)
|
|
|
NM_014363.6(SACS):c.1121_1122del (p.His374fs)
|
|
|
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.11356del (p.Glu3786fs)
|
|
|
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.1139_1143del (p.Glu380fs)
|
|
|
NM_014363.6(SACS):c.11451T>A (p.Tyr3817Ter)
|
|
|
NM_014363.6(SACS):c.11452G>T (p.Glu3818Ter)
|
|
|
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)
|
rs1555249878
|
|
NM_014363.6(SACS):c.11606T>A (p.Leu3869Ter)
|
rs2137565163
|
|
NM_014363.6(SACS):c.11634dup (p.Arg3879fs)
|
|
|
NM_014363.6(SACS):c.11665C>T (p.Gln3889Ter)
|
|
|
NM_014363.6(SACS):c.11674dup (p.Ser3892fs)
|
rs2137564626
|
|
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)
|
rs745740932
|
|
NM_014363.6(SACS):c.11848del (p.Tyr3950fs)
|
rs2137563478
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
NM_014363.6(SACS):c.12007C>T (p.Gln4003Ter)
|
|
|
NM_014363.6(SACS):c.12058A>T (p.Lys4020Ter)
|
|
|
NM_014363.6(SACS):c.12089del (p.Asn4030fs)
|
|
|
NM_014363.6(SACS):c.12106A>T (p.Arg4036Ter)
|
rs2137561134
|
|
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.1226_1227del (p.Ser409fs)
|
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
|
|
|
NM_014363.6(SACS):c.12416dup (p.Leu4139fs)
|
|
|
NM_014363.6(SACS):c.12446C>G (p.Ser4149Ter)
|
|
|
NM_014363.6(SACS):c.12536del (p.Gly4179fs)
|
rs2137557859
|
|
NM_014363.6(SACS):c.1256del (p.Ile419fs)
|
|
|
NM_014363.6(SACS):c.12603C>A (p.Tyr4201Ter)
|
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
|
|
|
NM_014363.6(SACS):c.12710_12713del (p.Val4237fs)
|
|
|
NM_014363.6(SACS):c.12736del (p.Ser4246fs)
|
|
|
NM_014363.6(SACS):c.12757C>T (p.Gln4253Ter)
|
|
|
NM_014363.6(SACS):c.12766del (p.Asp4256fs)
|
rs1555249479
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
NM_014363.6(SACS):c.12839_12843del (p.Phe4280fs)
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12885dup (p.Lys4296fs)
|
rs2137553918
|
|
NM_014363.6(SACS):c.12908T>A (p.Leu4303Ter)
|
rs1566055368
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.12953G>A (p.Trp4318Ter)
|
|
|
NM_014363.6(SACS):c.12954G>A (p.Trp4318Ter)
|
rs2137553245
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
NM_014363.6(SACS):c.13042dup (p.Ala4348fs)
|
rs2137552236
|
|
NM_014363.6(SACS):c.13064del (p.Leu4355fs)
|
rs2137552117
|
|
NM_014363.6(SACS):c.13085T>A (p.Leu4362Ter)
|
rs774995570
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
NM_014363.6(SACS):c.13176C>G (p.Tyr4392Ter)
|
rs1285760809
|
|
NM_014363.6(SACS):c.13208_13209del (p.Gln4403fs)
|
rs2137550994
|
|
NM_014363.6(SACS):c.13236_13239del (p.Arg4412fs)
|
|
|
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
|
rs1883405453
|
|
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
|
rs1555249276
|
|
NM_014363.6(SACS):c.13342del (p.Arg4448fs)
|
rs2137549635
|
|
NM_014363.6(SACS):c.13414dup (p.Trp4472fs)
|
|
|
NM_014363.6(SACS):c.13415G>A (p.Trp4472Ter)
|
|
|
NM_014363.6(SACS):c.1346del (p.Pro449fs)
|
|
|
NM_014363.6(SACS):c.13487_13488del (p.Lys4495_Ser4496insTer)
|
|
|
NM_014363.6(SACS):c.1358del (p.Gly453fs)
|
rs2137722808
|
|
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.1370_1371dup (p.Thr458fs)
|
rs765667160
|
|
NM_014363.6(SACS):c.1441G>T (p.Glu481Ter)
|
rs1593144887
|
|
NM_014363.6(SACS):c.1531_1532insT (p.Asp511fs)
|
|
|
NM_014363.6(SACS):c.1542dup (p.Arg515fs)
|
rs2137721367
|
|
NM_014363.6(SACS):c.1555del (p.Glu519fs)
|
rs2137721150
|
|
NM_014363.6(SACS):c.1620del (p.Val541fs)
|
|
|
NM_014363.6(SACS):c.1627del (p.Val543fs)
|
rs1870251884
|
|
NM_014363.6(SACS):c.1647dup (p.Glu550fs)
|
|
|
NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)
|
rs923921184
|
|
NM_014363.6(SACS):c.1693del (p.Ile565fs)
|
|
|
NM_014363.6(SACS):c.1705_1706del (p.Trp569fs)
|
rs2137719772
|
|
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter)
|
rs1555254256
|
|
NM_014363.6(SACS):c.1707G>A (p.Trp569Ter)
|
rs1593144544
|
|
NM_014363.6(SACS):c.1720C>T (p.Gln574Ter)
|
|
|
NM_014363.6(SACS):c.1752del (p.Glu585fs)
|
rs2137719240
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
NM_014363.6(SACS):c.1783C>T (p.Gln595Ter)
|
rs2137718900
|
|
NM_014363.6(SACS):c.1844_1845del (p.Thr615fs)
|
rs2137718161
|
|
NM_014363.6(SACS):c.187A>T (p.Lys63Ter)
|
rs1593157923
|
|
NM_014363.6(SACS):c.1940del (p.Lys647fs)
|
rs1593144167
|
|
NM_014363.6(SACS):c.1972C>T (p.Gln658Ter)
|
rs1238606214
|
|
NM_014363.6(SACS):c.2034dup (p.Phe679fs)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
NM_014363.6(SACS):c.2281_2284del (p.Ile761fs)
|
rs2137645390
|
|
NM_014363.6(SACS):c.2428del (p.Glu810fs)
|
|
|
NM_014363.6(SACS):c.2451del (p.Ile818fs)
|
rs2137643958
|
|
NM_014363.6(SACS):c.2578C>T (p.Gln860Ter)
|
rs76194641
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.2656C>T (p.Gln886Ter)
|
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
NM_014363.6(SACS):c.2713A>T (p.Lys905Ter)
|
rs1593133714
|
|
NM_014363.6(SACS):c.2755del (p.Arg919fs)
|
rs2137641201
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2950G>T (p.Glu984Ter)
|
rs1869146335
|
|
NM_014363.6(SACS):c.297dup (p.Leu100fs)
|
|
|
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)
|
rs1450257625
|
|
NM_014363.6(SACS):c.3005_3006insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGATATTGAAAATGC (p.Ala1002_Phe1003insAlaGlyArgGlyGlySerArgLeuTer)
|
rs2137639039
|
|
NM_014363.6(SACS):c.3029_3030insTTAC (p.Gln1011fs)
|
|
|
NM_014363.6(SACS):c.3094G>T (p.Glu1032Ter)
|
rs1272702356
|
|
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_014363.6(SACS):c.321T>A (p.Tyr107Ter)
|
|
|
NM_014363.6(SACS):c.3235dup (p.Thr1079fs)
|
|
|
NM_014363.6(SACS):c.3281dup (p.Asn1094fs)
|
rs2137636957
|
|
NM_014363.6(SACS):c.3309dup (p.Val1104fs)
|
rs2137636629
|
|
NM_014363.6(SACS):c.3328del (p.Ile1110fs)
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3343dup (p.Val1115fs)
|
rs2137636328
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3396dup (p.Leu1133fs)
|
|
|
NM_014363.6(SACS):c.3484G>T (p.Glu1162Ter)
|
rs1246013998
|
|
NM_014363.6(SACS):c.350del (p.Glu116_Leu117insTer)
|
|
|
NM_014363.6(SACS):c.3702G>A (p.Trp1234Ter)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.3830G>A (p.Trp1277Ter)
|
|
|
NM_014363.6(SACS):c.3832del (p.Val1278fs)
|
|
|
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)
|
rs756963289
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.410_411del (p.Gln137fs)
|
|
|
NM_014363.6(SACS):c.4117_4118delinsTA (p.Ala1373Ter)
|
rs797045938
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4259_4263del (p.Ile1420fs)
|
rs1869006331
|
|
NM_014363.6(SACS):c.427_428del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4328_4329del (p.Leu1443fs)
|
|
|
NM_014363.6(SACS):c.4361C>G (p.Ser1454Ter)
|
|
|
NM_014363.6(SACS):c.4371_4374del (p.Arg1457fs)
|
rs2137628257
|
|
NM_014363.6(SACS):c.4393A>T (p.Lys1465Ter)
|
|
|
NM_014363.6(SACS):c.4494_4498del (p.Asp1498fs)
|
|
|
NM_014363.6(SACS):c.4519_4522del (p.Glu1507fs)
|
rs1307665214
|
|
NM_014363.6(SACS):c.4539del (p.Met1514fs)
|
|
|
NM_014363.6(SACS):c.453T>A (p.Tyr151Ter)
|
rs2137781223
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
NM_014363.6(SACS):c.4639dup (p.Arg1547fs)
|
|
|
NM_014363.6(SACS):c.466_469del (p.Leu156fs)
|
|
|
NM_014363.6(SACS):c.4701del (p.Asp1568fs)
|
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
NM_014363.6(SACS):c.4775_4776del (p.Ile1592fs)
|
rs2137624455
|
|
NM_014363.6(SACS):c.477C>A (p.Tyr159Ter)
|
|
|
NM_014363.6(SACS):c.4910dup (p.Tyr1637Ter)
|
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.4937del (p.Leu1646fs)
|
|
|
NM_014363.6(SACS):c.4951C>T (p.Gln1651Ter)
|
rs2137623007
|
|
NM_014363.6(SACS):c.5008_5011del (p.Tyr1670fs)
|
rs2137622518
|
|
NM_014363.6(SACS):c.5063dup (p.Ser1689fs)
|
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)
|
rs1555252184
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5141_5144del (p.Ile1714fs)
|
|
|
NM_014363.6(SACS):c.5151del (p.Lys1717fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5163del (p.Ala1723fs)
|
|
|
NM_014363.6(SACS):c.5172_5173delinsTGGAACACAAAG (p.Leu1724fs)
|
rs1868900449
|
|
NM_014363.6(SACS):c.517C>T (p.Gln173Ter)
|
rs1593147785
|
|
NM_014363.6(SACS):c.5301del (p.His1768fs)
|
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5380del (p.Glu1794fs)
|
|
|
NM_014363.6(SACS):c.5393_5394del (p.Ser1798fs)
|
rs2137619202
|
|
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
|
|
|
NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)
|
rs1868872666
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5482G>T (p.Glu1828Ter)
|
|
|
NM_014363.6(SACS):c.5554C>T (p.Gln1852Ter)
|
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
NM_014363.6(SACS):c.5700G>A (p.Trp1900Ter)
|
|
|
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
|
rs1593129673
|
|
NM_014363.6(SACS):c.5719C>T (p.Arg1907Ter)
|
rs1485209013
|
|
NM_014363.6(SACS):c.5743_5744del (p.His1915fs)
|
rs2137616213
|
|
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.5796_5809del (p.Thr1933fs)
|
rs2137615608
|
|
NM_014363.6(SACS):c.5824_5827del (p.Tyr1942fs)
|
rs2137615500
|
|
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg)
|
rs137853017
|
|
NM_014363.6(SACS):c.5901dup (p.Ala1968fs)
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.6002_6003dup (p.Arg2002fs)
|
|
|
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
|
|
|
NM_014363.6(SACS):c.611del (p.Pro204fs)
|
|
|
NM_014363.6(SACS):c.6172dup (p.Ser2058fs)
|
|
|
NM_014363.6(SACS):c.6218del (p.Arg2073fs)
|
|
|
NM_014363.6(SACS):c.621dup (p.Ser208Ter)
|
rs2137729385
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.6300T>A (p.Cys2100Ter)
|
rs2137610914
|
|
NM_014363.6(SACS):c.6303del (p.Leu2102fs)
|
rs2137610861
|
|
NM_014363.6(SACS):c.6338_6341del (p.Leu2113fs)
|
rs1555251822
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
NM_014363.6(SACS):c.6434T>A (p.Leu2145Ter)
|
rs770490672
|
|
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)
|
rs1057516635
|
|
NM_014363.6(SACS):c.6538dup (p.Ala2180fs)
|
|
|
NM_014363.6(SACS):c.6623del (p.Ala2208fs)
|
rs1181477970
|
|
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)
|
rs1057516932
|
|
NM_014363.6(SACS):c.6770del (p.Leu2257fs)
|
|
|
NM_014363.6(SACS):c.6799del (p.Ser2267fs)
|
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
NM_014363.6(SACS):c.6845T>A (p.Leu2282Ter)
|
rs2137606000
|
|
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
|
|
|
NM_014363.6(SACS):c.6894_6897del (p.Lys2298_Glu2299insTer)
|
|
|
NM_014363.6(SACS):c.7020_7024del (p.Leu2341fs)
|
|
|
NM_014363.6(SACS):c.7080_7084del (p.His2362fs)
|
rs1294102415
|
|
NM_014363.6(SACS):c.7117C>T (p.Gln2373Ter)
|
|
|
NM_014363.6(SACS):c.7127dup (p.Asn2376fs)
|
rs2137603643
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014363.6(SACS):c.7147del (p.Arg2383fs)
|
rs1868641702
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7219_7220del (p.Ser2406_Ile2407insTer)
|
|
|
NM_014363.6(SACS):c.7250_7254del (p.Thr2417fs)
|
rs1868628768
|
|
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)
|
rs2137602382
|
|
NM_014363.6(SACS):c.7255G>T (p.Glu2419Ter)
|
rs2137602329
|
|
NM_014363.6(SACS):c.7272C>A (p.Cys2424Ter)
|
rs1868626730
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7316_7320del (p.Lys2439fs)
|
rs2137601578
|
|
NM_014363.6(SACS):c.7321C>T (p.Gln2441Ter)
|
|
|
NM_014363.6(SACS):c.7322_7323del (p.Gln2441fs)
|
|
|
NM_014363.6(SACS):c.7379_7380del (p.Leu2460fs)
|
|
|
NM_014363.6(SACS):c.7398dup (p.Cys2467fs)
|
|
|
NM_014363.6(SACS):c.7415del (p.Pro2472fs)
|
rs2137600629
|
|
NM_014363.6(SACS):c.7516_7522dup (p.Arg2508fs)
|
|
|
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
|
rs1057516438
|
|
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs)
|
rs1467848128
|
|
NM_014363.6(SACS):c.7648del (p.Leu2550fs)
|
|
|
NM_014363.6(SACS):c.7655dup (p.Asn2552fs)
|
rs1868578034
|
|
NM_014363.6(SACS):c.7764_7767dup (p.Val2590fs)
|
rs1868567420
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.7928_7937del (p.Asp2643fs)
|
|
|
NM_014363.6(SACS):c.7962T>G (p.Tyr2654Ter)
|
|
|
NM_014363.6(SACS):c.8034del (p.Ser2679fs)
|
rs1220821559
|
|
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)
|
rs780332615
|
|
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
|
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8189_8190del (p.Leu2730fs)
|
|
|
NM_014363.6(SACS):c.8196_8199del (p.Asp2733fs)
|
rs2137594187
|
|
NM_014363.6(SACS):c.8238_8239dup (p.Ile2747fs)
|
rs779248938
|
|
NM_014363.6(SACS):c.8251del (p.Glu2751fs)
|
|
|
NM_014363.6(SACS):c.8261dup (p.Ser2755fs)
|
rs2137593625
|
|
NM_014363.6(SACS):c.8264del (p.Ser2755fs)
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)
|
rs1240368715
|
|
NM_014363.6(SACS):c.8385dup (p.Asp2796fs)
|
|
|
NM_014363.6(SACS):c.8390dup (p.Pro2798fs)
|
|
|
NM_014363.6(SACS):c.8454G>A (p.Trp2818Ter)
|
rs1868481514
|
|
NM_014363.6(SACS):c.8471C>G (p.Ser2824Ter)
|
rs1868480299
|
|
NM_014363.6(SACS):c.8584A>T (p.Lys2862Ter)
|
rs2137590717
|
|
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.8765dup (p.Tyr2922Ter)
|
rs2137589721
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8799T>A (p.Tyr2933Ter)
|
|
|
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
|
|
|
NM_014363.6(SACS):c.8822T>G (p.Leu2941Ter)
|
rs530269705
|
|
NM_014363.6(SACS):c.8911C>T (p.Gln2971Ter)
|
|
|
NM_014363.6(SACS):c.8955del (p.His2986fs)
|
rs1228783766
|
|
NM_014363.6(SACS):c.9069_9070del (p.Arg3024fs)
|
rs1868424934
|
|
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)
|
rs1057517060
|
|
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
|
|
|
NM_014363.6(SACS):c.9119dup (p.Asn3040fs)
|
rs1435126137
|
|
NM_014363.6(SACS):c.9156dup (p.Glu3053fs)
|
|
|
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
|
|
|
NM_014363.6(SACS):c.922C>T (p.Leu308Phe)
|
|
|
NM_014363.6(SACS):c.9233del (p.Asn3078fs)
|
rs1593125341
|
|
NM_014363.6(SACS):c.9249del (p.Leu3083_Ile3084insTer)
|
rs1868403104
|
|
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
|
|
|
NM_014363.6(SACS):c.9284del (p.Pro3095fs)
|
|
|
NM_014363.6(SACS):c.9292dup (p.Ile3098fs)
|
|
|
NM_014363.6(SACS):c.9367C>T (p.Gln3123Ter)
|
rs2137584477
|
|
NM_014363.6(SACS):c.9417_9433del (p.Cys3139_Glu3145delinsTer)
|
rs2137583946
|
|
NM_014363.6(SACS):c.9484_9496del (p.Val3162fs)
|
|
|
NM_014363.6(SACS):c.9508_9518del (p.Arg3170fs)
|
|
|
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
|
rs1060503431
|
|
NM_014363.6(SACS):c.9576_9580del (p.Leu3192fs)
|
rs1883687132
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs)
|
rs2137582027
|
|
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)
|
rs751568153
|
|
NM_014363.6(SACS):c.9678T>G (p.Tyr3226Ter)
|
|
|
NM_014363.6(SACS):c.9702G>A (p.Trp3234Ter)
|
rs2137581531
|
|
NM_014363.6(SACS):c.9744G>A (p.Trp3248Ter)
|
rs1883673959
|
|
NM_014363.6(SACS):c.9764dup (p.Ser3256fs)
|
|
|
NM_014363.6(SACS):c.9834G>A (p.Trp3278Ter)
|
rs1174846895
|
|
NM_014363.6(SACS):c.9866C>G (p.Ser3289Ter)
|
rs2137580127
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014363.6(SACS):c.9987T>A (p.Cys3329Ter)
|
rs2137578916
|
|