NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln)
|
rs140551762
|
0.00178
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014363.6(SACS):c.11576G>A (p.Arg3859His)
|
rs149427669
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014363.6(SACS):c.2597A>G (p.Lys866Arg)
|
rs761960824
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
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.11624G>A (p.Arg3875His)
|
rs863224916
|
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.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1869del (p.Arg624fs)
|
rs1006060877
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
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.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
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.10055_10056del (p.Thr3352fs)
|
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
|
|
|
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)
|
rs1593123432
|
|
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
|
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10780A>T (p.Ile3594Leu)
|
rs994425261
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.10938_10941del (p.Lys3646fs)
|
|
|
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
|
|
|
NM_014363.6(SACS):c.11012_11013del (p.Gln3671fs)
|
|
|
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
|
rs2137569412
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
|
|
|
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
|
|
|
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
|
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
|
|
|
NM_014363.6(SACS):c.11601_11604del (p.Lys3867fs)
|
|
|
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
|
|
|
NM_014363.6(SACS):c.11637_11638del (p.Arg3879fs)
|
rs1593121924
|
|
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)
|
rs745740932
|
|
NM_014363.6(SACS):c.1189dup (p.Ser397fs)
|
|
|
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
|
|
|
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
|
|
|
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.1229T>A (p.Leu410Ter)
|
|
|
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
|
|
|
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
|
|
|
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
|
|
|
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
|
|
|
NM_014363.6(SACS):c.12529dup (p.Tyr4177fs)
|
|
|
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
|
|
|
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
|
|
|
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
|
|
|
NM_014363.6(SACS):c.12839del (p.Phe4280fs)
|
rs1197238841
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
|
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
|
|
|
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
|
rs1883405453
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13319C>A (p.Ser4440Ter)
|
|
|
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
|
|
|
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
|
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014363.6(SACS):c.1627G>A (p.Val543Met)
|
rs752705095
|
|
NM_014363.6(SACS):c.172-2A>G
|
|
|
NM_014363.6(SACS):c.1769_1770del (p.Val590fs)
|
rs1383333220
|
|
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
|
|
|
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
|
|
|
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
|
|
|
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
|
|
|
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
|
|
|
NM_014363.6(SACS):c.237dup (p.Ser80fs)
|
rs770311689
|
|
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
|
|
|
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
|
|
|
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
|
|
|
NM_014363.6(SACS):c.257del (p.Gly86fs)
|
|
|
NM_014363.6(SACS):c.2620del (p.Ser874fs)
|
|
|
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
|
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs)
|
rs1326359185
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
NM_014363.6(SACS):c.2938_2939del (p.Met980fs)
|
rs1593133306
|
|
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)
|
rs1450257625
|
|
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys)
|
rs144267558
|
|
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
|
|
|
NM_014363.6(SACS):c.3557del (p.Met1186fs)
|
|
|
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
|
|
|
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
|
|
|
NM_014363.6(SACS):c.414C>G (p.Tyr138Ter)
|
rs199474695
|
|
NM_014363.6(SACS):c.4168del (p.Ile1391fs)
|
rs1555252465
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233_4236del (p.Leu1412fs)
|
|
|
NM_014363.6(SACS):c.429_430del (p.Trp144fs)
|
|
|
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
|
|
|
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
|
|
|
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
|
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
|
|
|
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
|
|
|
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
|
|
|
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
|
|
|
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
|
|
|
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
|
|
|
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)
|
rs1057516580
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
NM_014363.6(SACS):c.4954C>T (p.Gln1652Ter)
|
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
|
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
|
|
|
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.5809dup (p.Leu1937fs)
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.604+1_604+4del
|
|
|
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
|
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
|
rs1555251853
|
|
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.654del (p.Gln219fs)
|
|
|
NM_014363.6(SACS):c.6837dup (p.Glu2280fs)
|
rs748765057
|
|
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
|
|
|
NM_014363.6(SACS):c.6941A>C (p.Asn2314Thr)
|
rs1868664491
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7080_7084del (p.His2362fs)
|
rs1294102415
|
|
NM_014363.6(SACS):c.708del (p.Asp236fs)
|
|
|
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)
|
rs1057517222
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)
|
rs2137602382
|
|
NM_014363.6(SACS):c.7255_7259del (p.Glu2419fs)
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
|
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
|
|
|
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
|
|
|
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.8239dup (p.Ile2747fs)
|
|
|
NM_014363.6(SACS):c.826C>T (p.Arg276Cys)
|
|
|
NM_014363.6(SACS):c.8340del (p.His2781fs)
|
rs753958013
|
|
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
|
|
|
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
|
|
|
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)
|
rs1555250991
|
|
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)
|
rs1555250987
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
|
|
|
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
|
|
|
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
|
|
|
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
|
|
|
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
|
|
|
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
|
|
|
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
|
|
|
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)
|
rs1057517349
|
|
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
|
|
|
NM_014363.6(SACS):c.961C>T (p.Arg321Ter)
|
rs1175545518
|
|
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
|
|
|
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
|
|
|
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
|
|
|
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
|
|
|
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
|
|
|
NM_014363.6(SACS):c.9879del (p.Val3294fs)
|
rs2137580025
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|