NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys)
|
rs1547
|
0.14159
|
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val)
|
rs1545
|
0.14147
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_170784.3(MKKS):c.985+16T>G
|
rs6133917
|
0.14080
|
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)
|
rs61734546
|
0.01201
|
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)
|
rs150920905
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_170784.3(MKKS):c.15A>G (p.Glu5=)
|
rs145396188
|
0.00074
|
NM_170784.3(MKKS):c.699C>G (p.Ile233Met)
|
rs770801103
|
0.00070
|
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly)
|
rs147545395
|
0.00068
|
NM_170784.3(MKKS):c.1161+3A>G
|
rs192968747
|
0.00036
|
NM_170784.3(MKKS):c.231G>A (p.Leu77=)
|
rs373913834
|
0.00035
|
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln)
|
rs145045986
|
0.00031
|
NM_170784.3(MKKS):c.250C>T (p.His84Tyr)
|
rs281797258
|
0.00025
|
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys)
|
rs147882975
|
0.00022
|
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
|
rs149626732
|
0.00021
|
NM_170784.3(MKKS):c.59A>G (p.Glu20Gly)
|
rs199553497
|
0.00020
|
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)
|
rs558813240
|
0.00016
|
NM_170784.3(MKKS):c.697A>C (p.Ile233Leu)
|
rs141201812
|
0.00016
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp)
|
rs372944937
|
0.00014
|
NM_170784.3(MKKS):c.1457G>A (p.Cys486Tyr)
|
rs375952682
|
0.00012
|
NM_170784.3(MKKS):c.311A>G (p.Glu104Gly)
|
rs747959135
|
0.00012
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_170784.3(MKKS):c.1129A>G (p.Asn377Asp)
|
rs754207459
|
0.00011
|
NM_170784.3(MKKS):c.1167G>A (p.Thr389=)
|
rs367980245
|
0.00010
|
NM_170784.3(MKKS):c.926G>A (p.Arg309His)
|
rs199939179
|
0.00010
|
NM_170784.3(MKKS):c.1246C>A (p.His416Asn)
|
rs148800011
|
0.00008
|
NM_170784.3(MKKS):c.1294A>T (p.Ile432Phe)
|
rs374485160
|
0.00008
|
NM_170784.3(MKKS):c.1356T>C (p.Ser452=)
|
rs201977053
|
0.00008
|
NM_170784.3(MKKS):c.629T>C (p.Ile210Thr)
|
rs201243884
|
0.00008
|
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg)
|
rs766132697
|
0.00006
|
NM_170784.3(MKKS):c.1369G>A (p.Val457Ile)
|
rs376038160
|
0.00006
|
NM_170784.3(MKKS):c.281T>G (p.Phe94Cys)
|
rs141181516
|
0.00006
|
NM_170784.3(MKKS):c.35G>A (p.Cys12Tyr)
|
rs368277209
|
0.00006
|
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro)
|
rs201785599
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_170784.3(MKKS):c.1261A>G (p.Ile421Val)
|
rs778950712
|
0.00005
|
NM_170784.3(MKKS):c.1454C>T (p.Pro485Leu)
|
rs139509933
|
0.00005
|
NM_170784.3(MKKS):c.874C>T (p.Leu292=)
|
rs758645426
|
0.00005
|
NM_170784.3(MKKS):c.1511G>A (p.Ser504Asn)
|
rs776107451
|
0.00004
|
NM_170784.3(MKKS):c.202T>G (p.Leu68Val)
|
rs200836375
|
0.00004
|
NM_170784.3(MKKS):c.463C>T (p.Arg155Cys)
|
rs755050269
|
0.00004
|
NM_170784.3(MKKS):c.792T>C (p.Tyr264=)
|
rs74315397
|
0.00004
|
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys)
|
rs779042065
|
0.00004
|
NM_170784.3(MKKS):c.1067G>T (p.Gly356Val)
|
rs745728640
|
0.00003
|
NM_170784.3(MKKS):c.1161+4G>A
|
rs761886025
|
0.00003
|
NM_170784.3(MKKS):c.1265G>A (p.Arg422Lys)
|
rs754555322
|
0.00003
|
NM_170784.3(MKKS):c.464G>A (p.Arg155His)
|
rs138111422
|
0.00003
|
NM_170784.3(MKKS):c.749G>A (p.Gly250Glu)
|
rs972466774
|
0.00003
|
NM_170784.3(MKKS):c.822C>T (p.Asp274=)
|
rs761342904
|
0.00003
|
NM_170784.3(MKKS):c.862G>A (p.Val288Ile)
|
rs113032343
|
0.00003
|
NM_170784.3(MKKS):c.923A>G (p.His308Arg)
|
rs967873180
|
0.00003
|
NM_170784.3(MKKS):c.1085A>G (p.His362Arg)
|
rs373858682
|
0.00002
|
NM_170784.3(MKKS):c.1169G>A (p.Cys390Tyr)
|
rs1361214616
|
0.00002
|
NM_170784.3(MKKS):c.1282G>A (p.Asp428Asn)
|
rs779416496
|
0.00002
|
NM_170784.3(MKKS):c.1318C>G (p.Gln440Glu)
|
rs772537800
|
0.00002
|
NM_170784.3(MKKS):c.282C>T (p.Phe94=)
|
rs769886552
|
0.00002
|
NM_170784.3(MKKS):c.297C>T (p.Cys99=)
|
rs748395304
|
0.00002
|
NM_170784.3(MKKS):c.363A>C (p.Lys121Asn)
|
rs745313480
|
0.00002
|
NM_170784.3(MKKS):c.429C>T (p.Asp143=)
|
rs760963161
|
0.00002
|
NM_170784.3(MKKS):c.432T>C (p.Phe144=)
|
rs1183097312
|
0.00002
|
NM_170784.3(MKKS):c.554C>T (p.Thr185Ile)
|
rs1321192032
|
0.00002
|
NM_170784.3(MKKS):c.871G>A (p.Val291Ile)
|
rs910468710
|
0.00002
|
NM_170784.3(MKKS):c.1006C>G (p.Leu336Val)
|
rs759986531
|
0.00001
|
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu)
|
rs779116830
|
0.00001
|
NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr)
|
rs1401483166
|
0.00001
|
NM_170784.3(MKKS):c.1059A>G (p.Ala353=)
|
rs768799434
|
0.00001
|
NM_170784.3(MKKS):c.1075C>T (p.His359Tyr)
|
rs1414454066
|
0.00001
|
NM_170784.3(MKKS):c.1104A>G (p.Ala368=)
|
rs752192391
|
0.00001
|
NM_170784.3(MKKS):c.1106C>T (p.Thr369Ile)
|
rs2064859757
|
0.00001
|
NM_170784.3(MKKS):c.1127G>T (p.Cys376Phe)
|
rs1029793006
|
0.00001
|
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met)
|
rs201183584
|
0.00001
|
NM_170784.3(MKKS):c.1226G>T (p.Gly409Val)
|
rs2064852512
|
0.00001
|
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter)
|
rs1306231185
|
0.00001
|
NM_170784.3(MKKS):c.1259A>G (p.Tyr420Cys)
|
rs748071139
|
0.00001
|
NM_170784.3(MKKS):c.1269C>T (p.His423=)
|
rs144313303
|
0.00001
|
NM_170784.3(MKKS):c.1272+17T>G
|
rs1433995589
|
0.00001
|
NM_170784.3(MKKS):c.1272+18C>T
|
rs757800590
|
0.00001
|
NM_170784.3(MKKS):c.1274C>T (p.Thr425Ile)
|
rs951838467
|
0.00001
|
NM_170784.3(MKKS):c.1280A>G (p.Asn427Ser)
|
rs776235071
|
0.00001
|
NM_170784.3(MKKS):c.1291A>G (p.Ser431Gly)
|
rs993196591
|
0.00001
|
NM_170784.3(MKKS):c.130A>C (p.Lys44Gln)
|
rs2064910872
|
0.00001
|
NM_170784.3(MKKS):c.1360C>T (p.Leu454=)
|
rs1210784201
|
0.00001
|
NM_170784.3(MKKS):c.1422T>C (p.Tyr474=)
|
rs777980292
|
0.00001
|
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter)
|
rs753180214
|
0.00001
|
NM_170784.3(MKKS):c.146G>T (p.Gly49Val)
|
rs528833454
|
0.00001
|
NM_170784.3(MKKS):c.1505A>G (p.Tyr502Cys)
|
rs749139446
|
0.00001
|
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp)
|
rs28937875
|
0.00001
|
NM_170784.3(MKKS):c.1578T>G (p.Leu526=)
|
rs756442707
|
0.00001
|
NM_170784.3(MKKS):c.1599A>T (p.Ser533=)
|
rs767432410
|
0.00001
|
NM_170784.3(MKKS):c.1606A>G (p.Asn536Asp)
|
rs1309710762
|
0.00001
|
NM_170784.3(MKKS):c.1645C>T (p.Leu549=)
|
rs1010755325
|
0.00001
|
NM_170784.3(MKKS):c.1695T>C (p.Val565=)
|
rs554395344
|
0.00001
|
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)
|
rs74315399
|
0.00001
|
NM_170784.3(MKKS):c.210A>C (p.Thr70=)
|
rs1471154105
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_170784.3(MKKS):c.273T>C (p.Cys91=)
|
rs1358889476
|
0.00001
|
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter)
|
rs758356262
|
0.00001
|
NM_170784.3(MKKS):c.307A>G (p.Ile103Val)
|
rs771002171
|
0.00001
|
NM_170784.3(MKKS):c.30A>T (p.Ser10=)
|
rs752207403
|
0.00001
|
NM_170784.3(MKKS):c.31T>A (p.Leu11Met)
|
rs1443376346
|
0.00001
|
NM_170784.3(MKKS):c.364C>T (p.His122Tyr)
|
rs148221053
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
0.00001
|
NM_170784.3(MKKS):c.430T>C (p.Phe144Leu)
|
rs768539582
|
0.00001
|
NM_170784.3(MKKS):c.512C>G (p.Thr171Arg)
|
rs1303349629
|
0.00001
|
NM_170784.3(MKKS):c.525T>C (p.Ser175=)
|
rs745771800
|
0.00001
|
NM_170784.3(MKKS):c.541G>A (p.Ala181Thr)
|
rs1215659134
|
0.00001
|
NM_170784.3(MKKS):c.638C>G (p.Thr213Ser)
|
rs780570415
|
0.00001
|
NM_170784.3(MKKS):c.642A>G (p.Val214=)
|
rs750470997
|
0.00001
|
NM_170784.3(MKKS):c.709A>G (p.Thr237Ala)
|
rs760185677
|
0.00001
|
NM_170784.3(MKKS):c.734G>A (p.Cys245Tyr)
|
rs771767882
|
0.00001
|
NM_170784.3(MKKS):c.747C>T (p.Ser249=)
|
rs187543885
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_170784.3(MKKS):c.780G>A (p.Val260=)
|
rs781401127
|
0.00001
|
NM_170784.3(MKKS):c.783G>C (p.Val261=)
|
rs751761252
|
0.00001
|
NM_170784.3(MKKS):c.803T>G (p.Leu268Arg)
|
rs375902906
|
0.00001
|
NM_170784.3(MKKS):c.834C>G (p.Asn278Lys)
|
rs575896442
|
0.00001
|
NM_170784.3(MKKS):c.837del (p.Gly280fs)
|
rs776004321
|
0.00001
|
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr)
|
rs147704542
|
0.00001
|
NM_170784.3(MKKS):c.8G>A (p.Arg3His)
|
rs770619894
|
0.00001
|
NM_170784.3(MKKS):c.945A>G (p.Arg315=)
|
rs763720494
|
0.00001
|
NM_170784.3(MKKS):c.947T>C (p.Ile316Thr)
|
rs370219365
|
0.00001
|
NM_170784.3(MKKS):c.986-10T>G
|
rs368654512
|
0.00001
|
NC_000020.10:g.(?_10256140)_(10654178_?)dup
|
|
|
NC_000020.11:g.(?_10405227)_(10413534_?)del
|
|
|
NM_170784.3(MKKS):c.1008A>G (p.Leu336=)
|
rs973676101
|
|
NM_170784.3(MKKS):c.1011C>T (p.Gly337=)
|
|
|
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter)
|
rs2122226112
|
|
NM_170784.3(MKKS):c.1032T>C (p.Tyr344=)
|
|
|
NM_170784.3(MKKS):c.1037G>A (p.Ser346Asn)
|
|
|
NM_170784.3(MKKS):c.1044A>G (p.Lys348=)
|
|
|
NM_170784.3(MKKS):c.1047T>C (p.Asp349=)
|
|
|
NM_170784.3(MKKS):c.105A>T (p.Ser35=)
|
|
|
NM_170784.3(MKKS):c.1073A>G (p.Lys358Arg)
|
rs1455491260
|
|
NM_170784.3(MKKS):c.1088T>C (p.Leu363Pro)
|
rs2064859899
|
|
NM_170784.3(MKKS):c.1095T>C (p.Pro365=)
|
|
|
NM_170784.3(MKKS):c.1110C>T (p.Ile370=)
|
|
|
NM_170784.3(MKKS):c.1111T>A (p.Cys371Ser)
|
rs144892179
|
|
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
|
|
|
NM_170784.3(MKKS):c.111T>C (p.Tyr37=)
|
|
|
NM_170784.3(MKKS):c.1125C>T (p.Leu375=)
|
|
|
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
|
|
|
NM_170784.3(MKKS):c.1161+13_1161+19dup
|
|
|
NM_170784.3(MKKS):c.1161+16del
|
|
|
NM_170784.3(MKKS):c.1161+17G>C
|
|
|
NM_170784.3(MKKS):c.1162-10T>G
|
|
|
NM_170784.3(MKKS):c.1162-11T>C
|
|
|
NM_170784.3(MKKS):c.1162-12del
|
rs781066396
|
|
NM_170784.3(MKKS):c.1162-15T>G
|
|
|
NM_170784.3(MKKS):c.1162-5C>G
|
|
|
NM_170784.3(MKKS):c.1162-7T>C
|
|
|
NM_170784.3(MKKS):c.1164C>T (p.Leu388=)
|
rs1302683154
|
|
NM_170784.3(MKKS):c.1167G>C (p.Thr389=)
|
|
|
NM_170784.3(MKKS):c.1167G>T (p.Thr389=)
|
|
|
NM_170784.3(MKKS):c.1170T>C (p.Cys390=)
|
|
|
NM_170784.3(MKKS):c.1176G>A (p.Thr392=)
|
rs1441106610
|
|
NM_170784.3(MKKS):c.1181del (p.Leu394fs)
|
rs2122223967
|
|
NM_170784.3(MKKS):c.1183C>T (p.His395Tyr)
|
|
|
NM_170784.3(MKKS):c.1189C>G (p.Leu397Val)
|
|
|
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
|
|
|
NM_170784.3(MKKS):c.1191G>A (p.Leu397=)
|
|
|
NM_170784.3(MKKS):c.1203C>T (p.Leu401=)
|
|
|
NM_170784.3(MKKS):c.120A>C (p.Ser40=)
|
|
|
NM_170784.3(MKKS):c.1213T>C (p.Trp405Arg)
|
|
|
NM_170784.3(MKKS):c.1222T>C (p.Leu408=)
|
|
|
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs)
|
rs1421664374
|
|
NM_170784.3(MKKS):c.123T>A (p.Gly41=)
|
|
|
NM_170784.3(MKKS):c.1257A>G (p.Ala419=)
|
|
|
NM_170784.3(MKKS):c.1260T>C (p.Tyr420=)
|
|
|
NM_170784.3(MKKS):c.1266A>G (p.Arg422=)
|
rs1424059028
|
|
NM_170784.3(MKKS):c.1267C>T (p.His423Tyr)
|
rs2122223791
|
|
NM_170784.3(MKKS):c.1272+11T>C
|
|
|
NM_170784.3(MKKS):c.1272+14T>A
|
|
|
NM_170784.3(MKKS):c.1272+14T>C
|
|
|
NM_170784.3(MKKS):c.1272+16C>G
|
|
|
NM_170784.3(MKKS):c.1272+1G>A
|
rs755716827
|
|
NM_170784.3(MKKS):c.1272+20T>C
|
|
|
NM_170784.3(MKKS):c.1272+2T>C
|
|
|
NM_170784.3(MKKS):c.1272+6T>C
|
rs2064851919
|
|
NM_170784.3(MKKS):c.1272+7A>G
|
rs1209169319
|
|
NM_170784.3(MKKS):c.1272+8A>G
|
|
|
NM_170784.3(MKKS):c.1272+9G>A
|
|
|
NM_170784.3(MKKS):c.1273-8C>T
|
|
|
NM_170784.3(MKKS):c.1273-9A>G
|
rs1239375783
|
|
NM_170784.3(MKKS):c.1278C>T (p.His426=)
|
|
|
NM_170784.3(MKKS):c.1281C>T (p.Asn427=)
|
|
|
NM_170784.3(MKKS):c.128T>G (p.Leu43Arg)
|
rs1364157544
|
|
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs)
|
rs2122220131
|
|
NM_170784.3(MKKS):c.1299C>G (p.Leu433=)
|
|
|
NM_170784.3(MKKS):c.1299C>T (p.Leu433=)
|
|
|
NM_170784.3(MKKS):c.1304A>T (p.Asp435Val)
|
|
|
NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1307A>T (p.Asp436Val)
|
rs746696111
|
|
NM_170784.3(MKKS):c.1311A>G (p.Glu437=)
|
|
|
NM_170784.3(MKKS):c.1312T>G (p.Cys438Gly)
|
|
|
NM_170784.3(MKKS):c.1332A>G (p.Gln444=)
|
|
|
NM_170784.3(MKKS):c.1333T>A (p.Leu445Ile)
|
rs754132134
|
|
NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser)
|
rs1057516054
|
|
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
|
|
|
NM_170784.3(MKKS):c.135G>A (p.Gln45=)
|
rs976383350
|
|
NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs)
|
rs2122220042
|
|
NM_170784.3(MKKS):c.1368T>C (p.Ser456=)
|
|
|
NM_170784.3(MKKS):c.1372G>T (p.Val458Phe)
|
rs1600843195
|
|
NM_170784.3(MKKS):c.1377C>T (p.Gly459=)
|
|
|
NM_170784.3(MKKS):c.1380T>C (p.Ser460=)
|
|
|
NM_170784.3(MKKS):c.1402A>G (p.Ile468Val)
|
|
|
NM_170784.3(MKKS):c.1404T>C (p.Ile468=)
|
|
|
NM_170784.3(MKKS):c.1410T>C (p.Thr470=)
|
|
|
NM_170784.3(MKKS):c.1410T>G (p.Thr470=)
|
|
|
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
|
|
|
NM_170784.3(MKKS):c.1432T>A (p.Trp478Arg)
|
|
|
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
|
|
|
NM_170784.3(MKKS):c.1437A>G (p.Ser479=)
|
|
|
NM_170784.3(MKKS):c.1438G>A (p.Val480Ile)
|
|
|
NM_170784.3(MKKS):c.1445C>A (p.Ala482Glu)
|
|
|
NM_170784.3(MKKS):c.1447G>T (p.Asp483Tyr)
|
|
|
NM_170784.3(MKKS):c.1464T>C (p.Ala488=)
|
rs2122219775
|
|
NM_170784.3(MKKS):c.1470G>T (p.Trp490Cys)
|
rs2122219766
|
|
NM_170784.3(MKKS):c.1474G>A (p.Asp492Asn)
|
rs142327258
|
|
NM_170784.3(MKKS):c.1474G>C (p.Asp492His)
|
rs142327258
|
|
NM_170784.3(MKKS):c.147C>T (p.Gly49=)
|
|
|
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
|
|
|
NM_170784.3(MKKS):c.1534T>A (p.Phe512Ile)
|
rs772349046
|
|
NM_170784.3(MKKS):c.1545C>T (p.Ser515=)
|
|
|
NM_170784.3(MKKS):c.1548_1549delinsCT (p.Arg517Cys)
|
|
|
NM_170784.3(MKKS):c.1550G>A (p.Arg517His)
|
|
|
NM_170784.3(MKKS):c.1569A>G (p.Gln523=)
|
|
|
NM_170784.3(MKKS):c.1572C>T (p.Ser524=)
|
rs2122219499
|
|
NM_170784.3(MKKS):c.1573dup (p.Cys525fs)
|
rs2122219488
|
|
NM_170784.3(MKKS):c.1576C>A (p.Leu526Ile)
|
rs1239900206
|
|
NM_170784.3(MKKS):c.1580C>T (p.Pro527Leu)
|
rs2122219454
|
|
NM_170784.3(MKKS):c.1582_1587del (p.His528_Glu529del)
|
rs2122219438
|
|
NM_170784.3(MKKS):c.1583A>G (p.His528Arg)
|
|
|
NM_170784.3(MKKS):c.1589C>T (p.Ala530Val)
|
rs2122219422
|
|
NM_170784.3(MKKS):c.1591G>C (p.Val531Leu)
|
rs750705949
|
|
NM_170784.3(MKKS):c.159C>T (p.Tyr53=)
|
|
|
NM_170784.3(MKKS):c.1602C>T (p.Ala534=)
|
rs1408681070
|
|
NM_170784.3(MKKS):c.1604G>A (p.Ser535Asn)
|
|
|
NM_170784.3(MKKS):c.1605C>G (p.Ser535Arg)
|
rs889037739
|
|
NM_170784.3(MKKS):c.1605C>T (p.Ser535=)
|
|
|
NM_170784.3(MKKS):c.1608C>T (p.Asn536=)
|
|
|
NM_170784.3(MKKS):c.1611G>A (p.Leu537=)
|
|
|
NM_170784.3(MKKS):c.162G>T (p.Val54=)
|
|
|
NM_170784.3(MKKS):c.1639A>G (p.Ser547Gly)
|
rs149095209
|
|
NM_170784.3(MKKS):c.1649A>C (p.Gln550Pro)
|
|
|
NM_170784.3(MKKS):c.164G>C (p.Cys55Ser)
|
|
|
NM_170784.3(MKKS):c.1654G>A (p.Ala552Thr)
|
rs532487848
|
|
NM_170784.3(MKKS):c.1664C>G (p.Thr555Arg)
|
rs369472120
|
|
NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser)
|
rs554429487
|
|
NM_170784.3(MKKS):c.1682A>T (p.Asp561Val)
|
rs2064833443
|
|
NM_170784.3(MKKS):c.1689A>G (p.Ser563=)
|
|
|
NM_170784.3(MKKS):c.1689A>T (p.Ser563=)
|
rs147688404
|
|
NM_170784.3(MKKS):c.1692T>C (p.Tyr564=)
|
|
|
NM_170784.3(MKKS):c.1704T>C (p.Asp568=)
|
|
|
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs)
|
rs1600849412
|
|
NM_170784.3(MKKS):c.174A>C (p.Ser58=)
|
|
|
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter)
|
rs1334961999
|
|
NM_170784.3(MKKS):c.175_176del (p.Gln59fs)
|
rs2122236167
|
|
NM_170784.3(MKKS):c.180C>T (p.Ser60=)
|
rs2064909876
|
|
NM_170784.3(MKKS):c.189G>A (p.Leu63=)
|
|
|
NM_170784.3(MKKS):c.191T>C (p.Leu64Pro)
|
|
|
NM_170784.3(MKKS):c.192C>T (p.Leu64=)
|
|
|
NM_170784.3(MKKS):c.198C>T (p.His66=)
|
|
|
NM_170784.3(MKKS):c.207C>T (p.Val69=)
|
rs1382659817
|
|
NM_170784.3(MKKS):c.213T>C (p.His71=)
|
|
|
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
|
|
|
NM_170784.3(MKKS):c.251A>C (p.His84Pro)
|
rs2064908864
|
|
NM_170784.3(MKKS):c.255G>T (p.Val85=)
|
|
|
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
|
|
|
NM_170784.3(MKKS):c.259A>G (p.Ser87Gly)
|
|
|
NM_170784.3(MKKS):c.27A>C (p.Pro9=)
|
|
|
NM_170784.3(MKKS):c.288T>C (p.Ala96=)
|
|
|
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg)
|
rs1297985227
|
|
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
|
|
|
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
|
|
|
NM_170784.3(MKKS):c.302A>G (p.Asn101Ser)
|
|
|
NM_170784.3(MKKS):c.302A>T (p.Asn101Ile)
|
rs776936558
|
|
NM_170784.3(MKKS):c.303C>T (p.Asn101=)
|
|
|
NM_170784.3(MKKS):c.30A>G (p.Ser10=)
|
|
|
NM_170784.3(MKKS):c.318T>G (p.Val106=)
|
|
|
NM_170784.3(MKKS):c.327A>G (p.Leu109=)
|
|
|
NM_170784.3(MKKS):c.334A>T (p.Thr112Ser)
|
|
|
NM_170784.3(MKKS):c.335C>G (p.Thr112Arg)
|
|
|
NM_170784.3(MKKS):c.336A>G (p.Thr112=)
|
|
|
NM_170784.3(MKKS):c.33G>A (p.Leu11=)
|
|
|
NM_170784.3(MKKS):c.357A>G (p.Leu119=)
|
|
|
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
|
|
|
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs)
|
rs2122235619
|
|
NM_170784.3(MKKS):c.390T>C (p.Tyr130=)
|
|
|
NM_170784.3(MKKS):c.393C>G (p.Leu131=)
|
|
|
NM_170784.3(MKKS):c.393C>T (p.Leu131=)
|
|
|
NM_170784.3(MKKS):c.405C>T (p.Thr135=)
|
|
|
NM_170784.3(MKKS):c.409G>A (p.Gly137Ser)
|
rs1222401134
|
|
NM_170784.3(MKKS):c.40A>T (p.Ser14Cys)
|
rs2064912754
|
|
NM_170784.3(MKKS):c.411T>A (p.Gly137=)
|
|
|
NM_170784.3(MKKS):c.411T>C (p.Gly137=)
|
|
|
NM_170784.3(MKKS):c.415C>A (p.Arg139=)
|
|
|
NM_170784.3(MKKS):c.425T>C (p.Val142Ala)
|
rs863224773
|
|
NM_170784.3(MKKS):c.432_435del (p.Phe144fs)
|
rs1225932577
|
|
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
|
|
|
NM_170784.3(MKKS):c.435T>C (p.Ser145=)
|
|
|
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
|
|
|
NM_170784.3(MKKS):c.462G>A (p.Val154=)
|
|
|
NM_170784.3(MKKS):c.469A>G (p.Ile157Val)
|
|
|
NM_170784.3(MKKS):c.47C>T (p.Pro16Leu)
|
|
|
NM_170784.3(MKKS):c.47del (p.Pro16fs)
|
rs1224308508
|
|
NM_170784.3(MKKS):c.498C>T (p.Leu166=)
|
rs767797613
|
|
NM_170784.3(MKKS):c.504A>G (p.Arg168=)
|
|
|
NM_170784.3(MKKS):c.511A>G (p.Thr171Ala)
|
|
|
NM_170784.3(MKKS):c.513A>G (p.Thr171=)
|
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
NM_170784.3(MKKS):c.522C>G (p.Val174=)
|
|
|
NM_170784.3(MKKS):c.529T>C (p.Leu177=)
|
|
|
NM_170784.3(MKKS):c.538A>G (p.Arg180Gly)
|
rs1331122376
|
|
NM_170784.3(MKKS):c.53C>T (p.Thr18Ile)
|
|
|
NM_170784.3(MKKS):c.540A>G (p.Arg180=)
|
|
|
NM_170784.3(MKKS):c.547T>C (p.Leu183=)
|
|
|
NM_170784.3(MKKS):c.561A>C (p.Pro187=)
|
|
|
NM_170784.3(MKKS):c.570T>C (p.Ala190=)
|
rs1191520552
|
|
NM_170784.3(MKKS):c.573A>C (p.Glu191Asp)
|
|
|
NM_170784.3(MKKS):c.582C>A (p.Ile194=)
|
rs2064903385
|
|
NM_170784.3(MKKS):c.591A>G (p.Gly197=)
|
|
|
NM_170784.3(MKKS):c.594G>A (p.Lys198=)
|
|
|
NM_170784.3(MKKS):c.602T>C (p.Ile201Thr)
|
|
|
NM_170784.3(MKKS):c.607C>T (p.Pro203Ser)
|
|
|
NM_170784.3(MKKS):c.621A>G (p.Gln207=)
|
|
|
NM_170784.3(MKKS):c.628A>G (p.Ile210Val)
|
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_170784.3(MKKS):c.648T>A (p.Pro216=)
|
|
|
NM_170784.3(MKKS):c.64G>A (p.Val22Ile)
|
|
|
NM_170784.3(MKKS):c.657C>A (p.Leu219=)
|
|
|
NM_170784.3(MKKS):c.657C>T (p.Leu219=)
|
|
|
NM_170784.3(MKKS):c.659T>C (p.Ile220Thr)
|
|
|
NM_170784.3(MKKS):c.65T>A (p.Val22Asp)
|
|
|
NM_170784.3(MKKS):c.663A>G (p.Glu221=)
|
|
|
NM_170784.3(MKKS):c.66C>A (p.Val22=)
|
|
|
NM_170784.3(MKKS):c.66C>G (p.Val22=)
|
|
|
NM_170784.3(MKKS):c.676C>G (p.Gln226Glu)
|
|
|
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter)
|
rs2122234652
|
|
NM_170784.3(MKKS):c.678A>G (p.Gln226=)
|
|
|
NM_170784.3(MKKS):c.687G>A (p.Arg229=)
|
|
|
NM_170784.3(MKKS):c.689T>A (p.Leu230Gln)
|
rs2122234625
|
|
NM_170784.3(MKKS):c.690A>G (p.Leu230=)
|
|
|
NM_170784.3(MKKS):c.69G>C (p.Arg23Ser)
|
|
|
NM_170784.3(MKKS):c.6T>C (p.Ser2=)
|
|
|
NM_170784.3(MKKS):c.708A>G (p.Ser236=)
|
|
|
NM_170784.3(MKKS):c.715C>T (p.Leu239Phe)
|
rs2064901215
|
|
NM_170784.3(MKKS):c.717C>T (p.Leu239=)
|
rs1214711344
|
|
NM_170784.3(MKKS):c.727C>T (p.Leu243Phe)
|
rs2064900976
|
|
NM_170784.3(MKKS):c.729C>G (p.Leu243=)
|
|
|
NM_170784.3(MKKS):c.729C>T (p.Leu243=)
|
|
|
NM_170784.3(MKKS):c.732T>C (p.Phe244=)
|
|
|
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
|
|
|
NM_170784.3(MKKS):c.738A>G (p.Thr246=)
|
|
|
NM_170784.3(MKKS):c.744A>T (p.Leu248Phe)
|
rs2122234451
|
|
NM_170784.3(MKKS):c.746C>T (p.Ser249Phe)
|
|
|
NM_170784.3(MKKS):c.751G>C (p.Asp251His)
|
rs2064900610
|
|
NM_170784.3(MKKS):c.763A>G (p.Thr255Ala)
|
|
|
NM_170784.3(MKKS):c.763dup (p.Thr255fs)
|
rs2122234387
|
|
NM_170784.3(MKKS):c.764C>T (p.Thr255Ile)
|
rs2064900423
|
|
NM_170784.3(MKKS):c.765T>C (p.Thr255=)
|
|
|
NM_170784.3(MKKS):c.76C>G (p.Leu26Val)
|
|
|
NM_170784.3(MKKS):c.783G>A (p.Val261=)
|
|
|
NM_170784.3(MKKS):c.783G>T (p.Val261=)
|
|
|
NM_170784.3(MKKS):c.787A>T (p.Ser263Cys)
|
rs764332400
|
|
NM_170784.3(MKKS):c.796G>T (p.Val266Phe)
|
rs2064899855
|
|
NM_170784.3(MKKS):c.801T>G (p.Ser267=)
|
|
|
NM_170784.3(MKKS):c.81T>C (p.Ser27=)
|
|
|
NM_170784.3(MKKS):c.820G>A (p.Asp274Asn)
|
rs2064899452
|
|
NM_170784.3(MKKS):c.825G>T (p.Gln275His)
|
|
|
NM_170784.3(MKKS):c.832A>G (p.Asn278Asp)
|
rs578252932
|
|
NM_170784.3(MKKS):c.834C>T (p.Asn278=)
|
|
|
NM_170784.3(MKKS):c.842G>C (p.Arg281Thr)
|
|
|
NM_170784.3(MKKS):c.843G>A (p.Arg281=)
|
|
|
NM_170784.3(MKKS):c.858C>T (p.Asp286=)
|
|
|
NM_170784.3(MKKS):c.859C>A (p.His287Asn)
|
|
|
NM_170784.3(MKKS):c.861C>T (p.His287=)
|
|
|
NM_170784.3(MKKS):c.864A>C (p.Val288=)
|
|
|
NM_170784.3(MKKS):c.867dup (p.Leu290fs)
|
rs2122234051
|
|
NM_170784.3(MKKS):c.875T>G (p.Leu292Arg)
|
|
|
NM_170784.3(MKKS):c.889A>G (p.Ile297Val)
|
|
|
NM_170784.3(MKKS):c.889dup (p.Ile297fs)
|
rs2122233990
|
|
NM_170784.3(MKKS):c.891A>G (p.Ile297Met)
|
rs2064898329
|
|
NM_170784.3(MKKS):c.897A>G (p.Pro299=)
|
|
|
NM_170784.3(MKKS):c.8G>C (p.Arg3Pro)
|
rs770619894
|
|
NM_170784.3(MKKS):c.922C>A (p.His308Asn)
|
rs1600848359
|
|
NM_170784.3(MKKS):c.937A>G (p.Ile313Val)
|
|
|
NM_170784.3(MKKS):c.940_941del (p.Asp314fs)
|
rs2064897670
|
|
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
|
|
|
NM_170784.3(MKKS):c.94A>G (p.Ile32Val)
|
rs578110162
|
|
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
|
|
|
NM_170784.3(MKKS):c.955A>T (p.Thr319Ser)
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NM_170784.3(MKKS):c.957_958insATGGCA (p.Thr319_Leu320insMetAla)
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NM_170784.3(MKKS):c.958_959del (p.Leu320fs)
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rs770908659
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NM_170784.3(MKKS):c.966del (p.Glu322fs)
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NM_170784.3(MKKS):c.969C>G (p.Pro323=)
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rs762646572
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NM_170784.3(MKKS):c.972G>T (p.Leu324=)
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NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer)
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rs2122236468
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NM_170784.3(MKKS):c.985+13C>G
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NM_170784.3(MKKS):c.985+13_985+14del
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rs2122233659
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NM_170784.3(MKKS):c.985+20T>C
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NM_170784.3(MKKS):c.985+7A>G
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NM_170784.3(MKKS):c.985+9C>T
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NM_170784.3(MKKS):c.986-10del
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NM_170784.3(MKKS):c.986-13C>T
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NM_170784.3(MKKS):c.986-19T>C
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NM_170784.3(MKKS):c.986-4dup
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NM_170784.3(MKKS):c.986-9A>G
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NM_170784.3(MKKS):c.987A>G (p.Gly329=)
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NM_170784.3(MKKS):c.993G>A (p.Gln331=)
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NM_170784.3(MKKS):c.9T>G (p.Arg3=)
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