|
NM_000455.5(STK11):c.*616T>C
|
rs10415095
|
0.57700
|
|
NM_000455.5(STK11):c.375-49G>A
|
rs34928889
|
0.45190
|
|
NM_000455.5(STK11):c.290+36G>T
|
rs3764640
|
0.25746
|
|
NM_000455.5(STK11):c.374+24G>T
|
rs2075604
|
0.18985
|
|
NM_000455.5(STK11):c.920+7G>C
|
rs2075607
|
0.16357
|
|
NM_000455.5(STK11):c.*685C>A
|
rs111773256
|
0.05323
|
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
|
NM_000455.5(STK11):c.264C>A (p.Ile88=)
|
rs56354945
|
0.02303
|
|
NM_000455.5(STK11):c.734+41T>C
|
rs115624397
|
0.02258
|
|
NM_000455.5(STK11):c.-1024C>T
|
rs147615524
|
0.01666
|
|
NM_000455.5(STK11):c.-311C>T
|
rs149756065
|
0.01265
|
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00636
|
|
NM_000455.4(STK11):c.*365C>G
|
rs535975204
|
0.00633
|
|
NM_000455.5(STK11):c.-127T>C
|
rs532196225
|
0.00374
|
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
|
NM_000455.5(STK11):c.*613C>T
|
rs543187681
|
0.00300
|
|
NM_000455.5(STK11):c.*629C>T
|
rs368014506
|
0.00230
|
|
NM_000455.5(STK11):c.-577C>T
|
rs560480063
|
0.00210
|
|
NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
|
NM_000455.5(STK11):c.-893C>T
|
rs867696290
|
0.00167
|
|
NM_000455.5(STK11):c.*460G>A
|
rs558582150
|
0.00147
|
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
|
NM_000455.5(STK11):c.*317C>G
|
rs550127419
|
0.00115
|
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
|
NM_000455.5(STK11):c.-580G>A
|
rs548605358
|
0.00098
|
|
NM_000455.5(STK11):c.920+32G>A
|
rs374147918
|
0.00080
|
|
NM_000455.5(STK11):c.*16+10G>A
|
rs587781180
|
0.00077
|
|
NM_000455.5(STK11):c.597+14del
|
rs536282050
|
0.00067
|
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
|
NM_000455.5(STK11):c.-274C>T
|
rs372994361
|
0.00049
|
|
NM_000455.5(STK11):c.-590C>T
|
rs1050439702
|
0.00048
|
|
NM_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
|
NM_000455.5(STK11):c.*631G>A
|
rs565456677
|
0.00036
|
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
|
NM_000455.5(STK11):c.*202C>G
|
rs886054220
|
0.00034
|
|
NM_000455.5(STK11):c.*347G>A
|
rs950829868
|
0.00034
|
|
NM_000455.5(STK11):c.-775G>A
|
rs868538577
|
0.00032
|
|
NM_000455.5(STK11):c.*353C>A
|
rs866183878
|
0.00031
|
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
|
NM_000455.5(STK11):c.-137C>T
|
rs527710714
|
0.00027
|
|
NM_000455.5(STK11):c.*668C>A
|
rs1045495924
|
0.00025
|
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
|
NM_000455.5(STK11):c.290+22C>T
|
rs371255627
|
0.00023
|
|
NM_000455.5(STK11):c.-806C>T
|
rs1368940227
|
0.00021
|
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
|
NM_000455.5(STK11):c.*678G>A
|
rs532639857
|
0.00019
|
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
|
NM_000455.5(STK11):c.597+8C>T
|
rs565387911
|
0.00017
|
|
NM_000455.5(STK11):c.*332C>T
|
rs1034644018
|
0.00016
|
|
NM_000455.5(STK11):c.-461G>A
|
rs552610464
|
0.00016
|
|
NM_000455.5(STK11):c.-55C>T
|
rs886054215
|
0.00015
|
|
NM_000455.5(STK11):c.920+12C>T
|
rs186518799
|
0.00014
|
|
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp)
|
rs556651007
|
0.00013
|
|
NM_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
|
NM_000455.5(STK11):c.900C>T (p.Ile300=)
|
rs546089394
|
0.00011
|
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
|
NM_000455.5(STK11):c.-562G>C
|
rs187649480
|
0.00009
|
|
NM_000455.5(STK11):c.734+15C>G
|
rs766782311
|
0.00009
|
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
|
NM_000455.5(STK11):c.863-14C>T
|
rs756001994
|
0.00009
|
|
NM_000455.5(STK11):c.598-7G>A
|
rs377502057
|
0.00008
|
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
|
NM_000455.5(STK11):c.*348C>G
|
rs983491595
|
0.00007
|
|
NM_000455.5(STK11):c.-2G>T
|
rs774072752
|
0.00007
|
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
|
NM_000455.5(STK11):c.734+20G>A
|
rs375315233
|
0.00007
|
|
NM_000455.5(STK11):c.863-16G>A
|
rs373096204
|
0.00007
|
|
NM_000455.5(STK11):c.*201G>A
|
rs528679025
|
0.00006
|
|
NM_000455.5(STK11):c.-447C>T
|
rs867231569
|
0.00006
|
|
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn)
|
rs368547224
|
0.00006
|
|
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys)
|
rs759473833
|
0.00006
|
|
NM_000455.5(STK11):c.1109-21C>T
|
rs371145906
|
0.00006
|
|
NM_000455.5(STK11):c.1257C>T (p.Ser419=)
|
rs375328708
|
0.00006
|
|
NM_000455.5(STK11):c.125G>T (p.Arg42Leu)
|
rs148830698
|
0.00006
|
|
NM_000455.5(STK11):c.734+17C>G
|
rs751929304
|
0.00006
|
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
|
NM_000455.5(STK11):c.920+28C>T
|
rs371039379
|
0.00006
|
|
NM_000455.5(STK11):c.921-10G>A
|
rs183406870
|
0.00006
|
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
|
NM_000455.5(STK11):c.*113T>G
|
rs760703775
|
0.00005
|
|
NM_000455.5(STK11):c.*413C>A
|
rs533940465
|
0.00005
|
|
NM_000455.5(STK11):c.*603T>G
|
rs1220161134
|
0.00005
|
|
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp)
|
rs587780715
|
0.00005
|
|
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly)
|
rs757369900
|
0.00005
|
|
NM_000455.5(STK11):c.237C>T (p.Ile79=)
|
rs751859508
|
0.00005
|
|
NM_000455.5(STK11):c.290+17G>A
|
rs749909818
|
0.00005
|
|
NM_000455.5(STK11):c.366G>A (p.Lys122=)
|
rs376969448
|
0.00005
|
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
|
NM_000455.5(STK11):c.465-18G>T
|
rs587781177
|
0.00005
|
|
NM_000455.5(STK11):c.465-5C>T
|
rs567202367
|
0.00005
|
|
NM_000455.5(STK11):c.666C>T (p.Pro222=)
|
rs542189325
|
0.00005
|
|
NM_000455.5(STK11):c.678C>T (p.Asn226=)
|
rs748832988
|
0.00005
|
|
NM_000455.5(STK11):c.920+6C>T
|
rs730881964
|
0.00005
|
|
NM_000455.5(STK11):c.970C>G (p.Pro324Ala)
|
rs549474196
|
0.00005
|
|
NM_000455.5(STK11):c.-167C>T
|
rs1273032629
|
0.00004
|
|
NM_000455.5(STK11):c.-520C>T
|
rs886054208
|
0.00004
|
|
NM_000455.5(STK11):c.1044C>T (p.Asp348=)
|
rs778274196
|
0.00004
|
|
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys)
|
rs553752236
|
0.00004
|
|
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile)
|
rs587778695
|
0.00004
|
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
|
NM_000455.5(STK11):c.1109-5C>T
|
rs587782020
|
0.00004
|
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00004
|
|
NM_000455.5(STK11):c.290+18G>A
|
rs757929417
|
0.00004
|
|
NM_000455.5(STK11):c.298C>G (p.Gln100Glu)
|
rs757841535
|
0.00004
|
|
NM_000455.5(STK11):c.316C>T (p.Arg106Trp)
|
rs587782115
|
0.00004
|
|
NM_000455.5(STK11):c.355A>G (p.Asn119Asp)
|
rs545015076
|
0.00004
|
|
NM_000455.5(STK11):c.368A>G (p.Gln123Arg)
|
rs764449808
|
0.00004
|
|
NM_000455.5(STK11):c.374+11C>T
|
rs368923696
|
0.00004
|
|
NM_000455.5(STK11):c.42G>A (p.Glu14=)
|
rs758769888
|
0.00004
|
|
NM_000455.5(STK11):c.432G>A (p.Pro144=)
|
rs376788924
|
0.00004
|
|
NM_000455.5(STK11):c.598-14C>T
|
rs769378511
|
0.00004
|
|
NM_000455.5(STK11):c.612C>T (p.Phe204=)
|
rs774100153
|
0.00004
|
|
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)
|
rs730881981
|
0.00004
|
|
NM_000455.5(STK11):c.631C>T (p.Arg211Trp)
|
rs185087320
|
0.00004
|
|
NM_000455.5(STK11):c.651G>A (p.Pro217=)
|
rs368348370
|
0.00004
|
|
NM_000455.5(STK11):c.723T>C (p.Ala241=)
|
rs533550278
|
0.00004
|
|
NM_000455.5(STK11):c.734+11C>T
|
rs773604294
|
0.00004
|
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
|
NM_000455.5(STK11):c.827G>T (p.Gly276Val)
|
rs749927908
|
0.00004
|
|
NM_000455.5(STK11):c.862+23C>T
|
rs200302435
|
0.00004
|
|
NM_000455.5(STK11):c.920+29G>A
|
rs191273506
|
0.00004
|
|
NM_000455.5(STK11):c.*237C>A
|
rs886054221
|
0.00003
|
|
NM_000455.5(STK11):c.-136C>T
|
rs777480684
|
0.00003
|
|
NM_000455.5(STK11):c.-229C>G
|
rs886054210
|
0.00003
|
|
NM_000455.5(STK11):c.-546G>A
|
rs886054207
|
0.00003
|
|
NM_000455.5(STK11):c.-81A>G
|
rs886054214
|
0.00003
|
|
NM_000455.5(STK11):c.1020C>T (p.Tyr340=)
|
rs786202471
|
0.00003
|
|
NM_000455.5(STK11):c.1035C>T (p.His345=)
|
rs751619208
|
0.00003
|
|
NM_000455.5(STK11):c.1060T>C (p.Phe354Leu)
|
rs1057520018
|
0.00003
|
|
NM_000455.5(STK11):c.1063G>C (p.Asp355His)
|
rs769403473
|
0.00003
|
|
NM_000455.5(STK11):c.1100C>T (p.Thr367Met)
|
rs587782835
|
0.00003
|
|
NM_000455.5(STK11):c.1106C>G (p.Pro369Arg)
|
rs1230130092
|
0.00003
|
|
NM_000455.5(STK11):c.1108+19C>T
|
rs745809310
|
0.00003
|
|
NM_000455.5(STK11):c.1118C>T (p.Pro373Leu)
|
rs876661153
|
0.00003
|
|
NM_000455.5(STK11):c.1130C>T (p.Ala377Val)
|
rs199973552
|
0.00003
|
|
NM_000455.5(STK11):c.1168G>C (p.Val390Leu)
|
rs374078532
|
0.00003
|
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
|
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln)
|
rs587782364
|
0.00003
|
|
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser)
|
rs762482152
|
0.00003
|
|
NM_000455.5(STK11):c.1263C>T (p.Ser421=)
|
rs1472814508
|
0.00003
|
|
NM_000455.5(STK11):c.291-18_291-17del
|
rs727503759
|
0.00003
|
|
NM_000455.5(STK11):c.306G>C (p.Leu102=)
|
rs370130178
|
0.00003
|
|
NM_000455.5(STK11):c.336G>C (p.Gln112His)
|
rs1555737431
|
0.00003
|
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
|
NM_000455.5(STK11):c.464+10C>T
|
rs587782445
|
0.00003
|
|
NM_000455.5(STK11):c.465-20C>T
|
rs768282654
|
0.00003
|
|
NM_000455.5(STK11):c.552C>T (p.Leu184=)
|
rs587780719
|
0.00003
|
|
NM_000455.5(STK11):c.566C>T (p.Thr189Ile)
|
rs587781515
|
0.00003
|
|
NM_000455.5(STK11):c.57G>C (p.Ser19=)
|
rs748698151
|
0.00003
|
|
NM_000455.5(STK11):c.588C>T (p.Gly196=)
|
rs769309428
|
0.00003
|
|
NM_000455.5(STK11):c.601C>T (p.Leu201=)
|
rs1490445170
|
0.00003
|
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
|
NM_000455.5(STK11):c.735-9G>C
|
rs201899557
|
0.00003
|
|
NM_000455.5(STK11):c.846C>T (p.Leu282=)
|
rs777872290
|
0.00003
|
|
NM_000455.5(STK11):c.862+12A>G
|
rs772346288
|
0.00003
|
|
NM_000455.5(STK11):c.876C>T (p.Tyr292=)
|
rs148928808
|
0.00003
|
|
NM_000455.5(STK11):c.911G>A (p.Arg304Gln)
|
rs376280361
|
0.00003
|
|
NM_000455.5(STK11):c.*388A>G
|
rs886054223
|
0.00002
|
|
NM_000455.5(STK11):c.-128G>T
|
rs1340865672
|
0.00002
|
|
NM_000455.5(STK11):c.-835C>T
|
rs1169622696
|
0.00002
|
|
NM_000455.5(STK11):c.1029C>T (p.Asp343=)
|
rs1448942333
|
0.00002
|
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00002
|
|
NM_000455.5(STK11):c.1050C>T (p.Asp350=)
|
rs779583262
|
0.00002
|
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
|
NM_000455.5(STK11):c.1109-13G>A
|
rs568152768
|
0.00002
|
|
NM_000455.5(STK11):c.1109-14C>T
|
rs780434041
|
0.00002
|
|
NM_000455.5(STK11):c.114G>T (p.Pro38=)
|
rs981179453
|
0.00002
|
|
NM_000455.5(STK11):c.1168G>A (p.Val390Met)
|
rs374078532
|
0.00002
|
|
NM_000455.5(STK11):c.1176G>A (p.Met392Ile)
|
rs746930791
|
0.00002
|
|
NM_000455.5(STK11):c.1179C>T (p.Asn393=)
|
rs863224360
|
0.00002
|
|
NM_000455.5(STK11):c.1203C>T (p.Ser401=)
|
rs764876761
|
0.00002
|
|
NM_000455.5(STK11):c.1229C>T (p.Ala410Val)
|
rs372329880
|
0.00002
|
|
NM_000455.5(STK11):c.234G>A (p.Lys78=)
|
rs766658000
|
0.00002
|
|
NM_000455.5(STK11):c.310A>G (p.Arg104Gly)
|
rs587782783
|
0.00002
|
|
NM_000455.5(STK11):c.375-11T>C
|
rs773615399
|
0.00002
|
|
NM_000455.5(STK11):c.375-8C>T
|
rs528370544
|
0.00002
|
|
NM_000455.5(STK11):c.41A>G (p.Glu14Gly)
|
rs750708224
|
0.00002
|
|
NM_000455.5(STK11):c.439C>T (p.Arg147Cys)
|
rs748464757
|
0.00002
|
|
NM_000455.5(STK11):c.463G>T (p.Gly155Trp)
|
rs763353991
|
0.00002
|
|
NM_000455.5(STK11):c.464+5G>A
|
rs587781681
|
0.00002
|
|
NM_000455.5(STK11):c.597+9G>A
|
rs863224361
|
0.00002
|
|
NM_000455.5(STK11):c.608C>T (p.Pro203Leu)
|
rs587782379
|
0.00002
|
|
NM_000455.5(STK11):c.735C>G (p.Leu245=)
|
rs773147894
|
0.00002
|
|
NM_000455.5(STK11):c.771G>A (p.Gly257=)
|
rs777998890
|
0.00002
|
|
NM_000455.5(STK11):c.828C>T (p.Gly276=)
|
rs200824447
|
0.00002
|
|
NM_000455.5(STK11):c.863-12G>A
|
rs753729414
|
0.00002
|
|
NM_000455.5(STK11):c.901C>T (p.Arg301Trp)
|
rs587780012
|
0.00002
|
|
NM_000455.5(STK11):c.944C>T (p.Pro315Leu)
|
rs766958608
|
0.00002
|
|
NM_000455.5(STK11):c.984C>G (p.Thr328=)
|
rs730881965
|
0.00002
|
|
NM_000455.5(STK11):c.*372C>T
|
rs886054222
|
0.00001
|
|
NM_000455.5(STK11):c.*494T>A
|
rs577030468
|
0.00001
|
|
NM_000455.5(STK11):c.*4del
|
rs1235043828
|
0.00001
|
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
|
NM_000455.5(STK11):c.-4C>T
|
rs1181075160
|
0.00001
|
|
NM_000455.5(STK11):c.-774C>T
|
rs1388166210
|
0.00001
|
|
NM_000455.5(STK11):c.1011G>A (p.Val337=)
|
rs1555739249
|
0.00001
|
|
NM_000455.5(STK11):c.1012G>A (p.Val338Met)
|
rs587782302
|
0.00001
|
|
NM_000455.5(STK11):c.1013T>C (p.Val338Ala)
|
rs1568712203
|
0.00001
|
|
NM_000455.5(STK11):c.1015C>G (p.Pro339Ala)
|
rs769644352
|
0.00001
|
|
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu)
|
rs567896256
|
0.00001
|
|
NM_000455.5(STK11):c.1017G>A (p.Pro339=)
|
rs773049570
|
0.00001
|
|
NM_000455.5(STK11):c.102C>T (p.Val34=)
|
rs1060503784
|
0.00001
|
|
NM_000455.5(STK11):c.1031T>C (p.Leu344Pro)
|
rs864622118
|
0.00001
|
|
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser)
|
rs375431906
|
0.00001
|
|
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr)
|
rs369744528
|
0.00001
|
|
NM_000455.5(STK11):c.1053_1058dup (p.Asp352_Leu353dup)
|
rs1264780659
|
0.00001
|
|
NM_000455.5(STK11):c.1068C>T (p.Ile356=)
|
rs187744790
|
0.00001
|
|
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn)
|
rs587778696
|
0.00001
|
|
NM_000455.5(STK11):c.108C>T (p.Tyr36=)
|
rs137853079
|
0.00001
|
|
NM_000455.5(STK11):c.10G>C (p.Val4Leu)
|
rs767300470
|
0.00001
|
|
NM_000455.5(STK11):c.1101G>A (p.Thr367=)
|
rs750954647
|
0.00001
|
|
NM_000455.5(STK11):c.1102G>A (p.Val368Met)
|
rs1311925225
|
0.00001
|
|
NM_000455.5(STK11):c.1107C>T (p.Pro369=)
|
rs376069854
|
0.00001
|
|
NM_000455.5(STK11):c.1108+11C>T
|
rs368857989
|
0.00001
|
|
NM_000455.5(STK11):c.1108+12G>A
|
rs1057521545
|
0.00001
|
|
NM_000455.5(STK11):c.1108+16G>A
|
rs770723400
|
0.00001
|
|
NM_000455.5(STK11):c.1109-15C>A
|
rs1057520799
|
0.00001
|
|
NM_000455.5(STK11):c.1109-4C>T
|
rs1407794756
|
0.00001
|
|
NM_000455.5(STK11):c.1109-8C>T
|
rs1373424237
|
0.00001
|
|
NM_000455.5(STK11):c.1114G>A (p.Val372Ile)
|
rs2080821529
|
0.00001
|
|
NM_000455.5(STK11):c.1117C>T (p.Pro373Ser)
|
rs1287849806
|
0.00001
|
|
NM_000455.5(STK11):c.1120G>A (p.Glu374Lys)
|
rs587782287
|
0.00001
|
|
NM_000455.5(STK11):c.1128G>A (p.Glu376=)
|
rs747018506
|
0.00001
|
|
NM_000455.5(STK11):c.1129G>A (p.Ala377Thr)
|
rs768870802
|
0.00001
|
|
NM_000455.5(STK11):c.1131C>T (p.Ala377=)
|
rs1382505031
|
0.00001
|
|
NM_000455.5(STK11):c.1135C>A (p.His379Asn)
|
rs762124698
|
0.00001
|
|
NM_000455.5(STK11):c.1137C>T (p.His379=)
|
rs786201505
|
0.00001
|
|
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser)
|
rs1247102370
|
0.00001
|
|
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala)
|
rs765419233
|
0.00001
|
|
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg)
|
rs985937027
|
0.00001
|
|
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys)
|
rs535449626
|
0.00001
|
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
|
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp)
|
rs752015385
|
0.00001
|
|
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln)
|
rs371102112
|
0.00001
|
|
NM_000455.5(STK11):c.1153G>A (p.Gly385Ser)
|
rs763586612
|
0.00001
|
|
NM_000455.5(STK11):c.115C>T (p.Arg39Cys)
|
rs876658779
|
0.00001
|
|
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg)
|
rs756877141
|
0.00001
|
|
NM_000455.5(STK11):c.1164G>A (p.Lys388=)
|
rs786202390
|
0.00001
|
|
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
|
rs547919101
|
0.00001
|
|
NM_000455.5(STK11):c.116G>T (p.Arg39Leu)
|
rs786203250
|
0.00001
|
|
NM_000455.5(STK11):c.1173T>C (p.Cys391=)
|
rs1229258407
|
0.00001
|
|
NM_000455.5(STK11):c.1174A>G (p.Met392Val)
|
rs565993396
|
0.00001
|
|
NM_000455.5(STK11):c.1175T>C (p.Met392Thr)
|
rs876661013
|
0.00001
|
|
NM_000455.5(STK11):c.1182C>T (p.Gly394=)
|
rs376679847
|
0.00001
|
|
NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)
|
rs587782138
|
0.00001
|
|
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser)
|
rs587780008
|
0.00001
|
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
|
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys)
|
rs1060499968
|
0.00001
|
|
NM_000455.5(STK11):c.1197G>T (p.Gln399His)
|
rs1436178098
|
0.00001
|
|
NM_000455.5(STK11):c.1206C>A (p.Thr402=)
|
rs758129211
|
0.00001
|
|
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg)
|
rs587781633
|
0.00001
|
|
NM_000455.5(STK11):c.1213A>T (p.Arg405Trp)
|
rs376718324
|
0.00001
|
|
NM_000455.5(STK11):c.1216G>T (p.Ala406Ser)
|
rs1330230723
|
0.00001
|
|
NM_000455.5(STK11):c.1217C>T (p.Ala406Val)
|
rs748202003
|
0.00001
|
|
NM_000455.5(STK11):c.1218G>A (p.Ala406=)
|
rs769772524
|
0.00001
|
|
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser)
|
rs749463771
|
0.00001
|
|
NM_000455.5(STK11):c.1230C>G (p.Ala410=)
|
rs864622171
|
0.00001
|
|
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala)
|
rs772527201
|
0.00001
|
|
NM_000455.5(STK11):c.1235A>G (p.Asn412Ser)
|
rs786201309
|
0.00001
|
|
NM_000455.5(STK11):c.1245C>T (p.Arg415=)
|
rs878853985
|
0.00001
|
|
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg)
|
rs1446554442
|
0.00001
|
|
NM_000455.5(STK11):c.1248G>C (p.Lys416Asn)
|
rs1459406168
|
0.00001
|
|
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser)
|
rs587782876
|
0.00001
|
|
NM_000455.5(STK11):c.1250C>T (p.Ala417Val)
|
rs1166243253
|
0.00001
|
|
NM_000455.5(STK11):c.1251C>T (p.Ala417=)
|
rs1060503786
|
0.00001
|
|
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser)
|
rs730881991
|
0.00001
|
|
NM_000455.5(STK11):c.1256C>T (p.Ser419Phe)
|
rs764639416
|
0.00001
|
|
NM_000455.5(STK11):c.1259C>T (p.Ala420Val)
|
rs369033659
|
0.00001
|
|
NM_000455.5(STK11):c.1274G>A (p.Arg425His)
|
rs730881992
|
0.00001
|
|
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp)
|
rs587782687
|
0.00001
|
|
NM_000455.5(STK11):c.1277G>A (p.Arg426Gln)
|
rs752699287
|
0.00001
|
|
NM_000455.5(STK11):c.1278G>A (p.Arg426=)
|
rs201256614
|
0.00001
|
|
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu)
|
rs587781537
|
0.00001
|
|
NM_000455.5(STK11):c.135C>T (p.Leu45=)
|
rs1362065365
|
0.00001
|
|
NM_000455.5(STK11):c.147C>T (p.Tyr49=)
|
rs751949296
|
0.00001
|
|
NM_000455.5(STK11):c.151A>C (p.Met51Leu)
|
rs730881986
|
0.00001
|
|
NM_000455.5(STK11):c.15C>T (p.Asp5=)
|
rs786201498
|
0.00001
|
|
NM_000455.5(STK11):c.160C>T (p.Leu54=)
|
rs755390787
|
0.00001
|
|
NM_000455.5(STK11):c.180C>T (p.Tyr60=)
|
rs778376925
|
0.00001
|
|
NM_000455.5(STK11):c.186G>A (p.Lys62=)
|
rs1215771465
|
0.00001
|
|
NM_000455.5(STK11):c.214C>T (p.Leu72=)
|
rs776369486
|
0.00001
|
|
NM_000455.5(STK11):c.216G>A (p.Leu72=)
|
rs1057524353
|
0.00001
|
|
NM_000455.5(STK11):c.219C>T (p.Cys73=)
|
rs761825242
|
0.00001
|
|
NM_000455.5(STK11):c.225G>A (p.Arg75=)
|
rs786203886
|
0.00001
|
|
NM_000455.5(STK11):c.238C>T (p.Leu80Phe)
|
rs1131690927
|
0.00001
|
|
NM_000455.5(STK11):c.243G>A (p.Lys81=)
|
rs961970080
|
0.00001
|
|
NM_000455.5(STK11):c.249G>A (p.Lys83=)
|
rs1400078073
|
0.00001
|
|
NM_000455.5(STK11):c.252G>A (p.Lys84=)
|
rs1320808027
|
0.00001
|
|
NM_000455.5(STK11):c.277G>A (p.Ala93Thr)
|
rs1288388685
|
0.00001
|
|
NM_000455.5(STK11):c.278C>T (p.Ala93Val)
|
rs2080673476
|
0.00001
|
|
NM_000455.5(STK11):c.279C>G (p.Ala93=)
|
rs786201852
|
0.00001
|
|
NM_000455.5(STK11):c.27G>C (p.Leu9=)
|
rs876659432
|
0.00001
|
|
NM_000455.5(STK11):c.290+15C>T
|
rs1057520378
|
0.00001
|
|
NM_000455.5(STK11):c.290+19G>A
|
rs1381768849
|
0.00001
|
|
NM_000455.5(STK11):c.290+1G>A
|
rs1131690950
|
0.00001
|
|
NM_000455.5(STK11):c.290+7A>G
|
rs587782371
|
0.00001
|
|
NM_000455.5(STK11):c.291-13C>T
|
rs1332978515
|
0.00001
|
|
NM_000455.5(STK11):c.291-14C>T
|
rs1057521012
|
0.00001
|
|
NM_000455.5(STK11):c.291-18C>T
|
rs1176351456
|
0.00001
|
|
NM_000455.5(STK11):c.291-20C>G
|
rs973142127
|
0.00001
|
|
NM_000455.5(STK11):c.297T>G (p.Ile99Met)
|
rs559620061
|
0.00001
|
|
NM_000455.5(STK11):c.299A>G (p.Gln100Arg)
|
rs1060499957
|
0.00001
|
|
NM_000455.5(STK11):c.300A>G (p.Gln100=)
|
rs765890997
|
0.00001
|
|
NM_000455.5(STK11):c.301C>G (p.Leu101Val)
|
rs587780716
|
0.00001
|
|
NM_000455.5(STK11):c.310A>T (p.Arg104Trp)
|
rs587782783
|
0.00001
|
|
NM_000455.5(STK11):c.312G>A (p.Arg104=)
|
rs780749732
|
0.00001
|
|
NM_000455.5(STK11):c.317G>A (p.Arg106Gln)
|
rs375622587
|
0.00001
|
|
NM_000455.5(STK11):c.318G>A (p.Arg106=)
|
rs777784520
|
0.00001
|
|
NM_000455.5(STK11):c.321C>T (p.His107=)
|
rs878853987
|
0.00001
|
|
NM_000455.5(STK11):c.327T>C (p.Asn109=)
|
rs749251218
|
0.00001
|
|
NM_000455.5(STK11):c.334C>G (p.Gln112Glu)
|
rs771049807
|
0.00001
|
|
NM_000455.5(STK11):c.342G>A (p.Val114=)
|
rs1441012455
|
0.00001
|
|
NM_000455.5(STK11):c.348G>T (p.Val116=)
|
rs774482643
|
0.00001
|
|
NM_000455.5(STK11):c.358G>A (p.Glu120Lys)
|
rs775595174
|
0.00001
|
|
NM_000455.5(STK11):c.374+12G>A
|
rs568625247
|
0.00001
|
|
NM_000455.5(STK11):c.375-16G>A
|
rs2080764978
|
0.00001
|
|
NM_000455.5(STK11):c.375-18G>A
|
rs1480487935
|
0.00001
|
|
NM_000455.5(STK11):c.375-20G>A
|
rs922896647
|
0.00001
|
|
NM_000455.5(STK11):c.375-33C>T
|
rs1246317136
|
0.00001
|
|
NM_000455.5(STK11):c.375-4C>G
|
rs752312972
|
0.00001
|
|
NM_000455.5(STK11):c.396C>T (p.Cys132=)
|
rs730881969
|
0.00001
|
|
NM_000455.5(STK11):c.39G>A (p.Thr13=)
|
rs765330434
|
0.00001
|
|
NM_000455.5(STK11):c.402T>G (p.Cys134Trp)
|
rs778868074
|
0.00001
|
|
NM_000455.5(STK11):c.417G>A (p.Met139Ile)
|
rs1284294073
|
0.00001
|
|
NM_000455.5(STK11):c.427G>A (p.Val143Met)
|
rs779987540
|
0.00001
|
|
NM_000455.5(STK11):c.431C>T (p.Pro144Leu)
|
rs1006375117
|
0.00001
|
|
NM_000455.5(STK11):c.434A>G (p.Glu145Gly)
|
rs369764220
|
0.00001
|
|
NM_000455.5(STK11):c.441T>C (p.Arg147=)
|
rs786201456
|
0.00001
|
|
NM_000455.5(STK11):c.444C>T (p.Phe148=)
|
rs1283208395
|
0.00001
|
|
NM_000455.5(STK11):c.447A>G (p.Pro149=)
|
rs587780718
|
0.00001
|
|
NM_000455.5(STK11):c.448G>A (p.Val150Met)
|
rs1225872771
|
0.00001
|
|
NM_000455.5(STK11):c.449T>C (p.Val150Ala)
|
rs587781802
|
0.00001
|
|
NM_000455.5(STK11):c.45C>T (p.Gly15=)
|
rs786201234
|
0.00001
|
|
NM_000455.5(STK11):c.462C>T (p.His154=)
|
rs786201418
|
0.00001
|
|
NM_000455.5(STK11):c.464+11G>A
|
rs571895916
|
0.00001
|
|
NM_000455.5(STK11):c.464+17G>C
|
rs587782429
|
0.00001
|
|
NM_000455.5(STK11):c.464+4C>T
|
rs373167735
|
0.00001
|
|
NM_000455.5(STK11):c.464+8C>T
|
rs863224669
|
0.00001
|
|
NM_000455.5(STK11):c.464+8del
|
rs878853989
|
0.00001
|
|
NM_000455.5(STK11):c.465-10C>G
|
rs1060503780
|
0.00001
|
|
NM_000455.5(STK11):c.465-15G>T
|
rs765010137
|
0.00001
|
|
NM_000455.5(STK11):c.465-17G>A
|
rs761361803
|
0.00001
|
|
NM_000455.5(STK11):c.465-19G>A
|
rs776367814
|
0.00001
|
|
NM_000455.5(STK11):c.465-3C>T
|
rs587781619
|
0.00001
|
|
NM_000455.5(STK11):c.465-7C>T
|
rs864622317
|
0.00001
|
|
NM_000455.5(STK11):c.465-8G>A
|
rs878853990
|
0.00001
|
|
NM_000455.5(STK11):c.465-9T>C
|
rs1296890675
|
0.00001
|
|
NM_000455.5(STK11):c.46G>A (p.Glu16Lys)
|
rs1179004732
|
0.00001
|
|
NM_000455.5(STK11):c.471C>T (p.Phe157=)
|
rs766257141
|
0.00001
|
|
NM_000455.5(STK11):c.480G>T (p.Leu160=)
|
rs1176365465
|
0.00001
|
|
NM_000455.5(STK11):c.48G>A (p.Glu16=)
|
rs969419908
|
0.00001
|
|
NM_000455.5(STK11):c.49C>G (p.Leu17Val)
|
rs780581573
|
0.00001
|
|
NM_000455.5(STK11):c.555C>G (p.Thr185=)
|
rs1060503781
|
0.00001
|
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
|
NM_000455.5(STK11):c.576C>T (p.Ile192=)
|
rs878853991
|
0.00001
|
|
NM_000455.5(STK11):c.577T>G (p.Ser193Ala)
|
rs1064794883
|
0.00001
|
|
NM_000455.5(STK11):c.579C>T (p.Ser193=)
|
rs730881961
|
0.00001
|
|
NM_000455.5(STK11):c.594C>T (p.Ala198=)
|
rs772940660
|
0.00001
|
|
NM_000455.5(STK11):c.597+11G>T
|
rs770719299
|
0.00001
|
|
NM_000455.5(STK11):c.597+14A>G
|
rs372358818
|
0.00001
|
|
NM_000455.5(STK11):c.597+18G>C
|
rs1555738291
|
0.00001
|
|
NM_000455.5(STK11):c.598-17G>A
|
rs587781631
|
0.00001
|
|
NM_000455.5(STK11):c.598-20G>A
|
rs747563720
|
0.00001
|
|
NM_000455.5(STK11):c.5A>C (p.Glu2Ala)
|
rs1159551738
|
0.00001
|
|
NM_000455.5(STK11):c.605A>G (p.His202Arg)
|
rs1206092648
|
0.00001
|
|
NM_000455.5(STK11):c.609G>A (p.Pro203=)
|
rs786201228
|
0.00001
|
|
NM_000455.5(STK11):c.614C>T (p.Ala205Val)
|
rs587782468
|
0.00001
|
|
NM_000455.5(STK11):c.61G>A (p.Gly21Ser)
|
rs1064793751
|
0.00001
|
|
NM_000455.5(STK11):c.621C>T (p.Asp207=)
|
rs569380138
|
0.00001
|
|
NM_000455.5(STK11):c.632G>A (p.Arg211Gln)
|
rs730881982
|
0.00001
|
|
NM_000455.5(STK11):c.648C>T (p.Ser216=)
|
rs376083300
|
0.00001
|
|
NM_000455.5(STK11):c.657C>T (p.Phe219=)
|
rs1326889544
|
0.00001
|
|
NM_000455.5(STK11):c.662C>T (p.Pro221Leu)
|
rs1167609100
|
0.00001
|
|
NM_000455.5(STK11):c.663G>T (p.Pro221=)
|
rs587780720
|
0.00001
|
|
NM_000455.5(STK11):c.696C>T (p.Ser232=)
|
rs566823619
|
0.00001
|
|
NM_000455.5(STK11):c.6G>A (p.Glu2=)
|
rs1271482574
|
0.00001
|
|
NM_000455.5(STK11):c.71C>T (p.Thr24Met)
|
rs770503805
|
0.00001
|
|
NM_000455.5(STK11):c.720G>A (p.Ser240=)
|
rs759743897
|
0.00001
|
|
NM_000455.5(STK11):c.734+19C>T
|
rs372338167
|
0.00001
|
|
NM_000455.5(STK11):c.741C>T (p.Asn247=)
|
rs754761142
|
0.00001
|
|
NM_000455.5(STK11):c.750G>A (p.Thr250=)
|
rs748112446
|
0.00001
|
|
NM_000455.5(STK11):c.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
|
NM_000455.5(STK11):c.801C>T (p.Ile267=)
|
rs539772540
|
0.00001
|
|
NM_000455.5(STK11):c.810G>C (p.Gly270=)
|
rs1297520176
|
0.00001
|
|
NM_000455.5(STK11):c.817G>A (p.Ala273Thr)
|
rs587782199
|
0.00001
|
|
NM_000455.5(STK11):c.818C>T (p.Ala273Val)
|
rs761164605
|
0.00001
|
|
NM_000455.5(STK11):c.837C>T (p.Gly279=)
|
rs373021819
|
0.00001
|
|
NM_000455.5(STK11):c.839C>T (p.Pro280Leu)
|
rs1356762205
|
0.00001
|
|
NM_000455.5(STK11):c.841C>A (p.Pro281Thr)
|
rs377208033
|
0.00001
|
|
NM_000455.5(STK11):c.843G>A (p.Pro281=)
|
rs756095270
|
0.00001
|
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
|
NM_000455.5(STK11):c.858G>A (p.Leu286=)
|
rs770916046
|
0.00001
|
|
NM_000455.5(STK11):c.862+11C>T
|
rs746063656
|
0.00001
|
|
NM_000455.5(STK11):c.862+14C>T
|
rs562847220
|
0.00001
|
|
NM_000455.5(STK11):c.862+20G>T
|
rs1057522675
|
0.00001
|
|
NM_000455.5(STK11):c.863-20C>T
|
rs1250319696
|
0.00001
|
|
NM_000455.5(STK11):c.863-4T>C
|
rs778853572
|
0.00001
|
|
NM_000455.5(STK11):c.863-6C>T
|
rs757276643
|
0.00001
|
|
NM_000455.5(STK11):c.863-8C>T
|
rs1224729035
|
0.00001
|
|
NM_000455.5(STK11):c.877G>A (p.Glu293Lys)
|
rs398123405
|
0.00001
|
|
NM_000455.5(STK11):c.879A>G (p.Glu293=)
|
rs2080787486
|
0.00001
|
|
NM_000455.5(STK11):c.882G>A (p.Pro294=)
|
rs587781178
|
0.00001
|
|
NM_000455.5(STK11):c.897C>T (p.Ser299=)
|
rs769013935
|
0.00001
|
|
NM_000455.5(STK11):c.902G>A (p.Arg301Gln)
|
rs370222210
|
0.00001
|
|
NM_000455.5(STK11):c.921-19T>C
|
rs763847001
|
0.00001
|
|
NM_000455.5(STK11):c.921-8G>A
|
rs863224362
|
0.00001
|
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
|
NM_000455.5(STK11):c.929G>A (p.Arg310Gln)
|
rs1555739158
|
0.00001
|
|
NM_000455.5(STK11):c.936A>G (p.Lys312=)
|
rs786201739
|
0.00001
|
|
NM_000455.5(STK11):c.937C>T (p.His313Tyr)
|
rs730881987
|
0.00001
|
|
NM_000455.5(STK11):c.941C>T (p.Pro314Leu)
|
rs1064795752
|
0.00001
|
|
NM_000455.5(STK11):c.947C>G (p.Ala316Gly)
|
rs751709130
|
0.00001
|
|
NM_000455.5(STK11):c.94A>G (p.Thr32Ala)
|
rs755210880
|
0.00001
|
|
NM_000455.5(STK11):c.950A>C (p.Glu317Ala)
|
rs730881988
|
0.00001
|
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
|
NM_000455.5(STK11):c.960G>A (p.Val320=)
|
rs752961535
|
0.00001
|
|
NM_000455.5(STK11):c.963C>T (p.Pro321=)
|
rs878853993
|
0.00001
|
|
NM_000455.5(STK11):c.969A>G (p.Pro323=)
|
rs1399205535
|
0.00001
|
|
NM_000455.5(STK11):c.971C>T (p.Pro324Leu)
|
rs367807476
|
0.00001
|
|
NM_000455.5(STK11):c.972G>A (p.Pro324=)
|
rs553474397
|
0.00001
|
|
NM_000455.5(STK11):c.976C>A (p.Pro326Thr)
|
rs771632414
|
0.00001
|
|
NM_000455.5(STK11):c.981C>T (p.Asp327=)
|
rs2080796456
|
0.00001
|
|
NM_000455.5(STK11):c.991C>T (p.Arg331Trp)
|
rs876658594
|
0.00001
|
|
NM_001393918.1(CBARP):c.*837C>T
|
rs995422130
|
0.00001
|
|
GRCh37/hg19 19p13.3(chr19:260911-1319319)
|
|
|
|
NC_000019.10:g.(1207204_1218416)_(1219414_1220372)del
|
|
|
|
NC_000019.10:g.(?_1206904)_(1219423_?)del
|
|
|
|
NC_000019.10:g.(?_1206904)_(1226657_?)del
|
|
|
|
NC_000019.10:g.(?_1206908)_(1221346_?)del
|
|
|
|
NC_000019.10:g.(?_1206908)_(1226652_?)del
|
|
|
|
NC_000019.10:g.(?_1206914)_(1207213_?)dup
|
|
|
|
NC_000019.10:g.(?_1206914)_(1226647_?)del
|
|
|
|
NC_000019.10:g.(?_1218407)_(1222016_?)del
|
|
|
|
NC_000019.10:g.(?_1218407)_(1226647_?)del
|
|
|
|
NC_000019.10:g.(?_1218407)_(1226657_?)del
|
|
|
|
NC_000019.10:g.(?_1218411)_(1220723_?)del
|
|
|
|
NC_000019.10:g.(?_1218417)_(1219413_?)del
|
|
|
|
NC_000019.10:g.(?_1218417)_(1223172_?)del
|
|
|
|
NC_000019.10:g.(?_1219314)_(1222016_?)del
|
|
|
|
NC_000019.10:g.(?_1221939)_(1222016_?)del
|
|
|
|
NC_000019.10:g.(?_1221949)_(1222006_?)del
|
|
|
|
NC_000019.10:g.(?_1222975)_(1226647_?)del
|
|
|
|
NC_000019.10:g.1220380_1220381insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCTGGCCGGGCAGAGTGGCTCCTCACTTCCCAGACGGGGTGGTTGCCAGACGGAGGGGCTCCTCACTTCTCAGACGGGGCCCGCAGGTACTTCT
|
|
|
|
NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del
|
|
|
|
NC_000019.9:g.(?_1205797)_(1223172_1226452)del
|
|
|
|
NC_000019.9:g.(?_1206903)_(1207212_?)del
|
|
|
|
NC_000019.9:g.(?_1206903)_(1207212_?)dup
|
|
|
|
NC_000019.9:g.(?_1206903)_(1222015_?)dup
|
|
|
|
NC_000019.9:g.(?_1206903)_(1223181_?)dup
|
|
|
|
NC_000019.9:g.(?_1206903)_(1226656_?)dup
|
|
|
|
NC_000019.9:g.(?_1206907)_(1207208_?)dup
|
|
|
|
NC_000019.9:g.(?_1206907)_(1222011_?)dup
|
|
|
|
NC_000019.9:g.(?_1206907)_(1226652_?)del
|
|
|
|
NC_000019.9:g.(?_1206913)_(1207212_?)del
|
|
|
|
NC_000019.9:g.(?_1206913)_(1219422_?)del
|
|
|
|
NC_000019.9:g.(?_1206913)_(1222015_?)dup
|
|
|
|
NC_000019.9:g.(?_1206913)_(1223181_?)del
|
|
|
|
NC_000019.9:g.(?_1218406)_(1218509_?)del
|
|
|
|
NC_000019.9:g.(?_1218406)_(1219422_?)del
|
|
|
|
NC_000019.9:g.(?_1219313)_(1219422_?)del
|
|
|
|
NC_000019.9:g.(?_1219313)_(1220726_?)del
|
|
|
|
NC_000019.9:g.(?_1219317)_(1221345_?)del
|
|
|
|
NC_000019.9:g.(?_1220366)_(1220510_?)del
|
|
|
|
NC_000019.9:g.(?_1221107)_(1227749_?)del
|
|
|
|
NC_000019.9:g.(?_1221202)_(1221349_?)del
|
|
|
|
NC_000019.9:g.(?_852319)_(1226656_?)del
|
|
|
|
NC_000019.9:g.(?_852319)_(1226656_?)dup
|
|
|
|
NC_000019.9:g.(?_852323)_(1207208_?)dup
|
|
|
|
NC_000019.9:g.(?_852323)_(1222011_?)del
|
|
|
|
NC_000019.9:g.(?_852323)_(1226652_?)del
|
|
|
|
NC_000019.9:g.(?_852326)_(1226646_?)del
|
|
|
|
NC_000019.9:g.1199801_1212900dup
|
|
|
|
NM_000455.4(STK11):c.-1115-?_290+?del
|
|
|
|
NM_000455.4(STK11):c.-1115_*16+?del
|
|
|
|
NM_000455.4(STK11):c.821delinsAC (p.Ile274fs)
|
rs1555738683
|
|
|
NM_000455.4(STK11):c.908T>G (p.Ile303Ser)
|
rs727504171
|
|
|
NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs)
|
rs1555738899
|
|
|
NM_000455.5(STK11):c.*121A>C
|
rs886054219
|
|
|
NM_000455.5(STK11):c.*142G>T
|
rs2080836128
|
|
|
NM_000455.5(STK11):c.*16+8_*16+17dup
|
rs1453954065
|
|
|
NM_000455.5(STK11):c.*411T>C
|
rs1463819473
|
|
|
NM_000455.5(STK11):c.*483_*484del
|
rs545375742
|
|
|
NM_000455.5(STK11):c.*565G>A
|
rs1027644340
|
|
|
NM_000455.5(STK11):c.*634G>A
|
rs903030190
|
|
|
NM_000455.5(STK11):c.*6G>A
|
rs1057523753
|
|
|
NM_000455.5(STK11):c.*701C>A
|
rs1015269208
|
|
|
NM_000455.5(STK11):c.-1055C>T
|
rs886054202
|
|
|
NM_000455.5(STK11):c.-106C>T
|
rs886054213
|
|
|
NM_000455.5(STK11):c.-107dup
|
rs927999961
|
|
|
NM_000455.5(STK11):c.-1097G>T
|
rs944606544
|
|
|
NM_000455.5(STK11):c.-1098G>A
|
rs886054201
|
|
|
NM_000455.5(STK11):c.-1114_290+1del
|
|
|
|
NM_000455.5(STK11):c.-150G>A
|
rs1453851790
|
|
|
NM_000455.5(STK11):c.-193C>G
|
rs561818770
|
|
|
NM_000455.5(STK11):c.-216A>C
|
rs886054211
|
|
|
NM_000455.5(STK11):c.-280C>A
|
rs893914050
|
|
|
NM_000455.5(STK11):c.-302G>A
|
rs935371253
|
|
|
NM_000455.5(STK11):c.-333G>T
|
rs1208293548
|
|
|
NM_000455.5(STK11):c.-387C>T
|
rs886054209
|
|
|
NM_000455.5(STK11):c.-388C>T
|
rs2080666270
|
|
|
NM_000455.5(STK11):c.-430C>T
|
rs115594813
|
|
|
NM_000455.5(STK11):c.-474G>A
|
rs866050909
|
|
|
NM_000455.5(STK11):c.-551C>T
|
rs1316450313
|
|
|
NM_000455.5(STK11):c.-587G>C
|
rs886054206
|
|
|
NM_000455.5(STK11):c.-635del
|
rs886054205
|
|
|
NM_000455.5(STK11):c.-723G>T
|
rs886054204
|
|
|
NM_000455.5(STK11):c.-783G>A
|
rs2080662705
|
|
|
NM_000455.5(STK11):c.-7del
|
rs1064795642
|
|
|
NM_000455.5(STK11):c.-925C>T
|
rs886054203
|
|
|
NM_000455.5(STK11):c.-95G>T
|
rs1323638467
|
|
|
NM_000455.5(STK11):c.-99C>T
|
rs1407068597
|
|
|
NM_000455.5(STK11):c.1001G>A (p.Ser334Asn)
|
rs1342275430
|
|
|
NM_000455.5(STK11):c.1001G>C (p.Ser334Thr)
|
|
|
|
NM_000455.5(STK11):c.1002C>T (p.Ser334=)
|
rs1057521267
|
|
|
NM_000455.5(STK11):c.1008T>C (p.Thr336=)
|
rs878853981
|
|
|
NM_000455.5(STK11):c.1008T>G (p.Thr336=)
|
rs878853981
|
|
|
NM_000455.5(STK11):c.1009G>A (p.Val337Met)
|
rs2080796782
|
|
|
NM_000455.5(STK11):c.1010T>C (p.Val337Ala)
|
rs1272426209
|
|
|
NM_000455.5(STK11):c.1010_1011del (p.Val337fs)
|
rs2145430970
|
|
|
NM_000455.5(STK11):c.1011G>C (p.Val337=)
|
|
|
|
NM_000455.5(STK11):c.1015C>T (p.Pro339Ser)
|
rs769644352
|
|
|
NM_000455.5(STK11):c.1016C>G (p.Pro339Arg)
|
rs567896256
|
|
|
NM_000455.5(STK11):c.1017G>C (p.Pro339=)
|
rs773049570
|
|
|
NM_000455.5(STK11):c.1018T>C (p.Tyr340His)
|
rs2080796950
|
|
|
NM_000455.5(STK11):c.1021T>C (p.Leu341=)
|
|
|
|
NM_000455.5(STK11):c.1024G>C (p.Glu342Gln)
|
rs876658160
|
|
|
NM_000455.5(STK11):c.1024_1027del (p.Glu342fs)
|
rs2145431039
|
|
|
NM_000455.5(STK11):c.1026G>A (p.Glu342=)
|
rs1195673013
|
|
|
NM_000455.5(STK11):c.1026G>T (p.Glu342Asp)
|
rs1195673013
|
|
|
NM_000455.5(STK11):c.102C>G (p.Val34=)
|
rs1060503784
|
|
|
NM_000455.5(STK11):c.1030C>T (p.Leu344=)
|
rs2145431096
|
|
|
NM_000455.5(STK11):c.1032G>A (p.Leu344=)
|
rs371928158
|
|
|
NM_000455.5(STK11):c.1033C>T (p.His345Tyr)
|
|
|
|
NM_000455.5(STK11):c.1033_1108+9dup
|
|
|
|
NM_000455.5(STK11):c.1034A>G (p.His345Arg)
|
|
|
|
NM_000455.5(STK11):c.1036_1037del (p.Gly346fs)
|
|
|
|
NM_000455.5(STK11):c.1037G>A (p.Gly346Asp)
|
|
|
|
NM_000455.5(STK11):c.1037_1042del (p.Gly346_Ala347del)
|
rs1060499969
|
|
|
NM_000455.5(STK11):c.103A>G (p.Ile35Val)
|
rs587781437
|
|
|
NM_000455.5(STK11):c.1040C>G (p.Ala347Gly)
|
rs587782058
|
|
|
NM_000455.5(STK11):c.1040_1045del (p.Ala347_Asp348del)
|
rs2080797182
|
|
|
NM_000455.5(STK11):c.1041G>A (p.Ala347=)
|
rs537906142
|
|
|
NM_000455.5(STK11):c.1041G>T (p.Ala347=)
|
|
|
|
NM_000455.5(STK11):c.1042G>A (p.Asp348Asn)
|
rs2080797253
|
|
|
NM_000455.5(STK11):c.1042del (p.Asp348fs)
|
|
|
|
NM_000455.5(STK11):c.1044C>G (p.Asp348Glu)
|
rs778274196
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[1] (p.349ED[1])
|
rs762810203
|
|
|
NM_000455.5(STK11):c.1045GAGGAC[3] (p.349ED[3])
|
rs762810203
|
|
|
NM_000455.5(STK11):c.1046A>C (p.Glu349Ala)
|
rs757815836
|
|
|
NM_000455.5(STK11):c.1047G>A (p.Glu349=)
|
rs2080797337
|
|
|
NM_000455.5(STK11):c.1048G>A (p.Asp350Asn)
|
rs1060499955
|
|
|
NM_000455.5(STK11):c.1049A>G (p.Asp350Gly)
|
rs876658522
|
|
|
NM_000455.5(STK11):c.1051G>A (p.Glu351Lys)
|
rs746460823
|
|
|
NM_000455.5(STK11):c.1053G>A (p.Glu351=)
|
rs1555739303
|
|
|
NM_000455.5(STK11):c.1055A>T (p.Asp352Val)
|
rs2145431252
|
|
|
NM_000455.5(STK11):c.1056C>T (p.Asp352=)
|
rs768217700
|
|
|
NM_000455.5(STK11):c.1057_1074dup (p.Leu353_Asp358dup)
|
rs2145431264
|
|
|
NM_000455.5(STK11):c.105C>A (p.Ile35=)
|
rs1060503783
|
|
|
NM_000455.5(STK11):c.105C>T (p.Ile35=)
|
rs1060503783
|
|
|
NM_000455.5(STK11):c.105_106del (p.Tyr36fs)
|
rs1568689994
|
|
|
NM_000455.5(STK11):c.1061T>C (p.Phe354Ser)
|
rs2080797498
|
|
|
NM_000455.5(STK11):c.1062C>T (p.Phe354=)
|
rs59912467
|
|
|
NM_000455.5(STK11):c.1062_1073del (p.Glu357_Ile360del)
|
rs1599929523
|
|
|
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn)
|
rs769403473
|
|
|
NM_000455.5(STK11):c.1065C>G (p.Asp355Glu)
|
rs577581156
|
|
|
NM_000455.5(STK11):c.1065C>T (p.Asp355=)
|
rs577581156
|
|
|
NM_000455.5(STK11):c.1066A>C (p.Ile356Leu)
|
rs772963844
|
|
|
NM_000455.5(STK11):c.1066A>G (p.Ile356Val)
|
rs772963844
|
|
|
NM_000455.5(STK11):c.1068C>A (p.Ile356=)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.1068C>G (p.Ile356Met)
|
rs187744790
|
|
|
NM_000455.5(STK11):c.1069G>C (p.Glu357Gln)
|
rs759473833
|
|
|
NM_000455.5(STK11):c.1070A>C (p.Glu357Ala)
|
|
|
|
NM_000455.5(STK11):c.1071G>A (p.Glu357=)
|
rs556651007
|
|
|
NM_000455.5(STK11):c.1073A>G (p.Asp358Gly)
|
rs752781994
|
|
|
NM_000455.5(STK11):c.1075G>A (p.Asp359Asn)
|
rs1060499967
|
|
|
NM_000455.5(STK11):c.1077C>G (p.Asp359Glu)
|
rs1321578734
|
|
|
NM_000455.5(STK11):c.1077C>T (p.Asp359=)
|
rs1321578734
|
|
|
NM_000455.5(STK11):c.1078A>G (p.Ile360Val)
|
rs1555739334
|
|
|
NM_000455.5(STK11):c.1079T>C (p.Ile360Thr)
|
rs1568712477
|
|
|
NM_000455.5(STK11):c.107A>G (p.Tyr36Cys)
|
rs1555734937
|
|
|
NM_000455.5(STK11):c.1080C>T (p.Ile360=)
|
rs2145431392
|
|
|
NM_000455.5(STK11):c.1081A>G (p.Ile361Val)
|
rs786202388
|
|
|
NM_000455.5(STK11):c.1082T>C (p.Ile361Thr)
|
rs2080797878
|
|
|
NM_000455.5(STK11):c.1082T>G (p.Ile361Ser)
|
|
|
|
NM_000455.5(STK11):c.1083C>G (p.Ile361Met)
|
rs2080797894
|
|
|
NM_000455.5(STK11):c.1084T>A (p.Tyr362Asn)
|
|
|
|
NM_000455.5(STK11):c.1086C>T (p.Tyr362=)
|
rs2145431412
|
|
|
NM_000455.5(STK11):c.1087A>C (p.Thr363Pro)
|
rs764458789
|
|
|
NM_000455.5(STK11):c.1087A>G (p.Thr363Ala)
|
rs764458789
|
|
|
NM_000455.5(STK11):c.1088C>G (p.Thr363Ser)
|
rs587778695
|
|
|
NM_000455.5(STK11):c.1089T>C (p.Thr363=)
|
rs876658309
|
|
|
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter)
|
rs137853079
|
|
|
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter)
|
|
|
|
NM_000455.5(STK11):c.1091A>G (p.Gln364Arg)
|
rs1599929567
|
|
|
NM_000455.5(STK11):c.1092G>A (p.Gln364=)
|
rs1555739339
|
|
|
NM_000455.5(STK11):c.1093G>A (p.Asp365Asn)
|
rs1599929572
|
|
|
NM_000455.5(STK11):c.1096T>G (p.Phe366Val)
|
rs767100677
|
|
|
NM_000455.5(STK11):c.1097_1108+1232del
|
|
|
|
NM_000455.5(STK11):c.1098C>T (p.Phe366=)
|
rs2080798043
|
|
|
NM_000455.5(STK11):c.1099A>G (p.Thr367Ala)
|
rs1599929579
|
|
|
NM_000455.5(STK11):c.1099_1108+73del
|
|
|
|
NM_000455.5(STK11):c.109C>T (p.Gln37Ter)
|
rs121913324
|
|
|
NM_000455.5(STK11):c.109dup (p.Gln37fs)
|
rs2145404947
|
|
|
NM_000455.5(STK11):c.10G>A (p.Val4Met)
|
rs767300470
|
|
|
NM_000455.5(STK11):c.10G>T (p.Val4Leu)
|
rs767300470
|
|
|
NM_000455.5(STK11):c.1100C>A (p.Thr367Lys)
|
rs587782835
|
|
|
NM_000455.5(STK11):c.1102G>C (p.Val368Leu)
|
rs1311925225
|
|
|
NM_000455.5(STK11):c.1102G>T (p.Val368Leu)
|
rs1311925225
|
|
|
NM_000455.5(STK11):c.1105C>T (p.Pro369Ser)
|
rs758887235
|
|
|
NM_000455.5(STK11):c.1106C>A (p.Pro369His)
|
|
|
|
NM_000455.5(STK11):c.1108+10G>C
|
|
|
|
NM_000455.5(STK11):c.1108+12G>C
|
rs1057521545
|
|
|
NM_000455.5(STK11):c.1108+16G>C
|
|
|
|
NM_000455.5(STK11):c.1108+16dup
|
|
|
|
NM_000455.5(STK11):c.1108+17C>T
|
|
|
|
NM_000455.5(STK11):c.1108+18C>G
|
rs1160511142
|
|
|
NM_000455.5(STK11):c.1108+19C>G
|
|
|
|
NM_000455.5(STK11):c.1108+6T>C
|
rs777428255
|
|
|
NM_000455.5(STK11):c.1108+6T>G
|
|
|
|
NM_000455.5(STK11):c.1108+7C>A
|
rs878853982
|
|
|
NM_000455.5(STK11):c.1108+7C>T
|
rs878853982
|
|
|
NM_000455.5(STK11):c.1108+9G>A
|
|
|
|
NM_000455.5(STK11):c.1108G>A (p.Gly370Arg)
|
rs747655835
|
|
|
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg)
|
rs747655835
|
|
|
NM_000455.5(STK11):c.1109-11C>G
|
|
|
|
NM_000455.5(STK11):c.1109-11C>T
|
|
|
|
NM_000455.5(STK11):c.1109-13G>C
|
|
|
|
NM_000455.5(STK11):c.1109-13G>T
|
rs568152768
|
|
|
NM_000455.5(STK11):c.1109-14_1109-11dup
|
rs2145435742
|
|
|
NM_000455.5(STK11):c.1109-15C>T
|
rs1057520799
|
|
|
NM_000455.5(STK11):c.1109-16G>A
|
rs2145435730
|
|
|
NM_000455.5(STK11):c.1109-16_1109-15delinsTG
|
|
|
|
NM_000455.5(STK11):c.1109-16dup
|
|
|
|
NM_000455.5(STK11):c.1109-17T>C
|
rs1555740052
|
|
|
NM_000455.5(STK11):c.1109-19C>A
|
|
|
|
NM_000455.5(STK11):c.1109-19C>G
|
|
|
|
NM_000455.5(STK11):c.1109-19C>T
|
|
|
|
NM_000455.5(STK11):c.1109-20A>G
|
|
|
|
NM_000455.5(STK11):c.1109-20A>T
|
|
|
|
NM_000455.5(STK11):c.1109-3del
|
rs2145435780
|
|
|
NM_000455.5(STK11):c.1109-4C>A
|
rs1407794756
|
|
|
NM_000455.5(STK11):c.1109-7C>G
|
rs922706582
|
|
|
NM_000455.5(STK11):c.1109-7C>T
|
rs922706582
|
|
|
NM_000455.5(STK11):c.1109-9C>G
|
rs745698182
|
|
|
NM_000455.5(STK11):c.1109-9C>T
|
rs745698182
|
|
|
NM_000455.5(STK11):c.1109G>A (p.Gly370Glu)
|
rs1568716651
|
|
|
NM_000455.5(STK11):c.1109G>C (p.Gly370Ala)
|
|
|
|
NM_000455.5(STK11):c.110A>G (p.Gln37Arg)
|
rs1568690022
|
|
|
NM_000455.5(STK11):c.1110A>G (p.Gly370=)
|
|
|
|
NM_000455.5(STK11):c.1112A>T (p.Gln371Leu)
|
rs1060499963
|
|
|
NM_000455.5(STK11):c.1113G>A (p.Gln371=)
|
rs587780714
|
|
|
NM_000455.5(STK11):c.1113G>C (p.Gln371His)
|
rs587780714
|
|
|
NM_000455.5(STK11):c.1116C>G (p.Val372=)
|
|
|
|
NM_000455.5(STK11):c.1119A>C (p.Pro373=)
|
|
|
|
NM_000455.5(STK11):c.111G>C (p.Gln37His)
|
|
|
|
NM_000455.5(STK11):c.1122A>G (p.Glu374=)
|
rs1599932051
|
|
|
NM_000455.5(STK11):c.1124A>C (p.Glu375Ala)
|
|
|
|
NM_000455.5(STK11):c.1124A>G (p.Glu375Gly)
|
rs1060499951
|
|
|
NM_000455.5(STK11):c.1124AGG[1] (p.Glu376del)
|
rs1064794167
|
|
|
NM_000455.5(STK11):c.1126G>A (p.Glu376Lys)
|
rs2080821683
|
|
|
NM_000455.5(STK11):c.1127A>T (p.Glu376Val)
|
rs373888280
|
|
|
NM_000455.5(STK11):c.1128G>T (p.Glu376Asp)
|
rs747018506
|
|
|
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro)
|
rs768870802
|
|
|
NM_000455.5(STK11):c.112C>A (p.Pro38Thr)
|
rs1060499954
|
|
|
NM_000455.5(STK11):c.112C>G (p.Pro38Ala)
|
rs1060499954
|
|
|
NM_000455.5(STK11):c.112C>T (p.Pro38Ser)
|
rs1060499954
|
|
|
NM_000455.5(STK11):c.1130C>G (p.Ala377Gly)
|
|
|
|
NM_000455.5(STK11):c.1132A>G (p.Ser378Gly)
|
|
|
|
NM_000455.5(STK11):c.1137C>A (p.His379Gln)
|
rs786201505
|
|
|
NM_000455.5(STK11):c.1138A>C (p.Asn380His)
|
rs1555740084
|
|
|
NM_000455.5(STK11):c.113C>G (p.Pro38Arg)
|
rs1568690036
|
|
|
NM_000455.5(STK11):c.113C>T (p.Pro38Leu)
|
rs1568690036
|
|
|
NM_000455.5(STK11):c.1140T>C (p.Asn380=)
|
rs1057521658
|
|
|
NM_000455.5(STK11):c.1140T>G (p.Asn380Lys)
|
rs1057521658
|
|
|
NM_000455.5(STK11):c.1141G>A (p.Gly381Arg)
|
rs1555740086
|
|
|
NM_000455.5(STK11):c.1142G>A (p.Gly381Glu)
|
rs765419233
|
|
|
NM_000455.5(STK11):c.1147C>G (p.Arg383Gly)
|
rs535449626
|
|
|
NM_000455.5(STK11):c.1148G>C (p.Arg383Pro)
|
|
|
|
NM_000455.5(STK11):c.1149C>T (p.Arg383=)
|
rs2145435963
|
|
|
NM_000455.5(STK11):c.1151G>C (p.Arg384Pro)
|
|
|
|
NM_000455.5(STK11):c.1151G>T (p.Arg384Leu)
|
rs371102112
|
|
|
NM_000455.5(STK11):c.1152G>A (p.Arg384=)
|
|
|
|
NM_000455.5(STK11):c.1152G>C (p.Arg384=)
|
rs786201491
|
|
|
NM_000455.5(STK11):c.1152G>T (p.Arg384=)
|
rs786201491
|
|
|
NM_000455.5(STK11):c.1155C>T (p.Gly385=)
|
rs2145435988
|
|
|
NM_000455.5(STK11):c.1156C>A (p.Leu386Ile)
|
rs2145435992
|
|
|
NM_000455.5(STK11):c.1156C>T (p.Leu386Phe)
|
rs2145435992
|
|
|
NM_000455.5(STK11):c.1157T>C (p.Leu386Pro)
|
rs876658871
|
|
|
NM_000455.5(STK11):c.1157T>G (p.Leu386Arg)
|
rs876658871
|
|
|
NM_000455.5(STK11):c.1159C>T (p.Pro387Ser)
|
rs2145435999
|
|
|
NM_000455.5(STK11):c.115CGC[1] (p.Arg40del)
|
rs774900889
|
|
|
NM_000455.5(STK11):c.1160C>T (p.Pro387Leu)
|
rs587782493
|
|
|
NM_000455.5(STK11):c.1161C>A (p.Pro387=)
|
rs1427783283
|
|
|
NM_000455.5(STK11):c.1161C>T (p.Pro387=)
|
rs1427783283
|
|
|
NM_000455.5(STK11):c.1162A>C (p.Lys388Gln)
|
rs878853983
|
|
|
NM_000455.5(STK11):c.1162A>T (p.Lys388Ter)
|
rs878853983
|
|
|
NM_000455.5(STK11):c.1165G>A (p.Ala389Thr)
|
|
|
|
NM_000455.5(STK11):c.1165G>T (p.Ala389Ser)
|
rs1555740118
|
|
|
NM_000455.5(STK11):c.1167C>A (p.Ala389=)
|
rs547919101
|
|
|
NM_000455.5(STK11):c.1167C>T (p.Ala389=)
|
rs547919101
|
|
|
NM_000455.5(STK11):c.1169T>C (p.Val390Ala)
|
rs2145436052
|
|
|
NM_000455.5(STK11):c.116G>A (p.Arg39His)
|
rs786203250
|
|
|
NM_000455.5(STK11):c.1170G>A (p.Val390=)
|
rs367911165
|
|
|
NM_000455.5(STK11):c.1171T>G (p.Cys391Gly)
|
rs1214125670
|
|
|
NM_000455.5(STK11):c.1172G>A (p.Cys391Tyr)
|
rs2080822382
|
|
|
NM_000455.5(STK11):c.1173T>G (p.Cys391Trp)
|
|
|
|
NM_000455.5(STK11):c.1175T>A (p.Met392Lys)
|
|
|
|
NM_000455.5(STK11):c.1175T>G (p.Met392Arg)
|
rs876661013
|
|
|
NM_000455.5(STK11):c.1177A>T (p.Asn393Tyr)
|
|
|
|
NM_000455.5(STK11):c.1178A>C (p.Asn393Thr)
|
rs1060499965
|
|
|
NM_000455.5(STK11):c.1178A>G (p.Asn393Ser)
|
rs1060499965
|
|
|
NM_000455.5(STK11):c.1179C>A (p.Asn393Lys)
|
rs863224360
|
|
|
NM_000455.5(STK11):c.1179C>G (p.Asn393Lys)
|
rs863224360
|
|
|
NM_000455.5(STK11):c.117C>G (p.Arg39=)
|
rs786203942
|
|
|
NM_000455.5(STK11):c.117C>T (p.Arg39=)
|
rs786203942
|
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
|
NM_000455.5(STK11):c.1180G>C (p.Gly394Arg)
|
rs768780695
|
|
|
NM_000455.5(STK11):c.1183A>C (p.Thr395Pro)
|
rs587782138
|
|
|
NM_000455.5(STK11):c.1185A>T (p.Thr395=)
|
rs370207155
|
|
|
NM_000455.5(STK11):c.1186G>A (p.Glu396Lys)
|
|
|
|
NM_000455.5(STK11):c.1186G>C (p.Glu396Gln)
|
rs763314442
|
|
|
NM_000455.5(STK11):c.1188G>A (p.Glu396=)
|
|
|
|
NM_000455.5(STK11):c.1189G>A (p.Ala397Thr)
|
rs587780008
|
|
|
NM_000455.5(STK11):c.1189_1190delinsTT (p.Ala397Leu)
|
|
|
|
NM_000455.5(STK11):c.118C>G (p.Arg40Gly)
|
rs1555734954
|
|
|
NM_000455.5(STK11):c.1191G>A (p.Ala397=)
|
rs774759899
|
|
|
NM_000455.5(STK11):c.1191G>C (p.Ala397=)
|
rs774759899
|
|
|
NM_000455.5(STK11):c.1191G>T (p.Ala397=)
|
|
|
|
NM_000455.5(STK11):c.1192G>A (p.Ala398Thr)
|
rs2145436152
|
|
|
NM_000455.5(STK11):c.1192G>C (p.Ala398Pro)
|
|
|
|
NM_000455.5(STK11):c.1192_1193delinsTT (p.Ala398Leu)
|
rs1599932256
|
|
|
NM_000455.5(STK11):c.1193C>G (p.Ala398Gly)
|
rs768058962
|
|
|
NM_000455.5(STK11):c.1193_1219del (p.Ala398_Ala406del)
|
rs2080822675
|
|
|
NM_000455.5(STK11):c.1194G>C (p.Ala398=)
|
rs184271025
|
|
|
NM_000455.5(STK11):c.1194dup (p.Gln399fs)
|
|
|
|
NM_000455.5(STK11):c.1196A>G (p.Gln399Arg)
|
|
|
|
NM_000455.5(STK11):c.1197_1198delinsAT (p.Gln399_Leu400=)
|
rs1599932274
|
|
|
NM_000455.5(STK11):c.1199T>A (p.Leu400Gln)
|
rs747545317
|
|
|
NM_000455.5(STK11):c.1199T>G (p.Leu400Arg)
|
|
|
|
NM_000455.5(STK11):c.11T>C (p.Val4Ala)
|
rs1599914720
|
|
|
NM_000455.5(STK11):c.1201A>G (p.Ser401Gly)
|
rs2080822902
|
|
|
NM_000455.5(STK11):c.1202G>A (p.Ser401Asn)
|
rs587782291
|
|
|
NM_000455.5(STK11):c.1204A>G (p.Thr402Ala)
|
|
|
|
NM_000455.5(STK11):c.1205C>G (p.Thr402Ser)
|
rs750055790
|
|
|
NM_000455.5(STK11):c.1205C>T (p.Thr402Ile)
|
rs750055790
|
|
|
NM_000455.5(STK11):c.1206C>T (p.Thr402=)
|
|
|
|
NM_000455.5(STK11):c.1208A>T (p.Lys403Ile)
|
rs587781633
|
|
|
NM_000455.5(STK11):c.120C>G (p.Arg40=)
|
rs878853984
|
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
|
NM_000455.5(STK11):c.1210T>C (p.Ser404Pro)
|
rs1555740191
|
|
|
NM_000455.5(STK11):c.1211C>A (p.Ser404Tyr)
|
rs200078204
|
|
|
NM_000455.5(STK11):c.1212C>A (p.Ser404=)
|
rs754945004
|
|
|
NM_000455.5(STK11):c.1212C>T (p.Ser404=)
|
rs754945004
|
|
|
NM_000455.5(STK11):c.1213A>G (p.Arg405Gly)
|
rs376718324
|
|
|
NM_000455.5(STK11):c.1215G>A (p.Arg405=)
|
rs781303270
|
|
|
NM_000455.5(STK11):c.1216G>A (p.Ala406Thr)
|
rs1330230723
|
|
|
NM_000455.5(STK11):c.1217C>G (p.Ala406Gly)
|
rs748202003
|
|
|
NM_000455.5(STK11):c.1218G>C (p.Ala406=)
|
rs769772524
|
|
|
NM_000455.5(STK11):c.121A>C (p.Lys41Gln)
|
rs1568690070
|
|
|
NM_000455.5(STK11):c.1221G>C (p.Glu407Asp)
|
rs1568717266
|
|
|
NM_000455.5(STK11):c.1224C>T (p.Gly408=)
|
rs1555740206
|
|
|
NM_000455.5(STK11):c.1225C>A (p.Arg409=)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
|
NM_000455.5(STK11):c.1226G>C (p.Arg409Pro)
|
rs587782364
|
|
|
NM_000455.5(STK11):c.1226G>T (p.Arg409Leu)
|
rs587782364
|
|
|
NM_000455.5(STK11):c.1228G>A (p.Ala410Thr)
|
rs2080823389
|
|
|
NM_000455.5(STK11):c.1228G>T (p.Ala410Ser)
|
|
|
|
NM_000455.5(STK11):c.1229C>A (p.Ala410Asp)
|
rs372329880
|
|
|
NM_000455.5(STK11):c.122A>C (p.Lys41Thr)
|
rs1555734959
|
|
|
NM_000455.5(STK11):c.1230C>A (p.Ala410=)
|
rs864622171
|
|
|
NM_000455.5(STK11):c.1230C>T (p.Ala410=)
|
rs864622171
|
|
|
NM_000455.5(STK11):c.1234A>G (p.Asn412Asp)
|
rs2145436345
|
|
|
NM_000455.5(STK11):c.1236C>A (p.Asn412Lys)
|
rs1158714606
|
|
|
NM_000455.5(STK11):c.1236C>G (p.Asn412Lys)
|
rs1158714606
|
|
|
NM_000455.5(STK11):c.1236C>T (p.Asn412=)
|
rs1158714606
|
|
|
NM_000455.5(STK11):c.1237C>T (p.Pro413Ser)
|
rs1386678110
|
|
|
NM_000455.5(STK11):c.1238C>T (p.Pro413Leu)
|
rs587782059
|
|
|
NM_000455.5(STK11):c.1239T>A (p.Pro413=)
|
rs786201330
|
|
|
NM_000455.5(STK11):c.1239T>C (p.Pro413=)
|
rs786201330
|
|
|
NM_000455.5(STK11):c.123G>A (p.Lys41=)
|
rs761762690
|
|
|
NM_000455.5(STK11):c.123G>T (p.Lys41Asn)
|
rs761762690
|
|
|
NM_000455.5(STK11):c.1240G>A (p.Ala414Thr)
|
rs2080823635
|
|
|
NM_000455.5(STK11):c.1240G>T (p.Ala414Ser)
|
rs2080823635
|
|
|
NM_000455.5(STK11):c.1242C>T (p.Ala414=)
|
|
|
|
NM_000455.5(STK11):c.1243C>A (p.Arg415Ser)
|
|
|
|
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly)
|
rs864622448
|
|
|
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys)
|
rs864622448
|
|
|
NM_000455.5(STK11):c.1244G>A (p.Arg415His)
|
rs775978755
|
|
|
NM_000455.5(STK11):c.1244G>C (p.Arg415Pro)
|
rs775978755
|
|
|
NM_000455.5(STK11):c.1244G>T (p.Arg415Leu)
|
rs775978755
|
|
|
NM_000455.5(STK11):c.1245C>A (p.Arg415=)
|
rs878853985
|
|
|
NM_000455.5(STK11):c.1246A>G (p.Lys416Glu)
|
rs2145436409
|
|
|
NM_000455.5(STK11):c.1249G>A (p.Ala417Thr)
|
rs587782876
|
|
|
NM_000455.5(STK11):c.124C>G (p.Arg42Gly)
|
|
|
|
NM_000455.5(STK11):c.124C>T (p.Arg42Trp)
|
rs765367492
|
|
|
NM_000455.5(STK11):c.1250C>A (p.Ala417Asp)
|
|
|
|
NM_000455.5(STK11):c.1250C>G (p.Ala417Gly)
|
rs1166243253
|
|
|
NM_000455.5(STK11):c.1253G>A (p.Cys418Tyr)
|
rs878853986
|
|
|
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser)
|
rs878853986
|
|
|
NM_000455.5(STK11):c.1255T>A (p.Ser419Thr)
|
rs969257745
|
|
|
NM_000455.5(STK11):c.1255_1256insTGAT (p.Ser419fs)
|
rs1568717471
|
|
|
NM_000455.5(STK11):c.1257C>G (p.Ser419=)
|
rs375328708
|
|
|
NM_000455.5(STK11):c.1258G>A (p.Ala420Thr)
|
rs762482152
|
|
|
NM_000455.5(STK11):c.1259C>A (p.Ala420Asp)
|
rs369033659
|
|
|
NM_000455.5(STK11):c.125G>A (p.Arg42Gln)
|
rs148830698
|
|
|
NM_000455.5(STK11):c.1260C>A (p.Ala420=)
|
rs2145436473
|
|
|
NM_000455.5(STK11):c.1260C>T (p.Ala420=)
|
|
|
|
NM_000455.5(STK11):c.1261_1262inv (p.Ser421Leu)
|
|
|
|
NM_000455.5(STK11):c.1262GCA[1] (p.Ser422del)
|
rs587782439
|
|
|
NM_000455.5(STK11):c.1262_1263delinsAT (p.Ser421Asn)
|
rs1555740261
|
|
|
NM_000455.5(STK11):c.1264A>C (p.Ser422Arg)
|
rs1555740263
|
|
|
NM_000455.5(STK11):c.1264_1265delinsCC (p.Ser422Pro)
|
rs864622091
|
|
|
NM_000455.5(STK11):c.1266C>G (p.Ser422Arg)
|
rs751352435
|
|
|
NM_000455.5(STK11):c.1266C>T (p.Ser422=)
|
rs751352435
|
|
|
NM_000455.5(STK11):c.1267A>C (p.Lys423Gln)
|
rs1555740268
|
|
|
NM_000455.5(STK11):c.1267A>G (p.Lys423Glu)
|
rs1555740268
|
|
|
NM_000455.5(STK11):c.1268A>G (p.Lys423Arg)
|
rs2145436520
|
|
|
NM_000455.5(STK11):c.1270A>G (p.Ile424Val)
|
rs2145436527
|
|
|
NM_000455.5(STK11):c.1272C>A (p.Ile424=)
|
rs2145436544
|
|
|
NM_000455.5(STK11):c.1272C>T (p.Ile424=)
|
rs2145436544
|
|
|
NM_000455.5(STK11):c.1273C>A (p.Arg425Ser)
|
rs754853898
|
|
|
NM_000455.5(STK11):c.1273C>T (p.Arg425Cys)
|
rs754853898
|
|
|
NM_000455.5(STK11):c.1274G>C (p.Arg425Pro)
|
rs730881992
|
|
|
NM_000455.5(STK11):c.1274G>T (p.Arg425Leu)
|
rs730881992
|
|
|
NM_000455.5(STK11):c.1275C>T (p.Arg425=)
|
rs2145436556
|
|
|
NM_000455.5(STK11):c.1276C>A (p.Arg426=)
|
rs587782687
|
|
|
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly)
|
rs587782687
|
|
|
NM_000455.5(STK11):c.1277G>C (p.Arg426Pro)
|
rs752699287
|
|
|
NM_000455.5(STK11):c.1277G>T (p.Arg426Leu)
|
rs752699287
|
|
|
NM_000455.5(STK11):c.1279C>T (p.Leu427=)
|
rs1222940657
|
|
|
NM_000455.5(STK11):c.1280T>C (p.Leu427Pro)
|
|
|
|
NM_000455.5(STK11):c.1281G>C (p.Leu427=)
|
|
|
|
NM_000455.5(STK11):c.1281G>T (p.Leu427=)
|
rs1555740278
|
|
|
NM_000455.5(STK11):c.1282T>A (p.Ser428Thr)
|
rs1064793938
|
|
|
NM_000455.5(STK11):c.1283C>A (p.Ser428Ter)
|
rs587781537
|
|
|
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp)
|
rs587781537
|
|
|
NM_000455.5(STK11):c.1284G>C (p.Ser428=)
|
rs369097329
|
|
|
NM_000455.5(STK11):c.1284G>T (p.Ser428=)
|
rs369097329
|
|
|
NM_000455.5(STK11):c.1285G>A (p.Ala429Thr)
|
|
|
|
NM_000455.5(STK11):c.1286C>T (p.Ala429Val)
|
rs757369900
|
|
|
NM_000455.5(STK11):c.1287C>T (p.Ala429=)
|
rs786201282
|
|
|
NM_000455.5(STK11):c.128C>T (p.Ala43Val)
|
rs1555734967
|
|
|
NM_000455.5(STK11):c.1290C>T (p.Cys430=)
|
rs786201451
|
|
|
NM_000455.5(STK11):c.1292_*15del (p.Lys431fs)
|
rs1555740288
|
|
|
NM_000455.5(STK11):c.1293G>A (p.Lys431=)
|
rs1060503787
|
|
|
NM_000455.5(STK11):c.1294C>T (p.Gln432Ter)
|
rs1057523149
|
|
|
NM_000455.5(STK11):c.1296G>C (p.Gln432His)
|
rs587781179
|
|
|
NM_000455.5(STK11):c.1299G>A (p.Gln433=)
|
rs786201331
|
|
|
NM_000455.5(STK11):c.129C>G (p.Ala43=)
|
rs1555734970
|
|
|
NM_000455.5(STK11):c.129del (p.Lys44fs)
|
rs1060499961
|
|
|
NM_000455.5(STK11):c.12G>A (p.Val4=)
|
rs1379886566
|
|
|
NM_000455.5(STK11):c.131_136del (p.Lys44_Leu45del)
|
|
|
|
NM_000455.5(STK11):c.132G>C (p.Lys44Asn)
|
|
|
|
NM_000455.5(STK11):c.132dup (p.Leu45fs)
|
rs2145405064
|
|
|
NM_000455.5(STK11):c.133C>G (p.Leu45Val)
|
rs1568690121
|
|
|
NM_000455.5(STK11):c.135C>A (p.Leu45=)
|
rs1362065365
|
|
|
NM_000455.5(STK11):c.137T>A (p.Ile46Asn)
|
|
|
|
NM_000455.5(STK11):c.138C>G (p.Ile46Met)
|
rs2080671593
|
|
|
NM_000455.5(STK11):c.138C>T (p.Ile46=)
|
rs2080671593
|
|
|
NM_000455.5(STK11):c.139G>A (p.Gly47Ser)
|
|
|
|
NM_000455.5(STK11):c.13G>A (p.Asp5Asn)
|
|
|
|
NM_000455.5(STK11):c.140G>A (p.Gly47Asp)
|
|
|
|
NM_000455.5(STK11):c.140G>T (p.Gly47Val)
|
|
|
|
NM_000455.5(STK11):c.141dup (p.Lys48fs)
|
rs2145405118
|
|
|
NM_000455.5(STK11):c.143A>G (p.Lys48Arg)
|
rs766776431
|
|
|
NM_000455.5(STK11):c.144G>T (p.Lys48Asn)
|
rs1555734974
|
|
|
NM_000455.5(STK11):c.145dup (p.Tyr49fs)
|
rs2145405146
|
|
|
NM_000455.5(STK11):c.148C>G (p.Leu50Val)
|
|
|
|
NM_000455.5(STK11):c.148C>T (p.Leu50=)
|
rs2145405165
|
|
|
NM_000455.5(STK11):c.149T>G (p.Leu50Arg)
|
rs587783061
|
|
|
NM_000455.5(STK11):c.14A>G (p.Asp5Gly)
|
rs1178249537
|
|
|
NM_000455.5(STK11):c.151A>G (p.Met51Val)
|
rs730881986
|
|
|
NM_000455.5(STK11):c.151_162del (p.Met51_Leu54del)
|
rs1131690916
|
|
|
NM_000455.5(STK11):c.152dup (p.Met51fs)
|
rs1568690161
|
|
|
NM_000455.5(STK11):c.153G>A (p.Met51Ile)
|
rs2080671791
|
|
|
NM_000455.5(STK11):c.155_157del (p.Gly52del)
|
rs1131690917
|
|
|
NM_000455.5(STK11):c.156G>A (p.Gly52=)
|
|
|
|
NM_000455.5(STK11):c.156G>T (p.Gly52=)
|
rs1060499953
|
|
|
NM_000455.5(STK11):c.157G>A (p.Asp53Asn)
|
rs1555734984
|
|
|
NM_000455.5(STK11):c.157dup (p.Asp53fs)
|
rs1131690917
|
|
|
NM_000455.5(STK11):c.158dup (p.Asp53fs)
|
|
|
|
NM_000455.5(STK11):c.159C>T (p.Asp53=)
|
rs876660426
|
|
|
NM_000455.5(STK11):c.159_170del (p.Asp53_Gly56del)
|
rs1131690953
|
|
|
NM_000455.5(STK11):c.160C>G (p.Leu54Val)
|
|
|
|
NM_000455.5(STK11):c.162G>A (p.Leu54=)
|
|
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
|
|
NM_000455.5(STK11):c.166G>T (p.Gly56Trp)
|
rs753252227
|
|
|
NM_000455.5(STK11):c.168G>A (p.Gly56=)
|
rs1057521938
|
|
|
NM_000455.5(STK11):c.168G>C (p.Gly56=)
|
rs1057521938
|
|
|
NM_000455.5(STK11):c.169G>T (p.Glu57Ter)
|
rs137854584
|
|
|
NM_000455.5(STK11):c.169dup (p.Glu57fs)
|
rs121913319
|
|
|
NM_000455.5(STK11):c.16C>A (p.Pro6Thr)
|
rs1360284524
|
|
|
NM_000455.5(STK11):c.16C>T (p.Pro6Ser)
|
rs1360284524
|
|
|
NM_000455.5(STK11):c.171A>G (p.Glu57=)
|
rs1060503785
|
|
|
NM_000455.5(STK11):c.173G>A (p.Gly58Asp)
|
rs2080672099
|
|
|
NM_000455.5(STK11):c.175T>C (p.Ser59Pro)
|
rs2080672150
|
|
|
NM_000455.5(STK11):c.176C>T (p.Ser59Phe)
|
rs876661128
|
|
|
NM_000455.5(STK11):c.179_180dup (p.Gly61fs)
|
rs1555735001
|
|
|
NM_000455.5(STK11):c.179dup (p.Tyr60Ter)
|
rs876661012
|
|
|
NM_000455.5(STK11):c.17C>G (p.Pro6Arg)
|
rs775346785
|
|
|
NM_000455.5(STK11):c.17C>T (p.Pro6Leu)
|
rs775346785
|
|
|
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter)
|
rs778376925
|
|
|
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter)
|
rs778376925
|
|
|
NM_000455.5(STK11):c.180del (p.Ser59_Tyr60insTer)
|
rs1555735008
|
|
|
NM_000455.5(STK11):c.182G>A (p.Gly61Asp)
|
rs2080672271
|
|
|
NM_000455.5(STK11):c.183C>T (p.Gly61=)
|
|
|
|
NM_000455.5(STK11):c.188T>C (p.Val63Ala)
|
rs1568690276
|
|
|
NM_000455.5(STK11):c.189G>A (p.Val63=)
|
rs1342321548
|
|
|
NM_000455.5(STK11):c.18G>A (p.Pro6=)
|
rs1555734869
|
|
|
NM_000455.5(STK11):c.18G>C (p.Pro6=)
|
rs1555734869
|
|
|
NM_000455.5(STK11):c.18_19delinsAA (p.Gln7Lys)
|
rs1599914747
|
|
|
NM_000455.5(STK11):c.192G>A (p.Lys64=)
|
rs2145405404
|
|
|
NM_000455.5(STK11):c.196G>A (p.Val66Met)
|
rs1599915144
|
|
|
NM_000455.5(STK11):c.197_225del (p.Val66fs)
|
rs1599915131
|
|
|
NM_000455.5(STK11):c.197dup (p.Leu67fs)
|
rs397518441
|
|
|
NM_000455.5(STK11):c.199C>T (p.Leu67=)
|
rs2145405461
|
|
|
NM_000455.5(STK11):c.199del (p.Leu67fs)
|
rs1555735014
|
|
|
NM_000455.5(STK11):c.19C>T (p.Gln7Ter)
|
rs2080669968
|
|
|
NM_000455.5(STK11):c.200T>C (p.Leu67Pro)
|
rs137853077
|
|
|
NM_000455.5(STK11):c.201G>C (p.Leu67=)
|
rs2145405473
|
|
|
NM_000455.5(STK11):c.202G>T (p.Asp68Tyr)
|
rs779734289
|
|
|
NM_000455.5(STK11):c.204C>G (p.Asp68Glu)
|
|
|
|
NM_000455.5(STK11):c.204C>T (p.Asp68=)
|
rs1337286592
|
|
|
NM_000455.5(STK11):c.205T>C (p.Ser69Pro)
|
rs2080672529
|
|
|
NM_000455.5(STK11):c.206C>G (p.Ser69Trp)
|
rs1473347455
|
|
|
NM_000455.5(STK11):c.206C>T (p.Ser69Leu)
|
rs1473347455
|
|
|
NM_000455.5(STK11):c.207G>A (p.Ser69=)
|
rs746735912
|
|
|
NM_000455.5(STK11):c.207G>T (p.Ser69=)
|
rs746735912
|
|
|
NM_000455.5(STK11):c.209A>G (p.Glu70Gly)
|
rs2080672614
|
|
|
NM_000455.5(STK11):c.20A>G (p.Gln7Arg)
|
rs2145404457
|
|
|
NM_000455.5(STK11):c.210G>A (p.Glu70=)
|
rs1555735020
|
|
|
NM_000455.5(STK11):c.211A>C (p.Thr71Pro)
|
rs1568690334
|
|
|
NM_000455.5(STK11):c.212C>T (p.Thr71Met)
|
rs2145405546
|
|
|
NM_000455.5(STK11):c.213G>C (p.Thr71=)
|
|
|
|
NM_000455.5(STK11):c.216G>T (p.Leu72=)
|
rs1057524353
|
|
|
NM_000455.5(STK11):c.217T>C (p.Cys73Arg)
|
rs1568690354
|
|
|
NM_000455.5(STK11):c.218G>A (p.Cys73Tyr)
|
rs2145405592
|
|
|
NM_000455.5(STK11):c.219C>G (p.Cys73Trp)
|
|
|
|
NM_000455.5(STK11):c.224G>A (p.Arg75Lys)
|
rs1599915204
|
|
|
NM_000455.5(STK11):c.227C>T (p.Ala76Val)
|
rs773422811
|
|
|
NM_000455.5(STK11):c.228C>T (p.Ala76=)
|
rs763166927
|
|
|
NM_000455.5(STK11):c.229G>A (p.Val77Ile)
|
rs1167680274
|
|
|
NM_000455.5(STK11):c.22C>A (p.Gln8Lys)
|
|
|
|
NM_000455.5(STK11):c.22C>G (p.Gln8Glu)
|
rs760588289
|
|
|
NM_000455.5(STK11):c.231C>G (p.Val77=)
|
rs1438805544
|
|
|
NM_000455.5(STK11):c.233A>C (p.Lys78Thr)
|
rs2080672927
|
|
|
NM_000455.5(STK11):c.233A>G (p.Lys78Arg)
|
rs2080672927
|
|
|
NM_000455.5(STK11):c.237C>A (p.Ile79=)
|
rs751859508
|
|
|
NM_000455.5(STK11):c.238C>G (p.Leu80Val)
|
rs1131690927
|
|
|
NM_000455.5(STK11):c.240C>T (p.Leu80=)
|
rs2145405739
|
|
|
NM_000455.5(STK11):c.241A>C (p.Lys81Gln)
|
rs2080673023
|
|
|
NM_000455.5(STK11):c.241AAG[3] (p.Lys84del)
|
rs587782056
|
|
|
NM_000455.5(STK11):c.242A>C (p.Lys81Thr)
|
rs1555735046
|
|
|
NM_000455.5(STK11):c.246G>A (p.Lys82=)
|
rs759751510
|
|
|
NM_000455.5(STK11):c.248A>G (p.Lys83Arg)
|
rs374006397
|
|
|
NM_000455.5(STK11):c.24G>A (p.Gln8=)
|
|
|
|
NM_000455.5(STK11):c.24G>C (p.Gln8His)
|
rs1379630288
|
|
|
NM_000455.5(STK11):c.250A>C (p.Lys84Gln)
|
rs137853076
|
|
|
NM_000455.5(STK11):c.250A>T (p.Lys84Ter)
|
rs137853076
|
|
|
NM_000455.5(STK11):c.255G>A (p.Leu85=)
|
rs1599915264
|
|
|
NM_000455.5(STK11):c.256C>T (p.Arg86Ter)
|
rs1057520039
|
|
|
NM_000455.5(STK11):c.257G>A (p.Arg86Gln)
|
|
|
|
NM_000455.5(STK11):c.258A>G (p.Arg86=)
|
rs2145405874
|
|
|
NM_000455.5(STK11):c.25C>G (p.Leu9Val)
|
rs876661079
|
|
|
NM_000455.5(STK11):c.25C>T (p.Leu9=)
|
rs876661079
|
|
|
NM_000455.5(STK11):c.261_262dup (p.Ile88fs)
|
rs2080673271
|
|
|
NM_000455.5(STK11):c.262A>G (p.Ile88Val)
|
rs2080673286
|
|
|
NM_000455.5(STK11):c.264C>G (p.Ile88Met)
|
|
|
|
NM_000455.5(STK11):c.264C>T (p.Ile88=)
|
rs56354945
|
|
|
NM_000455.5(STK11):c.265C>T (p.Pro89Ser)
|
rs1599915282
|
|
|
NM_000455.5(STK11):c.266C>G (p.Pro89Arg)
|
|
|
|
NM_000455.5(STK11):c.266C>T (p.Pro89Leu)
|
|
|
|
NM_000455.5(STK11):c.267C>T (p.Pro89=)
|
rs778290623
|
|
|
NM_000455.5(STK11):c.26T>A (p.Leu9Gln)
|
rs764154797
|
|
|
NM_000455.5(STK11):c.26T>C (p.Leu9Pro)
|
|
|
|
NM_000455.5(STK11):c.270C>T (p.Asn90=)
|
rs1555735064
|
|
|
NM_000455.5(STK11):c.271G>A (p.Gly91Arg)
|
|
|
|
NM_000455.5(STK11):c.273G>A (p.Gly91=)
|
rs1244118815
|
|
|
NM_000455.5(STK11):c.274G>A (p.Glu92Lys)
|
rs2145405963
|
|
|
NM_000455.5(STK11):c.275A>T (p.Glu92Val)
|
|
|
|
NM_000455.5(STK11):c.279C>T (p.Ala93=)
|
rs786201852
|
|
|
NM_000455.5(STK11):c.27G>A (p.Leu9=)
|
rs876659432
|
|
|
NM_000455.5(STK11):c.27G>T (p.Leu9=)
|
rs876659432
|
|
|
NM_000455.5(STK11):c.280A>G (p.Asn94Asp)
|
|
|
|
NM_000455.5(STK11):c.281A>G (p.Asn94Ser)
|
rs2145405999
|
|
|
NM_000455.5(STK11):c.283G>A (p.Val95Met)
|
rs1333336656
|
|
|
NM_000455.5(STK11):c.285G>T (p.Val95=)
|
rs1354586362
|
|
|
NM_000455.5(STK11):c.286A>G (p.Lys96Glu)
|
rs876658314
|
|
|
NM_000455.5(STK11):c.287A>G (p.Lys96Arg)
|
|
|
|
NM_000455.5(STK11):c.288G>A (p.Lys96=)
|
rs1599915310
|
|
|
NM_000455.5(STK11):c.288_289dup (p.Lys97fs)
|
rs2080673579
|
|
|
NM_000455.5(STK11):c.289A>T (p.Lys97Ter)
|
rs2080673604
|
|
|
NM_000455.5(STK11):c.290+10G>A
|
rs864622101
|
|
|
NM_000455.5(STK11):c.290+10G>C
|
rs864622101
|
|
|
NM_000455.5(STK11):c.290+11C>T
|
rs1057520983
|
|
|
NM_000455.5(STK11):c.290+13T>G
|
rs1568690565
|
|
|
NM_000455.5(STK11):c.290+15C>G
|
rs1057520378
|
|
|
NM_000455.5(STK11):c.290+18G>T
|
rs757929417
|
|
|
NM_000455.5(STK11):c.290+19G>C
|
|
|
|
NM_000455.5(STK11):c.290+19G>T
|
rs1381768849
|
|
|
NM_000455.5(STK11):c.290+1G>C
|
rs1131690950
|
|
|
NM_000455.5(STK11):c.290+1G>T
|
rs1131690950
|
|
|
NM_000455.5(STK11):c.290+1_290+7del
|
rs1555735080
|
|
|
NM_000455.5(STK11):c.290+20G>A
|
rs1453873583
|
|
|
NM_000455.5(STK11):c.290+20G>T
|
|
|
|
NM_000455.5(STK11):c.290+21_290+26dup
|
rs1555735086
|
|
|
NM_000455.5(STK11):c.290+2T>A
|
|
|
|
NM_000455.5(STK11):c.290+2_290+4del
|
rs1568690546
|
|
|
NM_000455.5(STK11):c.290+3A>C
|
rs863224668
|
|
|
NM_000455.5(STK11):c.290+3A>G
|
rs863224668
|
|
|
NM_000455.5(STK11):c.290+4A>T
|
rs2080673714
|
|
|
NM_000455.5(STK11):c.290+4_290+7del
|
rs587782096
|
|
|
NM_000455.5(STK11):c.290+6T>C
|
|
|
|
NM_000455.5(STK11):c.290+7A>T
|
rs587782371
|
|
|
NM_000455.5(STK11):c.291-10_922del
|
|
|
|
NM_000455.5(STK11):c.291-11C>T
|
rs1234044836
|
|
|
NM_000455.5(STK11):c.291-14C>G
|
|
|
|
NM_000455.5(STK11):c.291-15_292del
|
rs1599924500
|
|
|
NM_000455.5(STK11):c.291-17T>C
|
rs367843248
|
|
|
NM_000455.5(STK11):c.291-17del
|
rs764973846
|
|
|
NM_000455.5(STK11):c.291-19C>T
|
|
|
|
NM_000455.5(STK11):c.291-1G>C
|
rs112675807
|
|
|
NM_000455.5(STK11):c.291-1G>T
|
rs112675807
|
|
|
NM_000455.5(STK11):c.291-20C>T
|
rs973142127
|
|
|
NM_000455.5(STK11):c.291-2A>C
|
rs876658584
|
|
|
NM_000455.5(STK11):c.291-2A>G
|
rs876658584
|
|
|
NM_000455.5(STK11):c.291-3C>T
|
rs864622697
|
|
|
NM_000455.5(STK11):c.291-4C>T
|
rs876658317
|
|
|
NM_000455.5(STK11):c.291-5C>G
|
|
|
|
NM_000455.5(STK11):c.291-5C>T
|
rs2145420492
|
|
|
NM_000455.5(STK11):c.291-9C>T
|
rs1284524218
|
|
|
NM_000455.5(STK11):c.291G>A (p.Lys97=)
|
rs1599924529
|
|
|
NM_000455.5(STK11):c.291G>C (p.Lys97Asn)
|
rs1599924529
|
|
|
NM_000455.5(STK11):c.292G>A (p.Glu98Lys)
|
|
|
|
NM_000455.5(STK11):c.294A>G (p.Glu98=)
|
rs2145420522
|
|
|
NM_000455.5(STK11):c.296T>C (p.Ile99Thr)
|
rs2145420528
|
|
|
NM_000455.5(STK11):c.29G>T (p.Gly10Val)
|
rs2080670108
|
|
|
NM_000455.5(STK11):c.29dup (p.Met11fs)
|
rs2145404496
|
|
|
NM_000455.5(STK11):c.300A>C (p.Gln100His)
|
rs765890997
|
|
|
NM_000455.5(STK11):c.300A>T (p.Gln100His)
|
rs765890997
|
|
|
NM_000455.5(STK11):c.301C>T (p.Leu101=)
|
rs587780716
|
|
|
NM_000455.5(STK11):c.303A>G (p.Leu101=)
|
rs1057522543
|
|
|
NM_000455.5(STK11):c.304C>T (p.Leu102=)
|
rs1364363777
|
|
|
NM_000455.5(STK11):c.306G>T (p.Leu102=)
|
rs370130178
|
|
|
NM_000455.5(STK11):c.307A>G (p.Arg103Gly)
|
rs1568703342
|
|
|
NM_000455.5(STK11):c.308G>C (p.Arg103Thr)
|
rs2080758446
|
|
|
NM_000455.5(STK11):c.309G>A (p.Arg103=)
|
|
|
|
NM_000455.5(STK11):c.30C>T (p.Gly10=)
|
rs876660012
|
|
|
NM_000455.5(STK11):c.311G>C (p.Arg104Thr)
|
|
|
|
NM_000455.5(STK11):c.312G>C (p.Arg104Ser)
|
rs780749732
|
|
|
NM_000455.5(STK11):c.312G>T (p.Arg104Ser)
|
rs780749732
|
|
|
NM_000455.5(STK11):c.314T>G (p.Leu105Ter)
|
rs2080758521
|
|
|
NM_000455.5(STK11):c.317G>T (p.Arg106Leu)
|
rs375622587
|
|
|
NM_000455.5(STK11):c.318G>C (p.Arg106=)
|
rs777784520
|
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
|
NM_000455.5(STK11):c.31A>G (p.Met11Val)
|
rs753834428
|
|
|
NM_000455.5(STK11):c.31A>T (p.Met11Leu)
|
rs753834428
|
|
|
NM_000455.5(STK11):c.323A>G (p.Lys108Arg)
|
rs1057520040
|
|
|
NM_000455.5(STK11):c.325A>C (p.Asn109His)
|
rs1599924587
|
|
|
NM_000455.5(STK11):c.326del (p.Asn109fs)
|
rs886041996
|
|
|
NM_000455.5(STK11):c.326dup (p.Asn109fs)
|
|
|
|
NM_000455.5(STK11):c.328del (p.Val110fs)
|
rs2145420680
|
|
|
NM_000455.5(STK11):c.329T>A (p.Val110Asp)
|
rs2145420687
|
|
|
NM_000455.5(STK11):c.330C>A (p.Val110=)
|
|
|
|
NM_000455.5(STK11):c.330C>T (p.Val110=)
|
rs368548358
|
|
|
NM_000455.5(STK11):c.332_333insG (p.Ile111fs)
|
rs2145420699
|
|
|
NM_000455.5(STK11):c.332del (p.Ile111fs)
|
|
|
|
NM_000455.5(STK11):c.333C>T (p.Ile111=)
|
rs1555737428
|
|
|
NM_000455.5(STK11):c.334C>A (p.Gln112Lys)
|
|
|
|
NM_000455.5(STK11):c.334C>T (p.Gln112Ter)
|
rs771049807
|
|
|
NM_000455.5(STK11):c.337C>A (p.Leu113Met)
|
rs1555737432
|
|
|
NM_000455.5(STK11):c.337C>G (p.Leu113Val)
|
rs1555737432
|
|
|
NM_000455.5(STK11):c.337C>T (p.Leu113=)
|
|
|
|
NM_000455.5(STK11):c.339G>A (p.Leu113=)
|
|
|
|
NM_000455.5(STK11):c.33G>A (p.Met11Ile)
|
|
|
|
NM_000455.5(STK11):c.33G>T (p.Met11Ile)
|
rs757411357
|
|
|
NM_000455.5(STK11):c.340G>A (p.Val114Met)
|
|
|
|
NM_000455.5(STK11):c.343G>A (p.Asp115Asn)
|
rs2145420735
|
|
|
NM_000455.5(STK11):c.344A>G (p.Asp115Gly)
|
|
|
|
NM_000455.5(STK11):c.345T>C (p.Asp115=)
|
rs2145420737
|
|
|
NM_000455.5(STK11):c.347T>C (p.Val116Ala)
|
rs1599924608
|
|
|
NM_000455.5(STK11):c.347_350dup (p.Leu117fs)
|
rs2145420751
|
|
|
NM_000455.5(STK11):c.348G>C (p.Val116=)
|
rs774482643
|
|
|
NM_000455.5(STK11):c.350T>C (p.Leu117Ser)
|
rs1296728798
|
|
|
NM_000455.5(STK11):c.350del (p.Leu117fs)
|
rs2145420765
|
|
|
NM_000455.5(STK11):c.351A>G (p.Leu117=)
|
rs2080758837
|
|
|
NM_000455.5(STK11):c.351A>T (p.Leu117Phe)
|
rs2080758837
|
|
|
NM_000455.5(STK11):c.352T>C (p.Tyr118His)
|
rs2145420779
|
|
|
NM_000455.5(STK11):c.352T>G (p.Tyr118Asp)
|
|
|
|
NM_000455.5(STK11):c.353A>G (p.Tyr118Cys)
|
|
|
|
NM_000455.5(STK11):c.354C>G (p.Tyr118Ter)
|
rs1555737439
|
|
|
NM_000455.5(STK11):c.354C>T (p.Tyr118=)
|
rs1555737439
|
|
|
NM_000455.5(STK11):c.354_362del (p.Tyr118_Glu121delinsTer)
|
rs2145420792
|
|
|
NM_000455.5(STK11):c.356A>G (p.Asn119Ser)
|
|
|
|
NM_000455.5(STK11):c.358G>C (p.Glu120Gln)
|
rs775595174
|
|
|
NM_000455.5(STK11):c.358G>T (p.Glu120Ter)
|
rs775595174
|
|
|
NM_000455.5(STK11):c.359A>C (p.Glu120Ala)
|
rs1205003744
|
|
|
NM_000455.5(STK11):c.361G>A (p.Glu121Lys)
|
|
|
|
NM_000455.5(STK11):c.362A>G (p.Glu121Gly)
|
rs1555737454
|
|
|
NM_000455.5(STK11):c.363G>A (p.Glu121=)
|
rs864622574
|
|
|
NM_000455.5(STK11):c.364A>C (p.Lys122Gln)
|
rs1555737463
|
|
|
NM_000455.5(STK11):c.365A>G (p.Lys122Arg)
|
rs2080759053
|
|
|
NM_000455.5(STK11):c.367C>G (p.Gln123Glu)
|
rs1131690925
|
|
|
NM_000455.5(STK11):c.367C>T (p.Gln123Ter)
|
rs1131690925
|
|
|
NM_000455.5(STK11):c.36C>T (p.Phe12=)
|
|
|
|
NM_000455.5(STK11):c.371A>C (p.Lys124Thr)
|
|
|
|
NM_000455.5(STK11):c.372A>G (p.Lys124=)
|
|
|
|
NM_000455.5(STK11):c.373A>G (p.Met125Val)
|
rs2145420870
|
|
|
NM_000455.5(STK11):c.374+10C>T
|
|
|
|
NM_000455.5(STK11):c.374+13G>A
|
rs1568703690
|
|
|
NM_000455.5(STK11):c.374+13G>C
|
rs1568703690
|
|
|
NM_000455.5(STK11):c.374+14T>C
|
|
|
|
NM_000455.5(STK11):c.374+16T>C
|
rs767150201
|
|
|
NM_000455.5(STK11):c.374+18G>A
|
rs752401138
|
|
|
NM_000455.5(STK11):c.374+18G>C
|
|
|
|
NM_000455.5(STK11):c.374+19_374+24del
|
rs2145420922
|
|
|
NM_000455.5(STK11):c.374+1A>G
|
rs1131690951
|
|
|
NM_000455.5(STK11):c.374+2T>C
|
rs1555737480
|
|
|
NM_000455.5(STK11):c.374+3A>G
|
rs1555737481
|
|
|
NM_000455.5(STK11):c.374+5C>A
|
rs2145420888
|
|
|
NM_000455.5(STK11):c.374+5C>T
|
|
|
|
NM_000455.5(STK11):c.374+6C>T
|
rs2080759189
|
|
|
NM_000455.5(STK11):c.374+6del
|
rs2080759180
|
|
|
NM_000455.5(STK11):c.374+9T>C
|
|
|
|
NM_000455.5(STK11):c.375-10A>T
|
|
|
|
NM_000455.5(STK11):c.375-13C>T
|
rs1568705244
|
|
|
NM_000455.5(STK11):c.375-14C>T
|
rs2080764991
|
|
|
NM_000455.5(STK11):c.375-16G>C
|
|
|
|
NM_000455.5(STK11):c.375-16_375-15delinsCC
|
rs2145422079
|
|
|
NM_000455.5(STK11):c.375-17T>G
|
|
|
|
NM_000455.5(STK11):c.375-18G>C
|
|
|
|
NM_000455.5(STK11):c.375-20G>T
|
|
|
|
NM_000455.5(STK11):c.375-2A>G
|
rs2080765141
|
|
|
NM_000455.5(STK11):c.375-3C>T
|
rs1599925284
|
|
|
NM_000455.5(STK11):c.375-5C>A
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.375-5C>G
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.375-5C>T
|
rs1057517626
|
|
|
NM_000455.5(STK11):c.375-6C>A
|
rs1599925278
|
|
|
NM_000455.5(STK11):c.375-7_375-6del
|
rs2080765043
|
|
|
NM_000455.5(STK11):c.375-8C>G
|
|
|
|
NM_000455.5(STK11):c.375-9G>C
|
rs1060503782
|
|
|
NM_000455.5(STK11):c.375-9G>T
|
rs1060503782
|
|
|
NM_000455.5(STK11):c.375G>A (p.Met125Ile)
|
rs1421605142
|
|
|
NM_000455.5(STK11):c.375del (p.Met125fs)
|
|
|
|
NM_000455.5(STK11):c.378T>C (p.Tyr126=)
|
rs2145422154
|
|
|
NM_000455.5(STK11):c.379A>G (p.Met127Val)
|
rs1599925292
|
|
|
NM_000455.5(STK11):c.37A>G (p.Thr13Ala)
|
rs2145404536
|
|
|
NM_000455.5(STK11):c.382G>C (p.Val128Leu)
|
|
|
|
NM_000455.5(STK11):c.384G>C (p.Val128=)
|
rs1599925298
|
|
|
NM_000455.5(STK11):c.385A>G (p.Met129Val)
|
rs1599925301
|
|
|
NM_000455.5(STK11):c.385del (p.Met129fs)
|
|
|
|
NM_000455.5(STK11):c.389A>T (p.Glu130Val)
|
rs1568705335
|
|
|
NM_000455.5(STK11):c.38C>G (p.Thr13Arg)
|
rs1599914790
|
|
|
NM_000455.5(STK11):c.38C>T (p.Thr13Met)
|
rs1599914790
|
|
|
NM_000455.5(STK11):c.390G>A (p.Glu130=)
|
rs1159834424
|
|
|
NM_000455.5(STK11):c.393C>T (p.Tyr131=)
|
|
|
|
NM_000455.5(STK11):c.394T>C (p.Cys132Arg)
|
rs2080765290
|
|
|
NM_000455.5(STK11):c.394del (p.Cys132fs)
|
rs864622707
|
|
|
NM_000455.5(STK11):c.395G>A (p.Cys132Tyr)
|
|
|
|
NM_000455.5(STK11):c.396C>G (p.Cys132Trp)
|
rs730881969
|
|
|
NM_000455.5(STK11):c.397G>A (p.Val133Met)
|
rs567769257
|
|
|
NM_000455.5(STK11):c.399G>A (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.399G>C (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.399G>T (p.Val133=)
|
rs757021648
|
|
|
NM_000455.5(STK11):c.39G>C (p.Thr13=)
|
rs765330434
|
|
|
NM_000455.5(STK11):c.402T>C (p.Cys134=)
|
rs778868074
|
|
|
NM_000455.5(STK11):c.402_403del (p.Cys134fs)
|
rs587782424
|
|
|
NM_000455.5(STK11):c.404G>C (p.Gly135Ala)
|
rs1599925335
|
|
|
NM_000455.5(STK11):c.406A>G (p.Met136Val)
|
rs1568705410
|
|
|
NM_000455.5(STK11):c.407T>C (p.Met136Thr)
|
rs1060499958
|
|
|
NM_000455.5(STK11):c.408G>A (p.Met136Ile)
|
rs786202544
|
|
|
NM_000455.5(STK11):c.409C>A (p.Gln137Lys)
|
rs730881970
|
|
|
NM_000455.5(STK11):c.410A>G (p.Gln137Arg)
|
rs1568705439
|
|
|
NM_000455.5(STK11):c.414A>G (p.Glu138=)
|
rs1045257509
|
|
|
NM_000455.5(STK11):c.418_420del (p.Leu140del)
|
rs1599925362
|
|
|
NM_000455.5(STK11):c.418del (p.Leu140fs)
|
rs397518440
|
|
|
NM_000455.5(STK11):c.419T>C (p.Leu140Pro)
|
rs1555737790
|
|
|
NM_000455.5(STK11):c.423C>T (p.Asp141=)
|
rs1315791661
|
|
|
NM_000455.5(STK11):c.424A>G (p.Ser142Gly)
|
rs1213608514
|
|
|
NM_000455.5(STK11):c.425G>A (p.Ser142Asn)
|
rs1568705518
|
|
|
NM_000455.5(STK11):c.427G>C (p.Val143Leu)
|
|
|
|
NM_000455.5(STK11):c.429G>A (p.Val143=)
|
|
|
|
NM_000455.5(STK11):c.429_441del (p.Pro144fs)
|
rs2145422371
|
|
|
NM_000455.5(STK11):c.432G>T (p.Pro144=)
|
rs376788924
|
|
|
NM_000455.5(STK11):c.432_454dup (p.Gln152fs)
|
|
|
|
NM_000455.5(STK11):c.433G>A (p.Glu145Lys)
|
|
|
|
NM_000455.5(STK11):c.433G>C (p.Glu145Gln)
|
rs1241537285
|
|
|
NM_000455.5(STK11):c.435G>A (p.Glu145=)
|
rs1555737810
|
|
|
NM_000455.5(STK11):c.437A>G (p.Lys146Arg)
|
rs1555737812
|
|
|
NM_000455.5(STK11):c.439C>G (p.Arg147Gly)
|
|
|
|
NM_000455.5(STK11):c.43G>A (p.Gly15Ser)
|
rs1060499970
|
|
|
NM_000455.5(STK11):c.440G>A (p.Arg147His)
|
rs587780717
|
|
|
NM_000455.5(STK11):c.440_441del (p.Arg147fs)
|
rs1555737814
|
|
|
NM_000455.5(STK11):c.442T>A (p.Phe148Ile)
|
rs2145422440
|
|
|
NM_000455.5(STK11):c.443T>C (p.Phe148Ser)
|
rs2080765851
|
|
|
NM_000455.5(STK11):c.443T>G (p.Phe148Cys)
|
rs2080765851
|
|
|
NM_000455.5(STK11):c.444C>G (p.Phe148Leu)
|
|
|
|
NM_000455.5(STK11):c.445C>T (p.Pro149Ser)
|
rs2080765884
|
|
|
NM_000455.5(STK11):c.446C>T (p.Pro149Leu)
|
rs2145422466
|
|
|
NM_000455.5(STK11):c.448G>C (p.Val150Leu)
|
rs1225872771
|
|
|
NM_000455.5(STK11):c.449T>A (p.Val150Glu)
|
rs587781802
|
|
|
NM_000455.5(STK11):c.44G>A (p.Gly15Asp)
|
rs1458974438
|
|
|
NM_000455.5(STK11):c.450G>A (p.Val150=)
|
rs1555737821
|
|
|
NM_000455.5(STK11):c.450G>C (p.Val150=)
|
rs1555737821
|
|
|
NM_000455.5(STK11):c.452G>T (p.Cys151Phe)
|
|
|
|
NM_000455.5(STK11):c.454C>T (p.Gln152Ter)
|
rs2145422504
|
|
|
NM_000455.5(STK11):c.456G>A (p.Gln152=)
|
rs1599925457
|
|
|
NM_000455.5(STK11):c.458C>A (p.Ala153Asp)
|
rs1555737824
|
|
|
NM_000455.5(STK11):c.459C>T (p.Ala153=)
|
rs1191357643
|
|
|
NM_000455.5(STK11):c.45C>G (p.Gly15=)
|
|
|
|
NM_000455.5(STK11):c.460C>G (p.His154Asp)
|
rs878853988
|
|
|
NM_000455.5(STK11):c.460C>T (p.His154Tyr)
|
rs878853988
|
|
|
NM_000455.5(STK11):c.463G>A (p.Gly155Arg)
|
rs763353991
|
|
|
NM_000455.5(STK11):c.463G>C (p.Gly155Arg)
|
rs763353991
|
|
|
NM_000455.5(STK11):c.464+12G>C
|
rs113069959
|
|
|
NM_000455.5(STK11):c.464+13G>A
|
rs587782452
|
|
|
NM_000455.5(STK11):c.464+14G>A
|
rs587782421
|
|
|
NM_000455.5(STK11):c.464+14G>C
|
|
|
|
NM_000455.5(STK11):c.464+15C>A
|
rs1057521355
|
|
|
NM_000455.5(STK11):c.464+15C>T
|
rs1057521355
|
|
|
NM_000455.5(STK11):c.464+16A>G
|
rs2080766391
|
|
|
NM_000455.5(STK11):c.464+16A>T
|
rs2080766391
|
|
|
NM_000455.5(STK11):c.464+18G>C
|
rs587782453
|
|
|
NM_000455.5(STK11):c.464+19G>C
|
rs587782430
|
|
|
NM_000455.5(STK11):c.464+1G>A
|
rs730881971
|
|
|
NM_000455.5(STK11):c.464+1G>T
|
rs730881971
|
|
|
NM_000455.5(STK11):c.464+1dup
|
rs2145422531
|
|
|
NM_000455.5(STK11):c.464+20G>T
|
rs587782369
|
|
|
NM_000455.5(STK11):c.464+20del
|
rs730881960
|
|
|
NM_000455.5(STK11):c.464+20dup
|
|
|
|
NM_000455.5(STK11):c.464+3G>A
|
rs1060499956
|
|
|
NM_000455.5(STK11):c.464+3_464+468del
|
rs2080766077
|
|
|
NM_000455.5(STK11):c.464+4C>A
|
rs373167735
|
|
|
NM_000455.5(STK11):c.464+9G>C
|
rs376313955
|
|
|
NM_000455.5(STK11):c.464G>A (p.Gly155Glu)
|
rs1555737830
|
|
|
NM_000455.5(STK11):c.464G>T (p.Gly155Val)
|
|
|
|
NM_000455.5(STK11):c.465-13G>A
|
|
|
|
NM_000455.5(STK11):c.465-15G>A
|
rs765010137
|
|
|
NM_000455.5(STK11):c.465-16T>C
|
|
|
|
NM_000455.5(STK11):c.465-17GT[2]
|
rs749644491
|
|
|
NM_000455.5(STK11):c.465-19G>C
|
|
|
|
NM_000455.5(STK11):c.465-1G>A
|
rs587776658
|
|
|
NM_000455.5(STK11):c.465-20C>A
|
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
|
NM_000455.5(STK11):c.465-4G>C
|
rs587780009
|
|
|
NM_000455.5(STK11):c.465-4_465-3dup
|
rs2145424092
|
|
|
NM_000455.5(STK11):c.465-5C>G
|
|
|
|
NM_000455.5(STK11):c.465-7C>G
|
rs864622317
|
|
|
NM_000455.5(STK11):c.465G>A (p.Gly155=)
|
|
|
|
NM_000455.5(STK11):c.466_477del (p.Tyr156_Gln159del)
|
rs2145424107
|
|
|
NM_000455.5(STK11):c.467A>G (p.Tyr156Cys)
|
|
|
|
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter)
|
rs786201349
|
|
|
NM_000455.5(STK11):c.468C>T (p.Tyr156=)
|
rs786201349
|
|
|
NM_000455.5(STK11):c.469T>G (p.Phe157Val)
|
|
|
|
NM_000455.5(STK11):c.471_472del (p.Phe157fs)
|
|
|
|
NM_000455.5(STK11):c.472T>C (p.Cys158Arg)
|
rs1431247846
|
|
|
NM_000455.5(STK11):c.472T>G (p.Cys158Gly)
|
|
|
|
NM_000455.5(STK11):c.473G>A (p.Cys158Tyr)
|
rs1568707502
|
|
|
NM_000455.5(STK11):c.475C>T (p.Gln159Ter)
|
|
|
|
NM_000455.5(STK11):c.476A>G (p.Gln159Arg)
|
|
|
|
NM_000455.5(STK11):c.477G>C (p.Gln159His)
|
rs897087953
|
|
|
NM_000455.5(STK11):c.478C>G (p.Leu160Val)
|
|
|
|
NM_000455.5(STK11):c.481A>T (p.Ile161Phe)
|
rs1131690938
|
|
|
NM_000455.5(STK11):c.482T>C (p.Ile161Thr)
|
|
|
|
NM_000455.5(STK11):c.486C>T (p.Asp162=)
|
rs1269329328
|
|
|
NM_000455.5(STK11):c.487_490dup (p.Leu164fs)
|
rs2145424194
|
|
|
NM_000455.5(STK11):c.489C>T (p.Gly163=)
|
rs1060499959
|
|
|
NM_000455.5(STK11):c.490C>T (p.Leu164=)
|
|
|
|
NM_000455.5(STK11):c.492G>A (p.Leu164=)
|
|
|
|
NM_000455.5(STK11):c.494del (p.Glu165fs)
|
|
|
|
NM_000455.5(STK11):c.498C>G (p.Tyr166Ter)
|
rs1555738205
|
|
|
NM_000455.5(STK11):c.4G>C (p.Glu2Gln)
|
rs1599914695
|
|
|
NM_000455.5(STK11):c.504T>A (p.His168Gln)
|
rs754986576
|
|
|
NM_000455.5(STK11):c.504T>C (p.His168=)
|
rs754986576
|
|
|
NM_000455.5(STK11):c.505A>G (p.Ser169Gly)
|
|
|
|
NM_000455.5(STK11):c.506G>A (p.Ser169Asn)
|
rs2080774259
|
|
|
NM_000455.5(STK11):c.507C>T (p.Ser169=)
|
rs1555738210
|
|
|
NM_000455.5(STK11):c.508C>G (p.Gln170Glu)
|
rs121913323
|
|
|
NM_000455.5(STK11):c.508C>T (p.Gln170Ter)
|
rs121913323
|
|
|
NM_000455.5(STK11):c.509A>C (p.Gln170Pro)
|
rs876659972
|
|
|
NM_000455.5(STK11):c.509A>G (p.Gln170Arg)
|
rs876659972
|
|
|
NM_000455.5(STK11):c.50T>C (p.Leu17Pro)
|
rs2080670397
|
|
|
NM_000455.5(STK11):c.511G>A (p.Gly171Ser)
|
rs1599926499
|
|
|
NM_000455.5(STK11):c.513C>T (p.Gly171=)
|
|
|
|
NM_000455.5(STK11):c.516T>C (p.Ile172=)
|
rs1599926504
|
|
|
NM_000455.5(STK11):c.51G>A (p.Leu17=)
|
|
|
|
NM_000455.5(STK11):c.51G>T (p.Leu17=)
|
|
|
|
NM_000455.5(STK11):c.521A>C (p.His174Pro)
|
|
|
|
NM_000455.5(STK11):c.522C>T (p.His174=)
|
rs2080774360
|
|
|
NM_000455.5(STK11):c.523A>G (p.Lys175Glu)
|
rs1450703616
|
|
|
NM_000455.5(STK11):c.524A>G (p.Lys175Arg)
|
rs1599926514
|
|
|
NM_000455.5(STK11):c.525_532dup (p.Lys178fs)
|
rs1555738219
|
|
|
NM_000455.5(STK11):c.526G>A (p.Asp176Asn)
|
rs730881979
|
|
|
NM_000455.5(STK11):c.528C>A (p.Asp176Glu)
|
rs876658393
|
|
|
NM_000455.5(STK11):c.528C>T (p.Asp176=)
|
rs876658393
|
|
|
NM_000455.5(STK11):c.52A>C (p.Met18Leu)
|
rs587782318
|
|
|
NM_000455.5(STK11):c.530T>A (p.Ile177Asn)
|
rs1057520041
|
|
|
NM_000455.5(STK11):c.531C>T (p.Ile177=)
|
rs1264449076
|
|
|
NM_000455.5(STK11):c.534G>A (p.Lys178=)
|
rs560461444
|
|
|
NM_000455.5(STK11):c.536C>G (p.Pro179Arg)
|
|
|
|
NM_000455.5(STK11):c.536C>T (p.Pro179Leu)
|
rs786202466
|
|
|
NM_000455.5(STK11):c.537G>A (p.Pro179=)
|
rs528535500
|
|
|
NM_000455.5(STK11):c.537G>C (p.Pro179=)
|
|
|
|
NM_000455.5(STK11):c.537G>T (p.Pro179=)
|
rs528535500
|
|
|
NM_000455.5(STK11):c.53T>C (p.Met18Thr)
|
rs1555734894
|
|
|
NM_000455.5(STK11):c.540G>A (p.Gly180=)
|
rs2145424429
|
|
|
NM_000455.5(STK11):c.540del (p.Asn181fs)
|
rs1131690939
|
|
|
NM_000455.5(STK11):c.540dup (p.Asn181fs)
|
rs1131690939
|
|
|
NM_000455.5(STK11):c.541A>G (p.Asn181Asp)
|
rs886037926
|
|
|
NM_000455.5(STK11):c.541_543delinsGAA (p.Asn181Glu)
|
rs1568707668
|
|
|
NM_000455.5(STK11):c.542A>G (p.Asn181Ser)
|
rs886037859
|
|
|
NM_000455.5(STK11):c.543C>G (p.Asn181Lys)
|
rs730881973
|
|
|
NM_000455.5(STK11):c.544C>T (p.Leu182=)
|
rs1057522875
|
|
|
NM_000455.5(STK11):c.546G>A (p.Leu182=)
|
rs2145424468
|
|
|
NM_000455.5(STK11):c.549G>A (p.Leu183=)
|
|
|
|
NM_000455.5(STK11):c.54G>A (p.Met18Ile)
|
rs755436889
|
|
|
NM_000455.5(STK11):c.54G>T (p.Met18Ile)
|
rs755436889
|
|
|
NM_000455.5(STK11):c.550C>A (p.Leu184Ile)
|
rs1185119025
|
|
|
NM_000455.5(STK11):c.551T>C (p.Leu184Pro)
|
rs2080774695
|
|
|
NM_000455.5(STK11):c.552C>G (p.Leu184=)
|
rs587780719
|
|
|
NM_000455.5(STK11):c.554C>T (p.Thr185Ile)
|
rs540627331
|
|
|
NM_000455.5(STK11):c.555C>T (p.Thr185=)
|
rs1060503781
|
|
|
NM_000455.5(STK11):c.556A>G (p.Thr186Ala)
|
|
|
|
NM_000455.5(STK11):c.557C>T (p.Thr186Ile)
|
|
|
|
NM_000455.5(STK11):c.558C>A (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.558C>G (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.558C>T (p.Thr186=)
|
rs749563734
|
|
|
NM_000455.5(STK11):c.559G>C (p.Gly187Arg)
|
rs587782032
|
|
|
NM_000455.5(STK11):c.559G>T (p.Gly187Cys)
|
rs587782032
|
|
|
NM_000455.5(STK11):c.561T>C (p.Gly187=)
|
rs2145424546
|
|
|
NM_000455.5(STK11):c.563G>A (p.Gly188Asp)
|
|
|
|
NM_000455.5(STK11):c.564C>T (p.Gly188=)
|
rs786201344
|
|
|
NM_000455.5(STK11):c.566C>G (p.Thr189Ser)
|
rs587781515
|
|
|
NM_000455.5(STK11):c.567C>T (p.Thr189=)
|
rs2145424574
|
|
|
NM_000455.5(STK11):c.56C>T (p.Ser19Leu)
|
rs1426026332
|
|
|
NM_000455.5(STK11):c.570C>G (p.Leu190=)
|
rs937650956
|
|
|
NM_000455.5(STK11):c.570C>T (p.Leu190=)
|
rs937650956
|
|
|
NM_000455.5(STK11):c.573A>C (p.Lys191Asn)
|
|
|
|
NM_000455.5(STK11):c.576C>G (p.Ile192Met)
|
rs878853991
|
|
|
NM_000455.5(STK11):c.579C>A (p.Ser193=)
|
rs730881961
|
|
|
NM_000455.5(STK11):c.579C>G (p.Ser193=)
|
rs730881961
|
|
|
NM_000455.5(STK11):c.57G>A (p.Ser19=)
|
rs748698151
|
|
|
NM_000455.5(STK11):c.57G>T (p.Ser19=)
|
rs748698151
|
|
|
NM_000455.5(STK11):c.580G>A (p.Asp194Asn)
|
rs121913315
|
|
|
NM_000455.5(STK11):c.580G>C (p.Asp194His)
|
rs121913315
|
|
|
NM_000455.5(STK11):c.582C>A (p.Asp194Glu)
|
rs786202134
|
|
|
NM_000455.5(STK11):c.582C>T (p.Asp194=)
|
|
|
|
NM_000455.5(STK11):c.582_596del (p.Asp194_Ala198del)
|
rs2145424620
|
|
|
NM_000455.5(STK11):c.583C>T (p.Leu195=)
|
rs1555738276
|
|
|
NM_000455.5(STK11):c.583del (p.Leu195fs)
|
rs2145424635
|
|
|
NM_000455.5(STK11):c.585G>A (p.Leu195=)
|
rs2080775062
|
|
|
NM_000455.5(STK11):c.587G>A (p.Gly196Asp)
|
|
|
|
NM_000455.5(STK11):c.587G>C (p.Gly196Ala)
|
rs1057519858
|
|
|
NM_000455.5(STK11):c.589_597+6del
|
rs2145424662
|
|
|
NM_000455.5(STK11):c.58G>A (p.Val20Met)
|
rs1555734898
|
|
|
NM_000455.5(STK11):c.58G>T (p.Val20Leu)
|
rs1555734898
|
|
|
NM_000455.5(STK11):c.595G>A (p.Glu199Lys)
|
rs121913317
|
|
|
NM_000455.5(STK11):c.597+12C>T
|
|
|
|
NM_000455.5(STK11):c.597+13T>G
|
|
|
|
NM_000455.5(STK11):c.597+14A>T
|
|
|
|
NM_000455.5(STK11):c.597+15G>C
|
rs774187994
|
|
|
NM_000455.5(STK11):c.597+15G>T
|
rs774187994
|
|
|
NM_000455.5(STK11):c.597+16G>C
|
|
|
|
NM_000455.5(STK11):c.597+16_597+17insTA
|
|
|
|
NM_000455.5(STK11):c.597+17G>T
|
|
|
|
NM_000455.5(STK11):c.597+19G>A
|
rs2145424803
|
|
|
NM_000455.5(STK11):c.597+1G>T
|
rs886039554
|
|
|
NM_000455.5(STK11):c.597+20G>C
|
|
|
|
NM_000455.5(STK11):c.597+20G>T
|
|
|
|
NM_000455.5(STK11):c.597+20_597+21dup
|
rs534445875
|
|
|
NM_000455.5(STK11):c.597+21del
|
rs534445875
|
|
|
NM_000455.5(STK11):c.597+21dup
|
rs534445875
|
|
|
NM_000455.5(STK11):c.597+2T>A
|
rs2145424716
|
|
|
NM_000455.5(STK11):c.597+4G>C
|
|
|
|
NM_000455.5(STK11):c.597+7A>G
|
|
|
|
NM_000455.5(STK11):c.597+8C>A
|
rs565387911
|
|
|
NM_000455.5(STK11):c.597+9G>C
|
rs863224361
|
|
|
NM_000455.5(STK11):c.597+9G>T
|
rs863224361
|
|
|
NM_000455.5(STK11):c.598-11C>T
|
rs587782431
|
|
|
NM_000455.5(STK11):c.598-12G>A
|
rs587781578
|
|
|
NM_000455.5(STK11):c.598-12G>C
|
|
|
|
NM_000455.5(STK11):c.598-12_598-11dup
|
|
|
|
NM_000455.5(STK11):c.598-13_598-9del
|
rs2145424937
|
|
|
NM_000455.5(STK11):c.598-16C>T
|
|
|
|
NM_000455.5(STK11):c.598-1G>A
|
rs1555738319
|
|
|
NM_000455.5(STK11):c.598-2A>C
|
rs1131690934
|
|
|
NM_000455.5(STK11):c.598-2A>G
|
rs1131690934
|
|
|
NM_000455.5(STK11):c.598-3C>T
|
rs2080775782
|
|
|
NM_000455.5(STK11):c.598-4A>G
|
rs1599926747
|
|
|
NM_000455.5(STK11):c.598-6C>T
|
|
|
|
NM_000455.5(STK11):c.598-9C>T
|
rs2080775710
|
|
|
NM_000455.5(STK11):c.598G>A (p.Ala200Thr)
|
rs1568707988
|
|
|
NM_000455.5(STK11):c.599C>T (p.Ala200Val)
|
|
|
|
NM_000455.5(STK11):c.5A>G (p.Glu2Gly)
|
|
|
|
NM_000455.5(STK11):c.602_606del (p.Leu201fs)
|
|
|
|
NM_000455.5(STK11):c.604C>T (p.His202Tyr)
|
rs730881980
|
|
|
NM_000455.5(STK11):c.606C>A (p.His202Gln)
|
|
|
|
NM_000455.5(STK11):c.606C>G (p.His202Gln)
|
rs2080775908
|
|
|
NM_000455.5(STK11):c.606C>T (p.His202=)
|
|
|
|
NM_000455.5(STK11):c.607C>G (p.Pro203Ala)
|
rs2080775942
|
|
|
NM_000455.5(STK11):c.607C>T (p.Pro203Ser)
|
rs2080775942
|
|
|
NM_000455.5(STK11):c.608C>G (p.Pro203Arg)
|
rs587782379
|
|
|
NM_000455.5(STK11):c.608_627del (p.Pro203fs)
|
rs2145425021
|
|
|
NM_000455.5(STK11):c.609G>C (p.Pro203=)
|
rs786201228
|
|
|
NM_000455.5(STK11):c.609G>T (p.Pro203=)
|
rs786201228
|
|
|
NM_000455.5(STK11):c.60_61delinsTT (p.Gly21Cys)
|
rs2080670569
|
|
|
NM_000455.5(STK11):c.612C>A (p.Phe204Leu)
|
rs774100153
|
|
|
NM_000455.5(STK11):c.612C>G (p.Phe204Leu)
|
rs774100153
|
|
|
NM_000455.5(STK11):c.613G>C (p.Ala205Pro)
|
rs730881981
|
|
|
NM_000455.5(STK11):c.613G>T (p.Ala205Ser)
|
rs730881981
|
|
|
NM_000455.5(STK11):c.614_618del (p.Ala205fs)
|
rs2080776017
|
|
|
NM_000455.5(STK11):c.616G>A (p.Ala206Thr)
|
rs1555738357
|
|
|
NM_000455.5(STK11):c.617C>G (p.Ala206Gly)
|
rs764244639
|
|
|
NM_000455.5(STK11):c.617C>T (p.Ala206Val)
|
rs764244639
|
|
|
NM_000455.5(STK11):c.618G>C (p.Ala206=)
|
rs370976710
|
|
|
NM_000455.5(STK11):c.618G>T (p.Ala206=)
|
rs370976710
|
|
|
NM_000455.5(STK11):c.61G>T (p.Gly21Cys)
|
rs1064793751
|
|
|
NM_000455.5(STK11):c.620A>G (p.Asp207Gly)
|
rs1555738370
|
|
|
NM_000455.5(STK11):c.620A>T (p.Asp207Val)
|
|
|
|
NM_000455.5(STK11):c.621C>G (p.Asp207Glu)
|
rs569380138
|
|
|
NM_000455.5(STK11):c.622G>A (p.Asp208Asn)
|
rs1555738372
|
|
|
NM_000455.5(STK11):c.625A>C (p.Thr209Pro)
|
rs1555738373
|
|
|
NM_000455.5(STK11):c.625A>G (p.Thr209Ala)
|
rs1555738373
|
|
|
NM_000455.5(STK11):c.626C>G (p.Thr209Ser)
|
rs876660473
|
|
|
NM_000455.5(STK11):c.626C>T (p.Thr209Ile)
|
|
|
|
NM_000455.5(STK11):c.627C>A (p.Thr209=)
|
rs786201509
|
|
|
NM_000455.5(STK11):c.627C>T (p.Thr209=)
|
rs786201509
|
|
|
NM_000455.5(STK11):c.628T>G (p.Cys210Gly)
|
|
|
|
NM_000455.5(STK11):c.629G>T (p.Cys210Phe)
|
rs1568708105
|
|
|
NM_000455.5(STK11):c.62dup (p.Met22fs)
|
|
|
|
NM_000455.5(STK11):c.630C>A (p.Cys210Ter)
|
rs786201213
|
|
|
NM_000455.5(STK11):c.630C>T (p.Cys210=)
|
rs786201213
|
|
|
NM_000455.5(STK11):c.631C>A (p.Arg211=)
|
rs185087320
|
|
|
NM_000455.5(STK11):c.631C>G (p.Arg211Gly)
|
rs185087320
|
|
|
NM_000455.5(STK11):c.632G>C (p.Arg211Pro)
|
|
|
|
NM_000455.5(STK11):c.633G>A (p.Arg211=)
|
|
|
|
NM_000455.5(STK11):c.634A>C (p.Thr212Pro)
|
|
|
|
NM_000455.5(STK11):c.634A>G (p.Thr212Ala)
|
rs1300171938
|
|
|
NM_000455.5(STK11):c.635C>A (p.Thr212Asn)
|
|
|
|
NM_000455.5(STK11):c.635C>T (p.Thr212Ile)
|
rs1555738389
|
|
|
NM_000455.5(STK11):c.637A>G (p.Ser213Gly)
|
rs1599926852
|
|
|
NM_000455.5(STK11):c.639C>T (p.Ser213=)
|
rs1555738391
|
|
|
NM_000455.5(STK11):c.640C>T (p.Gln214Ter)
|
rs1131690923
|
|
|
NM_000455.5(STK11):c.640_653del (p.Gln214fs)
|
rs2145425162
|
|
|
NM_000455.5(STK11):c.644G>A (p.Gly215Asp)
|
rs1057520038
|
|
|
NM_000455.5(STK11):c.644G>T (p.Gly215Val)
|
|
|
|
NM_000455.5(STK11):c.645C>G (p.Gly215=)
|
rs1599926859
|
|
|
NM_000455.5(STK11):c.645C>T (p.Gly215=)
|
rs1599926859
|
|
|
NM_000455.5(STK11):c.646dup (p.Ser216fs)
|
|
|
|
NM_000455.5(STK11):c.647C>T (p.Ser216Phe)
|
rs1057520017
|
|
|
NM_000455.5(STK11):c.648C>A (p.Ser216=)
|
|
|
|
NM_000455.5(STK11):c.64A>G (p.Met22Val)
|
rs1174992777
|
|
|
NM_000455.5(STK11):c.650C>T (p.Pro217Leu)
|
rs587782146
|
|
|
NM_000455.5(STK11):c.650del (p.Pro217fs)
|
rs397518442
|
|
|
NM_000455.5(STK11):c.651G>C (p.Pro217=)
|
rs368348370
|
|
|
NM_000455.5(STK11):c.652G>A (p.Ala218Thr)
|
rs1064794015
|
|
|
NM_000455.5(STK11):c.654T>A (p.Ala218=)
|
rs2145425219
|
|
|
NM_000455.5(STK11):c.658C>T (p.Gln220Ter)
|
rs1131690940
|
|
|
NM_000455.5(STK11):c.659A>G (p.Gln220Arg)
|
rs1568708204
|
|
|
NM_000455.5(STK11):c.661C>T (p.Pro221Ser)
|
rs587782546
|
|
|
NM_000455.5(STK11):c.663G>A (p.Pro221=)
|
rs587780720
|
|
|
NM_000455.5(STK11):c.666C>G (p.Pro222=)
|
rs542189325
|
|
|
NM_000455.5(STK11):c.667G>A (p.Glu223Lys)
|
rs1060499964
|
|
|
NM_000455.5(STK11):c.668A>G (p.Glu223Gly)
|
rs2080776621
|
|
|
NM_000455.5(STK11):c.669_670del (p.Glu223fs)
|
rs2145425286
|
|
|
NM_000455.5(STK11):c.66G>A (p.Met22Ile)
|
rs1599914859
|
|
|
NM_000455.5(STK11):c.670A>G (p.Ile224Val)
|
|
|
|
NM_000455.5(STK11):c.671_920+333del
|
|
|
|
NM_000455.5(STK11):c.672T>A (p.Ile224=)
|
rs1230000936
|
|
|
NM_000455.5(STK11):c.673G>A (p.Ala225Thr)
|
rs2080776680
|
|
|
NM_000455.5(STK11):c.674C>T (p.Ala225Val)
|
rs1060499966
|
|
|
NM_000455.5(STK11):c.675C>G (p.Ala225=)
|
rs1599926917
|
|
|
NM_000455.5(STK11):c.675C>T (p.Ala225=)
|
rs1599926917
|
|
|
NM_000455.5(STK11):c.677A>G (p.Asn226Ser)
|
|
|
|
NM_000455.5(STK11):c.678C>A (p.Asn226Lys)
|
rs748832988
|
|
|
NM_000455.5(STK11):c.679G>A (p.Gly227Ser)
|
rs1599926923
|
|
|
NM_000455.5(STK11):c.67G>A (p.Asp23Asn)
|
rs2080670686
|
|
|
NM_000455.5(STK11):c.67G>C (p.Asp23His)
|
rs2080670686
|
|
|
NM_000455.5(STK11):c.680G>A (p.Gly227Asp)
|
|
|
|
NM_000455.5(STK11):c.682C>A (p.Leu228Met)
|
|
|
|
NM_000455.5(STK11):c.682C>T (p.Leu228=)
|
rs1599926930
|
|
|
NM_000455.5(STK11):c.684G>A (p.Leu228=)
|
rs1599926937
|
|
|
NM_000455.5(STK11):c.687C>T (p.Asp229=)
|
rs770545562
|
|
|
NM_000455.5(STK11):c.689C>G (p.Thr230Ser)
|
|
|
|
NM_000455.5(STK11):c.689C>T (p.Thr230Ile)
|
rs1555738440
|
|
|
NM_000455.5(STK11):c.692_694del (p.Phe231del)
|
|
|
|
NM_000455.5(STK11):c.693C>T (p.Phe231=)
|
rs1568708275
|
|
|
NM_000455.5(STK11):c.694_695del (p.Ser232fs)
|
rs2080776848
|
|
|
NM_000455.5(STK11):c.695C>T (p.Ser232Phe)
|
|
|
|
NM_000455.5(STK11):c.697G>A (p.Gly233Ser)
|
rs587781638
|
|
|
NM_000455.5(STK11):c.697G>C (p.Gly233Arg)
|
rs587781638
|
|
|
NM_000455.5(STK11):c.699C>G (p.Gly233=)
|
rs1490687998
|
|
|
NM_000455.5(STK11):c.69C>A (p.Asp23Glu)
|
rs1599914867
|
|
|
NM_000455.5(STK11):c.69C>G (p.Asp23Glu)
|
rs1599914867
|
|
|
NM_000455.5(STK11):c.69C>T (p.Asp23=)
|
rs1599914867
|
|
|
NM_000455.5(STK11):c.69del (p.Asp23fs)
|
rs2080670725
|
|
|
NM_000455.5(STK11):c.702C>T (p.Phe234=)
|
rs1555738452
|
|
|
NM_000455.5(STK11):c.704A>C (p.Lys235Thr)
|
rs587780010
|
|
|
NM_000455.5(STK11):c.708G>T (p.Val236=)
|
rs786201653
|
|
|
NM_000455.5(STK11):c.709G>A (p.Asp237Asn)
|
rs878853247
|
|
|
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr)
|
rs878853247
|
|
|
NM_000455.5(STK11):c.70A>G (p.Thr24Ala)
|
rs2145404724
|
|
|
NM_000455.5(STK11):c.710A>C (p.Asp237Ala)
|
|
|
|
NM_000455.5(STK11):c.711C>G (p.Asp237Glu)
|
rs1057520379
|
|
|
NM_000455.5(STK11):c.714C>T (p.Ile238=)
|
rs1599926980
|
|
|
NM_000455.5(STK11):c.715_719dup (p.Ala241fs)
|
|
|
|
NM_000455.5(STK11):c.717G>A (p.Trp239Ter)
|
rs137853082
|
|
|
NM_000455.5(STK11):c.717G>C (p.Trp239Cys)
|
rs137853082
|
|
|
NM_000455.5(STK11):c.717del (p.Trp239fs)
|
|
|
|
NM_000455.5(STK11):c.718_721del (p.Ser240fs)
|
rs587776657
|
|
|
NM_000455.5(STK11):c.719C>A (p.Ser240Ter)
|
rs730881976
|
|
|
NM_000455.5(STK11):c.719C>G (p.Ser240Trp)
|
rs730881976
|
|
|
NM_000455.5(STK11):c.719C>T (p.Ser240Leu)
|
rs730881976
|
|
|
NM_000455.5(STK11):c.71C>G (p.Thr24Arg)
|
rs770503805
|
|
|
NM_000455.5(STK11):c.720G>T (p.Ser240=)
|
rs759743897
|
|
|
NM_000455.5(STK11):c.721G>A (p.Ala241Thr)
|
rs587780721
|
|
|
NM_000455.5(STK11):c.721G>T (p.Ala241Ser)
|
rs587780721
|
|
|
NM_000455.5(STK11):c.722C>T (p.Ala241Val)
|
rs2080777192
|
|
|
NM_000455.5(STK11):c.724G>A (p.Gly242Arg)
|
rs878853992
|
|
|
NM_000455.5(STK11):c.724G>T (p.Gly242Trp)
|
rs878853992
|
|
|
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)
|
rs1568708382
|
|
|
NM_000455.5(STK11):c.725G>T (p.Gly242Val)
|
rs1568708382
|
|
|
NM_000455.5(STK11):c.726G>A (p.Gly242=)
|
rs776823114
|
|
|
NM_000455.5(STK11):c.726G>T (p.Gly242=)
|
rs776823114
|
|
|
NM_000455.5(STK11):c.727del (p.Val243fs)
|
rs1555738475
|
|
|
NM_000455.5(STK11):c.729C>A (p.Val243=)
|
rs2145425531
|
|
|
NM_000455.5(STK11):c.729C>T (p.Val243=)
|
|
|
|
NM_000455.5(STK11):c.72G>A (p.Thr24=)
|
rs2145404738
|
|
|
NM_000455.5(STK11):c.72G>T (p.Thr24=)
|
|
|
|
NM_000455.5(STK11):c.730A>C (p.Thr244Pro)
|
rs1568708396
|
|
|
NM_000455.5(STK11):c.731C>A (p.Thr244Asn)
|
rs1555738476
|
|
|
NM_000455.5(STK11):c.732C>T (p.Thr244=)
|
rs1461624637
|
|
|
NM_000455.5(STK11):c.734+11del
|
rs762277866
|
|
|
NM_000455.5(STK11):c.734+12G>A
|
rs876661094
|
|
|
NM_000455.5(STK11):c.734+12G>C
|
|
|
|
NM_000455.5(STK11):c.734+12_734+17dup
|
|
|
|
NM_000455.5(STK11):c.734+13C>A
|
rs2080777425
|
|
|
NM_000455.5(STK11):c.734+13C>G
|
rs2080777425
|
|
|
NM_000455.5(STK11):c.734+13C>T
|
|
|
|
NM_000455.5(STK11):c.734+14C>A
|
rs763346212
|
|
|
NM_000455.5(STK11):c.734+14C>T
|
rs763346212
|
|
|
NM_000455.5(STK11):c.734+15C>T
|
|
|
|
NM_000455.5(STK11):c.734+16C>T
|
|
|
|
NM_000455.5(STK11):c.734+17C>A
|
rs751929304
|
|
|
NM_000455.5(STK11):c.734+17C>T
|
rs751929304
|
|
|
NM_000455.5(STK11):c.734+19del
|
rs730881962
|
|
|
NM_000455.5(STK11):c.734+19dup
|
rs730881962
|
|
|
NM_000455.5(STK11):c.734+1G>A
|
rs587782018
|
|
|
NM_000455.5(STK11):c.734+1G>T
|
rs587782018
|
|
|
NM_000455.5(STK11):c.734+20G>C
|
rs375315233
|
|
|
NM_000455.5(STK11):c.734+20G>T
|
|
|
|
NM_000455.5(STK11):c.734+22del
|
rs1555738486
|
|
|
NM_000455.5(STK11):c.734+22dup
|
|
|
|
NM_000455.5(STK11):c.734+3A>G
|
rs2145425563
|
|
|
NM_000455.5(STK11):c.734+5G>A
|
|
|
|
NM_000455.5(STK11):c.734+8C>A
|
rs561655034
|
|
|
NM_000455.5(STK11):c.734+8C>T
|
rs561655034
|
|
|
NM_000455.5(STK11):c.735-10C>A
|
|
|
|
NM_000455.5(STK11):c.735-10C>G
|
|
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
|
|
NM_000455.5(STK11):c.735-12C>G
|
rs764712846
|
|
|
NM_000455.5(STK11):c.735-12C>T
|
rs764712846
|
|
|
NM_000455.5(STK11):c.735-13C>G
|
|
|
|
NM_000455.5(STK11):c.735-13C>T
|
rs1180463550
|
|
|
NM_000455.5(STK11):c.735-14C>T
|
rs375598147
|
|
|
NM_000455.5(STK11):c.735-15C>T
|
rs1217952204
|
|
|
NM_000455.5(STK11):c.735-16T>A
|
|
|
|
NM_000455.5(STK11):c.735-16T>G
|
|
|
|
NM_000455.5(STK11):c.735-16_735-15del
|
rs775965325
|
|
|
NM_000455.5(STK11):c.735-17C>T
|
rs1057520874
|
|
|
NM_000455.5(STK11):c.735-18C>T
|
rs1064795971
|
|
|
NM_000455.5(STK11):c.735-19C>T
|
rs1057517576
|
|
|
NM_000455.5(STK11):c.735-1G>A
|
rs1057517830
|
|
|
NM_000455.5(STK11):c.735-21_735-11del
|
|
|
|
NM_000455.5(STK11):c.735-3A>G
|
rs864622128
|
|
|
NM_000455.5(STK11):c.735-4G>A
|
rs1245235285
|
|
|
NM_000455.5(STK11):c.735-6A>G
|
rs2145426686
|
|
|
NM_000455.5(STK11):c.735-6_735-2del
|
rs759090799
|
|
|
NM_000455.5(STK11):c.735C>T (p.Leu245=)
|
rs773147894
|
|
|
NM_000455.5(STK11):c.737A>C (p.Tyr246Ser)
|
rs1568709113
|
|
|
NM_000455.5(STK11):c.737A>G (p.Tyr246Cys)
|
rs1568709113
|
|
|
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
|
|
|
|
NM_000455.5(STK11):c.738C>G (p.Tyr246Ter)
|
rs137853083
|
|
|
NM_000455.5(STK11):c.738C>T (p.Tyr246=)
|
rs137853083
|
|
|
NM_000455.5(STK11):c.740A>G (p.Asn247Ser)
|
rs1555738612
|
|
|
NM_000455.5(STK11):c.740A>T (p.Asn247Ile)
|
rs1555738612
|
|
|
NM_000455.5(STK11):c.743T>C (p.Ile248Thr)
|
rs1599927536
|
|
|
NM_000455.5(STK11):c.744C>T (p.Ile248=)
|
rs2145426750
|
|
|
NM_000455.5(STK11):c.746C>T (p.Thr249Ile)
|
rs886054218
|
|
|
NM_000455.5(STK11):c.747C>T (p.Thr249=)
|
rs759546076
|
|
|
NM_000455.5(STK11):c.748A>G (p.Thr250Ala)
|
rs1568709142
|
|
|
NM_000455.5(STK11):c.748del (p.Thr250fs)
|
|
|
|
NM_000455.5(STK11):c.749C>T (p.Thr250Met)
|
rs876661238
|
|
|
NM_000455.5(STK11):c.752G>A (p.Gly251Asp)
|
rs730881977
|
|
|
NM_000455.5(STK11):c.752G>T (p.Gly251Val)
|
|
|
|
NM_000455.5(STK11):c.754C>A (p.Leu252Met)
|
rs1363669559
|
|
|
NM_000455.5(STK11):c.754C>T (p.Leu252=)
|
rs1363669559
|
|
|
NM_000455.5(STK11):c.755_758dup (p.Pro254fs)
|
rs1599927564
|
|
|
NM_000455.5(STK11):c.756G>A (p.Leu252=)
|
rs786201544
|
|
|
NM_000455.5(STK11):c.756G>C (p.Leu252=)
|
rs786201544
|
|
|
NM_000455.5(STK11):c.758A>G (p.Tyr253Cys)
|
|
|
|
NM_000455.5(STK11):c.759C>A (p.Tyr253Ter)
|
rs137853075
|
|
|
NM_000455.5(STK11):c.759C>T (p.Tyr253=)
|
rs137853075
|
|
|
NM_000455.5(STK11):c.75C>T (p.Phe25=)
|
rs1466484547
|
|
|
NM_000455.5(STK11):c.761C>G (p.Pro254Arg)
|
rs1555738621
|
|
|
NM_000455.5(STK11):c.762C>G (p.Pro254=)
|
rs1555738623
|
|
|
NM_000455.5(STK11):c.762C>T (p.Pro254=)
|
rs1555738623
|
|
|
NM_000455.5(STK11):c.762dup (p.Phe255fs)
|
rs1599927573
|
|
|
NM_000455.5(STK11):c.766G>A (p.Glu256Lys)
|
rs1057520606
|
|
|
NM_000455.5(STK11):c.766G>C (p.Glu256Gln)
|
|
|
|
NM_000455.5(STK11):c.766G>T (p.Glu256Ter)
|
rs1057520606
|
|
|
NM_000455.5(STK11):c.76A>G (p.Ile26Val)
|
rs1555734913
|
|
|
NM_000455.5(STK11):c.770G>C (p.Gly257Ala)
|
rs1555738634
|
|
|
NM_000455.5(STK11):c.772del (p.Asp258fs)
|
rs1599927589
|
|
|
NM_000455.5(STK11):c.774C>A (p.Asp258Glu)
|
rs2080781876
|
|
|
NM_000455.5(STK11):c.775A>G (p.Asn259Asp)
|
rs2080781890
|
|
|
NM_000455.5(STK11):c.777C>T (p.Asn259=)
|
rs786201105
|
|
|
NM_000455.5(STK11):c.778A>G (p.Ile260Val)
|
|
|
|
NM_000455.5(STK11):c.780C>T (p.Ile260=)
|
rs876658493
|
|
|
NM_000455.5(STK11):c.783C>T (p.Tyr261=)
|
rs1555738647
|
|
|
NM_000455.5(STK11):c.784A>C (p.Lys262Gln)
|
|
|
|
NM_000455.5(STK11):c.785A>G (p.Lys262Arg)
|
rs1568709214
|
|
|
NM_000455.5(STK11):c.786G>A (p.Lys262=)
|
|
|
|
NM_000455.5(STK11):c.788T>A (p.Leu263Ter)
|
rs1226608647
|
|
|
NM_000455.5(STK11):c.789G>A (p.Leu263=)
|
rs1555738654
|
|
|
NM_000455.5(STK11):c.78C>A (p.Ile26=)
|
|
|
|
NM_000455.5(STK11):c.78C>T (p.Ile26=)
|
|
|
|
NM_000455.5(STK11):c.790_793del (p.Phe264fs)
|
rs121913320
|
|
|
NM_000455.5(STK11):c.791T>A (p.Phe264Tyr)
|
rs876658978
|
|
|
NM_000455.5(STK11):c.792T>C (p.Phe264=)
|
rs1599927625
|
|
|
NM_000455.5(STK11):c.792_793insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCACAGTGCTGTGATTACAGGCGTGAGCCACCGCGCCCGGCCTACAAGTTGTTT (p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer)
|
rs2145426910
|
|
|
NM_000455.5(STK11):c.793dup (p.Glu265fs)
|
rs2080782095
|
|
|
NM_000455.5(STK11):c.795G>C (p.Glu265Asp)
|
rs730881963
|
|
|
NM_000455.5(STK11):c.795_796dup (p.Asn266fs)
|
rs1555738656
|
|
|
NM_000455.5(STK11):c.796A>G (p.Asn266Asp)
|
|
|
|
NM_000455.5(STK11):c.799A>G (p.Ile267Val)
|
rs1568709259
|
|
|
NM_000455.5(STK11):c.7G>A (p.Val3Met)
|
rs906049559
|
|
|
NM_000455.5(STK11):c.7G>C (p.Val3Leu)
|
rs906049559
|
|
|
NM_000455.5(STK11):c.802G>A (p.Gly268Arg)
|
rs2080782189
|
|
|
NM_000455.5(STK11):c.804G>A (p.Gly268=)
|
|
|
|
NM_000455.5(STK11):c.804G>C (p.Gly268=)
|
rs2145427038
|
|
|
NM_000455.5(STK11):c.804G>T (p.Gly268=)
|
|
|
|
NM_000455.5(STK11):c.807G>A (p.Lys269=)
|
rs1057523146
|
|
|
NM_000455.5(STK11):c.807G>T (p.Lys269Asn)
|
rs1057523146
|
|
|
NM_000455.5(STK11):c.810G>A (p.Gly270=)
|
rs1297520176
|
|
|
NM_000455.5(STK11):c.811_812del (p.Ser271fs)
|
|
|
|
NM_000455.5(STK11):c.812G>A (p.Ser271Asn)
|
rs1599927654
|
|
|
NM_000455.5(STK11):c.813C>T (p.Ser271=)
|
rs2080782265
|
|
|
NM_000455.5(STK11):c.815A>G (p.Tyr272Cys)
|
rs2145427080
|
|
|
NM_000455.5(STK11):c.815dup (p.Tyr272Ter)
|
|
|
|
NM_000455.5(STK11):c.816del (p.Ser271_Tyr272insTer)
|
rs1555738667
|
|
|
NM_000455.5(STK11):c.819C>T (p.Ala273=)
|
rs1555738679
|
|
|
NM_000455.5(STK11):c.81C>T (p.His27=)
|
rs2080670824
|
|
|
NM_000455.5(STK11):c.820A>C (p.Ile274Leu)
|
rs1599927666
|
|
|
NM_000455.5(STK11):c.823C>T (p.Pro275Ser)
|
rs2145427115
|
|
|
NM_000455.5(STK11):c.824C>T (p.Pro275Leu)
|
rs1555738685
|
|
|
NM_000455.5(STK11):c.825G>T (p.Pro275=)
|
rs202011521
|
|
|
NM_000455.5(STK11):c.826G>A (p.Gly276Ser)
|
rs1461580063
|
|
|
NM_000455.5(STK11):c.827G>A (p.Gly276Asp)
|
rs749927908
|
|
|
NM_000455.5(STK11):c.828C>A (p.Gly276=)
|
rs200824447
|
|
|
NM_000455.5(STK11):c.829G>A (p.Asp277Asn)
|
rs1555738692
|
|
|
NM_000455.5(STK11):c.829G>C (p.Asp277His)
|
rs1555738692
|
|
|
NM_000455.5(STK11):c.829G>T (p.Asp277Tyr)
|
rs1555738692
|
|
|
NM_000455.5(STK11):c.82dup (p.Arg28fs)
|
rs1568689930
|
|
|
NM_000455.5(STK11):c.831C>A (p.Asp277Glu)
|
rs1555738693
|
|
|
NM_000455.5(STK11):c.833G>A (p.Cys278Tyr)
|
rs2080782575
|
|
|
NM_000455.5(STK11):c.834T>C (p.Cys278=)
|
rs1599927695
|
|
|
NM_000455.5(STK11):c.834_835del (p.Cys278fs)
|
rs587776659
|
|
|
NM_000455.5(STK11):c.834_858del (p.Asp277_Cys278insTer)
|
|
|
|
NM_000455.5(STK11):c.836_837delinsCT (p.Gly279Ala)
|
rs1057517603
|
|
|
NM_000455.5(STK11):c.837C>A (p.Gly279=)
|
rs373021819
|
|
|
NM_000455.5(STK11):c.837C>G (p.Gly279=)
|
rs373021819
|
|
|
NM_000455.5(STK11):c.838C>A (p.Pro280Thr)
|
|
|
|
NM_000455.5(STK11):c.838C>G (p.Pro280Ala)
|
rs1555738708
|
|
|
NM_000455.5(STK11):c.838C>T (p.Pro280Ser)
|
rs1555738708
|
|
|
NM_000455.5(STK11):c.838_839delinsGT (p.Pro280Val)
|
rs786205863
|
|
|
NM_000455.5(STK11):c.83G>A (p.Arg28His)
|
rs1331020864
|
|
|
NM_000455.5(STK11):c.840C>A (p.Pro280=)
|
rs1471868090
|
|
|
NM_000455.5(STK11):c.840C>T (p.Pro280=)
|
rs1471868090
|
|
|
NM_000455.5(STK11):c.841C>T (p.Pro281Ser)
|
rs377208033
|
|
|
NM_000455.5(STK11):c.841_842dup (p.Leu282fs)
|
rs121913321
|
|
|
NM_000455.5(STK11):c.842C>A (p.Pro281Gln)
|
rs121913322
|
|
|
NM_000455.5(STK11):c.842C>G (p.Pro281Arg)
|
rs121913322
|
|
|
NM_000455.5(STK11):c.842del (p.Pro281fs)
|
rs121913321
|
|
|
NM_000455.5(STK11):c.842dup (p.Leu282fs)
|
rs121913321
|
|
|
NM_000455.5(STK11):c.843del (p.Leu282fs)
|
rs587776656
|
|
|
NM_000455.5(STK11):c.843dup (p.Leu282fs)
|
rs1131690949
|
|
|
NM_000455.5(STK11):c.844C>T (p.Leu282Phe)
|
rs1555738722
|
|
|
NM_000455.5(STK11):c.844dup (p.Leu282fs)
|
rs786205864
|
|
|
NM_000455.5(STK11):c.849T>C (p.Ser283=)
|
rs876658659
|
|
|
NM_000455.5(STK11):c.84C>T (p.Arg28=)
|
rs778468876
|
|
|
NM_000455.5(STK11):c.84_97dup (p.Glu33fs)
|
rs2080670808
|
|
|
NM_000455.5(STK11):c.850G>C (p.Asp284His)
|
|
|
|
NM_000455.5(STK11):c.851A>G (p.Asp284Gly)
|
rs2145427238
|
|
|
NM_000455.5(STK11):c.851del (p.Asp284fs)
|
rs1555738723
|
|
|
NM_000455.5(STK11):c.852C>G (p.Asp284Glu)
|
|
|
|
NM_000455.5(STK11):c.852C>T (p.Asp284=)
|
rs2145427244
|
|
|
NM_000455.5(STK11):c.853C>T (p.Leu285=)
|
rs749344634
|
|
|
NM_000455.5(STK11):c.854T>C (p.Leu285Pro)
|
rs1555738724
|
|
|
NM_000455.5(STK11):c.854T>G (p.Leu285Arg)
|
rs1555738724
|
|
|
NM_000455.5(STK11):c.855G>A (p.Leu285=)
|
rs1599927757
|
|
|
NM_000455.5(STK11):c.855G>C (p.Leu285=)
|
rs1599927757
|
|
|
NM_000455.5(STK11):c.856C>T (p.Leu286=)
|
|
|
|
NM_000455.5(STK11):c.859A>G (p.Lys287Glu)
|
|
|
|
NM_000455.5(STK11):c.85A>T (p.Ile29Phe)
|
rs864622719
|
|
|
NM_000455.5(STK11):c.860A>G (p.Lys287Arg)
|
rs1349316725
|
|
|
NM_000455.5(STK11):c.862+15C>T
|
rs1555738741
|
|
|
NM_000455.5(STK11):c.862+16C>G
|
rs761078890
|
|
|
NM_000455.5(STK11):c.862+16C>T
|
rs761078890
|
|
|
NM_000455.5(STK11):c.862+17_862+23del
|
|
|
|
NM_000455.5(STK11):c.862+18C>T
|
rs2145427376
|
|
|
NM_000455.5(STK11):c.862+1G>A
|
|
|
|
NM_000455.5(STK11):c.862+1G>T
|
rs1131690921
|
|
|
NM_000455.5(STK11):c.862+3G>A
|
|
|
|
NM_000455.5(STK11):c.862+4G>A
|
rs1555738736
|
|
|
NM_000455.5(STK11):c.862+5G>T
|
rs2080783109
|
|
|
NM_000455.5(STK11):c.862+6_862+7dup
|
rs2145427319
|
|
|
NM_000455.5(STK11):c.862+8C>T
|
rs1555738737
|
|
|
NM_000455.5(STK11):c.862+9C>T
|
rs2080783149
|
|
|
NM_000455.5(STK11):c.863-10T>G
|
rs1340156337
|
|
|
NM_000455.5(STK11):c.863-11C>T
|
rs2145428564
|
|
|
NM_000455.5(STK11):c.863-13G>A
|
|
|
|
NM_000455.5(STK11):c.863-13G>C
|
|
|
|
NM_000455.5(STK11):c.863-14C>G
|
rs756001994
|
|
|
NM_000455.5(STK11):c.863-15C>A
|
rs2145428549
|
|
|
NM_000455.5(STK11):c.863-15C>T
|
|
|
|
NM_000455.5(STK11):c.863-16G>T
|
rs373096204
|
|
|
NM_000455.5(STK11):c.863-17C>G
|
|
|
|
NM_000455.5(STK11):c.863-17C>T
|
rs535445817
|
|
|
NM_000455.5(STK11):c.863-19C>G
|
|
|
|
NM_000455.5(STK11):c.863-1G>A
|
rs863224448
|
|
|
NM_000455.5(STK11):c.863-1G>C
|
rs863224448
|
|
|
NM_000455.5(STK11):c.863-20C>A
|
|
|
|
NM_000455.5(STK11):c.863-20C>G
|
|
|
|
NM_000455.5(STK11):c.863-3C>T
|
rs1599928254
|
|
|
NM_000455.5(STK11):c.863-3_863-2dup
|
rs2080787306
|
|
|
NM_000455.5(STK11):c.863-5C>T
|
rs1599928248
|
|
|
NM_000455.5(STK11):c.863-5_863-3del
|
rs764739106
|
|
|
NM_000455.5(STK11):c.863-5del
|
rs2145428588
|
|
|
NM_000455.5(STK11):c.863-7T>C
|
rs1599928242
|
|
|
NM_000455.5(STK11):c.863-9T>C
|
rs1555738854
|
|
|
NM_000455.5(STK11):c.864G>A (p.Gly288=)
|
rs2080787350
|
|
|
NM_000455.5(STK11):c.865A>G (p.Met289Val)
|
|
|
|
NM_000455.5(STK11):c.865A>T (p.Met289Leu)
|
rs2145428612
|
|
|
NM_000455.5(STK11):c.867G>A (p.Met289Ile)
|
rs2145428623
|
|
|
NM_000455.5(STK11):c.868C>A (p.Leu290Ile)
|
|
|
|
NM_000455.5(STK11):c.869T>C (p.Leu290Pro)
|
rs1057524439
|
|
|
NM_000455.5(STK11):c.870T>G (p.Leu290=)
|
rs876660056
|
|
|
NM_000455.5(STK11):c.874T>C (p.Tyr292His)
|
|
|
|
NM_000455.5(STK11):c.875A>G (p.Tyr292Cys)
|
rs587780011
|
|
|
NM_000455.5(STK11):c.875A>T (p.Tyr292Phe)
|
rs587780011
|
|
|
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter)
|
rs148928808
|
|
|
NM_000455.5(STK11):c.877G>C (p.Glu293Gln)
|
|
|
|
NM_000455.5(STK11):c.87C>T (p.Ile29=)
|
rs745530022
|
|
|
NM_000455.5(STK11):c.880C>T (p.Pro294Ser)
|
|
|
|
NM_000455.5(STK11):c.881C>G (p.Pro294Arg)
|
rs866454760
|
|
|
NM_000455.5(STK11):c.881C>T (p.Pro294Leu)
|
rs866454760
|
|
|
NM_000455.5(STK11):c.882G>T (p.Pro294=)
|
|
|
|
NM_000455.5(STK11):c.884C>T (p.Ala295Val)
|
rs866664820
|
|
|
NM_000455.5(STK11):c.884_888del (p.Ala295fs)
|
rs1555738863
|
|
|
NM_000455.5(STK11):c.885C>T (p.Ala295=)
|
|
|
|
NM_000455.5(STK11):c.886A>T (p.Lys296Ter)
|
|
|
|
NM_000455.5(STK11):c.888G>T (p.Lys296Asn)
|
rs1555738868
|
|
|
NM_000455.5(STK11):c.889A>C (p.Arg297=)
|
rs730881978
|
|
|
NM_000455.5(STK11):c.889_890del (p.Arg297fs)
|
rs2145428733
|
|
|
NM_000455.5(STK11):c.890G>A (p.Arg297Lys)
|
rs1568710381
|
|
|
NM_000455.5(STK11):c.891G>T (p.Arg297Ser)
|
rs730881984
|
|
|
NM_000455.5(STK11):c.891del (p.Arg297fs)
|
rs587776661
|
|
|
NM_000455.5(STK11):c.892T>C (p.Phe298Leu)
|
|
|
|
NM_000455.5(STK11):c.894C>G (p.Phe298Leu)
|
rs199681533
|
|
|
NM_000455.5(STK11):c.895_901dup (p.Arg301fs)
|
rs1555738874
|
|
|
NM_000455.5(STK11):c.897_905del (p.300IRQ[1])
|
|
|
|
NM_000455.5(STK11):c.898ATCCGGCAG[1] (p.300IRQ[1])
|
rs2145428787
|
|
|
NM_000455.5(STK11):c.898ATCCGGCAG[3] (p.300IRQ[3])
|
rs2145428787
|
|
|
NM_000455.5(STK11):c.899T>A (p.Ile300Asn)
|
rs2145428790
|
|
|
NM_000455.5(STK11):c.8T>G (p.Val3Gly)
|
rs886054216
|
|
|
NM_000455.5(STK11):c.8TGG[1] (p.Val4del)
|
rs1555734848
|
|
|
NM_000455.5(STK11):c.902G>C (p.Arg301Pro)
|
|
|
|
NM_000455.5(STK11):c.905A>T (p.Gln302Leu)
|
|
|
|
NM_000455.5(STK11):c.906G>A (p.Gln302=)
|
rs1555738888
|
|
|
NM_000455.5(STK11):c.908_916del (p.Ile303_His306delinsAsn)
|
rs587776660
|
|
|
NM_000455.5(STK11):c.909C>G (p.Ile303Met)
|
|
|
|
NM_000455.5(STK11):c.909C>T (p.Ile303=)
|
rs1599928335
|
|
|
NM_000455.5(STK11):c.90C>G (p.Asp30Glu)
|
rs771765869
|
|
|
NM_000455.5(STK11):c.90C>T (p.Asp30=)
|
rs771765869
|
|
|
NM_000455.5(STK11):c.910C>G (p.Arg304Gly)
|
|
|
|
NM_000455.5(STK11):c.910C>T (p.Arg304Trp)
|
rs786201090
|
|
|
NM_000455.5(STK11):c.910del (p.Arg304fs)
|
rs1064793427
|
|
|
NM_000455.5(STK11):c.911G>C (p.Arg304Pro)
|
rs376280361
|
|
|
NM_000455.5(STK11):c.912G>A (p.Arg304=)
|
|
|
|
NM_000455.5(STK11):c.912G>T (p.Arg304=)
|
rs2080787972
|
|
|
NM_000455.5(STK11):c.913C>G (p.Gln305Glu)
|
|
|
|
NM_000455.5(STK11):c.913C>T (p.Gln305Ter)
|
rs1131690945
|
|
|
NM_000455.5(STK11):c.914A>G (p.Gln305Arg)
|
rs2080788003
|
|
|
NM_000455.5(STK11):c.915G>A (p.Gln305=)
|
rs1297148927
|
|
|
NM_000455.5(STK11):c.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC
|
|
|
|
NM_000455.5(STK11):c.916C>T (p.His306Tyr)
|
rs2145428869
|
|
|
NM_000455.5(STK11):c.917A>G (p.His306Arg)
|
rs1363241574
|
|
|
NM_000455.5(STK11):c.918C>T (p.His306=)
|
rs1555738897
|
|
|
NM_000455.5(STK11):c.91T>G (p.Ser31Ala)
|
|
|
|
NM_000455.5(STK11):c.920+10C>T
|
|
|
|
NM_000455.5(STK11):c.920+12C>G
|
|
|
|
NM_000455.5(STK11):c.920+13T>C
|
|
|
|
NM_000455.5(STK11):c.920+14G>A
|
|
|
|
NM_000455.5(STK11):c.920+15G>A
|
rs750454374
|
|
|
NM_000455.5(STK11):c.920+16G>A
|
rs1463228034
|
|
|
NM_000455.5(STK11):c.920+16G>C
|
|
|
|
NM_000455.5(STK11):c.920+17G>A
|
|
|
|
NM_000455.5(STK11):c.920+17G>T
|
rs2080788358
|
|
|
NM_000455.5(STK11):c.920+18G>A
|
|
|
|
NM_000455.5(STK11):c.920+18_920+26del
|
rs2145428974
|
|
|
NM_000455.5(STK11):c.920+19C>T
|
|
|
|
NM_000455.5(STK11):c.920+1G>A
|
rs1131690920
|
|
|
NM_000455.5(STK11):c.920+1G>C
|
|
|
|
NM_000455.5(STK11):c.920+1del
|
rs1599928360
|
|
|
NM_000455.5(STK11):c.920+2T>C
|
|
|
|
NM_000455.5(STK11):c.920+3G>T
|
rs2080788122
|
|
|
NM_000455.5(STK11):c.920+6_920+21del
|
|
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
|
NM_000455.5(STK11):c.920+7G>T
|
rs2075607
|
|
|
NM_000455.5(STK11):c.920+7_920+8delinsCA
|
rs1057517545
|
|
|
NM_000455.5(STK11):c.920+7_920+8delinsCT
|
rs1057517545
|
|
|
NM_000455.5(STK11):c.920+8G>T
|
|
|
|
NM_000455.5(STK11):c.920+9C>A
|
rs757109406
|
|
|
NM_000455.5(STK11):c.920+9C>G
|
rs757109406
|
|
|
NM_000455.5(STK11):c.920+9C>T
|
rs757109406
|
|
|
NM_000455.5(STK11):c.920G>A (p.Ser307Asn)
|
rs1248289980
|
|
|
NM_000455.5(STK11):c.921-13T>C
|
|
|
|
NM_000455.5(STK11):c.921-15T>C
|
|
|
|
NM_000455.5(STK11):c.921-18_921-15del
|
rs752464256
|
|
|
NM_000455.5(STK11):c.921-1G>A
|
|
|
|
NM_000455.5(STK11):c.921-1G>C
|
rs398123406
|
|
|
NM_000455.5(STK11):c.921-20C>G
|
rs2145430516
|
|
|
NM_000455.5(STK11):c.921-20C>T
|
|
|
|
NM_000455.5(STK11):c.921-2A>C
|
rs727504172
|
|
|
NM_000455.5(STK11):c.921-3C>T
|
rs765048057
|
|
|
NM_000455.5(STK11):c.921-5T>C
|
rs2145430591
|
|
|
NM_000455.5(STK11):c.921-6T>C
|
rs759049461
|
|
|
NM_000455.5(STK11):c.921-8G>C
|
rs863224362
|
|
|
NM_000455.5(STK11):c.921-8G>T
|
rs863224362
|
|
|
NM_000455.5(STK11):c.921-9del
|
rs1555739151
|
|
|
NM_000455.5(STK11):c.921C>G (p.Ser307Arg)
|
rs2145430611
|
|
|
NM_000455.5(STK11):c.922T>C (p.Trp308Arg)
|
rs2080795639
|
|
|
NM_000455.5(STK11):c.923G>A (p.Trp308Ter)
|
rs864622488
|
|
|
NM_000455.5(STK11):c.923G>T (p.Trp308Leu)
|
rs864622488
|
|
|
NM_000455.5(STK11):c.924G>C (p.Trp308Cys)
|
rs1057520042
|
|
|
NM_000455.5(STK11):c.924G>T (p.Trp308Cys)
|
|
|
|
NM_000455.5(STK11):c.928C>T (p.Arg310Trp)
|
rs750366043
|
|
|
NM_000455.5(STK11):c.930G>A (p.Arg310=)
|
|
|
|
NM_000455.5(STK11):c.930G>C (p.Arg310=)
|
rs2080795732
|
|
|
NM_000455.5(STK11):c.932A>G (p.Lys311Arg)
|
rs2080795745
|
|
|
NM_000455.5(STK11):c.933G>A (p.Lys311=)
|
rs1409790643
|
|
|
NM_000455.5(STK11):c.933G>T (p.Lys311Asn)
|
|
|
|
NM_000455.5(STK11):c.933del (p.Lys312fs)
|
rs2080795769
|
|
|
NM_000455.5(STK11):c.934A>C (p.Lys312Gln)
|
rs1060499952
|
|
|
NM_000455.5(STK11):c.935_936del (p.Lys312fs)
|
rs397518443
|
|
|
NM_000455.5(STK11):c.939T>C (p.His313=)
|
|
|
|
NM_000455.5(STK11):c.939T>G (p.His313Gln)
|
rs1555739169
|
|
|
NM_000455.5(STK11):c.93C>A (p.Ser31=)
|
rs775258601
|
|
|
NM_000455.5(STK11):c.93C>T (p.Ser31=)
|
rs775258601
|
|
|
NM_000455.5(STK11):c.940C>G (p.Pro314Ala)
|
rs758416485
|
|
|
NM_000455.5(STK11):c.940C>T (p.Pro314Ser)
|
rs758416485
|
|
|
NM_000455.5(STK11):c.940_941del (p.Pro314fs)
|
rs2145430693
|
|
|
NM_000455.5(STK11):c.942T>C (p.Pro314=)
|
rs1256260277
|
|
|
NM_000455.5(STK11):c.943C>G (p.Pro315Ala)
|
rs786202431
|
|
|
NM_000455.5(STK11):c.943C>T (p.Pro315Ser)
|
rs786202431
|
|
|
NM_000455.5(STK11):c.944del (p.Pro315fs)
|
rs2145430705
|
|
|
NM_000455.5(STK11):c.945G>T (p.Pro315=)
|
rs376329042
|
|
|
NM_000455.5(STK11):c.946G>A (p.Ala316Thr)
|
rs864622303
|
|
|
NM_000455.5(STK11):c.946G>C (p.Ala316Pro)
|
rs864622303
|
|
|
NM_000455.5(STK11):c.951A>G (p.Glu317=)
|
rs2145430729
|
|
|
NM_000455.5(STK11):c.952G>A (p.Ala318Thr)
|
rs587781966
|
|
|
NM_000455.5(STK11):c.952G>C (p.Ala318Pro)
|
rs587781966
|
|
|
NM_000455.5(STK11):c.954A>C (p.Ala318=)
|
rs1555739188
|
|
|
NM_000455.5(STK11):c.954_956delinsCCAGGTGGGA (p.Pro319fs)
|
rs2080796043
|
|
|
NM_000455.5(STK11):c.955C>T (p.Pro319Ser)
|
rs2145430747
|
|
|
NM_000455.5(STK11):c.956C>A (p.Pro319Gln)
|
rs1181445340
|
|
|
NM_000455.5(STK11):c.956C>T (p.Pro319Leu)
|
rs1181445340
|
|
|
NM_000455.5(STK11):c.958G>T (p.Val320Leu)
|
rs1481299816
|
|
|
NM_000455.5(STK11):c.95C>T (p.Thr32Ile)
|
|
|
|
NM_000455.5(STK11):c.960G>T (p.Val320=)
|
rs752961535
|
|
|
NM_000455.5(STK11):c.961C>A (p.Pro321Thr)
|
rs1377304428
|
|
|
NM_000455.5(STK11):c.961C>G (p.Pro321Ala)
|
rs1377304428
|
|
|
NM_000455.5(STK11):c.961_962delinsT (p.Pro321fs)
|
|
|
|
NM_000455.5(STK11):c.964A>G (p.Ile322Val)
|
rs1464772848
|
|
|
NM_000455.5(STK11):c.964del (p.Ile322fs)
|
rs1599929335
|
|
|
NM_000455.5(STK11):c.965dup (p.Pro324fs)
|
rs1599929339
|
|
|
NM_000455.5(STK11):c.966C>T (p.Ile322=)
|
|
|
|
NM_000455.5(STK11):c.967C>G (p.Pro323Ala)
|
rs1599929342
|
|
|
NM_000455.5(STK11):c.967C>T (p.Pro323Ser)
|
rs1599929342
|
|
|
NM_000455.5(STK11):c.969A>C (p.Pro323=)
|
rs1399205535
|
|
|
NM_000455.5(STK11):c.969_971del (p.Pro324del)
|
rs876660268
|
|
|
NM_000455.5(STK11):c.96C>G (p.Thr32=)
|
rs79175212
|
|
|
NM_000455.5(STK11):c.96C>T (p.Thr32=)
|
rs79175212
|
|
|
NM_000455.5(STK11):c.970C>T (p.Pro324Ser)
|
rs549474196
|
|
|
NM_000455.5(STK11):c.971C>A (p.Pro324Gln)
|
|
|
|
NM_000455.5(STK11):c.971C>G (p.Pro324Arg)
|
rs367807476
|
|
|
NM_000455.5(STK11):c.974G>C (p.Ser325Thr)
|
rs587781643
|
|
|
NM_000455.5(STK11):c.975C>T (p.Ser325=)
|
rs1599929360
|
|
|
NM_000455.5(STK11):c.976C>T (p.Pro326Ser)
|
rs771632414
|
|
|
NM_000455.5(STK11):c.977C>T (p.Pro326Leu)
|
rs587781474
|
|
|
NM_000455.5(STK11):c.978A>G (p.Pro326=)
|
rs1555739204
|
|
|
NM_000455.5(STK11):c.979G>A (p.Asp327Asn)
|
rs1568712119
|
|
|
NM_000455.5(STK11):c.979G>C (p.Asp327His)
|
|
|
|
NM_000455.5(STK11):c.980A>G (p.Asp327Gly)
|
rs864622638
|
|
|
NM_000455.5(STK11):c.983C>A (p.Thr328Asn)
|
|
|
|
NM_000455.5(STK11):c.983C>G (p.Thr328Ser)
|
rs1405959130
|
|
|
NM_000455.5(STK11):c.983C>T (p.Thr328Ile)
|
rs1405959130
|
|
|
NM_000455.5(STK11):c.984C>A (p.Thr328=)
|
rs730881965
|
|
|
NM_000455.5(STK11):c.986A>G (p.Lys329Arg)
|
rs2080796505
|
|
|
NM_000455.5(STK11):c.987G>A (p.Lys329=)
|
rs1555739210
|
|
|
NM_000455.5(STK11):c.989A>G (p.Asp330Gly)
|
|
|
|
NM_000455.5(STK11):c.989_996del (p.Asp330fs)
|
rs1060499960
|
|
|
NM_000455.5(STK11):c.990C>G (p.Asp330Glu)
|
rs786201811
|
|
|
NM_000455.5(STK11):c.990C>T (p.Asp330=)
|
|
|
|
NM_000455.5(STK11):c.991C>G (p.Arg331Gly)
|
rs876658594
|
|
|
NM_000455.5(STK11):c.992G>T (p.Arg331Leu)
|
rs371264852
|
|
|
NM_000455.5(STK11):c.993G>A (p.Arg331=)
|
rs1599929398
|
|
|
NM_000455.5(STK11):c.997C>T (p.Arg333Cys)
|
rs746564972
|
|
|
NM_000455.5(STK11):c.998G>A (p.Arg333His)
|
rs587782267
|
|
|
NM_000455.5(STK11):c.99G>A (p.Glu33=)
|
rs863224363
|
|
|
NM_000455.5(STK11):c.99G>C (p.Glu33Asp)
|
rs863224363
|
|
|
NM_000455.5(STK11):c.9G>A (p.Val3=)
|
rs1555734857
|
|
|
NM_001393918.1(CBARP):c.*757_*765del
|
rs142990629
|
|
|
NM_001393918.1(CBARP):c.*846G>A
|
rs886054225
|
|
|
NM_001393918.1(CBARP):c.*861C>T
|
rs2080843947
|
|
|
STK11, EX4-5DEL/EX6-7INV
|
|
|