NM_000455.5(STK11):c.464+9G>A
|
rs376313955
|
0.00208
|
NM_000455.5(STK11):c.598-36C>T
|
rs532466406
|
0.00131
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
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.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_000455.5(STK11):c.1284G>A (p.Ser428=)
|
rs369097329
|
0.00035
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_000455.5(STK11):c.1194G>A (p.Ala398=)
|
rs184271025
|
0.00023
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000455.5(STK11):c.920+12C>T
|
rs186518799
|
0.00014
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000455.5(STK11):c.735-9G>A
|
rs201899557
|
0.00009
|
NM_000455.5(STK11):c.862+26A>C
|
rs762458568
|
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.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000455.5(STK11):c.*16+12C>T
|
rs730881966
|
0.00006
|
NM_000455.5(STK11):c.734+17C>G
|
rs751929304
|
0.00006
|
NM_000455.5(STK11):c.*16+7C>T
|
rs992400907
|
0.00005
|
NM_000455.5(STK11):c.237C>T (p.Ile79=)
|
rs751859508
|
0.00005
|
NM_000455.5(STK11):c.366G>A (p.Lys122=)
|
rs376969448
|
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.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.1109-3C>T
|
rs864622219
|
0.00004
|
NM_000455.5(STK11):c.290+18G>A
|
rs757929417
|
0.00004
|
NM_000455.5(STK11):c.42G>A (p.Glu14=)
|
rs758769888
|
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.*16+14G>A
|
rs772576776
|
0.00003
|
NM_000455.5(STK11):c.*16+20G>T
|
rs1044825795
|
0.00003
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
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.588C>T (p.Gly196=)
|
rs769309428
|
0.00003
|
NM_000455.5(STK11):c.615G>A (p.Ala205=)
|
rs532889728
|
0.00003
|
NM_000455.5(STK11):c.876C>T (p.Tyr292=)
|
rs148928808
|
0.00003
|
NM_000455.5(STK11):c.*16+16G>C
|
rs762548463
|
0.00002
|
NM_000455.5(STK11):c.-9G>A
|
rs770466669
|
0.00002
|
NM_000455.5(STK11):c.1109-14C>T
|
rs780434041
|
0.00002
|
NM_000455.5(STK11):c.597+9G>A
|
rs863224361
|
0.00002
|
NM_000455.5(STK11):c.734+44G>A
|
rs556200126
|
0.00002
|
NM_000455.5(STK11):c.771G>A (p.Gly257=)
|
rs777998890
|
0.00002
|
NM_000455.5(STK11):c.*11C>T
|
rs553039153
|
0.00001
|
NM_000455.5(STK11):c.*16+18C>T
|
rs1057522995
|
0.00001
|
NM_000455.5(STK11):c.*17-13T>A
|
rs971149433
|
0.00001
|
NM_000455.5(STK11):c.*18C>G
|
rs1057522352
|
0.00001
|
NM_000455.5(STK11):c.-11C>T
|
rs772584871
|
0.00001
|
NM_000455.5(STK11):c.1109-15C>A
|
rs1057520799
|
0.00001
|
NM_000455.5(STK11):c.1128G>A (p.Glu376=)
|
rs747018506
|
0.00001
|
NM_000455.5(STK11):c.1164G>A (p.Lys388=)
|
rs786202390
|
0.00001
|
NM_000455.5(STK11):c.1190C>T (p.Ala397Val)
|
rs558040549
|
0.00001
|
NM_000455.5(STK11):c.1278G>A (p.Arg426=)
|
rs201256614
|
0.00001
|
NM_000455.5(STK11):c.15C>T (p.Asp5=)
|
rs786201498
|
0.00001
|
NM_000455.5(STK11):c.243G>A (p.Lys81=)
|
rs961970080
|
0.00001
|
NM_000455.5(STK11):c.279C>G (p.Ala93=)
|
rs786201852
|
0.00001
|
NM_000455.5(STK11):c.290+15C>T
|
rs1057520378
|
0.00001
|
NM_000455.5(STK11):c.290+7A>G
|
rs587782371
|
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.300A>G (p.Gln100=)
|
rs765890997
|
0.00001
|
NM_000455.5(STK11):c.312G>A (p.Arg104=)
|
rs780749732
|
0.00001
|
NM_000455.5(STK11):c.396C>T (p.Cys132=)
|
rs730881969
|
0.00001
|
NM_000455.5(STK11):c.441T>C (p.Arg147=)
|
rs786201456
|
0.00001
|
NM_000455.5(STK11):c.465-15G>T
|
rs765010137
|
0.00001
|
NM_000455.5(STK11):c.465-7C>T
|
rs864622317
|
0.00001
|
NM_000455.5(STK11):c.480G>T (p.Leu160=)
|
rs1176365465
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
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+31G>A
|
rs764179419
|
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.663G>T (p.Pro221=)
|
rs587780720
|
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.765C>T (p.Phe255=)
|
rs769912677
|
0.00001
|
NM_000455.5(STK11):c.846C>G (p.Leu282=)
|
rs777872290
|
0.00001
|
NM_000455.5(STK11):c.862+20G>T
|
rs1057522675
|
0.00001
|
NM_000455.5(STK11):c.882G>A (p.Pro294=)
|
rs587781178
|
0.00001
|
NM_000455.5(STK11):c.891G>A (p.Arg297=)
|
rs730881984
|
0.00001
|
NM_000455.5(STK11):c.957A>G (p.Pro319=)
|
rs755126393
|
0.00001
|
NM_000455.5(STK11):c.963C>T (p.Pro321=)
|
rs878853993
|
0.00001
|
NM_000455.5(STK11):c.*16+19C>T
|
rs1040395243
|
|
NM_000455.5(STK11):c.*16+7_*16+36del
|
rs1064794374
|
|
NM_000455.5(STK11):c.*16+8G>A
|
rs930846814
|
|
NM_000455.5(STK11):c.*17-14C>T
|
rs896033152
|
|
NM_000455.5(STK11):c.*17-6C>T
|
rs866505758
|
|
NM_000455.5(STK11):c.*29_*40del
|
rs1064795093
|
|
NM_000455.5(STK11):c.*6G>A
|
rs1057523753
|
|
NM_000455.5(STK11):c.-10T>G
|
rs748868995
|
|
NM_000455.5(STK11):c.-11del
|
rs1555734834
|
|
NM_000455.5(STK11):c.-17A>G
|
rs1555734829
|
|
NM_000455.5(STK11):c.-19C>T
|
rs1057522370
|
|
NM_000455.5(STK11):c.-48C>G
|
rs1044460918
|
|
NM_000455.5(STK11):c.-50_-43del
|
rs1064794909
|
|
NM_000455.5(STK11):c.-7del
|
rs1064795642
|
|
NM_000455.5(STK11):c.1109-13G>T
|
rs568152768
|
|
NM_000455.5(STK11):c.1109-15C>T
|
rs1057520799
|
|
NM_000455.5(STK11):c.1109-17T>C
|
rs1555740052
|
|
NM_000455.5(STK11):c.1109-23del
|
rs1446932431
|
|
NM_000455.5(STK11):c.1140T>C (p.Asn380=)
|
rs1057521658
|
|
NM_000455.5(STK11):c.1149C>T (p.Arg383=)
|
rs2145435963
|
|
NM_000455.5(STK11):c.117C>T (p.Arg39=)
|
rs786203942
|
|
NM_000455.5(STK11):c.1191G>A (p.Ala397=)
|
rs774759899
|
|
NM_000455.5(STK11):c.120C>T (p.Arg40=)
|
rs878853984
|
|
NM_000455.5(STK11):c.1212C>T (p.Ser404=)
|
rs754945004
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1284G>T (p.Ser428=)
|
rs369097329
|
|
NM_000455.5(STK11):c.12G>A (p.Val4=)
|
rs1379886566
|
|
NM_000455.5(STK11):c.163C>T (p.Leu55=)
|
rs1057520869
|
|
NM_000455.5(STK11):c.168G>C (p.Gly56=)
|
rs1057521938
|
|
NM_000455.5(STK11):c.207G>T (p.Ser69=)
|
rs746735912
|
|
NM_000455.5(STK11):c.267C>T (p.Pro89=)
|
rs778290623
|
|
NM_000455.5(STK11):c.290+11C>T
|
rs1057520983
|
|
NM_000455.5(STK11):c.290+21T>G
|
rs918874227
|
|
NM_000455.5(STK11):c.290+21_290+26dup
|
rs1555735086
|
|
NM_000455.5(STK11):c.290+38C>T
|
rs1311810080
|
|
NM_000455.5(STK11):c.291-40C>T
|
|
|
NM_000455.5(STK11):c.303A>G (p.Leu101=)
|
rs1057522543
|
|
NM_000455.5(STK11):c.318G>T (p.Arg106=)
|
rs777784520
|
|
NM_000455.5(STK11):c.414A>G (p.Glu138=)
|
rs1045257509
|
|
NM_000455.5(STK11):c.435G>A (p.Glu145=)
|
rs1555737810
|
|
NM_000455.5(STK11):c.453C>T (p.Cys151=)
|
rs786201510
|
|
NM_000455.5(STK11):c.464+11G>C
|
rs571895916
|
|
NM_000455.5(STK11):c.464+15C>T
|
rs1057521355
|
|
NM_000455.5(STK11):c.464+32C>G
|
rs1568705955
|
|
NM_000455.5(STK11):c.464+32CGGGGGC[3]
|
rs58579265
|
|
NM_000455.5(STK11):c.464+34G>T
|
|
|
NM_000455.5(STK11):c.464+38_464+39insTGGGGGC
|
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000455.5(STK11):c.490C>T (p.Leu164=)
|
|
|
NM_000455.5(STK11):c.528C>T (p.Asp176=)
|
rs876658393
|
|
NM_000455.5(STK11):c.555C>T (p.Thr185=)
|
rs1060503781
|
|
NM_000455.5(STK11):c.558C>T (p.Thr186=)
|
rs749563734
|
|
NM_000455.5(STK11):c.579C>A (p.Ser193=)
|
rs730881961
|
|
NM_000455.5(STK11):c.597+10T>C
|
|
|
NM_000455.5(STK11):c.597+21G>T
|
rs767482086
|
|
NM_000455.5(STK11):c.597+21del
|
rs534445875
|
|
NM_000455.5(STK11):c.597+21dup
|
rs534445875
|
|
NM_000455.5(STK11):c.597+22C>T
|
|
|
NM_000455.5(STK11):c.598-12G>A
|
rs587781578
|
|
NM_000455.5(STK11):c.609G>C (p.Pro203=)
|
rs786201228
|
|
NM_000455.5(STK11):c.663G>A (p.Pro221=)
|
rs587780720
|
|
NM_000455.5(STK11):c.690C>T (p.Thr230=)
|
rs1057520971
|
|
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.734+12G>A
|
rs876661094
|
|
NM_000455.5(STK11):c.734+19dup
|
rs730881962
|
|
NM_000455.5(STK11):c.734+49G>C
|
|
|
NM_000455.5(STK11):c.735-10C>T
|
rs553975112
|
|
NM_000455.5(STK11):c.735-13C>T
|
rs1180463550
|
|
NM_000455.5(STK11):c.735-17C>T
|
rs1057520874
|
|
NM_000455.5(STK11):c.735-46A>G
|
|
|
NM_000455.5(STK11):c.747C>T (p.Thr249=)
|
rs759546076
|
|
NM_000455.5(STK11):c.756G>A (p.Leu252=)
|
rs786201544
|
|
NM_000455.5(STK11):c.759C>T (p.Tyr253=)
|
rs137853075
|
|
NM_000455.5(STK11):c.789G>A (p.Leu263=)
|
rs1555738654
|
|
NM_000455.5(STK11):c.807G>A (p.Lys269=)
|
rs1057523146
|
|
NM_000455.5(STK11):c.862+27G>C
|
|
|
NM_000455.5(STK11):c.863-17C>T
|
rs535445817
|
|
NM_000455.5(STK11):c.90C>T (p.Asp30=)
|
rs771765869
|
|
NM_000455.5(STK11):c.920+7G>A
|
rs2075607
|
|
NM_000455.5(STK11):c.920+7G>T
|
rs2075607
|
|
NM_000455.5(STK11):c.921-18_921-15del
|
rs752464256
|
|
NM_000455.5(STK11):c.921-4G>A
|
rs1057522188
|
|
NM_000455.5(STK11):c.921-9del
|
rs1555739151
|
|
NM_000455.5(STK11):c.942T>C (p.Pro314=)
|
rs1256260277
|
|