NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_001040716.2(PC):c.*89G>A
|
rs186152567
|
0.00123
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_001040716.2(PC):c.486G>A (p.Ala162=)
|
rs142416378
|
0.00041
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
NM_001040716.2(PC):c.*15G>A
|
rs45501894
|
0.00027
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
NM_001040716.2(PC):c.*373C>T
|
rs189863040
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_001040716.2(PC):c.*353A>G
|
rs557595819
|
0.00019
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001040716.2(PC):c.2804C>T (p.Ala935Val)
|
rs139540331
|
0.00016
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
NM_001040716.2(PC):c.190G>A (p.Val64Ile)
|
rs35698729
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
|
rs139795235
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
NM_001040716.2(PC):c.*185G>A
|
rs573667993
|
0.00010
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
|
rs940286072
|
0.00007
|
NM_001040716.2(PC):c.50G>A (p.Arg17His)
|
rs375282341
|
0.00007
|
NM_001040716.2(PC):c.1512C>T (p.Leu504=)
|
rs763298490
|
0.00006
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
NM_001040716.2(PC):c.*188G>A
|
rs553630251
|
0.00004
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly)
|
rs771700107
|
0.00004
|
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
|
rs138990904
|
0.00004
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
NM_001040716.2(PC):c.2128G>A (p.Val710Met)
|
rs749176333
|
0.00003
|
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn)
|
rs747786536
|
0.00003
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
|
rs773369359
|
0.00003
|
NM_001040716.2(PC):c.*43C>T
|
rs751861809
|
0.00002
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
NM_001040716.2(PC):c.1354G>A (p.Val452Ile)
|
rs779387492
|
0.00002
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn)
|
rs758910766
|
0.00002
|
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys)
|
rs192822072
|
0.00002
|
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)
|
rs145046106
|
0.00002
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
|
rs768048602
|
0.00002
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
NM_001040716.2(PC):c.*161C>T
|
rs886048554
|
0.00001
|
NM_001040716.2(PC):c.1-4C>A
|
rs1313846853
|
0.00001
|
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys)
|
rs773109008
|
0.00001
|
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
|
rs773645433
|
0.00001
|
NM_001040716.2(PC):c.127G>A (p.Ala43Thr)
|
rs756621649
|
0.00001
|
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
|
rs765499560
|
0.00001
|
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu)
|
rs151174961
|
0.00001
|
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln)
|
rs773005705
|
0.00001
|
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg)
|
rs746060650
|
0.00001
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro)
|
rs1945435067
|
0.00001
|
NM_001040716.2(PC):c.2740G>A (p.Val914Met)
|
rs775626599
|
0.00001
|
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
|
rs565678903
|
0.00001
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
NM_001040716.2(PC):c.331G>A (p.Val111Ile)
|
rs753573264
|
0.00001
|
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
|
rs745961257
|
0.00001
|
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
|
rs199678394
|
0.00001
|
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)
|
rs119103241
|
0.00001
|
NM_001040716.2(PC):c.487+7A>G
|
rs766680971
|
0.00001
|
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
|
rs767170503
|
0.00001
|
NM_001040716.2(PC):c.679G>A (p.Ala227Thr)
|
rs773004288
|
0.00001
|
NM_001040716.2(PC):c.784G>A (p.Glu262Lys)
|
rs1324553572
|
0.00001
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
NM_001040716.2(PC):c.*101G>A
|
rs561169212
|
|
NM_001040716.2(PC):c.*164dup
|
rs762257488
|
|
NM_001040716.2(PC):c.*203T>C
|
rs886048553
|
|
NM_001040716.2(PC):c.*88G>A
|
rs1945295941
|
|
NM_001040716.2(PC):c.1-35661G>T
|
rs1555040359
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
|
|
|
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
|
|
|
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
|
rs866715653
|
|
NM_001040716.2(PC):c.1052T>C (p.Val351Ala)
|
rs1261989853
|
|
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
|
|
|
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
|
|
|
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
|
|
|
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
|
|
|
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
|
|
|
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
|
|
|
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
|
|
|
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)
|
rs1057520687
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
NM_001040716.2(PC):c.118G>C (p.Val40Leu)
|
rs2135943669
|
|
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
|
|
|
NM_001040716.2(PC):c.1225_1227del (p.Asn409del)
|
rs1555023879
|
|
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
|
|
|
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
|
|
|
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
|
|
|
NM_001040716.2(PC):c.1369-8T>A
|
|
|
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp)
|
rs947957837
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
NM_001040716.2(PC):c.1513+14C>T
|
rs1945613813
|
|
NM_001040716.2(PC):c.1513+6G>A
|
rs566545355
|
|
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
|
|
|
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
|
|
|
NM_001040716.2(PC):c.160C>T (p.Arg54Trp)
|
|
|
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu)
|
rs886048556
|
|
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
|
|
|
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
|
|
|
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
|
|
|
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
|
|
|
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
|
|
|
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu)
|
rs2135813970
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.1825+3A>C
|
rs1945555370
|
|
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr)
|
rs773466708
|
|
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
|
rs780759271
|
|
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
|
|
|
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly)
|
rs1565213970
|
|
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
|
|
|
NM_001040716.2(PC):c.196A>G (p.Ile66Val)
|
rs1409511654
|
|
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
|
|
|
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
|
|
|
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
|
|
|
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
|
rs1945464815
|
|
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
|
rs1945464671
|
|
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
|
|
|
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
|
|
|
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
|
|
|
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
|
|
|
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
|
|
|
NM_001040716.2(PC):c.2223+4C>A
|
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
NM_001040716.2(PC):c.2227A>G (p.Met743Val)
|
rs1591118129
|
|
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
|
rs1945442151
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
|
|
|
NM_001040716.2(PC):c.2292C>G (p.Pro764=)
|
rs757918962
|
|
NM_001040716.2(PC):c.229C>T (p.Arg77Trp)
|
rs928225163
|
|
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn)
|
rs1453225876
|
|
NM_001040716.2(PC):c.2333C>T (p.Ala778Val)
|
rs1272540070
|
|
NM_001040716.2(PC):c.2338G>T (p.Val780Leu)
|
rs572440768
|
|
NM_001040716.2(PC):c.2342C>T (p.Ala781Val)
|
rs2135799932
|
|
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
|
|
|
NM_001040716.2(PC):c.2423C>A (p.Pro808His)
|
rs1591116883
|
|
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
|
rs1235315835
|
|
NM_001040716.2(PC):c.2482A>G (p.Met828Val)
|
|
|
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
|
|
|
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile)
|
rs1945409904
|
|
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
|
|
|
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu)
|
rs1270012365
|
|
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
|
|
|
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
|
rs1946744013
|
|
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
|
|
|
NM_001040716.2(PC):c.259G>C (p.Gly87Arg)
|
rs770055702
|
|
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
|
|
|
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup)
|
rs1555015012
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
|
|
|
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
|
|
|
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
|
|
|
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp)
|
rs1006994126
|
|
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp)
|
rs886048555
|
|
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del)
|
rs1555014903
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
NM_001040716.2(PC):c.2723C>T (p.Thr908Met)
|
rs796052032
|
|
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
|
|
|
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
|
|
|
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys)
|
rs2135791974
|
|
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
|
|
|
NM_001040716.2(PC):c.2974_2976del (p.Lys992del)
|
rs751225998
|
|
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn)
|
rs368895283
|
|
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
|
|
|
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
|
|
|
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
|
rs1289376036
|
|
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
|
|
|
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu)
|
rs1470869408
|
|
NM_001040716.2(PC):c.316G>T (p.Ala106Ser)
|
rs868221703
|
|
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
|
|
|
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
|
|
|
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del)
|
rs1555014068
|
|
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
|
|
|
NM_001040716.2(PC):c.3288+4T>C
|
|
|
NM_001040716.2(PC):c.3288+5T>C
|
rs1945323792
|
|
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu)
|
rs2135783978
|
|
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val)
|
rs200217380
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
|
rs1298569042
|
|
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
|
rs1945302855
|
|
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
|
|
|
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
|
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
|
|
|
NM_001040716.2(PC):c.410G>T (p.Arg137Leu)
|
rs772619045
|
|
NM_001040716.2(PC):c.439C>G (p.Arg147Gly)
|
rs529087425
|
|
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
|
|
|
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
|
|
|
NM_001040716.2(PC):c.485C>T (p.Ala162Val)
|
rs752714051
|
|
NM_001040716.2(PC):c.488-6C>A
|
|
|
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
|
|
|
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
|
|
|
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
|
rs1946713663
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
|
|
|
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
|
|
|
NM_001040716.2(PC):c.751+4A>G
|
rs2135937467
|
|
NM_001040716.2(PC):c.75C>T (p.Ala25=)
|
rs886048557
|
|
NM_001040716.2(PC):c.77C>T (p.Ser26Phe)
|
rs2135943988
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001040716.2(PC):c.820G>A (p.Val274Met)
|
|
|
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
|
rs752585997
|
|
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
|
|
|
NM_001040716.2(PC):c.92G>A (p.Arg31His)
|
|
|
NM_001040716.2(PC):c.952G>A (p.Gly318Ser)
|
|
|