NM_002076.4(GNS):c.198G>A (p.Pro66=)
|
rs1147096
|
0.70681
|
NM_002076.4(GNS):c.793-68G>C
|
rs1690277
|
0.68800
|
NM_002076.4(GNS):c.*380C>T
|
rs674
|
0.63058
|
NM_002076.4(GNS):c.*2361C>G
|
rs1061743
|
0.52503
|
NM_002076.4(GNS):c.*1353G>A
|
rs1269548
|
0.51078
|
NM_002076.4(GNS):c.*269C>T
|
rs2279597
|
0.21062
|
NM_002076.4(GNS):c.363G>A (p.Lys121=)
|
rs2230291
|
0.09139
|
NM_002076.4(GNS):c.*942A>G
|
rs12309081
|
0.06453
|
NM_002076.4(GNS):c.*411G>A
|
rs11175525
|
0.06452
|
NM_002076.4(GNS):c.*3068_*3069dup
|
rs397946778
|
0.04705
|
NM_002076.4(GNS):c.*1990A>G
|
rs17100600
|
0.04306
|
NM_002076.4(GNS):c.*566A>G
|
rs17100604
|
0.04303
|
NM_002076.4(GNS):c.1650T>C (p.His550=)
|
rs2230292
|
0.03695
|
NM_002076.4(GNS):c.*1456C>T
|
rs144199387
|
0.01725
|
NM_002076.4(GNS):c.459+14T>C
|
rs78614637
|
0.01673
|
NM_002076.4(GNS):c.*599T>A
|
rs151304792
|
0.01029
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
NM_002076.4(GNS):c.1598G>A (p.Arg533His)
|
rs61743822
|
0.00929
|
NM_002076.4(GNS):c.*2751C>T
|
rs137943279
|
0.00886
|
NM_002076.4(GNS):c.*814T>C
|
rs78614043
|
0.00798
|
NM_002076.4(GNS):c.*1228C>T
|
rs115625510
|
0.00797
|
NM_002076.4(GNS):c.*1648C>T
|
rs75568735
|
0.00795
|
NM_002076.4(GNS):c.792+16A>G
|
rs148924072
|
0.00415
|
NM_002076.4(GNS):c.1026G>A (p.Gln342=)
|
rs115586725
|
0.00349
|
NM_002076.4(GNS):c.1113C>T (p.Asn371=)
|
rs116798538
|
0.00279
|
NM_002076.4(GNS):c.*2735C>T
|
rs143396704
|
0.00233
|
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala)
|
rs138790252
|
0.00079
|
NM_002076.4(GNS):c.*1681C>G
|
rs142676698
|
0.00074
|
NM_002076.4(GNS):c.*1861del
|
rs3832839
|
0.00061
|
NM_002076.4(GNS):c.876-3C>T
|
rs73323465
|
0.00045
|
NM_002076.4(GNS):c.117G>T (p.Gly39=)
|
rs371407400
|
0.00043
|
NM_002076.4(GNS):c.*152G>A
|
rs768957003
|
0.00041
|
NM_002076.4(GNS):c.*357T>C
|
rs554471490
|
0.00041
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_002076.4(GNS):c.*2301G>A
|
rs141182054
|
0.00032
|
NM_002076.4(GNS):c.468C>T (p.Ala156=)
|
rs147780685
|
0.00031
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
NM_002076.4(GNS):c.*676A>G
|
rs886049769
|
0.00025
|
NM_002076.4(GNS):c.*1759A>G
|
rs540594590
|
0.00024
|
NM_002076.4(GNS):c.*2099G>A
|
rs553360517
|
0.00024
|
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
|
rs759075764
|
0.00016
|
NM_002076.4(GNS):c.1420-11A>G
|
rs192263369
|
0.00013
|
NM_002076.4(GNS):c.*2612G>T
|
rs533328232
|
0.00012
|
NM_002076.4(GNS):c.*2843C>T
|
rs577545481
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002076.4(GNS):c.1419+8G>A
|
rs760970543
|
0.00010
|
NM_002076.4(GNS):c.49C>T (p.Arg17Cys)
|
rs574024349
|
0.00010
|
NM_002076.4(GNS):c.*2656G>A
|
rs577212739
|
0.00009
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
NM_002076.4(GNS):c.*3dup
|
rs766104697
|
0.00008
|
NM_002076.4(GNS):c.143A>G (p.Asn48Ser)
|
rs370011049
|
0.00008
|
NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys)
|
rs138355639
|
0.00008
|
NM_002076.4(GNS):c.193-9C>T
|
rs372633889
|
0.00008
|
NM_002076.4(GNS):c.223G>A (p.Gly75Arg)
|
rs371990029
|
0.00008
|
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
|
rs139536679
|
0.00008
|
NM_002076.4(GNS):c.1201-9T>C
|
rs775176361
|
0.00007
|
NM_002076.4(GNS):c.539A>G (p.Lys180Arg)
|
rs745307029
|
0.00007
|
NM_002076.4(GNS):c.156C>T (p.Leu52=)
|
rs951936514
|
0.00006
|
NM_002076.4(GNS):c.30G>A (p.Arg10=)
|
rs753033310
|
0.00006
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
NM_002076.4(GNS):c.*2278A>C
|
rs1036841344
|
0.00005
|
NM_002076.4(GNS):c.*2844G>A
|
rs534118009
|
0.00005
|
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
|
rs202228620
|
0.00005
|
NM_002076.4(GNS):c.525+14G>A
|
rs774916170
|
0.00005
|
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
|
rs575544204
|
0.00005
|
NM_002076.4(GNS):c.*2447G>A
|
rs567930294
|
0.00004
|
NM_002076.4(GNS):c.*319C>T
|
rs368523842
|
0.00004
|
NM_002076.4(GNS):c.*71T>C
|
rs983471422
|
0.00004
|
NM_002076.4(GNS):c.1309-12A>G
|
rs376318831
|
0.00004
|
NM_002076.4(GNS):c.1420-9G>A
|
rs980133508
|
0.00004
|
NM_002076.4(GNS):c.311C>T (p.Pro104Leu)
|
rs1236473511
|
0.00004
|
NM_002076.4(GNS):c.325G>A (p.Val109Ile)
|
rs777717534
|
0.00004
|
NM_002076.4(GNS):c.415A>G (p.Met139Val)
|
rs142588770
|
0.00004
|
NM_002076.4(GNS):c.42C>T (p.Gly14=)
|
rs925458413
|
0.00004
|
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)
|
rs140270805
|
0.00004
|
NM_002076.4(GNS):c.77T>C (p.Leu26Pro)
|
rs899951878
|
0.00004
|
NM_002076.4(GNS):c.793-9A>G
|
rs780164582
|
0.00004
|
NM_002076.4(GNS):c.875+16A>G
|
rs375692142
|
0.00004
|
NM_002076.4(GNS):c.886C>G (p.Leu296Val)
|
rs755801592
|
0.00004
|
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
|
rs888774422
|
0.00004
|
NM_002076.4(GNS):c.*2032T>A
|
rs886049763
|
0.00003
|
NM_002076.4(GNS):c.*2560T>G
|
rs886049762
|
0.00003
|
NM_002076.4(GNS):c.*2625G>A
|
rs1468841522
|
0.00003
|
NM_002076.4(GNS):c.*2783C>T
|
rs573404754
|
0.00003
|
NM_002076.4(GNS):c.*425G>A
|
rs141736156
|
0.00003
|
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)
|
rs138335335
|
0.00003
|
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)
|
rs755021062
|
0.00003
|
NM_002076.4(GNS):c.1308+2T>C
|
rs750645480
|
0.00003
|
NM_002076.4(GNS):c.676T>G (p.Phe226Val)
|
rs1283873163
|
0.00003
|
NM_002076.4(GNS):c.708G>A (p.Ser236=)
|
rs775884527
|
0.00003
|
NM_002076.4(GNS):c.792+12C>T
|
rs749901174
|
0.00003
|
NM_002076.4(GNS):c.*2740G>A
|
rs886049761
|
0.00002
|
NM_002076.4(GNS):c.1189T>C (p.Leu397=)
|
rs773031063
|
0.00002
|
NM_002076.4(GNS):c.1200+7A>G
|
rs776624874
|
0.00002
|
NM_002076.4(GNS):c.1317C>T (p.Phe439=)
|
rs780470761
|
0.00002
|
NM_002076.4(GNS):c.148G>A (p.Val50Met)
|
rs776163695
|
0.00002
|
NM_002076.4(GNS):c.1506G>A (p.Lys502=)
|
rs748361347
|
0.00002
|
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)
|
rs771940326
|
0.00002
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
NM_002076.4(GNS):c.306G>A (p.Lys102=)
|
rs746164753
|
0.00002
|
NM_002076.4(GNS):c.463G>A (p.Gly155Arg)
|
rs1402191110
|
0.00002
|
NM_002076.4(GNS):c.526-7T>C
|
rs1179720847
|
0.00002
|
NM_002076.4(GNS):c.578G>A (p.Arg193Gln)
|
rs368261202
|
0.00002
|
NM_002076.4(GNS):c.687C>T (p.Ile229=)
|
rs767396748
|
0.00002
|
NM_002076.4(GNS):c.895G>A (p.Val299Ile)
|
rs1327778268
|
0.00002
|
NM_002076.4(GNS):c.995-15G>A
|
rs200521875
|
0.00002
|
NM_002076.4(GNS):c.9C>T (p.Leu3=)
|
rs1479493439
|
0.00002
|
NM_002076.3(GNS):c.-161T>C
|
rs769119181
|
0.00001
|
NM_002076.4(GNS):c.*1435G>A
|
rs547333907
|
0.00001
|
NM_002076.4(GNS):c.*2571T>C
|
rs995044057
|
0.00001
|
NM_002076.4(GNS):c.*2699G>C
|
rs867153534
|
0.00001
|
NM_002076.4(GNS):c.*334C>T
|
rs886049771
|
0.00001
|
NM_002076.4(GNS):c.*764G>A
|
rs886049767
|
0.00001
|
NM_002076.4(GNS):c.*826G>A
|
rs886049766
|
0.00001
|
NM_002076.4(GNS):c.*86A>T
|
rs1868866389
|
0.00001
|
NM_002076.4(GNS):c.*985A>G
|
rs531715804
|
0.00001
|
NM_002076.4(GNS):c.-83G>C
|
rs1290374156
|
0.00001
|
NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs)
|
rs1470760407
|
0.00001
|
NM_002076.4(GNS):c.1071T>C (p.Pro357=)
|
rs779476775
|
0.00001
|
NM_002076.4(GNS):c.1089G>A (p.Gln363=)
|
rs369866661
|
0.00001
|
NM_002076.4(GNS):c.1099-5C>T
|
rs1277798355
|
0.00001
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
|
rs756633427
|
0.00001
|
NM_002076.4(GNS):c.1152C>T (p.Tyr384=)
|
rs753238075
|
0.00001
|
NM_002076.4(GNS):c.1164G>A (p.Lys388=)
|
rs1263703439
|
0.00001
|
NM_002076.4(GNS):c.1197T>C (p.Ile399=)
|
rs1454694759
|
0.00001
|
NM_002076.4(GNS):c.1200+12G>A
|
rs771806213
|
0.00001
|
NM_002076.4(GNS):c.1200+8T>G
|
rs768052687
|
0.00001
|
NM_002076.4(GNS):c.1201-7T>C
|
rs771699876
|
0.00001
|
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser)
|
rs1364524364
|
0.00001
|
NM_002076.4(GNS):c.1227A>T (p.Arg409=)
|
rs1417176156
|
0.00001
|
NM_002076.4(GNS):c.1251A>G (p.Gln417=)
|
rs1324161117
|
0.00001
|
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)
|
rs1177531995
|
0.00001
|
NM_002076.4(GNS):c.1262G>A (p.Arg421His)
|
rs774084161
|
0.00001
|
NM_002076.4(GNS):c.1266C>T (p.Asn422=)
|
rs770070081
|
0.00001
|
NM_002076.4(GNS):c.12G>A (p.Leu4=)
|
rs1252707980
|
0.00001
|
NM_002076.4(GNS):c.1302C>A (p.Gly434=)
|
rs747491925
|
0.00001
|
NM_002076.4(GNS):c.1302C>T (p.Gly434=)
|
rs747491925
|
0.00001
|
NM_002076.4(GNS):c.1321G>A (p.Asp441Asn)
|
rs1345511245
|
0.00001
|
NM_002076.4(GNS):c.1329A>G (p.Val443=)
|
rs745896040
|
0.00001
|
NM_002076.4(GNS):c.1368G>A (p.Arg456=)
|
rs201966474
|
0.00001
|
NM_002076.4(GNS):c.1381T>C (p.Leu461=)
|
rs765783864
|
0.00001
|
NM_002076.4(GNS):c.1420-7C>T
|
rs764819766
|
0.00001
|
NM_002076.4(GNS):c.1452C>T (p.Asp484=)
|
rs1252524521
|
0.00001
|
NM_002076.4(GNS):c.150G>A (p.Val50=)
|
rs1260892915
|
0.00001
|
NM_002076.4(GNS):c.1512C>T (p.Asn504=)
|
rs781191329
|
0.00001
|
NM_002076.4(GNS):c.1578C>T (p.Pro526=)
|
rs753472052
|
0.00001
|
NM_002076.4(GNS):c.1597C>T (p.Arg533Cys)
|
rs1430079019
|
0.00001
|
NM_002076.4(GNS):c.1603A>G (p.Met535Val)
|
rs1320846022
|
0.00001
|
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)
|
rs768291103
|
0.00001
|
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
|
rs766615352
|
0.00001
|
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)
|
rs756752200
|
0.00001
|
NM_002076.4(GNS):c.1654C>T (p.Leu552=)
|
rs751913045
|
0.00001
|
NM_002076.4(GNS):c.1658A>G (p.Ter553Trp)
|
rs766745346
|
0.00001
|
NM_002076.4(GNS):c.16C>T (p.Leu6=)
|
rs746189087
|
0.00001
|
NM_002076.4(GNS):c.264T>C (p.Ser88=)
|
rs1869945578
|
0.00001
|
NM_002076.4(GNS):c.282C>T (p.Ser94=)
|
rs1318657728
|
0.00001
|
NM_002076.4(GNS):c.324C>T (p.His108=)
|
rs748968142
|
0.00001
|
NM_002076.4(GNS):c.337A>G (p.Thr113Ala)
|
rs886049772
|
0.00001
|
NM_002076.4(GNS):c.351C>T (p.Asn117=)
|
rs748055773
|
0.00001
|
NM_002076.4(GNS):c.355del (p.Ser119fs)
|
rs749187018
|
0.00001
|
NM_002076.4(GNS):c.381A>G (p.Gln127=)
|
rs374002057
|
0.00001
|
NM_002076.4(GNS):c.459+8G>A
|
rs199789530
|
0.00001
|
NM_002076.4(GNS):c.45C>T (p.Ser15=)
|
rs749771186
|
0.00001
|
NM_002076.4(GNS):c.492C>T (p.His164=)
|
rs773419903
|
0.00001
|
NM_002076.4(GNS):c.525+10T>C
|
rs375745502
|
0.00001
|
NM_002076.4(GNS):c.528A>G (p.Glu176=)
|
rs771492549
|
0.00001
|
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
|
rs1435047831
|
0.00001
|
NM_002076.4(GNS):c.552C>T (p.Tyr184=)
|
rs375799237
|
0.00001
|
NM_002076.4(GNS):c.558G>A (p.Leu186=)
|
rs200414276
|
0.00001
|
NM_002076.4(GNS):c.57G>A (p.Leu19=)
|
rs1332308897
|
0.00001
|
NM_002076.4(GNS):c.625-17A>G
|
rs950921191
|
0.00001
|
NM_002076.4(GNS):c.653A>G (p.Tyr218Cys)
|
rs777980972
|
0.00001
|
NM_002076.4(GNS):c.682A>G (p.Met228Val)
|
rs1338194520
|
0.00001
|
NM_002076.4(GNS):c.699G>A (p.Ala233=)
|
rs762468558
|
0.00001
|
NM_002076.4(GNS):c.73G>A (p.Ala25Thr)
|
rs540537083
|
0.00001
|
NM_002076.4(GNS):c.746A>C (p.Gln249Pro)
|
rs756406058
|
0.00001
|
NM_002076.4(GNS):c.850T>C (p.Phe284Leu)
|
rs978501400
|
0.00001
|
NM_002076.4(GNS):c.875+2del
|
rs1219484230
|
0.00001
|
NM_002076.4(GNS):c.875+9T>C
|
rs774743479
|
0.00001
|
NM_002076.4(GNS):c.942G>A (p.Gly314=)
|
rs376505567
|
0.00001
|
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)
|
rs778927646
|
0.00001
|
NM_002076.4(GNS):c.9C>G (p.Leu3=)
|
rs1479493439
|
0.00001
|
NC_000012.11:g.(?_65110521)_(65153056_?)dup
|
|
|
NC_000012.11:g.(?_65133151)_(65146547_?)dup
|
|
|
NC_000012.12:g.(?_64739371)_(64747928_?)del
|
|
|
NC_000012.12:g.(?_64747692)_(64747938_?)del
|
|
|
NM_002076.3(GNS):c.-168dupC
|
rs145477737
|
|
NM_002076.4(GNS):c.*1580A>G
|
rs886049764
|
|
NM_002076.4(GNS):c.*1809T>C
|
rs1868815358
|
|
NM_002076.4(GNS):c.*1977A>G
|
rs1868809897
|
|
NM_002076.4(GNS):c.*2146G>A
|
rs900823217
|
|
NM_002076.4(GNS):c.*2406A>G
|
rs1868795917
|
|
NM_002076.4(GNS):c.*2489T>C
|
rs529418480
|
|
NM_002076.4(GNS):c.*2611dup
|
rs201933913
|
|
NM_002076.4(GNS):c.*2787del
|
rs886049760
|
|
NM_002076.4(GNS):c.*37G>T
|
rs142001509
|
|
NM_002076.4(GNS):c.*574G>A
|
rs886049770
|
|
NM_002076.4(GNS):c.*699G>C
|
rs1868848563
|
|
NM_002076.4(GNS):c.*734A>G
|
rs886049768
|
|
NM_002076.4(GNS):c.*846C>T
|
rs886049765
|
|
NM_002076.4(GNS):c.-120A>G
|
rs778270030
|
|
NM_002076.4(GNS):c.-39TCCCG[4]
|
rs559286032
|
|
NM_002076.4(GNS):c.1008G>C (p.Leu336Phe)
|
|
|
NM_002076.4(GNS):c.1017C>T (p.Asp339=)
|
|
|
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
|
|
|
NM_002076.4(GNS):c.1024C>G (p.Gln342Glu)
|
|
|
NM_002076.4(GNS):c.1027C>T (p.Leu343=)
|
rs2136244455
|
|
NM_002076.4(GNS):c.1029G>A (p.Leu343=)
|
rs371914257
|
|
NM_002076.4(GNS):c.1032T>C (p.Tyr344=)
|
|
|
NM_002076.4(GNS):c.103C>T (p.Leu35=)
|
|
|
NM_002076.4(GNS):c.1048G>A (p.Val350Ile)
|
|
|
NM_002076.4(GNS):c.1056G>A (p.Leu352=)
|
rs754626354
|
|
NM_002076.4(GNS):c.1056G>C (p.Leu352=)
|
|
|
NM_002076.4(GNS):c.105G>A (p.Leu35=)
|
|
|
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)
|
rs119461974
|
|
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)
|
rs751200375
|
|
NM_002076.4(GNS):c.1068A>G (p.Gly356=)
|
|
|
NM_002076.4(GNS):c.1070C>T (p.Pro357Leu)
|
|
|
NM_002076.4(GNS):c.1078A>G (p.Lys360Glu)
|
|
|
NM_002076.4(GNS):c.1082C>T (p.Pro361Leu)
|
|
|
NM_002076.4(GNS):c.108G>T (p.Gly36=)
|
rs1870387135
|
|
NM_002076.4(GNS):c.1091C>T (p.Thr364Ile)
|
|
|
NM_002076.4(GNS):c.1098+17C>G
|
|
|
NM_002076.4(GNS):c.1098+19G>A
|
|
|
NM_002076.4(GNS):c.1098+1G>A
|
|
|
NM_002076.4(GNS):c.1098+3A>G
|
|
|
NM_002076.4(GNS):c.1098+7G>A
|
rs945038474
|
|
NM_002076.4(GNS):c.1099-10A>C
|
rs2136240601
|
|
NM_002076.4(GNS):c.1099-10A>G
|
rs2136240601
|
|
NM_002076.4(GNS):c.1099-13C>T
|
|
|
NM_002076.4(GNS):c.1099-17T>C
|
rs2136240606
|
|
NM_002076.4(GNS):c.1099-19T>C
|
|
|
NM_002076.4(GNS):c.1099-4A>G
|
|
|
NM_002076.4(GNS):c.1099-4A>T
|
rs1221669137
|
|
NM_002076.4(GNS):c.1099-6T>C
|
rs2136240597
|
|
NM_002076.4(GNS):c.109G>C (p.Val37Leu)
|
|
|
NM_002076.4(GNS):c.1102C>T (p.Leu368=)
|
|
|
NM_002076.4(GNS):c.1104G>C (p.Leu368=)
|
rs766168524
|
|
NM_002076.4(GNS):c.1105G>A (p.Val369Ile)
|
|
|
NM_002076.4(GNS):c.1110C>G (p.Ala370=)
|
|
|
NM_002076.4(GNS):c.1110C>T (p.Ala370=)
|
|
|
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu)
|
rs2136240576
|
|
NM_002076.4(GNS):c.111C>A (p.Val37=)
|
rs1156605468
|
|
NM_002076.4(GNS):c.1120T>A (p.Leu374Met)
|
|
|
NM_002076.4(GNS):c.1122G>A (p.Leu374=)
|
|
|
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg)
|
|
|
NM_002076.4(GNS):c.1131T>C (p.Thr377=)
|
|
|
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)
|
rs483352899
|
|
NM_002076.4(GNS):c.1140C>T (p.Asp380=)
|
rs749616788
|
|
NM_002076.4(GNS):c.1143T>A (p.Ile381=)
|
|
|
NM_002076.4(GNS):c.1143T>C (p.Ile381=)
|
|
|
NM_002076.4(GNS):c.1146T>A (p.Ala382=)
|
rs2136240550
|
|
NM_002076.4(GNS):c.115G>A (p.Gly39Arg)
|
|
|
NM_002076.4(GNS):c.1160A>G (p.Asn387Ser)
|
|
|
NM_002076.4(GNS):c.1161T>G (p.Asn387Lys)
|
rs2136240532
|
|
NM_002076.4(GNS):c.1166C>T (p.Thr389Ile)
|
rs944030718
|
|
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)
|
rs119461975
|
|
NM_002076.4(GNS):c.1169del (p.Gln390fs)
|
rs483352898
|
|
NM_002076.4(GNS):c.1179G>A (p.Gly393=)
|
rs2136240521
|
|
NM_002076.4(GNS):c.118del (p.Val40fs)
|
rs2136259376
|
|
NM_002076.4(GNS):c.1194C>G (p.Pro398=)
|
|
|
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer)
|
rs1869297835
|
|
NM_002076.4(GNS):c.1200+11C>A
|
rs775301317
|
|
NM_002076.4(GNS):c.1200+11C>T
|
|
|
NM_002076.4(GNS):c.1200+14C>T
|
|
|
NM_002076.4(GNS):c.1200+15C>G
|
|
|
NM_002076.4(GNS):c.1200+15C>T
|
|
|
NM_002076.4(GNS):c.1200+18A>G
|
|
|
NM_002076.4(GNS):c.1200+1G>T
|
|
|
NM_002076.4(GNS):c.1200+2T>A
|
rs2136240508
|
|
NM_002076.4(GNS):c.1200+5_1200+7del
|
rs2136240506
|
|
NM_002076.4(GNS):c.1200+8T>C
|
|
|
NM_002076.4(GNS):c.1201-10T>C
|
|
|
NM_002076.4(GNS):c.1201-11C>T
|
|
|
NM_002076.4(GNS):c.1201-11_1201-10del
|
|
|
NM_002076.4(GNS):c.1201-12T>C
|
|
|
NM_002076.4(GNS):c.1201-13C>T
|
|
|
NM_002076.4(GNS):c.1201-17C>T
|
|
|
NM_002076.4(GNS):c.1201-4C>G
|
|
|
NM_002076.4(GNS):c.1201-4C>T
|
rs2136237942
|
|
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly)
|
|
|
NM_002076.4(GNS):c.1212T>C (p.Ser404=)
|
rs2136237933
|
|
NM_002076.4(GNS):c.1215C>T (p.Asn405=)
|
rs1425989538
|
|
NM_002076.4(GNS):c.1216T>C (p.Leu406=)
|
|
|
NM_002076.4(GNS):c.1221C>T (p.Thr407=)
|
rs773323544
|
|
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
|
|
|
NM_002076.4(GNS):c.1226dup (p.Ser410fs)
|
rs483352900
|
|
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu)
|
|
|
NM_002076.4(GNS):c.1231G>C (p.Asp411His)
|
|
|
NM_002076.4(GNS):c.1231dup (p.Asp411fs)
|
|
|
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala)
|
|
|
NM_002076.4(GNS):c.1234G>A (p.Val412Ile)
|
|
|
NM_002076.4(GNS):c.1245A>G (p.Glu415=)
|
|
|
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter)
|
rs2136237909
|
|
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp)
|
|
|
NM_002076.4(GNS):c.1267G>A (p.Val423Ile)
|
|
|
NM_002076.4(GNS):c.1269C>T (p.Val423=)
|
|
|
NM_002076.4(GNS):c.1281A>G (p.Thr427=)
|
|
|
NM_002076.4(GNS):c.1305A>G (p.Val435=)
|
rs1259126055
|
|
NM_002076.4(GNS):c.1308+14T>G
|
|
|
NM_002076.4(GNS):c.1308+15del
|
|
|
NM_002076.4(GNS):c.1308+7A>C
|
|
|
NM_002076.4(GNS):c.1308+8A>T
|
|
|
NM_002076.4(GNS):c.1308+9T>C
|
|
|
NM_002076.4(GNS):c.1309-15G>T
|
|
|
NM_002076.4(GNS):c.1309-15del
|
|
|
NM_002076.4(GNS):c.1309-16T>C
|
|
|
NM_002076.4(GNS):c.1309-20C>T
|
|
|
NM_002076.4(GNS):c.1309-4A>T
|
|
|
NM_002076.4(GNS):c.1309-6C>G
|
rs1592491918
|
|
NM_002076.4(GNS):c.1309-6C>T
|
rs1592491918
|
|
NM_002076.4(GNS):c.1309-8C>A
|
|
|
NM_002076.4(GNS):c.1309-9T>C
|
rs1869033080
|
|
NM_002076.4(GNS):c.1311A>G (p.Gln437=)
|
|
|
NM_002076.4(GNS):c.1320A>G (p.Pro440=)
|
|
|
NM_002076.4(GNS):c.1323C>G (p.Asp441Glu)
|
|
|
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr)
|
|
|
NM_002076.4(GNS):c.1326T>C (p.Cys442=)
|
|
|
NM_002076.4(GNS):c.1327G>A (p.Val443Ile)
|
|
|
NM_002076.4(GNS):c.132C>G (p.Thr44=)
|
rs1592514574
|
|
NM_002076.4(GNS):c.133C>A (p.Arg45=)
|
rs1870385540
|
|
NM_002076.4(GNS):c.1341T>G (p.Ala447=)
|
|
|
NM_002076.4(GNS):c.1353C>A (p.Thr451=)
|
rs749445364
|
|
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile)
|
rs2136237284
|
|
NM_002076.4(GNS):c.1371A>C (p.Thr457=)
|
|
|
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)
|
|
|
NM_002076.4(GNS):c.1377A>G (p.Ser459=)
|
|
|
NM_002076.4(GNS):c.1380A>G (p.Ala460=)
|
|
|
NM_002076.4(GNS):c.138G>T (p.Arg46Ser)
|
|
|
NM_002076.4(GNS):c.1398T>C (p.Tyr466=)
|
rs2136237264
|
|
NM_002076.4(GNS):c.1401C>T (p.Cys467=)
|
|
|
NM_002076.4(GNS):c.140C>T (p.Pro47Leu)
|
|
|
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter)
|
rs2136237257
|
|
NM_002076.4(GNS):c.1414dup (p.Gln472fs)
|
|
|
NM_002076.4(GNS):c.1419+14C>T
|
|
|
NM_002076.4(GNS):c.1419+17C>T
|
|
|
NM_002076.4(GNS):c.1419+20G>A
|
|
|
NM_002076.4(GNS):c.1419+7G>A
|
|
|
NM_002076.4(GNS):c.1419+7G>C
|
|
|
NM_002076.4(GNS):c.1420-13T>C
|
|
|
NM_002076.4(GNS):c.1420-16C>G
|
|
|
NM_002076.4(GNS):c.1420-16C>T
|
|
|
NM_002076.4(GNS):c.1420-19A>C
|
|
|
NM_002076.4(GNS):c.1420-19A>T
|
rs2136236660
|
|
NM_002076.4(GNS):c.1420-2A>G
|
rs2136236649
|
|
NM_002076.4(GNS):c.1420-6C>T
|
rs2136236651
|
|
NM_002076.4(GNS):c.1424T>C (p.Phe475Ser)
|
|
|
NM_002076.4(GNS):c.142A>C (p.Asn48His)
|
|
|
NM_002076.4(GNS):c.1433T>G (p.Val478Gly)
|
|
|
NM_002076.4(GNS):c.1441C>T (p.Leu481=)
|
rs2136236637
|
|
NM_002076.4(GNS):c.1446T>A (p.Thr482=)
|
|
|
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu)
|
rs1163229693
|
|
NM_002076.4(GNS):c.144C>T (p.Asn48=)
|
rs2136259327
|
|
NM_002076.4(GNS):c.1455A>G (p.Pro485=)
|
|
|
NM_002076.4(GNS):c.1458C>T (p.Asp486=)
|
rs2136236622
|
|
NM_002076.4(GNS):c.1459C>T (p.Gln487Ter)
|
rs2136236619
|
|
NM_002076.4(GNS):c.145G>C (p.Val49Leu)
|
|
|
NM_002076.4(GNS):c.1471A>G (p.Ile491Val)
|
|
|
NM_002076.4(GNS):c.1473T>A (p.Ile491=)
|
rs2136236609
|
|
NM_002076.4(GNS):c.147G>A (p.Val49=)
|
|
|
NM_002076.4(GNS):c.1488C>T (p.Asp496=)
|
|
|
NM_002076.4(GNS):c.148dup (p.Val50fs)
|
rs2136259310
|
|
NM_002076.4(GNS):c.1491A>G (p.Pro497=)
|
rs2136236596
|
|
NM_002076.4(GNS):c.1503A>C (p.Gly501=)
|
|
|
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp)
|
|
|
NM_002076.4(GNS):c.1518G>A (p.Arg506=)
|
rs1000381159
|
|
NM_002076.4(GNS):c.1518G>T (p.Arg506=)
|
rs1000381159
|
|
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe)
|
|
|
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly)
|
|
|
NM_002076.4(GNS):c.1539T>C (p.Cys513=)
|
|
|
NM_002076.4(GNS):c.153G>C (p.Leu51=)
|
|
|
NM_002076.4(GNS):c.1554T>A (p.Cys518Ter)
|
|
|
NM_002076.4(GNS):c.1555C>T (p.Arg519Cys)
|
|
|
NM_002076.4(GNS):c.1556G>A (p.Arg519His)
|
|
|
NM_002076.4(GNS):c.1560T>G (p.Thr520=)
|
|
|
NM_002076.4(GNS):c.156C>G (p.Leu52=)
|
rs951936514
|
|
NM_002076.4(GNS):c.1571T>C (p.Phe524Ser)
|
|
|
NM_002076.4(GNS):c.1575C>T (p.Asp525=)
|
rs2136236573
|
|
NM_002076.4(GNS):c.1578C>A (p.Pro526=)
|
|
|
NM_002076.4(GNS):c.1578C>G (p.Pro526=)
|
|
|
NM_002076.4(GNS):c.1580+10C>T
|
rs2136236567
|
|
NM_002076.4(GNS):c.1580+12T>G
|
|
|
NM_002076.4(GNS):c.1580+13T>C
|
|
|
NM_002076.4(GNS):c.1580+17T>C
|
rs2136236562
|
|
NM_002076.4(GNS):c.1580+9C>G
|
rs1429111979
|
|
NM_002076.4(GNS):c.1581-14T>C
|
|
|
NM_002076.4(GNS):c.1581-15G>A
|
|
|
NM_002076.4(GNS):c.1581-1G>A
|
rs1868873740
|
|
NM_002076.4(GNS):c.1581-20A>G
|
|
|
NM_002076.4(GNS):c.1581-5C>G
|
|
|
NM_002076.4(GNS):c.1584C>T (p.Tyr528=)
|
|
|
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)
|
|
|
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)
|
|
|
NM_002076.4(GNS):c.1596C>T (p.Pro532=)
|
|
|
NM_002076.4(GNS):c.159C>T (p.Leu53=)
|
rs2136259284
|
|
NM_002076.4(GNS):c.15T>C (p.Pro5=)
|
|
|
NM_002076.4(GNS):c.1600C>T (p.Leu534Phe)
|
|
|
NM_002076.4(GNS):c.1609A>C (p.Ser537Arg)
|
rs776925981
|
|
NM_002076.4(GNS):c.1609A>G (p.Ser537Gly)
|
|
|
NM_002076.4(GNS):c.1617C>T (p.Arg539=)
|
rs1592489447
|
|
NM_002076.4(GNS):c.1621A>G (p.Ser541Gly)
|
|
|
NM_002076.4(GNS):c.1623T>C (p.Ser541=)
|
rs2136235293
|
|
NM_002076.4(GNS):c.1626C>T (p.Val542=)
|
|
|
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)
|
rs763232728
|
|
NM_002076.4(GNS):c.1629G>A (p.Arg543=)
|
rs778448292
|
|
NM_002076.4(GNS):c.162G>C (p.Thr54=)
|
|
|
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)
|
|
|
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)
|
|
|
NM_002076.4(GNS):c.1656G>A (p.Leu552=)
|
rs1382653749
|
|
NM_002076.4(GNS):c.165C>T (p.Asp55=)
|
rs1345914923
|
|
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
|
rs746189087
|
|
NM_002076.4(GNS):c.174C>T (p.Asp58=)
|
|
|
NM_002076.4(GNS):c.181C>T (p.Leu61Phe)
|
|
|
NM_002076.4(GNS):c.183C>G (p.Leu61=)
|
|
|
NM_002076.4(GNS):c.187G>T (p.Gly63Cys)
|
|
|
NM_002076.4(GNS):c.18A>G (p.Leu6=)
|
rs2136259594
|
|
NM_002076.4(GNS):c.192+10C>T
|
|
|
NM_002076.4(GNS):c.192+10_192+11del
|
rs1592514466
|
|
NM_002076.4(GNS):c.192+12G>T
|
rs1870381062
|
|
NM_002076.4(GNS):c.192+15T>A
|
|
|
NM_002076.4(GNS):c.192+16C>T
|
|
|
NM_002076.4(GNS):c.192+19C>T
|
rs1870380285
|
|
NM_002076.4(GNS):c.192+7_192+8del
|
|
|
NM_002076.4(GNS):c.192+8T>A
|
|
|
NM_002076.4(GNS):c.192+8T>C
|
rs2136259214
|
|
NM_002076.4(GNS):c.193-10_193-7del
|
|
|
NM_002076.4(GNS):c.193-13C>T
|
|
|
NM_002076.4(GNS):c.193-15T>G
|
|
|
NM_002076.4(GNS):c.193-7T>C
|
|
|
NM_002076.4(GNS):c.198G>T (p.Pro66=)
|
rs1147096
|
|
NM_002076.4(GNS):c.201A>G (p.Leu67=)
|
|
|
NM_002076.4(GNS):c.214_220del (p.Ala72fs)
|
rs759378094
|
|
NM_002076.4(GNS):c.215C>G (p.Ala72Gly)
|
|
|
NM_002076.4(GNS):c.219C>A (p.Leu73=)
|
rs376829383
|
|
NM_002076.4(GNS):c.222C>A (p.Ile74=)
|
|
|
NM_002076.4(GNS):c.222C>G (p.Ile74Met)
|
|
|
NM_002076.4(GNS):c.222C>T (p.Ile74=)
|
rs1375026446
|
|
NM_002076.4(GNS):c.227A>G (p.Glu76Gly)
|
|
|
NM_002076.4(GNS):c.229A>G (p.Met77Val)
|
rs763723151
|
|
NM_002076.4(GNS):c.236_252+8del
|
rs2136253236
|
|
NM_002076.4(GNS):c.23del (p.Pro8fs)
|
rs2136259586
|
|
NM_002076.4(GNS):c.246C>T (p.Ser82=)
|
rs2136253254
|
|
NM_002076.4(GNS):c.246del (p.Ser83fs)
|
|
|
NM_002076.4(GNS):c.24A>G (p.Pro8=)
|
rs2136259580
|
|
NM_002076.4(GNS):c.252+1G>T
|
rs368414819
|
|
NM_002076.4(GNS):c.252+20C>G
|
|
|
NM_002076.4(GNS):c.252+20C>T
|
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|
NM_002076.4(GNS):c.253-11T>C
|
rs557641309
|
|
NM_002076.4(GNS):c.253-11T>G
|
|
|
NM_002076.4(GNS):c.253-15del
|
|
|
NM_002076.4(GNS):c.253-17C>T
|
|
|
NM_002076.4(GNS):c.253-5T>C
|
|
|
NM_002076.4(GNS):c.253-6T>C
|
|
|
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys)
|
|
|
NM_002076.4(GNS):c.255T>C (p.Tyr85=)
|
rs765701552
|
|
NM_002076.4(GNS):c.255T>G (p.Tyr85Ter)
|
|
|
NM_002076.4(GNS):c.257_258del (p.Val86fs)
|
|
|
NM_002076.4(GNS):c.270C>T (p.Leu90=)
|
|
|
NM_002076.4(GNS):c.276C>T (p.Cys92=)
|
|
|
NM_002076.4(GNS):c.279C>T (p.Pro93=)
|
rs1592506570
|
|
NM_002076.4(GNS):c.285A>T (p.Arg95Ser)
|
|
|
NM_002076.4(GNS):c.286_287del (p.Ala96fs)
|
|
|
NM_002076.4(GNS):c.294C>T (p.Ile98=)
|
|
|
NM_002076.4(GNS):c.295C>T (p.Leu99=)
|
|
|
NM_002076.4(GNS):c.297G>A (p.Leu99=)
|
rs1565627083
|
|
NM_002076.4(GNS):c.300A>G (p.Thr100=)
|
rs370542872
|
|
NM_002076.4(GNS):c.30G>T (p.Arg10=)
|
|
|
NM_002076.4(GNS):c.320_326del (p.His107fs)
|
|
|
NM_002076.4(GNS):c.321T>C (p.His107=)
|
|
|
NM_002076.4(GNS):c.322C>T (p.His108Tyr)
|
|
|
NM_002076.4(GNS):c.327T>A (p.Val109=)
|
|
|
NM_002076.4(GNS):c.333C>G (p.Asn111Lys)
|
|
|
NM_002076.4(GNS):c.339T>A (p.Thr113=)
|
rs1869942986
|
|
NM_002076.4(GNS):c.345G>A (p.Glu115=)
|
|
|
NM_002076.4(GNS):c.348G>A (p.Gly116=)
|
|
|
NM_002076.4(GNS):c.34C>T (p.Arg12Trp)
|
|
|
NM_002076.4(GNS):c.359G>A (p.Ser120Asn)
|
|
|
NM_002076.4(GNS):c.35G>A (p.Arg12Gln)
|
|
|
NM_002076.4(GNS):c.360T>C (p.Ser120=)
|
rs2136249902
|
|
NM_002076.4(GNS):c.361A>G (p.Lys121Glu)
|
|
|
NM_002076.4(GNS):c.365C>G (p.Ser122Cys)
|
|
|
NM_002076.4(GNS):c.372G>A (p.Gln124=)
|
|
|
NM_002076.4(GNS):c.379del (p.Gln127fs)
|
rs1869941124
|
|
NM_002076.4(GNS):c.384A>G (p.Glu128=)
|
|
|
NM_002076.4(GNS):c.386C>G (p.Pro129Arg)
|
|
|
NM_002076.4(GNS):c.386dup (p.Asn130fs)
|
rs2136249878
|
|
NM_002076.4(GNS):c.389A>G (p.Asn130Ser)
|
|
|
NM_002076.4(GNS):c.391A>T (p.Thr131Ser)
|
|
|
NM_002076.4(GNS):c.393T>A (p.Thr131=)
|
|
|
NM_002076.4(GNS):c.393T>C (p.Thr131=)
|
rs1869940104
|
|
NM_002076.4(GNS):c.393T>G (p.Thr131=)
|
|
|
NM_002076.4(GNS):c.39G>A (p.Arg13=)
|
rs956710996
|
|
NM_002076.4(GNS):c.400G>A (p.Ala134Thr)
|
|
|
NM_002076.4(GNS):c.400del (p.Ala134fs)
|
|
|
NM_002076.4(GNS):c.413C>A (p.Ser138Ter)
|
|
|
NM_002076.4(GNS):c.430A>G (p.Thr144Ala)
|
rs2136249846
|
|
NM_002076.4(GNS):c.441del (p.Lys149fs)
|
|
|
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
|
|
|
NM_002076.4(GNS):c.447A>C (p.Lys149Asn)
|
|
|
NM_002076.4(GNS):c.447A>G (p.Lys149=)
|
|
|
NM_002076.4(GNS):c.454A>G (p.Asn152Asp)
|
rs2136249836
|
|
NM_002076.4(GNS):c.459+10A>G
|
rs762826979
|
|
NM_002076.4(GNS):c.459+11T>C
|
|
|
NM_002076.4(GNS):c.459+11_459+14del
|
|
|
NM_002076.4(GNS):c.459+12G>C
|
|
|
NM_002076.4(GNS):c.459+14T>A
|
|
|
NM_002076.4(GNS):c.459+16T>G
|
|
|
NM_002076.4(GNS):c.459+18T>C
|
|
|
NM_002076.4(GNS):c.459+1_459+2del
|
rs2136249835
|
|
NM_002076.4(GNS):c.459+8G>T
|
rs199789530
|
|
NM_002076.4(GNS):c.460-10T>C
|
|
|
NM_002076.4(GNS):c.460-17C>T
|
|
|
NM_002076.4(GNS):c.460-20C>G
|
|
|
NM_002076.4(GNS):c.460-20C>T
|
|
|
NM_002076.4(GNS):c.460-4T>G
|
rs2136248910
|
|
NM_002076.4(GNS):c.460-5T>G
|
|
|
NM_002076.4(GNS):c.468C>A (p.Ala156=)
|
rs147780685
|
|
NM_002076.4(GNS):c.471A>G (p.Pro157=)
|
rs2136248890
|
|
NM_002076.4(GNS):c.472G>A (p.Asp158Asn)
|
|
|
NM_002076.4(GNS):c.477A>G (p.Ala159=)
|
|
|
NM_002076.4(GNS):c.486A>G (p.Leu162=)
|
rs766459418
|
|
NM_002076.4(GNS):c.48C>G (p.Pro16=)
|
rs2136259544
|
|
NM_002076.4(GNS):c.493G>A (p.Val165Ile)
|
|
|
NM_002076.4(GNS):c.498T>C (p.Pro166=)
|
rs2136248867
|
|
NM_002076.4(GNS):c.49dup (p.Arg17fs)
|
|
|
NM_002076.4(GNS):c.4del (p.Arg2fs)
|
rs2136259630
|
|
NM_002076.4(GNS):c.504T>C (p.Gly168=)
|
|
|
NM_002076.4(GNS):c.506G>A (p.Trp169Ter)
|
rs2136248862
|
|
NM_002076.4(GNS):c.510T>C (p.Ser170=)
|
|
|
NM_002076.4(GNS):c.513C>T (p.Tyr171=)
|
|
|
NM_002076.4(GNS):c.522C>T (p.Ala174=)
|
rs2136248842
|
|
NM_002076.4(GNS):c.525+12T>C
|
|
|
NM_002076.4(GNS):c.525+16A>T
|
|
|
NM_002076.4(GNS):c.525+19C>T
|
|
|
NM_002076.4(GNS):c.525+20T>C
|
rs1428097709
|
|
NM_002076.4(GNS):c.525G>A (p.Leu175=)
|
rs2136248840
|
|
NM_002076.4(GNS):c.526-11C>T
|
rs2136248437
|
|
NM_002076.4(GNS):c.526-16T>C
|
|
|
NM_002076.4(GNS):c.526-6del
|
rs2136248435
|
|
NM_002076.4(GNS):c.526G>T (p.Glu176Ter)
|
rs2136248430
|
|
NM_002076.4(GNS):c.537T>G (p.Ser179=)
|
|
|
NM_002076.4(GNS):c.538A>T (p.Lys180Ter)
|
rs2136248422
|
|
NM_002076.4(GNS):c.54C>T (p.His18=)
|
rs2136259524
|
|
NM_002076.4(GNS):c.554C>A (p.Thr185Asn)
|
|
|
NM_002076.4(GNS):c.55C>T (p.Leu19=)
|
rs1307936431
|
|
NM_002076.4(GNS):c.561T>A (p.Ser187=)
|
|
|
NM_002076.4(GNS):c.561T>C (p.Ser187=)
|
|
|
NM_002076.4(GNS):c.585T>C (p.His195=)
|
rs1322850279
|
|
NM_002076.4(GNS):c.587G>A (p.Gly196Asp)
|
|
|
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys)
|
|
|
NM_002076.4(GNS):c.59_66del (p.Pro20fs)
|
|
|
NM_002076.4(GNS):c.600T>C (p.Ser200=)
|
rs2136248388
|
|
NM_002076.4(GNS):c.605A>G (p.Asp202Gly)
|
rs1439386150
|
|
NM_002076.4(GNS):c.605A>T (p.Asp202Val)
|
rs1439386150
|
|
NM_002076.4(GNS):c.60C>T (p.Pro20=)
|
|
|
NM_002076.4(GNS):c.616_617del (p.Asp206fs)
|
|
|
NM_002076.4(GNS):c.624+11G>A
|
|
|
NM_002076.4(GNS):c.624+13A>G
|
|
|
NM_002076.4(GNS):c.624+14G>C
|
|
|
NM_002076.4(GNS):c.624+14G>T
|
|
|
NM_002076.4(GNS):c.624+16T>G
|
|
|
NM_002076.4(GNS):c.624+20T>A
|
|
|
NM_002076.4(GNS):c.624+7T>G
|
|
|
NM_002076.4(GNS):c.624+9C>T
|
|
|
NM_002076.4(GNS):c.625-10dup
|
rs2136247672
|
|
NM_002076.4(GNS):c.625-11T>G
|
|
|
NM_002076.4(GNS):c.625-13T>A
|
rs1195674881
|
|
NM_002076.4(GNS):c.625-16T>A
|
|
|
NM_002076.4(GNS):c.625-18A>G
|
|
|
NM_002076.4(GNS):c.625-1G>A
|
|
|
NM_002076.4(GNS):c.625-2A>G
|
rs2136247666
|
|
NM_002076.4(GNS):c.625-5G>C
|
rs2136247669
|
|
NM_002076.4(GNS):c.627T>A (p.Ala209=)
|
rs772521115
|
|
NM_002076.4(GNS):c.633C>A (p.Val211=)
|
rs367799685
|
|
NM_002076.4(GNS):c.633C>G (p.Val211=)
|
|
|
NM_002076.4(GNS):c.636C>G (p.Ser212=)
|
|
|
NM_002076.4(GNS):c.638del (p.Leu213fs)
|
rs2136247658
|
|
NM_002076.4(GNS):c.63C>T (p.Ser21=)
|
|
|
NM_002076.4(GNS):c.640G>T (p.Asp214Tyr)
|
|
|
NM_002076.4(GNS):c.645T>C (p.Phe215=)
|
rs1193339932
|
|
NM_002076.4(GNS):c.650A>G (p.Asp217Gly)
|
|
|
NM_002076.4(GNS):c.654C>A (p.Tyr218Ter)
|
rs2136247644
|
|
NM_002076.4(GNS):c.663C>T (p.Asn221=)
|
rs2136247641
|
|
NM_002076.4(GNS):c.666T>C (p.Phe222=)
|
|
|
NM_002076.4(GNS):c.667G>T (p.Glu223Ter)
|
|
|
NM_002076.4(GNS):c.669G>A (p.Glu223=)
|
|
|
NM_002076.4(GNS):c.66C>T (p.Cys22=)
|
|
|
NM_002076.4(GNS):c.672C>T (p.Pro224=)
|
|
|
NM_002076.4(GNS):c.675C>T (p.Phe225=)
|
|
|
NM_002076.4(GNS):c.679A>C (p.Met227Leu)
|
rs901034074
|
|
NM_002076.4(GNS):c.694C>T (p.Pro232Ser)
|
|
|
NM_002076.4(GNS):c.698C>T (p.Ala233Val)
|
rs766044815
|
|
NM_002076.4(GNS):c.705T>C (p.His235=)
|
rs2136247609
|
|
NM_002076.4(GNS):c.707C>T (p.Ser236Leu)
|
rs769055154
|
|
NM_002076.4(GNS):c.708G>T (p.Ser236=)
|
|
|
NM_002076.4(GNS):c.70C>G (p.Pro24Ala)
|
|
|
NM_002076.4(GNS):c.710C>T (p.Pro237Leu)
|
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_002076.4(GNS):c.717A>G (p.Thr239=)
|
rs1263645910
|
|
NM_002076.4(GNS):c.717A>T (p.Thr239=)
|
|
|
NM_002076.4(GNS):c.720T>C (p.Ala240=)
|
rs2136247587
|
|
NM_002076.4(GNS):c.720T>G (p.Ala240=)
|
rs2136247587
|
|
NM_002076.4(GNS):c.723A>C (p.Ala241=)
|
rs770999308
|
|
NM_002076.4(GNS):c.723A>G (p.Ala241=)
|
rs770999308
|
|
NM_002076.4(GNS):c.732C>A (p.Tyr244Ter)
|
rs2136247574
|
|
NM_002076.4(GNS):c.732C>G (p.Tyr244Ter)
|
|
|
NM_002076.4(GNS):c.738G>A (p.Lys246=)
|
|
|
NM_002076.4(GNS):c.739G>A (p.Ala247Thr)
|
|
|
NM_002076.4(GNS):c.744C>G (p.Phe248Leu)
|
|
|
NM_002076.4(GNS):c.744C>T (p.Phe248=)
|
|
|
NM_002076.4(GNS):c.750T>C (p.Asn250=)
|
rs752828899
|
|
NM_002076.4(GNS):c.760C>A (p.Pro254Thr)
|
|
|
NM_002076.4(GNS):c.762A>G (p.Pro254=)
|
rs2136247555
|
|
NM_002076.4(GNS):c.763A>C (p.Arg255=)
|
rs754806632
|
|
NM_002076.4(GNS):c.76C>G (p.Leu26Val)
|
|
|
NM_002076.4(GNS):c.76C>T (p.Leu26=)
|
|
|
NM_002076.4(GNS):c.770A>C (p.Lys257Thr)
|
|
|
NM_002076.4(GNS):c.779A>G (p.Asn260Ser)
|
rs2136247542
|
|
NM_002076.4(GNS):c.783C>T (p.Ile261=)
|
rs2136247536
|
|
NM_002076.4(GNS):c.787G>C (p.Gly263Arg)
|
|
|
NM_002076.4(GNS):c.789A>G (p.Gly263=)
|
rs2136247530
|
|
NM_002076.4(GNS):c.78G>A (p.Leu26=)
|
|
|
NM_002076.4(GNS):c.792+12C>G
|
|
|
NM_002076.4(GNS):c.792+13A>G
|
|
|
NM_002076.4(GNS):c.792+1G>A
|
|
|
NM_002076.4(GNS):c.792+9C>T
|
rs2136247523
|
|
NM_002076.4(GNS):c.793-11C>T
|
|
|
NM_002076.4(GNS):c.793-15del
|
rs754323701
|
|
NM_002076.4(GNS):c.793-15dup
|
|
|
NM_002076.4(GNS):c.798G>A (p.Lys266=)
|
|
|
NM_002076.4(GNS):c.801C>T (p.His267=)
|
rs758411953
|
|
NM_002076.4(GNS):c.812G>A (p.Arg271Lys)
|
|
|
NM_002076.4(GNS):c.814C>T (p.Gln272Ter)
|
rs1365770233
|
|
NM_002076.4(GNS):c.825T>C (p.Thr275=)
|
|
|
NM_002076.4(GNS):c.828A>G (p.Pro276=)
|
rs756712675
|
|
NM_002076.4(GNS):c.82C>T (p.Leu28=)
|
|
|
NM_002076.4(GNS):c.837T>C (p.Asn279=)
|
|
|
NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer)
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rs2136246147
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NM_002076.4(GNS):c.849G>A (p.Gln283=)
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NM_002076.4(GNS):c.855A>G (p.Leu285=)
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rs2136246141
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NM_002076.4(GNS):c.858T>C (p.Asp286=)
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rs2136246138
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NM_002076.4(GNS):c.859A>G (p.Asn287Asp)
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NM_002076.4(GNS):c.85C>G (p.Leu29Val)
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NM_002076.4(GNS):c.85C>T (p.Leu29=)
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rs1245676297
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NM_002076.4(GNS):c.861T>C (p.Asn287=)
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NM_002076.4(GNS):c.873A>G (p.Lys291=)
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NM_002076.4(GNS):c.875+11C>G
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NM_002076.4(GNS):c.875+14C>A
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NM_002076.4(GNS):c.875+17C>G
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NM_002076.4(GNS):c.875+18A>G
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rs748171659
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NM_002076.4(GNS):c.875+1G>A
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rs1214781989
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NM_002076.4(GNS):c.875+20A>G
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NM_002076.4(GNS):c.875+7G>A
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rs968486495
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NM_002076.4(GNS):c.875+7GCT[4]
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NM_002076.4(GNS):c.875+9dup
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NM_002076.4(GNS):c.876-17C>T
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rs2136245561
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NM_002076.4(GNS):c.876-19A>G
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NM_002076.4(GNS):c.876-2A>G
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NM_002076.4(GNS):c.876-5del
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rs2136245551
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NM_002076.4(GNS):c.876-8A>C
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NM_002076.4(GNS):c.876-8A>G
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rs1869660466
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NM_002076.4(GNS):c.87G>T (p.Leu29=)
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rs2136259446
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NM_002076.4(GNS):c.882A>C (p.Gln294His)
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NM_002076.4(GNS):c.882A>G (p.Gln294=)
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rs2136245535
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NM_002076.4(GNS):c.887_888del (p.Leu296fs)
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rs2136245530
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NM_002076.4(GNS):c.896T>C (p.Val299Ala)
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NM_002076.4(GNS):c.903C>T (p.Asp301=)
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rs761143788
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NM_002076.4(GNS):c.906T>C (p.Leu302=)
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rs2136245524
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NM_002076.4(GNS):c.911A>G (p.Glu304Gly)
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NM_002076.4(GNS):c.915A>G (p.Lys305=)
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rs766823105
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NM_002076.4(GNS):c.916C>A (p.Leu306Met)
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NM_002076.4(GNS):c.916C>G (p.Leu306Val)
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NM_002076.4(GNS):c.918G>A (p.Leu306=)
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NM_002076.4(GNS):c.921C>G (p.Val307=)
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NM_002076.4(GNS):c.921C>T (p.Val307=)
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NM_002076.4(GNS):c.923A>G (p.Lys308Arg)
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rs1168212943
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NM_002076.4(GNS):c.926G>A (p.Arg309Lys)
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NM_002076.4(GNS):c.927G>A (p.Arg309=)
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NM_002076.4(GNS):c.937dup (p.Thr313fs)
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NM_002076.4(GNS):c.939T>G (p.Thr313=)
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rs1869657867
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NM_002076.4(GNS):c.940G>A (p.Gly314Arg)
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NM_002076.4(GNS):c.950A>G (p.Asn317Ser)
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rs2136245502
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NM_002076.4(GNS):c.951C>T (p.Asn317=)
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NM_002076.4(GNS):c.959dup (p.Tyr320Ter)
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NM_002076.4(GNS):c.960C>T (p.Tyr320=)
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rs775564692
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NM_002076.4(GNS):c.961A>G (p.Ile321Val)
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NM_002076.4(GNS):c.96C>A (p.Gly32=)
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NM_002076.4(GNS):c.96C>T (p.Gly32=)
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NM_002076.4(GNS):c.974C>G (p.Ser325Ter)
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NM_002076.4(GNS):c.975A>G (p.Ser325=)
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NM_002076.4(GNS):c.978C>T (p.Asp326=)
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rs2136245486
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NM_002076.4(GNS):c.986A>G (p.Tyr329Cys)
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rs1338188022
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NM_002076.4(GNS):c.994+15T>G
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rs1592501849
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NM_002076.4(GNS):c.994+20A>G
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NM_002076.4(GNS):c.994+7G>A
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NM_002076.4(GNS):c.995-13G>A
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NM_002076.4(GNS):c.995-19T>G
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NM_002076.4(GNS):c.995-2A>C
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NM_002076.4(GNS):c.995-4T>G
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NM_002076.4(GNS):c.995-9T>A
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rs2136244474
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