NM_002076.4(GNS):c.*2735C>T
|
rs143396704
|
0.00233
|
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.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.*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.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.223G>A (p.Gly75Arg)
|
rs371990029
|
0.00008
|
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
|
rs139536679
|
0.00008
|
NM_002076.4(GNS):c.539A>G (p.Lys180Arg)
|
rs745307029
|
0.00007
|
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.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.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.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.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.676T>G (p.Phe226Val)
|
rs1283873163
|
0.00003
|
NM_002076.4(GNS):c.*2740G>A
|
rs886049761
|
0.00002
|
NM_002076.4(GNS):c.148G>A (p.Val50Met)
|
rs776163695
|
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.463G>A (p.Gly155Arg)
|
rs1402191110
|
0.00002
|
NM_002076.4(GNS):c.578G>A (p.Arg193Gln)
|
rs368261202
|
0.00002
|
NM_002076.4(GNS):c.895G>A (p.Val299Ile)
|
rs1327778268
|
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.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
|
rs756633427
|
0.00001
|
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser)
|
rs1364524364
|
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.1321G>A (p.Asp441Asn)
|
rs1345511245
|
0.00001
|
NM_002076.4(GNS):c.1452C>T (p.Asp484=)
|
rs1252524521
|
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.1658A>G (p.Ter553Trp)
|
rs766745346
|
0.00001
|
NM_002076.4(GNS):c.337A>G (p.Thr113Ala)
|
rs886049772
|
0.00001
|
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
|
rs1435047831
|
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.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.980A>G (p.Asn327Ser)
|
rs778927646
|
0.00001
|
NC_000012.11:g.(?_65110521)_(65153056_?)dup
|
|
|
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.*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.1024C>G (p.Gln342Glu)
|
|
|
NM_002076.4(GNS):c.1048G>A (p.Val350Ile)
|
|
|
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)
|
rs751200375
|
|
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.1091C>T (p.Thr364Ile)
|
|
|
NM_002076.4(GNS):c.1098+3A>G
|
|
|
NM_002076.4(GNS):c.109G>C (p.Val37Leu)
|
|
|
NM_002076.4(GNS):c.1105G>A (p.Val369Ile)
|
|
|
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu)
|
rs2136240576
|
|
NM_002076.4(GNS):c.1120T>A (p.Leu374Met)
|
|
|
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg)
|
|
|
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.1200+5_1200+7del
|
rs2136240506
|
|
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly)
|
|
|
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu)
|
|
|
NM_002076.4(GNS):c.1231G>C (p.Asp411His)
|
|
|
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala)
|
|
|
NM_002076.4(GNS):c.1234G>A (p.Val412Ile)
|
|
|
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp)
|
|
|
NM_002076.4(GNS):c.1267G>A (p.Val423Ile)
|
|
|
NM_002076.4(GNS):c.1309-6C>G
|
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.1323C>G (p.Asp441Glu)
|
|
|
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr)
|
|
|
NM_002076.4(GNS):c.1327G>A (p.Val443Ile)
|
|
|
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile)
|
rs2136237284
|
|
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)
|
|
|
NM_002076.4(GNS):c.138G>T (p.Arg46Ser)
|
|
|
NM_002076.4(GNS):c.140C>T (p.Pro47Leu)
|
|
|
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.1448C>A (p.Ala483Glu)
|
rs1163229693
|
|
NM_002076.4(GNS):c.145G>C (p.Val49Leu)
|
|
|
NM_002076.4(GNS):c.1471A>G (p.Ile491Val)
|
|
|
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp)
|
|
|
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe)
|
|
|
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly)
|
|
|
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.1571T>C (p.Phe524Ser)
|
|
|
NM_002076.4(GNS):c.1581-1G>A
|
rs1868873740
|
|
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)
|
|
|
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)
|
|
|
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.1621A>G (p.Ser541Gly)
|
|
|
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)
|
rs763232728
|
|
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)
|
|
|
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)
|
|
|
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
|
rs746189087
|
|
NM_002076.4(GNS):c.181C>T (p.Leu61Phe)
|
|
|
NM_002076.4(GNS):c.187G>T (p.Gly63Cys)
|
|
|
NM_002076.4(GNS):c.215C>G (p.Ala72Gly)
|
|
|
NM_002076.4(GNS):c.222C>G (p.Ile74Met)
|
|
|
NM_002076.4(GNS):c.227A>G (p.Glu76Gly)
|
|
|
NM_002076.4(GNS):c.229A>G (p.Met77Val)
|
rs763723151
|
|
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys)
|
|
|
NM_002076.4(GNS):c.285A>T (p.Arg95Ser)
|
|
|
NM_002076.4(GNS):c.322C>T (p.His108Tyr)
|
|
|
NM_002076.4(GNS):c.333C>G (p.Asn111Lys)
|
|
|
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.361A>G (p.Lys121Glu)
|
|
|
NM_002076.4(GNS):c.365C>G (p.Ser122Cys)
|
|
|
NM_002076.4(GNS):c.386C>G (p.Pro129Arg)
|
|
|
NM_002076.4(GNS):c.389A>G (p.Asn130Ser)
|
|
|
NM_002076.4(GNS):c.391A>T (p.Thr131Ser)
|
|
|
NM_002076.4(GNS):c.400G>A (p.Ala134Thr)
|
|
|
NM_002076.4(GNS):c.430A>G (p.Thr144Ala)
|
rs2136249846
|
|
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
|
|
|
NM_002076.4(GNS):c.447A>C (p.Lys149Asn)
|
|
|
NM_002076.4(GNS):c.454A>G (p.Asn152Asp)
|
rs2136249836
|
|
NM_002076.4(GNS):c.472G>A (p.Asp158Asn)
|
|
|
NM_002076.4(GNS):c.493G>A (p.Val165Ile)
|
|
|
NM_002076.4(GNS):c.525G>A (p.Leu175=)
|
rs2136248840
|
|
NM_002076.4(GNS):c.554C>A (p.Thr185Asn)
|
|
|
NM_002076.4(GNS):c.587G>A (p.Gly196Asp)
|
|
|
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys)
|
|
|
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.640G>T (p.Asp214Tyr)
|
|
|
NM_002076.4(GNS):c.650A>G (p.Asp217Gly)
|
|
|
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.707C>T (p.Ser236Leu)
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rs769055154
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NM_002076.4(GNS):c.70C>G (p.Pro24Ala)
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NM_002076.4(GNS):c.710C>T (p.Pro237Leu)
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NM_002076.4(GNS):c.739G>A (p.Ala247Thr)
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NM_002076.4(GNS):c.744C>G (p.Phe248Leu)
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NM_002076.4(GNS):c.760C>A (p.Pro254Thr)
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NM_002076.4(GNS):c.76C>G (p.Leu26Val)
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NM_002076.4(GNS):c.770A>C (p.Lys257Thr)
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NM_002076.4(GNS):c.779A>G (p.Asn260Ser)
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rs2136247542
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NM_002076.4(GNS):c.787G>C (p.Gly263Arg)
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NM_002076.4(GNS):c.812G>A (p.Arg271Lys)
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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.882A>C (p.Gln294His)
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NM_002076.4(GNS):c.896T>C (p.Val299Ala)
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NM_002076.4(GNS):c.911A>G (p.Glu304Gly)
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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.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.939T>G (p.Thr313=)
|
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)
|
rs2136245502
|
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NM_002076.4(GNS):c.961A>G (p.Ile321Val)
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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+20A>G
|
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NM_002076.4(GNS):c.995-9T>A
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rs2136244474
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