ClinVar Miner

List of variants in gene DST studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 698
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HGVS dbSNP gnomAD frequency
NM_001374736.1(DST):c.16308G>A (p.Met5436Ile) rs4715630 0.79707
NM_001374736.1(DST):c.16941+189T>A rs7758054 0.79268
NM_001374736.1(DST):c.19240-111T>C rs9296848 0.76901
NM_001374736.1(DST):c.17595+73A>G rs9357922 0.76298
NM_001374736.1(DST):c.19896+64T>C rs4283892 0.75775
NM_001374736.1(DST):c.17109-120G>T rs6939305 0.71830
NM_001374736.1(DST):c.16045A>G (p.Thr5349Ala) rs4715631 0.68618
NM_001374736.1(DST):c.16609-261C>T rs4472350 0.66162
NM_001374736.1(DST):c.18576+182_18576+183del rs5876514 0.65980
NM_001374736.1(DST):c.18357+84C>T rs4715626 0.65637
NM_001374736.1(DST):c.13879-329C>G rs9475723 0.45586
NM_001374736.1(DST):c.5147+44A>G rs7747060 0.42740
NM_001374736.1(DST):c.14310+206C>T rs1884284 0.42486
NM_001723.7(DST):c.6031G>C (p.Val2011Leu) rs6459166 0.42446
NM_001723.7(DST):c.4074G>A (p.Lys1358=) rs2230862 0.40815
NM_001374736.1(DST):c.14311-63T>C rs2067543 0.40094
NM_001374736.1(DST):c.14069-215C>T rs9357923 0.38657
NM_001374736.1(DST):c.14068+5G>A rs9367689 0.38646
NM_001374736.1(DST):c.14310+135T>C rs1884286 0.38621
NM_001374736.1(DST):c.14310+185A>T rs1884285 0.38589
NM_001374736.1(DST):c.13237-40G>A rs2144405 0.38443
NM_001374736.1(DST):c.13722-291T>A rs12201550 0.38279
NM_001374736.1(DST):c.11792A>G (p.Gln3931Arg) rs4712138 0.37552
NM_001374736.1(DST):c.13721+253C>T rs10456736 0.37540
NM_001374736.1(DST):c.21864+144C>T rs6928601 0.35186
NM_001374736.1(DST):c.11929-36C>T rs9370541 0.35007
NM_001374736.1(DST):c.4930-3171C>T rs9382659 0.33593
NM_001374736.1(DST):c.13554+80A>G rs1014309 0.32080
NM_001374736.1(DST):c.21675+162C>A rs2273973 0.31975
NM_001374736.1(DST):c.22551+87T>A rs9349823 0.31595
NM_001374736.1(DST):c.14741G>A (p.Arg4914His) rs11756977 0.31190
NM_001374736.1(DST):c.4930-3422T>G rs9396228 0.31039
NM_001374736.1(DST):c.5147+283C>T rs9370544 0.30114
NM_001374736.1(DST):c.21048-70A>T rs2273974 0.27062
NM_001374736.1(DST):c.954+56C>T rs13191164 0.27036
NM_001374736.1(DST):c.21994+107C>A rs2273972 0.26550
NM_001374736.1(DST):c.625+7830A>G rs71550518 0.25524
NM_001374736.1(DST):c.687+259A>G rs16888135 0.24961
NM_001374736.1(DST):c.5059-62A>T rs9396226 0.24203
NM_001374736.1(DST):c.751T>C (p.Leu251=) rs16888128 0.23562
NM_001374736.1(DST):c.20395-234A>G rs7746753 0.22232
NM_001374736.1(DST):c.20758-260T>G rs1359068 0.21891
NM_001374736.1(DST):c.20224-56G>T rs11759493 0.21747
NM_001374736.1(DST):c.625+7502A>C rs7766565 0.21553
NM_001374736.1(DST):c.23195-114T>C rs9370531 0.20639
NM_001374736.1(DST):c.21995-113del rs34164953 0.20572
NM_001374736.1(DST):c.1434+239C>T rs73455797 0.18329
NM_001374736.1(DST):c.1554+37A>G rs58487319 0.18286
NM_001374736.1(DST):c.1778+138C>T rs7760503 0.16973
NM_001374736.1(DST):c.1371C>T (p.Tyr457=) rs41267673 0.15345
NM_001374736.1(DST):c.954+65A>G rs13206849 0.14475
NM_001374736.1(DST):c.3964-147A>G rs16888070 0.14298
NM_001374736.1(DST):c.2368T>C (p.Leu790=) rs2144407 0.14274
NM_001723.7(DST):c.98T>C (p.Leu33Ser) rs1024196 0.14270
NM_001374736.1(DST):c.3964-70C>A rs45553042 0.14174
NM_001374736.1(DST):c.182-229C>G rs71564870 0.13320
NM_001374736.1(DST):c.625+8476G>T rs13192931 0.12396
NM_001374736.1(DST):c.3806-251G>A rs2207678 0.12355
NM_001374736.1(DST):c.3494+71A>G rs6941626 0.12327
NM_001374736.1(DST):c.626-34C>T rs41267675 0.12131
NM_001374736.1(DST):c.2027+211G>A rs2180148 0.11596
NM_001374736.1(DST):c.625+7666T>C rs191241064 0.10621
NM_001374736.1(DST):c.4722+110T>A rs41271876 0.09817
NM_001374736.1(DST):c.14440+242A>C rs9475718 0.09764
NM_001374736.1(DST):c.13027+245A>G rs57056118 0.09451
NM_001374736.1(DST):c.13555-172T>G rs16888007 0.06392
NM_001374736.1(DST):c.3622-213C>T rs61188595 0.06324
NM_001374736.1(DST):c.3963+32T>G rs10456737 0.06286
NM_001374736.1(DST):c.16609-151T>C rs7769014 0.06100
NM_001374736.1(DST):c.13722-147T>A rs55670456 0.06036
NM_001374736.1(DST):c.15121G>A (p.Val5041Ile) rs62621210 0.05894
NM_001374736.1(DST):c.16942-83C>T rs4256439 0.05614
NM_001374736.1(DST):c.17269-97T>A rs3800026 0.05594
NM_001374736.1(DST):c.13721+125A>G rs16888005 0.05414
NM_001374736.1(DST):c.1214+300A>G rs72881019 0.05183
NM_001374736.1(DST):c.19465-106T>C rs58730144 0.05112
NM_001374736.1(DST):c.20223+326G>A rs73465854 0.04692
NM_001374736.1(DST):c.22322-224A>G rs11963288 0.04233
NM_001374736.1(DST):c.22551+162del rs59305137 0.04087
NM_001374736.1(DST):c.22687+194T>C rs6899320 0.04084
NM_001374736.1(DST):c.22760-207G>A rs73747832 0.03835
NM_001374736.1(DST):c.19740+141C>T rs60820166 0.03819
NM_001374736.1(DST):c.18684G>A (p.Glu6228=) rs41271864 0.03811
NM_001374736.1(DST):c.19030G>A (p.Asp6344Asn) rs41271862 0.03717
NM_001374736.1(DST):c.11542-317G>A rs114751081 0.03383
NM_001374736.1(DST):c.1555-202A>G rs114022984 0.03333
NM_001723.7(DST):c.4980A>C (p.Val1660=) rs2230863 0.03282
NM_001374736.1(DST):c.5058+251G>A rs80182632 0.03275
NM_001374736.1(DST):c.4930-3354C>G rs7760099 0.03261
NM_001374736.1(DST):c.4281+173G>C rs16888068 0.03223
NM_001374736.1(DST):c.295G>A (p.Val99Met) rs11969595 0.03212
NM_001723.7(DST):c.5055T>C (p.Asn1685=) rs2230864 0.03211
NM_001374736.1(DST):c.877-173A>G rs75799672 0.03025
NM_001374736.1(DST):c.14006-6T>C rs113693553 0.02880
NM_001374736.1(DST):c.22959+158G>A rs114556571 0.02729
NM_001374736.1(DST):c.14441-7del rs201921834 0.02608
NM_001374736.1(DST):c.15136+168A>G rs78684010 0.02608
NM_001374736.1(DST):c.22569+145C>T rs144996180 0.02602
NM_001374736.1(DST):c.21207+144G>A rs1535611 0.02593
NM_001374736.1(DST):c.18129+213C>T rs143400261 0.02589
NM_001374736.1(DST):c.19012+72T>C rs116835505 0.02586
NM_001374736.1(DST):c.19897-151A>G rs114439537 0.02586
NM_001374736.1(DST):c.22159-163A>G rs76625552 0.02584
NM_001374736.1(DST):c.18357+175C>A rs76958725 0.02582
NM_001374736.1(DST):c.18357+171A>G rs114933767 0.02581
NM_001374736.1(DST):c.23058G>A (p.Val7686=) rs144012429 0.02565
NM_001374736.1(DST):c.23195-202A>G rs142108560 0.02563
NM_001374736.1(DST):c.12196-91T>G rs116762675 0.02541
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02534
NM_001723.7(DST):c.6633A>G (p.Ala2211=) rs115542549 0.02533
NM_001374736.1(DST):c.3187-28C>G rs115872381 0.02517
NM_001374736.1(DST):c.2027+269G>C rs145674315 0.02515
NM_001374736.1(DST):c.3061-315G>T rs116494473 0.02508
NM_001374736.1(DST):c.4452T>C (p.Asn1484=) rs112640831 0.02508
NM_001374736.1(DST):c.4831-50G>C rs41271872 0.02508
NM_001374736.1(DST):c.626-200C>T rs79531645 0.02458
NM_001374736.1(DST):c.4590T>G (p.Asn1530Lys) rs35014998 0.02397
NM_001374736.1(DST):c.4722+162C>T rs112922296 0.02387
NM_001374736.1(DST):c.4831-208G>A rs113337670 0.02384
NM_001374736.1(DST):c.4723-49T>C rs112121053 0.02371
NM_001374736.1(DST):c.18576+285T>C rs17830685 0.02370
NM_001374736.1(DST):c.877-108A>T rs75459032 0.02325
NM_001374736.1(DST):c.5059-238T>C rs76679633 0.02211
NM_001374736.1(DST):c.5059-63T>A rs35458294 0.02124
NM_001723.7(DST):c.3346C>T (p.His1116Tyr) rs6909714 0.02098
NM_001374736.1(DST):c.12196-62A>G rs79670153 0.02092
NM_001374736.1(DST):c.294C>T (p.Pro98=) rs78633225 0.02062
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg) rs35497571 0.02037
NM_001374736.1(DST):c.3060+184A>G rs7748364 0.02033
NM_001374736.1(DST):c.216+48C>T rs115147853 0.01980
NM_001374736.1(DST):c.15861G>A (p.Arg5287=) rs58928900 0.01962
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_001374736.1(DST):c.16941+283G>T rs142299268 0.01914
NM_001374736.1(DST):c.17030C>T (p.Ala5677Val) rs145976321 0.01912
NM_001374736.1(DST):c.18105T>C (p.Asp6035=) rs148368712 0.01910
NM_001374736.1(DST):c.4722+51C>G rs6908417 0.01907
NM_001374736.1(DST):c.16941+105G>A rs140470813 0.01904
NM_001374736.1(DST):c.23070+145G>A rs79770432 0.01896
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_001374736.1(DST):c.17923-120G>C rs141542052 0.01879
NM_001374736.1(DST):c.21207+150G>A rs115886428 0.01853
NM_001374736.1(DST):c.12196-291G>C rs114495928 0.01814
NM_001374736.1(DST):c.4722+179C>T rs80189139 0.01811
NM_001374736.1(DST):c.4930-864A>C rs17674547 0.01739
NM_001374736.1(DST):c.21864+232C>T rs74975287 0.01728
NM_001374736.1(DST):c.22687+143A>G rs75097763 0.01617
NM_001374736.1(DST):c.21675+7G>A rs34892827 0.01510
NM_001374736.1(DST):c.12196-174T>A rs11964738 0.01505
NM_001374736.1(DST):c.13598T>C (p.Val4533Ala) rs9464393 0.01503
NM_001374736.1(DST):c.16609-247T>C rs142823091 0.01333
NM_001374736.1(DST):c.4062C>T (p.Val1354=) rs78600049 0.01311
NM_001374736.1(DST):c.16942-157A>C rs73749957 0.01287
NM_001374736.1(DST):c.16770+132A>G rs73749980 0.01283
NM_001374736.1(DST):c.16942-212A>G rs73749958 0.01282
NM_001374736.1(DST):c.19012+89G>A rs17757606 0.01210
NM_001374736.1(DST):c.5283+106G>A rs116707823 0.01204
NM_001374736.1(DST):c.3492C>T (p.Asn1164=) rs79026338 0.01176
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_001374736.1(DST):c.19013-23G>A rs114139170 0.01169
NM_001374736.1(DST):c.4722+211G>A rs34979481 0.01160
NM_001374736.1(DST):c.14068+152T>C rs139823666 0.01154
NM_001374736.1(DST):c.19897-157C>G rs9475708 0.01148
NM_001374736.1(DST):c.4722+155C>T rs41271874 0.01144
NM_001374736.1(DST):c.5283+292G>A rs115123784 0.01139
NM_001374736.1(DST):c.13878+210A>C rs143368044 0.01110
NM_001723.7(DST):c.4289C>T (p.Ala1430Val) rs78701610 0.01093
NM_001374736.1(DST):c.4930-3223G>A rs114420958 0.01090
NM_001374736.1(DST):c.20224-131G>A rs41271860 0.01088
NM_001723.7(DST):c.5485C>G (p.Gln1829Glu) rs79943354 0.01087
NM_183380.4(DST):c.-128T>C rs79944930 0.01081
NM_001374736.1(DST):c.4845G>A (p.Arg1615=) rs41271870 0.01076
NM_001374736.1(DST):c.17923-179C>G rs112280321 0.01068
NM_001374736.1(DST):c.625+8571G>A rs79725238 0.01063
NM_001374736.1(DST):c.20395-211G>C rs77818082 0.01049
NM_001374736.1(DST):c.13028-161A>G rs115635220 0.01048
NM_001374736.1(DST):c.625+7700T>C rs1186714089 0.01044
NM_001374736.1(DST):c.17923-89C>T rs77285065 0.01034
NM_001374736.1(DST):c.1778+200G>A rs7760094 0.01029
NM_001374736.1(DST):c.15191A>G (p.Gln5064Arg) rs143438011 0.00955
NM_001374736.1(DST):c.4200A>G (p.Lys1400=) rs35715547 0.00947
NM_001374736.1(DST):c.22569+33T>C rs41271852 0.00946
NM_001374736.1(DST):c.625+7694C>T rs1473261823 0.00909
NM_001374736.1(DST):c.3494+84C>G rs41271880 0.00882
NM_001374736.1(DST):c.20977C>G (p.Leu6993Val) rs80260070 0.00880
NM_001374736.1(DST):c.20394+31G>A rs115951263 0.00877
NM_001374736.1(DST):c.22552-82G>A rs80134822 0.00854
NM_001374736.1(DST):c.3186+87G>A rs150155934 0.00852
NM_001374736.1(DST):c.22305T>C (p.Asp7435=) rs114094997 0.00848
NM_001374736.1(DST):c.14312C>T (p.Ser4771Leu) rs62619760 0.00847
NM_001374736.1(DST):c.1048-45A>G rs79812261 0.00829
NM_001374736.1(DST):c.4281+253G>A rs192165678 0.00827
NM_001374736.1(DST):c.21402+166A>G rs74474507 0.00809
NM_001374736.1(DST):c.20997G>A (p.Leu6999=) rs187652380 0.00781
NM_001374736.1(DST):c.19464+52C>T rs116220185 0.00755
NM_001374736.1(DST):c.13820C>A (p.Pro4607His) rs138967674 0.00744
NM_001374736.1(DST):c.3060+129T>C rs139910229 0.00731
NM_001374736.1(DST):c.3060+146A>G rs150685075 0.00731
NM_001374736.1(DST):c.2964+137A>G rs116605289 0.00728
NM_001374736.1(DST):c.3060+26A>G rs57439200 0.00727
NM_001374736.1(DST):c.19740+110A>G rs114906986 0.00713
NM_001374736.1(DST):c.19648A>G (p.Thr6550Ala) rs147983675 0.00711
NM_001374736.1(DST):c.3964-50C>T rs115261861 0.00707
NM_001374736.1(DST):c.4475+51G>A rs115933843 0.00703
NM_001374736.1(DST):c.4475+15T>A rs74475324 0.00699
NM_001374736.1(DST):c.17923-126A>G rs146362473 0.00680
NM_001723.7(DST):c.5428T>C (p.Tyr1810His) rs79225819 0.00678
NM_001374736.1(DST):c.954+157A>C rs80179141 0.00677
NM_001374736.1(DST):c.1555-120C>G rs115834496 0.00673
NM_001374736.1(DST):c.14541A>G (p.Gln4847=) rs16887983 0.00658
NM_001374736.1(DST):c.18397T>A (p.Cys6133Ser) rs75105686 0.00642
NM_001374736.1(DST):c.13555-17A>G rs41271868 0.00625
NM_001374736.1(DST):c.16398G>A (p.Leu5466=) rs12662511 0.00620
NM_001374736.1(DST):c.17108+105T>C rs145852983 0.00597
NM_001374736.1(DST):c.3622-174A>G rs183573202 0.00596
NM_001374736.1(DST):c.625+8270C>T rs373194279 0.00581
NM_001374736.1(DST):c.3187-199G>T rs146927886 0.00574
NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn) rs139350480 0.00572
NM_001374736.1(DST):c.19740+33A>C rs77434452 0.00559
NM_001374736.1(DST):c.19567-95A>G rs140657390 0.00525
NM_001374736.1(DST):c.955-23T>C rs79081659 0.00525
NM_001374736.1(DST):c.4929+110G>A rs116472779 0.00515
NM_001374736.1(DST):c.20095-125A>G rs114081171 0.00494
NM_001374736.1(DST):c.4638+16T>A rs115437648 0.00488
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_001374736.1(DST):c.625+93C>T rs183904243 0.00403
NM_001374736.1(DST):c.21208-25A>G rs1323322 0.00385
NM_001374736.1(DST):c.10443G>A (p.Thr3481=) rs45498096 0.00379
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp) rs34767818 0.00349
NM_001374736.1(DST):c.17680+21A>G rs148477548 0.00318
NM_001723.7(DST):c.7205A>G (p.Asn2402Ser) rs115473902 0.00305
NM_001374736.1(DST):c.12839A>G (p.Lys4280Arg) rs186813964 0.00285
NM_001723.7(DST):c.4674C>T (p.Leu1558=) rs191617697 0.00285
NM_001374736.1(DST):c.4929+81A>G rs542262570 0.00280
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser) rs141573097 0.00280
NM_001723.7(DST):c.6006C>T (p.Asn2002=) rs138576576 0.00277
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260
NM_001723.7(DST):c.5153A>C (p.Lys1718Thr) rs45487998 0.00245
NM_001374736.1(DST):c.13028-16G>A rs114193251 0.00229
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_001374736.1(DST):c.60C>G (p.Phe20Leu) rs150003298 0.00220
NM_001723.7(DST):c.6373G>A (p.Val2125Ile) rs75275319 0.00217
NM_001374736.1(DST):c.14959T>C (p.Leu4987=) rs78470764 0.00210
NM_001374736.1(DST):c.19240-77T>C rs80137082 0.00205
NM_001723.7(DST):c.25C>T (p.Arg9Cys) rs75671065 0.00193
NM_001723.7(DST):c.4961C>T (p.Ala1654Val) rs150229184 0.00182
NM_001374736.1(DST):c.22916C>T (p.Ala7639Val) rs201429821 0.00178
NM_001723.7(DST):c.4060C>A (p.Gln1354Lys) rs35599167 0.00167
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_001374736.1(DST):c.2705C>G (p.Ser902Cys) rs138553142 0.00148
NM_001374736.1(DST):c.14440G>A (p.Asp4814Asn) rs200442117 0.00147
NM_001374736.1(DST):c.21538A>G (p.Met7180Val) rs200006386 0.00141
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr) rs140192373 0.00140
NM_001723.7(DST):c.4049C>T (p.Thr1350Met) rs45472691 0.00137
NM_001374736.1(DST):c.21423G>A (p.Val7141=) rs201115435 0.00133
NM_001374736.1(DST):c.14005+52T>C rs768783567 0.00128
NM_001374736.1(DST):c.4929+3811G>A rs146628688 0.00121
NM_001374736.1(DST):c.742A>G (p.Ile248Val) rs112635185 0.00121
NM_001374736.1(DST):c.4990G>T (p.Val1664Leu) rs76257231 0.00120
NM_001374736.1(DST):c.4997A>T (p.Asn1666Ile) rs183804748 0.00118
NM_001374736.1(DST):c.17108+10A>G rs191140581 0.00117
NM_001374736.1(DST):c.258A>G (p.Ala86=) rs201106926 0.00115
NM_001723.7(DST):c.6582A>C (p.Ala2194=) rs149007397 0.00115
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp) rs193252082 0.00107
NM_001723.7(DST):c.6401C>T (p.Thr2134Met) rs115983672 0.00107
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys) rs180765536 0.00102
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser) rs199628430 0.00095
NM_001374736.1(DST):c.22896T>C (p.Thr7632=) rs200781365 0.00091
NM_001374736.1(DST):c.5059-17C>G rs190803185 0.00089
NM_001374736.1(DST):c.16967G>A (p.Arg5656Gln) rs116774070 0.00088
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu) rs191081991 0.00086
NM_001374736.1(DST):c.20153G>A (p.Arg6718His) rs79728438 0.00083
NM_001723.7(DST):c.5921A>G (p.Asn1974Ser) rs147572287 0.00076
NM_001374736.1(DST):c.2504G>A (p.Arg835His) rs41267671 0.00068
NM_001723.7(DST):c.3436A>G (p.Met1146Val) rs148413592 0.00066
NM_001723.7(DST):c.5930C>G (p.Thr1977Arg) rs148856756 0.00065
NM_001374736.1(DST):c.20976C>T (p.Asn6992=) rs199658821 0.00064
NM_001374736.1(DST):c.11542-8C>T rs370887046 0.00060
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 0.00058
NM_001374736.1(DST):c.12043A>T (p.Ile4015Phe) rs201249286 0.00057
NM_001374736.1(DST):c.15570G>A (p.Glu5190=) rs200941177 0.00052
NM_001374736.1(DST):c.224G>A (p.Arg75Lys) rs563479643 0.00047
NM_001723.7(DST):c.6868A>G (p.Arg2290Gly) rs112473525 0.00047
NM_001374736.1(DST):c.16047C>G (p.Thr5349=) rs370841140 0.00041
NM_001374736.1(DST):c.4638+7A>T rs185349093 0.00041
NM_001723.7(DST):c.4772A>C (p.Gln1591Pro) rs138185589 0.00041
NM_001723.7(DST):c.4876C>T (p.Arg1626Cys) rs138869481 0.00040
NM_001374736.1(DST):c.2125A>G (p.Met709Val) rs142650835 0.00039
NM_001374736.1(DST):c.12159T>G (p.Thr4053=) rs369432519 0.00035
NM_001374736.1(DST):c.12680G>A (p.Arg4227His) rs201346012 0.00035
NM_001374736.1(DST):c.3282C>T (p.Asp1094=) rs145723100 0.00034
NM_001374736.1(DST):c.5148-8T>C rs376856354 0.00034
NM_001723.7(DST):c.5091C>T (p.Arg1697=) rs144113067 0.00034
NM_001723.7(DST):c.5423A>G (p.Gln1808Arg) rs139868117 0.00034
NM_001374736.1(DST):c.13273A>G (p.Ile4425Val) rs182262649 0.00033
NM_001723.7(DST):c.4535G>A (p.Arg1512Gln) rs148783697 0.00033
NM_001723.7(DST):c.7578G>A (p.Gly2526=) rs143623628 0.00032
NM_001374736.1(DST):c.3168C>A (p.Asp1056Glu) rs147124522 0.00031
NM_001374736.1(DST):c.4046C>T (p.Ala1349Val) rs150656535 0.00029
NM_001723.7(DST):c.5095G>A (p.Glu1699Lys) rs201526616 0.00029
NM_001723.7(DST):c.6831C>T (p.Ala2277=) rs34628660 0.00029
NM_001723.7(DST):c.6319C>G (p.Leu2107Val) rs148116284 0.00026
NM_001374736.1(DST):c.23055C>T (p.Pro7685=) rs201991278 0.00025
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn) rs374575683 0.00024
NM_001374736.1(DST):c.4330G>A (p.Glu1444Lys) rs143924906 0.00024
NM_001374736.1(DST):c.18699C>T (p.Ala6233=) rs373689917 0.00023
NM_001374736.1(DST):c.14441-7C>T rs41271866 0.00022
NM_001374736.1(DST):c.20542G>A (p.Glu6848Lys) rs201305293 0.00022
NM_001374736.1(DST):c.5182C>A (p.Gln1728Lys) rs768721876 0.00022
NM_001374736.1(DST):c.19656G>C (p.Glu6552Asp) rs199549741 0.00021
NM_001374736.1(DST):c.11831C>A (p.Ala3944Asp) rs181057912 0.00020
NM_001374736.1(DST):c.11941A>C (p.Lys3981Gln) rs149342331 0.00020
NM_001374736.1(DST):c.14731C>A (p.Pro4911Thr) rs201412680 0.00019
NM_001723.7(DST):c.7284A>G (p.Thr2428=) rs150845451 0.00019
NM_001374736.1(DST):c.22458C>T (p.Ala7486=) rs554828969 0.00018
NM_001374736.1(DST):c.17450A>G (p.Gln5817Arg) rs761791970 0.00017
NM_001374736.1(DST):c.20148G>A (p.Thr6716=) rs552952660 0.00016
NM_001374736.1(DST):c.2950C>T (p.Arg984Trp) rs138162782 0.00015
NM_001374736.1(DST):c.13361T>C (p.Leu4454Ser) rs201758531 0.00014
NM_001374736.1(DST):c.19842G>T (p.Gln6614His) rs376562335 0.00014
NM_001374736.1(DST):c.20392A>G (p.Lys6798Glu) rs560268832 0.00013
NM_001374736.1(DST):c.133G>A (p.Gly45Arg) rs139905357 0.00012
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp) rs201419873 0.00012
NM_001374736.1(DST):c.21260G>A (p.Arg7087His) rs199548754 0.00011
NM_001374736.1(DST):c.23405C>T (p.Thr7802Met) rs367598583 0.00011
NM_001374736.1(DST):c.2757G>A (p.Ala919=) rs376863860 0.00011
NM_001374736.1(DST):c.3375G>A (p.Ala1125=) rs149789667 0.00011
NM_001723.7(DST):c.3665T>C (p.Ile1222Thr) rs757261774 0.00011
NM_001723.7(DST):c.3719A>G (p.Asn1240Ser) rs200744603 0.00011
NM_001374736.1(DST):c.14874C>G (p.Ser4958Arg) rs746641066 0.00010
NM_001374736.1(DST):c.17800C>T (p.Arg5934Trp) rs759629888 0.00010
NM_001374736.1(DST):c.19406G>A (p.Arg6469Gln) rs767731448 0.00010
NM_001374736.1(DST):c.4390C>T (p.Arg1464Trp) rs200316560 0.00010
NM_001374736.1(DST):c.4793G>A (p.Arg1598Gln) rs369264011 0.00010
NM_001374736.1(DST):c.12549C>T (p.Asp4183=) rs375624981 0.00009
NM_001374736.1(DST):c.12959C>T (p.Thr4320Met) rs544327450 0.00009
NM_001374736.1(DST):c.13262G>A (p.Arg4421His) rs373925692 0.00009
NM_001374736.1(DST):c.16922C>T (p.Ala5641Val) rs768150254 0.00009
NM_001374736.1(DST):c.21379C>T (p.Arg7127Trp) rs749154692 0.00009
NM_001374736.1(DST):c.22195C>T (p.Arg7399Cys) rs373258036 0.00009
NM_001374736.1(DST):c.23079A>G (p.Pro7693=) rs370496665 0.00009
NM_001374736.1(DST):c.13722-4G>A rs190649369 0.00008
NM_001374736.1(DST):c.14495A>G (p.Glu4832Gly) rs201437391 0.00008
NM_001374736.1(DST):c.15902C>T (p.Ser5301Leu) rs112177059 0.00008
NM_001374736.1(DST):c.20412T>C (p.Ala6804=) rs146563577 0.00008
NM_001374736.1(DST):c.4120A>G (p.Met1374Val) rs138508306 0.00008
NM_001374736.1(DST):c.12238A>G (p.Ile4080Val) rs200855949 0.00007
NM_001374736.1(DST):c.16742A>G (p.Asn5581Ser) rs201488187 0.00007
NM_001723.7(DST):c.4397A>G (p.Lys1466Arg) rs144279221 0.00007
NM_001374736.1(DST):c.13499T>C (p.Leu4500Pro) rs758532940 0.00006
NM_001374736.1(DST):c.14800C>A (p.Gln4934Lys) rs199936602 0.00006
NM_001374736.1(DST):c.17340G>A (p.Lys5780=) rs200304225 0.00006
NM_001374736.1(DST):c.18526G>A (p.Ala6176Thr) rs540680338 0.00006
NM_001374736.1(DST):c.22959+3A>G rs375303601 0.00006
NM_001374736.1(DST):c.4651G>A (p.Glu1551Lys) rs375889300 0.00006
NM_001374736.1(DST):c.4741A>G (p.Met1581Val) rs771920908 0.00006
NM_001374736.1(DST):c.5029G>T (p.Ala1677Ser) rs370590691 0.00006
NM_001723.7(DST):c.6449A>G (p.Lys2150Arg) rs755587547 0.00006
NM_001723.7(DST):c.7310G>A (p.Arg2437Gln) rs763761047 0.00006
NM_001723.7(DST):c.7432C>T (p.Arg2478Ter) rs767292450 0.00006
NM_001374736.1(DST):c.18213G>T (p.Glu6071Asp) rs373876039 0.00005
NM_001374736.1(DST):c.19317A>G (p.Ala6439=) rs183257700 0.00005
NM_001723.7(DST):c.5058G>A (p.Ala1686=) rs143594621 0.00005
NM_001374736.1(DST):c.12903+15A>G rs747670088 0.00004
NM_001374736.1(DST):c.16763A>G (p.Asn5588Ser) rs762298460 0.00004
NM_001374736.1(DST):c.17828G>A (p.Cys5943Tyr) rs746922445 0.00004
NM_001374736.1(DST):c.1864C>T (p.Leu622Phe) rs374009818 0.00004
NM_001374736.1(DST):c.20561A>G (p.Asn6854Ser) rs372049401 0.00004
NM_001374736.1(DST):c.21885C>T (p.Thr7295=) rs764924172 0.00004
NM_001374736.1(DST):c.2396T>G (p.Leu799Arg) rs372295184 0.00004
NM_001374736.1(DST):c.2848G>A (p.Asp950Asn) rs376193903 0.00004
NM_001374736.1(DST):c.3126G>A (p.Lys1042=) rs76795414 0.00004
NM_001374736.1(DST):c.3600T>C (p.Ile1200=) rs200453699 0.00004
NM_001374736.1(DST):c.3699T>C (p.Asp1233=) rs751682343 0.00004
NM_001374736.1(DST):c.3806-20A>G rs748934318 0.00004
NM_001723.7(DST):c.3370C>T (p.Gln1124Ter) rs201045495 0.00004
NM_001723.7(DST):c.3886A>G (p.Lys1296Glu) rs771246306 0.00004
NM_001723.7(DST):c.6415A>G (p.Ile2139Val) rs374067079 0.00004
NM_001723.7(DST):c.7552C>T (p.Arg2518Ter) rs201023684 0.00004
NM_001723.7(DST):c.7946C>T (p.Ser2649Phe) rs773910675 0.00004
NM_001374736.1(DST):c.13606A>G (p.Ser4536Gly) rs759298431 0.00003
NM_001374736.1(DST):c.16233G>C (p.Val5411=) rs201830030 0.00003
NM_001374736.1(DST):c.16235G>A (p.Gly5412Glu) rs775546048 0.00003
NM_001374736.1(DST):c.16747C>T (p.Arg5583Trp) rs568055144 0.00003
NM_001374736.1(DST):c.17923G>A (p.Glu5975Lys) rs371243432 0.00003
NM_001374736.1(DST):c.19322G>A (p.Gly6441Glu) rs768907971 0.00003
NM_001374736.1(DST):c.20113G>A (p.Glu6705Lys) rs376734906 0.00003
NM_001374736.1(DST):c.2534T>G (p.Val845Gly) rs776991432 0.00003
NM_001374736.1(DST):c.4227A>C (p.Glu1409Asp) rs777359107 0.00003
NM_001374736.1(DST):c.5145C>T (p.Asp1715=) rs374134272 0.00003
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter) rs779271284 0.00003
NM_001723.7(DST):c.4729G>A (p.Glu1577Lys) rs199612891 0.00003
NM_001374736.1(DST):c.11679T>C (p.Tyr3893=) rs375258425 0.00002
NM_001374736.1(DST):c.15825T>C (p.Phe5275=) rs770973190 0.00002
NM_001374736.1(DST):c.16365C>T (p.Thr5455=) rs371951779 0.00002
NM_001374736.1(DST):c.17764G>A (p.Ala5922Thr) rs781217704 0.00002
NM_001374736.1(DST):c.17804T>A (p.Leu5935Gln) rs763300533 0.00002
NM_001374736.1(DST):c.20524G>C (p.Val6842Leu) rs769989434 0.00002
NM_001374736.1(DST):c.22377T>C (p.Asp7459=) rs757599796 0.00002
NM_001374736.1(DST):c.3875A>G (p.Asn1292Ser) rs1275168494 0.00002
NM_001374736.1(DST):c.4789C>T (p.Arg1597Cys) rs371741067 0.00002
NM_001374736.1(DST):c.5098T>C (p.Ser1700Pro) rs369856118 0.00002
NM_001723.7(DST):c.4020C>T (p.Ile1340=) rs768554069 0.00002
NM_001723.7(DST):c.6731T>A (p.Ile2244Asn) rs780009389 0.00002
NM_001374736.1(DST):c.12121C>A (p.Leu4041Met) rs771562597 0.00001
NM_001374736.1(DST):c.13076G>A (p.Arg4359Gln) rs753675392 0.00001
NM_001374736.1(DST):c.14399C>A (p.Thr4800Asn) rs921342916 0.00001
NM_001374736.1(DST):c.14604C>A (p.Asp4868Glu) rs780528402 0.00001
NM_001374736.1(DST):c.15161C>T (p.Ser5054Leu) rs374048995 0.00001
NM_001374736.1(DST):c.16503G>C (p.Leu5501Phe) rs759882210 0.00001
NM_001374736.1(DST):c.17221A>G (p.Ile5741Val) rs535045295 0.00001
NM_001374736.1(DST):c.17939C>G (p.Ala5980Gly) rs778663720 0.00001
NM_001374736.1(DST):c.18047A>G (p.Asp6016Gly) rs1444942164 0.00001
NM_001374736.1(DST):c.18072C>T (p.Ser6024=) rs747333827 0.00001
NM_001374736.1(DST):c.18358A>G (p.Lys6120Glu) rs2096572467 0.00001
NM_001374736.1(DST):c.18673T>G (p.Ser6225Ala) rs1033335791 0.00001
NM_001374736.1(DST):c.18921A>G (p.Glu6307=) rs758985783 0.00001
NM_001374736.1(DST):c.18938A>G (p.Tyr6313Cys) rs781596409 0.00001
NM_001374736.1(DST):c.19055A>G (p.Asn6352Ser) rs762393724 0.00001
NM_001374736.1(DST):c.19212A>G (p.Val6404=) rs2096396148 0.00001
NM_001374736.1(DST):c.1957C>T (p.Arg653Cys) rs377406538 0.00001
NM_001374736.1(DST):c.1964A>C (p.His655Pro) rs1236723592 0.00001
NM_001374736.1(DST):c.20548A>G (p.Lys6850Glu) rs371940285 0.00001
NM_001374736.1(DST):c.21289C>T (p.Arg7097Trp) rs752231990 0.00001
NM_001374736.1(DST):c.217-1G>A rs1310802903 0.00001
NM_001374736.1(DST):c.22060C>T (p.Pro7354Ser) rs376692141 0.00001
NM_001374736.1(DST):c.22838G>A (p.Arg7613Gln) rs767051612 0.00001
NM_001374736.1(DST):c.23215C>T (p.Arg7739Ter) rs1270744282 0.00001
NM_001374736.1(DST):c.3477G>A (p.Ala1159=) rs201509973 0.00001
NM_001374736.1(DST):c.3585T>C (p.Asn1195=) rs1213338072 0.00001
NM_001374736.1(DST):c.4321C>T (p.His1441Tyr) rs868279643 0.00001
NM_001374736.1(DST):c.4833C>G (p.Phe1611Leu) rs1563270846 0.00001
NM_001374736.1(DST):c.5199G>A (p.Gln1733=) rs552582917 0.00001
NM_001723.7(DST):c.3385A>G (p.Thr1129Ala) rs1373421698 0.00001
NM_001723.7(DST):c.3647G>A (p.Arg1216Gln) rs758665411 0.00001
NM_001723.7(DST):c.3935A>T (p.Lys1312Met) rs781104654 0.00001
NM_001723.7(DST):c.4399C>T (p.Arg1467Cys) rs1317981458 0.00001
NM_001723.7(DST):c.4568G>T (p.Cys1523Phe) rs1445938212 0.00001
NM_001723.7(DST):c.4993C>T (p.Gln1665Ter) rs774625619 0.00001
NM_001723.7(DST):c.5035A>T (p.Lys1679Ter) rs747680049 0.00001
NM_001723.7(DST):c.5586G>A (p.Leu1862=) rs762547836 0.00001
NM_001723.7(DST):c.5762T>C (p.Leu1921Ser) rs777300713 0.00001
NM_001723.7(DST):c.6007G>A (p.Ala2003Thr) rs74874398 0.00001
NM_001723.7(DST):c.6523G>A (p.Ala2175Thr) rs766809207 0.00001
NM_001723.7(DST):c.6604C>T (p.Pro2202Ser) rs774240712 0.00001
NM_001723.7(DST):c.6691A>G (p.Met2231Val) rs774919936 0.00001
NM_001723.7(DST):c.7219A>G (p.Ile2407Val) rs763849253 0.00001
NM_001723.7(DST):c.7692G>T (p.Gly2564=) rs1020828510 0.00001
NM_001723.7(DST):c.7909C>A (p.Pro2637Thr) rs763986013 0.00001
NM_001374736.1(DST):c.*253C>A rs79455288
NM_001374736.1(DST):c.10206A>G (p.Ala3402=)
NM_001374736.1(DST):c.10475T>A (p.Ile3492Asn)
NM_001374736.1(DST):c.10546T>C (p.Cys3516Arg)
NM_001374736.1(DST):c.10684T>C (p.Leu3562=)
NM_001374736.1(DST):c.10954G>A (p.Gly3652Arg)
NM_001374736.1(DST):c.109T>C (p.Cys37Arg)
NM_001374736.1(DST):c.11139T>G (p.Leu3713=)
NM_001374736.1(DST):c.1117C>A (p.Gln373Lys)
NM_001374736.1(DST):c.11223A>G (p.Ser3741=)
NM_001374736.1(DST):c.1147C>T (p.Arg383Trp)
NM_001374736.1(DST):c.11514T>C (p.His3838=)
NM_001374736.1(DST):c.11634A>G (p.Gln3878=)
NM_001374736.1(DST):c.11686A>G (p.Lys3896Glu)
NM_001374736.1(DST):c.11695-90_11695-89del rs59112401
NM_001374736.1(DST):c.11760CTT[1] (p.Phe3921del) rs754940406
NM_001374736.1(DST):c.11842T>G (p.Cys3948Gly) rs1554449844
NM_001374736.1(DST):c.12218C>T (p.Ser4073Phe) rs1277292455
NM_001374736.1(DST):c.12538T>C (p.Phe4180Leu) rs2152688654
NM_001374736.1(DST):c.12703C>T (p.Arg4235Trp) rs778888568
NM_001374736.1(DST):c.12727-94dup rs199510493
NM_001374736.1(DST):c.12888A>G (p.Gln4296=) rs201201114
NM_001374736.1(DST):c.12888A>T (p.Gln4296His) rs201201114
NM_001374736.1(DST):c.12903+179_12903+180dup rs34682914
NM_001374736.1(DST):c.12903+179_12903+181dup rs34682914
NM_001374736.1(DST):c.12903+179dup rs34682914
NM_001374736.1(DST):c.12903+200del rs34682914
NM_001374736.1(DST):c.12903+233A>C rs4712137
NM_001374736.1(DST):c.12903+259G>T rs4712136
NM_001374736.1(DST):c.13014C>G (p.Ile4338Met)
NM_001374736.1(DST):c.13024C>T (p.Leu4342Phe) rs778308562
NM_001374736.1(DST):c.13028-273del rs34399728
NM_001374736.1(DST):c.13200C>T (p.Asn4400=) rs2097816389
NM_001374736.1(DST):c.13236+46dup rs146489582
NM_001374736.1(DST):c.13237-213G>C rs1014310
NM_001374736.1(DST):c.1328-41A>G
NM_001374736.1(DST):c.13315A>G (p.Thr4439Ala)
NM_001374736.1(DST):c.13388A>G (p.His4463Arg) rs1585223385
NM_001374736.1(DST):c.13699A>T (p.Met4567Leu)
NM_001374736.1(DST):c.13701G>A (p.Met4567Ile) rs1445711960
NM_001374736.1(DST):c.13721+202T>G
NM_001374736.1(DST):c.13722-185G>A
NM_001374736.1(DST):c.13760C>T (p.Ala4587Val)
NM_001374736.1(DST):c.13825G>A (p.Val4609Ile) rs1031797194
NM_001374736.1(DST):c.14006-98_14006-97insTTTCAACACTCA rs79573569
NM_001374736.1(DST):c.14024G>T (p.Gly4675Val) rs748551099
NM_001374736.1(DST):c.14068+164A>G
NM_001374736.1(DST):c.14068+215del rs200885919
NM_001374736.1(DST):c.14311-6T>G
NM_001374736.1(DST):c.14367A>G (p.Lys4789=) rs1203098297
NM_001374736.1(DST):c.14386G>A (p.Glu4796Lys)
NM_001374736.1(DST):c.14440+63A>G
NM_001374736.1(DST):c.14573T>C (p.Met4858Thr) rs1031266084
NM_001374736.1(DST):c.14640+126G>A
NM_001374736.1(DST):c.14947A>C (p.Met4983Leu) rs188156383
NM_001374736.1(DST):c.15216G>A (p.Trp5072Ter) rs893650971
NM_001374736.1(DST):c.1545A>G (p.Val515=)
NM_001374736.1(DST):c.1554+141C>A rs74526825
NM_001374736.1(DST):c.15689A>G (p.Asn5230Ser)
NM_001374736.1(DST):c.15808A>G (p.Asn5270Asp)
NM_001374736.1(DST):c.15903G>A (p.Ser5301=) rs371189011
NM_001374736.1(DST):c.16074C>T (p.Thr5358=)
NM_001374736.1(DST):c.16625A>G (p.Glu5542Gly) rs761596011
NM_001374736.1(DST):c.16627A>T (p.Ile5543Phe)
NM_001374736.1(DST):c.16770+1G>T rs2152524452
NM_001374736.1(DST):c.16834C>T (p.Leu5612=)
NM_001374736.1(DST):c.1686A>G (p.Gln562=)
NM_001374736.1(DST):c.16895C>T (p.Pro5632Leu) rs1178200177
NM_001374736.1(DST):c.16896G>A (p.Pro5632=)
NM_001374736.1(DST):c.17016A>C (p.Thr5672=)
NM_001374736.1(DST):c.17108+5C>T
NM_001374736.1(DST):c.17125G>A (p.Gly5709Ser)
NM_001374736.1(DST):c.17467G>C (p.Ala5823Pro) rs2152511574
NM_001374736.1(DST):c.17497C>G (p.Leu5833Val) rs1584163798
NM_001374736.1(DST):c.17632G>A (p.Val5878Ile) rs2152510472
NM_001374736.1(DST):c.17698A>C (p.Ile5900Leu)
NM_001374736.1(DST):c.1778+215G>A rs78502474
NM_001374736.1(DST):c.177C>G (p.Ser59Arg)
NM_001374736.1(DST):c.17854G>T (p.Glu5952Ter) rs1341890249
NM_001374736.1(DST):c.17863T>C (p.Ser5955Pro)
NM_001374736.1(DST):c.18094GAG[1] (p.Glu6033del)
NM_001374736.1(DST):c.18180A>G (p.Lys6060=)
NM_001374736.1(DST):c.182-89A>G rs986245
NM_001374736.1(DST):c.18329G>A (p.Cys6110Tyr)
NM_001374736.1(DST):c.18417G>T (p.Arg6139Ser) rs1057519122
NM_001374736.1(DST):c.1872+36del
NM_001374736.1(DST):c.1872+73A>G rs1024195
NM_001374736.1(DST):c.18781-339A>G rs7743011
NM_001374736.1(DST):c.18781-83G>T rs9296849
NM_001374736.1(DST):c.18885G>T (p.Gln6295His)
NM_001374736.1(DST):c.19012+5T>A rs2152473679
NM_001374736.1(DST):c.19238A>T (p.Glu6413Val) rs1583469392
NM_001374736.1(DST):c.19369T>G (p.Ser6457Ala) rs2152468178
NM_001374736.1(DST):c.19419T>G (p.Leu6473=)
NM_001374736.1(DST):c.19566+55dup rs199766526
NM_001374736.1(DST):c.20095-24A>C rs73749938
NM_001374736.1(DST):c.20205G>T (p.Glu6735Asp) rs1324486479
NM_001374736.1(DST):c.20500C>T (p.Arg6834Trp) rs376924958
NM_001374736.1(DST):c.20550+48_20550+49dup rs376190394
NM_001374736.1(DST):c.20550+48dup rs376190394
NM_001374736.1(DST):c.20550+63del rs376190394
NM_001374736.1(DST):c.20550+64G>T rs943272045
NM_001374736.1(DST):c.20657A>G (p.Lys6886Arg)
NM_001374736.1(DST):c.2078C>G (p.Ser693Cys)
NM_001374736.1(DST):c.20916C>T (p.Tyr6972=) rs763815018
NM_001374736.1(DST):c.20987_20988dup (p.Asp6997fs)
NM_001374736.1(DST):c.21157C>A (p.Pro7053Thr) rs2095527058
NM_001374736.1(DST):c.21257A>G (p.Lys7086Arg)
NM_001374736.1(DST):c.21403-107dup rs59837501
NM_001374736.1(DST):c.21403-195dup rs57229740
NM_001374736.1(DST):c.21403-23TG[19] rs144810945
NM_001374736.1(DST):c.21403-23TG[8] rs144810945
NM_001374736.1(DST):c.21403-98_21403-97dup rs59837501
NM_001374736.1(DST):c.21476A>G (p.His7159Arg)
NM_001374736.1(DST):c.21509G>A (p.Arg7170Gln) rs201690182
NM_001374736.1(DST):c.21531+232A>C
NM_001374736.1(DST):c.21651A>T (p.Thr7217=)
NM_001374736.1(DST):c.21663G>A (p.Ala7221=)
NM_001374736.1(DST):c.21674A>G (p.Glu7225Gly)
NM_001374736.1(DST):c.21676-15_21676-14del rs540330544
NM_001374736.1(DST):c.217-255del rs539371079
NM_001374736.1(DST):c.217-270dup rs539371079
NM_001374736.1(DST):c.21756del (p.Ala7253fs) rs398122819
NM_001374736.1(DST):c.2181T>A (p.Pro727=) rs2152777551
NM_001374736.1(DST):c.21995-18G>C rs7746513
NM_001374736.1(DST):c.22314T>C (p.Leu7438=)
NM_001374736.1(DST):c.2242T>C (p.Ser748Pro)
NM_001374736.1(DST):c.22476+22C>G rs41271856
NM_001374736.1(DST):c.22476+22C>T rs41271856
NM_001374736.1(DST):c.22505G>A (p.Cys7502Tyr)
NM_001374736.1(DST):c.22552-79T>G rs41271854
NM_001374736.1(DST):c.22570-202dup rs34370097
NM_001374736.1(DST):c.22687+193dup rs11359681
NM_001374736.1(DST):c.22687+209_22687+210del rs11359681
NM_001374736.1(DST):c.22687+209_22687+210dup rs11359681
NM_001374736.1(DST):c.22687+210del rs11359681
NM_001374736.1(DST):c.22959+1G>A rs2094441686
NM_001374736.1(DST):c.23070+334dup rs201182725
NM_001374736.1(DST):c.23106A>G (p.Pro7702=)
NM_001374736.1(DST):c.23216G>A (p.Arg7739Gln)
NM_001374736.1(DST):c.2537A>C (p.Glu846Ala)
NM_001374736.1(DST):c.2852A>G (p.Tyr951Cys)
NM_001374736.1(DST):c.2965-72G>A rs16888081
NM_001374736.1(DST):c.3060+121TA[6] rs113851676
NM_001374736.1(DST):c.3060+145TA[6] rs375815463
NM_001374736.1(DST):c.3060+201TA[3] rs200544768
NM_001374736.1(DST):c.3186+220TG[4]
NM_001374736.1(DST):c.3186+243G>A rs78578315
NM_001374736.1(DST):c.3187-99_3187-96del
NM_001374736.1(DST):c.3340-91G>C rs75315270
NM_001374736.1(DST):c.3571C>T (p.His1191Tyr)
NM_001374736.1(DST):c.3577C>T (p.Leu1193Phe) rs1167020024
NM_001374736.1(DST):c.3622-158C>A rs60599813
NM_001374736.1(DST):c.3622-159dup rs199805475
NM_001374736.1(DST):c.3622-206_3622-197dup rs61647189
NM_001374736.1(DST):c.3622-207_3622-199dup rs61647189
NM_001374736.1(DST):c.3622-207_3622-200dup rs61647189
NM_001374736.1(DST):c.364C>G (p.Arg122Gly)
NM_001374736.1(DST):c.369C>G (p.Val123=)
NM_001374736.1(DST):c.3805G>A (p.Glu1269Lys) rs2152762214
NM_001374736.1(DST):c.3838A>G (p.Ile1280Val) rs1429684544
NM_001374736.1(DST):c.3884A>T (p.Asp1295Val) rs149475954
NM_001374736.1(DST):c.3935A>C (p.Glu1312Ala)
NM_001374736.1(DST):c.3963+87T>C rs111423030
NM_001374736.1(DST):c.3968T>C (p.Leu1323Pro) rs763647005
NM_001374736.1(DST):c.3986G>A (p.Arg1329Gln) rs763518239
NM_001374736.1(DST):c.4015A>G (p.Asn1339Asp)
NM_001374736.1(DST):c.4148A>C (p.Lys1383Thr)
NM_001374736.1(DST):c.414G>A (p.Arg138=)
NM_001374736.1(DST):c.417+190_417+193del rs3839585
NM_001374736.1(DST):c.418-8C>A
NM_001374736.1(DST):c.4281+248G>A rs79069052
NM_001374736.1(DST):c.4290A>T (p.Arg1430Ser) rs2098759106
NM_001374736.1(DST):c.4375A>C (p.Lys1459Gln)
NM_001374736.1(DST):c.4435G>A (p.Val1479Ile)
NM_001374736.1(DST):c.4456C>A (p.His1486Asn)
NM_001374736.1(DST):c.4476-114G>C rs41271878
NM_001374736.1(DST):c.4639-102G>A
NM_001374736.1(DST):c.4649C>T (p.Ser1550Phe) rs2152751692
NM_001374736.1(DST):c.4831-111G>A
NM_001374736.1(DST):c.4831-121G>T
NM_001374736.1(DST):c.4927G>A (p.Glu1643Lys)
NM_001374736.1(DST):c.4929+284C>T rs111346000
NM_001374736.1(DST):c.4929+3627_4929+3630del
NM_001374736.1(DST):c.4929+39G>A
NM_001374736.1(DST):c.4930-771dup rs3841165
NM_001374736.1(DST):c.4930-772_4930-771dup rs3841165
NM_001374736.1(DST):c.5029G>C (p.Ala1677Pro)
NM_001374736.1(DST):c.512C>T (p.Pro171Leu)
NM_001374736.1(DST):c.5147+123_5147+124insTTTAC rs10643818
NM_001374736.1(DST):c.5147+179del rs34186947
NM_001374736.1(DST):c.5243A>C (p.Gln1748Pro) rs61263396
NM_001374736.1(DST):c.5259A>C (p.Ser1753=)
NM_001374736.1(DST):c.528C>G (p.Thr176=)
NM_001374736.1(DST):c.5329G>A (p.Val1777Ile)
NM_001374736.1(DST):c.5403G>C (p.Gln1801His)
NM_001374736.1(DST):c.5511A>G (p.Glu1837=)
NM_001374736.1(DST):c.5574T>C (p.Ala1858=)
NM_001374736.1(DST):c.579G>T (p.Gly193=)
NM_001374736.1(DST):c.5858C>T (p.Pro1953Leu)
NM_001374736.1(DST):c.588G>A (p.Val196=)
NM_001374736.1(DST):c.6064A>G (p.Ser2022Gly)
NM_001374736.1(DST):c.6220T>C (p.Trp2074Arg)
NM_001374736.1(DST):c.625+120G>T rs13207768
NM_001374736.1(DST):c.625+7572C>G rs187523725
NM_001374736.1(DST):c.625+7643A>G rs868527883
NM_001374736.1(DST):c.625+7666_625+7672del rs1315268165
NM_001374736.1(DST):c.625+7678A>T rs1375825531
NM_001374736.1(DST):c.625+7685A>T rs185968827
NM_001374736.1(DST):c.625+8249G>C
NM_001374736.1(DST):c.626-282GTG[10] rs138864657
NM_001374736.1(DST):c.6301C>T (p.Leu2101=)
NM_001374736.1(DST):c.6302T>C (p.Leu2101Pro)
NM_001374736.1(DST):c.6421A>G (p.Ile2141Val)
NM_001374736.1(DST):c.6510C>G (p.Pro2170=)
NM_001374736.1(DST):c.6666C>T (p.Tyr2222=)
NM_001374736.1(DST):c.688-148dup
NM_001374736.1(DST):c.7241A>G (p.Asn2414Ser)
NM_001374736.1(DST):c.7535T>C (p.Met2512Thr)
NM_001374736.1(DST):c.7651G>A (p.Glu2551Lys)
NM_001374736.1(DST):c.7758T>G (p.Ser2586Arg)
NM_001374736.1(DST):c.8115A>G (p.Lys2705=)
NM_001374736.1(DST):c.8340C>T (p.Ser2780=)
NM_001374736.1(DST):c.86T>G (p.Ile29Ser) rs2127830246
NM_001374736.1(DST):c.9649C>T (p.His3217Tyr)
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001723.7(DST):c.3410C>T (p.Thr1137Ile) rs767671723
NM_001723.7(DST):c.3448C>T (p.Leu1150=)
NM_001723.7(DST):c.3565del (p.Ala1189fs) rs2152739843
NM_001723.7(DST):c.4171_4172delinsAT (p.Ala1391Ile)
NM_001723.7(DST):c.4303T>G (p.Ser1435Ala) rs376524283
NM_001723.7(DST):c.5057C>T (p.Ala1686Val)
NM_001723.7(DST):c.5385T>A (p.Leu1795=)
NM_001723.7(DST):c.5484T>A (p.Cys1828Ter)
NM_001723.7(DST):c.5499T>G (p.Asp1833Glu)
NM_001723.7(DST):c.5892C>T (p.Thr1964=) rs146263203
NM_001723.7(DST):c.5951A>G (p.Lys1984Arg) rs1461324464
NM_001723.7(DST):c.6048_6049dup (p.Ile2017fs) rs772013916
NM_001723.7(DST):c.6223G>C (p.Asp2075His)
NM_001723.7(DST):c.6275T>C (p.Leu2092Pro)
NM_001723.7(DST):c.6387dup (p.Asn2130Ter) rs2152731563
NM_001723.7(DST):c.6396del (p.Phe2132_Leu2133insTer) rs748845919
NM_001723.7(DST):c.6498G>A (p.Val2166=) rs539830067
NM_001723.7(DST):c.6555A>C (p.Ser2185=) rs1586749039
NM_001723.7(DST):c.6672A>C (p.Thr2224=) rs761923573
NM_001723.7(DST):c.7053C>G (p.Thr2351=) rs2230867
NM_001723.7(DST):c.7162del (p.Ser2388fs) rs758701051
NM_001723.7(DST):c.7543C>T (p.Gln2515Ter) rs1057524203
NM_001723.7(DST):c.7842T>A (p.Tyr2614Ter)
NM_001723.7(DST):c.7887_7891delinsGTA (p.Lys2630fs) rs1554497505

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