ClinVar Miner

List of variants in gene SI studied for not provided

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Gene type:
ClinVar version:
Total variants: 1258
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.4569G>A (p.Met1523Ile) rs4855271 0.92178
NM_001041.4(SI):c.3888+19C>T rs2290738 0.72200
NM_001041.4(SI):c.1797G>T (p.Ala599=) rs9838509 0.58296
NM_001041.4(SI):c.1437C>T (p.Asn479=) rs9290257 0.57954
NM_001041.4(SI):c.1512+25G>A rs9290256 0.57954
NM_001041.4(SI):c.1146+13A>C rs9290259 0.57783
NM_001041.4(SI):c.691A>G (p.Thr231Ala) rs9283633 0.56659
NM_001041.4(SI):c.43G>T (p.Val15Phe) rs9290264 0.26247
NM_001041.4(SI):c.*68T>C rs73018867 0.25607
NM_001041.4(SI):c.4026A>G (p.Thr1342=) rs74648160 0.10127
NM_001041.4(SI):c.4842-4C>T rs78032315 0.05892
NM_001041.4(SI):c.4779T>C (p.Phe1593=) rs78428100 0.05635
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser) rs9917722 0.05238
NM_001041.4(SI):c.5197+8C>T rs6799858 0.05235
NM_001041.4(SI):c.4927-19C>T rs1079879 0.02362
NM_001041.4(SI):c.4841+9A>G rs114438312 0.01984
NM_001041.4(SI):c.4044G>A (p.Thr1348=) rs75253993 0.01823
NM_001041.4(SI):c.483+4C>T rs13086543 0.01717
NM_001041.4(SI):c.517C>G (p.Pro173Ala) rs146960446 0.01365
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_001041.4(SI):c.692C>G (p.Thr231Ser) rs79468450 0.01059
NM_001041.4(SI):c.2737-8C>T rs771615823 0.00700
NM_001041.4(SI):c.2887A>C (p.Arg963=) rs113456182 0.00560
NM_001041.4(SI):c.123T>C (p.Ile41=) rs146222650 0.00551
NM_001041.4(SI):c.2515+19C>T rs145596375 0.00545
NM_001041.4(SI):c.1398+12T>C rs115295826 0.00514
NM_001041.4(SI):c.2923T>C (p.Tyr975His) rs146785675 0.00477
NM_001041.4(SI):c.1716-13G>A rs112259253 0.00456
NM_001041.4(SI):c.1212G>A (p.Ala404=) rs142838612 0.00391
NM_001041.4(SI):c.2678C>T (p.Ala893Val) rs145893756 0.00247
NM_001041.4(SI):c.4275A>G (p.Thr1425=) rs150151075 0.00243
NM_001041.4(SI):c.2395A>G (p.Ile799Val) rs150246328 0.00198
NM_001041.4(SI):c.4868A>C (p.Asp1623Ala) rs146899814 0.00187
NM_001041.4(SI):c.4721C>G (p.Thr1574Ser) rs139908762 0.00169
NM_001041.4(SI):c.3234G>A (p.Arg1078=) rs56082035 0.00167
NM_001041.4(SI):c.1111G>A (p.Val371Met) rs138434001 0.00165
NM_001041.4(SI):c.1218C>T (p.Asn406=) rs151296973 0.00152
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001041.4(SI):c.4951G>A (p.Val1651Ile) rs139876383 0.00149
NM_001041.4(SI):c.1043C>T (p.Pro348Leu) rs77546399 0.00138
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001041.4(SI):c.5247+3A>T rs182992081 0.00128
NM_001041.4(SI):c.3972A>G (p.Pro1324=) rs142838806 0.00116
NM_001041.4(SI):c.1146+9A>G rs114930150 0.00113
NM_001041.4(SI):c.3598C>T (p.Pro1200Ser) rs78013297 0.00113
NM_001041.4(SI):c.5301G>A (p.Thr1767=) rs150131334 0.00110
NM_001041.4(SI):c.2320A>G (p.Arg774Gly) rs147207752 0.00108
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys) rs79717168 0.00108
NM_001041.4(SI):c.2321G>A (p.Arg774Lys) rs143885457 0.00092
NM_001041.4(SI):c.3014A>C (p.Asn1005Thr) rs111316957 0.00087
NM_001041.4(SI):c.3100-14C>T rs112936656 0.00086
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn) rs149783130 0.00081
NM_001041.4(SI):c.825C>T (p.Tyr275=) rs139867598 0.00079
NM_001041.4(SI):c.2999A>C (p.Gln1000Pro) rs147226975 0.00070
NM_001041.4(SI):c.876C>T (p.Phe292=) rs139642816 0.00070
NM_001041.4(SI):c.5403C>T (p.Asp1801=) rs146830505 0.00066
NM_001041.4(SI):c.4541-18T>G rs111418304 0.00064
NM_001041.4(SI):c.5423G>A (p.Arg1808His) rs149654947 0.00058
NM_001041.4(SI):c.3466C>T (p.Leu1156=) rs144285578 0.00056
NM_001041.4(SI):c.484-8C>G rs201820421 0.00056
NM_001041.4(SI):c.2888G>A (p.Arg963Lys) rs148434280 0.00055
NM_001041.4(SI):c.3772A>G (p.Thr1258Ala) rs144579834 0.00054
NM_001041.4(SI):c.2892G>A (p.Thr964=) rs145486890 0.00051
NM_001041.4(SI):c.2343T>C (p.Tyr781=) rs539868642 0.00048
NM_001041.4(SI):c.4576-5T>C rs115606442 0.00048
NM_001041.4(SI):c.2721T>C (p.Tyr907=) rs140829463 0.00047
NM_001041.4(SI):c.1147-16A>T rs200526905 0.00046
NM_001041.4(SI):c.3634-14A>T rs199634091 0.00046
NM_001041.4(SI):c.1278+8T>G rs368886500 0.00045
NM_001041.4(SI):c.885T>C (p.Phe295=) rs141754766 0.00044
NM_001041.4(SI):c.2737G>T (p.Val913Phe) rs200328496 0.00041
NM_001041.4(SI):c.4268-14T>C rs201151548 0.00041
NM_001041.4(SI):c.5363C>T (p.Thr1788Met) rs146501096 0.00041
NM_001041.4(SI):c.4451G>A (p.Arg1484His) rs145246112 0.00039
NM_001041.4(SI):c.2789A>G (p.Gln930Arg) rs150927256 0.00038
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001041.4(SI):c.4268-12G>C rs200234624 0.00033
NM_001041.4(SI):c.808-8C>A rs200362873 0.00029
NM_001041.4(SI):c.1919A>G (p.Glu640Gly) rs142789249 0.00028
NM_001041.4(SI):c.322T>G (p.Phe108Val) rs146006371 0.00026
NM_001041.4(SI):c.5198-17T>C rs200228089 0.00026
NM_001041.4(SI):c.5367T>C (p.Tyr1789=) rs144206255 0.00026
NM_001041.4(SI):c.2301+20T>G rs576773147 0.00024
NM_001041.4(SI):c.1587G>A (p.Pro529=) rs531422962 0.00021
NM_001041.4(SI):c.3453C>T (p.Pro1151=) rs151179622 0.00021
NM_001041.4(SI):c.5384C>T (p.Ser1795Leu) rs139504152 0.00021
NM_001041.4(SI):c.2828G>C (p.Cys943Ser) rs375113759 0.00020
NM_001041.4(SI):c.1285G>A (p.Ala429Thr) rs556583179 0.00019
NM_001041.4(SI):c.1544G>T (p.Gly515Val) rs144972103 0.00019
NM_001041.4(SI):c.3732C>T (p.Asp1244=) rs200449490 0.00019
NM_001041.4(SI):c.4239C>T (p.Asp1413=) rs138374817 0.00019
NM_001041.4(SI):c.556T>C (p.Ser186Pro) rs142447888 0.00019
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr) rs375443860 0.00018
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile) rs371426683 0.00018
NM_001041.4(SI):c.1607A>T (p.Asp536Val) rs376816463 0.00016
NM_001041.4(SI):c.2740C>A (p.Leu914Ile) rs199706219 0.00016
NM_001041.4(SI):c.3424-9G>A rs200107559 0.00016
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys) rs187532711 0.00016
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala) rs758043919 0.00015
NM_001041.4(SI):c.5108+16A>G rs149803140 0.00015
NM_001041.4(SI):c.2150T>A (p.Val717Asp) rs188320908 0.00014
NM_001041.4(SI):c.325G>A (p.Val109Ile) rs149498200 0.00014
NM_001041.4(SI):c.3424-12T>C rs77749967 0.00014
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter) rs142090504 0.00014
NM_001041.4(SI):c.4950C>T (p.Tyr1650=) rs370336977 0.00014
NM_001041.4(SI):c.5109-15A>C rs371915462 0.00014
NM_001041.4(SI):c.639T>C (p.Phe213=) rs368517998 0.00014
NM_001041.4(SI):c.4540+4A>G rs201654919 0.00013
NM_001041.4(SI):c.5108+13T>C rs535082142 0.00013
NM_001041.4(SI):c.2159+12G>A rs376831754 0.00012
NM_001041.4(SI):c.4133T>G (p.Ile1378Ser) rs148831941 0.00012
NM_001041.4(SI):c.4849G>C (p.Asp1617His) rs202225928 0.00012
NM_001041.4(SI):c.118+10A>G rs200646132 0.00011
NM_001041.4(SI):c.198G>A (p.Val66=) rs180999823 0.00011
NM_001041.4(SI):c.2599T>C (p.Tyr867His) rs140230726 0.00011
NM_001041.4(SI):c.2714T>G (p.Phe905Cys) rs200768342 0.00011
NM_001041.4(SI):c.4062+13C>T rs202122683 0.00011
NM_001041.4(SI):c.4458G>A (p.Thr1486=) rs140287192 0.00011
NM_001041.4(SI):c.5247+17A>G rs370919384 0.00011
NM_001041.4(SI):c.5C>A (p.Ala2Glu) rs201612742 0.00011
NM_001041.4(SI):c.1378A>T (p.Ser460Cys) rs141450837 0.00010
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter) rs200451408 0.00010
NM_001041.4(SI):c.3371G>A (p.Arg1124Gln) rs201739571 0.00010
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser) rs138927818 0.00010
NM_001041.4(SI):c.4062+18T>C rs367787760 0.00010
NM_001041.4(SI):c.5198-4A>G rs549717091 0.00010
NM_001041.4(SI):c.1686T>C (p.Tyr562=) rs763063946 0.00009
NM_001041.4(SI):c.1694G>C (p.Ser565Thr) rs149898910 0.00009
NM_001041.4(SI):c.2086T>C (p.Leu696=) rs758664379 0.00009
NM_001041.4(SI):c.4000-18A>G rs764830211 0.00009
NM_001041.4(SI):c.5209A>G (p.Arg1737Gly) rs759533396 0.00009
NM_001041.4(SI):c.749G>A (p.Arg250His) rs530009542 0.00009
NM_001041.4(SI):c.931A>G (p.Ile311Val) rs148454534 0.00009
NM_001041.4(SI):c.1438C>A (p.Pro480Thr) rs752986538 0.00008
NM_001041.4(SI):c.2342A>T (p.Tyr781Phe) rs138275610 0.00008
NM_001041.4(SI):c.2679G>A (p.Ala893=) rs751964959 0.00008
NM_001041.4(SI):c.3331A>G (p.Ile1111Val) rs145913658 0.00008
NM_001041.4(SI):c.355A>T (p.Met119Leu) rs746151218 0.00008
NM_001041.4(SI):c.3905G>C (p.Gly1302Ala) rs780497188 0.00008
NM_001041.4(SI):c.4692+16A>C rs755033393 0.00008
NM_001041.4(SI):c.801T>C (p.Pro267=) rs752564085 0.00008
NM_001041.4(SI):c.808-14T>A rs762854920 0.00008
NM_001041.4(SI):c.2565+20A>C rs544155794 0.00007
NM_001041.4(SI):c.3424-10C>T rs367683519 0.00007
NM_001041.4(SI):c.4704C>T (p.Pro1568=) rs376053398 0.00007
NM_001041.4(SI):c.5049A>G (p.Leu1683=) rs199658617 0.00007
NM_001041.4(SI):c.1089G>A (p.Lys363=) rs778412409 0.00006
NM_001041.4(SI):c.1219G>A (p.Gly407Arg) rs559599846 0.00006
NM_001041.4(SI):c.1474A>G (p.Ile492Val) rs749139836 0.00006
NM_001041.4(SI):c.4873T>G (p.Phe1625Val) rs149414344 0.00006
NM_001041.4(SI):c.5198-7T>C rs200924086 0.00006
NM_001041.4(SI):c.5248-19C>T rs983283300 0.00006
NM_001041.4(SI):c.52G>C (p.Val18Leu) rs769222598 0.00006
NM_001041.4(SI):c.748C>T (p.Arg250Cys) rs200745562 0.00006
NM_001041.4(SI):c.1420T>C (p.Tyr474His) rs771986263 0.00005
NM_001041.4(SI):c.1851T>G (p.Thr617=) rs767454168 0.00005
NM_001041.4(SI):c.2074C>T (p.Arg692Cys) rs371618948 0.00005
NM_001041.4(SI):c.2380G>A (p.Gly794Ser) rs138778317 0.00005
NM_001041.4(SI):c.2894G>A (p.Gly965Asp) rs144419320 0.00005
NM_001041.4(SI):c.3099+20C>A rs763373058 0.00005
NM_001041.4(SI):c.3827A>G (p.Gln1276Arg) rs775422246 0.00005
NM_001041.4(SI):c.4000-15T>A rs201336234 0.00005
NM_001041.4(SI):c.4500C>T (p.Asp1500=) rs553547580 0.00005
NM_001041.4(SI):c.5300C>T (p.Thr1767Met) rs199881454 0.00005
NM_001041.4(SI):c.573T>C (p.Asp191=) rs927354199 0.00005
NM_001041.4(SI):c.627T>C (p.Gly209=) rs370540330 0.00005
NM_001041.4(SI):c.807+8A>G rs759240554 0.00005
NM_001041.4(SI):c.1780T>C (p.Ser594Pro) rs765433197 0.00004
NM_001041.4(SI):c.1837G>T (p.Glu613Ter) rs201055347 0.00004
NM_001041.4(SI):c.1887+8A>C rs372410648 0.00004
NM_001041.4(SI):c.1888-15A>G rs891554478 0.00004
NM_001041.4(SI):c.1943G>A (p.Arg648Lys) rs375458342 0.00004
NM_001041.4(SI):c.2004+20C>T rs776132864 0.00004
NM_001041.4(SI):c.2005-9A>G rs377207491 0.00004
NM_001041.4(SI):c.2159+11C>T rs761959886 0.00004
NM_001041.4(SI):c.2175G>A (p.Thr725=) rs1418353515 0.00004
NM_001041.4(SI):c.2516-18C>T rs373907450 0.00004
NM_001041.4(SI):c.2700C>T (p.Asn900=) rs752079960 0.00004
NM_001041.4(SI):c.2852C>G (p.Thr951Ser) rs769773706 0.00004
NM_001041.4(SI):c.2891C>T (p.Thr964Met) rs369115304 0.00004
NM_001041.4(SI):c.3417C>G (p.Pro1139=) rs150297357 0.00004
NM_001041.4(SI):c.3521A>T (p.Asp1174Val) rs750344760 0.00004
NM_001041.4(SI):c.364A>G (p.Thr122Ala) rs376103595 0.00004
NM_001041.4(SI):c.3699T>C (p.Tyr1233=) rs772719182 0.00004
NM_001041.4(SI):c.373+1G>A rs772671498 0.00004
NM_001041.4(SI):c.3760-7A>G rs367956129 0.00004
NM_001041.4(SI):c.3955G>A (p.Val1319Ile) rs376972966 0.00004
NM_001041.4(SI):c.4000-20C>A rs545082301 0.00004
NM_001041.4(SI):c.4227A>G (p.Gln1409=) rs994143302 0.00004
NM_001041.4(SI):c.4406+10G>A rs373609119 0.00004
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile) rs376437234 0.00004
NM_001041.4(SI):c.460A>G (p.Thr154Ala) rs370128189 0.00004
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys) rs767701775 0.00004
NM_001041.4(SI):c.4692+12C>T rs199581970 0.00004
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr) rs369134336 0.00004
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter) rs779803851 0.00004
NM_001041.4(SI):c.5346C>G (p.Val1782=) rs754670401 0.00004
NM_001041.4(SI):c.551C>T (p.Thr184Ile) rs193172680 0.00004
NM_001041.4(SI):c.695G>A (p.Arg232His) rs747345955 0.00004
NM_001041.4(SI):c.807+4A>G rs541491902 0.00004
NM_001041.4(SI):c.1-15C>A rs201424057 0.00003
NM_001041.4(SI):c.1715+8C>A rs373673328 0.00003
NM_001041.4(SI):c.1762C>T (p.Arg588Cys) rs201583834 0.00003
NM_001041.4(SI):c.1995C>T (p.Asp665=) rs757380218 0.00003
NM_001041.4(SI):c.2117C>T (p.Ala706Val) rs753557397 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001041.4(SI):c.2566-11A>G rs747570138 0.00003
NM_001041.4(SI):c.2737-19T>C rs1175015417 0.00003
NM_001041.4(SI):c.2966G>A (p.Arg989His) rs757155810 0.00003
NM_001041.4(SI):c.2970T>C (p.Tyr990=) rs375776729 0.00003
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala) rs768100667 0.00003
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala) rs202077921 0.00003
NM_001041.4(SI):c.3715G>C (p.Val1239Leu) rs41273567 0.00003
NM_001041.4(SI):c.375A>G (p.Gly125=) rs960922254 0.00003
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr) rs779805310 0.00003
NM_001041.4(SI):c.4062+11C>T rs747768310 0.00003
NM_001041.4(SI):c.417T>G (p.Phe139Leu) rs758407768 0.00003
NM_001041.4(SI):c.453A>G (p.Gln151=) rs374104171 0.00003
NM_001041.4(SI):c.4540+15C>T rs200664923 0.00003
NM_001041.4(SI):c.477G>C (p.Arg159=) rs746476544 0.00003
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter) rs200328403 0.00003
NM_001041.4(SI):c.5052T>G (p.His1684Gln) rs748153693 0.00003
NM_001041.4(SI):c.5266A>G (p.Ile1756Val) rs535971512 0.00003
NM_001041.4(SI):c.636-20T>G rs1158903365 0.00003
NM_001041.4(SI):c.896G>A (p.Ser299Asn) rs367672931 0.00003
NM_001041.4(SI):c.1106A>G (p.Lys369Arg) rs756534501 0.00002
NM_001041.4(SI):c.1146+20C>T rs528805447 0.00002
NM_001041.4(SI):c.1191C>T (p.Asp397=) rs371899717 0.00002
NM_001041.4(SI):c.1303C>T (p.Arg435Cys) rs370325800 0.00002
NM_001041.4(SI):c.1305T>C (p.Arg435=) rs748055276 0.00002
NM_001041.4(SI):c.1311T>C (p.Asn437=) rs886058149 0.00002
NM_001041.4(SI):c.1389T>C (p.Ile463=) rs747666337 0.00002
NM_001041.4(SI):c.1513-1G>A rs767159890 0.00002
NM_001041.4(SI):c.1569C>T (p.Asn523=) rs758514318 0.00002
NM_001041.4(SI):c.1616T>C (p.Met539Thr) rs749835475 0.00002
NM_001041.4(SI):c.1617G>A (p.Met539Ile) rs568842900 0.00002
NM_001041.4(SI):c.1736C>G (p.Pro579Arg) rs753733668 0.00002
NM_001041.4(SI):c.178T>C (p.Ser60Pro) rs755487744 0.00002
NM_001041.4(SI):c.2005-3C>T rs774245762 0.00002
NM_001041.4(SI):c.2028G>A (p.Gly676=) rs763718159 0.00002
NM_001041.4(SI):c.2080A>T (p.Thr694Ser) rs780664460 0.00002
NM_001041.4(SI):c.2124G>T (p.Val708=) rs767532105 0.00002
NM_001041.4(SI):c.2427-14A>T rs111815667 0.00002
NM_001041.4(SI):c.2566-4T>C rs369758753 0.00002
NM_001041.4(SI):c.2600A>C (p.Tyr867Ser) rs760055757 0.00002
NM_001041.4(SI):c.2737-13T>G rs551368978 0.00002
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn) rs376341511 0.00002
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro) rs121912611 0.00002
NM_001041.4(SI):c.3888+12G>A rs766861562 0.00002
NM_001041.4(SI):c.4000-8T>C rs369270913 0.00002
NM_001041.4(SI):c.4062+14G>A rs746445689 0.00002
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu) rs574552408 0.00002
NM_001041.4(SI):c.4407-4T>C rs368459676 0.00002
NM_001041.4(SI):c.4805C>T (p.Ala1602Val) rs757720132 0.00002
NM_001041.4(SI):c.483+5G>C rs374498106 0.00002
NM_001041.4(SI):c.4927-10T>C rs374399583 0.00002
NM_001041.4(SI):c.5109-3T>C rs202110241 0.00002
NM_001041.4(SI):c.5247+11T>C rs375455220 0.00002
NM_001041.4(SI):c.5248-2A>C rs1298467427 0.00002
NM_001041.4(SI):c.5320G>A (p.Val1774Ile) rs771335037 0.00002
NM_001041.4(SI):c.5415+20A>G rs777037164 0.00002
NM_001041.4(SI):c.5415+9T>C rs770289974 0.00002
NM_001041.4(SI):c.5444_5445del (p.Asn1815fs) rs745476019 0.00002
NM_001041.4(SI):c.560A>G (p.Asp187Gly) rs771682590 0.00002
NM_001041.4(SI):c.636-14C>T rs746808951 0.00002
NM_001041.4(SI):c.653G>T (p.Gly218Val) rs775308282 0.00002
NM_001041.4(SI):c.764G>T (p.Trp255Leu) rs747468539 0.00002
NM_001041.4(SI):c.788G>A (p.Arg263Gln) rs143135955 0.00002
NM_001041.4(SI):c.930A>G (p.Pro310=) rs768246833 0.00002
NM_001041.4(SI):c.969T>C (p.Phe323=) rs780057549 0.00002
NM_001041.4(SI):c.1026T>C (p.Val342=) rs1310036972 0.00001
NM_001041.4(SI):c.1057C>A (p.Leu353Ile) rs539049352 0.00001
NM_001041.4(SI):c.1103T>A (p.Val368Glu) rs1713907068 0.00001
NM_001041.4(SI):c.1147-6T>A rs146539849 0.00001
NM_001041.4(SI):c.1163A>G (p.Asp388Gly) rs748610903 0.00001
NM_001041.4(SI):c.118+7A>G rs1306487127 0.00001
NM_001041.4(SI):c.1217A>C (p.Asn406Thr) rs777261367 0.00001
NM_001041.4(SI):c.1278+11A>G rs756042084 0.00001
NM_001041.4(SI):c.1449T>A (p.Ile483=) rs752059256 0.00001
NM_001041.4(SI):c.1513-17A>T rs1713339592 0.00001
NM_001041.4(SI):c.1513-7C>T rs763896325 0.00001
NM_001041.4(SI):c.1526T>C (p.Val509Ala) rs551453053 0.00001
NM_001041.4(SI):c.1564G>A (p.Val522Ile) rs1015086459 0.00001
NM_001041.4(SI):c.1712A>G (p.Glu571Gly) rs754623301 0.00001
NM_001041.4(SI):c.1716-3T>C rs768911081 0.00001
NM_001041.4(SI):c.1745G>A (p.Arg582Lys) rs1422477424 0.00001
NM_001041.4(SI):c.1796C>T (p.Ala599Val) rs747388124 0.00001
NM_001041.4(SI):c.186A>G (p.Lys62=) rs368169891 0.00001
NM_001041.4(SI):c.196G>A (p.Val66Met) rs1338704598 0.00001
NM_001041.4(SI):c.2004+9C>G rs369552398 0.00001
NM_001041.4(SI):c.2079C>T (p.Tyr693=) rs1216505167 0.00001
NM_001041.4(SI):c.2081C>G (p.Thr694Ser) rs1712801599 0.00001
NM_001041.4(SI):c.2176A>G (p.Asn726Asp) rs376939576 0.00001
NM_001041.4(SI):c.2195C>T (p.Thr732Ile) rs772060606 0.00001
NM_001041.4(SI):c.2279C>T (p.Ala760Val) rs757068502 0.00001
NM_001041.4(SI):c.2301+9C>T rs767681900 0.00001
NM_001041.4(SI):c.2338A>G (p.Met780Val) rs770724135 0.00001
NM_001041.4(SI):c.2400A>G (p.Gln800=) rs769686878 0.00001
NM_001041.4(SI):c.2422G>A (p.Ala808Thr) rs1356341778 0.00001
NM_001041.4(SI):c.2450T>C (p.Ile817Thr) rs551284637 0.00001
NM_001041.4(SI):c.2455G>A (p.Ala819Thr) rs542969966 0.00001
NM_001041.4(SI):c.2479A>G (p.Lys827Glu) rs1712533082 0.00001
NM_001041.4(SI):c.2517T>A (p.Asp839Glu) rs778760506 0.00001
NM_001041.4(SI):c.256-11T>C rs774064699 0.00001
NM_001041.4(SI):c.2562T>G (p.Ser854=) rs769960624 0.00001
NM_001041.4(SI):c.2589A>G (p.Thr863=) rs377251476 0.00001
NM_001041.4(SI):c.2593T>G (p.Ser865Ala) rs775663304 0.00001
NM_001041.4(SI):c.25T>C (p.Leu9=) rs1263778809 0.00001
NM_001041.4(SI):c.2675T>C (p.Val892Ala) rs758186369 0.00001
NM_001041.4(SI):c.2681A>G (p.Glu894Gly) rs756233137 0.00001
NM_001041.4(SI):c.2737-18_2737-17insC rs753867865 0.00001
NM_001041.4(SI):c.2737-6T>C rs1326901128 0.00001
NM_001041.4(SI):c.275G>C (p.Gly92Ala) rs1472425299 0.00001
NM_001041.4(SI):c.2795A>G (p.Asn932Ser) rs1474224236 0.00001
NM_001041.4(SI):c.2847G>A (p.Leu949=) rs562540561 0.00001
NM_001041.4(SI):c.2862G>A (p.Lys954=) rs377552984 0.00001
NM_001041.4(SI):c.2893-8G>A rs1323621534 0.00001
NM_001041.4(SI):c.2965C>T (p.Arg989Cys) rs764857009 0.00001
NM_001041.4(SI):c.3063G>A (p.Glu1021=) rs201835284 0.00001
NM_001041.4(SI):c.3155C>T (p.Thr1052Ile) rs1711601237 0.00001
NM_001041.4(SI):c.3156C>A (p.Thr1052=) rs751262158 0.00001
NM_001041.4(SI):c.315G>T (p.Trp105Cys) rs138564183 0.00001
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter) rs1000661675 0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile) rs1307836828 0.00001
NM_001041.4(SI):c.3266G>A (p.Trp1089Ter) rs774109373 0.00001
NM_001041.4(SI):c.3309G>A (p.Ser1103=) rs765589827 0.00001
NM_001041.4(SI):c.330T>C (p.Asp110=) rs368763556 0.00001
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile) rs140725570 0.00001
NM_001041.4(SI):c.3423+11A>G rs770815174 0.00001
NM_001041.4(SI):c.3423+3A>G rs766943944 0.00001
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys) rs966189337 0.00001
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala) rs753519683 0.00001
NM_001041.4(SI):c.3541C>T (p.Pro1181Ser) rs751839993 0.00001
NM_001041.4(SI):c.3559A>G (p.Thr1187Ala) rs773362089 0.00001
NM_001041.4(SI):c.3562G>A (p.Val1188Ile) rs372654793 0.00001
NM_001041.4(SI):c.3621G>A (p.Lys1207=) rs1290117349 0.00001
NM_001041.4(SI):c.3663T>C (p.Tyr1221=) rs767992819 0.00001
NM_001041.4(SI):c.3681A>G (p.Gln1227=) rs142211278 0.00001
NM_001041.4(SI):c.3759+8T>C rs772702834 0.00001
NM_001041.4(SI):c.3798G>A (p.Gln1266=) rs762578467 0.00001
NM_001041.4(SI):c.3896C>A (p.Ala1299Glu) rs1559990008 0.00001
NM_001041.4(SI):c.3907A>C (p.Asn1303His) rs1718968622 0.00001
NM_001041.4(SI):c.4008A>G (p.Pro1336=) rs747858019 0.00001
NM_001041.4(SI):c.4009G>A (p.Asp1337Asn) rs1218565442 0.00001
NM_001041.4(SI):c.4037C>T (p.Thr1346Ile) rs750118266 0.00001
NM_001041.4(SI):c.4134T>A (p.Ile1378=) rs1050949602 0.00001
NM_001041.4(SI):c.4179+3A>G rs921202443 0.00001
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr) rs761717351 0.00001
NM_001041.4(SI):c.432C>T (p.Asn144=) rs752904026 0.00001
NM_001041.4(SI):c.4341A>G (p.Gly1447=) rs372577107 0.00001
NM_001041.4(SI):c.4374C>A (p.Leu1458=) rs1238173016 0.00001
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr) rs796683088 0.00001
NM_001041.4(SI):c.4404T>A (p.His1468Gln) rs201768364 0.00001
NM_001041.4(SI):c.4406+18T>G rs1198902907 0.00001
NM_001041.4(SI):c.4418A>G (p.Lys1473Arg) rs528294901 0.00001
NM_001041.4(SI):c.4428A>G (p.Gly1476=) rs1234871176 0.00001
NM_001041.4(SI):c.4439T>C (p.Ile1480Thr) rs756673922 0.00001
NM_001041.4(SI):c.4472G>A (p.Gly1491Glu) rs769141131 0.00001
NM_001041.4(SI):c.4475G>A (p.Arg1492Gln) rs369855589 0.00001
NM_001041.4(SI):c.4510C>T (p.Arg1504Ter) rs1164456060 0.00001
NM_001041.4(SI):c.4538T>A (p.Ile1513Asn) rs1219075046 0.00001
NM_001041.4(SI):c.4543A>G (p.Met1515Val) rs1301172097 0.00001
NM_001041.4(SI):c.4576-12A>G rs771364276 0.00001
NM_001041.4(SI):c.4594G>T (p.Gly1532Cys) rs1718024321 0.00001
NM_001041.4(SI):c.4791G>A (p.Met1597Ile) rs758507059 0.00001
NM_001041.4(SI):c.4799T>C (p.Ile1600Thr) rs1259902988 0.00001
NM_001041.4(SI):c.4926+12C>A rs1717789764 0.00001
NM_001041.4(SI):c.5248-12C>T rs745994654 0.00001
NM_001041.4(SI):c.5248-13T>C rs1460111932 0.00001
NM_001041.4(SI):c.5248-18C>T rs772233521 0.00001
NM_001041.4(SI):c.5304G>A (p.Arg1768=) rs772347173 0.00001
NM_001041.4(SI):c.563C>T (p.Thr188Met) rs1714300907 0.00001
NM_001041.4(SI):c.580G>T (p.Val194Phe) rs371768147 0.00001
NM_001041.4(SI):c.59T>A (p.Val20Asp) rs771580575 0.00001
NM_001041.4(SI):c.611T>C (p.Ile204Thr) rs377040463 0.00001
NM_001041.4(SI):c.624C>T (p.Asn208=) rs769677927 0.00001
NM_001041.4(SI):c.711T>C (p.Tyr237=) rs374691704 0.00001
NM_001041.4(SI):c.717T>A (p.Tyr239Ter) rs753398539 0.00001
NM_001041.4(SI):c.752A>T (p.His251Leu) rs768888806 0.00001
NM_001041.4(SI):c.778A>G (p.Ile260Val) rs1334827980 0.00001
NM_001041.4(SI):c.832C>T (p.Gln278Ter) rs754468827 0.00001
NM_001041.4(SI):c.837A>G (p.Thr279=) rs571049231 0.00001
NM_001041.4(SI):c.905T>C (p.Met302Thr) rs1167410422 0.00001
NM_001041.4(SI):c.917T>G (p.Ile306Ser) rs369903847 0.00001
NM_001041.4(SI):c.94G>A (p.Ala32Thr) rs1270566242 0.00001
NM_001041.4(SI):c.963G>A (p.Leu321=) rs562469691 0.00001
NM_001041.4(SI):c.965A>T (p.Asp322Val) rs751813346 0.00001
NM_001041.4(SI):c.978T>C (p.Leu326=) rs138644737 0.00001
GRCh37/hg19 3q26.1(chr3:164460778-164783346)x3
NC_000003.11:g.(?_161422793)_(164741448_?)del
NC_000003.11:g.(?_164697150)_(164793800_?)dup
NC_000003.11:g.(?_164709121)_(164793800_?)dup
NC_000003.11:g.(?_164709945)_(164716481_?)dup
NC_000003.11:g.(?_164737370)_(164737578_?)del
NC_000003.11:g.(?_164764609)_(164777835_?)del
NC_000003.11:g.(?_164772962)_(164773115_?)dup
NC_000003.11:g.(?_164781210)_(164793800_?)del
NC_000003.11:g.(?_164785108)_(164793800_?)dup
NC_000003.11:g.(?_164793663)_(164793800_?)del
NC_000003.12:g.165023777del
NC_000003.12:g.165062482CT[1]
NM_001041.4(SI):c.1015C>T (p.Gln339Ter)
NM_001041.4(SI):c.1018C>G (p.Gln340Glu) rs2108253868
NM_001041.4(SI):c.1020+11_1020+16del
NM_001041.4(SI):c.1020+12G>A
NM_001041.4(SI):c.1020+15T>G
NM_001041.4(SI):c.1020+6T>C
NM_001041.4(SI):c.1020+8T>G
NM_001041.4(SI):c.1021-13C>T
NM_001041.4(SI):c.1021-15C>A
NM_001041.4(SI):c.1021-16G>A rs773212493
NM_001041.4(SI):c.1021-18A>T
NM_001041.4(SI):c.1021-3A>G
NM_001041.4(SI):c.1023del (p.Val342fs)
NM_001041.4(SI):c.1029A>G (p.Gly343=)
NM_001041.4(SI):c.1052G>T (p.Trp351Leu)
NM_001041.4(SI):c.1068A>G (p.Gln356=)
NM_001041.4(SI):c.1079G>A (p.Trp360Ter) rs267599669
NM_001041.4(SI):c.1089G>T (p.Lys363Asn) rs778412409
NM_001041.4(SI):c.1098T>A (p.Asp366Glu)
NM_001041.4(SI):c.1137C>A (p.Gly379=)
NM_001041.4(SI):c.1142C>T (p.Pro381Leu)
NM_001041.4(SI):c.1146+1G>A
NM_001041.4(SI):c.1146+20C>A
NM_001041.4(SI):c.1147-15T>A
NM_001041.4(SI):c.1147-15T>C
NM_001041.4(SI):c.1147-17A>G
NM_001041.4(SI):c.1147-2A>G
NM_001041.4(SI):c.1147-7C>T
NM_001041.4(SI):c.1155G>A (p.Gln385=)
NM_001041.4(SI):c.1164T>C (p.Asp388=)
NM_001041.4(SI):c.1166T>A (p.Ile389Asn) rs150428844
NM_001041.4(SI):c.1169A>G (p.Asp390Gly)
NM_001041.4(SI):c.1172A>G (p.Tyr391Cys)
NM_001041.4(SI):c.1175T>G (p.Met392Arg)
NM_001041.4(SI):c.117T>C (p.Asp39=)
NM_001041.4(SI):c.118+5G>T
NM_001041.4(SI):c.119-11dup rs533057264
NM_001041.4(SI):c.119-15T>C
NM_001041.4(SI):c.119-17G>A
NM_001041.4(SI):c.119-6C>T
NM_001041.4(SI):c.1200T>C (p.Tyr400=)
NM_001041.4(SI):c.1201G>A (p.Asp401Asn) rs267599668
NM_001041.4(SI):c.1207G>A (p.Val403Ile)
NM_001041.4(SI):c.1211C>G (p.Ala404Gly)
NM_001041.4(SI):c.1211C>T (p.Ala404Val)
NM_001041.4(SI):c.1221A>G (p.Gly407=)
NM_001041.4(SI):c.1251C>T (p.Asp417=)
NM_001041.4(SI):c.126T>G (p.Ser42Arg)
NM_001041.4(SI):c.1271T>A (p.Ile424Asn) rs1560012386
NM_001041.4(SI):c.1278+11A>T
NM_001041.4(SI):c.1278+13T>C
NM_001041.4(SI):c.1278+20T>C
NM_001041.4(SI):c.1278+2T>A
NM_001041.4(SI):c.1279-18T>C rs2108248547
NM_001041.4(SI):c.1279-6T>C
NM_001041.4(SI):c.1294A>G (p.Ile432Val) rs112053533
NM_001041.4(SI):c.1304G>A (p.Arg435His)
NM_001041.4(SI):c.1306G>A (p.Ala436Thr)
NM_001041.4(SI):c.130T>A (p.Ser44Thr)
NM_001041.4(SI):c.1317A>G (p.Thr439=)
NM_001041.4(SI):c.1328C>A (p.Thr443Asn)
NM_001041.4(SI):c.1335G>A (p.Glu445=)
NM_001041.4(SI):c.1343A>G (p.Asn448Ser) rs2108248318
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del) rs1446666305
NM_001041.4(SI):c.134C>A (p.Thr45Asn)
NM_001041.4(SI):c.1351C>T (p.His451Tyr)
NM_001041.4(SI):c.1356G>A (p.Val452=)
NM_001041.4(SI):c.1368G>A (p.Glu456=)
NM_001041.4(SI):c.1374T>C (p.Asp458=)
NM_001041.4(SI):c.1375G>T (p.Gly459Ter)
NM_001041.4(SI):c.1376G>A (p.Gly459Glu)
NM_001041.4(SI):c.1383A>G (p.Thr461=)
NM_001041.4(SI):c.1391T>C (p.Ile464Thr)
NM_001041.4(SI):c.1394G>A (p.Gly465Glu) rs2108248197
NM_001041.4(SI):c.1398+16T>C
NM_001041.4(SI):c.1398+20A>G rs2108248146
NM_001041.4(SI):c.1399-10A>C
NM_001041.4(SI):c.1399-13T>C
NM_001041.4(SI):c.1419A>G (p.Val473=)
NM_001041.4(SI):c.1422C>T (p.Tyr474=)
NM_001041.4(SI):c.1450G>A (p.Asp484Asn)
NM_001041.4(SI):c.1454G>A (p.Trp485Ter)
NM_001041.4(SI):c.1478T>C (p.Phe493Ser)
NM_001041.4(SI):c.1484A>C (p.Gln495Pro) rs2108242199
NM_001041.4(SI):c.1486G>C (p.Glu496Gln) rs2108242185
NM_001041.4(SI):c.1496A>C (p.Tyr499Ser) rs2108242167
NM_001041.4(SI):c.1503A>G (p.Gly501=)
NM_001041.4(SI):c.1506T>C (p.Leu502=)
NM_001041.4(SI):c.1506T>G (p.Leu502=) rs113511967
NM_001041.4(SI):c.1507T>C (p.Trp503Arg)
NM_001041.4(SI):c.1512+10dup
NM_001041.4(SI):c.1512+19C>G
NM_001041.4(SI):c.1513-20T>C
NM_001041.4(SI):c.1513-3C>A
NM_001041.4(SI):c.1513-9T>C
NM_001041.4(SI):c.154C>T (p.Arg52Cys)
NM_001041.4(SI):c.1555G>A (p.Gly519Arg)
NM_001041.4(SI):c.1567A>C (p.Asn523His) rs780055379
NM_001041.4(SI):c.1573T>C (p.Leu525=)
NM_001041.4(SI):c.1583C>T (p.Pro528Leu)
NM_001041.4(SI):c.1592C>T (p.Thr531Ile)
NM_001041.4(SI):c.1597+18A>G
NM_001041.4(SI):c.1597+19T>C
NM_001041.4(SI):c.1597+20C>T
NM_001041.4(SI):c.1597+4A>G
NM_001041.4(SI):c.1598-12A>T
NM_001041.4(SI):c.1598-1G>A rs1255541938
NM_001041.4(SI):c.1598-7C>G
NM_001041.4(SI):c.15_16del (p.Lys5fs)
NM_001041.4(SI):c.160A>G (p.Thr54Ala) rs544498038
NM_001041.4(SI):c.1614C>A (p.Leu538=)
NM_001041.4(SI):c.1619A>G (p.Tyr540Cys)
NM_001041.4(SI):c.1623C>A (p.Ser541=)
NM_001041.4(SI):c.1653C>T (p.Asn551=)
NM_001041.4(SI):c.1657G>A (p.Gly553Ser)
NM_001041.4(SI):c.165A>C (p.Thr55=)
NM_001041.4(SI):c.1663C>G (p.Gln555Glu)
NM_001041.4(SI):c.1668T>C (p.Tyr556=)
NM_001041.4(SI):c.1692C>G (p.Tyr564Ter)
NM_001041.4(SI):c.1692C>T (p.Tyr564=)
NM_001041.4(SI):c.1698G>A (p.Met566Ile) rs2108232085
NM_001041.4(SI):c.1699G>A (p.Ala567Thr)
NM_001041.4(SI):c.1702A>G (p.Ile568Val)
NM_001041.4(SI):c.1715+7G>C
NM_001041.4(SI):c.1716-14G>T rs1375710997
NM_001041.4(SI):c.1716-7T>C
NM_001041.4(SI):c.1716-9del rs2108228622
NM_001041.4(SI):c.1716A>G (p.Gln572=)
NM_001041.4(SI):c.1718C>T (p.Ala573Val)
NM_001041.4(SI):c.1720G>C (p.Val574Leu)
NM_001041.4(SI):c.1723C>G (p.Gln575Glu) rs922858667
NM_001041.4(SI):c.1728A>G (p.Lys576=)
NM_001041.4(SI):c.1730T>A (p.Val577Asp)
NM_001041.4(SI):c.1739A>G (p.Asn580Ser)
NM_001041.4(SI):c.1743G>A (p.Lys581=)
NM_001041.4(SI):c.1748G>A (p.Ser583Asn)
NM_001041.4(SI):c.1753A>G (p.Ile585Val)
NM_001041.4(SI):c.1760C>G (p.Thr587Ser) rs2108228512
NM_001041.4(SI):c.1763G>A (p.Arg588His)
NM_001041.4(SI):c.1771T>C (p.Phe591Leu) rs2108228473
NM_001041.4(SI):c.1785A>C (p.Gly595=)
NM_001041.4(SI):c.1788A>G (p.Arg596=)
NM_001041.4(SI):c.1788del (p.Arg596fs)
NM_001041.4(SI):c.1793C>G (p.Ala598Gly) rs1447266919
NM_001041.4(SI):c.1797G>A (p.Ala599=)
NM_001041.4(SI):c.1797_1798delinsTT (p.His600Tyr) rs2108228402
NM_001041.4(SI):c.180A>G (p.Ser60=)
NM_001041.4(SI):c.1825T>C (p.Trp609Arg)
NM_001041.4(SI):c.1826G>T (p.Trp609Leu)
NM_001041.4(SI):c.1836G>T (p.Met612Ile)
NM_001041.4(SI):c.1846A>G (p.Ile616Val)
NM_001041.4(SI):c.1849dup (p.Thr617fs) rs1560006328
NM_001041.4(SI):c.1860G>A (p.Leu620=) rs1713141357
NM_001041.4(SI):c.1887+8A>T rs372410648
NM_001041.4(SI):c.1888-12T>A
NM_001041.4(SI):c.1888-13A>G
NM_001041.4(SI):c.1888-13A>T
NM_001041.4(SI):c.1889T>C (p.Val630Ala)
NM_001041.4(SI):c.1896A>C (p.Ala632=)
NM_001041.4(SI):c.1897G>A (p.Asp633Asn)
NM_001041.4(SI):c.1910delinsGTCTTC (p.Phe637fs)
NM_001041.4(SI):c.1916C>T (p.Ala639Val)
NM_001041.4(SI):c.1933C>G (p.Leu645Val) rs769364000
NM_001041.4(SI):c.1936del (p.Cys646fs) rs775994398
NM_001041.4(SI):c.1939A>C (p.Arg647=)
NM_001041.4(SI):c.1940del (p.Arg647fs) rs2108222774
NM_001041.4(SI):c.1945T>C (p.Trp649Arg) rs1190036495
NM_001041.4(SI):c.194A>G (p.Asn65Ser) rs2108114443
NM_001041.4(SI):c.1962A>G (p.Ala654=)
NM_001041.4(SI):c.1969C>T (p.Pro657Ser)
NM_001041.4(SI):c.1973T>C (p.Phe658Ser) rs2108222701
NM_001041.4(SI):c.1996G>A (p.Gly666Arg)
NM_001041.4(SI):c.2004+14G>T rs2108222599
NM_001041.4(SI):c.2004+15T>C
NM_001041.4(SI):c.2004+8C>T
NM_001041.4(SI):c.2005-11C>T
NM_001041.4(SI):c.2005-12T>A
NM_001041.4(SI):c.2005-13T>C
NM_001041.4(SI):c.2005-13_2005-10del
NM_001041.4(SI):c.2005-15C>T rs2108219271
NM_001041.4(SI):c.2005-7C>G rs2108219240
NM_001041.4(SI):c.2007T>C (p.His669=)
NM_001041.4(SI):c.2028dup (p.Gln677fs)
NM_001041.4(SI):c.2029C>A (p.Gln677Lys)
NM_001041.4(SI):c.2052A>C (p.Ser684=)
NM_001041.4(SI):c.2058G>A (p.Arg686=)
NM_001041.4(SI):c.2076C>G (p.Arg692=) rs1712802083
NM_001041.4(SI):c.2081C>A (p.Thr694Asn)
NM_001041.4(SI):c.2081C>T (p.Thr694Ile)
NM_001041.4(SI):c.2088A>C (p.Leu696Phe)
NM_001041.4(SI):c.2107T>A (p.Phe703Ile)
NM_001041.4(SI):c.210T>A (p.Pro70=)
NM_001041.4(SI):c.2121T>C (p.His707=)
NM_001041.4(SI):c.2136A>G (p.Thr712=)
NM_001041.4(SI):c.2141del (p.Ala714fs)
NM_001041.4(SI):c.2159+16A>G rs1220687020
NM_001041.4(SI):c.2159+18T>C
NM_001041.4(SI):c.2160-1G>A
NM_001041.4(SI):c.2160-3del
NM_001041.4(SI):c.2166T>C (p.Tyr722=)
NM_001041.4(SI):c.2171A>G (p.Asp724Gly) rs2108217236
NM_001041.4(SI):c.2171A>T (p.Asp724Val) rs2108217236
NM_001041.4(SI):c.2176A>C (p.Asn726His) rs376939576
NM_001041.4(SI):c.2184G>A (p.Trp728Ter)
NM_001041.4(SI):c.2190G>A (p.Glu730=) rs1712730299
NM_001041.4(SI):c.2191G>C (p.Asp731His)
NM_001041.4(SI):c.2194A>C (p.Thr732Pro) rs2108217177
NM_001041.4(SI):c.2195C>A (p.Thr732Asn) rs772060606
NM_001041.4(SI):c.2203T>C (p.Leu735=)
NM_001041.4(SI):c.2239A>G (p.Lys747Glu)
NM_001041.4(SI):c.2244+14G>A rs114458546
NM_001041.4(SI):c.2244+14G>C
NM_001041.4(SI):c.2244+14G>T
NM_001041.4(SI):c.2244+2_2244+5del
NM_001041.4(SI):c.2244+9T>C
NM_001041.4(SI):c.2245-13A>T
NM_001041.4(SI):c.2245-14T>C
NM_001041.4(SI):c.2268C>T (p.Tyr756=)
NM_001041.4(SI):c.2273C>A (p.Pro758His) rs758287074
NM_001041.4(SI):c.227A>G (p.Asn76Ser)
NM_001041.4(SI):c.22G>T (p.Gly8Ter)
NM_001041.4(SI):c.2300C>T (p.Ser767Phe)
NM_001041.4(SI):c.2301+10C>T
NM_001041.4(SI):c.2301+11T>C
NM_001041.4(SI):c.2301+16A>T rs1712682321
NM_001041.4(SI):c.2302-13T>C
NM_001041.4(SI):c.2302-4T>C
NM_001041.4(SI):c.2305G>A (p.Ala769Thr)
NM_001041.4(SI):c.231C>T (p.Cys77=)
NM_001041.4(SI):c.2328A>C (p.Gln776His)
NM_001041.4(SI):c.2329C>A (p.Arg777=)
NM_001041.4(SI):c.2329C>T (p.Arg777Trp)
NM_001041.4(SI):c.2331G>A (p.Arg777=)
NM_001041.4(SI):c.2342A>G (p.Tyr781Cys)
NM_001041.4(SI):c.234T>C (p.Ile78=)
NM_001041.4(SI):c.2350G>A (p.Ala784Thr) rs2108213900
NM_001041.4(SI):c.2352A>T (p.Ala784=)
NM_001041.4(SI):c.2353G>C (p.Asp785His) rs1560001335
NM_001041.4(SI):c.2361A>C (p.Ile787=) rs116791931
NM_001041.4(SI):c.2362G>A (p.Gly788Arg)
NM_001041.4(SI):c.2363G>T (p.Gly788Val) rs865803822
NM_001041.4(SI):c.2369A>G (p.His790Arg)
NM_001041.4(SI):c.2371C>T (p.Leu791Phe)
NM_001041.4(SI):c.2405C>A (p.Pro802Gln)
NM_001041.4(SI):c.2406A>G (p.Pro802=)
NM_001041.4(SI):c.2407G>A (p.Asp803Asn) rs927979885
NM_001041.4(SI):c.2412A>G (p.Val804=)
NM_001041.4(SI):c.2426+16A>G
NM_001041.4(SI):c.2426+1G>A
NM_001041.4(SI):c.2427-17C>G
NM_001041.4(SI):c.2427-17C>T
NM_001041.4(SI):c.2429G>A (p.Arg810His) rs746487509
NM_001041.4(SI):c.2433G>A (p.Lys811=)
NM_001041.4(SI):c.2433G>C (p.Lys811Asn) rs531574699
NM_001041.4(SI):c.2438C>A (p.Pro813His) rs2108211695
NM_001041.4(SI):c.2445A>G (p.Gly815=)
NM_001041.4(SI):c.2454C>A (p.Val818=)
NM_001041.4(SI):c.2458T>C (p.Leu820=) rs1477826061
NM_001041.4(SI):c.2472C>T (p.Asn824=) rs201124657
NM_001041.4(SI):c.2474C>T (p.Thr825Ile)
NM_001041.4(SI):c.2477C>A (p.Ala826Asp)
NM_001041.4(SI):c.2483G>A (p.Gly828Glu)
NM_001041.4(SI):c.2486A>G (p.Asp829Gly)
NM_001041.4(SI):c.2498A>T (p.Asp833Val)
NM_001041.4(SI):c.24A>T (p.Gly8=) rs2108117983
NM_001041.4(SI):c.2502T>C (p.Asp834=)
NM_001041.4(SI):c.2511T>G (p.Thr837=)
NM_001041.4(SI):c.2515+17T>G
NM_001041.4(SI):c.2515+18A>G
NM_001041.4(SI):c.2515+20G>A rs764134002
NM_001041.4(SI):c.2515+20G>T rs764134002
NM_001041.4(SI):c.2516-15T>C
NM_001041.4(SI):c.2516-17G>A
NM_001041.4(SI):c.2533A>C (p.Asn845His) rs2108207041
NM_001041.4(SI):c.2535C>A (p.Asn845Lys) rs180685608
NM_001041.4(SI):c.255+16C>G
NM_001041.4(SI):c.256-18T>C
NM_001041.4(SI):c.256-19T>C
NM_001041.4(SI):c.256-4T>C
NM_001041.4(SI):c.256-5A>G
NM_001041.4(SI):c.256-9T>C
NM_001041.4(SI):c.2565+17T>C
NM_001041.4(SI):c.2565+7A>G
NM_001041.4(SI):c.2565+8C>T
NM_001041.4(SI):c.2566-10T>C
NM_001041.4(SI):c.2566-15T>C
NM_001041.4(SI):c.2572T>C (p.Leu858=)
NM_001041.4(SI):c.257G>A (p.Gly86Glu)
NM_001041.4(SI):c.2600A>G (p.Tyr867Cys) rs760055757
NM_001041.4(SI):c.2601T>C (p.Tyr867=)
NM_001041.4(SI):c.2631T>C (p.Thr877=)
NM_001041.4(SI):c.2636_2643del (p.Lys879fs)
NM_001041.4(SI):c.2649_2650insGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATCCTTGGGTTG (p.Thr884delinsAlaGlyArgSerGlySerArgLeuTer) rs2108205808
NM_001041.4(SI):c.2651C>G (p.Thr884Arg)
NM_001041.4(SI):c.2654_2657del (p.Asp885fs) rs1221816681
NM_001041.4(SI):c.2656A>G (p.Ser886Gly)
NM_001041.4(SI):c.267A>G (p.Ala89=)
NM_001041.4(SI):c.267del (p.Gln90fs)
NM_001041.4(SI):c.2699A>G (p.Asn900Ser)
NM_001041.4(SI):c.269A>G (p.Gln90Arg)
NM_001041.4(SI):c.2717C>T (p.Thr906Ile)
NM_001041.4(SI):c.2736+13T>C
NM_001041.4(SI):c.2736+5_2736+6insTAAAGCCAAAAGCAAACAAGGATTGCTGCAAATTCCACAATGGCACATTGTGAGAAAGGCCAACTGATTTTCAGGATTGGTGACCTGGACCAGGTTAGCTGCTCCAGAGAGTTCCATACAGGCTGGGCCACCCTTGGGGCAACCAGCC
NM_001041.4(SI):c.2736G>A (p.Gln912=)
NM_001041.4(SI):c.2736G>C (p.Gln912His) rs746565689
NM_001041.4(SI):c.2737-10G>A
NM_001041.4(SI):c.2737-11del rs11452619
NM_001041.4(SI):c.2737-12_2737-11del rs11452619
NM_001041.4(SI):c.2737-17_2737-11del rs11452619
NM_001041.4(SI):c.2737-19_2737-11del
NM_001041.4(SI):c.2737-19_2737-18insA rs778827263
NM_001041.4(SI):c.2737-1G>C rs1294620045
NM_001041.4(SI):c.2737-20_2737-19insA
NM_001041.4(SI):c.2737-23dup rs11452619
NM_001041.4(SI):c.2737-24_2737-18del
NM_001041.4(SI):c.2737-24_2737-19del
NM_001041.4(SI):c.2737-2A>G rs774405472
NM_001041.4(SI):c.2737-9T>C
NM_001041.4(SI):c.2737-9dup rs747324303
NM_001041.4(SI):c.273A>G (p.Arg91=)
NM_001041.4(SI):c.273_274del (p.Gly92fs)
NM_001041.4(SI):c.2748T>A (p.Ile916=)
NM_001041.4(SI):c.2758A>G (p.Lys920Glu) rs757794819
NM_001041.4(SI):c.2764_2767del (p.Asn922fs) rs1559997823
NM_001041.4(SI):c.276CTG[2] (p.Cys94del) rs755508187
NM_001041.4(SI):c.2778C>T (p.Asn926=)
NM_001041.4(SI):c.279C>T (p.Cys93=)
NM_001041.4(SI):c.2800A>G (p.Ile934Val)
NM_001041.4(SI):c.2813A>G (p.Asn938Ser)
NM_001041.4(SI):c.284G>T (p.Trp95Leu)
NM_001041.4(SI):c.2850A>G (p.Ala950=)
NM_001041.4(SI):c.2859A>G (p.Gln953=) rs1444268809
NM_001041.4(SI):c.2859A>T (p.Gln953His) rs1444268809
NM_001041.4(SI):c.2861_2866del (p.Lys954_Cys955del) rs2108202371
NM_001041.4(SI):c.2863T>C (p.Cys955Arg)
NM_001041.4(SI):c.2864G>A (p.Cys955Tyr)
NM_001041.4(SI):c.2865C>A (p.Cys955Ter) rs2108202378
NM_001041.4(SI):c.2867C>G (p.Thr956Arg)
NM_001041.4(SI):c.2873G>A (p.Arg958His)
NM_001041.4(SI):c.2875G>T (p.Gly959Cys) rs2108202354
NM_001041.4(SI):c.2877C>T (p.Gly959=)
NM_001041.4(SI):c.2883A>G (p.Val961=)
NM_001041.4(SI):c.2892+13T>C
NM_001041.4(SI):c.2892+19A>G
NM_001041.4(SI):c.2892+1G>A
NM_001041.4(SI):c.2892+7A>G
NM_001041.4(SI):c.2892+8T>A
NM_001041.4(SI):c.2893-10G>A
NM_001041.4(SI):c.2893-1G>A
NM_001041.4(SI):c.2900C>T (p.Ser967Phe)
NM_001041.4(SI):c.2903T>C (p.Leu968Pro)
NM_001041.4(SI):c.2926T>C (p.Phe976Leu)
NM_001041.4(SI):c.2934A>T (p.Arg978Ser)
NM_001041.4(SI):c.2945_2946del (p.Ser982fs)
NM_001041.4(SI):c.3000A>G (p.Gln1000=)
NM_001041.4(SI):c.3031C>T (p.Pro1011Ser)
NM_001041.4(SI):c.3056G>A (p.Arg1019His)
NM_001041.4(SI):c.3059T>C (p.Val1020Ala)
NM_001041.4(SI):c.3061G>C (p.Glu1021Gln)
NM_001041.4(SI):c.3064G>A (p.Val1022Met) rs201018248
NM_001041.4(SI):c.3078A>G (p.Lys1026=)
NM_001041.4(SI):c.3080dup (p.Asn1027fs)
NM_001041.4(SI):c.3083A>C (p.Asp1028Ala)
NM_001041.4(SI):c.3088T>C (p.Leu1030=)
NM_001041.4(SI):c.3099+1G>C
NM_001041.4(SI):c.3099+1G>T
NM_001041.4(SI):c.3099G>A (p.Lys1033=)
NM_001041.4(SI):c.3100-20T>A rs1711605202
NM_001041.4(SI):c.3100-4A>G
NM_001041.4(SI):c.3121A>T (p.Arg1041Ter)
NM_001041.4(SI):c.3124T>C (p.Tyr1042His)
NM_001041.4(SI):c.3138A>G (p.Val1046=)
NM_001041.4(SI):c.3139C>G (p.Pro1047Ala)
NM_001041.4(SI):c.3141G>A (p.Pro1047=)
NM_001041.4(SI):c.3160C>T (p.Pro1054Ser)
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001041.4(SI):c.3187dup (p.Tyr1063fs)
NM_001041.4(SI):c.3190G>A (p.Asp1064Asn)
NM_001041.4(SI):c.3204G>A (p.Lys1068=)
NM_001041.4(SI):c.3213T>C (p.Pro1071=)
NM_001041.4(SI):c.3232C>T (p.Arg1078Trp)
NM_001041.4(SI):c.3233G>A (p.Arg1078Gln)
NM_001041.4(SI):c.323T>G (p.Phe108Cys)
NM_001041.4(SI):c.3240C>T (p.Ser1080=) rs768521512
NM_001041.4(SI):c.3254+14T>G
NM_001041.4(SI):c.3254+17T>C
NM_001041.4(SI):c.3254+1G>T rs2108183177
NM_001041.4(SI):c.3255-13del
NM_001041.4(SI):c.3255-20T>G
NM_001041.4(SI):c.3255-3C>T
NM_001041.4(SI):c.3255-8G>C
NM_001041.4(SI):c.3255T>C (p.Ile1085=)
NM_001041.4(SI):c.3264T>C (p.Ser1088=)
NM_001041.4(SI):c.3268C>T (p.Leu1090=) rs1576889410
NM_001041.4(SI):c.3270G>A (p.Leu1090=)
NM_001041.4(SI):c.3309G>T (p.Ser1103=) rs765589827
NM_001041.4(SI):c.3313C>T (p.Arg1105Cys)
NM_001041.4(SI):c.3315C>T (p.Arg1105=)
NM_001041.4(SI):c.3324A>G (p.Ser1108=)
NM_001041.4(SI):c.3330T>C (p.Tyr1110=)
NM_001041.4(SI):c.3335A>C (p.Tyr1112Ser)
NM_001041.4(SI):c.3357T>C (p.His1119=)
NM_001041.4(SI):c.335A>T (p.His112Leu)
NM_001041.4(SI):c.3376C>T (p.Leu1126=)
NM_001041.4(SI):c.3390T>C (p.Thr1130=)
NM_001041.4(SI):c.3393G>C (p.Trp1131Cys) rs2108179651
NM_001041.4(SI):c.33C>A (p.Ile11=)
NM_001041.4(SI):c.33C>G (p.Ile11Met) rs2108117951
NM_001041.4(SI):c.3404C>T (p.Thr1135Ile)
NM_001041.4(SI):c.3415C>G (p.Pro1139Ala)
NM_001041.4(SI):c.3415C>T (p.Pro1139Ser)
NM_001041.4(SI):c.3421G>A (p.Gly1141Ser) rs368953032
NM_001041.4(SI):c.3423+10A>G rs200899300
NM_001041.4(SI):c.3423+12C>T
NM_001041.4(SI):c.3423+15A>G
NM_001041.4(SI):c.3423+1G>A
NM_001041.4(SI):c.3423+9C>G
NM_001041.4(SI):c.3424-6T>C
NM_001041.4(SI):c.3424T>A (p.Tyr1142Asn) rs990077130
NM_001041.4(SI):c.3429A>T (p.Lys1143Asn) rs1719128586
NM_001041.4(SI):c.342T>C (p.Tyr114=)
NM_001041.4(SI):c.3438C>A (p.Ser1146=)
NM_001041.4(SI):c.3463G>A (p.Ala1155Thr)
NM_001041.4(SI):c.3463G>T (p.Ala1155Ser) rs151040229
NM_001041.4(SI):c.3465T>G (p.Ala1155=)
NM_001041.4(SI):c.346G>T (p.Val116Phe)
NM_001041.4(SI):c.3472G>C (p.Glu1158Gln)
NM_001041.4(SI):c.3482dup (p.Asn1161fs) rs1316317368
NM_001041.4(SI):c.3485C>G (p.Ala1162Gly)
NM_001041.4(SI):c.3487C>A (p.His1163Asn)
NM_001041.4(SI):c.3502C>T (p.Leu1168Phe)
NM_001041.4(SI):c.3504C>G (p.Leu1168=)
NM_001041.4(SI):c.3505A>G (p.Asn1169Asp) rs1559991401
NM_001041.4(SI):c.3506A>G (p.Asn1169Ser)
NM_001041.4(SI):c.3513T>A (p.Asn1171Lys) rs2108176032
NM_001041.4(SI):c.3516A>G (p.Ala1172=) rs2108176014
NM_001041.4(SI):c.3519G>C (p.Met1173Ile) rs1447015883
NM_001041.4(SI):c.3520+10T>C
NM_001041.4(SI):c.3520+19G>T
NM_001041.4(SI):c.3520+9A>G
NM_001041.4(SI):c.3521-12T>C
NM_001041.4(SI):c.3521-19_3567del rs2108175642
NM_001041.4(SI):c.3521-1G>T
NM_001041.4(SI):c.3521-5T>C rs2108175789
NM_001041.4(SI):c.3524T>C (p.Val1175Ala)
NM_001041.4(SI):c.3527C>T (p.Thr1176Ile)
NM_001041.4(SI):c.3528A>G (p.Thr1176=)
NM_001041.4(SI):c.3532C>T (p.Gln1178Ter) rs898055093
NM_001041.4(SI):c.3540T>C (p.Thr1180=) rs759754319
NM_001041.4(SI):c.3540T>G (p.Thr1180=)
NM_001041.4(SI):c.3547C>T (p.Leu1183=) rs2108175707
NM_001041.4(SI):c.3556C>T (p.Arg1186Cys)
NM_001041.4(SI):c.3560C>T (p.Thr1187Ile)
NM_001041.4(SI):c.3560_3561del (p.Thr1187fs)
NM_001041.4(SI):c.3565G>A (p.Gly1189Arg)
NM_001041.4(SI):c.3570del (p.Ile1191fs)
NM_001041.4(SI):c.3577G>A (p.Asp1193Asn)
NM_001041.4(SI):c.3581T>A (p.Phe1194Tyr)
NM_001041.4(SI):c.3582T>G (p.Phe1194Leu)
NM_001041.4(SI):c.3583del (p.Tyr1195fs)
NM_001041.4(SI):c.3585T>C (p.Tyr1195=)
NM_001041.4(SI):c.3586_3587del (p.Met1196fs) rs780535026
NM_001041.4(SI):c.359CAA[2] (p.Thr122del)
NM_001041.4(SI):c.35_38del (p.Ile11_Ser12insTer)
NM_001041.4(SI):c.3602C>G (p.Thr1201Ser)
NM_001041.4(SI):c.3616A>G (p.Thr1206Ala)
NM_001041.4(SI):c.3633+10C>A
NM_001041.4(SI):c.3633+5G>A
NM_001041.4(SI):c.3634-5del rs750773954
NM_001041.4(SI):c.3634-5dup rs750773954
NM_001041.4(SI):c.3642C>T (p.Gly1214=)
NM_001041.4(SI):c.3667G>T (p.Ala1223Ser) rs1242103830
NM_001041.4(SI):c.366A>G (p.Thr122=)
NM_001041.4(SI):c.3678C>T (p.Phe1226=)
NM_001041.4(SI):c.3711A>G (p.Ser1237=)
NM_001041.4(SI):c.371T>C (p.Ile124Thr) rs889224862
NM_001041.4(SI):c.3721G>A (p.Glu1241Lys)
NM_001041.4(SI):c.3729T>C (p.Tyr1243=) rs779155501
NM_001041.4(SI):c.373+10C>A rs779491718
NM_001041.4(SI):c.373+10C>T
NM_001041.4(SI):c.373+11C>T rs373374968
NM_001041.4(SI):c.373+19T>A
NM_001041.4(SI):c.373+1G>T
NM_001041.4(SI):c.3733G>A (p.Ala1245Thr)
NM_001041.4(SI):c.3735T>C (p.Ala1245=)
NM_001041.4(SI):c.3736A>G (p.Met1246Val) rs753307782
NM_001041.4(SI):c.374-11del rs11313475
NM_001041.4(SI):c.374-11dup rs11313475
NM_001041.4(SI):c.3742G>A (p.Ala1248Thr)
NM_001041.4(SI):c.3743C>T (p.Ala1248Val) rs2108174942
NM_001041.4(SI):c.3747T>A (p.Ala1249=)
NM_001041.4(SI):c.3759+10T>C
NM_001041.4(SI):c.3759+7dup
NM_001041.4(SI):c.3786C>T (p.Tyr1262=)
NM_001041.4(SI):c.3822A>G (p.Ala1274=) rs2108172293
NM_001041.4(SI):c.382G>A (p.Ala128Thr) rs1414623313
NM_001041.4(SI):c.3839A>G (p.Gln1280Arg)
NM_001041.4(SI):c.3843T>G (p.Phe1281Leu)
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg) rs1559990351
NM_001041.4(SI):c.3875A>T (p.Tyr1292Phe)
NM_001041.4(SI):c.3876C>T (p.Tyr1292=)
NM_001041.4(SI):c.3882T>A (p.Ile1294=) rs996183593
NM_001041.4(SI):c.3885C>T (p.Ile1295=)
NM_001041.4(SI):c.3888G>T (p.Leu1296=)
NM_001041.4(SI):c.3889-3del
NM_001041.4(SI):c.3918G>C (p.Lys1306Asn) rs1718967975
NM_001041.4(SI):c.3920C>T (p.Thr1307Ile) rs779254184
NM_001041.4(SI):c.3953A>T (p.Asp1318Val) rs1193644915
NM_001041.4(SI):c.3967T>C (p.Trp1323Arg)
NM_001041.4(SI):c.3977C>A (p.Thr1326Asn)
NM_001041.4(SI):c.3977C>G (p.Thr1326Ser) rs1334719838
NM_001041.4(SI):c.3977C>T (p.Thr1326Ile)
NM_001041.4(SI):c.3992G>T (p.Trp1331Leu)
NM_001041.4(SI):c.3994G>A (p.Ala1332Thr)
NM_001041.4(SI):c.3999+10C>T rs772500737
NM_001041.4(SI):c.3999+11G>A
NM_001041.4(SI):c.3999+15T>A
NM_001041.4(SI):c.3999+15T>C
NM_001041.4(SI):c.3999+15_3999+18del
NM_001041.4(SI):c.3999+15del
NM_001041.4(SI):c.3999+18T>G
NM_001041.4(SI):c.3G>A (p.Met1Ile) rs1427661221
NM_001041.4(SI):c.4000-14C>G
NM_001041.4(SI):c.4000-4G>A
NM_001041.4(SI):c.4000-6T>C
NM_001041.4(SI):c.4000-9C>G
NM_001041.4(SI):c.4000G>A (p.Val1334Ile)
NM_001041.4(SI):c.4001T>G (p.Val1334Gly)
NM_001041.4(SI):c.4025C>A (p.Thr1342Lys)
NM_001041.4(SI):c.4043C>T (p.Thr1348Met)
NM_001041.4(SI):c.4048G>T (p.Asp1350Tyr)
NM_001041.4(SI):c.4056T>A (p.Ala1352=)
NM_001041.4(SI):c.4062+17C>G
NM_001041.4(SI):c.4063-10G>C
NM_001041.4(SI):c.4063-15A>G
NM_001041.4(SI):c.4063-17A>G rs1270897373
NM_001041.4(SI):c.4072G>A (p.Ala1358Thr) rs1718664179
NM_001041.4(SI):c.4077T>C (p.His1359=) rs886058142
NM_001041.4(SI):c.4079T>G (p.Val1360Gly) rs375019489
NM_001041.4(SI):c.4086C>G (p.Phe1362Leu) rs2108159676
NM_001041.4(SI):c.4087C>T (p.Pro1363Ser) rs1576882468
NM_001041.4(SI):c.4094dup (p.Phe1366fs)
NM_001041.4(SI):c.4114G>C (p.Glu1372Gln)
NM_001041.4(SI):c.4119G>T (p.Trp1373Cys) rs751871061
NM_001041.4(SI):c.4127G>C (p.Arg1376Thr) rs2108159606
NM_001041.4(SI):c.4135G>A (p.Val1379Met)
NM_001041.4(SI):c.4149T>C (p.Asn1383=)
NM_001041.4(SI):c.4155G>C (p.Lys1385Asn)
NM_001041.4(SI):c.415T>G (p.Phe139Val)
NM_001041.4(SI):c.4163T>C (p.Phe1388Ser)
NM_001041.4(SI):c.4170T>A (p.Gly1390=)
NM_001041.4(SI):c.4180-13A>G
NM_001041.4(SI):c.4180-19T>C
NM_001041.4(SI):c.4180-1G>A
NM_001041.4(SI):c.4180-8T>G
NM_001041.4(SI):c.4180-9T>A
NM_001041.4(SI):c.4180G>C (p.Asp1394His) rs2108157195
NM_001041.4(SI):c.4192C>T (p.Pro1398Ser)
NM_001041.4(SI):c.4195T>A (p.Ser1399Thr)
NM_001041.4(SI):c.4199G>A (p.Ser1400Asn)
NM_001041.4(SI):c.4204G>A (p.Val1402Ile) rs2108157131
NM_001041.4(SI):c.4208_4223del (p.Asn1403fs)
NM_001041.4(SI):c.4209T>C (p.Asn1403=) rs113826825
NM_001041.4(SI):c.4210G>A (p.Gly1404Arg) rs2108157103
NM_001041.4(SI):c.4213A>G (p.Thr1405Ala)
NM_001041.4(SI):c.4240G>A (p.Glu1414Lys) rs145734588
NM_001041.4(SI):c.4240G>C (p.Glu1414Gln) rs145734588
NM_001041.4(SI):c.4267+1G>A
NM_001041.4(SI):c.4267+4C>A rs2108156956
NM_001041.4(SI):c.4268-12G>A
NM_001041.4(SI):c.4268-15A>G
NM_001041.4(SI):c.4268-17T>A
NM_001041.4(SI):c.4268-1G>A
NM_001041.4(SI):c.4268-7T>C
NM_001041.4(SI):c.4283C>G (p.Thr1428Ser) rs1718541372
NM_001041.4(SI):c.4287T>C (p.Asp1429=)
NM_001041.4(SI):c.4287T>G (p.Asp1429Glu)
NM_001041.4(SI):c.4327_4356del (p.Ile1443_His1452del)
NM_001041.4(SI):c.4359C>T (p.Tyr1453=)
NM_001041.4(SI):c.4362T>C (p.Asp1454=)
NM_001041.4(SI):c.4395A>G (p.Lys1465=)
NM_001041.4(SI):c.4404T>C (p.His1468=) rs201768364
NM_001041.4(SI):c.4406+15del
NM_001041.4(SI):c.4406+17A>G
NM_001041.4(SI):c.4406+39T>G
NM_001041.4(SI):c.4406+4A>G
NM_001041.4(SI):c.4406+8A>G
NM_001041.4(SI):c.4407-17C>A
NM_001041.4(SI):c.4407-20A>C rs372440079
NM_001041.4(SI):c.4407-5A>G
NM_001041.4(SI):c.4407-8T>G
NM_001041.4(SI):c.4438A>G (p.Ile1480Val)
NM_001041.4(SI):c.4441G>A (p.Val1481Ile) rs753419870
NM_001041.4(SI):c.4450C>T (p.Arg1484Cys)
NM_001041.4(SI):c.446C>T (p.Thr149Ile)
NM_001041.4(SI):c.4473A>G (p.Gly1491=)
NM_001041.4(SI):c.4474C>T (p.Arg1492Ter)
NM_001041.4(SI):c.4478G>T (p.Trp1493Leu) rs1718124808
NM_001041.4(SI):c.4503C>T (p.Asn1501=)
NM_001041.4(SI):c.4505A>G (p.Tyr1502Cys)
NM_001041.4(SI):c.4506T>G (p.Tyr1502Ter)
NM_001041.4(SI):c.4508C>T (p.Ala1503Val) rs868014810
NM_001041.4(SI):c.4528A>T (p.Lys1510Ter)
NM_001041.4(SI):c.4540+10A>G
NM_001041.4(SI):c.4540+10A>T
NM_001041.4(SI):c.4540+17A>G
NM_001041.4(SI):c.4541-20A>G
NM_001041.4(SI):c.4541-20del
NM_001041.4(SI):c.4541-2A>T
NM_001041.4(SI):c.4541-8T>G rs2108135861
NM_001041.4(SI):c.4542T>C (p.Gly1514=)
NM_001041.4(SI):c.4546A>G (p.Met1516Val)
NM_001041.4(SI):c.4554T>G (p.Phe1518Leu)
NM_001041.4(SI):c.4556G>T (p.Ser1519Ile) rs1217919736
NM_001041.4(SI):c.4575+17C>T
NM_001041.4(SI):c.4575+2T>C
NM_001041.4(SI):c.4575+8G>C
NM_001041.4(SI):c.4575+9T>C
NM_001041.4(SI):c.4575T>G (p.Tyr1525Ter) rs370402596
NM_001041.4(SI):c.4576-15A>G
NM_001041.4(SI):c.4576-9A>G
NM_001041.4(SI):c.4593T>C (p.Cys1531=)
NM_001041.4(SI):c.4605C>T (p.Asn1535=)
NM_001041.4(SI):c.4617T>C (p.Tyr1539=)
NM_001041.4(SI):c.4626T>C (p.Cys1542=)
NM_001041.4(SI):c.4630C>A (p.Arg1544Ser) rs767701775
NM_001041.4(SI):c.4642C>G (p.Leu1548Val)
NM_001041.4(SI):c.465del (p.Asn156fs)
NM_001041.4(SI):c.4663T>C (p.Ser1555Pro) rs1718020231
NM_001041.4(SI):c.467A>G (p.Asn156Ser)
NM_001041.4(SI):c.4685del (p.Asn1562fs) rs1718019180
NM_001041.4(SI):c.4691G>C (p.Arg1564Thr)
NM_001041.4(SI):c.4692+10T>G
NM_001041.4(SI):c.4692+15C>T
NM_001041.4(SI):c.4692+17T>G
NM_001041.4(SI):c.4692+19T>A
NM_001041.4(SI):c.4692+1G>C
NM_001041.4(SI):c.4692+20A>C
NM_001041.4(SI):c.4692+4T>C
NM_001041.4(SI):c.4692+6T>C
NM_001041.4(SI):c.4693-11C>T
NM_001041.4(SI):c.4693-16T>C
NM_001041.4(SI):c.4725T>C (p.Phe1575=)
NM_001041.4(SI):c.4728T>A (p.Ala1576=)
NM_001041.4(SI):c.4747C>T (p.Leu1583=)
NM_001041.4(SI):c.474C>G (p.Phe158Leu)
NM_001041.4(SI):c.4763C>A (p.Thr1588Asn)
NM_001041.4(SI):c.4770G>A (p.Leu1590=)
NM_001041.4(SI):c.4773C>T (p.Pro1591=)
NM_001041.4(SI):c.4784C>T (p.Thr1595Ile) rs780262949
NM_001041.4(SI):c.4793A>T (p.His1598Leu) rs562705407
NM_001041.4(SI):c.4794T>G (p.His1598Gln) rs144187804
NM_001041.4(SI):c.4814G>T (p.Gly1605Val)
NM_001041.4(SI):c.4817C>G (p.Thr1606Ser) rs376062850
NM_001041.4(SI):c.4817C>T (p.Thr1606Ile)
NM_001041.4(SI):c.4819G>A (p.Val1607Ile) rs2108130932
NM_001041.4(SI):c.4821T>A (p.Val1607=)
NM_001041.4(SI):c.483+2T>C rs1560017341
NM_001041.4(SI):c.4830C>T (p.Pro1610=)
NM_001041.4(SI):c.4836G>T (p.Leu1612Phe)
NM_001041.4(SI):c.484-10A>C
NM_001041.4(SI):c.484-15C>T rs1434374173
NM_001041.4(SI):c.484-16G>A
NM_001041.4(SI):c.484-19C>T
NM_001041.4(SI):c.484-20C>G
NM_001041.4(SI):c.484-20C>T
NM_001041.4(SI):c.4840_4841+2del rs1240035419
NM_001041.4(SI):c.4841+16G>T
NM_001041.4(SI):c.4841+1G>C
NM_001041.4(SI):c.4841+5G>A
NM_001041.4(SI):c.4841+5G>C
NM_001041.4(SI):c.4842-13T>C
NM_001041.4(SI):c.4842-3G>A rs112107483
NM_001041.4(SI):c.4842-3G>T rs112107483
NM_001041.4(SI):c.4858C>A (p.Pro1620Thr)
NM_001041.4(SI):c.4863C>T (p.Thr1621=)
NM_001041.4(SI):c.4892del (p.Gly1631fs)
NM_001041.4(SI):c.4893T>C (p.Gly1631=) rs918269063
NM_001041.4(SI):c.4926+3A>G
NM_001041.4(SI):c.4927-19del
NM_001041.4(SI):c.4927-8C>T
NM_001041.4(SI):c.4958A>G (p.Asn1653Ser)
NM_001041.4(SI):c.4961C>A (p.Ala1654Asp) rs150702232
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly) rs150702232
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp) rs760505676
NM_001041.4(SI):c.4964G>A (p.Arg1655Gln)
NM_001041.4(SI):c.4964G>T (p.Arg1655Leu)
NM_001041.4(SI):c.4977C>G (p.Tyr1659Ter) rs2108127087
NM_001041.4(SI):c.4980_4981del (p.Thr1661fs)
NM_001041.4(SI):c.4982C>G (p.Thr1661Arg) rs202004001
NM_001041.4(SI):c.4983+13G>C rs2108127061
NM_001041.4(SI):c.4983+15A>G
NM_001041.4(SI):c.4983+8T>C
NM_001041.4(SI):c.4984-14C>A
NM_001041.4(SI):c.4984-17_4984-14del
NM_001041.4(SI):c.4984-1G>A
NM_001041.4(SI):c.4998C>T (p.Gly1666=)
NM_001041.4(SI):c.4999G>A (p.Val1667Ile) rs142018224
NM_001041.4(SI):c.4999G>C (p.Val1667Leu) rs142018224
NM_001041.4(SI):c.5005G>T (p.Gly1669Ter)
NM_001041.4(SI):c.5015A>C (p.Gln1672Pro) rs2108125883
NM_001041.4(SI):c.501T>C (p.Asn167=)
NM_001041.4(SI):c.5034T>C (p.Tyr1678=)
NM_001041.4(SI):c.5044A>C (p.Asn1682His)
NM_001041.4(SI):c.5047C>T (p.Leu1683=)
NM_001041.4(SI):c.5052T>A (p.His1684Gln) rs748153693
NM_001041.4(SI):c.5057G>A (p.Arg1686His)
NM_001041.4(SI):c.5086C>T (p.Pro1696Ser)
NM_001041.4(SI):c.508T>C (p.Tyr170His) rs1714304021
NM_001041.4(SI):c.5092C>A (p.Gln1698Lys)
NM_001041.4(SI):c.5108+12G>A rs1211952744
NM_001041.4(SI):c.5108+15T>A
NM_001041.4(SI):c.5109-11C>A rs1576867393
NM_001041.4(SI):c.5109-17A>G rs1717482470
NM_001041.4(SI):c.5109-19A>G
NM_001041.4(SI):c.5109-5del
NM_001041.4(SI):c.5109-7C>A
NM_001041.4(SI):c.5113C>T (p.Gln1705Ter)
NM_001041.4(SI):c.5118del (p.Lys1706fs)
NM_001041.4(SI):c.5127G>A (p.Lys1709=)
NM_001041.4(SI):c.5134G>A (p.Val1712Ile)
NM_001041.4(SI):c.5144A>G (p.Asp1715Gly) rs113023426
NM_001041.4(SI):c.5163G>A (p.Gln1721=)
NM_001041.4(SI):c.517C>T (p.Pro173Ser)
NM_001041.4(SI):c.5190G>A (p.Glu1730=)
NM_001041.4(SI):c.5193T>C (p.Ser1731=)
NM_001041.4(SI):c.5197+10C>T
NM_001041.4(SI):c.5197+11G>A
NM_001041.4(SI):c.5197+12A>C
NM_001041.4(SI):c.5197+12dup
NM_001041.4(SI):c.5197+13T>C
NM_001041.4(SI):c.5197+17G>C
NM_001041.4(SI):c.5198-13del
NM_001041.4(SI):c.5198-14T>C rs1221283703
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001041.4(SI):c.5199C>T (p.Asp1733=)
NM_001041.4(SI):c.51T>C (p.Phe17=)
NM_001041.4(SI):c.5212G>A (p.Asp1738Asn)
NM_001041.4(SI):c.5212G>T (p.Asp1738Tyr)
NM_001041.4(SI):c.523C>G (p.Gln175Glu) rs2108097375
NM_001041.4(SI):c.5247+1G>A
NM_001041.4(SI):c.5247+5G>A
NM_001041.4(SI):c.5247G>A (p.Gln1749=)
NM_001041.4(SI):c.5248-14_5248-9del rs1445825993
NM_001041.4(SI):c.5248-20T>C
NM_001041.4(SI):c.5252C>T (p.Thr1751Ile)
NM_001041.4(SI):c.5267T>C (p.Ile1756Thr)
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp) rs145556619
NM_001041.4(SI):c.5279G>T (p.Gly1760Val) rs145556619
NM_001041.4(SI):c.528T>A (p.Tyr176Ter) rs1560016661
NM_001041.4(SI):c.5307T>C (p.Leu1769=)
NM_001041.4(SI):c.5319T>C (p.His1773=) rs774545616
NM_001041.4(SI):c.531A>G (p.Val177=)
NM_001041.4(SI):c.5323T>C (p.Trp1775Arg)
NM_001041.4(SI):c.5324G>T (p.Trp1775Leu)
NM_001041.4(SI):c.5332G>A (p.Gly1778Arg)
NM_001041.4(SI):c.535G>T (p.Glu179Ter)
NM_001041.4(SI):c.5364G>A (p.Thr1788=)
NM_001041.4(SI):c.5370C>A (p.Asn1790Lys) rs760411938
NM_001041.4(SI):c.5370C>T (p.Asn1790=)
NM_001041.4(SI):c.5375A>G (p.Asn1792Ser) rs2108108260
NM_001041.4(SI):c.5379A>G (p.Lys1793=)
NM_001041.4(SI):c.5385G>A (p.Ser1795=) rs759867192
NM_001041.4(SI):c.5385G>T (p.Ser1795=)
NM_001041.4(SI):c.5415+10G>A
NM_001041.4(SI):c.5415+8A>G
NM_001041.4(SI):c.5416-14T>C
NM_001041.4(SI):c.5416-18A>T
NM_001041.4(SI):c.5416-8T>C
NM_001041.4(SI):c.5422C>T (p.Arg1808Cys)
NM_001041.4(SI):c.5428G>A (p.Asp1810Asn) rs2108103215
NM_001041.4(SI):c.5430T>C (p.Asp1810=)
NM_001041.4(SI):c.5445T>C (p.Asn1815=)
NM_001041.4(SI):c.5446G>A (p.Val1816Ile)
NM_001041.4(SI):c.5461C>T (p.Pro1821Ser) rs2108103108
NM_001041.4(SI):c.5464A>G (p.Ile1822Val)
NM_001041.4(SI):c.5466A>C (p.Ile1822=)
NM_001041.4(SI):c.5481A>G (p.Ser1827=)
NM_001041.4(SI):c.551C>A (p.Thr184Lys) rs193172680
NM_001041.4(SI):c.564G>A (p.Thr188=)
NM_001041.4(SI):c.567G>A (p.Leu189=) rs76463353
NM_001041.4(SI):c.575T>C (p.Val192Ala) rs549019064
NM_001041.4(SI):c.579G>T (p.Lys193Asn)
NM_001041.4(SI):c.57A>T (p.Ile19=) rs760966659
NM_001041.4(SI):c.580G>A (p.Val194Ile)
NM_001041.4(SI):c.586C>T (p.Gln196Ter)
NM_001041.4(SI):c.597T>C (p.Phe199=)
NM_001041.4(SI):c.607G>T (p.Val203Phe)
NM_001041.4(SI):c.610A>G (p.Ile204Val)
NM_001041.4(SI):c.620G>A (p.Ser207Asn)
NM_001041.4(SI):c.635+10T>C
NM_001041.4(SI):c.635+10T>G
NM_001041.4(SI):c.635+18C>A
NM_001041.4(SI):c.635+2T>C rs1185991890
NM_001041.4(SI):c.636-10T>C rs771193800
NM_001041.4(SI):c.636-16T>C
NM_001041.4(SI):c.636-18_636-15del
NM_001041.4(SI):c.636-19T>C
NM_001041.4(SI):c.636-1G>A
NM_001041.4(SI):c.636-22_636-19del rs558953371
NM_001041.4(SI):c.636-8T>C
NM_001041.4(SI):c.636G>A (p.Leu212=) rs145891116
NM_001041.4(SI):c.648C>A (p.Ser216Arg)
NM_001041.4(SI):c.65T>C (p.Ile22Thr)
NM_001041.4(SI):c.664T>C (p.Tyr222His)
NM_001041.4(SI):c.667_670dup (p.Asp224delinsValTer)
NM_001041.4(SI):c.686T>C (p.Ile229Thr)
NM_001041.4(SI):c.687_689del (p.Ser230del)
NM_001041.4(SI):c.693C>T (p.Thr231=) rs1414183067
NM_001041.4(SI):c.703A>G (p.Ser235Gly)
NM_001041.4(SI):c.705T>C (p.Ser235=)
NM_001041.4(SI):c.713T>C (p.Ile238Thr) rs2108258544
NM_001041.4(SI):c.714T>A (p.Ile238=)
NM_001041.4(SI):c.720T>C (p.Gly240=)
NM_001041.4(SI):c.740A>G (p.Lys247Arg)
NM_001041.4(SI):c.756T>C (p.Asp252=)
NM_001041.4(SI):c.763T>C (p.Trp255Arg)
NM_001041.4(SI):c.766A>G (p.Lys256Glu) rs1714182006
NM_001041.4(SI):c.770C>T (p.Thr257Ile)
NM_001041.4(SI):c.77C>A (p.Ala26Asp) rs1043151277
NM_001041.4(SI):c.787C>T (p.Arg263Ter)
NM_001041.4(SI):c.802G>T (p.Gly268Cys) rs2108258357
NM_001041.4(SI):c.807+10T>A
NM_001041.4(SI):c.807+18T>C
NM_001041.4(SI):c.807+20G>A
NM_001041.4(SI):c.807+20G>T
NM_001041.4(SI):c.807+6A>G
NM_001041.4(SI):c.807+7A>C
NM_001041.4(SI):c.808-12C>T
NM_001041.4(SI):c.808-16A>G
NM_001041.4(SI):c.808-17_808-7del
NM_001041.4(SI):c.820T>C (p.Leu274=)
NM_001041.4(SI):c.826G>A (p.Gly276Ser)
NM_001041.4(SI):c.833A>C (p.Gln278Pro)
NM_001041.4(SI):c.834A>G (p.Gln278=)
NM_001041.4(SI):c.834_837del (p.Gln278fs)
NM_001041.4(SI):c.840C>G (p.Phe280Leu)
NM_001041.4(SI):c.848G>C (p.Cys283Ser)
NM_001041.4(SI):c.853G>T (p.Glu285Ter) rs758259365
NM_001041.4(SI):c.863C>T (p.Ser288Phe)
NM_001041.4(SI):c.865G>A (p.Gly289Arg)
NM_001041.4(SI):c.877G>A (p.Gly293Ser)
NM_001041.4(SI):c.880del (p.Val294fs)
NM_001041.4(SI):c.887del (p.Phe295_Leu296insTer)
NM_001041.4(SI):c.887dup (p.Leu296fs) rs769103567
NM_001041.4(SI):c.894T>C (p.Asn298=)
NM_001041.4(SI):c.897C>T (p.Ser299=)
NM_001041.4(SI):c.898A>G (p.Asn300Asp) rs907062698
NM_001041.4(SI):c.903A>G (p.Ala301=)
NM_001041.4(SI):c.907+12T>C rs2108255549
NM_001041.4(SI):c.914T>G (p.Phe305Cys)
NM_001041.4(SI):c.936A>G (p.Val312=) rs775178187
NM_001041.4(SI):c.945A>T (p.Arg315Ser)
NM_001041.4(SI):c.951C>T (p.Thr317=)
NM_001041.4(SI):c.955G>T (p.Gly319Cys) rs2108254029
NM_001041.4(SI):c.973A>G (p.Ile325Val) rs758485816
NM_001041.4(SI):c.986A>T (p.Asp329Val) rs762221257

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