ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Invitae

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1652
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HGVS dbSNP
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000004.11:g.(?_154125663)_(154197302_?)del
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.13:g.(?_75933099)_(75933510_?)del
NC_000007.13:g.(?_75933119)_(75933490_?)del
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000009.11:g.(?_130263279)_(130263432_?)del
NC_000009.11:g.(?_130265053)_(130265780_?)del
NC_000011.9:g.(?_68675593)_(68676119_?)del
NC_000014.8:g.(?_102391478)_(102431284_?)del
NC_000019.9:g.(?_10828899)_(10870507_?)dup
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=) rs746959606
NM_001005360.2(DNM2):c.1101C>T (p.His367=) rs768651920
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met) rs879253980
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val) rs186762327
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg) rs1555710681
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)
NM_001005360.2(DNM2):c.1335+1G>A
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005360.2(DNM2):c.1422+9C>T rs199952853
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=) rs767407905
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005360.2(DNM2):c.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.162-6del rs766449694
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1664_1671+1del rs1568314339
NM_001005360.2(DNM2):c.1671+3G>C
NM_001005360.2(DNM2):c.1716C>A (p.Ile572=) rs776999450
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met) rs372876881
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.177C>A (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1781+6G>T rs1568318838
NM_001005360.2(DNM2):c.1782-4G>A rs767424969
NM_001005360.2(DNM2):c.1782-4G>C rs767424969
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.1782-7C>A rs200843089
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys) rs772920450
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005360.2(DNM2):c.2059-5C>T rs377150057
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2100_2102CTC[1] (p.Ser702del)
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
NM_001005360.2(DNM2):c.210T>C (p.Ile70=) rs878854149
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
NM_001005360.2(DNM2):c.216G>A (p.Gln72=) rs368075301
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala) rs777609224
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn) rs879254300
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005360.2(DNM2):c.2291+4C>T
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) rs200968756
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) rs114682382
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=) rs200100669
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2544_2546delCAG rs1568325729
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=) rs761141093
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn) rs149825590
NM_001005360.2(DNM2):c.2573_2575CCA[1] (p.Thr859del)
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) rs375151459
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)
NM_001005360.2(DNM2):c.33G>A (p.Pro11=) rs779502758
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
NM_001005360.2(DNM2):c.384C>T (p.His128=)
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
NM_001005360.2(DNM2):c.480C>T (p.Ile160=) rs140036663
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
NM_001005360.2(DNM2):c.555C>T (p.Asp185=) rs140788791
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn) rs145478270
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)
NM_001005360.2(DNM2):c.648C>T (p.Ala216=) rs1060504950
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
NM_001005360.2(DNM2):c.689-3C>T rs373330742
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)
NM_001005360.2(DNM2):c.699C>T (p.Gly233=) rs751844947
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu) rs377159042
NM_001005360.2(DNM2):c.750A>G (p.Ala250=) rs202214529
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)
NM_001005360.2(DNM2):c.819C>T (p.Gly273=) rs1464745378
NM_001005360.2(DNM2):c.81C>T (p.Cys27=) rs534605878
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met) rs746387165
NM_001005360.2(DNM2):c.822G>A (p.Thr274=) rs201763720
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) rs202155679
NM_001005360.2(DNM2):c.83A>T (p.His28Leu) rs774962668
NM_001005360.2(DNM2):c.850-7C>G rs778548382
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys) rs760254039
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser) rs890297188
NM_001005360.2(DNM2):c.90C>T (p.Asp30=) rs759919549
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys) rs370636702
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005360.2(DNM2):c.992+4T>C rs1225723240
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val)
NM_001303256.3(MORC2):c.1028G>A (p.Arg343His) rs753651729
NM_001303256.3(MORC2):c.1078C>T (p.Leu360Phe) rs1268129848
NM_001303256.3(MORC2):c.1083_1086del (p.Lys361fs)
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser)
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr)
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=) rs754338828
NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3]) rs1555938722
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=) rs768240412
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=)
NM_001303256.3(MORC2):c.1370-3C>T
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp)
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val)
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys)
NM_001303256.3(MORC2):c.1468G>A (p.Ala490Thr) rs1569192031
NM_001303256.3(MORC2):c.1497C>T (p.Cys499=) rs1345120667
NM_001303256.3(MORC2):c.1499-9T>C rs201213165
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln)
NM_001303256.3(MORC2):c.1605-3C>T
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser)
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val)
NM_001303256.3(MORC2):c.1737+4C>T rs5997814
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr)
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys)
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys)
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu)
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu)
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu)
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=) rs1555937681
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly)
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly)
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln)
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln)
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val)
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys)
NM_001303256.3(MORC2):c.2120G>A (p.Arg707Gln) rs768807060
NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) rs780648306
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr)
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala)
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn)
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln)
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp)
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T
NM_001303256.3(MORC2):c.2381-7T>C rs754758325
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=) rs140142437
NM_001303256.3(MORC2):c.258G>C (p.Lys86Asn) rs150980372
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu) rs864309504
NM_001303256.3(MORC2):c.2630C>T (p.Ala877Val)
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr)
NM_001303256.3(MORC2):c.2649C>T (p.Val883=) rs189421529
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=) rs565441094
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=) rs147997704
NM_001303256.3(MORC2):c.2734G>T (p.Val912Phe) rs1569188333
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185
NM_001303256.3(MORC2):c.2747+6T>C
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=) rs767914603
NM_001303256.3(MORC2):c.276T>C (p.Pro92=) rs142640132
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly)
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350
NM_001303256.3(MORC2):c.2944A>G (p.Thr982Ala) rs771410096
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=) rs372404658
NM_001303256.3(MORC2):c.2969C>T (p.Thr990Met)
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=) rs777775099
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=) rs765411579
NM_001303256.3(MORC2):c.3030+6C>G
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=) rs138812699
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=) rs149110760
NM_001303256.3(MORC2):c.355A>G (p.Thr119Ala) rs748216749
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001303256.3(MORC2):c.395G>T (p.Arg132Leu)
NM_001303256.3(MORC2):c.399G>A (p.Thr133=) rs141171446
NM_001303256.3(MORC2):c.427-4A>G rs749183153
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp) rs186458188
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu)
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys)
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser) rs76273991
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val)
NM_001303256.3(MORC2):c.672G>T (p.Gln224His)
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.712C>T (p.Arg238Cys) rs371713427
NM_001303256.3(MORC2):c.713G>A (p.Arg238His) rs367766290
NM_001303256.3(MORC2):c.732C>T (p.Ala244=) rs371351399
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001303256.3(MORC2):c.774T>C (p.His258=) rs747931761
NM_001303256.3(MORC2):c.776G>A (p.Gly259Glu) rs368260550
NM_001303256.3(MORC2):c.798G>T (p.Arg266Ser)
NM_001303256.3(MORC2):c.800T>G (p.Leu267Arg) rs1555939986
NM_001303256.3(MORC2):c.815A>T (p.Tyr272Phe) rs987083509
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.870G>A (p.Gln290=) rs766060409
NM_001303256.3(MORC2):c.892G>C (p.Val298Leu) rs772766261
NM_001303256.3(MORC2):c.927A>G (p.Ala309=) rs1291021388
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp)
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204
NM_001303256.3(MORC2):c.969C>A (p.Asp323Glu) rs199973357
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376
NM_001303256.3(MORC2):c.988-10A>G rs370880177
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly)
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=) rs1555411373
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.10198-4C>A rs1555411389
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=) rs371853975
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp) rs1315999225
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn)
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys)
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=) rs758827732
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met)
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=) rs201109134
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=) rs1060504512
NM_001376.5(DYNC1H1):c.10627-6T>C rs1555411461
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=) rs143068719
NM_001376.5(DYNC1H1):c.10657C>G (p.Leu3553Val)
NM_001376.5(DYNC1H1):c.10661C>T (p.Ser3554Phe) rs1567019533
NM_001376.5(DYNC1H1):c.10682G>A (p.Arg3561His) rs1064796932
NM_001376.5(DYNC1H1):c.10703C>T (p.Pro3568Leu)
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn) rs768668529
NM_001376.5(DYNC1H1):c.10750A>G (p.Asn3584Asp) rs1332342693
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=) rs370397467
NM_001376.5(DYNC1H1):c.11055+6G>A
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=) rs149806996
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG rs762712158
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=) rs1555411851
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.11691-10C>T rs771362494
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=) rs780971776
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=) rs151307859
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg)
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=) rs750305144
NM_001376.5(DYNC1H1):c.11941+2T>A
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg)
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12103-9T>C rs939623360
NM_001376.5(DYNC1H1):c.12109_12110delinsTT (p.Pro4037Phe)
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=) rs1060504511
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=) rs1041126638
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=) rs549895432
NM_001376.5(DYNC1H1):c.12276-5T>C rs1555412076
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=) rs774128776
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=) rs146075696
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12514-3C>T rs761866611
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=) rs1489755183
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=) rs753248251
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln) rs140013253
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=) rs1288014241
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg)
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12749C>G (p.Ser4250Cys)
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=) rs780271275
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=) rs17512877
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=) rs751398567
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.13006+4G>A
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu) rs747829220
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=) rs773232010
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=) rs181697853
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=) rs369577172
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=) rs372518648
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr) rs768797999
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292
NM_001376.5(DYNC1H1):c.13165C>T (p.His4389Tyr) rs1567025279
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=) rs766805479
NM_001376.5(DYNC1H1):c.13180A>G (p.Thr4394Ala) rs1555412552
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe) rs144570049
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile) rs1555412618
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn)
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) rs142883042
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13373-3C>G rs1567025991
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=) rs17541692
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13441G>A (p.Asp4481Asn) rs1243385324
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13516-10C>A
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=)
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13710_13712CAA[3] (p.Asn4573del) rs1013209915
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=) rs765791872
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
NM_001376.5(DYNC1H1):c.13798A>C (p.Lys4600Gln) rs1060502205
NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val) rs1566991081
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=) rs781130520
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn) rs750353606
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys) rs200149883
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=) rs141961494
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn) rs777919963
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=) rs1060504508
NM_001376.5(DYNC1H1):c.1442T>A (p.Val481Asp) rs776102509
NM_001376.5(DYNC1H1):c.1454G>A (p.Arg485Lys) rs879254275
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=) rs761306770
NM_001376.5(DYNC1H1):c.1507C>G (p.Gln503Glu) rs1060502209
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=) rs1057522046
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys)
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803
NM_001376.5(DYNC1H1):c.1911C>T (p.His637=) rs376398498
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
NM_001376.5(DYNC1H1):c.1916G>A (p.Arg639His) rs1244748017
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=) rs1555408339
NM_001376.5(DYNC1H1):c.1942A>G (p.Ile648Val)
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln)
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met) rs563050462
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=) rs1555408347
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=) rs1555408353
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=) rs763561186
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=) rs763236829
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=) rs757752556
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter)
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro)
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.2539-9T>C rs750362256
NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=) rs762508534
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2719-9_2719-7del rs566271356
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs)
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp) rs777387819
NM_001376.5(DYNC1H1):c.3079C>T (p.Pro1027Ser) rs1060502206
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu) rs775528195
NM_001376.5(DYNC1H1):c.3096C>G (p.Ala1032=) rs1060504507
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu)
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=) rs767157510
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.345-3T>G rs1060502203
NM_001376.5(DYNC1H1):c.345-4T>G rs1060504510
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) rs776275624
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.3571C>T (p.Arg1191Cys) rs774198261
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3642C>T (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met) rs749548033
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg)
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu) rs1131691955
NM_001376.5(DYNC1H1):c.4075-5G>A rs750127672
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=) rs753684857
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821
NM_001376.5(DYNC1H1):c.4173A>C (p.Lys1391Asn) rs1555409283
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4193T>C (p.Met1398Thr) rs1567006255
NM_001376.5(DYNC1H1):c.422G>A (p.Ser141Asn)
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=) rs150374820
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile) rs367614843
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=) rs780278262
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=) rs756763142
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile) rs761695197
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu) rs1327664377
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416
NM_001376.5(DYNC1H1):c.4543-7C>T rs1555409395
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val) rs140905741
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4709+6G>T rs1555409403
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=) rs143297786
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=) rs374033335
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp) rs1060502204
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys)
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=) rs1555407893
NM_001376.5(DYNC1H1):c.503C>G (p.Ser168Cys) rs1321265961
NM_001376.5(DYNC1H1):c.5050-3C>T
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.5155G>A (p.Glu1719Lys) rs1555409562
NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met) rs1555409563
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val)
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.5(DYNC1H1):c.5238+7T>C rs746205822
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe)
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met) rs780345145
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr) rs144147463
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=) rs761933814
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr) rs200722698
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=) rs143258359
NM_001376.5(DYNC1H1):c.5405C>A (p.Pro1802Gln)
NM_001376.5(DYNC1H1):c.5433_5433+27dup
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=) rs762857766
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His)
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=) rs552313071
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=) rs1555409674
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=) rs758999145
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.598A>G (p.Ile200Val) rs1566996430
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=) rs374997831
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg)
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile) rs765613848
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
NM_001376.5(DYNC1H1):c.6511C>T (p.His2171Tyr) rs1060502208
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=) rs374440380
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.6763G>A (p.Asp2255Asn) rs376274132
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.6857+10_6857+12del rs773209855
NM_001376.5(DYNC1H1):c.6862A>G (p.Ile2288Val) rs1567010983
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=) rs768991876
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=) rs138326082
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=) rs1555410008
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser) rs142335110
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu)
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr) rs550161377
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His) rs1028991666
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp)
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro)
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7242+5G>A
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=) rs141665695
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=) rs762065704
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile)
NM_001376.5(DYNC1H1):c.7372C>T (p.Leu2458Phe) rs1161281176
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7462C>T (p.Arg2488Cys)
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln)
NM_001376.5(DYNC1H1):c.751C>G (p.Arg251Gly) rs879253979
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp) rs376901405
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=) rs747067301
NM_001376.5(DYNC1H1):c.7614+6C>T rs1567012532
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His)
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln)
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=) rs200413541
NM_001376.5(DYNC1H1):c.8178-8G>C rs758234041
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met) rs376679623
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=) rs138710201
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+5G>A
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=) rs534435923
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His)
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val)
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=) rs149526821
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn) rs780522040
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met) rs575806819
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7T>C rs201446705
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=) rs758989267
NM_001376.5(DYNC1H1):c.8772-7G>A rs758936427
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=) rs755723273
NM_001376.5(DYNC1H1):c.8873T>C (p.Val2958Ala) rs1555410902
NM_001376.5(DYNC1H1):c.8886+4C>T rs1349379812
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=) rs1555410937
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9139C>T (p.His3047Tyr) rs1555410940
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=) rs1555410949
NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met) rs377668381
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=) rs1555410963
NM_001376.5(DYNC1H1):c.9263+5G>A rs200144865
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=) rs1060504513
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9401C>T (p.Pro3134Leu) rs905098104
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.940G>A (p.Val314Ile)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg)
NM_001376.5(DYNC1H1):c.9554A>C (p.Asn3185Thr) rs1311056505
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=) rs202053613
NM_001376.5(DYNC1H1):c.9565G>A (p.Glu3189Lys)
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=) rs1555411131
NM_001376.5(DYNC1H1):c.9577G>A (p.Glu3193Lys) rs1567017804
NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met) rs1567017825
NM_001376.5(DYNC1H1):c.9642+4C>A
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala)
NM_001540.5(HSPB1):c.202G>C (p.Val68Leu) rs757158514
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.20C>G (p.Pro7Arg) rs1405359814
NM_001540.5(HSPB1):c.229C>T (p.Leu77Phe) rs1231796327
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.250G>C (p.Gly84Arg) rs770272088
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.266G>A (p.Arg89Gln) rs1060503022
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn) rs777201941
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>T (p.Asn102Ile) rs765142574
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser)
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.369G>C (p.Lys123Asn) rs755233365
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219
NM_001540.5(HSPB1):c.373_375GAG[1] (p.Glu126del) rs1554614633
NM_001540.5(HSPB1):c.37G>A (p.Gly13Ser) rs1475184454
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly) rs121909112
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys)
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.451A>C (p.Thr151Pro) rs771232749
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_001540.5(HSPB1):c.512del (p.Lys171fs) rs1554614680
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser)
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.572_584del (p.Leu191fs) rs771457306
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser)
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu)
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) rs762032846
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+10C>T rs200170825
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067
NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949
NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839
NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686
NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.2(IGHMBP2):c.1236-6G>A rs201538340
NM_002180.2(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)
NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His) rs769046350
NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218
NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro)
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.133del (p.Val45fs)
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)
NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334
NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1538-8C>G rs115320302
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys) rs757425203
NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)
NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr) rs759965718
NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg) rs1555247556
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)
NM_002180.2(IGHMBP2):c.1632+4C>T rs775832239
NM_002180.2(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1756+4C>T rs778913429
NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg)
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995
NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)
NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893
NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483
NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)
NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425
NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)
NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921
NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp)
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=) rs139237340
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358
NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772
NM_002180.2(IGHMBP2):c.2356del (p.Ala786fs)
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)
NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.2(IGHMBP2):c.2456C>T (p.Pro819Leu)
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)
NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)
NM_002180.2(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407
NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031
NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747
NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559
NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053
NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785
NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.2(IGHMBP2):c.639T>C (p.His213=) rs764495455
NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612
NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His) rs761191746
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His)
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)
NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His)
NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp) rs751421003
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)
NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469
NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser)
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
NM_004637.5(RAB7A):c.180+9A>G rs762831187
NM_004637.5(RAB7A):c.213G>A (p.Gln71=) rs140299645
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.21G>A (p.Val7=) rs140857794
NM_004637.5(RAB7A):c.321C>T (p.Leu107=) rs749227632
NM_004637.5(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004637.5(RAB7A):c.551A>G (p.Asn184Ser) rs752824265
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val)
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg)
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys)
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361
NM_004990.4(MARS1):c.1331T>C (p.Val444Ala)
NM_004990.4(MARS1):c.1366A>G (p.Lys456Glu) rs1395622723
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.1385A>G (p.Glu462Gly) rs1408685568
NM_004990.4(MARS1):c.144C>A (p.Val48=) rs1018358556
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1673C>A (p.Pro558His) rs771808261
NM_004990.4(MARS1):c.1689C>T (p.Val563=) rs117833843
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1754-1G>C
NM_004990.4(MARS1):c.1754-4C>A rs377361080
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.1813G>A (p.Asp605Asn)
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp)
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly)
NM_004990.4(MARS1):c.2033A>G (p.Asp678Gly) rs1205620243
NM_004990.4(MARS1):c.2053G>A (p.Val685Ile) rs558631075
NM_004990.4(MARS1):c.2116C>T (p.Arg706Cys) rs148501787
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser)
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2209C>A (p.Arg737=) rs139536122
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140
NM_004990.4(MARS1):c.2280G>A (p.Met760Ile)
NM_004990.4(MARS1):c.2294C>T (p.Ala765Val) rs559255944
NM_004990.4(MARS1):c.2391A>C (p.Thr797=) rs140573721
NM_004990.4(MARS1):c.244A>C (p.Asn82His)
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu)
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val)
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.2610T>C (p.Ala870=) rs769627922
NM_004990.4(MARS1):c.2613G>A (p.Ala871=) rs373439522
NM_004990.4(MARS1):c.2631_2635dup (p.Leu879fs) rs1172463219
NM_004990.4(MARS1):c.2666A>G (p.Lys889Arg) rs779548081
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser) rs35843015
NM_004990.4(MARS1):c.2678C>T (p.Ala893Val)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln)
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.4(MARS1):c.414+9G>C rs375026310
NM_004990.4(MARS1):c.42G>T (p.Pro14=) rs144002827
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.550C>T (p.Arg184Ter) rs753083306
NM_004990.4(MARS1):c.616C>T (p.Pro206Ser) rs1565637642
NM_004990.4(MARS1):c.617C>T (p.Pro206Leu) rs138776588
NM_004990.4(MARS1):c.661G>A (p.Glu221Lys) rs200334446
NM_004990.4(MARS1):c.663+8A>C rs199843552
NM_004990.4(MARS1):c.66C>T (p.Ala22=) rs200471304
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364
NM_004990.4(MARS1):c.749T>C (p.Leu250Pro) rs139033078
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469
NM_004990.4(MARS1):c.801C>T (p.Leu267=) rs151260441
NM_004990.4(MARS1):c.823G>A (p.Val275Ile)
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_004990.4(MARS1):c.906_919delinsCTC (p.Gln302fs) rs1555166943
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659
NM_004990.4(MARS1):c.95C>G (p.Thr32Ser) rs11540809
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr)
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) rs35596950
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met)
NM_006158.4(NEFL):c.1044+5G>C
NM_006158.4(NEFL):c.1044G>A (p.Gln348=)
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1117C>T (p.Gln373Ter) rs757417962
NM_006158.4(NEFL):c.1154A>T (p.Glu385Val) rs1563251398
NM_006158.4(NEFL):c.1175T>A (p.Leu392His) rs1554497393
NM_006158.4(NEFL):c.1179G>C (p.Leu393Phe) rs879253927
NM_006158.4(NEFL):c.1185C>T (p.Gly395=) rs751512030
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) rs62636503
NM_006158.4(NEFL):c.1196G>A (p.Arg399Gln)
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1213G>A (p.Val405Met)
NM_006158.4(NEFL):c.1261C>A (p.Arg421=) rs191346286
NM_006158.4(NEFL):c.1275C>T (p.Gly425=) rs114329068
NM_006158.4(NEFL):c.1287C>T (p.Thr429=) rs1554497362
NM_006158.4(NEFL):c.1292C>G (p.Ser431Cys)
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile)
NM_006158.4(NEFL):c.1324_1326TAC[1] (p.Tyr443del) rs1554497354
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1333A>G (p.Ser445Gly) rs1563251190
NM_006158.4(NEFL):c.1340T>C (p.Val447Ala) rs1045761358
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.4(NEFL):c.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1462G>A (p.Glu488Lys) rs773570365
NM_006158.4(NEFL):c.1513G>A (p.Ala505Thr) rs1060503694
NM_006158.4(NEFL):c.1528G>A (p.Glu510Lys)
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys)
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg)
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.4(NEFL):c.1610A>G (p.Gln537Arg) rs377121179
NM_006158.4(NEFL):c.207G>A (p.Glu69=) rs367732440
NM_006158.4(NEFL):c.217C>G (p.Leu73Val) rs755889503
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser)
NM_006158.4(NEFL):c.243C>A (p.Asn81Lys) rs761847300
NM_006158.4(NEFL):c.270G>C (p.Glu90Asp) rs767370918
NM_006158.4(NEFL):c.289C>A (p.Leu97Ile)
NM_006158.4(NEFL):c.289C>T (p.Leu97Phe) rs587777888
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.415T>A (p.Tyr139Asn)
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys)
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln)
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly)
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn)
NM_006158.4(NEFL):c.579G>A (p.Met193Ile) rs367943135
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.58G>A (p.Glu20Lys)
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.598G>C (p.Asp200His)
NM_006158.4(NEFL):c.608C>T (p.Ala203Val)
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.637A>G (p.Ile213Val)
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.65C>A (p.Pro22His) rs267607538
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.668T>C (p.Leu223Pro) rs1563251953
NM_006158.4(NEFL):c.677T>C (p.Val226Ala)
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly)
NM_006158.4(NEFL):c.688G>A (p.Glu230Lys) rs758201328
NM_006158.4(NEFL):c.716A>G (p.Gln239Arg) rs1170226456
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala)
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu)
NM_006158.4(NEFL):c.761T>C (p.Leu254Pro) rs1554497578
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.793T>G (p.Tyr265Asp) rs1554497573
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.4(NEFL):c.797A>G (p.Glu266Gly) rs1367433683
NM_006158.4(NEFL):c.808G>T (p.Ala270Ser)
NM_006158.4(NEFL):c.821A>G (p.Gln274Arg) rs756114856
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006158.4(NEFL):c.882C>A (p.Asn294Lys) rs946938553
NM_006158.4(NEFL):c.968G>C (p.Arg323Pro) rs864622499
NM_006158.4(NEFL):c.983C>A (p.Ala328Glu) rs768190580
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_006158.4(NEFL):c.986T>C (p.Leu329Pro) rs876661290
NM_006158.4(NEFL):c.990_1013dup (p.Glu330_Glu337dup)
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg)
NM_014365.2(HSPB8):c.164G>A (p.Arg55His)
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val)
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) rs55826713
NM_014365.2(HSPB8):c.250G>A (p.Glu84Lys)
NM_014365.2(HSPB8):c.266C>A (p.Pro89Gln) rs35909818
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.266C>T (p.Pro89Leu)
NM_014365.2(HSPB8):c.319C>T (p.Pro107Ser) rs146000958
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.421A>C (p.Lys141Gln)
NM_014365.2(HSPB8):c.432-10T>A rs368810689
NM_014365.2(HSPB8):c.437C>G (p.Pro146Arg) rs1565930539
NM_014365.2(HSPB8):c.472C>T (p.Leu158Phe)
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr)
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014365.2(HSPB8):c.512T>C (p.Val171Ala) rs878854979
NM_014365.2(HSPB8):c.523T>G (p.Ser175Ala)
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.536A>G (p.Glu179Gly) rs863224767
NM_014365.2(HSPB8):c.541A>T (p.Ser181Cys)
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.553G>A (p.Glu185Lys) rs774648716
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg)
NM_014365.2(HSPB8):c.580A>T (p.Thr194Ser) rs771995241
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014365.2(HSPB8):c.584G>A (p.Cys195Tyr)
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln)
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=) rs115515921
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser)
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met)
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=) rs116558260
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=) rs779795369
NM_015271.5(TRIM2):c.1087C>T (p.Arg363Trp)
NM_015271.5(TRIM2):c.1094C>G (p.Thr365Ser) rs146686472
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=) rs116472166
NM_015271.5(TRIM2):c.1144G>T (p.Gly382Cys)
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=) rs770558554
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu)
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln)
NM_015271.5(TRIM2):c.1368C>T (p.Pro456=) rs1295920622
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu) rs147859999
NM_015271.5(TRIM2):c.153T>C (p.Ser51=) rs764154708
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser)
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His)
NM_015271.5(TRIM2):c.1664G>A (p.Arg555His)
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=)
NM_015271.5(TRIM2):c.1673G>A (p.Gly558Glu) rs1305793582
NM_015271.5(TRIM2):c.167G>A (p.Arg56Gln)
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=) rs756285274
NM_015271.5(TRIM2):c.1767C>T (p.Ser589=) rs767007696
NM_015271.5(TRIM2):c.1793G>T (p.Gly598Val)
NM_015271.5(TRIM2):c.1835G>A (p.Arg612His) rs114415780
NM_015271.5(TRIM2):c.1838A>G (p.Asn613Ser)
NM_015271.5(TRIM2):c.1846A>G (p.Ile616Val) rs1561013892
NM_015271.5(TRIM2):c.1876G>A (p.Val626Met) rs759524701
NM_015271.5(TRIM2):c.189C>T (p.Leu63=) rs558845725
NM_015271.5(TRIM2):c.1964C>A (p.Ala655Glu) rs1554002777
NM_015271.5(TRIM2):c.1990A>G (p.Ile664Val)
NM_015271.5(TRIM2):c.2049G>A (p.Met683Ile)
NM_015271.5(TRIM2):c.210C>T (p.Cys70=)
NM_015271.5(TRIM2):c.2169T>C (p.Phe723=) rs148412849
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014
NM_015271.5(TRIM2):c.220C>T (p.Leu74=) rs12644835
NM_015271.5(TRIM2):c.2215C>T (p.Pro739Ser)
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=)
NM_015271.5(TRIM2):c.251C>T (p.Thr84Ile) rs745985238
NM_015271.5(TRIM2):c.305C>T (p.Ala102Val)
NM_015271.5(TRIM2):c.328A>G (p.Ile110Val)
NM_015271.5(TRIM2):c.346G>A (p.Val116Met) rs763365056
NM_015271.5(TRIM2):c.444C>T (p.His148=) rs771241708
NM_015271.5(TRIM2):c.485C>A (p.Thr162Asn)
NM_015271.5(TRIM2):c.497G>A (p.Arg166Gln) rs146252965
NM_015271.5(TRIM2):c.512G>C (p.Gly171Ala) rs1553992552
NM_015271.5(TRIM2):c.520G>A (p.Ala174Thr)
NM_015271.5(TRIM2):c.541C>T (p.Leu181Phe)
NM_015271.5(TRIM2):c.550G>A (p.Val184Met)
NM_015271.5(TRIM2):c.560A>G (p.Gln187Arg)
NM_015271.5(TRIM2):c.659T>C (p.Leu220Ser) rs759938444
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn)
NM_015271.5(TRIM2):c.688G>T (p.Asp230Tyr) rs1560963959
NM_015271.5(TRIM2):c.756A>C (p.Glu252Asp) rs138228404
NM_015271.5(TRIM2):c.786+10G>A rs1268924136
NM_015271.5(TRIM2):c.797C>A (p.Ser266Ter)
NM_015271.5(TRIM2):c.816C>T (p.Leu272=) rs149607572
NM_015271.5(TRIM2):c.858G>A (p.Ala286=) rs770000289
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_015271.5(TRIM2):c.914G>A (p.Ser305Asn)
NM_015271.5(TRIM2):c.927C>T (p.Asn309=) rs142242737
NM_015271.5(TRIM2):c.959C>T (p.Pro320Leu)
NM_015271.5(TRIM2):c.969C>T (p.Asn323=) rs116365246
NM_021625.4(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.4(TRPV4):c.1039G>T (p.Asp347Tyr)
NM_021625.4(TRPV4):c.1062C>T (p.Ala354=) rs115446386
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=) rs140040335
NM_021625.4(TRPV4):c.1076_1093del (p.Asp359_Ala364del)
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.114T>A (p.Asn38Lys) rs878853090
NM_021625.4(TRPV4):c.1152+10C>T rs766655934
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.4(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253
NM_021625.4(TRPV4):c.1277C>T (p.Thr426Met)
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952
NM_021625.4(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155
NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615
NM_021625.4(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547
NM_021625.4(TRPV4):c.137C>T (p.Ser46Phe) rs202066574
NM_021625.4(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874
NM_021625.4(TRPV4):c.1392C>T (p.Arg464=)
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.4(TRPV4):c.1449C>G (p.Val483=) rs1060504550
NM_021625.4(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.4(TRPV4):c.145C>A (p.Pro49Thr)
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1465G>A (p.Ala489Thr)
NM_021625.4(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.1491+5G>A
NM_021625.4(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811
NM_021625.4(TRPV4):c.1505A>T (p.Tyr502Phe)
NM_021625.4(TRPV4):c.1514C>T (p.Thr505Met)
NM_021625.4(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138
NM_021625.4(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.153G>A (p.Pro51=) rs577306678
NM_021625.4(TRPV4):c.1543G>T (p.Val515Phe)
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
NM_021625.4(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960
NM_021625.4(TRPV4):c.1581C>T (p.Thr527=) rs114653066
NM_021625.4(TRPV4):c.1584+1G>A rs775922797
NM_021625.4(TRPV4):c.1584C>T (p.Asn528=)
NM_021625.4(TRPV4):c.159T>A (p.Asp53Glu) rs765021989
NM_021625.4(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.4(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1658+5G>A rs756714651
NM_021625.4(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1706C>G (p.Ala569Gly)
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met)
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.1825-8G>A rs1565864062
NM_021625.4(TRPV4):c.183C>T (p.Gly61=)
NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn)
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422
NM_021625.4(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.4(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512
NM_021625.4(TRPV4):c.1981C>T (p.Arg661Cys)
NM_021625.4(TRPV4):c.1989C>G (p.Ser663Arg)
NM_021625.4(TRPV4):c.202C>T (p.Arg68Cys)
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.205A>C (p.Met69Leu) rs200199102
NM_021625.4(TRPV4):c.2077G>A (p.Val693Met)
NM_021625.4(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.4(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633
NM_021625.4(TRPV4):c.2211G>C (p.Trp737Cys)
NM_021625.4(TRPV4):c.2244C>T (p.Phe748=) rs1340974810
NM_021625.4(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2289C>T (p.Thr763=) rs202036871
NM_021625.4(TRPV4):c.2290G>T (p.Val764Leu)
NM_021625.4(TRPV4):c.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.4(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919
NM_021625.4(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.4(TRPV4):c.2432C>T (p.Ser811Leu)
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2440G>T (p.Val814Leu) rs202075458
NM_021625.4(TRPV4):c.2447G>A (p.Arg816His)
NM_021625.4(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875
NM_021625.4(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.4(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.4(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2499C>A (p.Asn833Lys)
NM_021625.4(TRPV4):c.2508G>A (p.Ser836=) rs201884175
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.2521G>A (p.Val841Met)
NM_021625.4(TRPV4):c.2560G>C (p.Asp854His)
NM_021625.4(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.4(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.4(TRPV4):c.25C>T (p.Arg9Cys) rs758741868
NM_021625.4(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764
NM_021625.4(TRPV4):c.26G>A (p.Arg9His) rs776163103
NM_021625.4(TRPV4):c.281C>T (p.Ser94Leu) rs201927283
NM_021625.4(TRPV4):c.300G>A (p.Lys100=) rs370135765
NM_021625.4(TRPV4):c.331G>A (p.Gly111Ser) rs768721947
NM_021625.4(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.345C>G (p.His115Gln)
NM_021625.4(TRPV4):c.34C>T (p.Pro12Ser)
NM_021625.4(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.4(TRPV4):c.37G>T (p.Gly13Trp) rs763302555
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.387-6C>T rs775634013
NM_021625.4(TRPV4):c.395C>T (p.Pro132Leu) rs779371027
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.472G>A (p.Val158Met) rs746905653
NM_021625.4(TRPV4):c.479G>A (p.Arg160Gln) rs139300843
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.50A>G (p.Glu17Gly)
NM_021625.4(TRPV4):c.523A>G (p.Thr175Ala) rs146304351
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.556C>T (p.Arg186Ter)
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.593C>G (p.Ala198Gly) rs775317084
NM_021625.4(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.4(TRPV4):c.616C>T (p.Arg206Cys) rs200497189
NM_021625.4(TRPV4):c.646A>G (p.Ile216Val) rs1318320106
NM_021625.4(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.651G>A (p.Ala217=) rs371280831
NM_021625.4(TRPV4):c.655C>T (p.Arg219Cys) rs754023659
NM_021625.4(TRPV4):c.656G>A (p.Arg219His) rs767331924
NM_021625.4(TRPV4):c.661G>A (p.Gly221Ser)
NM_021625.4(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.4(TRPV4):c.686C>T (p.Ser229Leu)
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.4(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.4(TRPV4):c.709C>T (p.Arg237Ter) rs746368269
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.4(TRPV4):c.711A>G (p.Arg237=) rs927188562
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.712+5G>A rs372251308
NM_021625.4(TRPV4):c.737T>C (p.Ile246Thr)
NM_021625.4(TRPV4):c.746G>A (p.Arg249His)
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.4(TRPV4):c.805C>T (p.Arg269Cys) rs267607146
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.820C>T (p.Gln274Ter)
NM_021625.4(TRPV4):c.827A>C (p.Lys276Thr)
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.4(TRPV4):c.834G>T (p.Glu278Asp)
NM_021625.4(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021625.4(TRPV4):c.877G>A (p.Ala293Thr)
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.4(TRPV4):c.915G>A (p.Thr305=) rs1565870990
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val)
NM_021625.4(TRPV4):c.940A>G (p.Met314Val) rs151101009
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) rs267607143
NM_021625.4(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.4(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.4(TRPV4):c.956C>T (p.Ser319Leu) rs377518118
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_138361.5(LRSAM1):c.1013G>A (p.Arg338Gln) rs762000052
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1035C>G (p.Asp345Glu)
NM_138361.5(LRSAM1):c.1037A>G (p.Asn346Ser)
NM_138361.5(LRSAM1):c.103G>A (p.Asp35Asn) rs551183702
NM_138361.5(LRSAM1):c.1043+2T>G
NM_138361.5(LRSAM1):c.1043+5G>A rs780868977
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1060G>A (p.Glu354Lys)
NM_138361.5(LRSAM1):c.1067T>C (p.Leu356Ser) rs142958539
NM_138361.5(LRSAM1):c.1076T>G (p.Leu359Arg) rs1466479388
NM_138361.5(LRSAM1):c.1088+1G>C
NM_138361.5(LRSAM1):c.1091T>C (p.Ile364Thr)
NM_138361.5(LRSAM1):c.1102C>G (p.Gln368Glu)
NM_138361.5(LRSAM1):c.1109T>C (p.Met370Thr) rs377079293
NM_138361.5(LRSAM1):c.1142G>A (p.Arg381Gln)
NM_138361.5(LRSAM1):c.1145G>A (p.Arg382Gln)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile)
NM_138361.5(LRSAM1):c.1160C>A (p.Ser387Tyr) rs758094270
NM_138361.5(LRSAM1):c.1162G>A (p.Ala388Thr)
NM_138361.5(LRSAM1):c.1199G>A (p.Arg400Gln) rs150344223
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.122T>C (p.Leu41Pro)
NM_138361.5(LRSAM1):c.1236C>A (p.Asn412Lys)
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1264G>T (p.Ala422Ser)
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) rs138226428
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_138361.5(LRSAM1):c.1347+6C>T
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1352C>T (p.Ala451Val) rs751593173
NM_138361.5(LRSAM1):c.1367C>T (p.Ala456Val) rs1299851938
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.13T>C (p.Phe5Leu)
NM_138361.5(LRSAM1):c.1422+6C>T rs745690669
NM_138361.5(LRSAM1):c.1491_1492AG[1] (p.Glu498fs)
NM_138361.5(LRSAM1):c.1498C>T (p.Leu500Phe)
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1510A>T (p.Ile504Phe) rs1472578658
NM_138361.5(LRSAM1):c.1537T>C (p.Ser513Pro) rs748161826
NM_138361.5(LRSAM1):c.1588C>T (p.Arg530Trp)
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_138361.5(LRSAM1):c.1619G>T (p.Ser540Ile) rs1400819662
NM_138361.5(LRSAM1):c.1632G>A (p.Gln544=) rs762712712
NM_138361.5(LRSAM1):c.1660C>T (p.Arg554Trp) rs757208185
NM_138361.5(LRSAM1):c.1694del (p.Leu565fs) rs749012928
NM_138361.5(LRSAM1):c.1717C>A (p.Gln573Lys) rs150882646
NM_138361.5(LRSAM1):c.1747G>A (p.Ala583Thr) rs1202628332
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1780C>T (p.Arg594Cys) rs150062009
NM_138361.5(LRSAM1):c.17G>A (p.Arg6Gln)
NM_138361.5(LRSAM1):c.1802G>C (p.Ser601Thr)
NM_138361.5(LRSAM1):c.1806A>T (p.Gln602His) rs1462342285
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.1837G>A (p.Val613Ile)
NM_138361.5(LRSAM1):c.184G>A (p.Val62Ile) rs570688892
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_138361.5(LRSAM1):c.1877T>G (p.Val626Gly) rs574202204
NM_138361.5(LRSAM1):c.1892A>G (p.Asp631Gly) rs1564283787
NM_138361.5(LRSAM1):c.1905C>G (p.Ile635Met)
NM_138361.5(LRSAM1):c.1913-1G>A rs756880678
NM_138361.5(LRSAM1):c.1921C>T (p.Pro641Ser)
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1936G>A (p.Val646Ile) rs748358043
NM_138361.5(LRSAM1):c.1939G>A (p.Val647Ile) rs879254326
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1952C>T (p.Ala651Val)
NM_138361.5(LRSAM1):c.1957dup (p.Gln653fs)
NM_138361.5(LRSAM1):c.1963C>T (p.Pro655Ser) rs1291622809
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs)
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2036T>C (p.Leu679Pro) rs1564286814
NM_138361.5(LRSAM1):c.2041C>T (p.Arg681Trp)
NM_138361.5(LRSAM1):c.2042G>A (p.Arg681Gln) rs143479340
NM_138361.5(LRSAM1):c.2042G>C (p.Arg681Pro)
NM_138361.5(LRSAM1):c.2043_2044dup (p.Glu682fs) rs1554762671
NM_138361.5(LRSAM1):c.2047-1G>A rs1564287793
NM_138361.5(LRSAM1):c.2062C>A (p.Leu688Ile) rs765956865
NM_138361.5(LRSAM1):c.206C>G (p.Ser69Cys) rs942116544
NM_138361.5(LRSAM1):c.2076C>A (p.His692Gln) rs753650841
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2087G>A (p.Cys696Tyr)
NM_138361.5(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_138361.5(LRSAM1):c.2095T>C (p.Cys699Arg) rs1341295542
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.2108T>C (p.Leu703Pro)
NM_138361.5(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.2119C>T (p.Pro707Ser)
NM_138361.5(LRSAM1):c.2121G>A (p.Pro707=) rs570732998
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.2146C>T (p.Arg716Cys)
NM_138361.5(LRSAM1):c.2152C>T (p.Arg718Cys)
NM_138361.5(LRSAM1):c.2153G>A (p.Arg718His) rs764890552
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.252+1G>A rs1554753670
NM_138361.5(LRSAM1):c.267C>T (p.His89=) rs148528063
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.300G>A (p.Leu100=)
NM_138361.5(LRSAM1):c.375C>A (p.Asn125Lys)
NM_138361.5(LRSAM1):c.382C>A (p.Gln128Lys)
NM_138361.5(LRSAM1):c.388C>T (p.Gln130Ter) rs1554754342
NM_138361.5(LRSAM1):c.392C>T (p.Thr131Ile) rs772202137
NM_138361.5(LRSAM1):c.436G>C (p.Val146Leu) rs555377969
NM_138361.5(LRSAM1):c.44G>A (p.Arg15Gln)
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.497C>T (p.Pro166Leu) rs142085060
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_138361.5(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_138361.5(LRSAM1):c.528G>A (p.Glu176=) rs1564255509
NM_138361.5(LRSAM1):c.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.563C>T (p.Pro188Leu) rs138830549
NM_138361.5(LRSAM1):c.567G>A (p.Pro189=) rs761890031
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_138361.5(LRSAM1):c.580G>A (p.Gly194Ser) rs1193320677
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.593C>A (p.Ala198Glu) rs758867006
NM_138361.5(LRSAM1):c.593C>T (p.Ala198Val) rs758867006
NM_138361.5(LRSAM1):c.604C>G (p.Gln202Glu) rs746274685
NM_138361.5(LRSAM1):c.620-3C>T rs373015900
NM_138361.5(LRSAM1):c.636C>G (p.Tyr212Ter) rs1345228128
NM_138361.5(LRSAM1):c.643C>A (p.Pro215Thr) rs765389102
NM_138361.5(LRSAM1):c.64A>T (p.Met22Leu)
NM_138361.5(LRSAM1):c.694C>T (p.Arg232Trp)
NM_138361.5(LRSAM1):c.695G>A (p.Arg232Gln)
NM_138361.5(LRSAM1):c.717G>A (p.Thr239=) rs769930277
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.82G>T (p.Ala28Ser) rs1564248714
NM_138361.5(LRSAM1):c.840G>A (p.Glu280=) rs199947399
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138361.5(LRSAM1):c.893C>T (p.Thr298Met)
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533
NM_138361.5(LRSAM1):c.89C>A (p.Ala30Glu) rs769070078
NM_138361.5(LRSAM1):c.913C>T (p.Arg305Trp) rs376566243
NM_138361.5(LRSAM1):c.91G>A (p.Asp31Asn) rs1564248731
NM_138361.5(LRSAM1):c.937C>T (p.His313Tyr)
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.962G>A (p.Arg321Gln) rs145881988
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300

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