ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5636
Download table as spreadsheet
HGVS dbSNP
NC_000001.10:g.(?_33241563)_(46663513_?)dup
NC_000001.11:g.(?_32775971)_(32797853_?)dup
NC_000001.11:g.(?_32810581)_(32811067_?)del
NC_000001.11:g.(?_32810591)_(32811057_?)del
NC_000001.11:g.(?_6467553)_(6477668_?)del
NC_000001.11:g.(?_6474003)_(6477668_?)del
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NC_000003.11:g.(?_179118981)_(179144008_?)dup
NC_000003.12:g.(?_128795358)_(128813432_?)dup
NC_000003.12:g.(?_179401203)_(179426210_?)dup
NC_000004.12:g.(?_153204511)_(153276150_?)del
NC_000005.10:g.(?_110743720)_(110743797_?)del
NC_000005.10:g.(?_131159273)_(131165358_?)del
NC_000005.10:g.(?_131159427)_(131165225_?)del
NC_000005.10:g.(?_149040594)_(149040687_?)del
NC_000005.10:g.(?_149047842)_(149048009_?)del
NC_000005.10:g.(?_149062971)_(149063174_?)del
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000005.9:g.(?_130494966)_(130501051_?)dup
NC_000006.12:g.(?_109691416)_(109691521_?)del
NC_000006.12:g.(?_109741424)_(109743792_?)del
NC_000006.12:g.(?_109825078)_(109825275_?)del
NC_000007.13:g.(?_75931813)_(75933510_?)dup
NC_000007.14:g.(?_76301442)_(76304183_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000007.14:g.(?_76303789)_(76304183_?)del
NC_000007.14:g.(?_76303802)_(76304173_?)del
NC_000008.10:g.(?_133141489)_(134296574_?)dup
NC_000008.10:g.(?_24810303)_(24814049_?)dup
NC_000008.10:g.(?_24810313)_(24814039_?)dup
NC_000008.10:g.(?_74888497)_(75274233_?)dup
NC_000008.11:g.(?_133236171)_(133298304_?)dup
NC_000008.11:g.(?_74349383)_(74368110_?)dup
NC_000009.12:g.(?_127454518)_(127502909_?)dup
NC_000009.12:g.(?_127461163)_(127473941_?)del
NC_000009.12:g.(?_127501000)_(127501153_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NC_000009.12:g.(?_127502774)_(127503501_?)del
NC_000011.10:g.(?_10028442)_(10193997_?)del
NC_000011.10:g.(?_10193902)_(10193987_?)del
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_68908125)_(68908651_?)del
NC_000011.10:g.(?_9780408)_(10042991_?)del
NC_000011.10:g.(?_9807990)_(9858406_?)del
NC_000012.11:g.(?_32786463)_(32832419_?)dup
NC_000012.12:g.(?_32576256)_(32640543_?)del
NC_000012.12:g.(?_32576352)_(32619876_?)del
NC_000012.12:g.(?_32598477)_(32598606_?)del
NC_000012.12:g.(?_32633539)_(32640543_?)dup
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_101925141)_(101964947_?)del
NC_000014.9:g.(?_102026564)_(102050573_?)dup
NC_000014.9:g.(?_104701356)_(104703963_?)del
NC_000016.10:g.(?_11549637)_(11556730_?)dup
NC_000016.9:g.(?_11643473)_(11650606_?)dup
NC_000019.10:g.(?_10718233)_(10759821_?)dup
NC_000019.10:g.(?_10718233)_(10786716_?)dup
NC_000019.10:g.(?_10819960)_(10823919_?)dup
NC_000019.10:g.(?_10819970)_(10823909_?)dup
NC_000019.10:g.(?_10819970)_(10831057_?)dup
NC_000019.10:g.(?_40403686)_(40403882_?)del
NC_000019.10:g.(?_40403696)_(40403872_?)del
NC_000019.9:g.(?_10828899)_(10870507_?)dup
NC_000019.9:g.(?_10828899)_(10897402_?)dup
NC_000019.9:g.(?_40899863)_(40913849_?)dup
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NG_051334.1:g.(?_5985)_(28647_?)del
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1159_1162AGCC[3] (p.Val390fs)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) rs771151036
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) rs202033889
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
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.1797C>G (p.Ala599=) rs146715254
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.1899C>T (p.Ala633=) rs767268083
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
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.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.531+1G>A
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.764+10C>T rs372400832
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) rs146734024
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val) rs767838513
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005360.2(DNM2):c.1071C>T (p.Ser357=) rs779241319
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) rs1280243348
NM_001005360.2(DNM2):c.1335+1G>A rs1431565635
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln) rs140043676
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly) rs745748213
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.1418A>T (p.Asp473Val) rs766613900
NM_001005360.2(DNM2):c.1422+9C>T rs199952853
NM_001005360.2(DNM2):c.1437C>T (p.Ile479=) rs146506201
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val) rs758246840
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
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) rs368752035
NM_001005360.2(DNM2):c.161+3G>A rs1555696272
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.162-7C>T rs148318860
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) rs538253489
NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr) rs144763522
NM_001005360.2(DNM2):c.1671+3G>C rs942932745
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
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) rs773598203
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) rs1274228418
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr) rs587778236
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) rs752080566
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.2105C>T (p.Ser702Leu) rs745382488
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg) rs374041367
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
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.2201A>G (p.Asn734Ser) rs577767034
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.2253T>C (p.Pro751=) rs200155565
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn) rs754691182
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 rs200408852
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=) rs779394836
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys) rs374864354
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
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) rs780738840
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) rs1285468865
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=) rs751961437
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met) rs755608537
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
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
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.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=) rs144472798
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg) rs1340636700
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp) rs200408053
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) rs375151459
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser) rs1014814501
NM_001005360.2(DNM2):c.33G>A (p.Pro11=) rs779502758
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005360.2(DNM2):c.384C>T (p.His128=) rs201089328
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn) rs370086632
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) rs200002469
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) rs748887276
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) rs542515194
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys) rs767908123
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn) rs145478270
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005360.2(DNM2):c.645C>T (p.Asp215=) rs148900299
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile) rs111845811
NM_001005360.2(DNM2):c.666C>T (p.Asn222=) rs2229921
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) rs749672066
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) rs752195631
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.789G>A (p.Pro263=) rs199976453
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln) rs754507545
NM_001005360.2(DNM2):c.800A>G (p.His267Arg) rs1412618988
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys) rs138128705
NM_001005360.2(DNM2):c.812G>A (p.Arg271His) rs781546006
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) rs587778235
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp) rs587778235
NM_001005360.2(DNM2):c.876G>A (p.Ser292=) rs749140605
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_001005361.3(DNM2):c.1012G>A (p.Val338Met)
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)
NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)
NM_001005361.3(DNM2):c.1188T>C (p.His396=) rs1039592560
NM_001005361.3(DNM2):c.1196+625C>T rs542089703
NM_001005361.3(DNM2):c.1196+626G>A
NM_001005361.3(DNM2):c.1196+628G>C rs374376619
NM_001005361.3(DNM2):c.1196+640G>A
NM_001005361.3(DNM2):c.1196+652C>T rs377319162
NM_001005361.3(DNM2):c.1196+707G>C
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)
NM_001005361.3(DNM2):c.1423-8T>C rs1599583116
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)
NM_001005361.3(DNM2):c.1493+5G>A
NM_001005361.3(DNM2):c.1558-9T>G rs748026953
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=) rs774973372
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)
NM_001005361.3(DNM2):c.161+12_161+29dup rs750378486
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)
NM_001005361.3(DNM2):c.1782-7C>G
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=) rs201972896
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
NM_001005361.3(DNM2):c.2291+5G>A
NM_001005361.3(DNM2):c.2292-7C>G
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu) rs202060910
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=) rs200782592
NM_001005361.3(DNM2):c.2543+5G>C
NM_001005361.3(DNM2):c.2544-3C>T
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.315C>T (p.Thr105=) rs111837150
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)
NM_001005361.3(DNM2):c.386-6T>C rs114623441
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
NM_001005361.3(DNM2):c.453C>T (p.Asp151=) rs201681441
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
NM_001005361.3(DNM2):c.514C>T (p.Leu172=) rs1599530007
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)
NM_001005361.3(DNM2):c.642C>G (p.Thr214=) rs752944817
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
NM_001005361.3(DNM2):c.700G>A (p.Val234Met)
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)
NM_001005361.3(DNM2):c.807C>T (p.Ala269=) rs752361306
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)
NM_001005361.3(DNM2):c.849+7C>T
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)
NM_001005361.3(DNM2):c.900A>G (p.Leu300=) rs1599552753
NM_001005361.3(DNM2):c.936G>A (p.Glu312=) rs949106319
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) rs119483085
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.*107C>T rs774123275
NM_001136473.1(LITAF):c.*117C>T rs748017885
NM_001136473.1(LITAF):c.*118G>A rs864622744
NM_001136473.1(LITAF):c.*17-3C>T rs774213197
NM_001136473.1(LITAF):c.*43C>T rs797044848
NM_001136473.1(LITAF):c.*48T>C
NM_001136473.1(LITAF):c.*49G>A rs144232569
NM_001136473.1(LITAF):c.*50C>T rs748118642
NM_001136473.1(LITAF):c.*51G>A rs780788687
NM_001136473.1(LITAF):c.*57G>A rs754821950
NM_001136473.1(LITAF):c.*63C>T rs1174214039
NM_001136473.1(LITAF):c.*68C>A rs374918259
NM_001136473.1(LITAF):c.*69G>T
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.115C>T (p.Pro39Ser) rs375202318
NM_001136473.1(LITAF):c.124G>T (p.Gly42Trp)
NM_001136473.1(LITAF):c.135G>A (p.Thr45=) rs758166691
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.151C>T (p.Pro51Ser) rs752978718
NM_001136473.1(LITAF):c.157G>A (p.Gly53Arg)
NM_001136473.1(LITAF):c.172C>T (p.Pro58Ser)
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu) rs765644026
NM_001136473.1(LITAF):c.17C>T (p.Pro6Leu)
NM_001136473.1(LITAF):c.205C>T (p.Pro69Ser) rs1555466907
NM_001136473.1(LITAF):c.209A>G (p.Asn70Ser) rs746577483
NM_001136473.1(LITAF):c.220+4C>T
NM_001136473.1(LITAF):c.223A>G (p.Thr75Ala) rs756539992
NM_001136473.1(LITAF):c.226G>A (p.Val76Met) rs371334679
NM_001136473.1(LITAF):c.226G>T (p.Val76Leu) rs371334679
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.236T>C (p.Val79Ala) rs1597329501
NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) rs539627278
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.25G>A (p.Ala9Thr) rs1267030887
NM_001136473.1(LITAF):c.268C>T (p.Arg90Cys) rs375665454
NM_001136473.1(LITAF):c.26C>T (p.Ala9Val)
NM_001136473.1(LITAF):c.272C>T (p.Pro91Leu) rs11544251
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.302A>G (p.Lys101Arg) rs201283647
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) rs373445989
NM_001136473.1(LITAF):c.310G>T (p.Val104Leu)
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile) rs200702853
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136473.1(LITAF):c.340C>G (p.Leu114Val) rs1567235442
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136473.1(LITAF):c.351G>C (p.Leu117=) rs372220196
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001136473.1(LITAF):c.371T>C (p.Leu124Pro) rs1597329148
NM_001136473.1(LITAF):c.374T>C (p.Leu125Pro)
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.45A>G (p.Ser15=) rs112192052
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) rs150211233
NM_001136473.1(LITAF):c.55G>A (p.Ala19Thr)
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001136473.1(LITAF):c.85G>A (p.Val29Ile) rs767809270
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479
NM_001142386.3(PDK3):c.1077+8G>A rs370736936
NM_001142386.3(PDK3):c.1083T>C (p.Leu361=) rs746261967
NM_001142386.3(PDK3):c.1126G>A (p.Ala376Thr) rs781166988
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782
NM_001142386.3(PDK3):c.160C>T (p.Pro54Ser) rs1569221445
NM_001142386.3(PDK3):c.249-8C>T rs1231289510
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.3(PDK3):c.320+6T>C rs748960946
NM_001142386.3(PDK3):c.336G>C (p.Leu112=) rs372442017
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_001142386.3(PDK3):c.474C>T (p.Arg158=) rs756879455
NM_001142386.3(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_001142386.3(PDK3):c.486C>T (p.Arg162=) rs1479754596
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001142386.3(PDK3):c.562G>A (p.Asp188Asn) rs1165981822
NM_001142386.3(PDK3):c.582G>A (p.Ala194=) rs144345856
NM_001142386.3(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_001142386.3(PDK3):c.751-10A>G rs372774822
NM_001142386.3(PDK3):c.811A>G (p.Lys271Glu) rs1569227273
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001190723.3(LRSAM1):c.1423-1517_1423-1516del rs1588132672
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001303256.3(MORC2):c.1000C>G (p.Gln334Glu)
NM_001303256.3(MORC2):c.1018A>G (p.Ile340Val) rs1602487890
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) rs1602486072
NM_001303256.3(MORC2):c.1118A>G (p.Asn373Ser) rs762901266
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001303256.3(MORC2):c.1213A>G (p.Met405Val)
NM_001303256.3(MORC2):c.1217C>T (p.Ala406Val) rs1602485728
NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) rs1555938741
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.1310G>A (p.Arg437Gln)
NM_001303256.3(MORC2):c.1340T>G (p.Leu447Arg)
NM_001303256.3(MORC2):c.1368C>A (p.Ile456=) rs777612473
NM_001303256.3(MORC2):c.1369+5T>A
NM_001303256.3(MORC2):c.1370-3C>T rs770913783
NM_001303256.3(MORC2):c.1379G>A (p.Gly460Glu) rs1569192110
NM_001303256.3(MORC2):c.1446G>T (p.Glu482Asp) rs897870181
NM_001303256.3(MORC2):c.1447C>G (p.Leu483Val) rs367704663
NM_001303256.3(MORC2):c.1466G>A (p.Arg489Lys) rs1602485184
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.1532A>G (p.Gln511Arg)
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=) rs566259942
NM_001303256.3(MORC2):c.1541C>G (p.Ser514Cys)
NM_001303256.3(MORC2):c.1558C>T (p.Pro520Ser) rs1555938391
NM_001303256.3(MORC2):c.1561G>T (p.Asp521Tyr) rs749364295
NM_001303256.3(MORC2):c.158-5T>G
NM_001303256.3(MORC2):c.1603C>T (p.Arg535Trp)
NM_001303256.3(MORC2):c.1604G>A (p.Arg535Gln) rs750003469
NM_001303256.3(MORC2):c.1605-3C>T rs111618347
NM_001303256.3(MORC2):c.1650C>G (p.Phe550Leu) rs1338480863
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=) rs759248549
NM_001303256.3(MORC2):c.1723C>A (p.Leu575Met)
NM_001303256.3(MORC2):c.1729G>T (p.Ala577Ser) rs756912389
NM_001303256.3(MORC2):c.172C>G (p.Leu58Val) rs760345377
NM_001303256.3(MORC2):c.1737+4C>T rs5997814
NM_001303256.3(MORC2):c.1747C>A (p.Pro583Thr) rs770774096
NM_001303256.3(MORC2):c.1753C>T (p.Arg585Cys) rs548292999
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His) rs137983239
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=) rs778753246
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491
NM_001303256.3(MORC2):c.176G>A (p.Arg59Gln)
NM_001303256.3(MORC2):c.1799G>A (p.Arg600Lys) rs200774292
NM_001303256.3(MORC2):c.1812G>A (p.Glu604=) rs1214680334
NM_001303256.3(MORC2):c.1817C>T (p.Pro606Leu) rs1602482166
NM_001303256.3(MORC2):c.1820T>C (p.Val607Ala) rs1555937777
NM_001303256.3(MORC2):c.1832A>G (p.Gln611Arg)
NM_001303256.3(MORC2):c.1859dup (p.Val621fs) rs1569190645
NM_001303256.3(MORC2):c.187A>T (p.Met63Leu) rs748092969
NM_001303256.3(MORC2):c.1918C>G (p.Gln640Glu) rs1602481898
NM_001303256.3(MORC2):c.1925G>A (p.Arg642Gln)
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=) rs1555937681
NM_001303256.3(MORC2):c.1942A>G (p.Ser648Gly) rs200703581
NM_001303256.3(MORC2):c.1949C>T (p.Thr650Ile) rs371710965
NM_001303256.3(MORC2):c.1956G>C (p.Lys652Asn) rs763542037
NM_001303256.3(MORC2):c.1976G>A (p.Arg659Gln)
NM_001303256.3(MORC2):c.2009C>T (p.Pro670Leu)
NM_001303256.3(MORC2):c.2018C>G (p.Ala673Gly) rs778099643
NM_001303256.3(MORC2):c.2024G>A (p.Arg675Gln) rs563612262
NM_001303256.3(MORC2):c.2038A>G (p.Thr680Ala)
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873
NM_001303256.3(MORC2):c.2060G>A (p.Arg687Gln) rs201772330
NM_001303256.3(MORC2):c.2066C>T (p.Ala689Val) rs560948457
NM_001303256.3(MORC2):c.2092T>C (p.Ser698Pro) rs897158764
NM_001303256.3(MORC2):c.2106C>A (p.Asn702Lys) rs201032497
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.2176C>G (p.Pro726Ala)
NM_001303256.3(MORC2):c.2179A>G (p.Ile727Val) rs1602481313
NM_001303256.3(MORC2):c.2192C>T (p.Pro731Leu) rs760522350
NM_001303256.3(MORC2):c.2203A>G (p.Ser735Gly)
NM_001303256.3(MORC2):c.221A>G (p.Asp74Gly) rs1555942389
NM_001303256.3(MORC2):c.2228C>A (p.Ser743Tyr) rs142840638
NM_001303256.3(MORC2):c.2232T>C (p.Asp744=) rs775654284
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala) rs746418433
NM_001303256.3(MORC2):c.2247_2249GGA[1] (p.Glu751del) rs1247915167
NM_001303256.3(MORC2):c.2267A>C (p.Lys756Thr)
NM_001303256.3(MORC2):c.227-5T>C
NM_001303256.3(MORC2):c.227G>A (p.Ser76Asn) rs762809030
NM_001303256.3(MORC2):c.2281C>T (p.Arg761Trp) rs369384586
NM_001303256.3(MORC2):c.2282G>A (p.Arg761Gln) rs754626172
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2346A>C (p.Glu782Asp) rs751495570
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu) rs551185965
NM_001303256.3(MORC2):c.2379A>T (p.Lys793Asn)
NM_001303256.3(MORC2):c.2380+6C>G rs1555936909
NM_001303256.3(MORC2):c.2381-3C>T rs1309634022
NM_001303256.3(MORC2):c.2381-7T>C rs754758325
NM_001303256.3(MORC2):c.2395G>A (p.Val799Met)
NM_001303256.3(MORC2):c.239G>A (p.Ser80Asn)
NM_001303256.3(MORC2):c.2452G>A (p.Gly818Ser)
NM_001303256.3(MORC2):c.2464G>T (p.Val822Leu)
NM_001303256.3(MORC2):c.2468G>A (p.Arg823Gln)
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.2504C>T (p.Thr835Met)
NM_001303256.3(MORC2):c.2522+3A>G
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=) rs773690053
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) rs1602477856
NM_001303256.3(MORC2):c.2633A>T (p.Gln878Leu)
NM_001303256.3(MORC2):c.2634G>C (p.Gln878His) rs1388475410
NM_001303256.3(MORC2):c.2644G>A (p.Ala882Thr) rs372199572
NM_001303256.3(MORC2):c.2649C>T (p.Val883=) rs189421529
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr) rs372297066
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=) rs565441094
NM_001303256.3(MORC2):c.2677C>T (p.Arg893Cys)
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His) rs202243108
NM_001303256.3(MORC2):c.2698G>T (p.Ala900Ser) rs1555936530
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=) rs141374674
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser) rs1042426757
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 rs368417146
NM_001303256.3(MORC2):c.276T>C (p.Pro92=) rs142640132
NM_001303256.3(MORC2):c.2776A>G (p.Ser926Gly) rs768569356
NM_001303256.3(MORC2):c.2796G>T (p.Lys932Asn)
NM_001303256.3(MORC2):c.2880C>G (p.Asn960Lys)
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787
NM_001303256.3(MORC2):c.2914C>T (p.Arg972Trp) rs1485425350
NM_001303256.3(MORC2):c.2928C>T (p.Ser976=) rs376140991
NM_001303256.3(MORC2):c.2941C>T (p.Arg981Cys)
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) rs745339848
NM_001303256.3(MORC2):c.2974_2979del (p.Glu992_Lys993del)
NM_001303256.3(MORC2):c.2989C>T (p.Leu997=) rs142766430
NM_001303256.3(MORC2):c.3004G>A (p.Val1002Met)
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 rs1388656367
NM_001303256.3(MORC2):c.3030+7C>T rs766942597
NM_001303256.3(MORC2):c.3030+8C>T rs376367685
NM_001303256.3(MORC2):c.3030+9G>C rs200086094
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=) rs149110760
NM_001303256.3(MORC2):c.309G>A (p.Gly103=) rs372357681
NM_001303256.3(MORC2):c.342T>C (p.Asp114=) rs770837363
NM_001303256.3(MORC2):c.347T>C (p.Ile116Thr)
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) rs1602496057
NM_001303256.3(MORC2):c.399G>A (p.Thr133=) rs141171446
NM_001303256.3(MORC2):c.405T>C (p.His135=) rs144582460
NM_001303256.3(MORC2):c.458G>A (p.Arg153Gln)
NM_001303256.3(MORC2):c.470C>G (p.Pro157Arg)
NM_001303256.3(MORC2):c.481A>C (p.Asn161His)
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp) rs186458188
NM_001303256.3(MORC2):c.493T>C (p.Phe165Leu) rs1602491814
NM_001303256.3(MORC2):c.509A>G (p.Glu170Gly)
NM_001303256.3(MORC2):c.518A>C (p.Tyr173Ser)
NM_001303256.3(MORC2):c.536G>A (p.Arg179His) rs541114863
NM_001303256.3(MORC2):c.541G>A (p.Glu181Lys) rs750265510
NM_001303256.3(MORC2):c.566T>C (p.Met189Thr) rs1555940315
NM_001303256.3(MORC2):c.585C>T (p.Ser195=)
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser) rs76273991
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742
NM_001303256.3(MORC2):c.649A>G (p.Ile217Val) rs375266158
NM_001303256.3(MORC2):c.672G>T (p.Gln224His) rs893153652
NM_001303256.3(MORC2):c.683C>T (p.Thr228Met)
NM_001303256.3(MORC2):c.684G>A (p.Thr228=) rs534900451
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.743A>G (p.Tyr248Cys) rs1355363942
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) rs1064796495
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.828G>A (p.Met276Ile)
NM_001303256.3(MORC2):c.839C>T (p.Thr280Met) rs764379949
NM_001303256.3(MORC2):c.848G>A (p.Arg283His)
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.894A>G (p.Val298=) rs562612569
NM_001303256.3(MORC2):c.917C>T (p.Ala306Val)
NM_001303256.3(MORC2):c.927A>G (p.Ala309=) rs1291021388
NM_001303256.3(MORC2):c.940C>T (p.Arg314Trp) rs369654856
NM_001303256.3(MORC2):c.941G>A (p.Arg314Gln)
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.975G>A (p.Thr325=) rs201903402
NM_001303256.3(MORC2):c.976C>T (p.Arg326Trp) rs558057376
NM_001303256.3(MORC2):c.988-10A>G rs370880177
NM_001304481.1(FGD4):c.1488_1490AGA[3] (p.Glu499del) rs1264651352
NM_001304481.1(FGD4):c.2118_2119CA[1] (p.Thr707fs) rs1555223595
NM_001304481.1(FGD4):c.2132_2136AAAAG[2] (p.Lys715fs) rs751035912
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10070A>G (p.Glu3357Gly) rs1458996905
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=) rs772665813
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
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.10213A>G (p.Met3405Val)
NM_001376.5(DYNC1H1):c.10262A>G (p.Asp3421Gly)
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10315G>A (p.Asp3439Asn) rs766521055
NM_001376.5(DYNC1H1):c.10336C>T (p.Arg3446Cys) rs1407151844
NM_001376.5(DYNC1H1):c.1035G>A (p.Leu345=) rs993263559
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=) rs184264124
NM_001376.5(DYNC1H1):c.1043C>T (p.Thr348Met) rs372041146
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.10548C>T (p.Tyr3516=) rs760532492
NM_001376.5(DYNC1H1):c.10613A>G (p.Gln3538Arg)
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) rs1595626695
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) rs148203153
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) rs774439464
NM_001376.5(DYNC1H1):c.10826T>C (p.Ile3609Thr)
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln) rs760957660
NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=) rs1407178236
NM_001376.5(DYNC1H1):c.10887C>G (p.Phe3629Leu)
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) rs761427653
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706
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 rs1595629239
NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=) rs143642514
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val) rs771355909
NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=) rs145320071
NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)
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.11408C>G (p.Pro3803Arg)
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.11520A>G (p.Leu3840=) rs369351359
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.1165A>G (p.Ser389Gly) rs1239478672
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.11697C>T (p.Pro3899=) rs950073137
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.11776G>C (p.Gly3926Arg) rs879254035
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met) rs867293260
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=) rs151307859
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
NM_001376.5(DYNC1H1):c.11823T>G (p.Leu3941=) rs368243780
NM_001376.5(DYNC1H1):c.11855A>G (p.Gln3952Arg) rs1595630600
NM_001376.5(DYNC1H1):c.11857G>A (p.Ala3953Thr)
NM_001376.5(DYNC1H1):c.11862C>T (p.Asp3954=) rs140543419
NM_001376.5(DYNC1H1):c.11863G>A (p.Glu3955Lys) rs767837334
NM_001376.5(DYNC1H1):c.11866-4A>T
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
NM_001376.5(DYNC1H1):c.11892C>T (p.Ser3964=) rs757869882
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn) rs770525695
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=) rs750305144
NM_001376.5(DYNC1H1):c.11941+2T>A rs1595630836
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys) rs370026529
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12089T>C (p.Ile4030Thr)
NM_001376.5(DYNC1H1):c.1208A>G (p.His403Arg) rs1451197374
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) rs1595631704
NM_001376.5(DYNC1H1):c.12112A>C (p.Asn4038His) rs1271427633
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser) rs768853660
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
NM_001376.5(DYNC1H1):c.12146A>T (p.Tyr4049Phe)
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
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.12276-6G>A rs1595631975
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=) rs573819401
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
NM_001376.5(DYNC1H1):c.12422C>T (p.Ala4141Val)
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=) rs757449756
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
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.12453A>T (p.Pro4151=) rs200375220
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile) rs754437318
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile) rs202107738
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
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.12588C>T (p.Tyr4196=) rs749876358
NM_001376.5(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=) rs143936619
NM_001376.5(DYNC1H1):c.12654G>A (p.Thr4218=) rs747207435
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.12663G>T (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.12677C>G (p.Thr4226Arg) rs776972173
NM_001376.5(DYNC1H1):c.12684+2_12684+5dup rs769593920
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) rs1595633349
NM_001376.5(DYNC1H1):c.12756T>G (p.Tyr4252Ter)
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293
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.12864C>T (p.Val4288=) rs1264893844
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu) rs1555412242
NM_001376.5(DYNC1H1):c.12939C>T (p.Pro4313=) rs151172467
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met) rs774296708
NM_001376.5(DYNC1H1):c.12954C>G (p.Pro4318=) rs766459266
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445
NM_001376.5(DYNC1H1):c.13001C>G (p.Thr4334Arg)
NM_001376.5(DYNC1H1):c.13006+4G>A rs1595633618
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.13071C>T (p.Tyr4357=) rs763227557
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.13076A>G (p.Glu4359Gly)
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
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.13203C>T (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.13260C>T (p.Gly4420=) rs777922418
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys) rs770395590
NM_001376.5(DYNC1H1):c.13286A>G (p.Gln4429Arg) rs763724110
NM_001376.5(DYNC1H1):c.13295C>G (p.Ala4432Gly)
NM_001376.5(DYNC1H1):c.13297G>A (p.Asp4433Asn) rs749297332
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) rs142883042
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys) rs140033479
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.13385G>A (p.Arg4462Gln) rs376608392
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
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.13470G>A (p.Gln4490=) rs780553042
NM_001376.5(DYNC1H1):c.13474A>C (p.Ile4492Leu)
NM_001376.5(DYNC1H1):c.13515+3G>A
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13516-10C>A rs1595637656
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13640C>T (p.Thr4547Ile)
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr) rs145366078
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
NM_001376.5(DYNC1H1):c.13683G>A (p.Thr4561=) rs192742245
NM_001376.5(DYNC1H1):c.13684+9A>G rs1475798561
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.13718A>G (p.Asn4573Ser) rs571005578
NM_001376.5(DYNC1H1):c.13719C>G (p.Asn4573Lys) rs886050377
NM_001376.5(DYNC1H1):c.13730T>C (p.Leu4577Pro)
NM_001376.5(DYNC1H1):c.13742T>C (p.Ile4581Thr)
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=) rs746971715
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr) rs544608488
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys) rs765362140
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.13784A>G (p.Gln4595Arg)
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys) rs753454594
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.13801_13802delinsGC (p.Lys4601Ala)
NM_001376.5(DYNC1H1):c.13803G>C (p.Lys4601Asn)
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.13863C>A (p.Thr4621=)
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.13882A>G (p.Thr4628Ala)
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.13912C>T (p.Arg4638Trp) rs200224597
NM_001376.5(DYNC1H1):c.13920C>T (p.Val4640=) rs573332348
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.1461+5G>A
NM_001376.5(DYNC1H1):c.1461+5G>T
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met) rs773725715
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=) rs747710142
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys) rs1298953581
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.150C>G (p.Ala50=) rs372404851
NM_001376.5(DYNC1H1):c.1564G>A (p.Glu522Lys) rs1595600778
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.1588G>A (p.Val530Ile)
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met) rs780247153
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
NM_001376.5(DYNC1H1):c.1695C>T (p.Thr565=) rs748689506
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly)
NM_001376.5(DYNC1H1):c.1774T>C (p.Phe592Leu)
NM_001376.5(DYNC1H1):c.1777G>T (p.Val593Phe)
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=) rs1022735666
NM_001376.5(DYNC1H1):c.1827C>G (p.Ile609Met) rs760971556
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=) rs749887344
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) rs1383117534
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) rs775473086
NM_001376.5(DYNC1H1):c.2002G>A (p.Val668Ile)
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194
NM_001376.5(DYNC1H1):c.2028C>G (p.His676Gln) rs758895614
NM_001376.5(DYNC1H1):c.2028C>T (p.His676=) rs758895614
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.2133C>T (p.Leu711=) rs774360588
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
NM_001376.5(DYNC1H1):c.2147G>A (p.Arg716His) rs759802064
NM_001376.5(DYNC1H1):c.2182C>T (p.Arg728Ter) rs1595601098
NM_001376.5(DYNC1H1):c.2204T>C (p.Leu735Pro) rs1002689170
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2277C>T (p.Arg759=) rs577000800
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile) rs781320162
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2294T>C (p.Val765Ala)
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=) rs375810066
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile) rs766014166
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln) rs371431746
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln) rs768932305
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252
NM_001376.5(DYNC1H1):c.2412G>C (p.Leu804Phe)
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=) rs1595601645
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.265G>A (p.Gly89Ser) rs749973847
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189
NM_001376.5(DYNC1H1):c.2713A>G (p.Met905Val)
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.2768C>T (p.Thr923Met)
NM_001376.5(DYNC1H1):c.2778T>C (p.Leu926=) rs1277515928
NM_001376.5(DYNC1H1):c.2820dup (p.Asp941fs) rs1595602265
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile) rs140141126
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile) rs1332902634
NM_001376.5(DYNC1H1):c.3015+3A>G rs1057522534
NM_001376.5(DYNC1H1):c.3055T>A (p.Tyr1019Asn)
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.3078G>A (p.Met1026Ile)
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.3100G>A (p.Glu1034Lys)
NM_001376.5(DYNC1H1):c.3107C>T (p.Ser1036Leu)
NM_001376.5(DYNC1H1):c.3121A>T (p.Met1041Leu) rs867890249
NM_001376.5(DYNC1H1):c.3125G>A (p.Gly1042Asp)
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=) rs752702437
NM_001376.5(DYNC1H1):c.3210C>T (p.Asn1070=) rs1595605306
NM_001376.5(DYNC1H1):c.3218G>A (p.Gly1073Glu) rs775900761
NM_001376.5(DYNC1H1):c.3222A>C (p.Glu1074Asp)
NM_001376.5(DYNC1H1):c.3287C>T (p.Ala1096Val)
NM_001376.5(DYNC1H1):c.3325T>A (p.Tyr1109Asn)
NM_001376.5(DYNC1H1):c.3334-4T>C rs368422942
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met) rs587780331
NM_001376.5(DYNC1H1):c.3423A>C (p.Glu1141Asp)
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.355A>G (p.Ile119Val) rs953641294
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.369C>T (p.Pro123=) rs372944247
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.3742C>T (p.Arg1248Trp)
NM_001376.5(DYNC1H1):c.3766G>A (p.Asp1256Asn) rs760571415
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3961-3C>T
NM_001376.5(DYNC1H1):c.3980A>G (p.Gln1327Arg) rs763711252
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.4075-6C>T rs377411812
NM_001376.5(DYNC1H1):c.4089G>A (p.Leu1363=)
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=) rs753684857
NM_001376.5(DYNC1H1):c.4133G>A (p.Arg1378Gln)
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) rs776226690
NM_001376.5(DYNC1H1):c.4282G>A (p.Glu1428Lys)
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.4429T>C (p.Leu1477=) rs555992808
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.4627C>T (p.Arg1543Trp)
NM_001376.5(DYNC1H1):c.4651T>C (p.Phe1551Leu) rs762246186
NM_001376.5(DYNC1H1):c.4699C>A (p.Arg1567=) rs377013246
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.4759C>G (p.Leu1587Val)
NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
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.4866G>A (p.Glu1622=) rs376805489
NM_001376.5(DYNC1H1):c.4889A>G (p.Tyr1630Cys)
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5002G>A (p.Glu1668Lys) rs925942859
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser) rs758191823
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.5049+5A>G
NM_001376.5(DYNC1H1):c.5050-3C>T rs372462176
NM_001376.5(DYNC1H1):c.5050G>A (p.Val1684Ile) rs781664182
NM_001376.5(DYNC1H1):c.5053A>G (p.Met1685Val) rs1555409556
NM_001376.5(DYNC1H1):c.5146C>T (p.Leu1716=) rs1595611257
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=) rs369232191
NM_001376.5(DYNC1H1):c.5166G>T (p.Thr1722=) rs369232191
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354
NM_001376.5(DYNC1H1):c.521A>T (p.Asp174Val) rs1595597551
NM_001376.5(DYNC1H1):c.5225T>C (p.Ile1742Thr) rs1555409568
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met) rs199740595
NM_001376.5(DYNC1H1):c.5251G>T (p.Val1751Phe) rs1441272851
NM_001376.5(DYNC1H1):c.5282A>G (p.Asn1761Ser)
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.5294C>T (p.Ala1765Val) rs150687712
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.5317G>A (p.Gly1773Arg)
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) rs1346194464
NM_001376.5(DYNC1H1):c.5433_5433+27dup rs1382359405
NM_001376.5(DYNC1H1):c.5443T>C (p.Leu1815=) rs1445493379
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=) rs762857766
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090
NM_001376.5(DYNC1H1):c.5495del (p.Asn1832fs) rs1555409622
NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
NM_001376.5(DYNC1H1):c.561A>G (p.Ala187=) rs774395446
NM_001376.5(DYNC1H1):c.5655T>A (p.Thr1885=) rs538791873
NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
NM_001376.5(DYNC1H1):c.5660G>A (p.Arg1887His) rs768520247
NM_001376.5(DYNC1H1):c.5698C>T (p.Leu1900=) rs371157224
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.5800G>A (p.Glu1934Lys)
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=) rs142726284
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=) rs751526144
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.5971_5973del (p.Asp1991del)
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.6028C>G (p.Pro2010Ala)
NM_001376.5(DYNC1H1):c.6044T>C (p.Phe2015Ser)
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=) rs138702876
NM_001376.5(DYNC1H1):c.6228C>T (p.Cys2076=) rs201113072
NM_001376.5(DYNC1H1):c.624_625delinsAG (p.Ile209Val) rs1555407906
NM_001376.5(DYNC1H1):c.6264C>T (p.Phe2088=) rs778348555
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=) rs374997831
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497
NM_001376.5(DYNC1H1):c.6353G>A (p.Arg2118Gln) rs1060502207
NM_001376.5(DYNC1H1):c.6355G>C (p.Gly2119Arg) rs1595614266
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6405+4_6405+44del
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) rs1595597624
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.6539A>C (p.Glu2180Ala)
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
NM_001376.5(DYNC1H1):c.668G>A (p.Arg223His) rs561761105
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)
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.6846C>T (p.His2282=) rs770017263
NM_001376.5(DYNC1H1):c.684A>C (p.Lys228Asn)
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.6904G>A (p.Val2302Ile) rs561339487
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=) rs138326082
NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
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.6997C>T (p.Leu2333Phe) rs1131691358
NM_001376.5(DYNC1H1):c.7014+3A>G rs1426193095
NM_001376.5(DYNC1H1):c.7068G>T (p.Val2356=) rs188714917
NM_001376.5(DYNC1H1):c.706G>A (p.Val236Ile) rs376456164
NM_001376.5(DYNC1H1):c.7071G>A (p.Ser2357=) rs375808105
NM_001376.5(DYNC1H1):c.7078G>A (p.Gly2360Ser)
NM_001376.5(DYNC1H1):c.7116C>A (p.Asp2372Glu) rs377242217
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.7161G>A (p.Leu2387=)
NM_001376.5(DYNC1H1):c.7189C>T (p.Arg2397Trp) rs1595616794
NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln) rs751820545
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154
NM_001376.5(DYNC1H1):c.7193G>C (p.Arg2398Pro) rs912429154
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.7225G>A (p.Ala2409Thr)
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.7242+5G>A rs770870431
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.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7318G>A (p.Ala2440Thr)
NM_001376.5(DYNC1H1):c.7349C>T (p.Thr2450Ile) rs1595617173
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) rs1595590120
NM_001376.5(DYNC1H1):c.7400G>A (p.Arg2467His) rs1441059709
NM_001376.5(DYNC1H1):c.7404C>T (p.Asn2468=) rs1221226371
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7419C>T (p.Asn2473=) rs111459275
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403
NM_001376.5(DYNC1H1):c.7437C>T (p.Phe2479=) rs757950114
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) rs780160519
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331
NM_001376.5(DYNC1H1):c.7475G>A (p.Arg2492Gln) rs1292509595
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.7543G>A (p.Gly2515Ser)
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His) rs1567012503
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.7726C>T (p.Arg2576Cys)
NM_001376.5(DYNC1H1):c.7727G>A (p.Arg2576His) rs756288729
NM_001376.5(DYNC1H1):c.7732G>A (p.Glu2578Lys)
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.5(DYNC1H1):c.7829G>A (p.Arg2610Gln) rs1595617746
NM_001376.5(DYNC1H1):c.7849-7T>G
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.7937A>T (p.Asn2646Ile)
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
NM_001376.5(DYNC1H1):c.7951G>A (p.Ala2651Thr)
NM_001376.5(DYNC1H1):c.797C>T (p.Pro266Leu)
NM_001376.5(DYNC1H1):c.8068G>A (p.Gly2690Arg) rs1555410313
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=) rs772002773
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) rs773460120
NM_001376.5(DYNC1H1):c.8257C>T (p.Arg2753Cys)
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8343+5G>A rs369653555
NM_001376.5(DYNC1H1):c.8344-4A>G rs200913985
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.840C>T (p.Asn280=) rs775490854
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=) rs534435923
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp) rs762494017
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.847C>T (p.Arg283Cys)
NM_001376.5(DYNC1H1):c.848G>A (p.Arg283His) rs1595597922
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.8507+3A>G
NM_001376.5(DYNC1H1):c.8519A>G (p.Asp2840Gly)
NM_001376.5(DYNC1H1):c.851C>T (p.Ala284Val) rs774677904
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
NM_001376.5(DYNC1H1):c.8535G>T (p.Trp2845Cys)
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.8556G>A (p.Thr2852=) rs370808839
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.885G>A (p.Pro295=) rs34287672
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.8930G>A (p.Arg2977Gln)
NM_001376.5(DYNC1H1):c.8977A>G (p.Ile2993Val) rs1187943520
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) rs769817685
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.9155A>G (p.Lys3052Arg)
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys) rs773658296
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=) rs752518392
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.9264G>A (p.Arg3088=)
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg) rs1043956265
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=) rs371538443
NM_001376.5(DYNC1H1):c.9335A>G (p.Lys3112Arg)
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=) rs572233805
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) rs747831868
NM_001376.5(DYNC1H1):c.9434A>G (p.Asn3145Ser)
NM_001376.5(DYNC1H1):c.9455A>G (p.Gln3152Arg) rs1053560376
NM_001376.5(DYNC1H1):c.9456G>C (p.Gln3152His)
NM_001376.5(DYNC1H1):c.9495C>T (p.Gly3165=) rs763139389
NM_001376.5(DYNC1H1):c.951C>T (p.Asp317=) rs1306216043
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) rs756550022
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 rs773101138
NM_001376.5(DYNC1H1):c.9642+4C>T
NM_001376.5(DYNC1H1):c.9654G>A (p.Leu3218=) rs1595624407
NM_001376.5(DYNC1H1):c.9691G>T (p.Val3231Leu) rs1567017900
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001376.5(DYNC1H1):c.9780C>T (p.Ile3260=) rs1486174617
NM_001376.5(DYNC1H1):c.9784G>C (p.Glu3262Gln) rs1567018077
NM_001376.5(DYNC1H1):c.9797A>T (p.Lys3266Met)
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr) rs903873576
NM_001376.5(DYNC1H1):c.9883+3A>G
NM_001376.5(DYNC1H1):c.9944C>G (p.Ala3315Gly)
NM_001376.5(DYNC1H1):c.9960G>A (p.Ala3320=) rs746026558
NM_001540.5(HSPB1):c.116C>T (p.Pro39Leu) rs557327165
NM_001540.5(HSPB1):c.127T>C (p.Ser43Pro)
NM_001540.5(HSPB1):c.129G>A (p.Ser43=) rs764071304
NM_001540.5(HSPB1):c.138A>G (p.Leu46=) rs757180608
NM_001540.5(HSPB1):c.139G>A (p.Gly47Ser) rs778311776
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs) rs748762287
NM_001540.5(HSPB1):c.169C>T (p.Pro57Ser)
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.172del (p.Leu58fs)
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.17T>C (p.Val6Ala) rs773864816
NM_001540.5(HSPB1):c.180dup (p.Ala61fs) rs1064796370
NM_001540.5(HSPB1):c.184G>C (p.Ala62Pro)
NM_001540.5(HSPB1):c.190G>A (p.Glu64Lys)
NM_001540.5(HSPB1):c.192G>C (p.Glu64Asp)
NM_001540.5(HSPB1):c.1A>C (p.Met1Leu)
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.233_234delinsTT (p.Ser78Ile)
NM_001540.5(HSPB1):c.236G>A (p.Arg79Gln)
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn) rs1563651975
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.250G>T (p.Gly84Trp)
NM_001540.5(HSPB1):c.251G>A (p.Gly84Glu)
NM_001540.5(HSPB1):c.257C>T (p.Ser86Leu) rs749378020
NM_001540.5(HSPB1):c.264C>G (p.Ile88Met)
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.280C>A (p.Arg94Ser)
NM_001540.5(HSPB1):c.281G>A (p.Arg94His)
NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser) rs761660005
NM_001540.5(HSPB1):c.29T>A (p.Leu10His) rs772216758
NM_001540.5(HSPB1):c.305A>G (p.Asn102Ser)
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.339C>G (p.Thr113=) rs751064405
NM_001540.5(HSPB1):c.340A>C (p.Lys114Gln)
NM_001540.5(HSPB1):c.364+10C>A rs577343607
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364G>A (p.Gly122Ser) rs780988351
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-5del rs759570569
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.379C>A (p.Arg127=)
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.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.398A>G (p.Tyr133Cys) rs1583966042
NM_001540.5(HSPB1):c.3G>A (p.Met1Ile)
NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala) rs766728475
NM_001540.5(HSPB1):c.404C>A (p.Ser135Tyr) rs28939680
NM_001540.5(HSPB1):c.406C>T (p.Arg136Trp) rs28939681
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.425A>G (p.Tyr142Cys)
NM_001540.5(HSPB1):c.428+5G>C
NM_001540.5(HSPB1):c.428C>A (p.Thr143Lys) rs748414486
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.438C>T (p.Pro146=) rs7805625
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
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.501C>T (p.Ala167=) rs529095936
NM_001540.5(HSPB1):c.504C>T (p.Pro168=) rs866382696
NM_001540.5(HSPB1):c.510del (p.Lys171fs)
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.538A>C (p.Thr180Pro)
NM_001540.5(HSPB1):c.539C>G (p.Thr180Ser) rs1422978230
NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile) rs1422978230
NM_001540.5(HSPB1):c.544C>A (p.Pro182Thr)
NM_001540.5(HSPB1):c.544C>G (p.Pro182Ala)
NM_001540.5(HSPB1):c.544C>T (p.Pro182Ser) rs104894020
NM_001540.5(HSPB1):c.551C>T (p.Thr184Ile)
NM_001540.5(HSPB1):c.554T>C (p.Phe185Ser) rs777225392
NM_001540.5(HSPB1):c.565G>A (p.Ala189Thr)
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.598G>A (p.Asp200Asn)
NM_001540.5(HSPB1):c.607_609GCC[1] (p.Ala204del) rs1276065076
NM_001540.5(HSPB1):c.609dup (p.Ala204fs)
NM_001540.5(HSPB1):c.610G>A (p.Ala204Thr) rs367857772
NM_001540.5(HSPB1):c.610G>T (p.Ala204Ser) rs367857772
NM_001540.5(HSPB1):c.615G>T (p.Lys205Asn)
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001540.5(HSPB1):c.89A>C (p.Asp30Ala)
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259
NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475
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) rs759014082
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) rs770912338
NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226
NM_002180.2(IGHMBP2):c.1121T>C (p.Ile374Thr) rs1193634362
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) rs759641927
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.1236-10C>T rs778515935
NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295
NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954
NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541
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) rs1594451196
NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631
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) rs1464006744
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.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973
NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750
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) rs755120725
NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725
NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
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) rs1170552394
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915
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) rs556292818
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
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) rs373828321
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.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val) rs772592429
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.163C>T (p.Gln55Ter) rs1479493690
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.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914
NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269
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) rs143766075
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
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) rs1057518943
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) rs776775995
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359
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.1845T>A (p.Arg615=) rs370850999
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) rs1594455594
NM_002180.2(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472
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) rs755082503
NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886
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) rs371157210
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=) rs372382180
NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.2(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.2(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444
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=) rs773046519
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) rs1594456265
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.2295C>T (p.His765=) rs149185954
NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345
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.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) rs1438075631
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.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836
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.2545G>A (p.Ala849Thr) rs2228208
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) rs1300949116
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) rs1594417834
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
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) rs772539742
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722
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) rs772387164
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477
NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364
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) rs200897747
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.2818G>A (p.Ala940Thr) rs757839224
NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947
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.2844G>A (p.Gly948=) rs147918962
NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650
NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229
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.2883G>A (p.Leu961=) rs3750977
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) rs1440519538
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) rs767244307
NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953
NM_002180.2(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428
NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914
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) rs1566425176
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) rs771853806
NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.714T>C (p.Val238=) rs755582766
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.736A>G (p.Ile246Val) rs377678376
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) rs777575504
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797
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) rs892885630
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) rs147409148
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) rs768803582
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) rs747287368
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser)
NM_002180.3(IGHMBP2):c.1130G>A (p.Cys377Tyr)
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=) rs201485072
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser)
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) rs756733490
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
NM_002180.3(IGHMBP2):c.1236-1G>T
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu)
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met)
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His)
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His)
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn)
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg)
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg)
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala)
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr)
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe)
NM_002180.3(IGHMBP2):c.1598G>A (p.Arg533His)
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) rs746241618
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu)
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile)
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val)
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
NM_002180.3(IGHMBP2):c.1756+5G>A
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala)
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser)
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln)
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr)
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser)
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln)
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val)
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys)
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met)
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln)
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val)
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys)
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn)
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser)
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro)
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser)
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
NM_002180.3(IGHMBP2):c.2611+1G>A
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala)
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile)
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys)
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro)
NM_002180.3(IGHMBP2):c.2785-3C>G
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr)
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp)
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser)
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser)
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg)
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val)
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr)
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met)
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala)
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met)
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr)
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met)
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp)
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly)
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg)
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe)
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His)
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn)
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser)
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys)
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly) rs763921769
NM_003680.3(YARS1):c.1014C>G (p.Ser338Arg)
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1042+3A>C rs772446297
NM_003680.3(YARS1):c.1048A>G (p.Met350Val) rs1553122785
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr) rs1490757097
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln) rs562054969
NM_003680.3(YARS1):c.1080A>G (p.Pro360=) rs752514117
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1094del (p.Pro365fs) rs1413975578
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp) rs376054085
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln) rs762473756
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg) rs764584188
NM_003680.3(YARS1):c.112del (p.Ile38fs)
NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln) rs1405248711
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr) rs749411607
NM_003680.3(YARS1):c.1179C>T (p.Asp393=) rs373909518
NM_003680.3(YARS1):c.1180G>A (p.Val394Met) rs863224717
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp) rs1179946635
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.1227C>A (p.Phe409Leu)
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu) rs1569778143
NM_003680.3(YARS1):c.1246C>A (p.Gln416Lys) rs76611863
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1281dup (p.Pro428fs)
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys) rs141955005
NM_003680.3(YARS1):c.1349G>A (p.Arg450His)
NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro) rs147005844
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer) rs777156625
NM_003680.3(YARS1):c.1418A>G (p.Glu473Gly)
NM_003680.3(YARS1):c.1435G>A (p.Glu479Lys)
NM_003680.3(YARS1):c.1476+2T>C rs1553122620
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu) rs200375230
NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr)
NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg) rs768160751
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr) rs778099655
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser) rs778099655
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter) rs1553122276
NM_003680.3(YARS1):c.1531A>G (p.Met511Val) rs1569696187
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val) rs371220818
NM_003680.3(YARS1):c.1570G>C (p.Gly524Arg)
NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala) rs201687117
NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu)
NM_003680.3(YARS1):c.166A>G (p.Met56Val)
NM_003680.3(YARS1):c.176T>C (p.Ile59Thr) rs774466323
NM_003680.3(YARS1):c.177T>G (p.Ile59Met)
NM_003680.3(YARS1):c.178G>A (p.Ala60Thr) rs367649729
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn) rs776582429
NM_003680.3(YARS1):c.205-2A>G rs538137948
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg) rs771657997
NM_003680.3(YARS1):c.209C>T (p.Thr70Ile)
NM_003680.3(YARS1):c.211A>G (p.Ile71Val) rs145768628
NM_003680.3(YARS1):c.221C>T (p.Ala74Val) rs1429267110
NM_003680.3(YARS1):c.232G>A (p.Ala78Thr)
NM_003680.3(YARS1):c.260G>A (p.Trp87Ter) rs776952611
NM_003680.3(YARS1):c.277C>T (p.Arg93Ter)
NM_003680.3(YARS1):c.294G>C (p.Glu98Asp)
NM_003680.3(YARS1):c.322A>G (p.Ile108Val)
NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
NM_003680.3(YARS1):c.362C>G (p.Thr121Ser)
NM_003680.3(YARS1):c.380+4A>G
NM_003680.3(YARS1):c.381-6C>T rs376982377
NM_003680.3(YARS1):c.40A>T (p.Ile14Phe)
NM_003680.3(YARS1):c.41T>C (p.Ile14Thr) rs1553127237
NM_003680.3(YARS1):c.424C>A (p.Gln142Lys)
NM_003680.3(YARS1):c.425A>G (p.Gln142Arg)
NM_003680.3(YARS1):c.440A>C (p.Lys147Thr) rs769290451
NM_003680.3(YARS1):c.471G>A (p.Glu157=) rs1569769936
NM_003680.3(YARS1):c.483G>C (p.Leu161=) rs780528629
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr) rs1279417718
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg) rs1473184666
NM_003680.3(YARS1):c.507G>A (p.Leu169=) rs200278380
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003680.3(YARS1):c.511-10C>T rs376935793
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter) rs1553124472
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp) rs1191925938
NM_003680.3(YARS1):c.546A>G (p.Gln182=) rs751440666
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr) rs766166915
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg) rs750198437
NM_003680.3(YARS1):c.586G>A (p.Glu196Lys) rs121908834
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_003680.3(YARS1):c.619C>T (p.Arg207Trp)
NM_003680.3(YARS1):c.631A>T (p.Met211Leu)
NM_003680.3(YARS1):c.681A>G (p.Glu227=) rs370095798
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser) rs1553123310
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala) rs1553123307
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys) rs1009349245
NM_003680.3(YARS1):c.763G>A (p.Val255Met)
NM_003680.3(YARS1):c.795G>C (p.Lys265Asn) rs141482636
NM_003680.3(YARS1):c.799G>C (p.Val267Leu)
NM_003680.3(YARS1):c.819C>T (p.Ser273=)
NM_003680.3(YARS1):c.821-3T>C rs757673905
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp) rs753211165
NM_003680.3(YARS1):c.877G>A (p.Val293Met)
NM_003680.3(YARS1):c.880G>A (p.Asp294Asn) rs779432834
NM_003680.3(YARS1):c.899C>T (p.Ala300Val)
NM_003680.3(YARS1):c.937G>A (p.Val313Ile)
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151
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.385C>T (p.Leu129Phe) rs121909078
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.495G>A (p.Ala165=) rs146566121
NM_004637.5(RAB7A):c.551A>G (p.Asn184Ser) rs752824265
NM_004637.5(RAB7A):c.552C>T (p.Asn184=) rs143140848
NM_004637.5(RAB7A):c.568A>G (p.Ile190Val) rs147480945
NM_004637.5(RAB7A):c.577G>A (p.Asp193Asn) rs756968558
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
NM_004637.6(RAB7A):c.180+7A>G rs1235702497
NM_004637.6(RAB7A):c.181-3C>T
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg)
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr)
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)
NM_004637.6(RAB7A):c.603G>A (p.Ser201=) rs61748098
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser) rs121909093
NM_004945.3(DNM2):c.162-6del rs766449694
NM_004945.3(DNM2):c.1652_1659+1del rs1568314339
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del) rs1324559612
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del) rs1599643472
NM_004990.4(MARS1):c.1033C>T (p.Arg345Cys)
NM_004990.4(MARS1):c.1091+2dup rs754216322
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.110-10C>T rs113549256
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466
NM_004990.4(MARS1):c.1181G>A (p.Arg394His) rs769544594
NM_004990.4(MARS1):c.1261T>C (p.Cys421Arg) rs751129809
NM_004990.4(MARS1):c.1278T>G (p.Asn426Lys) rs767132960
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) rs780028144
NM_004990.4(MARS1):c.1360C>T (p.Leu454=) rs139002397
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.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1535A>G (p.Asp512Gly)
NM_004990.4(MARS1):c.1636-9T>C rs373186969
NM_004990.4(MARS1):c.163A>G (p.Ser55Gly)
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.1732G>A (p.Val578Ile)
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1754-1G>C rs1594833474
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) rs139600659
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220
NM_004990.4(MARS1):c.1967+3A>G
NM_004990.4(MARS1):c.1968-8C>T rs1209991469
NM_004990.4(MARS1):c.1970C>G (p.Ala657Gly) rs1594835469
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.2138G>A (p.Arg713Gln)
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2170C>T (p.Pro724Ser) rs770756933
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2204+10C>T rs376636502
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) rs1594836361
NM_004990.4(MARS1):c.228G>T (p.Glu76Asp) rs369313141
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) rs758051760
NM_004990.4(MARS1):c.2470A>C (p.Thr824Pro) rs200404964
NM_004990.4(MARS1):c.2472G>A (p.Thr824=) rs1594838097
NM_004990.4(MARS1):c.2477C>T (p.Pro826Leu) rs138343927
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile) rs199773459
NM_004990.4(MARS1):c.2531C>T (p.Ala844Val) rs773914259
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.2556+1G>A
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) rs1027516483
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
NM_004990.4(MARS1):c.331G>C (p.Glu111Gln)
NM_004990.4(MARS1):c.353G>A (p.Arg118Gln) rs141397530
NM_004990.4(MARS1):c.365C>A (p.Thr122Asn) rs201007223
NM_004990.4(MARS1):c.38T>C (p.Leu13Ser)
NM_004990.4(MARS1):c.415-5C>A rs747351446
NM_004990.4(MARS1):c.415-5C>G
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.496C>T (p.Leu166=) rs760702485
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.626G>A (p.Ser209Asn) rs141671963
NM_004990.4(MARS1):c.630C>T (p.Pro210=) rs143741525
NM_004990.4(MARS1):c.652A>G (p.Asn218Asp)
NM_004990.4(MARS1):c.659del (p.Pro220fs)
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.680C>T (p.Thr227Ile) rs73344082
NM_004990.4(MARS1):c.692A>T (p.Glu231Val)
NM_004990.4(MARS1):c.699T>G (p.Ile233Met) rs201597392
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070
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.801C>T (p.Leu267=) rs151260441
NM_004990.4(MARS1):c.823G>A (p.Val275Ile) rs1017657436
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.853A>T (p.Ile285Phe) rs776026574
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_004990.4(MARS1):c.97del (p.Thr32_Val33insTer)
NM_004990.4(MARS1):c.986C>A (p.Pro329His)
NM_005340.7(HINT1):c.110G>A (p.Arg37Gln)
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) rs149782619
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222
NM_005340.7(HINT1):c.117T>A (p.Leu39=)
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.136C>T (p.Pro46Ser)
NM_005340.7(HINT1):c.137C>A (p.Pro46His)
NM_005340.7(HINT1):c.142G>A (p.Ala48Thr)
NM_005340.7(HINT1):c.148A>C (p.Thr50Pro)
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn)
NM_005340.7(HINT1):c.198A>G (p.Ala66=) rs150581567
NM_005340.7(HINT1):c.203A>T (p.Asp68Val) rs371048016
NM_005340.7(HINT1):c.216T>A (p.Ser72Arg)
NM_005340.7(HINT1):c.217-3C>T rs1351028496
NM_005340.7(HINT1):c.237T>A (p.Ile79=) rs778878755
NM_005340.7(HINT1):c.242G>T (p.Gly81Val) rs1580682534
NM_005340.7(HINT1):c.243C>T (p.Gly81=) rs1426690264
NM_005340.7(HINT1):c.245A>T (p.Lys82Met)
NM_005340.7(HINT1):c.277G>T (p.Gly93Cys) rs755979803
NM_005340.7(HINT1):c.292G>A (p.Val98Met)
NM_005340.7(HINT1):c.2T>C (p.Met1Thr) rs1580686455
NM_005340.7(HINT1):c.316C>T (p.Gln106Ter) rs1028404937
NM_005340.7(HINT1):c.329_330dup (p.Val111fs) rs1561535921
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_005340.7(HINT1):c.331G>A (p.Val111Ile)
NM_005340.7(HINT1):c.365A>T (p.His122Leu) rs780156681
NM_005340.7(HINT1):c.59G>A (p.Gly20Glu)
NM_005340.7(HINT1):c.71G>T (p.Arg24Leu)
NM_005340.7(HINT1):c.81A>G (p.Ile27Met) rs1561538396
NM_005391.4(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.4(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) rs543542721
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436
NM_006070.6(TFG):c.1087T>G (p.Phe363Val)
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441
NM_006070.6(TFG):c.1116C>T (p.Thr372=) rs1576389880
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu)
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005
NM_006070.6(TFG):c.1146G>A (p.Ala382=) rs761808737
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys)
NM_006070.6(TFG):c.1154G>A (p.Arg385His)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg) rs1576390105
NM_006070.6(TFG):c.1172G>T (p.Gly391Val)
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln) rs963151000
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro)
NM_006070.6(TFG):c.185-10T>A rs79631225
NM_006070.6(TFG):c.185-9A>T rs778438842
NM_006070.6(TFG):c.196A>G (p.Ile66Val)
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.256C>G (p.Leu86Val)
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449
NM_006070.6(TFG):c.268G>A (p.Val90Ile)
NM_006070.6(TFG):c.286C>T (p.Pro96Ser)
NM_006070.6(TFG):c.290T>A (p.Leu97His) rs1576366321
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900
NM_006070.6(TFG):c.310T>C (p.Tyr104His) rs775608477
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr)
NM_006070.6(TFG):c.409G>C (p.Glu137Gln)
NM_006070.6(TFG):c.415+7C>G rs149927288
NM_006070.6(TFG):c.416-9T>C rs115896544
NM_006070.6(TFG):c.457T>G (p.Ser153Ala) rs140466338
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552
NM_006070.6(TFG):c.464A>G (p.Lys155Arg)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg)
NM_006070.6(TFG):c.482T>C (p.Met161Thr) rs766899074
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.484G>A (p.Ala162Thr)
NM_006070.6(TFG):c.544A>C (p.Met182Leu)
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279
NM_006070.6(TFG):c.567T>A (p.Asp189Glu)
NM_006070.6(TFG):c.57G>A (p.Glu19=) rs1576353054
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562
NM_006070.6(TFG):c.608G>A (p.Arg203His)
NM_006070.6(TFG):c.621C>T (p.Pro207=) rs141786985
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729
NM_006070.6(TFG):c.663C>T (p.Gly221=) rs140669729
NM_006070.6(TFG):c.664G>A (p.Val222Ile)
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090
NM_006070.6(TFG):c.716T>C (p.Ile239Thr) rs146004809
NM_006070.6(TFG):c.722-8G>T rs41272979
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.741C>T (p.Tyr247=) rs1576379547
NM_006070.6(TFG):c.743A>G (p.Gln248Arg) rs1576379554
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697
NM_006070.6(TFG):c.771G>A (p.Gln257=) rs374006808
NM_006070.6(TFG):c.774G>A (p.Pro258=) rs1367793822
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006070.6(TFG):c.870A>G (p.Gly290=)
NM_006070.6(TFG):c.882A>C (p.Gln294His) rs751393611
NM_006070.6(TFG):c.898C>A (p.Pro300Thr)
NM_006070.6(TFG):c.898C>T (p.Pro300Ser) rs1210008384
NM_006070.6(TFG):c.908C>T (p.Ala303Val) rs1576389064
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338
NM_006070.6(TFG):c.976G>T (p.Ala326Ser)
NM_006070.6(TFG):c.97T>C (p.Tyr33His)
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys) rs763523148
NM_006096.3(NDRG1):c.1022G>A (p.Arg341His) rs1392179290
NM_006096.3(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168
NM_006096.3(NDRG1):c.1028G>A (p.Arg343His) rs144714216
NM_006096.3(NDRG1):c.1032_1091del (p.340_349TRSRSHTSEG[1]) rs1554747479
NM_006096.3(NDRG1):c.1042G>C (p.Glu348Gln) rs775650624
NM_006096.3(NDRG1):c.1046G>A (p.Gly349Asp) rs1209851405
NM_006096.3(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411
NM_006096.3(NDRG1):c.1053_1082del (p.340_349TRSRSHTSEG[2]) rs751274009
NM_006096.3(NDRG1):c.106G>T (p.Asp36Tyr) rs745832151
NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) rs1554747463
NM_006096.3(NDRG1):c.1085G>A (p.Ser362Asn) rs749124058
NM_006096.3(NDRG1):c.1086C>T (p.Ser362=) rs1189614460
NM_006096.3(NDRG1):c.1088G>A (p.Arg363His) rs181121989
NM_006096.3(NDRG1):c.1091C>T (p.Ser364Leu) rs767058269
NM_006096.3(NDRG1):c.1101C>T (p.Ser367=) rs201959970
NM_006096.3(NDRG1):c.1109C>G (p.Ala370Gly) rs367925853
NM_006096.3(NDRG1):c.1109C>T (p.Ala370Val) rs367925853
NM_006096.3(NDRG1):c.1112_1114delinsTTT (p.His371Leu) rs1554747447
NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) rs750369546
NM_006096.3(NDRG1):c.1152C>T (p.Ser384=) rs863224413
NM_006096.3(NDRG1):c.1153G>A (p.Ala385Thr) rs1276408714
NM_006096.3(NDRG1):c.1155C>T (p.Ala385=) rs774605205
NM_006096.3(NDRG1):c.122A>G (p.His41Arg) rs2233318
NM_006096.3(NDRG1):c.129T>C (p.Ser43=) rs758024351
NM_006096.3(NDRG1):c.158A>G (p.Lys53Arg) rs140634799
NM_006096.3(NDRG1):c.166C>T (p.Arg56Trp) rs769720211
NM_006096.3(NDRG1):c.167G>A (p.Arg56Gln) rs151322132
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.205+1G>A rs1060503092
NM_006096.3(NDRG1):c.205C>T (p.His69Tyr) rs373590447
NM_006096.3(NDRG1):c.212C>A (p.Thr71Asn) rs1554591949
NM_006096.3(NDRG1):c.251A>G (p.Glu84Gly) rs1372913345
NM_006096.3(NDRG1):c.303C>T (p.Asp101=) rs765528167
NM_006096.3(NDRG1):c.304G>A (p.Gly102Ser) rs200433822
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.307G>A (p.Ala103Thr) rs374160497
NM_006096.3(NDRG1):c.307G>T (p.Ala103Ser) rs374160497
NM_006096.3(NDRG1):c.311C>A (p.Ala104Asp) rs1346600957
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.326+1G>A rs1586446057
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.345G>T (p.Met115Ile) rs1345503929
NM_006096.3(NDRG1):c.373G>A (p.Val125Ile) rs200593999
NM_006096.3(NDRG1):c.389+8C>T rs375532877
NM_006096.3(NDRG1):c.393G>A (p.Leu131=) rs149767690
NM_006096.3(NDRG1):c.416C>G (p.Thr139Arg) rs863224745
NM_006096.3(NDRG1):c.426C>T (p.Gly142=) rs370604799
NM_006096.3(NDRG1):c.431A>G (p.Tyr144Cys) rs139220402
NM_006096.3(NDRG1):c.4T>C (p.Ser2Pro) rs781381539
NM_006096.3(NDRG1):c.506C>T (p.Ala169Val) rs963190299
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.3(NDRG1):c.523T>C (p.Trp175Arg) rs1586434783
NM_006096.3(NDRG1):c.528C>G (p.Ala176=) rs191237702
NM_006096.3(NDRG1):c.563C>T (p.Pro188Leu) rs779194865
NM_006096.3(NDRG1):c.571G>A (p.Val191Met) rs749716207
NM_006096.3(NDRG1):c.582C>G (p.His194Gln) rs1305919985
NM_006096.3(NDRG1):c.594+8G>T rs767524421
NM_006096.3(NDRG1):c.595-6A>G rs1554749794
NM_006096.3(NDRG1):c.613G>A (p.Val205Met) rs138839833
NM_006096.3(NDRG1):c.63+6T>C rs199597649
NM_006096.3(NDRG1):c.656T>A (p.Met219Lys) rs147184316
NM_006096.3(NDRG1):c.660C>A (p.Asn220Lys) rs143549909
NM_006096.3(NDRG1):c.663C>T (p.Pro221=) rs377225752
NM_006096.3(NDRG1):c.686A>G (p.Asn229Ser) rs137993172
NM_006096.3(NDRG1):c.69C>A (p.Ile23=) rs369862936
NM_006096.3(NDRG1):c.703C>T (p.Arg235Cys) rs772268356
NM_006096.3(NDRG1):c.704G>A (p.Arg235His) rs748331213
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.755+9C>T rs756756059
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.776T>C (p.Val259Ala) rs201759485
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.800A>G (p.Asp267Gly) rs1287073036
NM_006096.3(NDRG1):c.813G>A (p.Glu271=) rs368468160
NM_006096.3(NDRG1):c.861G>A (p.Ala287=) rs150101908
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.891+5G>A rs150968034
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.3(NDRG1):c.892-9C>G rs987790520
NM_006096.3(NDRG1):c.893C>T (p.Pro298Leu) rs753836263
NM_006096.3(NDRG1):c.894G>A (p.Pro298=) rs368061370
NM_006096.3(NDRG1):c.904G>A (p.Ala302Thr) rs373637595
NM_006096.3(NDRG1):c.93T>C (p.Asp31=) rs773317729
NM_006096.3(NDRG1):c.950C>T (p.Ser317Leu) rs904186690
NM_006096.3(NDRG1):c.956G>A (p.Ser319Asn) rs1564277421
NM_006096.3(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006096.3(NDRG1):c.973C>A (p.Arg325=) rs141078746
NM_006096.3(NDRG1):c.973C>T (p.Arg325Trp) rs141078746
NM_006096.3(NDRG1):c.980G>A (p.Arg327His) rs565705964
NM_006096.4(NDRG1):c.100-3C>T
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln)
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
NM_006096.4(NDRG1):c.1062_1091dup (p.340_349TRSRSHTSEG[4])
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=) rs578199680
NM_006096.4(NDRG1):c.109A>T (p.Ile37Phe)
NM_006096.4(NDRG1):c.10G>A (p.Glu4Lys)
NM_006096.4(NDRG1):c.1156G>A (p.Gly386Arg)
NM_006096.4(NDRG1):c.1178_1180del (p.Ser393del)
NM_006096.4(NDRG1):c.135C>T (p.His45=) rs146924327
NM_006096.4(NDRG1):c.140C>T (p.Thr47Met)
NM_006096.4(NDRG1):c.165C>T (p.Asn55=) rs368056707
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr)
NM_006096.4(NDRG1):c.185A>G (p.Tyr62Cys)
NM_006096.4(NDRG1):c.195C>T (p.Ile65=) rs747826464
NM_006096.4(NDRG1):c.201G>A (p.Met67Ile)
NM_006096.4(NDRG1):c.217T>C (p.Tyr73His)
NM_006096.4(NDRG1):c.285C>T (p.Asp95=) rs777855380
NM_006096.4(NDRG1):c.306C>A (p.Gly102=) rs2233322
NM_006096.4(NDRG1):c.30C>T (p.Leu10=) rs758205425
NM_006096.4(NDRG1):c.319C>T (p.Pro107Ser)
NM_006096.4(NDRG1):c.321C>T (p.Pro107=) rs1403681249
NM_006096.4(NDRG1):c.337C>T (p.Pro113Ser)
NM_006096.4(NDRG1):c.355G>C (p.Ala119Pro)
NM_006096.4(NDRG1):c.400A>G (p.Ile134Val)
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val) rs202118022
NM_006096.4(NDRG1):c.438A>C (p.Leu146=) rs772535207
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser) rs150796527
NM_006096.4(NDRG1):c.450+2_450+3del
NM_006096.4(NDRG1):c.453A>G (p.Leu151=) rs776744445
NM_006096.4(NDRG1):c.456C>G (p.Asn152Lys)
NM_006096.4(NDRG1):c.47T>C (p.Leu16Ser)
NM_006096.4(NDRG1):c.488T>C (p.Ile163Thr)
NM_006096.4(NDRG1):c.50T>A (p.Val17Glu)
NM_006096.4(NDRG1):c.528C>T (p.Ala176=) rs191237702
NM_006096.4(NDRG1):c.594+10G>A rs751843731
NM_006096.4(NDRG1):c.594+9C>T rs373172944
NM_006096.4(NDRG1):c.595-2A>T
NM_006096.4(NDRG1):c.604C>T (p.Gln202Ter)
NM_006096.4(NDRG1):c.634C>T (p.Arg212Cys)
NM_006096.4(NDRG1):c.643A>G (p.Ile215Val)
NM_006096.4(NDRG1):c.698+9A>G rs754728870
NM_006096.4(NDRG1):c.699-3C>T
NM_006096.4(NDRG1):c.701G>A (p.Arg234Gln)
NM_006096.4(NDRG1):c.702G>A (p.Arg234=) rs547082017
NM_006096.4(NDRG1):c.722G>A (p.Arg241Gln)
NM_006096.4(NDRG1):c.730C>T (p.Pro244Ser)
NM_006096.4(NDRG1):c.73G>T (p.Gly25Cys)
NM_006096.4(NDRG1):c.742A>G (p.Thr248Ala)
NM_006096.4(NDRG1):c.758G>A (p.Cys253Tyr)
NM_006096.4(NDRG1):c.794C>T (p.Ala265Val)
NM_006096.4(NDRG1):c.7C>T (p.Arg3Trp)
NM_006096.4(NDRG1):c.802G>T (p.Ala268Ser)
NM_006096.4(NDRG1):c.805G>A (p.Val269Met)
NM_006096.4(NDRG1):c.855+8G>A rs776826543
NM_006096.4(NDRG1):c.856-5C>T rs767437478
NM_006096.4(NDRG1):c.891+2T>C
NM_006096.4(NDRG1):c.899A>G (p.Lys300Arg)
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
NM_006096.4(NDRG1):c.965G>T (p.Arg322Leu)
NM_006096.4(NDRG1):c.975G>A (p.Arg325=) rs375099070
NM_006096.4(NDRG1):c.987C>T (p.Ala329=) rs778770054
NM_006096.4(NDRG1):c.999C>T (p.Ser333=) rs201505193
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1011G>A (p.Glu337=) rs761206907
NM_006158.4(NEFL):c.1016A>C (p.Lys339Thr) rs1586127945
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) rs35596950
NM_006158.4(NEFL):c.1032C>G (p.Ile344Met) rs1586127924
NM_006158.4(NEFL):c.1044+5G>C rs779620367
NM_006158.4(NEFL):c.1044G>A (p.Gln348=) rs1234285997
NM_006158.4(NEFL):c.1069G>A (p.Glu357Lys) rs1060503693
NM_006158.4(NEFL):c.1080C>T (p.Thr360=) rs760765563
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) rs372997416
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1213G>A (p.Val405Met) rs558941336
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.1292C>G (p.Ser431Cys) rs559215942
NM_006158.4(NEFL):c.1302G>A (p.Met434Ile) rs922905627
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu) rs587777882
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.1429G>A (p.Glu477Lys) rs749163947
NM_006158.4(NEFL):c.1438_1440delinsAGA (p.Glu480Arg) rs1586126391
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1461G>A (p.Glu487=) rs763418924
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) rs749256770
NM_006158.4(NEFL):c.1534G>T (p.Gly512Cys) rs267601870
NM_006158.4(NEFL):c.1540G>C (p.Gly514Arg) rs1586126037
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
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>A (p.Pro8Thr) rs886043551
NM_006158.4(NEFL):c.22C>T (p.Pro8Ser) rs886043551
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.4(NEFL):c.23C>T (p.Pro8Leu) rs61491953
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) rs587777888
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.294T>G (p.Asn98Lys) rs1057517776
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) rs868126991
NM_006158.4(NEFL):c.418G>A (p.Glu140Lys) rs121913663
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.443T>A (p.Leu148Gln) rs1338365987
NM_006158.4(NEFL):c.490C>G (p.Arg164Gly) rs752771636
NM_006158.4(NEFL):c.530G>T (p.Arg177Leu) rs1450236716
NM_006158.4(NEFL):c.532T>A (p.Tyr178Asn) rs550216338
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) rs779821785
NM_006158.4(NEFL):c.593G>C (p.Gly198Ala) rs1554497605
NM_006158.4(NEFL):c.598G>C (p.Asp200His) rs1312229375
NM_006158.4(NEFL):c.608C>T (p.Ala203Val) rs753319598
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.637A>G (p.Ile213Val) rs538481538
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) rs1586128391
NM_006158.4(NEFL):c.67C>G (p.Arg23Gly) rs772092001
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) rs927119938
NM_006158.4(NEFL):c.755C>T (p.Pro252Leu) rs373569840
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) rs749160052
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) rs1586127947
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) rs59443585
NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)
NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)
NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)
NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)
NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)
NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)
NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)
NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=)
NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)
NM_006158.5(NEFL):c.1489+6A>T
NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)
NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)
NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)
NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)
NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)
NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)
NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)
NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)
NM_006158.5(NEFL):c.30C>T (p.Tyr10=) rs1484620251
NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)
NM_006158.5(NEFL):c.360C>T (p.Ala120=) rs368829273
NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)
NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)
NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)
NM_006158.5(NEFL):c.614C>T (p.Ala205Val)
NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)
NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)
NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)
NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)
NM_014365.2(HSPB8):c.116C>T (p.Pro39Leu) rs771827550
NM_014365.2(HSPB8):c.14A>G (p.Gln5Arg) rs146900850
NM_014365.2(HSPB8):c.164G>A (p.Arg55His) rs752911264
NM_014365.2(HSPB8):c.194G>A (p.Arg65Lys) rs1265247622
NM_014365.2(HSPB8):c.200G>T (p.Gly67Val) rs771852827
NM_014365.2(HSPB8):c.201C>T (p.Gly67=) rs1565927038
NM_014365.2(HSPB8):c.208C>T (p.Pro70Ser) rs924785682
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) rs757293016
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) rs35909818
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) rs104894351
NM_014365.2(HSPB8):c.421A>G (p.Lys141Glu) rs104894351
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) rs144662422
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.502G>A (p.Ala168Thr) rs1592932884
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) rs1000728639
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) rs760688825
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.570C>A (p.Ser190Arg) rs551013013
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) rs778223243
NM_014365.2(HSPB8):c.65G>A (p.Arg22Gln) rs747381453
NM_014365.2(HSPB8):c.9C>G (p.Asp3Glu) rs952834680
NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser)
NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu)
NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn)
NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp)
NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) rs1183371665
NM_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542
NM_014365.3(HSPB8):c.174C>A (p.Ser58=)
NM_014365.3(HSPB8):c.184_185del (p.Gly62fs)
NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp)
NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr)
NM_014365.3(HSPB8):c.241G>A (p.Val81Met)
NM_014365.3(HSPB8):c.266dup (p.Pro90fs) rs773017653
NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys)
NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn)
NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer)
NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys)
NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg)
NM_014365.3(HSPB8):c.515del (p.Pro172fs)
NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala)
NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe)
NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser)
NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys)
NM_014845.5(FIG4):c.101C>T (p.Thr34Met) rs375691683
NM_014845.5(FIG4):c.102G>A (p.Thr34=) rs145711919
NM_014845.5(FIG4):c.1040-4T>C rs374343214
NM_014845.5(FIG4):c.1064A>G (p.His355Arg) rs772356514
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.109C>T (p.Arg37Cys) rs368625871
NM_014845.5(FIG4):c.110G>A (p.Arg37His) rs192324110
NM_014845.5(FIG4):c.1187C>G (p.Ala396Gly) rs758599286
NM_014845.5(FIG4):c.1187C>T (p.Ala396Val) rs758599286
NM_014845.5(FIG4):c.1199A>G (p.Tyr400Cys) rs755232396
NM_014845.5(FIG4):c.1205del (p.Asn402fs) rs1554303800
NM_014845.5(FIG4):c.120G>T (p.Lys40Asn) rs1346518731
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
NM_014845.5(FIG4):c.1271+5A>G rs374583399
NM_014845.5(FIG4):c.1272-10C>G rs201293291
NM_014845.5(FIG4):c.1305G>C (p.Val435=) rs145227623
NM_014845.5(FIG4):c.1313A>G (p.Glu438Gly) rs535554973
NM_014845.5(FIG4):c.1338C>G (p.Phe446Leu) rs1353768172
NM_014845.5(FIG4):c.1348C>T (p.Arg450Cys) rs201072058
NM_014845.5(FIG4):c.1363T>G (p.Cys455Gly) rs1012991465
NM_014845.5(FIG4):c.1373dup (p.Leu458fs) rs770043095
NM_014845.5(FIG4):c.1375C>T (p.Arg459Trp) rs1220742669
NM_014845.5(FIG4):c.137C>G (p.Pro46Arg) rs1562642404
NM_014845.5(FIG4):c.1405G>A (p.Gly469Arg) rs201742496
NM_014845.5(FIG4):c.1427G>A (p.Arg476His) rs192823053
NM_014845.5(FIG4):c.1435-8C>T rs754607430
NM_014845.5(FIG4):c.14C>T (p.Ala5Val) rs915749340
NM_014845.5(FIG4):c.1544T>C (p.Ile515Thr) rs370249754
NM_014845.5(FIG4):c.155T>C (p.Ile52Thr) rs754533235
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.1666dup (p.Thr556fs) rs772320287
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.5(FIG4):c.1740T>C (p.Asn580=) rs1554304608
NM_014845.5(FIG4):c.1750+3A>G rs758390500
NM_014845.5(FIG4):c.1752T>A (p.Asp584Glu) rs1060501402
NM_014845.5(FIG4):c.1755C>T (p.Ala585=) rs377111248
NM_014845.5(FIG4):c.1809G>A (p.Gly603=) rs148280593
NM_014845.5(FIG4):c.1863C>A (p.Thr621=) rs201744761
NM_014845.5(FIG4):c.1877C>T (p.Pro626Leu) rs772937400
NM_014845.5(FIG4):c.1879A>G (p.Thr627Ala) rs762859144
NM_014845.5(FIG4):c.1880C>A (p.Thr627Lys) rs770831509
NM_014845.5(FIG4):c.1928T>A (p.Leu643Ter) rs1488999396
NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2011A>G (p.Ile671Val) rs1554307877
NM_014845.5(FIG4):c.2036G>A (p.Arg679Gln) rs192447225
NM_014845.5(FIG4):c.2042A>G (p.Tyr681Cys) rs554382573
NM_014845.5(FIG4):c.205C>T (p.Arg69Cys) rs540674198
NM_014845.5(FIG4):c.2069T>C (p.Phe690Ser) rs1237449502
NM_014845.5(FIG4):c.2080A>G (p.Met694Val) rs143531641
NM_014845.5(FIG4):c.2095C>T (p.Arg699Cys) rs764799053
NM_014845.5(FIG4):c.2096G>A (p.Arg699His) rs750091928
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2098G>T (p.Asp700Tyr) rs1554308483
NM_014845.5(FIG4):c.2113A>G (p.Thr705Ala) rs766031746
NM_014845.5(FIG4):c.2115C>T (p.Thr705=) rs201271644
NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) rs139235893
NM_014845.5(FIG4):c.2154A>G (p.Pro718=) rs201138266
NM_014845.5(FIG4):c.2181-10C>A rs1583740892
NM_014845.5(FIG4):c.2192A>G (p.Asn731Ser) rs1467094847
NM_014845.5(FIG4):c.2199A>G (p.Glu733=) rs537464083
NM_014845.5(FIG4):c.2200G>A (p.Glu734Lys) rs372846619
NM_014845.5(FIG4):c.2241G>C (p.Pro747=) rs148589135
NM_014845.5(FIG4):c.2283_2284CT[1] (p.Ser762fs) rs750712213
NM_014845.5(FIG4):c.2289G>A (p.Gly763=) rs756539176
NM_014845.5(FIG4):c.2339A>G (p.Lys780Arg) rs373590484
NM_014845.5(FIG4):c.2360G>A (p.Ser787Asn) rs377017892
NM_014845.5(FIG4):c.2376+5G>C rs528952794
NM_014845.5(FIG4):c.2377-10T>A rs9481005
NM_014845.5(FIG4):c.2382G>A (p.Val794=) rs1201567620
NM_014845.5(FIG4):c.2386C>T (p.Gln796Ter) rs1554309093
NM_014845.5(FIG4):c.2405A>G (p.Tyr802Cys) rs370293982
NM_014845.5(FIG4):c.2459+1G>A rs747768373
NM_014845.5(FIG4):c.2459+5G>A rs367944508
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.2460-8A>G rs201965891
NM_014845.5(FIG4):c.2464G>C (p.Val822Leu) rs1208125100
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.2523G>A (p.Arg841=) rs1554309865
NM_014845.5(FIG4):c.2546+5G>A rs1060501401
NM_014845.5(FIG4):c.2547-3T>A rs537171532
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.2567C>T (p.Ser856Leu) rs200970494
NM_014845.5(FIG4):c.2568G>T (p.Ser856=) rs140055056
NM_014845.5(FIG4):c.2639T>A (p.Ile880Asn) rs746915624
NM_014845.5(FIG4):c.2695C>T (p.Arg899Ter) rs750069994
NM_014845.5(FIG4):c.2704A>G (p.Ile902Val) rs143685038
NM_014845.5(FIG4):c.2713C>T (p.Arg905Cys) rs754970037
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.300G>A (p.Arg100=) rs368831195
NM_014845.5(FIG4):c.301T>C (p.Phe101Leu) rs1209947403
NM_014845.5(FIG4):c.328A>G (p.Ile110Val) rs140331779
NM_014845.5(FIG4):c.350C>T (p.Ala117Val) rs551339249
NM_014845.5(FIG4):c.366T>C (p.His122=) rs772376305
NM_014845.5(FIG4):c.374A>G (p.Tyr125Cys) rs145466148
NM_014845.5(FIG4):c.3_23dup (p.Met1_Pro7dup) rs1462234190
NM_014845.5(FIG4):c.414T>A (p.Asp138Glu) rs1562648534
NM_014845.5(FIG4):c.446+3A>G rs201642753
NM_014845.5(FIG4):c.446+9G>A rs190287033
NM_014845.5(FIG4):c.449A>G (p.Tyr150Cys) rs1233666827
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.5(FIG4):c.50T>C (p.Leu17Pro) rs587777713
NM_014845.5(FIG4):c.512_514del (p.Leu171del) rs763532476
NM_014845.5(FIG4):c.535C>G (p.Leu179Val) rs141116831
NM_014845.5(FIG4):c.535C>T (p.Leu179Phe) rs141116831
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) rs121908288
NM_014845.5(FIG4):c.548G>A (p.Arg183Gln) rs781588508
NM_014845.5(FIG4):c.584A>T (p.Gln195Leu) rs749696803
NM_014845.5(FIG4):c.589C>T (p.Arg197Cys) rs770528195
NM_014845.5(FIG4):c.590G>T (p.Arg197Leu) rs543462663
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014845.5(FIG4):c.640G>A (p.Gly214Arg) rs529048339
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.705G>T (p.Leu235=) rs1026195072
NM_014845.5(FIG4):c.730C>T (p.Arg244Cys) rs138376077
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014845.5(FIG4):c.759del (p.Phe254fs) rs764717219
NM_014845.5(FIG4):c.793C>T (p.Arg265Ter) rs774294963
NM_014845.5(FIG4):c.805G>T (p.Val269Phe) rs1474263523
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014845.5(FIG4):c.80T>C (p.Val27Ala) rs769687105
NM_014845.5(FIG4):c.815T>C (p.Ile272Thr) rs765737780
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) rs786200937
NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) rs138048706
NM_014845.5(FIG4):c.848G>A (p.Arg283His) rs1562655830
NM_014845.5(FIG4):c.870C>T (p.Asn290=) rs1236653957
NM_014845.5(FIG4):c.872G>A (p.Cys291Tyr) rs766829595
NM_014845.5(FIG4):c.918C>T (p.Cys306=) rs369159531
NM_014845.5(FIG4):c.974G>C (p.Arg325Thr) rs1060501400
NM_014845.6(FIG4):c.1116C>G (p.Ile372Met)
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) rs377357931
NM_014845.6(FIG4):c.116T>C (p.Leu39Ser)
NM_014845.6(FIG4):c.1181_1183TTG[1] (p.Val395del)
NM_014845.6(FIG4):c.121A>G (p.Ile41Val)
NM_014845.6(FIG4):c.1220C>T (p.Pro407Leu)
NM_014845.6(FIG4):c.1228A>G (p.Thr410Ala)
NM_014845.6(FIG4):c.1272-10C>T rs201293291
NM_014845.6(FIG4):c.1334G>A (p.Gly445Asp)
NM_014845.6(FIG4):c.1386A>G (p.Glu462=) rs764699770
NM_014845.6(FIG4):c.1434G>A (p.Gln478=)
NM_014845.6(FIG4):c.1601A>G (p.Tyr534Cys)
NM_014845.6(FIG4):c.1620C>T (p.Thr540=) rs746367416
NM_014845.6(FIG4):c.1658G>C (p.Arg553Pro)
NM_014845.6(FIG4):c.16G>T (p.Ala6Ser)
NM_014845.6(FIG4):c.170T>A (p.Val57Asp)
NM_014845.6(FIG4):c.1728A>G (p.Arg576=)
NM_014845.6(FIG4):c.1749_1750+7del
NM_014845.6(FIG4):c.1750+1del
NM_014845.6(FIG4):c.175A>G (p.Thr59Ala)
NM_014845.6(FIG4):c.1804G>A (p.Glu602Lys)
NM_014845.6(FIG4):c.1808G>A (p.Gly603Glu)
NM_014845.6(FIG4):c.1834A>G (p.Thr612Ala)
NM_014845.6(FIG4):c.183A>G (p.Gln61=)
NM_014845.6(FIG4):c.1870C>T (p.Leu624Phe)
NM_014845.6(FIG4):c.1890-2A>G
NM_014845.6(FIG4):c.1996A>G (p.Lys666Glu)
NM_014845.6(FIG4):c.1999T>C (p.Tyr667His)
NM_014845.6(FIG4):c.1A>C (p.Met1Leu)
NM_014845.6(FIG4):c.2018T>A (p.Ile673Asn)
NM_014845.6(FIG4):c.2065dup (p.Thr689fs)
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
NM_014845.6(FIG4):c.2141C>T (p.Thr714Ile)
NM_014845.6(FIG4):c.2147G>A (p.Arg716His)
NM_014845.6(FIG4):c.2183A>G (p.Asn728Ser)
NM_014845.6(FIG4):c.2232C>T (p.Ser744=) rs760578430
NM_014845.6(FIG4):c.2241G>A (p.Pro747=) rs148589135
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp)
NM_014845.6(FIG4):c.2329A>C (p.Thr777Pro)
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=) rs765557108
NM_014845.6(FIG4):c.2429_2430TC[1] (p.Ser811fs)
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
NM_014845.6(FIG4):c.2485C>T (p.His829Tyr)
NM_014845.6(FIG4):c.251C>T (p.Ser84Leu)
NM_014845.6(FIG4):c.2547-1G>A
NM_014845.6(FIG4):c.2568G>A (p.Ser856=) rs140055056
NM_014845.6(FIG4):c.2574T>C (p.Asp858=) rs1583785957
NM_014845.6(FIG4):c.2591A>G (p.Gln864Arg)
NM_014845.6(FIG4):c.2654G>T (p.Gly885Val)
NM_014845.6(FIG4):c.2661dup (p.Gln888fs) rs778839285
NM_014845.6(FIG4):c.266C>T (p.Ala89Val)
NM_014845.6(FIG4):c.2687C>G (p.Ser896Cys)
NM_014845.6(FIG4):c.281G>A (p.Gly94Asp)
NM_014845.6(FIG4):c.289+10C>A rs778732368
NM_014845.6(FIG4):c.321T>G (p.Ile107Met)
NM_014845.6(FIG4):c.351G>A (p.Ala117=) rs375963892
NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)
NM_014845.6(FIG4):c.359G>A (p.Gly120Glu)
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser) rs571563767
NM_014845.6(FIG4):c.401A>G (p.Tyr134Cys)
NM_014845.6(FIG4):c.42G>A (p.Lys14=) rs552856153
NM_014845.6(FIG4):c.434C>T (p.Pro145Leu)
NM_014845.6(FIG4):c.446+5G>C
NM_014845.6(FIG4):c.447-2A>C
NM_014845.6(FIG4):c.469G>A (p.Val157Met)
NM_014845.6(FIG4):c.490del (p.Tyr164fs)
NM_014845.6(FIG4):c.52T>C (p.Tyr18His)
NM_014845.6(FIG4):c.53A>G (p.Tyr18Cys)
NM_014845.6(FIG4):c.559G>A (p.Glu187Lys)
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
NM_014845.6(FIG4):c.788A>G (p.Tyr263Cys)
NM_014845.6(FIG4):c.809C>T (p.Thr270Ile)
NM_014845.6(FIG4):c.865G>A (p.Ala289Thr)
NM_014845.6(FIG4):c.876+8G>A rs923581334
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=) rs115515921
NM_015271.5(TRIM2):c.1028G>C (p.Gly343Ala)
NM_015271.5(TRIM2):c.1043C>G (p.Thr348Ser) rs752113810
NM_015271.5(TRIM2):c.1050C>T (p.Ala350=) rs1433209136
NM_015271.5(TRIM2):c.1073C>T (p.Thr358Met) rs756377335
NM_015271.5(TRIM2):c.1074G>A (p.Thr358=) rs145538082
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) rs768541205
NM_015271.5(TRIM2):c.1093A>C (p.Thr365Pro)
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) rs760086023
NM_015271.5(TRIM2):c.1161C>T (p.Thr387=) rs144994337
NM_015271.5(TRIM2):c.1166A>G (p.Asn389Ser)
NM_015271.5(TRIM2):c.1179C>T (p.Thr393=) rs376619155
NM_015271.5(TRIM2):c.1180G>A (p.Ala394Thr)
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=) rs770558554
NM_015271.5(TRIM2):c.121C>T (p.Arg41Cys)
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057
NM_015271.5(TRIM2):c.1232A>G (p.Asn411Ser)
NM_015271.5(TRIM2):c.1243A>G (p.Thr415Ala)
NM_015271.5(TRIM2):c.1319G>A (p.Arg440Gln)
NM_015271.5(TRIM2):c.1330T>C (p.Phe444Leu) rs1579436975
NM_015271.5(TRIM2):c.1349G>A (p.Arg450Gln) rs777541972
NM_015271.5(TRIM2):c.1381G>C (p.Val461Leu) rs147859999
NM_015271.5(TRIM2):c.1411G>A (p.Gly471Ser)
NM_015271.5(TRIM2):c.1434G>T (p.Val478=) rs751706975
NM_015271.5(TRIM2):c.1445C>G (p.Ala482Gly)
NM_015271.5(TRIM2):c.1451T>A (p.Met484Lys)
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1615A>T (p.Ile539Leu)
NM_015271.5(TRIM2):c.1625A>G (p.Asn542Ser) rs374300347
NM_015271.5(TRIM2):c.1646G>A (p.Arg549His) rs1579646798
NM_015271.5(TRIM2):c.