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. |