INF2, 9-BP DEL, NT490
|
|
NC_000014.8:g.(?_105167683)_(105185180_?)dup
|
|
NC_000014.8:g.(?_105176405)_(105185180_?)dup
|
|
NC_000014.9:g.(?_104701356)_(104703963_?)del
|
|
NM_022489.4(INF2):c.*10C>T
|
rs142710295 |
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu)
|
rs146529868 |
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg)
|
|
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
|
rs375622503 |
NM_022489.4(INF2):c.1078G>A (p.Val360Ile)
|
rs114820975 |
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly)
|
|
NM_022489.4(INF2):c.1118C>T (p.Pro373Leu)
|
|
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)
|
|
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)
|
rs201077878 |
NM_022489.4(INF2):c.1147G>A (p.Val383Met)
|
rs780689756 |
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys)
|
rs374769850 |
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala)
|
rs1416561484 |
NM_022489.4(INF2):c.1189G>A (p.Val397Met)
|
rs771775245 |
NM_022489.4(INF2):c.118C>A (p.Arg40=)
|
rs761238349 |
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
|
|
NM_022489.4(INF2):c.1210A>G (p.Ser404Gly)
|
|
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
|
|
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu)
|
|
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser)
|
rs766635668 |
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)
|
|
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del)
|
rs751555478 |
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del)
|
|
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
|
rs777455096 |
NM_022489.4(INF2):c.1305C>T (p.Ala435=)
|
rs1396253816 |
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
|
rs746697423 |
NM_022489.4(INF2):c.1336dup (p.Leu446fs)
|
rs1278804782 |
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg)
|
|
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe)
|
rs545495465 |
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser)
|
rs760986113 |
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
|
|
NM_022489.4(INF2):c.137C>T (p.Ser46Phe)
|
|
NM_022489.4(INF2):c.1405A>G (p.Met469Val)
|
|
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp)
|
rs1166010216 |
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala)
|
rs1271375014 |
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
|
|
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)
|
rs201323100 |
NM_022489.4(INF2):c.1452T>C (p.Cys484=)
|
rs371775604 |
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
|
rs780642540 |
NM_022489.4(INF2):c.1488C>T (p.Gly496=)
|
|
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)
|
rs1555373261 |
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu)
|
rs561201601 |
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter)
|
rs1555373267 |
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu)
|
rs111589086 |
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)
|
|
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
|
|
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)
|
rs181694819 |
NM_022489.4(INF2):c.1587C>T (p.Pro529=)
|
rs755649066 |
NM_022489.4(INF2):c.1587dup (p.Val530fs)
|
rs748929807 |
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
|
|
NM_022489.4(INF2):c.1593G>A (p.Ala531=)
|
rs186326868 |
NM_022489.4(INF2):c.1599C>T (p.Gly533=)
|
|
NM_022489.4(INF2):c.1605G>A (p.Glu535=)
|
rs374316478 |
NM_022489.4(INF2):c.1625T>C (p.Val542Ala)
|
rs1467920811 |
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
|
rs1595163736 |
NM_022489.4(INF2):c.170T>G (p.Leu57Arg)
|
rs1595163736 |
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys)
|
rs201593594 |
NM_022489.4(INF2):c.1734T>G (p.Arg578=)
|
|
NM_022489.4(INF2):c.1736-6C>T
|
rs371991103 |
NM_022489.4(INF2):c.1755G>A (p.Ala585=)
|
rs375573206 |
NM_022489.4(INF2):c.1770C>T (p.Pro590=)
|
rs549506051 |
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn)
|
rs369421697 |
NM_022489.4(INF2):c.1771G>C (p.Asp591His)
|
rs369421697 |
NM_022489.4(INF2):c.1773C>T (p.Asp591=)
|
rs201853087 |
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)
|
rs752971046 |
NM_022489.4(INF2):c.1821C>A (p.Ser607=)
|
rs751949801 |
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly)
|
rs539256832 |
NM_022489.4(INF2):c.186C>T (p.Gly62=)
|
rs1555373276 |
NM_022489.4(INF2):c.1888-8T>G
|
rs889481678 |
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)
|
|
NM_022489.4(INF2):c.18C>T (p.Gly6=)
|
rs1032255653 |
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)
|
rs761939643 |
NM_022489.4(INF2):c.1950-10C>T
|
rs199987321 |
NM_022489.4(INF2):c.1950-3C>A
|
rs777132952 |
NM_022489.4(INF2):c.1956C>T (p.Asn652=)
|
rs767304781 |
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys)
|
rs368576387 |
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp)
|
rs1047172155 |
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp)
|
rs1378876029 |
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr)
|
rs189559257 |
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp)
|
rs138577569 |
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile)
|
rs1279137766 |
NM_022489.4(INF2):c.203T>C (p.Phe68Ser)
|
rs1595163801 |
NM_022489.4(INF2):c.2040C>T (p.Pro680=)
|
rs373736329 |
NM_022489.4(INF2):c.2049C>T (p.His683=)
|
rs760045317 |
NM_022489.4(INF2):c.2052+3A>G
|
rs1382855956 |
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)
|
rs199526439 |
NM_022489.4(INF2):c.205_216del (p.Leu69_Ser72del)
|
rs1595163808 |
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)
|
rs1595163820 |
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
|
rs372333024 |
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly)
|
rs769120676 |
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
|
|
NM_022489.4(INF2):c.2118C>T (p.Leu706=)
|
rs1595173916 |
NM_022489.4(INF2):c.2138+9G>A
|
rs201065953 |
NM_022489.4(INF2):c.2145G>A (p.Gln715=)
|
rs1228218526 |
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys)
|
rs775500020 |
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr)
|
|
NM_022489.4(INF2):c.2180C>T (p.Ala727Val)
|
|
NM_022489.4(INF2):c.2181G>A (p.Ala727=)
|
rs370830904 |
NM_022489.4(INF2):c.2184C>T (p.Ala728=)
|
rs564499884 |
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
|
|
NM_022489.4(INF2):c.2188G>A (p.Val730Met)
|
rs373199310 |
NM_022489.4(INF2):c.218G>T (p.Gly73Val)
|
rs918089359 |
NM_022489.4(INF2):c.2202G>A (p.Val734=)
|
rs376146089 |
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
|
|
NM_022489.4(INF2):c.221T>G (p.Leu74Arg)
|
rs1566777566 |
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg)
|
rs1595174468 |
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys)
|
rs569586169 |
NM_022489.4(INF2):c.2240-9C>T
|
rs759780715 |
NM_022489.4(INF2):c.2255G>A (p.Arg752His)
|
rs1450593874 |
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
|
|
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
|
rs1595163851 |
NM_022489.4(INF2):c.230T>G (p.Leu77Arg)
|
rs1595163851 |
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr)
|
|
NM_022489.4(INF2):c.2322C>T (p.Thr774=)
|
rs59751492 |
NM_022489.4(INF2):c.233T>A (p.Leu78Gln)
|
|
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg)
|
|
NM_022489.4(INF2):c.2406C>G (p.His802Gln)
|
|
NM_022489.4(INF2):c.2410G>A (p.Val804Met)
|
|
NM_022489.4(INF2):c.2418+3G>A
|
rs748896420 |
NM_022489.4(INF2):c.2418+8G>A
|
rs778305724 |
NM_022489.4(INF2):c.2419-8C>A
|
rs372720253 |
NM_022489.4(INF2):c.2433C>T (p.Ser811=)
|
rs140010249 |
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn)
|
rs373532334 |
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)
|
rs79327775 |
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
|
|
NM_022489.4(INF2):c.246G>A (p.Ala82=)
|
rs377173164 |
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)
|
rs4983379 |
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
|
rs377340315 |
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)
|
rs377340315 |
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro)
|
rs575569437 |
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys)
|
rs201534539 |
NM_022489.4(INF2):c.2510G>A (p.Arg837His)
|
rs374697429 |
NM_022489.4(INF2):c.251T>C (p.Leu84Pro)
|
|
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn)
|
|
NM_022489.4(INF2):c.2550C>T (p.Thr850=)
|
rs771112980 |
NM_022489.4(INF2):c.2556G>A (p.Arg852=)
|
rs763348932 |
NM_022489.4(INF2):c.2571C>T (p.Ser857=)
|
rs62640005 |
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
|
rs201292830 |
NM_022489.4(INF2):c.2574G>A (p.Val858=)
|
rs371768502 |
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
|
|
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala)
|
rs753660816 |
NM_022489.4(INF2):c.2603G>A (p.Arg868His)
|
rs369698920 |
NM_022489.4(INF2):c.2611-3_2766delinsA
|
|
NM_022489.4(INF2):c.2625C>G (p.Ala875=)
|
rs377398103 |
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)
|
|
NM_022489.4(INF2):c.262G>A (p.Gly88Ser)
|
|
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln)
|
rs142678449 |
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys)
|
rs1314746427 |
NM_022489.4(INF2):c.264C>T (p.Gly88=)
|
rs201587219 |
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys)
|
rs748529803 |
NM_022489.4(INF2):c.265G>A (p.Val89Ile)
|
rs765566674 |
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp)
|
rs926222455 |
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln)
|
rs777498088 |
NM_022489.4(INF2):c.2673G>A (p.Arg891=)
|
rs938468023 |
NM_022489.4(INF2):c.2682C>T (p.Ala894=)
|
rs770520588 |
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn)
|
rs776314008 |
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)
|
|
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
|
|
NM_022489.4(INF2):c.2726C>T (p.Thr909Met)
|
rs201336550 |
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)
|
rs377145979 |
NM_022489.4(INF2):c.2766C>T (p.Arg922=)
|
rs201044782 |
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)
|
|
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs)
|
rs1566785235 |
NM_022489.4(INF2):c.2801C>T (p.Ala934Val)
|
rs1001885245 |
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)
|
rs781494318 |
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys)
|
rs1595178511 |
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp)
|
|
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly)
|
rs912951002 |
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)
|
rs199873407 |
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807 |
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln)
|
rs1385146569 |
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser)
|
rs369417066 |
NM_022489.4(INF2):c.2879-9G>A
|
rs373139405 |
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr)
|
rs376067427 |
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys)
|
|
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser)
|
|
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)
|
rs757988412 |
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly)
|
rs935688609 |
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly)
|
rs748234626 |
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile)
|
rs377414980 |
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn)
|
rs370719592 |
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)
|
rs747569209 |
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn)
|
rs148541427 |
NM_022489.4(INF2):c.3013A>G (p.Met1005Val)
|
|
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg)
|
rs551015347 |
NM_022489.4(INF2):c.3041-3C>T
|
|
NM_022489.4(INF2):c.3041-4C>T
|
rs945997134 |
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser)
|
|
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)
|
rs368372551 |
NM_022489.4(INF2):c.3069C>T (p.Pro1023=)
|
rs75382114 |
NM_022489.4(INF2):c.3078C>T (p.Ser1026=)
|
rs377023270 |
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)
|
rs369987125 |
NM_022489.4(INF2):c.3083G>A (p.Arg1028His)
|
rs1368908308 |
NM_022489.4(INF2):c.3102C>T (p.Pro1034=)
|
rs375864368 |
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)
|
rs368995122 |
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp)
|
rs751648279 |
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)
|
rs186075307 |
NM_022489.4(INF2):c.310T>C (p.Cys104Arg)
|
rs387907034 |
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)
|
|
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr)
|
rs387907035 |
NM_022489.4(INF2):c.311G>T (p.Cys104Phe)
|
rs387907035 |
NM_022489.4(INF2):c.3126C>T (p.Ser1042=)
|
rs1035033414 |
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys)
|
rs958862615 |
NM_022489.4(INF2):c.312C>G (p.Cys104Trp)
|
rs387907036 |
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)
|
rs780428043 |
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)
|
rs200369827 |
NM_022489.4(INF2):c.314T>A (p.Val105Glu)
|
rs1555373363 |
NM_022489.4(INF2):c.314T>G (p.Val105Gly)
|
rs1555373363 |
NM_022489.4(INF2):c.3153C>T (p.Asp1051=)
|
rs117457867 |
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
|
rs760721935 |
NM_022489.4(INF2):c.3170C>G (p.Pro1057Arg)
|
|
NM_022489.4(INF2):c.317G>C (p.Arg106Pro)
|
rs1595164070 |
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala)
|
rs202244190 |
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser)
|
|
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu)
|
rs376139171 |
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
|
|
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp)
|
|
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys)
|
rs201445955 |
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)
|
rs370169829 |
NM_022489.4(INF2):c.323T>A (p.Val108Asp)
|
rs1595164081 |
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser)
|
rs143540449 |
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn)
|
rs557741807 |
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln)
|
rs368869709 |
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile)
|
rs371946522 |
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro)
|
rs1212327132 |
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu)
|
|
NM_022489.4(INF2):c.3372C>T (p.Ala1124=)
|
rs769591308 |
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met)
|
rs3803311 |
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val)
|
rs759925463 |
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
|
rs1595164091 |
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly)
|
|
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
|
|
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala)
|
|
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly)
|
|
NM_022489.4(INF2):c.3474C>T (p.Ser1158=)
|
rs1555375620 |
NM_022489.4(INF2):c.3476G>A (p.Arg1159His)
|
rs200591522 |
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser)
|
rs9672065 |
NM_022489.4(INF2):c.34G>A (p.Ala12Thr)
|
|
NM_022489.4(INF2):c.3501C>A (p.Gly1167=)
|
rs776977547 |
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
|
|
NM_022489.4(INF2):c.3519C>T (p.Asp1173=)
|
rs767075044 |
NM_022489.4(INF2):c.3519_3524CGAGGA[1] (p.1171_1172DE[2])
|
rs748373029 |
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)
|
rs778879482 |
NM_022489.4(INF2):c.3537G>A (p.Thr1179=)
|
rs758215424 |
NM_022489.4(INF2):c.354C>T (p.Ile118=)
|
rs771038193 |
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr)
|
rs374684004 |
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys)
|
|
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe)
|
rs201715539 |
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu)
|
rs1555375657 |
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys)
|
|
NM_022489.4(INF2):c.3585G>A (p.Glu1195=)
|
rs569502255 |
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val)
|
rs372714774 |
NM_022489.4(INF2):c.3591G>A (p.Ala1197=)
|
rs765090867 |
NM_022489.4(INF2):c.3591G>T (p.Ala1197=)
|
rs765090867 |
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
|
|
NM_022489.4(INF2):c.3598G>C (p.Asp1200His)
|
rs764338863 |
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu)
|
rs751351877 |
NM_022489.4(INF2):c.3606G>A (p.Ser1202=)
|
rs756383109 |
NM_022489.4(INF2):c.3612G>A (p.Ser1204=)
|
rs150811244 |
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly)
|
rs989477091 |
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp)
|
rs374049468 |
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp)
|
rs200823300 |
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln)
|
rs199801767 |
NM_022489.4(INF2):c.363C>T (p.Asn121=)
|
rs1174416960 |
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
|
|
NM_022489.4(INF2):c.3648G>A (p.Lys1216=)
|
rs139196357 |
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn)
|
rs139196357 |
NM_022489.4(INF2):c.3654C>T (p.Thr1218=)
|
rs557462297 |
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln)
|
|
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro)
|
rs754128326 |
NM_022489.4(INF2):c.366G>A (p.Gln122=)
|
rs770186824 |
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)
|
|
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser)
|
rs201091360 |
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)
|
rs763988639 |
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu)
|
rs775075672 |
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
|
|
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu)
|
|
NM_022489.4(INF2):c.3734_3735TG[3] (p.Val1247fs)
|
rs753327806 |
NM_022489.4(INF2):c.3744C>T (p.Ile1248=)
|
rs765432583 |
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu)
|
|
NM_022489.4(INF2):c.37G>A (p.Ala13Thr)
|
rs201383094 |
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
|
rs387907037 |
NM_022489.4(INF2):c.391+6C>T
|
rs75115369 |
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
|
rs387907038 |
NM_022489.4(INF2):c.395T>G (p.Leu132Arg)
|
rs387907038 |
NM_022489.4(INF2):c.397G>A (p.Asp133Asn)
|
rs774135330 |
NM_022489.4(INF2):c.408C>T (p.Asn136=)
|
rs767069639 |
NM_022489.4(INF2):c.409G>A (p.Val137Met)
|
rs200713451 |
NM_022489.4(INF2):c.410T>G (p.Val137Gly)
|
rs760611306 |
NM_022489.4(INF2):c.427G>A (p.Val143Met)
|
rs1237835000 |
NM_022489.4(INF2):c.42G>A (p.Leu14=)
|
rs62638758 |
NM_022489.4(INF2):c.440T>C (p.Leu147Pro)
|
rs1555373588 |
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)
|
rs1555373599 |
NM_022489.4(INF2):c.494T>C (p.Leu165Pro)
|
rs1595165937 |
NM_022489.4(INF2):c.507+6C>T
|
rs749868411 |
NM_022489.4(INF2):c.507+7G>A
|
rs201568246 |
NM_022489.4(INF2):c.510G>A (p.Thr170=)
|
rs750711173 |
NM_022489.4(INF2):c.519C>T (p.Ser173=)
|
rs780247558 |
NM_022489.4(INF2):c.550G>A (p.Glu184Lys)
|
rs1566778676 |
NM_022489.4(INF2):c.554T>C (p.Leu185Pro)
|
rs1555373625 |
NM_022489.4(INF2):c.558C>T (p.Ser186=)
|
rs150714865 |
NM_022489.4(INF2):c.564C>T (p.Ser188=)
|
rs746732992 |
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
|
|
NM_022489.4(INF2):c.570C>T (p.Asn190=)
|
rs200662352 |
NM_022489.4(INF2):c.580G>A (p.Val194Met)
|
|
NM_022489.4(INF2):c.583G>A (p.Val195Ile)
|
rs1595166165 |
NM_022489.4(INF2):c.583G>T (p.Val195Phe)
|
|
NM_022489.4(INF2):c.585C>T (p.Val195=)
|
rs759408802 |
NM_022489.4(INF2):c.597C>T (p.Ser199=)
|
rs372269719 |
NM_022489.4(INF2):c.598G>A (p.Val200Met)
|
rs377272716 |
NM_022489.4(INF2):c.609C>T (p.Ala203=)
|
rs140017506 |
NM_022489.4(INF2):c.610G>A (p.Val204Ile)
|
rs1049200069 |
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
|
rs1012899025 |
NM_022489.4(INF2):c.634C>T (p.Arg212Cys)
|
rs748481552 |
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
|
rs746572452 |
NM_022489.4(INF2):c.639G>A (p.Ala213=)
|
rs149858291 |
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
|
rs912928648 |
NM_022489.4(INF2):c.651G>A (p.Leu217=)
|
rs780516674 |
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183 |
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015 |
NM_022489.4(INF2):c.67T>A (p.Ser23Thr)
|
rs746964937 |
NM_022489.4(INF2):c.67T>G (p.Ser23Ala)
|
|
NM_022489.4(INF2):c.700C>A (p.Arg234=)
|
|
NM_022489.4(INF2):c.733C>G (p.Leu245Val)
|
rs765986755 |
NM_022489.4(INF2):c.740C>T (p.Ala247Val)
|
|
NM_022489.4(INF2):c.744C>T (p.Phe248=)
|
rs372799744 |
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del)
|
|
NM_022489.4(INF2):c.782G>A (p.Arg261Gln)
|
rs749543418 |
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
|
rs1364540701 |
NM_022489.4(INF2):c.792C>T (p.Gly264=)
|
rs768718406 |
NM_022489.4(INF2):c.798C>A (p.Val266=)
|
|
NM_022489.4(INF2):c.798C>G (p.Val266=)
|
rs375005967 |
NM_022489.4(INF2):c.799G>A (p.Asp267Asn)
|
rs772599038 |
NM_022489.4(INF2):c.844-6G>A
|
rs370399987 |
NM_022489.4(INF2):c.850T>C (p.Cys284Arg)
|
rs374935145 |
NM_022489.4(INF2):c.879G>A (p.Ser293=)
|
rs184709736 |
NM_022489.4(INF2):c.885G>A (p.Leu295=)
|
rs370680236 |
NM_022489.4(INF2):c.916C>T (p.Arg306Cys)
|
rs542700662 |
NM_022489.4(INF2):c.942C>T (p.Ala314=)
|
rs774989778 |
NM_022489.4(INF2):c.945G>A (p.Leu315=)
|
rs1475991845 |
NM_022489.4(INF2):c.949A>G (p.Ser317Gly)
|
rs762702624 |
NM_022489.4(INF2):c.967G>A (p.Val323Met)
|
rs761806103 |
NM_022489.4(INF2):c.985+10C>T
|
rs755849718 |
NM_022489.4(INF2):c.986-9C>G
|
|
NM_022489.4(INF2):c.997A>G (p.Thr333Ala)
|
|