ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E

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ClinVar version:
Total variants: 1206
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530 0.98049
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301 0.88426
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535 0.79980
NM_022489.4(INF2):c.2310+8del rs3840006 0.58720
NM_022489.4(INF2):c.1949+16A>G rs11850821 0.21385
NM_022489.4(INF2):c.2775+15C>T rs73347508 0.06749
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser) rs34251364 0.05864
NM_022489.4(INF2):c.843+16C>T rs118017785 0.05808
NM_022489.4(INF2):c.1227G>T (p.Ser409=) rs3809455 0.03433
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492 0.02373
NM_022489.4(INF2):c.391+18A>T rs115458897 0.02077
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005 0.01396
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_022489.4(INF2):c.391+17G>A rs4074531 0.01087
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604 0.01071
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478 0.00781
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449 0.00781
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086 0.00779
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307 0.00532
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975 0.00483
NM_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114 0.00477
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270 0.00272
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868 0.00250
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249 0.00248
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775 0.00247
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311 0.00242
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427 0.00214
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_022489.4(INF2):c.3694+13G>C rs776214809 0.00163
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449 0.00150
NM_022489.4(INF2):c.1647A>G (p.Ala549=) rs201674759 0.00143
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser) rs766635668 0.00138
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244 0.00134
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827 0.00126
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594 0.00116
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407 0.00098
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_022489.4(INF2):c.1950-10C>T rs199987321 0.00082
NM_022489.4(INF2):c.1329A>C (p.Pro443=) rs769756576 0.00062
NM_022489.4(INF2):c.2138+12C>T rs186410473 0.00051
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878 0.00048
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln) rs199801767 0.00047
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr) rs189559257 0.00043
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113 0.00036
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955 0.00036
NM_022489.4(INF2):c.3747G>A (p.Gln1249=) rs149939482 0.00036
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094 0.00034
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539 0.00033
NM_022489.4(INF2):c.3476G>A (p.Arg1159His) rs200591522 0.00033
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_022489.4(INF2):c.639G>A (p.Ala213=) rs149858291 0.00031
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_022489.4(INF2):c.2187C>T (p.Ala729=) rs766576610 0.00029
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_022489.4(INF2):c.1929C>T (p.Ile643=) rs756712490 0.00026
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427 0.00023
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539 0.00022
NM_022489.4(INF2):c.2409C>T (p.His803=) rs767953575 0.00020
NM_022489.4(INF2):c.3040+16A>G rs367565825 0.00020
NM_022489.4(INF2):c.3013A>G (p.Met1005Val) rs368569489 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_022489.4(INF2):c.2418+10G>T rs748035327 0.00018
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439 0.00016
NM_022489.4(INF2):c.1736-6C>T rs371991103 0.00015
NM_022489.4(INF2):c.2054T>C (p.Ile685Thr) rs201203979 0.00015
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr) rs533208785 0.00015
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379 0.00014
NM_022489.4(INF2):c.306C>T (p.Val102=) rs748335660 0.00014
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu) rs376139171 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_022489.4(INF2):c.966C>T (p.Ala322=) rs774024906 0.00013
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser) rs767748953 0.00012
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465 0.00012
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) rs374684004 0.00012
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744 0.00012
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp) rs138577569 0.00011
NM_022489.4(INF2):c.2053-16G>A rs371712402 0.00011
NM_022489.4(INF2):c.2239+16C>T rs370364755 0.00011
NM_022489.4(INF2):c.2367G>A (p.Thr789=) rs368194536 0.00011
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_022489.4(INF2):c.844-6G>A rs370399987 0.00011
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp) rs1166010216 0.00010
NM_022489.4(INF2):c.1428A>G (p.Leu476=) rs765740200 0.00010
NM_022489.4(INF2):c.1458C>T (p.Phe486=) rs1420347614 0.00010
NM_022489.4(INF2):c.2202G>A (p.Val734=) rs376146089 0.00010
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315 0.00010
NM_022489.4(INF2):c.3040+11C>T rs374390500 0.00010
NM_022489.4(INF2):c.474C>T (p.His158=) rs141172921 0.00010
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937 0.00010
NM_022489.4(INF2):c.1197C>T (p.His399=) rs746493706 0.00009
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 0.00009
NM_022489.4(INF2):c.2053-13C>T rs753775095 0.00009
NM_022489.4(INF2):c.2622G>A (p.Ser874=) rs374311535 0.00009
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile) rs371946522 0.00009
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297 0.00009
NM_022489.4(INF2):c.3694+20C>T rs769373012 0.00009
NM_022489.4(INF2):c.3744C>T (p.Ile1248=) rs765432583 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_022489.4(INF2):c.3157G>A (p.Val1053Met) rs760721935 0.00008
NM_022489.4(INF2):c.668-12G>A rs367924307 0.00008
NM_022489.4(INF2):c.*1+1G>C rs758452999 0.00007
NM_022489.4(INF2):c.1304C>T (p.Ala435Val) rs777455096 0.00007
NM_022489.4(INF2):c.1377G>A (p.Pro459=) rs776870726 0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met) rs369984449 0.00007
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys) rs569586169 0.00007
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys) rs369987125 0.00007
NM_022489.4(INF2):c.507+19G>A rs771875521 0.00007
NM_022489.4(INF2):c.597C>T (p.Ser199=) rs372269719 0.00007
NM_022489.4(INF2):c.684C>T (p.Asp228=) rs555087041 0.00007
NM_022489.4(INF2):c.1448C>T (p.Ser483Phe) rs753188664 0.00006
NM_022489.4(INF2):c.1614C>T (p.Ile538=) rs201561899 0.00006
NM_022489.4(INF2):c.1771G>C (p.Asp591His) rs369421697 0.00006
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) rs539256832 0.00006
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr) rs762960061 0.00006
NM_022489.4(INF2):c.2254C>T (p.Arg752Cys) rs749405096 0.00006
NM_022489.4(INF2):c.237G>A (p.Glu79=) rs781088811 0.00006
NM_022489.4(INF2):c.2423C>T (p.Ala808Val) rs200948588 0.00006
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2599G>A (p.Glu867Lys) rs777850657 0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979 0.00006
NM_022489.4(INF2):c.2879-10C>T rs534732317 0.00006
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val) rs368372551 0.00006
NM_022489.4(INF2):c.3102C>T (p.Pro1034=) rs375864368 0.00006
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867 0.00006
NM_022489.4(INF2):c.366G>A (p.Gln122=) rs770186824 0.00006
NM_022489.4(INF2):c.507+6C>T rs749868411 0.00006
NM_022489.4(INF2):c.508-14C>T rs372257945 0.00006
NM_022489.4(INF2):c.885G>A (p.Leu295=) rs370680236 0.00006
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540 0.00005
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066 0.00005
NM_022489.4(INF2):c.1950-3C>A rs777132952 0.00005
NM_022489.4(INF2):c.2419-14G>A rs746955943 0.00005
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334 0.00005
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys) rs748529803 0.00005
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008 0.00005
NM_022489.4(INF2):c.2879-9G>A rs373139405 0.00005
NM_022489.4(INF2):c.3372C>T (p.Ala1124=) rs769591308 0.00005
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp) rs374049468 0.00005
NM_022489.4(INF2):c.598G>A (p.Val200Met) rs377272716 0.00005
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452 0.00005
NM_022489.4(INF2):c.1147G>A (p.Val383Met) rs780689756 0.00004
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.118C>A (p.Arg40=) rs761238349 0.00004
NM_022489.4(INF2):c.1286T>C (p.Leu429Pro) rs755557218 0.00004
NM_022489.4(INF2):c.1293T>C (p.Pro431=) rs758725838 0.00004
NM_022489.4(INF2):c.1725C>T (p.Asn575=) rs368235032 0.00004
NM_022489.4(INF2):c.1736-17G>A rs368134734 0.00004
NM_022489.4(INF2):c.1791C>T (p.Pro597=) rs377222356 0.00004
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys) rs368576387 0.00004
NM_022489.4(INF2):c.2043G>A (p.Glu681=) rs776591878 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884 0.00004
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln) rs375390523 0.00004
NM_022489.4(INF2):c.2239+17G>A rs898249257 0.00004
NM_022489.4(INF2):c.2240-5T>C rs765264633 0.00004
NM_022489.4(INF2):c.2418+3G>A rs748896420 0.00004
NM_022489.4(INF2):c.2418+8G>A rs778305724 0.00004
NM_022489.4(INF2):c.2556G>A (p.Arg852=) rs763348932 0.00004
NM_022489.4(INF2):c.2765G>A (p.Arg922His) rs749197190 0.00004
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807 0.00004
NM_022489.4(INF2):c.3057T>C (p.Pro1019=) rs770151373 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_022489.4(INF2):c.3402C>T (p.Pro1134=) rs773425934 0.00004
NM_022489.4(INF2):c.3436G>A (p.Asp1146Asn) rs749079171 0.00004
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val) rs753263522 0.00004
NM_022489.4(INF2):c.359G>A (p.Ser120Asn) rs777096903 0.00004
NM_022489.4(INF2):c.3606G>A (p.Ser1202=) rs756383109 0.00004
NM_022489.4(INF2):c.3611C>T (p.Ser1204Leu) rs376222605 0.00004
NM_022489.4(INF2):c.3694+16G>A rs556924432 0.00004
NM_022489.4(INF2):c.3719A>G (p.Asn1240Ser) rs1306025921 0.00004
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu) rs1026924897 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_022489.4(INF2):c.519C>T (p.Ser173=) rs780247558 0.00004
NM_022489.4(INF2):c.701+19G>A rs371962265 0.00004
NM_022489.4(INF2):c.916C>T (p.Arg306Cys) rs542700662 0.00004
NM_022489.4(INF2):c.1146C>T (p.Ser382=) rs756188227 0.00003
NM_022489.4(INF2):c.1254G>A (p.Ala418=) rs1370627984 0.00003
NM_022489.4(INF2):c.1305C>T (p.Ala435=) rs1396253816 0.00003
NM_022489.4(INF2):c.1389G>A (p.Leu463=) rs1250341042 0.00003
NM_022489.4(INF2):c.1500G>A (p.Pro500=) rs755670925 0.00003
NM_022489.4(INF2):c.1592C>T (p.Ala531Val) rs200386025 0.00003
NM_022489.4(INF2):c.1821C>A (p.Ser607=) rs751949801 0.00003
NM_022489.4(INF2):c.1848C>T (p.Pro616=) rs779849550 0.00003
NM_022489.4(INF2):c.1949+18C>T rs1484348980 0.00003
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020 0.00003
NM_022489.4(INF2):c.2157G>A (p.Glu719=) rs925997581 0.00003
NM_022489.4(INF2):c.2310C>T (p.Tyr770=) rs758454108 0.00003
NM_022489.4(INF2):c.2311-12T>C rs558346235 0.00003
NM_022489.4(INF2):c.2311-4C>G rs371953149 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.2510G>A (p.Arg837His) rs374697429 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.2682C>T (p.Ala894=) rs770520588 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 0.00003
NM_022489.4(INF2):c.2801C>T (p.Ala934Val) rs1001885245 0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318 0.00003
NM_022489.4(INF2):c.2835G>A (p.Ala945=) rs368074903 0.00003
NM_022489.4(INF2):c.2847G>A (p.Ala949=) rs754546219 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347 0.00003
NM_022489.4(INF2):c.3223C>T (p.Arg1075Cys) rs376685243 0.00003
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln) rs368869709 0.00003
NM_022489.4(INF2):c.3435C>T (p.Ala1145=) rs780026536 0.00003
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys) rs755527335 0.00003
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val) rs372714774 0.00003
NM_022489.4(INF2):c.392-8C>G rs769195530 0.00003
NM_022489.4(INF2):c.580G>A (p.Val194Met) rs368298329 0.00003
NM_022489.4(INF2):c.585C>T (p.Val195=) rs759408802 0.00003
NM_022489.4(INF2):c.985+10C>T rs755849718 0.00003
NM_022489.4(INF2):c.1050G>A (p.Pro350=) rs750840228 0.00002
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg) rs762096939 0.00002
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr) rs1208616690 0.00002
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu) rs1375222598 0.00002
NM_022489.4(INF2):c.1405A>G (p.Met469Val) rs1461056808 0.00002
NM_022489.4(INF2):c.1564C>T (p.Leu522=) rs369895163 0.00002
NM_022489.4(INF2):c.1615G>A (p.Val539Met) rs769014945 0.00002
NM_022489.4(INF2):c.1735+10C>T rs772368953 0.00002
NM_022489.4(INF2):c.1736-19C>G rs968695542 0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046 0.00002
NM_022489.4(INF2):c.1865G>A (p.Arg622Gln) rs200155666 0.00002
NM_022489.4(INF2):c.1887+8C>T rs569295413 0.00002
NM_022489.4(INF2):c.18C>T (p.Gly6=) rs1032255653 0.00002
NM_022489.4(INF2):c.1965C>T (p.Val655=) rs752090814 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2005G>A (p.Val669Met) rs756038490 0.00002
NM_022489.4(INF2):c.2040C>T (p.Pro680=) rs373736329 0.00002
NM_022489.4(INF2):c.2049C>T (p.His683=) rs760045317 0.00002
NM_022489.4(INF2):c.2053-3C>T rs754983807 0.00002
NM_022489.4(INF2):c.2311-15C>T rs1430711592 0.00002
NM_022489.4(INF2):c.2376G>A (p.Lys792=) rs1186010964 0.00002
NM_022489.4(INF2):c.2410G>A (p.Val804Met) rs199979156 0.00002
NM_022489.4(INF2):c.2419-8C>A rs372720253 0.00002
NM_022489.4(INF2):c.2424G>A (p.Ala808=) rs761313685 0.00002
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437 0.00002
NM_022489.4(INF2):c.255G>T (p.Ser85=) rs369037445 0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830 0.00002
NM_022489.4(INF2):c.2775+13G>A rs759589756 0.00002
NM_022489.4(INF2):c.2802G>A (p.Ala934=) rs768008674 0.00002
NM_022489.4(INF2):c.288G>C (p.Leu96=) rs557082203 0.00002
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg) rs748286029 0.00002
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn) rs201180682 0.00002
NM_022489.4(INF2):c.2979C>T (p.Arg993=) rs372735722 0.00002
NM_022489.4(INF2):c.3040+2T>C rs1437272364 0.00002
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met) rs760488958 0.00002
NM_022489.4(INF2):c.3519C>T (p.Asp1173=) rs767075044 0.00002
NM_022489.4(INF2):c.3558C>T (p.Asp1186=) rs762019986 0.00002
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser) rs201091360 0.00002
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs) rs763988639 0.00002
NM_022489.4(INF2):c.372C>T (p.Tyr124=) rs368077298 0.00002
NM_022489.4(INF2):c.408C>T (p.Asn136=) rs767069639 0.00002
NM_022489.4(INF2):c.564C>T (p.Ser188=) rs746732992 0.00002
NM_022489.4(INF2):c.951C>A (p.Ser317Arg) rs763642754 0.00002
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg) rs747903915 0.00001
NM_022489.4(INF2):c.1109G>T (p.Gly370Val) rs772790262 0.00001
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe) rs770882784 0.00001
NM_022489.4(INF2):c.1118C>T (p.Pro373Leu) rs776585357 0.00001
NM_022489.4(INF2):c.1119G>A (p.Pro373=) rs759304513 0.00001
NM_022489.4(INF2):c.1152G>A (p.Glu384=) rs1309305897 0.00001
NM_022489.4(INF2):c.1182C>T (p.Cys394=) rs755392580 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1209G>C (p.Glu403Asp) rs1235365370 0.00001
NM_022489.4(INF2):c.1210A>G (p.Ser404Gly) rs776536088 0.00001
NM_022489.4(INF2):c.1299C>T (p.Ser433=) rs1431857911 0.00001
NM_022489.4(INF2):c.1337T>A (p.Leu446Gln) rs775331561 0.00001
NM_022489.4(INF2):c.1368A>G (p.Thr456=) rs1371464168 0.00001
NM_022489.4(INF2):c.1414C>A (p.Pro472Thr) rs1316096936 0.00001
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala) rs1271375014 0.00001
NM_022489.4(INF2):c.1436C>T (p.Pro479Leu) rs1203712573 0.00001
NM_022489.4(INF2):c.1437C>G (p.Pro479=) rs1284032263 0.00001
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) rs1218562289 0.00001
NM_022489.4(INF2):c.1471C>T (p.Pro491Ser) rs1378009593 0.00001
NM_022489.4(INF2):c.1484C>T (p.Pro495Leu) rs756913857 0.00001
NM_022489.4(INF2):c.1488C>T (p.Gly496=) rs1293404365 0.00001
NM_022489.4(INF2):c.1503C>T (p.Pro501=) rs1057520913 0.00001
NM_022489.4(INF2):c.1516C>T (p.Leu506=) rs747182187 0.00001
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr) rs751942076 0.00001
NM_022489.4(INF2):c.1593G>A (p.Ala531=) rs186326868 0.00001
NM_022489.4(INF2):c.1601T>C (p.Met534Thr) rs772037388 0.00001
NM_022489.4(INF2):c.1605G>A (p.Glu535=) rs374316478 0.00001
NM_022489.4(INF2):c.1612A>G (p.Ile538Val) rs377402690 0.00001
NM_022489.4(INF2):c.1646C>T (p.Ala549Val) rs1191795011 0.00001
NM_022489.4(INF2):c.1665G>T (p.Arg555=) rs765866844 0.00001
NM_022489.4(INF2):c.1734T>G (p.Arg578=) rs762313731 0.00001
NM_022489.4(INF2):c.1777G>A (p.Glu593Lys) rs775320095 0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn) rs368948089 0.00001
NM_022489.4(INF2):c.1878G>A (p.Glu626=) rs766224685 0.00001
NM_022489.4(INF2):c.1887+9G>A rs763172535 0.00001
NM_022489.4(INF2):c.1899C>T (p.Leu633=) rs763044552 0.00001
NM_022489.4(INF2):c.1956C>T (p.Asn652=) rs767304781 0.00001
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp) rs1047172155 0.00001
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp) rs1378876029 0.00001
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766 0.00001
NM_022489.4(INF2):c.2004T>C (p.Asp668=) rs750326369 0.00001
NM_022489.4(INF2):c.2052+14C>T rs764509188 0.00001
NM_022489.4(INF2):c.2090A>T (p.Lys697Met) rs1256555211 0.00001
NM_022489.4(INF2):c.2103C>T (p.Ala701=) rs369998116 0.00001
NM_022489.4(INF2):c.2128G>C (p.Ala710Pro) rs373806518 0.00001
NM_022489.4(INF2):c.2138+13G>A rs758122662 0.00001
NM_022489.4(INF2):c.2150G>A (p.Arg717Gln) rs769493931 0.00001
NM_022489.4(INF2):c.2166G>A (p.Leu722=) rs1243602670 0.00001
NM_022489.4(INF2):c.2180C>T (p.Ala727Val) rs1156240396 0.00001
NM_022489.4(INF2):c.2188G>A (p.Val730Met) rs373199310 0.00001
NM_022489.4(INF2):c.2235C>T (p.Cys745=) rs1439820692 0.00001
NM_022489.4(INF2):c.2239+9G>A rs1413571611 0.00001
NM_022489.4(INF2):c.2240-9C>T rs759780715 0.00001
NM_022489.4(INF2):c.2255G>A (p.Arg752His) rs1450593874 0.00001
NM_022489.4(INF2):c.229C>T (p.Leu77=) rs1409863695 0.00001
NM_022489.4(INF2):c.2301C>T (p.Phe767=) rs900191744 0.00001
NM_022489.4(INF2):c.2310+8A>T rs76748095 0.00001
NM_022489.4(INF2):c.2310_2310+2dup rs1424859343 0.00001
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr) rs774280485 0.00001
NM_022489.4(INF2):c.2328C>T (p.Asp776=) rs771802606 0.00001
NM_022489.4(INF2):c.232C>T (p.Leu78=) rs1417873293 0.00001
NM_022489.4(INF2):c.2390G>A (p.Arg797His) rs200261709 0.00001
NM_022489.4(INF2):c.2415G>A (p.Leu805=) rs779751728 0.00001
NM_022489.4(INF2):c.2418+20G>A rs1470076316 0.00001
NM_022489.4(INF2):c.2419-15C>T rs777686885 0.00001
NM_022489.4(INF2):c.2419-7A>G rs749487696 0.00001
NM_022489.4(INF2):c.2489+13T>C rs757174695 0.00001
NM_022489.4(INF2):c.2490-15C>A rs775068618 0.00001
NM_022489.4(INF2):c.2491A>T (p.Ile831Phe) rs751004003 0.00001
NM_022489.4(INF2):c.2550C>T (p.Thr850=) rs771112980 0.00001
NM_022489.4(INF2):c.2551G>A (p.Glu851Lys) rs776939784 0.00001
NM_022489.4(INF2):c.2553G>A (p.Glu851=) rs368901958 0.00001
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys) rs376094545 0.00001
NM_022489.4(INF2):c.2585A>G (p.Gln862Arg) rs1471229828 0.00001
NM_022489.4(INF2):c.2595C>T (p.Tyr865=) rs1244556036 0.00001
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala) rs753660816 0.00001
NM_022489.4(INF2):c.2598C>T (p.Thr866=) rs552110857 0.00001
NM_022489.4(INF2):c.2602C>T (p.Arg868Cys) rs757230162 0.00001
NM_022489.4(INF2):c.2603G>A (p.Arg868His) rs369698920 0.00001
NM_022489.4(INF2):c.2611-11C>T rs760253897 0.00001
NM_022489.4(INF2):c.2611-12C>T rs1057522725 0.00001
NM_022489.4(INF2):c.2611-7C>T rs770565682 0.00001
NM_022489.4(INF2):c.261C>T (p.Arg87=) rs761111655 0.00001
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp) rs762706488 0.00001
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) rs1314746427 0.00001
NM_022489.4(INF2):c.2670A>G (p.Gln890=) rs1890119204 0.00001
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp) rs926222455 0.00001
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) rs777498088 0.00001
NM_022489.4(INF2):c.2673G>A (p.Arg891=) rs938468023 0.00001
NM_022489.4(INF2):c.2701G>A (p.Ala901Thr) rs775349897 0.00001
NM_022489.4(INF2):c.2727G>A (p.Thr909=) rs1221995675 0.00001
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr) rs774099930 0.00001
NM_022489.4(INF2):c.2769C>T (p.Ala923=) rs370426339 0.00001
NM_022489.4(INF2):c.276C>T (p.Ile92=) rs201652529 0.00001
NM_022489.4(INF2):c.2775+12C>T rs200236783 0.00001
NM_022489.4(INF2):c.2775+16G>A rs753203154 0.00001
NM_022489.4(INF2):c.2776-5T>C rs1442200771 0.00001
NM_022489.4(INF2):c.2839G>A (p.Glu947Lys) rs1182433339 0.00001
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp) rs1243295333 0.00001
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala) rs1473555311 0.00001
NM_022489.4(INF2):c.2849G>A (p.Arg950Gln) rs978406474 0.00001
NM_022489.4(INF2):c.2851C>A (p.Arg951=) rs1404467783 0.00001
NM_022489.4(INF2):c.2852G>A (p.Arg951Gln) rs376506149 0.00001
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.2868C>T (p.Asp956=) rs748088770 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.2879-20G>C rs879254306 0.00001
NM_022489.4(INF2):c.2879-3C>T rs757145852 0.00001
NM_022489.4(INF2):c.2879-5C>T rs746770947 0.00001
NM_022489.4(INF2):c.2908G>A (p.Val970Met) rs977752085 0.00001
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser) rs776214674 0.00001
NM_022489.4(INF2):c.2928G>A (p.Leu976=) rs759214741 0.00001
NM_022489.4(INF2):c.2942G>A (p.Arg981Lys) rs764912111 0.00001
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln) rs757988412 0.00001
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile) rs377414980 0.00001
NM_022489.4(INF2):c.2988C>T (p.Thr996=) rs1047869757 0.00001
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592 0.00001
NM_022489.4(INF2):c.3037C>A (p.Pro1013Thr) rs1389268909 0.00001
NM_022489.4(INF2):c.3040+13C>T rs770337742 0.00001
NM_022489.4(INF2):c.3041-3C>T rs1157403781 0.00001
NM_022489.4(INF2):c.3041-4C>T rs945997134 0.00001
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser) rs1249757355 0.00001
NM_022489.4(INF2):c.3054C>T (p.Asn1018=) rs983208436 0.00001
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg) rs762689516 0.00001
NM_022489.4(INF2):c.3083G>A (p.Arg1028His) rs1368908308 0.00001
NM_022489.4(INF2):c.3090C>T (p.Pro1030=) rs1306938117 0.00001
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp) rs751648279 0.00001
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala) rs1316234873 0.00001
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile) rs746392134 0.00001
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414 0.00001
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys) rs958862615 0.00001
NM_022489.4(INF2):c.3165C>T (p.Pro1055=) rs766456624 0.00001
NM_022489.4(INF2):c.3170C>G (p.Pro1057Arg) rs1407364340 0.00001
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala) rs202244190 0.00001
NM_022489.4(INF2):c.3224G>A (p.Arg1075His) rs370169829 0.00001
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=) rs771664996 0.00001
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn) rs557741807 0.00001
NM_022489.4(INF2):c.3305C>T (p.Pro1102Leu) rs779176784 0.00001
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro) rs1212327132 0.00001
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr) rs200246759 0.00001
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg) rs775116734 0.00001
NM_022489.4(INF2):c.3405G>A (p.Thr1135=) rs766390722 0.00001
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) rs759925463 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.3462C>T (p.Asp1154=) rs1436685876 0.00001
NM_022489.4(INF2):c.3475C>T (p.Arg1159Cys) rs564510154 0.00001
NM_022489.4(INF2):c.3494C>T (p.Ala1165Val) rs771044828 0.00001
NM_022489.4(INF2):c.3501C>A (p.Gly1167=) rs776977547 0.00001
NM_022489.4(INF2):c.3509G>A (p.Gly1170Glu) rs776092624 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3537G>A (p.Thr1179=) rs758215424 0.00001
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys) rs1064796974 0.00001
NM_022489.4(INF2):c.3597C>T (p.Thr1199=) rs1160360427 0.00001
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu) rs751351877 0.00001
NM_022489.4(INF2):c.3624C>T (p.Pro1208=) rs1387927318 0.00001
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro) rs754128326 0.00001
NM_022489.4(INF2):c.368G>A (p.Gly123Asp) rs994483790 0.00001
NM_022489.4(INF2):c.3712G>A (p.Asp1238Asn) rs1290467030 0.00001
NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro) rs761808106 0.00001
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser) rs555680535 0.00001
NM_022489.4(INF2):c.391+14T>C rs1224355789 0.00001
NM_022489.4(INF2):c.392-14C>T rs374558300 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.410T>G (p.Val137Gly) rs760611306 0.00001
NM_022489.4(INF2):c.475G>A (p.Val159Met) rs781188543 0.00001
NM_022489.4(INF2):c.489C>T (p.Asp163=) rs769080446 0.00001
NM_022489.4(INF2):c.508-10C>T rs568890039 0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met) rs767698763 0.00001
NM_022489.4(INF2):c.516C>T (p.Cys172=) rs1346247579 0.00001
NM_022489.4(INF2):c.549C>T (p.Asn183=) rs1555373624 0.00001
NM_022489.4(INF2):c.559G>A (p.Gly187Ser) rs772603803 0.00001
NM_022489.4(INF2):c.570C>T (p.Asn190=) rs200662352 0.00001
NM_022489.4(INF2):c.571G>A (p.Val191Met) rs1416500072 0.00001
NM_022489.4(INF2):c.579C>T (p.Tyr193=) rs986330062 0.00001
NM_022489.4(INF2):c.610G>A (p.Val204Ile) rs1049200069 0.00001
NM_022489.4(INF2):c.624C>T (p.Pro208=) rs750610272 0.00001
NM_022489.4(INF2):c.634C>T (p.Arg212Cys) rs748481552 0.00001
NM_022489.4(INF2):c.636C>T (p.Arg212=) rs373383463 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.667+11G>A rs989845957 0.00001
NM_022489.4(INF2):c.667G>A (p.Gly223Arg) rs1209201341 0.00001
NM_022489.4(INF2):c.695G>A (p.Arg232His) rs767940514 0.00001
NM_022489.4(INF2):c.706C>G (p.Leu236Val) rs774921607 0.00001
NM_022489.4(INF2):c.717C>T (p.Ala239=) rs750808868 0.00001
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755 0.00001
NM_022489.4(INF2):c.745G>A (p.Glu249Lys) rs375843743 0.00001
NM_022489.4(INF2):c.765C>T (p.Asp255=) rs758423191 0.00001
NM_022489.4(INF2):c.76A>C (p.Thr26Pro) rs1889488972 0.00001
NM_022489.4(INF2):c.782G>A (p.Arg261Gln) rs749543418 0.00001
NM_022489.4(INF2):c.787T>G (p.Ser263Ala) rs1364540701 0.00001
NM_022489.4(INF2):c.792C>T (p.Gly264=) rs768718406 0.00001
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038 0.00001
NM_022489.4(INF2):c.807C>T (p.Ser269=) rs1889769993 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_022489.4(INF2):c.844-11C>T rs1413093278 0.00001
NM_022489.4(INF2):c.850T>C (p.Cys284Arg) rs374935145 0.00001
NM_022489.4(INF2):c.858G>A (p.Pro286=) rs762527373 0.00001
NM_022489.4(INF2):c.986-14A>G rs774186716 0.00001
NM_022489.4(INF2):c.986-9C>G rs761206810 0.00001
NM_022489.4(INF2):c.990G>A (p.Gln330=) rs1454095905 0.00001
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105167703)_(105213340_?)dup
NC_000014.8:g.(?_105167703)_(105861009_?)del
NC_000014.8:g.(?_105172352)_(105181676_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_104701356)_(104703963_?)del
NM_022489.4(INF2):c.1005G>A (p.Glu335=)
NM_022489.4(INF2):c.1010T>A (p.Val337Glu)
NM_022489.4(INF2):c.1018C>A (p.Arg340=)
NM_022489.4(INF2):c.1020G>T (p.Arg340=)
NM_022489.4(INF2):c.102C>T (p.Asp34=) rs2140638234
NM_022489.4(INF2):c.1039C>T (p.Arg347Ter) rs2140666903
NM_022489.4(INF2):c.1044C>T (p.Pro348=)
NM_022489.4(INF2):c.1049C>A (p.Pro350Gln)
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg) rs1889825135
NM_022489.4(INF2):c.1063_1080dup (p.Val360_Gln361insLysAlaHisLysSerVal)
NM_022489.4(INF2):c.1076G>A (p.Ser359Asn)
NM_022489.4(INF2):c.1077C>T (p.Ser359=)
NM_022489.4(INF2):c.1093G>A (p.Asp365Asn)
NM_022489.4(INF2):c.1095C>A (p.Asp365Glu) rs2140667164
NM_022489.4(INF2):c.1101C>T (p.Ser367=) rs1447003375
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly) rs1889828741
NM_022489.4(INF2):c.1110C>A (p.Gly370=) rs2140667246
NM_022489.4(INF2):c.1111A>G (p.Ser371Gly)
NM_022489.4(INF2):c.111G>A (p.Leu37=)
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1128T>C (p.Thr376=)
NM_022489.4(INF2):c.1133C>A (p.Thr378Asn)
NM_022489.4(INF2):c.1177G>A (p.Ala393Thr)
NM_022489.4(INF2):c.1177G>C (p.Ala393Pro) rs2140667487
NM_022489.4(INF2):c.1183G>C (p.Glu395Gln) rs374769850
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala) rs1416561484
NM_022489.4(INF2):c.1188C>G (p.Pro396=) rs747696039
NM_022489.4(INF2):c.1188C>T (p.Pro396=) rs747696039
NM_022489.4(INF2):c.1193A>G (p.Asp398Gly)
NM_022489.4(INF2):c.119G>C (p.Arg40Pro) rs1437016055
NM_022489.4(INF2):c.1211G>T (p.Ser404Ile) rs759535604
NM_022489.4(INF2):c.1217_1228del (p.Leu406_Ser409del)
NM_022489.4(INF2):c.1224T>C (p.Val408=) rs2140667715
NM_022489.4(INF2):c.1225T>A (p.Ser409Thr)
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu) rs1486781241
NM_022489.4(INF2):c.1227G>A (p.Ser409=) rs3809455
NM_022489.4(INF2):c.1228_1229insCCAGAGTGAG (p.Gln410fs) rs2140667760
NM_022489.4(INF2):c.1237G>A (p.Ala413Thr)
NM_022489.4(INF2):c.1239C>T (p.Ala413=)
NM_022489.4(INF2):c.1243G>A (p.Glu415Lys)
NM_022489.4(INF2):c.1253C>T (p.Ala418Val)
NM_022489.4(INF2):c.1254G>C (p.Ala418=) rs1370627984
NM_022489.4(INF2):c.1257C>T (p.Ser419=)
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[2] (p.Pro425_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1262CACCCC[6] (p.Pro428_Leu429insProProProPro)
NM_022489.4(INF2):c.1268C>A (p.Pro423Gln)
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu) rs1263040681
NM_022489.4(INF2):c.1270C>G (p.Pro424Ala)
NM_022489.4(INF2):c.1275_1286del (p.Pro426_Leu429del)
NM_022489.4(INF2):c.1276C>A (p.Pro426Thr) rs766635668
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu) rs1889838927
NM_022489.4(INF2):c.1286del (p.Leu429fs)
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del) rs1566781602
NM_022489.4(INF2):c.1298C>G (p.Ser433Cys) rs2140668383
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp) rs1566781633
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1314TCCCCC[1] (p.Pro444_Pro445del) rs980563049
NM_022489.4(INF2):c.1314TCCCCC[3] (p.Pro445_Leu446insProPro)
NM_022489.4(INF2):c.1325C>T (p.Pro442Leu)
NM_022489.4(INF2):c.1332C>G (p.Pro444=)
NM_022489.4(INF2):c.1335C>G (p.Pro445=) rs1306481005
NM_022489.4(INF2):c.1335C>T (p.Pro445=) rs1306481005
NM_022489.4(INF2):c.1336dup (p.Leu446fs) rs1278804782
NM_022489.4(INF2):c.1337T>C (p.Leu446Pro)
NM_022489.4(INF2):c.1341C>T (p.Pro447=)
NM_022489.4(INF2):c.1347G>A (p.Val449=)
NM_022489.4(INF2):c.1348G>A (p.Gly450Arg) rs572969666
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg) rs572969666
NM_022489.4(INF2):c.134C>T (p.Pro45Leu)
NM_022489.4(INF2):c.1353T>C (p.Ala451=) rs1889845267
NM_022489.4(INF2):c.1366A>G (p.Thr456Ala)
NM_022489.4(INF2):c.1376C>T (p.Pro459Leu)
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del) rs1443005224
NM_022489.4(INF2):c.1379C>G (p.Pro460Arg)
NM_022489.4(INF2):c.137C>T (p.Ser46Phe) rs1889493279
NM_022489.4(INF2):c.1380C>G (p.Pro460=) rs1889847537
NM_022489.4(INF2):c.1380C>T (p.Pro460=) rs1889847537
NM_022489.4(INF2):c.1381C>T (p.Pro461Ser)
NM_022489.4(INF2):c.1382C>A (p.Pro461Gln)
NM_022489.4(INF2):c.1386C>T (p.Pro462=)
NM_022489.4(INF2):c.1389G>T (p.Leu463=) rs1250341042
NM_022489.4(INF2):c.1391C>G (p.Pro464Arg)
NM_022489.4(INF2):c.1396_1446dup (p.Leu466_Gly482dup) rs1566781794
NM_022489.4(INF2):c.1406T>C (p.Met469Thr) rs1889849217
NM_022489.4(INF2):c.1411C>G (p.Pro471Ala)
NM_022489.4(INF2):c.1415del (p.Pro472fs) rs2140669082
NM_022489.4(INF2):c.1419A>T (p.Ala473=) rs1595171333
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1435C>A (p.Pro479Thr)
NM_022489.4(INF2):c.1440_1441delinsTT (p.Pro481Ser)
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu) rs1438965620
NM_022489.4(INF2):c.1473T>A (p.Pro491=) rs1595171430
NM_022489.4(INF2):c.1474C>T (p.Pro492Ser)
NM_022489.4(INF2):c.1476A>T (p.Pro492=) rs1595171436
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.1493G>T (p.Gly498Val) rs2140669360
NM_022489.4(INF2):c.14A>T (p.Glu5Val)
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.4(INF2):c.1511C>A (p.Pro504Gln)
NM_022489.4(INF2):c.1512A>G (p.Pro504=) rs774032439
NM_022489.4(INF2):c.1515C>G (p.Pro505=)
NM_022489.4(INF2):c.1517T>G (p.Leu506Arg) rs1160363735
NM_022489.4(INF2):c.1518G>C (p.Leu506=) rs1393144870
NM_022489.4(INF2):c.1524T>G (p.Pro508=)
NM_022489.4(INF2):c.1526G>A (p.Gly509Asp)
NM_022489.4(INF2):c.1528A>G (p.Met510Val)
NM_022489.4(INF2):c.1540C>A (p.Pro514Thr)
NM_022489.4(INF2):c.1542T>G (p.Pro514=)
NM_022489.4(INF2):c.1554A>G (p.Pro518=) rs1192390422
NM_022489.4(INF2):c.1555C>A (p.Pro519Thr)
NM_022489.4(INF2):c.1557T>C (p.Pro519=)
NM_022489.4(INF2):c.1567C>T (p.Pro523Ser)
NM_022489.4(INF2):c.1569C>T (p.Pro523=)
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser) rs2140669651
NM_022489.4(INF2):c.1576T>A (p.Cys526Ser)
NM_022489.4(INF2):c.1579A>C (p.Ser527Arg)
NM_022489.4(INF2):c.1581C>T (p.Ser527=) rs928182488
NM_022489.4(INF2):c.1582C>A (p.Pro528Thr) rs181694819
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1585C>A (p.Pro529Thr) rs1052608799
NM_022489.4(INF2):c.1587dup (p.Val530fs) rs748929807
NM_022489.4(INF2):c.1594G>A (p.Gly532Arg)
NM_022489.4(INF2):c.1599C>T (p.Gly533=) rs1889860666
NM_022489.4(INF2):c.1603G>C (p.Glu535Gln) rs2140669798
NM_022489.4(INF2):c.1604AGG[1] (p.Glu536del)
NM_022489.4(INF2):c.1618G>A (p.Ala540Thr)
NM_022489.4(INF2):c.1624G>A (p.Val542Met) rs1271026146
NM_022489.4(INF2):c.1625T>C (p.Val542Ala) rs1467920811
NM_022489.4(INF2):c.1634G>T (p.Gly545Val)
NM_022489.4(INF2):c.1664G>A (p.Arg555Gln)
NM_022489.4(INF2):c.1674C>A (p.Asn558Lys)
NM_022489.4(INF2):c.1683A>G (p.Thr561=) rs1595171811
NM_022489.4(INF2):c.1687C>T (p.Arg563Cys)
NM_022489.4(INF2):c.168C>A (p.Arg56=) rs2140638425
NM_022489.4(INF2):c.1698G>A (p.Lys566=)
NM_022489.4(INF2):c.1699C>T (p.Leu567=) rs2140670155
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.1710G>C (p.Gln570His) rs2140670180
NM_022489.4(INF2):c.1716G>C (p.Leu572=) rs780141010
NM_022489.4(INF2):c.1733G>A (p.Arg578His)
NM_022489.4(INF2):c.1735+16C>T
NM_022489.4(INF2):c.1735+18C>A
NM_022489.4(INF2):c.1735+1G>A rs2140670271
NM_022489.4(INF2):c.1735+5G>A
NM_022489.4(INF2):c.1736-18C>G rs199612826
NM_022489.4(INF2):c.1736-5G>A
NM_022489.4(INF2):c.1736-9_1736-7dup rs2140671935
NM_022489.4(INF2):c.1736A>G (p.Glu579Gly) rs2140671973
NM_022489.4(INF2):c.1746T>C (p.Ser582=)
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr) rs530285485
NM_022489.4(INF2):c.1780G>C (p.Ala594Pro)
NM_022489.4(INF2):c.1794_1801dup (p.Ser601fs)
NM_022489.4(INF2):c.17G>T (p.Gly6Val)
NM_022489.4(INF2):c.1812A>T (p.Arg604=)
NM_022489.4(INF2):c.181G>C (p.Asp61His) rs1410857502
NM_022489.4(INF2):c.1824C>G (p.Phe608Leu)
NM_022489.4(INF2):c.1833C>T (p.Ala611=) rs2140672219
NM_022489.4(INF2):c.1849A>G (p.Thr617Ala) rs2140672247
NM_022489.4(INF2):c.1852A>T (p.Met618Leu)
NM_022489.4(INF2):c.1859C>T (p.Ala620Val)
NM_022489.4(INF2):c.1860C>T (p.Ala620=)
NM_022489.4(INF2):c.1864C>T (p.Arg622Trp)
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
NM_022489.4(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.4(INF2):c.1870A>T (p.Arg624Trp)
NM_022489.4(INF2):c.1879C>A (p.Pro627Thr)
NM_022489.4(INF2):c.1888-10G>T
NM_022489.4(INF2):c.1888-16G>A
NM_022489.4(INF2):c.1888-16G>T
NM_022489.4(INF2):c.1888-8T>G rs889481678
NM_022489.4(INF2):c.1888-9G>A
NM_022489.4(INF2):c.188G>A (p.Gly63Asp) rs990960028
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del) rs1889495846
NM_022489.4(INF2):c.1892C>T (p.Thr631Ile) rs1595172697
NM_022489.4(INF2):c.1894T>C (p.Phe632Leu)
NM_022489.4(INF2):c.1900G>A (p.Asp634Asn)
NM_022489.4(INF2):c.1902T>A (p.Asp634Glu)
NM_022489.4(INF2):c.1905C>A (p.Ala635=)
NM_022489.4(INF2):c.1906A>C (p.Lys636Gln) rs1889898227
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg) rs761939643
NM_022489.4(INF2):c.1911G>A (p.Lys637=) rs1595172720
NM_022489.4(INF2):c.1912A>T (p.Ser638Cys)
NM_022489.4(INF2):c.1913G>A (p.Ser638Asn)
NM_022489.4(INF2):c.1914C>G (p.Ser638Arg)
NM_022489.4(INF2):c.1921C>T (p.Leu641Phe)
NM_022489.4(INF2):c.1932C>G (p.Phe644Leu) rs966287674
NM_022489.4(INF2):c.1935G>A (p.Leu645=)
NM_022489.4(INF2):c.1942T>G (p.Phe648Val)
NM_022489.4(INF2):c.1943T>A (p.Phe648Tyr)
NM_022489.4(INF2):c.1949+10G>A rs1342614480
NM_022489.4(INF2):c.1949+1G>A
NM_022489.4(INF2):c.1949+7G>A rs757853615
NM_022489.4(INF2):c.1950-10C>A rs199987321
NM_022489.4(INF2):c.1950-11C>T
NM_022489.4(INF2):c.1950-13C>T
NM_022489.4(INF2):c.1950-15C>T
NM_022489.4(INF2):c.1950-19G>A
NM_022489.4(INF2):c.1950-20C>G
NM_022489.4(INF2):c.1950-20C>T rs370726873
NM_022489.4(INF2):c.1950-4C>G rs539363877
NM_022489.4(INF2):c.1950-4C>T rs539363877
NM_022489.4(INF2):c.1953C>T (p.Ser651=)
NM_022489.4(INF2):c.1958A>G (p.Glu653Gly) rs2140675983
NM_022489.4(INF2):c.1967C>G (p.Ala656Gly)
NM_022489.4(INF2):c.2008G>T (p.Glu670Ter)
NM_022489.4(INF2):c.200A>G (p.Gln67Arg)
NM_022489.4(INF2):c.2010G>A (p.Glu670=) rs1271047216
NM_022489.4(INF2):c.2023C>G (p.Leu675Val)
NM_022489.4(INF2):c.2023C>T (p.Leu675Phe)
NM_022489.4(INF2):c.2050G>A (p.Glu684Lys)
NM_022489.4(INF2):c.2052+12A>G rs1342540362
NM_022489.4(INF2):c.2052+16C>T
NM_022489.4(INF2):c.2052+17del
NM_022489.4(INF2):c.2052+19C>T
NM_022489.4(INF2):c.2052+3A>G rs1382855956
NM_022489.4(INF2):c.2053-17C>T
NM_022489.4(INF2):c.2053-19G>A rs2140677593
NM_022489.4(INF2):c.2053-4G>T
NM_022489.4(INF2):c.205C>T (p.Leu69=)
NM_022489.4(INF2):c.2065C>A (p.Arg689=) rs781255309
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
NM_022489.4(INF2):c.2066G>A (p.Arg689Gln)
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly) rs769120676
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
NM_022489.4(INF2):c.2093T>C (p.Leu698Pro) rs1889952154
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.2100C>T (p.Ser700=) rs377281840
NM_022489.4(INF2):c.2104G>A (p.Asp702Asn)
NM_022489.4(INF2):c.210_224dup (p.Glu70_Leu74dup) rs1889497296
NM_022489.4(INF2):c.2118C>T (p.Leu706=) rs1595173916
NM_022489.4(INF2):c.2122C>A (p.Leu708Met)
NM_022489.4(INF2):c.2128G>A (p.Ala710Thr) rs373806518
NM_022489.4(INF2):c.2138+10dup rs1301032347
NM_022489.4(INF2):c.2138+4A>G
NM_022489.4(INF2):c.2139-12T>G rs2140679527
NM_022489.4(INF2):c.2139-4C>T rs1595174339
NM_022489.4(INF2):c.2145G>A (p.Gln715=) rs1228218526
NM_022489.4(INF2):c.2146C>T (p.Leu716=) rs1889974020
NM_022489.4(INF2):c.2174A>C (p.Glu725Ala) rs1889975115
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.218G>A (p.Gly73Asp)
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.2197A>T (p.Met733Leu)
NM_022489.4(INF2):c.219C>T (p.Gly73=) rs2140638628
NM_022489.4(INF2):c.2203C>T (p.Arg735Trp)
NM_022489.4(INF2):c.2206C>T (p.Pro736Ser)
NM_022489.4(INF2):c.220C>G (p.Leu74Val)
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.2226G>A (p.Leu742=)
NM_022489.4(INF2):c.2238A>C (p.Glu746Asp)
NM_022489.4(INF2):c.2239+20G>T
NM_022489.4(INF2):c.2240-11T>C rs2140682757
NM_022489.4(INF2):c.2240-16C>T
NM_022489.4(INF2):c.2240-19G>A
NM_022489.4(INF2):c.2240-7C>T rs374969245
NM_022489.4(INF2):c.2240-8C>T rs1216523445
NM_022489.4(INF2):c.2247C>T (p.Leu749=) rs2140682785
NM_022489.4(INF2):c.2253C>T (p.Ser751=) rs2140682802
NM_022489.4(INF2):c.2264C>G (p.Pro755Arg)
NM_022489.4(INF2):c.2268C>T (p.Ile756=)
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del) rs1889499325
NM_022489.4(INF2):c.2277G>A (p.Gln759=) rs1198982780
NM_022489.4(INF2):c.2288G>A (p.Arg763Lys)
NM_022489.4(INF2):c.228G>C (p.Leu76=)
NM_022489.4(INF2):c.2295G>A (p.Gly765=) rs2140682892
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.2310+12del rs752651194
NM_022489.4(INF2):c.2310+7del rs759540621
NM_022489.4(INF2):c.2311-13C>G
NM_022489.4(INF2):c.2311-3del
NM_022489.4(INF2):c.2311-9C>A rs1890025610
NM_022489.4(INF2):c.2325T>C (p.Gly775=) rs1595175625
NM_022489.4(INF2):c.2331C>T (p.Ala777=)
NM_022489.4(INF2):c.2332G>A (p.Asp778Asn)
NM_022489.4(INF2):c.2334C>T (p.Asp778=)
NM_022489.4(INF2):c.233T>A (p.Leu78Gln) rs1889500121
NM_022489.4(INF2):c.2349C>T (p.Ser783=)
NM_022489.4(INF2):c.2355G>A (p.Leu785=)
NM_022489.4(INF2):c.2391C>T (p.Arg797=)
NM_022489.4(INF2):c.2392G>A (p.Val798Met) rs752048486
NM_022489.4(INF2):c.2397G>A (p.Thr799=)
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg) rs1890029024
NM_022489.4(INF2):c.2418+16G>C
NM_022489.4(INF2):c.2418+16G>T rs773186603
NM_022489.4(INF2):c.2418+17G>A
NM_022489.4(INF2):c.2418+19G>C rs770701500
NM_022489.4(INF2):c.2418+20G>T rs1470076316
NM_022489.4(INF2):c.2418+7C>T
NM_022489.4(INF2):c.2418+9T>C
NM_022489.4(INF2):c.2419-12G>A
NM_022489.4(INF2):c.2419-12G>T rs369283834
NM_022489.4(INF2):c.2419-19T>A rs1890051019
NM_022489.4(INF2):c.2419-5T>C
NM_022489.4(INF2):c.2436C>G (p.His812Gln)
NM_022489.4(INF2):c.2439C>T (p.Pro813=) rs543495305
NM_022489.4(INF2):c.2469A>G (p.Glu823=) rs2140685910
NM_022489.4(INF2):c.246G>A (p.Ala82=) rs377173164
NM_022489.4(INF2):c.2489+16C>T
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala) rs377340315
NM_022489.4(INF2):c.2490-13C>G
NM_022489.4(INF2):c.2490-17C>T
NM_022489.4(INF2):c.2490-18G>A
NM_022489.4(INF2):c.2490-8C>T rs977001355
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr) rs767351070
NM_022489.4(INF2):c.2511C>T (p.Arg837=) rs1595177417
NM_022489.4(INF2):c.2517G>A (p.Glu839=) rs561061092
NM_022489.4(INF2):c.251T>C (p.Leu84Pro) rs1889501966
NM_022489.4(INF2):c.2523C>A (p.Ser841Arg)
NM_022489.4(INF2):c.2523C>T (p.Ser841=) rs1890100793
NM_022489.4(INF2):c.2524T>C (p.Ser842Pro)
NM_022489.4(INF2):c.2530C>T (p.Leu844=)
NM_022489.4(INF2):c.2533A>C (p.Lys845Gln)
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn) rs1890101375
NM_022489.4(INF2):c.2541T>G (p.Leu847=)
NM_022489.4(INF2):c.2554C>T (p.Arg852Trp)
NM_022489.4(INF2):c.255G>A (p.Ser85=) rs369037445
NM_022489.4(INF2):c.255G>C (p.Ser85=) rs369037445
NM_022489.4(INF2):c.2571C>G (p.Ser857=) rs62640005
NM_022489.4(INF2):c.2574G>A (p.Val858=) rs371768502
NM_022489.4(INF2):c.257G>T (p.Gly86Val) rs1566777637
NM_022489.4(INF2):c.2589G>A (p.Glu863=) rs1595177530
NM_022489.4(INF2):c.258C>T (p.Gly86=)
NM_022489.4(INF2):c.2598C>G (p.Thr866=) rs552110857
NM_022489.4(INF2):c.2599G>C (p.Glu867Gln) rs777850657
NM_022489.4(INF2):c.2610+15G>A rs746323324
NM_022489.4(INF2):c.2611-16G>A
NM_022489.4(INF2):c.2611-3_2766delinsA rs1890116449
NM_022489.4(INF2):c.2613C>G (p.Ala871=) rs2140692107
NM_022489.4(INF2):c.261_262dup (p.Gly88fs)
NM_022489.4(INF2):c.2621C>T (p.Ser874Leu)
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2625C>T (p.Ala875=)
NM_022489.4(INF2):c.262G>A (p.Gly88Ser) rs766891612
NM_022489.4(INF2):c.262G>T (p.Gly88Cys) rs766891612
NM_022489.4(INF2):c.2646G>A (p.Leu882=) rs1890118187
NM_022489.4(INF2):c.264C>G (p.Gly88=)
NM_022489.4(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.4(INF2):c.2664G>T (p.Gln888His)
NM_022489.4(INF2):c.2673G>C (p.Arg891=) rs938468023
NM_022489.4(INF2):c.2682C>A (p.Ala894=)
NM_022489.4(INF2):c.2684A>G (p.Asp895Gly) rs1890119751
NM_022489.4(INF2):c.2691G>C (p.Leu897=)
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe) rs1890119995
NM_022489.4(INF2):c.26G>C (p.Arg9Pro)
NM_022489.4(INF2):c.26G>T (p.Arg9Leu)
NM_022489.4(INF2):c.2709G>C (p.Gln903His) rs762803590
NM_022489.4(INF2):c.270A>T (p.Ala90=)
NM_022489.4(INF2):c.2714C>T (p.Ser905Phe)
NM_022489.4(INF2):c.271C>G (p.Arg91Gly) rs200247054
NM_022489.4(INF2):c.271C>T (p.Arg91Cys) rs200247054
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2726C>T (p.Thr909Met) rs201336550
NM_022489.4(INF2):c.272G>T (p.Arg91Leu)
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp) rs778308700
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs) rs1566785235
NM_022489.4(INF2):c.2768C>T (p.Ala923Val)
NM_022489.4(INF2):c.2775+11C>G
NM_022489.4(INF2):c.2775+6G>A rs2140693103
NM_022489.4(INF2):c.2776-15C>T
NM_022489.4(INF2):c.2776-20G>A rs763178910
NM_022489.4(INF2):c.2776-6G>A
NM_022489.4(INF2):c.2778G>C (p.Glu926Asp)
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.2788C>T (p.Arg930Trp)
NM_022489.4(INF2):c.2789G>T (p.Arg930Leu)
NM_022489.4(INF2):c.2805G>A (p.Ala935=)
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys) rs1595178511
NM_022489.4(INF2):c.281A>G (p.Asp94Gly) rs1889506126
NM_022489.4(INF2):c.283G>A (p.Ala95Thr)
NM_022489.4(INF2):c.2845G>A (p.Ala949Thr) rs2140695225
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly) rs912951002
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.2851C>T (p.Arg951Trp)
NM_022489.4(INF2):c.2855C>T (p.Pro952Leu)
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2858G>C (p.Arg953Pro)
NM_022489.4(INF2):c.285C>T (p.Ala95=)
NM_022489.4(INF2):c.2868C>G (p.Asp956Glu) rs748088770
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.2877T>C (p.Pro959=) rs1890143462
NM_022489.4(INF2):c.2878+13C>T
NM_022489.4(INF2):c.2878+14G>A
NM_022489.4(INF2):c.2878+19_2878+48dup
NM_022489.4(INF2):c.2879-8C>T
NM_022489.4(INF2):c.2888G>A (p.Gly963Glu)
NM_022489.4(INF2):c.2893G>T (p.Gly965Trp) rs370783381
NM_022489.4(INF2):c.2900AGG[2] (p.Glu969del)
NM_022489.4(INF2):c.2901G>A (p.Gln967=)
NM_022489.4(INF2):c.2904G>A (p.Glu968=) rs766775939
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys) rs1890151516
NM_022489.4(INF2):c.2906A>T (p.Glu969Val)
NM_022489.4(INF2):c.290T>G (p.Leu97Arg)
NM_022489.4(INF2):c.2910G>A (p.Val970=)
NM_022489.4(INF2):c.2919C>T (p.Ile973=)
NM_022489.4(INF2):c.291G>T (p.Leu97=) rs1334953478
NM_022489.4(INF2):c.2922T>C (p.Asp974=)
NM_022489.4(INF2):c.2938A>G (p.Ile980Val)
NM_022489.4(INF2):c.2942G>C (p.Arg981Thr)
NM_022489.4(INF2):c.2944A>G (p.Lys982Glu)
NM_022489.4(INF2):c.2959C>T (p.Arg987Trp) rs777407891
NM_022489.4(INF2):c.2973G>A (p.Arg991=) rs1890153381
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.4(INF2):c.2977C>T (p.Arg993Cys)
NM_022489.4(INF2):c.2978G>A (p.Arg993His)
NM_022489.4(INF2):c.2980G>A (p.Gly994Arg)
NM_022489.4(INF2):c.2982G>A (p.Gly994=) rs2140696493
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.4(INF2):c.2994_2996del (p.Gly999del)
NM_022489.4(INF2):c.2996dup (p.Ser1000fs) rs1566785725
NM_022489.4(INF2):c.3001A>G (p.Lys1001Glu)
NM_022489.4(INF2):c.300C>T (p.Thr100=) rs755925568
NM_022489.4(INF2):c.3036G>A (p.Glu1012=)
NM_022489.4(INF2):c.303C>T (p.Cys101=)
NM_022489.4(INF2):c.3040+18_3040+23dup
NM_022489.4(INF2):c.3040+19G>A
NM_022489.4(INF2):c.3040+19G>T
NM_022489.4(INF2):c.3040+7C>A rs370947072
NM_022489.4(INF2):c.3040+7C>T
NM_022489.4(INF2):c.3041-15T>C
NM_022489.4(INF2):c.3041-7C>T rs1283161160
NM_022489.4(INF2):c.304G>C (p.Val102Leu)
NM_022489.4(INF2):c.3059C>A (p.Ala1020Glu) rs368372551
NM_022489.4(INF2):c.306C>G (p.Val102=) rs748335660
NM_022489.4(INF2):c.3080C>G (p.Thr1027Arg)
NM_022489.4(INF2):c.3081G>A (p.Thr1027=)
NM_022489.4(INF2):c.308G>C (p.Ser103Thr)
NM_022489.4(INF2):c.3091G>A (p.Ala1031Thr)
NM_022489.4(INF2):c.3091G>C (p.Ala1031Pro) rs1050761365
NM_022489.4(INF2):c.3093C>T (p.Ala1031=)
NM_022489.4(INF2):c.3103G>C (p.Gly1035Arg) rs368995122
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.3119C>A (p.Thr1040Lys)
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly) rs770095888
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.3138C>T (p.Gly1046=)
NM_022489.4(INF2):c.3145C>A (p.Leu1049Ile)
NM_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_022489.4(INF2):c.3153C>A (p.Asp1051Glu) rs117457867
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
NM_022489.4(INF2):c.3156C>T (p.Ala1052=)
NM_022489.4(INF2):c.3159G>C (p.Val1053=)
NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
NM_022489.4(INF2):c.3174G>C (p.Gln1058His)
NM_022489.4(INF2):c.3179C>T (p.Thr1060Ile)
NM_022489.4(INF2):c.318C>T (p.Arg106=)
NM_022489.4(INF2):c.3195G>A (p.Glu1065=) rs1890194293
NM_022489.4(INF2):c.3198G>A (p.Glu1066=)
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser) rs1209329545
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp) rs1890195225
NM_022489.4(INF2):c.320_322del (p.Ala107del) rs1889509458
NM_022489.4(INF2):c.3214C>T (p.Leu1072=)
NM_022489.4(INF2):c.3219G>A (p.Glu1073=) rs2140700368
NM_022489.4(INF2):c.3228T>C (p.Ser1076=)
NM_022489.4(INF2):c.322del (p.Val108fs) rs2140639383
NM_022489.4(INF2):c.3236A>G (p.Tyr1079Cys)
NM_022489.4(INF2):c.3241G>C (p.Asp1081His) rs571986941
NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr)
NM_022489.4(INF2):c.3249C>T (p.Ser1083=)
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.325A>T (p.Met109Leu) rs1889510098
NM_022489.4(INF2):c.3261C>A (p.Thr1087=)
NM_022489.4(INF2):c.3269A>C (p.Asp1090Ala)
NM_022489.4(INF2):c.3271C>T (p.Pro1091Ser)
NM_022489.4(INF2):c.3300C>G (p.Ala1100=) rs755319597
NM_022489.4(INF2):c.3306G>A (p.Pro1102=)
NM_022489.4(INF2):c.3324T>A (p.Ala1108=)
NM_022489.4(INF2):c.3325C>T (p.Gln1109Ter)
NM_022489.4(INF2):c.3329C>A (p.Ala1110Asp) rs2140700719
NM_022489.4(INF2):c.332C>T (p.Ser111Leu)
NM_022489.4(INF2):c.333G>A (p.Ser111=)
NM_022489.4(INF2):c.3340C>G (p.Leu1114Val)
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_022489.4(INF2):c.3354C>T (p.Ser1118=)
NM_022489.4(INF2):c.3356A>G (p.Asn1119Ser)
NM_022489.4(INF2):c.3361C>T (p.Pro1121Ser) rs1248997686
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu) rs1422015907
NM_022489.4(INF2):c.3374G>C (p.Gly1125Ala)
NM_022489.4(INF2):c.3384G>C (p.Arg1128Ser)
NM_022489.4(INF2):c.338A>G (p.Gln113Arg) rs1889511010
NM_022489.4(INF2):c.338A>T (p.Gln113Leu)
NM_022489.4(INF2):c.3402C>G (p.Pro1134=)
NM_022489.4(INF2):c.3414G>T (p.Leu1138=)
NM_022489.4(INF2):c.3417C>T (p.Gly1139=) rs753095805
NM_022489.4(INF2):c.341G>A (p.Gly114Asp) rs1595164091
NM_022489.4(INF2):c.3423C>G (p.Leu1141=) rs1445826828
NM_022489.4(INF2):c.3429C>T (p.Ala1143=)
NM_022489.4(INF2):c.3439A>C (p.Ser1147Arg)
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly) rs1890205376
NM_022489.4(INF2):c.344T>G (p.Ile115Ser) rs2140639483
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala) rs1166494154
NM_022489.4(INF2):c.346G>A (p.Glu116Lys)
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly) rs1890207111
NM_022489.4(INF2):c.3474C>T (p.Ser1158=) rs1555375620
NM_022489.4(INF2):c.3488C>A (p.Pro1163His)
NM_022489.4(INF2):c.3489C>T (p.Pro1163=)
NM_022489.4(INF2):c.34G>A (p.Ala12Thr) rs201814557
NM_022489.4(INF2):c.3501C>T (p.Gly1167=)
NM_022489.4(INF2):c.3511G>T (p.Asp1171Tyr)
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2]) rs748373029
NM_022489.4(INF2):c.3536C>T (p.Thr1179Met)
NM_022489.4(INF2):c.3538G>T (p.Ala1180Ser) rs1890210294
NM_022489.4(INF2):c.3540C>A (p.Ala1180=) rs1890210440
NM_022489.4(INF2):c.3546G>A (p.Glu1182=) rs1890210806
NM_022489.4(INF2):c.3549C>T (p.Ser1183=) rs1890210863
NM_022489.4(INF2):c.3553C>T (p.Leu1185=)
NM_022489.4(INF2):c.3555G>A (p.Leu1185=)
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys) rs201715539
NM_022489.4(INF2):c.3568G>A (p.Asp1190Asn)
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.4(INF2):c.3583G>C (p.Glu1195Gln) rs1064796974
NM_022489.4(INF2):c.3585G>A (p.Glu1195=) rs569502255
NM_022489.4(INF2):c.3591G>C (p.Ala1197=)
NM_022489.4(INF2):c.3591G>T (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn) rs764338863
NM_022489.4(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.4(INF2):c.3603C>T (p.Ser1201=) rs2140701770
NM_022489.4(INF2):c.3604T>C (p.Ser1202Pro) rs1890213193
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp) rs956685612
NM_022489.4(INF2):c.3618A>G (p.Thr1206=)
NM_022489.4(INF2):c.3618A>T (p.Thr1206=) rs748717940
NM_022489.4(INF2):c.3623C>T (p.Pro1208Leu)
NM_022489.4(INF2):c.3632G>A (p.Arg1211Gln) rs754263906
NM_022489.4(INF2):c.3632G>T (p.Arg1211Leu) rs754263906
NM_022489.4(INF2):c.3633G>A (p.Arg1211=) rs1293384292
NM_022489.4(INF2):c.3636C>T (p.Gly1212=)
NM_022489.4(INF2):c.363C>T (p.Asn121=) rs1174416960
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs) rs762985148
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.364C>G (p.Gln122Glu) rs1428719320
NM_022489.4(INF2):c.3654C>G (p.Thr1218=) rs557462297
NM_022489.4(INF2):c.365A>G (p.Gln122Arg)
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln) rs754128326
NM_022489.4(INF2):c.3665G>A (p.Arg1222Lys)
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys) rs779017318
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
NM_022489.4(INF2):c.3694+12_3694+15del rs766461452
NM_022489.4(INF2):c.3694+18C>T rs1311828298
NM_022489.4(INF2):c.3694+5C>T rs1890217788
NM_022489.4(INF2):c.3694+8A>C rs1595180626
NM_022489.4(INF2):c.3694+8_3694+9del
NM_022489.4(INF2):c.3695-10T>C
NM_022489.4(INF2):c.3695-18T>G
NM_022489.4(INF2):c.3695-4G>C rs757575999
NM_022489.4(INF2):c.3698T>A (p.Val1233Asp)
NM_022489.4(INF2):c.369del (p.Tyr124fs)
NM_022489.4(INF2):c.3700C>T (p.Pro1234Ser) rs2140703863
NM_022489.4(INF2):c.3709T>A (p.Ser1237Thr)
NM_022489.4(INF2):c.3709del (p.Ser1237fs)
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del) rs1236644699
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu) rs775075672
NM_022489.4(INF2):c.3715G>A (p.Asp1239Asn)
NM_022489.4(INF2):c.3717T>A (p.Asp1239Glu)
NM_022489.4(INF2):c.3717T>C (p.Asp1239=) rs748770666
NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)
NM_022489.4(INF2):c.3725_3728del (p.Thr1242fs) rs1349764218
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) rs1566787039
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu) rs1323987101
NM_022489.4(INF2):c.3731A>G (p.Lys1244Arg)
NM_022489.4(INF2):c.373G>A (p.Val125Met) rs762621935
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu) rs1890248105
NM_022489.4(INF2):c.3750A>C (p.Ter1250Tyr)
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.384C>T (p.Leu128=) rs536296013
NM_022489.4(INF2):c.391+6C>A
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.391+7C>G
NM_022489.4(INF2):c.391+7C>T
NM_022489.4(INF2):c.391+8G>A
NM_022489.4(INF2):c.391+8G>T
NM_022489.4(INF2):c.392-13_392-9dup rs775575983
NM_022489.4(INF2):c.392-17C>A
NM_022489.4(INF2):c.392-17C>G
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.427G>A (p.Val143Met) rs1237835000
NM_022489.4(INF2):c.439C>T (p.Leu147=)
NM_022489.4(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.4(INF2):c.446C>T (p.Ala149Val)
NM_022489.4(INF2):c.456C>G (p.Ile152Met)
NM_022489.4(INF2):c.465C>T (p.Pro155=)
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
NM_022489.4(INF2):c.470G>A (p.Gly157Asp) rs2140647207
NM_022489.4(INF2):c.475G>T (p.Val159Leu) rs781188543
NM_022489.4(INF2):c.483C>T (p.Thr161=)
NM_022489.4(INF2):c.490G>A (p.Ala164Thr)
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+14C>A
NM_022489.4(INF2):c.507+18G>C rs1244682335
NM_022489.4(INF2):c.507+3G>T
NM_022489.4(INF2):c.507+4G>T
NM_022489.4(INF2):c.508-13G>C
NM_022489.4(INF2):c.508-16C>A rs1889614072
NM_022489.4(INF2):c.508-17C>G
NM_022489.4(INF2):c.508-5C>A
NM_022489.4(INF2):c.51G>A (p.Lys17=)
NM_022489.4(INF2):c.54G>A (p.Leu18=)
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.565G>A (p.Asp189Asn) rs753287786
NM_022489.4(INF2):c.583G>A (p.Val195Ile) rs1595166165
NM_022489.4(INF2):c.583G>T (p.Val195Phe) rs1595166165
NM_022489.4(INF2):c.595A>C (p.Ser199Arg)
NM_022489.4(INF2):c.619G>T (p.Gly207Cys)
NM_022489.4(INF2):c.621C>T (p.Gly207=)
NM_022489.4(INF2):c.622C>G (p.Pro208Ala)
NM_022489.4(INF2):c.623C>A (p.Pro208His)
NM_022489.4(INF2):c.624C>G (p.Pro208=) rs750610272
NM_022489.4(INF2):c.625G>A (p.Glu209Lys) rs1012899025
NM_022489.4(INF2):c.630C>T (p.Asp210=)
NM_022489.4(INF2):c.637G>A (p.Ala213Thr)
NM_022489.4(INF2):c.637G>C (p.Ala213Pro) rs778267218
NM_022489.4(INF2):c.638C>A (p.Ala213Glu)
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.644C>T (p.Thr215Ile)
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.657C>T (p.Asn219=) rs2140648862
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022489.4(INF2):c.663T>C (p.Phe221=)
NM_022489.4(INF2):c.664A>G (p.Ile222Val) rs1889626323
NM_022489.4(INF2):c.664_666dup (p.Ile222dup) rs1889626434
NM_022489.4(INF2):c.667+15T>G
NM_022489.4(INF2):c.667+17G>T
NM_022489.4(INF2):c.667+20C>A
NM_022489.4(INF2):c.667+20C>T rs182087942
NM_022489.4(INF2):c.667+5G>A rs2140648957
NM_022489.4(INF2):c.668-14C>T rs1399790112
NM_022489.4(INF2):c.668-19C>G
NM_022489.4(INF2):c.668-4C>T rs1595167027
NM_022489.4(INF2):c.668-9C>G rs1889656184
NM_022489.4(INF2):c.66T>C (p.Asp22=)
NM_022489.4(INF2):c.679C>T (p.Leu227=)
NM_022489.4(INF2):c.67T>G (p.Ser23Ala) rs746964937
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.693T>C (p.Ala231=) rs909373112
NM_022489.4(INF2):c.699G>A (p.Leu233=)
NM_022489.4(INF2):c.69G>A (p.Ser23=)
NM_022489.4(INF2):c.6G>A (p.Ser2=)
NM_022489.4(INF2):c.700C>A (p.Arg234=) rs750014286
NM_022489.4(INF2):c.701+18C>T
NM_022489.4(INF2):c.701+7C>A
NM_022489.4(INF2):c.702-11C>T
NM_022489.4(INF2):c.702-13C>T
NM_022489.4(INF2):c.702-15G>A
NM_022489.4(INF2):c.702-18del
NM_022489.4(INF2):c.723G>A (p.Leu241=)
NM_022489.4(INF2):c.724C>T (p.Leu242=) rs2140663300
NM_022489.4(INF2):c.731A>T (p.Gln244Leu)
NM_022489.4(INF2):c.740C>T (p.Ala247Val) rs1211857426
NM_022489.4(INF2):c.743T>C (p.Phe248Ser)
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del) rs1889767212
NM_022489.4(INF2):c.759C>T (p.Ala253=)
NM_022489.4(INF2):c.760G>A (p.Glu254Lys) rs1595169407
NM_022489.4(INF2):c.771G>A (p.Glu257=) rs914964640
NM_022489.4(INF2):c.772G>A (p.Glu258Lys)
NM_022489.4(INF2):c.774G>A (p.Glu258=) rs369277782
NM_022489.4(INF2):c.77C>T (p.Thr26Met) rs1479164061
NM_022489.4(INF2):c.781C>T (p.Arg261Ter)
NM_022489.4(INF2):c.793G>A (p.Gly265Arg)
NM_022489.4(INF2):c.798C>A (p.Val266=) rs375005967
NM_022489.4(INF2):c.799G>C (p.Asp267His)
NM_022489.4(INF2):c.804G>T (p.Met268Ile)
NM_022489.4(INF2):c.83C>T (p.Ala28Val)
NM_022489.4(INF2):c.840C>T (p.His280=) rs2140663588
NM_022489.4(INF2):c.844-10G>A rs761236066
NM_022489.4(INF2):c.844-17C>A
NM_022489.4(INF2):c.844-20C>A
NM_022489.4(INF2):c.844-7C>T rs376927374
NM_022489.4(INF2):c.844-8C>T rs1595170187
NM_022489.4(INF2):c.846G>A (p.Val282=) rs2140665429
NM_022489.4(INF2):c.849C>T (p.Ser283=)
NM_022489.4(INF2):c.854C>T (p.Ser285Phe) rs2140665449
NM_022489.4(INF2):c.866C>T (p.Ala289Val)
NM_022489.4(INF2):c.867C>T (p.Ala289=)
NM_022489.4(INF2):c.878C>T (p.Ser293Leu)
NM_022489.4(INF2):c.894C>G (p.Leu298=) rs1271012052
NM_022489.4(INF2):c.894C>T (p.Leu298=)
NM_022489.4(INF2):c.909C>T (p.Pro303=) rs2140665690
NM_022489.4(INF2):c.917G>A (p.Arg306His)
NM_022489.4(INF2):c.923G>A (p.Ser308Asn)
NM_022489.4(INF2):c.930G>T (p.Leu310=) rs1253304427
NM_022489.4(INF2):c.93G>A (p.Glu31=)
NM_022489.4(INF2):c.940G>A (p.Ala314Thr) rs2140665830
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.954C>T (p.Leu318=)
NM_022489.4(INF2):c.966C>A (p.Ala322=)
NM_022489.4(INF2):c.966C>G (p.Ala322=) rs774024906
NM_022489.4(INF2):c.967G>A (p.Val323Met) rs761806103
NM_022489.4(INF2):c.96C>A (p.Ser32Arg)
NM_022489.4(INF2):c.96C>T (p.Ser32=) rs1354243591
NM_022489.4(INF2):c.975G>A (p.Leu325=)
NM_022489.4(INF2):c.985+11G>A
NM_022489.4(INF2):c.985+12G>A
NM_022489.4(INF2):c.985+13G>A rs752848206
NM_022489.4(INF2):c.985+16A>G
NM_022489.4(INF2):c.985+5G>A
NM_022489.4(INF2):c.985+5G>C
NM_022489.4(INF2):c.985+8_985+9del rs1273300522
NM_022489.4(INF2):c.986-10C>T
NM_022489.4(INF2):c.986-8T>A rs2140666731
NM_022489.4(INF2):c.986C>A (p.Ala329Asp) rs2140666754
NM_022489.4(INF2):c.994T>G (p.Cys332Gly) rs1399811407
NM_022489.4(INF2):c.996C>T (p.Cys332=) rs2140666799
NM_022489.4(INF2):c.997A>C (p.Thr333Pro)
NM_022489.4(INF2):c.997A>G (p.Thr333Ala) rs760664321
NM_022489.4(INF2):c.99G>A (p.Ala33=)
NM_022489.4(INF2):c.99G>C (p.Ala33=)

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