ClinVar Miner

List of variants reported as likely benign for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 648
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478 0.00781
NM_022489.4(INF2):c.1329A>C (p.Pro443=) rs769756576 0.00062
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.2181G>A (p.Ala727=) rs370830904 0.00038
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955 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.639G>A (p.Ala213=) rs149858291 0.00031
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427 0.00023
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.1736-6C>T rs371991103 0.00015
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr) rs533208785 0.00015
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.966C>T (p.Ala322=) rs774024906 0.00013
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.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.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.1499C>T (p.Pro500Leu) rs561201601 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 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.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.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.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.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.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.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.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+8G>A rs778305724 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.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.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.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.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.2682C>T (p.Ala894=) rs770520588 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 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.3032C>G (p.Thr1011Arg) rs551015347 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.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.1405A>G (p.Met469Val) rs1461056808 0.00002
NM_022489.4(INF2):c.1564C>T (p.Leu522=) rs369895163 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.2040C>T (p.Pro680=) rs373736329 0.00002
NM_022489.4(INF2):c.2049C>T (p.His683=) rs760045317 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.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.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.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg) rs747903915 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.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.1368A>G (p.Thr456=) rs1371464168 0.00001
NM_022489.4(INF2):c.1437C>G (p.Pro479=) rs1284032263 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.1605G>A (p.Glu535=) rs374316478 0.00001
NM_022489.4(INF2):c.1665G>T (p.Arg555=) rs765866844 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.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.2103C>T (p.Ala701=) rs369998116 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.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.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.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.2595C>T (p.Tyr865=) rs1244556036 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.2670A>G (p.Gln890=) rs1890119204 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.2776-5T>C rs1442200771 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.2868C>T (p.Asp956=) rs748088770 0.00001
NM_022489.4(INF2):c.2879-20G>C rs879254306 0.00001
NM_022489.4(INF2):c.2879-5C>T rs746770947 0.00001
NM_022489.4(INF2):c.2928G>A (p.Leu976=) rs759214741 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.3040+13C>T rs770337742 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.3090C>T (p.Pro1030=) rs1306938117 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.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.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.3624C>T (p.Pro1208=) rs1387927318 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.3734T>C (p.Leu1245Pro) rs761808106 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.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.516C>T (p.Cys172=) rs1346247579 0.00001
NM_022489.4(INF2):c.549C>T (p.Asn183=) rs1555373624 0.00001
NM_022489.4(INF2):c.570C>T (p.Asn190=) rs200662352 0.00001
NM_022489.4(INF2):c.579C>T (p.Tyr193=) rs986330062 0.00001
NM_022489.4(INF2):c.624C>T (p.Pro208=) rs750610272 0.00001
NM_022489.4(INF2):c.636C>T (p.Arg212=) rs373383463 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.717C>T (p.Ala239=) rs750808868 0.00001
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755 0.00001
NM_022489.4(INF2):c.765C>T (p.Asp255=) rs758423191 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.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.990G>A (p.Gln330=) rs1454095905 0.00001
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.1044C>T (p.Pro348=)
NM_022489.4(INF2):c.1077C>T (p.Ser359=)
NM_022489.4(INF2):c.1101C>T (p.Ser367=) rs1447003375
NM_022489.4(INF2):c.1110C>A (p.Gly370=) rs2140667246
NM_022489.4(INF2):c.111G>A (p.Leu37=)
NM_022489.4(INF2):c.1128T>C (p.Thr376=)
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.1224T>C (p.Val408=) rs2140667715
NM_022489.4(INF2):c.1227G>A (p.Ser409=) rs3809455
NM_022489.4(INF2):c.1237G>A (p.Ala413Thr)
NM_022489.4(INF2):c.1239C>T (p.Ala413=)
NM_022489.4(INF2):c.1254G>C (p.Ala418=) rs1370627984
NM_022489.4(INF2):c.1257C>T (p.Ser419=)
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.1341C>T (p.Pro447=)
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.1353T>C (p.Ala451=) rs1889845267
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.1386C>T (p.Pro462=)
NM_022489.4(INF2):c.1389G>T (p.Leu463=) rs1250341042
NM_022489.4(INF2):c.1419A>T (p.Ala473=) rs1595171333
NM_022489.4(INF2):c.1473T>A (p.Pro491=) rs1595171430
NM_022489.4(INF2):c.1476A>T (p.Pro492=) rs1595171436
NM_022489.4(INF2):c.1512A>G (p.Pro504=) rs774032439
NM_022489.4(INF2):c.1515C>G (p.Pro505=)
NM_022489.4(INF2):c.1518G>C (p.Leu506=) rs1393144870
NM_022489.4(INF2):c.1524T>G (p.Pro508=)
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.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.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.1664G>A (p.Arg555Gln)
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.1716G>C (p.Leu572=) rs780141010
NM_022489.4(INF2):c.1735+16C>T
NM_022489.4(INF2):c.1735+18C>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.1746T>C (p.Ser582=)
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.4(INF2):c.1812A>T (p.Arg604=)
NM_022489.4(INF2):c.1833C>T (p.Ala611=) rs2140672219
NM_022489.4(INF2):c.1860C>T (p.Ala620=)
NM_022489.4(INF2):c.1864C>T (p.Arg622Trp)
NM_022489.4(INF2):c.186C>T (p.Gly62=) rs1555373276
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.1888-9G>A
NM_022489.4(INF2):c.1905C>A (p.Ala635=)
NM_022489.4(INF2):c.1911G>A (p.Lys637=) rs1595172720
NM_022489.4(INF2):c.1935G>A (p.Leu645=)
NM_022489.4(INF2):c.1943T>A (p.Phe648Tyr)
NM_022489.4(INF2):c.1949+10G>A rs1342614480
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.1950-20C>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.2010G>A (p.Glu670=) rs1271047216
NM_022489.4(INF2):c.2052+12A>G rs1342540362
NM_022489.4(INF2):c.2052+16C>T
NM_022489.4(INF2):c.2052+19C>T
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>T (p.Ala696Val)
NM_022489.4(INF2):c.2100C>T (p.Ser700=) rs377281840
NM_022489.4(INF2):c.2118C>T (p.Leu706=) rs1595173916
NM_022489.4(INF2):c.2138+10dup rs1301032347
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.219C>T (p.Gly73=) rs2140638628
NM_022489.4(INF2):c.2226G>A (p.Leu742=)
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.2268C>T (p.Ile756=)
NM_022489.4(INF2):c.2277G>A (p.Gln759=) rs1198982780
NM_022489.4(INF2):c.228G>C (p.Leu76=)
NM_022489.4(INF2):c.2295G>A (p.Gly765=) rs2140682892
NM_022489.4(INF2):c.2310+7del rs759540621
NM_022489.4(INF2):c.2311-13C>G
NM_022489.4(INF2):c.2311-9C>A rs1890025610
NM_022489.4(INF2):c.2325T>C (p.Gly775=) rs1595175625
NM_022489.4(INF2):c.2332G>A (p.Asp778Asn)
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.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.2419-5T>C
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.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.2523C>T (p.Ser841=) rs1890100793
NM_022489.4(INF2):c.2530C>T (p.Leu844=)
NM_022489.4(INF2):c.2541T>G (p.Leu847=)
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.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.2610+15G>A rs746323324
NM_022489.4(INF2):c.2611-16G>A
NM_022489.4(INF2):c.2613C>G (p.Ala871=) rs2140692107
NM_022489.4(INF2):c.2625C>T (p.Ala875=)
NM_022489.4(INF2):c.2646G>A (p.Leu882=) rs1890118187
NM_022489.4(INF2):c.264C>G (p.Gly88=)
NM_022489.4(INF2):c.2673G>C (p.Arg891=) rs938468023
NM_022489.4(INF2):c.2682C>A (p.Ala894=)
NM_022489.4(INF2):c.2691G>C (p.Leu897=)
NM_022489.4(INF2):c.26G>T (p.Arg9Leu)
NM_022489.4(INF2):c.270A>T (p.Ala90=)
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
NM_022489.4(INF2):c.2775+11C>G
NM_022489.4(INF2):c.2776-15C>T
NM_022489.4(INF2):c.2776-20G>A rs763178910
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.2788C>T (p.Arg930Trp)
NM_022489.4(INF2):c.2805G>A (p.Ala935=)
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.2851C>T (p.Arg951Trp)
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2878+13C>T
NM_022489.4(INF2):c.2878+14G>A
NM_022489.4(INF2):c.2879-8C>T
NM_022489.4(INF2):c.2888G>A (p.Gly963Glu)
NM_022489.4(INF2):c.2901G>A (p.Gln967=)
NM_022489.4(INF2):c.2904G>A (p.Glu968=) rs766775939
NM_022489.4(INF2):c.2910G>A (p.Val970=)
NM_022489.4(INF2):c.291G>T (p.Leu97=) rs1334953478
NM_022489.4(INF2):c.2922T>C (p.Asp974=)
NM_022489.4(INF2):c.2973G>A (p.Arg991=) rs1890153381
NM_022489.4(INF2):c.2978G>A (p.Arg993His)
NM_022489.4(INF2):c.2982G>A (p.Gly994=) rs2140696493
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.306C>G (p.Val102=) rs748335660
NM_022489.4(INF2):c.308G>C (p.Ser103Thr)
NM_022489.4(INF2):c.3091G>A (p.Ala1031Thr)
NM_022489.4(INF2):c.3093C>T (p.Ala1031=)
NM_022489.4(INF2):c.3138C>T (p.Gly1046=)
NM_022489.4(INF2):c.3156C>T (p.Ala1052=)
NM_022489.4(INF2):c.3159G>C (p.Val1053=)
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.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.3236A>G (p.Tyr1079Cys)
NM_022489.4(INF2):c.3241G>T (p.Asp1081Tyr)
NM_022489.4(INF2):c.3249C>T (p.Ser1083=)
NM_022489.4(INF2):c.3261C>A (p.Thr1087=)
NM_022489.4(INF2):c.3269A>C (p.Asp1090Ala)
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.333G>A (p.Ser111=)
NM_022489.4(INF2):c.3354C>T (p.Ser1118=)
NM_022489.4(INF2):c.3402C>G (p.Pro1134=)
NM_022489.4(INF2):c.3417C>T (p.Gly1139=) rs753095805
NM_022489.4(INF2):c.3423C>G (p.Leu1141=) rs1445826828
NM_022489.4(INF2):c.3429C>T (p.Ala1143=)
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.3501C>T (p.Gly1167=)
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3536C>T (p.Thr1179Met)
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.3568G>A (p.Asp1190Asn)
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.3603C>T (p.Ser1201=) rs2140701770
NM_022489.4(INF2):c.3618A>G (p.Thr1206=)
NM_022489.4(INF2):c.3618A>T (p.Thr1206=) rs748717940
NM_022489.4(INF2):c.3632G>A (p.Arg1211Gln) 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.3648G>A (p.Lys1216=) rs139196357
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.4(INF2):c.3654C>G (p.Thr1218=) rs557462297
NM_022489.4(INF2):c.365A>G (p.Gln122Arg)
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
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+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.3709T>A (p.Ser1237Thr)
NM_022489.4(INF2):c.3717T>C (p.Asp1239=) rs748770666
NM_022489.4(INF2):c.3722A>G (p.Lys1241Arg)
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.392-17C>A
NM_022489.4(INF2):c.392-17C>G
NM_022489.4(INF2):c.439C>T (p.Leu147=)
NM_022489.4(INF2):c.465C>T (p.Pro155=)
NM_022489.4(INF2):c.483C>T (p.Thr161=)
NM_022489.4(INF2):c.507+14C>A
NM_022489.4(INF2):c.507+18G>C rs1244682335
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.621C>T (p.Gly207=)
NM_022489.4(INF2):c.624C>G (p.Pro208=) rs750610272
NM_022489.4(INF2):c.657C>T (p.Asn219=) rs2140648862
NM_022489.4(INF2):c.663T>C (p.Phe221=)
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.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.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.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.759C>T (p.Ala253=)
NM_022489.4(INF2):c.771G>A (p.Glu257=) rs914964640
NM_022489.4(INF2):c.774G>A (p.Glu258=) rs369277782
NM_022489.4(INF2):c.793G>A (p.Gly265Arg)
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.867C>T (p.Ala289=)
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.930G>T (p.Leu310=) rs1253304427
NM_022489.4(INF2):c.93G>A (p.Glu31=)
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.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.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+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.99G>A (p.Ala33=)
NM_022489.4(INF2):c.99G>C (p.Ala33=)

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