ClinVar Miner

List of variants studied for Majeed syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 574
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_001375808.2(LPIN2):c.2174+17_2174+18insAT rs368009098 0.00452
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001375808.2(LPIN2):c.120T>C (p.Asp40=) rs143261167 0.00243
NM_001375808.2(LPIN2):c.2327+11G>A rs148930095 0.00240
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_001375808.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044 0.00066
NM_001375808.2(LPIN2):c.2583C>T (p.Phe861=) rs141043192 0.00057
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.517G>A (p.Ala173Thr) rs140609636 0.00048
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.552C>T (p.Gly184=) rs142048129 0.00034
NM_001375808.2(LPIN2):c.516C>T (p.Ala172=) rs150312425 0.00026
NM_001375808.2(LPIN2):c.1133C>T (p.Pro378Leu) rs146067222 0.00025
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207 0.00018
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_001375808.2(LPIN2):c.1793+18T>C rs533296054 0.00015
NM_001375808.2(LPIN2):c.1957G>A (p.Asp653Asn) rs148258407 0.00015
NM_001375808.2(LPIN2):c.1620+16del rs759865446 0.00014
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724 0.00013
NM_001375808.2(LPIN2):c.1794-14C>T rs377387275 0.00013
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_001375808.2(LPIN2):c.2371C>T (p.Leu791=) rs373520277 0.00011
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309 0.00011
NM_001375808.2(LPIN2):c.1268+13T>C rs371589907 0.00010
NM_001375808.2(LPIN2):c.192+3G>A rs377113126 0.00010
NM_001375808.2(LPIN2):c.2327+14A>G rs370048111 0.00010
NM_001375808.2(LPIN2):c.2658G>A (p.Pro886=) rs371358114 0.00010
NM_001375808.2(LPIN2):c.289-16C>T rs759180126 0.00010
NM_001375808.2(LPIN2):c.1168+4A>G rs368340969 0.00009
NM_001375808.2(LPIN2):c.2624C>T (p.Pro875Leu) rs367929381 0.00009
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001375808.2(LPIN2):c.1821C>T (p.Asp607=) rs548432470 0.00008
NM_001375808.2(LPIN2):c.2566C>G (p.Leu856Val) rs200839841 0.00008
NM_001375808.2(LPIN2):c.1887C>T (p.His629=) rs141252313 0.00007
NM_001375808.2(LPIN2):c.2174+10C>T rs201227858 0.00007
NM_001375808.2(LPIN2):c.588A>G (p.Ala196=) rs1020661683 0.00007
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_001375808.2(LPIN2):c.1011C>T (p.Ser337=) rs375422942 0.00006
NM_001375808.2(LPIN2):c.1338C>T (p.Ser446=) rs753669833 0.00006
NM_001375808.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.2261A>G (p.Lys754Arg) rs1028913918 0.00006
NM_001375808.2(LPIN2):c.2399C>T (p.Pro800Leu) rs748431474 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr) rs540544894 0.00005
NM_001375808.2(LPIN2):c.1711-3C>T rs753743998 0.00005
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_001375808.2(LPIN2):c.1956C>T (p.His652=) rs750220265 0.00005
NM_001375808.2(LPIN2):c.2088-11C>T rs553605811 0.00005
NM_001375808.2(LPIN2):c.2650C>T (p.Arg884Ter) rs547662448 0.00005
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr) rs181542503 0.00005
NM_001375808.2(LPIN2):c.1074G>A (p.Met358Ile) rs750095569 0.00004
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1168+7G>A rs370807298 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1282G>A (p.Gly428Ser) rs768189312 0.00004
NM_001375808.2(LPIN2):c.1375C>G (p.Leu459Val) rs781705610 0.00004
NM_001375808.2(LPIN2):c.1435G>A (p.Glu479Lys) rs571085377 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001375808.2(LPIN2):c.193-18A>T rs748188345 0.00004
NM_001375808.2(LPIN2):c.2088-10G>A rs374043211 0.00004
NM_001375808.2(LPIN2):c.2434C>T (p.Arg812Cys) rs754916357 0.00004
NM_001375808.2(LPIN2):c.2450A>G (p.Tyr817Cys) rs759880645 0.00004
NM_001375808.2(LPIN2):c.2567T>G (p.Leu856Arg) rs768061281 0.00004
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys) rs371299772 0.00004
NM_001375808.2(LPIN2):c.1134G>A (p.Pro378=) rs543890845 0.00003
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_001375808.2(LPIN2):c.1274C>T (p.Ser425Leu) rs772737665 0.00003
NM_001375808.2(LPIN2):c.1329C>A (p.Ser443=) rs759651506 0.00003
NM_001375808.2(LPIN2):c.1800C>T (p.Ala600=) rs369572309 0.00003
NM_001375808.2(LPIN2):c.2278C>T (p.Arg760Trp) rs371146662 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001375808.2(LPIN2):c.2328-20T>C rs763961605 0.00003
NM_001375808.2(LPIN2):c.2343G>T (p.Lys781Asn) rs765195065 0.00003
NM_001375808.2(LPIN2):c.2547-11C>T rs776045621 0.00003
NM_001375808.2(LPIN2):c.2655C>A (p.Asp885Glu) rs140002239 0.00003
NM_001375808.2(LPIN2):c.377G>A (p.Gly126Asp) rs778376881 0.00003
NM_001375808.2(LPIN2):c.540A>C (p.Thr180=) rs151135579 0.00003
NM_001375808.2(LPIN2):c.553G>A (p.Val185Met) rs148620026 0.00003
NM_001375808.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598 0.00003
NM_001375808.2(LPIN2):c.838C>A (p.Arg280=) rs759667494 0.00003
NM_001375808.2(LPIN2):c.106G>A (p.Val36Ile) rs774019375 0.00002
NM_001375808.2(LPIN2):c.1118C>T (p.Pro373Leu) rs772230305 0.00002
NM_001375808.2(LPIN2):c.1152G>A (p.Ser384=) rs375168505 0.00002
NM_001375808.2(LPIN2):c.1154C>T (p.Pro385Leu) rs754221410 0.00002
NM_001375808.2(LPIN2):c.1347C>T (p.Ser449=) rs773074044 0.00002
NM_001375808.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222 0.00002
NM_001375808.2(LPIN2):c.1362C>T (p.Ser454=) rs371484024 0.00002
NM_001375808.2(LPIN2):c.1367C>T (p.Thr456Ile) rs368807055 0.00002
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1489G>A (p.Glu497Lys) rs201325845 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_001375808.2(LPIN2):c.1814C>T (p.Ser605Leu) rs781778980 0.00002
NM_001375808.2(LPIN2):c.1923C>T (p.Leu641=) rs183435741 0.00002
NM_001375808.2(LPIN2):c.200T>C (p.Ile67Thr) rs1385257235 0.00002
NM_001375808.2(LPIN2):c.2174+18G>A rs748082204 0.00002
NM_001375808.2(LPIN2):c.2207G>A (p.Arg736His) rs779519224 0.00002
NM_001375808.2(LPIN2):c.2255A>G (p.Asn752Ser) rs767620772 0.00002
NM_001375808.2(LPIN2):c.2381T>C (p.Ile794Thr) rs183821298 0.00002
NM_001375808.2(LPIN2):c.2408A>T (p.Gln803Leu) rs777924824 0.00002
NM_001375808.2(LPIN2):c.2420C>T (p.Ala807Val) rs752533626 0.00002
NM_001375808.2(LPIN2):c.2442+14G>C rs1434250691 0.00002
NM_001375808.2(LPIN2):c.2651G>A (p.Arg884Gln) rs781500548 0.00002
NM_001375808.2(LPIN2):c.289-12A>G rs375980851 0.00002
NM_001375808.2(LPIN2):c.367G>C (p.Val123Leu) rs777511827 0.00002
NM_001375808.2(LPIN2):c.374C>T (p.Ser125Leu) rs542116963 0.00002
NM_001375808.2(LPIN2):c.388A>G (p.Thr130Ala) rs191101701 0.00002
NM_001375808.2(LPIN2):c.417C>T (p.His139=) rs752124144 0.00002
NM_001375808.2(LPIN2):c.561C>T (p.Ser187=) rs755780342 0.00002
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_001375808.2(LPIN2):c.591-19T>G rs765447652 0.00002
NM_001375808.2(LPIN2):c.606T>C (p.Ala202=) rs1157352133 0.00002
NM_001375808.2(LPIN2):c.717G>A (p.Ala239=) rs146368213 0.00002
NM_001375808.2(LPIN2):c.839G>A (p.Arg280Gln) rs749727482 0.00002
NM_001375808.2(LPIN2):c.102C>T (p.Ile34=) rs961211983 0.00001
NM_001375808.2(LPIN2):c.1072A>G (p.Met358Val) rs1468101530 0.00001
NM_001375808.2(LPIN2):c.1082C>T (p.Ala361Val) rs767142433 0.00001
NM_001375808.2(LPIN2):c.1109C>T (p.Ala370Val) rs771059835 0.00001
NM_001375808.2(LPIN2):c.1115C>T (p.Ala372Val) rs201830346 0.00001
NM_001375808.2(LPIN2):c.1143A>G (p.Lys381=) rs574890650 0.00001
NM_001375808.2(LPIN2):c.1155G>A (p.Pro385=) rs558271134 0.00001
NM_001375808.2(LPIN2):c.1199C>T (p.Pro400Leu) rs1215786797 0.00001
NM_001375808.2(LPIN2):c.125G>C (p.Ser42Thr) rs201473097 0.00001
NM_001375808.2(LPIN2):c.1268+7T>C rs1375096557 0.00001
NM_001375808.2(LPIN2):c.1275G>A (p.Ser425=) rs1051720856 0.00001
NM_001375808.2(LPIN2):c.1299C>T (p.Pro433=) rs781673368 0.00001
NM_001375808.2(LPIN2):c.131A>G (p.Gln44Arg) rs747502342 0.00001
NM_001375808.2(LPIN2):c.1332A>G (p.Pro444=) rs1297660489 0.00001
NM_001375808.2(LPIN2):c.1368C>T (p.Thr456=) rs748919467 0.00001
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.1488C>T (p.His496=) rs773652492 0.00001
NM_001375808.2(LPIN2):c.1492T>C (p.Phe498Leu) rs876660986 0.00001
NM_001375808.2(LPIN2):c.1544A>G (p.Tyr515Cys) rs746027036 0.00001
NM_001375808.2(LPIN2):c.1549C>T (p.Arg517Cys) rs781071052 0.00001
NM_001375808.2(LPIN2):c.1621-7T>G rs758701848 0.00001
NM_001375808.2(LPIN2):c.1631A>G (p.Glu544Gly) rs760055156 0.00001
NM_001375808.2(LPIN2):c.1664C>G (p.Ser555Cys) rs773514460 0.00001
NM_001375808.2(LPIN2):c.1710+3A>G rs1007627972 0.00001
NM_001375808.2(LPIN2):c.1711-9C>G rs774311463 0.00001
NM_001375808.2(LPIN2):c.1712T>A (p.Leu571Gln) rs142392384 0.00001
NM_001375808.2(LPIN2):c.1720T>A (p.Ser574Thr) rs148779863 0.00001
NM_001375808.2(LPIN2):c.1722C>T (p.Ser574=) rs144282017 0.00001
NM_001375808.2(LPIN2):c.1745C>T (p.Pro582Leu) rs755110304 0.00001
NM_001375808.2(LPIN2):c.1746G>A (p.Pro582=) rs756661200 0.00001
NM_001375808.2(LPIN2):c.1782G>A (p.Pro594=) rs763809465 0.00001
NM_001375808.2(LPIN2):c.1785C>T (p.Ala595=) rs775141304 0.00001
NM_001375808.2(LPIN2):c.1840G>A (p.Glu614Lys) rs765017173 0.00001
NM_001375808.2(LPIN2):c.1854A>G (p.Thr618=) rs753630025 0.00001
NM_001375808.2(LPIN2):c.1860C>T (p.Asp620=) rs760510209 0.00001
NM_001375808.2(LPIN2):c.191T>C (p.Val64Ala) rs754730690 0.00001
NM_001375808.2(LPIN2):c.1930G>A (p.Asp644Asn) rs779176377 0.00001
NM_001375808.2(LPIN2):c.1938+10G>A rs750261432 0.00001
NM_001375808.2(LPIN2):c.1938+4A>G rs1397526157 0.00001
NM_001375808.2(LPIN2):c.1975G>A (p.Val659Met) rs948057549 0.00001
NM_001375808.2(LPIN2):c.2090C>T (p.Ser697Leu) rs754622332 0.00001
NM_001375808.2(LPIN2):c.2091G>A (p.Ser697=) rs767788156 0.00001
NM_001375808.2(LPIN2):c.210C>T (p.Asn70=) rs780037453 0.00001
NM_001375808.2(LPIN2):c.2171A>G (p.Asn724Ser) rs140915714 0.00001
NM_001375808.2(LPIN2):c.2202G>A (p.Ser734=) rs559418917 0.00001
NM_001375808.2(LPIN2):c.2214C>T (p.Ile738=) rs769457477 0.00001
NM_001375808.2(LPIN2):c.2224G>A (p.Asp742Asn) rs779538504 0.00001
NM_001375808.2(LPIN2):c.2234G>A (p.Arg745His) rs1222370431 0.00001
NM_001375808.2(LPIN2):c.223G>A (p.Asp75Asn) rs750411797 0.00001
NM_001375808.2(LPIN2):c.2291T>G (p.Met764Arg) rs2077063217 0.00001
NM_001375808.2(LPIN2):c.2317G>A (p.Ala773Thr) rs750526323 0.00001
NM_001375808.2(LPIN2):c.2327+4C>T rs1344450204 0.00001
NM_001375808.2(LPIN2):c.2327+6T>A rs1334564990 0.00001
NM_001375808.2(LPIN2):c.2400G>C (p.Pro800=) rs747097533 0.00001
NM_001375808.2(LPIN2):c.2442+13T>C rs749917642 0.00001
NM_001375808.2(LPIN2):c.2443-14A>G rs749926941 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.2481T>C (p.Cys827=) rs771390365 0.00001
NM_001375808.2(LPIN2):c.2493C>T (p.Thr831=) rs1167923626 0.00001
NM_001375808.2(LPIN2):c.2494G>A (p.Val832Met) rs773309322 0.00001
NM_001375808.2(LPIN2):c.2502C>A (p.Pro834=) rs748215246 0.00001
NM_001375808.2(LPIN2):c.2547-1G>A rs145858312 0.00001
NM_001375808.2(LPIN2):c.2612C>T (p.Ala871Val) rs1210159824 0.00001
NM_001375808.2(LPIN2):c.2617C>A (p.Pro873Thr) rs757315664 0.00001
NM_001375808.2(LPIN2):c.2678A>G (p.Asp893Gly) rs1830594288 0.00001
NM_001375808.2(LPIN2):c.27G>C (p.Gly9=) rs193085338 0.00001
NM_001375808.2(LPIN2):c.361C>T (p.Pro121Ser) rs142161739 0.00001
NM_001375808.2(LPIN2):c.418G>A (p.Val140Ile) rs751024451 0.00001
NM_001375808.2(LPIN2):c.496A>G (p.Ser166Gly) rs1187367177 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.577G>A (p.Ala193Thr) rs539324906 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.591-12T>C rs1392566154 0.00001
NM_001375808.2(LPIN2):c.705T>C (p.Tyr235=) rs376775853 0.00001
NM_001375808.2(LPIN2):c.751C>T (p.Pro251Ser) rs1350091087 0.00001
NM_001375808.2(LPIN2):c.755C>T (p.Ala252Val) rs774296727 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001375808.2(LPIN2):c.766C>A (p.Leu256Ile) rs765149855 0.00001
NM_001375808.2(LPIN2):c.777G>T (p.Glu259Asp) rs772512144 0.00001
NM_001375808.2(LPIN2):c.795G>A (p.Thr265=) rs373300544 0.00001
NM_001375808.2(LPIN2):c.802G>A (p.Gly268Arg) rs755432834 0.00001
NM_001375808.2(LPIN2):c.822+8G>A rs1229703486 0.00001
NM_001375808.2(LPIN2):c.825C>T (p.Val275=) rs1296229873 0.00001
NM_001375808.2(LPIN2):c.87G>A (p.Gly29=) rs1346313879 0.00001
NM_001375808.2(LPIN2):c.896G>A (p.Arg299Gln) rs766189065 0.00001
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg) rs139798681 0.00001
NM_001375808.2(LPIN2):c.944C>T (p.Ala315Val) rs777659252 0.00001
NM_001375808.2(LPIN2):c.997G>C (p.Gly333Arg) rs531715581 0.00001
NC_000018.10:g.(?_2920273)_(2960860_?)del
NC_000018.10:g.(?_2921533)_(2938037_?)del
NC_000018.10:g.(?_2926703)_(2929178_?)del
NC_000018.10:g.(?_2931236)_(2951376_?)del
NC_000018.9:g.(?_2656075)_(2960838_?)del
NC_000018.9:g.(?_2920271)_(2931461_?)del
NC_000018.9:g.(?_2920271)_(2960858_?)dup
NC_000018.9:g.(?_2920291)_(2940730_?)del
NC_000018.9:g.(?_2920291)_(3457938_?)dup
NC_000018.9:g.(?_2921511)_(2938055_?)del
NM_001375808.2(LPIN2):c.1010G>C (p.Ser337Thr) rs563019654
NM_001375808.2(LPIN2):c.1017A>G (p.Pro339=) rs2144195604
NM_001375808.2(LPIN2):c.1026G>A (p.Val342=) rs1232642116
NM_001375808.2(LPIN2):c.1026G>T (p.Val342=) rs1232642116
NM_001375808.2(LPIN2):c.1038C>T (p.Leu346=)
NM_001375808.2(LPIN2):c.1042_1045delinsGTA (p.Pro348fs) rs2077310320
NM_001375808.2(LPIN2):c.1049T>G (p.Leu350Arg) rs2144195296
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln) rs2077310038
NM_001375808.2(LPIN2):c.1061A>G (p.Gln354Arg)
NM_001375808.2(LPIN2):c.1062G>A (p.Gln354=)
NM_001375808.2(LPIN2):c.1073T>C (p.Met358Thr) rs2077309425
NM_001375808.2(LPIN2):c.108A>G (p.Val36=)
NM_001375808.2(LPIN2):c.1098C>T (p.Asn366=)
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu) rs2143203306
NM_001375808.2(LPIN2):c.1110G>A (p.Ala370=)
NM_001375808.2(LPIN2):c.1116G>A (p.Ala372=) rs773325510
NM_001375808.2(LPIN2):c.1116G>C (p.Ala372=)
NM_001375808.2(LPIN2):c.1145T>G (p.Val382Gly) rs751176955
NM_001375808.2(LPIN2):c.114G>A (p.Gln38=) rs2143202505
NM_001375808.2(LPIN2):c.1160_1163del (p.Lys387fs) rs2144194297
NM_001375808.2(LPIN2):c.1168+10del
NM_001375808.2(LPIN2):c.1168+14T>C
NM_001375808.2(LPIN2):c.1169-20C>G
NM_001375808.2(LPIN2):c.1169-4del
NM_001375808.2(LPIN2):c.1169-7T>G
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1169-8T>C rs2144178133
NM_001375808.2(LPIN2):c.1169G>C (p.Gly390Ala) rs761918167
NM_001375808.2(LPIN2):c.1176C>A (p.His392Gln) rs774569139
NM_001375808.2(LPIN2):c.1185C>T (p.Ser395=) rs2077256730
NM_001375808.2(LPIN2):c.1201G>C (p.Asp401His)
NM_001375808.2(LPIN2):c.1203T>G (p.Asp401Glu) rs1018736752
NM_001375808.2(LPIN2):c.1228G>C (p.Gly410Arg)
NM_001375808.2(LPIN2):c.1229G>A (p.Gly410Asp) rs2077255674
NM_001375808.2(LPIN2):c.1229G>T (p.Gly410Val)
NM_001375808.2(LPIN2):c.1254T>C (p.Leu418=)
NM_001375808.2(LPIN2):c.1268+11C>T
NM_001375808.2(LPIN2):c.1268+16T>C
NM_001375808.2(LPIN2):c.1268+6G>A
NM_001375808.2(LPIN2):c.1268+9G>A rs1183619133
NM_001375808.2(LPIN2):c.1269-18C>G
NM_001375808.2(LPIN2):c.126C>T (p.Ser42=) rs2143202348
NM_001375808.2(LPIN2):c.1291C>A (p.Gln431Lys)
NM_001375808.2(LPIN2):c.1299C>A (p.Pro433=) rs781673368
NM_001375808.2(LPIN2):c.1312C>T (p.Leu438Phe) rs138079183
NM_001375808.2(LPIN2):c.1314C>G (p.Leu438=)
NM_001375808.2(LPIN2):c.1315T>C (p.Ser439Pro) rs1555673672
NM_001375808.2(LPIN2):c.1320C>G (p.Gly440=)
NM_001375808.2(LPIN2):c.1322C>A (p.Ser441Tyr) rs2077211393
NM_001375808.2(LPIN2):c.1322C>G (p.Ser441Cys) rs2077211393
NM_001375808.2(LPIN2):c.1323C>G (p.Ser441=)
NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs) rs876660982
NM_001375808.2(LPIN2):c.133T>G (p.Cys45Gly) rs2143202250
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.1369G>A (p.Glu457Lys)
NM_001375808.2(LPIN2):c.1390A>G (p.Met464Val) rs2077210318
NM_001375808.2(LPIN2):c.1399C>T (p.Pro467Ser) rs2144161696
NM_001375808.2(LPIN2):c.1410C>G (p.Thr470=) rs35932462
NM_001375808.2(LPIN2):c.1417C>A (p.Leu473Ile)
NM_001375808.2(LPIN2):c.1422C>T (p.Cys474=)
NM_001375808.2(LPIN2):c.1423G>A (p.Gly475Arg) rs2077209843
NM_001375808.2(LPIN2):c.1442G>C (p.Gly481Ala) rs377661526
NM_001375808.2(LPIN2):c.1451_1456+6del rs2077209051
NM_001375808.2(LPIN2):c.1456+5G>A rs767379049
NM_001375808.2(LPIN2):c.1456+5G>T
NM_001375808.2(LPIN2):c.1457-10T>C rs762492589
NM_001375808.2(LPIN2):c.1457-20ATT[2]
NM_001375808.2(LPIN2):c.1457-21_1457-18del
NM_001375808.2(LPIN2):c.1485T>C (p.Tyr495=)
NM_001375808.2(LPIN2):c.1497A>G (p.Ala499=)
NM_001375808.2(LPIN2):c.1504C>G (p.Pro502Ala) rs2077177749
NM_001375808.2(LPIN2):c.1506T>A (p.Pro502=)
NM_001375808.2(LPIN2):c.1522C>T (p.Pro508Ser) rs1598528577
NM_001375808.2(LPIN2):c.1524T>C (p.Pro508=) rs2144150762
NM_001375808.2(LPIN2):c.1527C>T (p.Asn509=) rs2144150748
NM_001375808.2(LPIN2):c.1547A>G (p.Asn516Ser) rs2144150580
NM_001375808.2(LPIN2):c.154T>G (p.Phe52Val)
NM_001375808.2(LPIN2):c.1550+11C>G
NM_001375808.2(LPIN2):c.1550+14C>G
NM_001375808.2(LPIN2):c.1550+8C>T
NM_001375808.2(LPIN2):c.1551-5C>G
NM_001375808.2(LPIN2):c.1591T>C (p.Leu531=)
NM_001375808.2(LPIN2):c.1596A>C (p.Gln532His)
NM_001375808.2(LPIN2):c.1620+8G>A
NM_001375808.2(LPIN2):c.1620+8G>C rs751918963
NM_001375808.2(LPIN2):c.1621-15G>A
NM_001375808.2(LPIN2):c.1621-16G>A
NM_001375808.2(LPIN2):c.1621-5_1621-4insCAC rs2144144869
NM_001375808.2(LPIN2):c.1621-9T>G
NM_001375808.2(LPIN2):c.1669C>T (p.Arg557Cys)
NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter)
NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter)
NM_001375808.2(LPIN2):c.1710+15G>C
NM_001375808.2(LPIN2):c.1710+19A>G
NM_001375808.2(LPIN2):c.1710+7G>A rs1345198380
NM_001375808.2(LPIN2):c.1710+7G>C
NM_001375808.2(LPIN2):c.1710+8A>T
NM_001375808.2(LPIN2):c.1711-15A>C
NM_001375808.2(LPIN2):c.1711-16C>T
NM_001375808.2(LPIN2):c.1711C>T (p.Leu571=) rs151293770
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1749_1781del (p.Ser585_Ala595del)
NM_001375808.2(LPIN2):c.1754G>C (p.Ser585Thr) rs2077137787
NM_001375808.2(LPIN2):c.1758C>T (p.Asp586=) rs2144139743
NM_001375808.2(LPIN2):c.1767C>A (p.Ser589=)
NM_001375808.2(LPIN2):c.1775A>G (p.Lys592Arg) rs2077137437
NM_001375808.2(LPIN2):c.1783G>T (p.Ala595Ser)
NM_001375808.2(LPIN2):c.1793+15C>T
NM_001375808.2(LPIN2):c.1794-11A>T rs1287905667
NM_001375808.2(LPIN2):c.1794-12A>C
NM_001375808.2(LPIN2):c.1794-5A>T rs2144133645
NM_001375808.2(LPIN2):c.1794-9G>A rs587781026
NM_001375808.2(LPIN2):c.1809CTC[1] (p.Ser606del)
NM_001375808.2(LPIN2):c.1811C>A (p.Ser604Tyr)
NM_001375808.2(LPIN2):c.1826dup (p.Ser610fs) rs2144133348
NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter) rs2144133234
NM_001375808.2(LPIN2):c.1864A>T (p.Ile622Phe)
NM_001375808.2(LPIN2):c.1877C>T (p.Pro626Leu) rs2144132938
NM_001375808.2(LPIN2):c.1894A>C (p.Thr632Pro)
NM_001375808.2(LPIN2):c.1894A>G (p.Thr632Ala)
NM_001375808.2(LPIN2):c.1901C>T (p.Ser634Leu)
NM_001375808.2(LPIN2):c.1902A>G (p.Ser634=) rs1171969014
NM_001375808.2(LPIN2):c.192+10C>G rs1568574874
NM_001375808.2(LPIN2):c.1924_1928del (p.Ser642fs) rs2077113045
NM_001375808.2(LPIN2):c.193-14T>G
NM_001375808.2(LPIN2):c.193-14dup
NM_001375808.2(LPIN2):c.193-9C>A
NM_001375808.2(LPIN2):c.1938+15A>G
NM_001375808.2(LPIN2):c.1938+17_1938+18del
NM_001375808.2(LPIN2):c.1938+1G>A
NM_001375808.2(LPIN2):c.1939-15dup
NM_001375808.2(LPIN2):c.1939-19T>G
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.1939-5A>G rs779830291
NM_001375808.2(LPIN2):c.1940C>T (p.Ala647Val) rs2077102755
NM_001375808.2(LPIN2):c.1953C>G (p.Leu651=) rs2144129579
NM_001375808.2(LPIN2):c.1954C>T (p.His652Tyr)
NM_001375808.2(LPIN2):c.195T>A (p.Ile65=) rs2077582494
NM_001375808.2(LPIN2):c.1962C>T (p.Gly654=)
NM_001375808.2(LPIN2):c.1985T>C (p.Ile662Thr)
NM_001375808.2(LPIN2):c.1986T>C (p.Ile662=)
NM_001375808.2(LPIN2):c.199A>G (p.Ile67Val) rs1448362269
NM_001375808.2(LPIN2):c.2007C>T (p.Thr669=) rs761000111
NM_001375808.2(LPIN2):c.2013C>T (p.Arg671=)
NM_001375808.2(LPIN2):c.2031C>T (p.Tyr677=) rs2144129211
NM_001375808.2(LPIN2):c.2034G>C (p.Leu678=) rs749526038
NM_001375808.2(LPIN2):c.2053A>G (p.Ile685Val)
NM_001375808.2(LPIN2):c.2055C>T (p.Ile685=)
NM_001375808.2(LPIN2):c.2060T>C (p.Ile687Thr)
NM_001375808.2(LPIN2):c.2076G>C (p.Gly692=) rs781016213
NM_001375808.2(LPIN2):c.2086_2087+39del rs1598522408
NM_001375808.2(LPIN2):c.2087+9A>G rs1598522453
NM_001375808.2(LPIN2):c.2088-10dup
NM_001375808.2(LPIN2):c.2088-13A>G
NM_001375808.2(LPIN2):c.2088-8C>A
NM_001375808.2(LPIN2):c.2088-9T>C
NM_001375808.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
NM_001375808.2(LPIN2):c.2098T>C (p.Leu700=)
NM_001375808.2(LPIN2):c.2103A>G (p.Gly701=)
NM_001375808.2(LPIN2):c.2119C>T (p.Leu707=) rs2144126370
NM_001375808.2(LPIN2):c.2124C>T (p.Gly708=) rs1170798474
NM_001375808.2(LPIN2):c.2125A>T (p.Lys709Ter)
NM_001375808.2(LPIN2):c.2174+11T>A rs902479283
NM_001375808.2(LPIN2):c.2174+12C>T
NM_001375808.2(LPIN2):c.2174+14C>T
NM_001375808.2(LPIN2):c.2174+8C>T rs2144126085
NM_001375808.2(LPIN2):c.2175-12G>C
NM_001375808.2(LPIN2):c.2175-14G>T rs374483994
NM_001375808.2(LPIN2):c.2175-7C>T
NM_001375808.2(LPIN2):c.2181C>G (p.Gly727=)
NM_001375808.2(LPIN2):c.2183A>G (p.Tyr728Cys) rs1335621701
NM_001375808.2(LPIN2):c.2184C>T (p.Tyr728=)
NM_001375808.2(LPIN2):c.2189T>C (p.Phe730Ser) rs2077065305
NM_001375808.2(LPIN2):c.2196C>T (p.Tyr732=)
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001375808.2(LPIN2):c.2217C>T (p.Gly739=)
NM_001375808.2(LPIN2):c.2237G>A (p.Gly746Asp) rs1555672260
NM_001375808.2(LPIN2):c.2246A>G (p.His749Arg) rs1598519554
NM_001375808.2(LPIN2):c.2265C>T (p.Gly755=) rs2144118754
NM_001375808.2(LPIN2):c.2268A>G (p.Thr756=)
NM_001375808.2(LPIN2):c.2279G>A (p.Arg760Gln) rs2077063454
NM_001375808.2(LPIN2):c.2283C>A (p.Gly761=)
NM_001375808.2(LPIN2):c.2287C>T (p.Leu763=) rs745533997
NM_001375808.2(LPIN2):c.2313C>T (p.Phe771=)
NM_001375808.2(LPIN2):c.2316C>A (p.Ser772=) rs145270447
NM_001375808.2(LPIN2):c.2327+9C>A rs536913334
NM_001375808.2(LPIN2):c.2327+9C>T rs536913334
NM_001375808.2(LPIN2):c.2328-15_2328-10del rs770202563
NM_001375808.2(LPIN2):c.2328-6T>A
NM_001375808.2(LPIN2):c.2328-6dup
NM_001375808.2(LPIN2):c.2336T>C (p.Ile779Thr) rs2077055890
NM_001375808.2(LPIN2):c.2340A>G (p.Glu780=)
NM_001375808.2(LPIN2):c.2342_2346del (p.Lys781fs) rs762442011
NM_001375808.2(LPIN2):c.2348C>T (p.Pro783Leu) rs2144116602
NM_001375808.2(LPIN2):c.2353A>G (p.Lys785Glu)
NM_001375808.2(LPIN2):c.2358C>A (p.Phe786Leu)
NM_001375808.2(LPIN2):c.2385G>C (p.Lys795Asn) rs775976047
NM_001375808.2(LPIN2):c.2396C>T (p.Ala799Val) rs2077055023
NM_001375808.2(LPIN2):c.2398C>A (p.Pro800Thr)
NM_001375808.2(LPIN2):c.2400G>A (p.Pro800=) rs747097533
NM_001375808.2(LPIN2):c.2409G>C (p.Gln803His) rs876660987
NM_001375808.2(LPIN2):c.2415C>T (p.Phe805=)
NM_001375808.2(LPIN2):c.241G>A (p.Gly81Ser) rs2143138290
NM_001375808.2(LPIN2):c.2428G>A (p.Gly810Arg)
NM_001375808.2(LPIN2):c.2442+12C>T
NM_001375808.2(LPIN2):c.2442+19C>G
NM_001375808.2(LPIN2):c.2442+8T>C rs2144115979
NM_001375808.2(LPIN2):c.2443-2A>G rs2144112758
NM_001375808.2(LPIN2):c.2456A>G (p.Tyr819Cys)
NM_001375808.2(LPIN2):c.2458A>G (p.Thr820Ala) rs2077043149
NM_001375808.2(LPIN2):c.2475A>G (p.Pro825=)
NM_001375808.2(LPIN2):c.2495_2496dup (p.Asn833Ter) rs2144112462
NM_001375808.2(LPIN2):c.249C>T (p.Asn83=)
NM_001375808.2(LPIN2):c.2529C>T (p.Thr843=)
NM_001375808.2(LPIN2):c.2531A>G (p.Lys844Arg) rs2077042167
NM_001375808.2(LPIN2):c.2537A>C (p.Asn846Thr) rs1251007885
NM_001375808.2(LPIN2):c.2546+10T>A rs2144112120
NM_001375808.2(LPIN2):c.2546+13T>C
NM_001375808.2(LPIN2):c.2546+14C>T
NM_001375808.2(LPIN2):c.2546+16G>C
NM_001375808.2(LPIN2):c.2547-15C>T
NM_001375808.2(LPIN2):c.2547-16C>T
NM_001375808.2(LPIN2):c.2547-5_2547-4del
NM_001375808.2(LPIN2):c.2566C>T (p.Leu856Phe) rs200839841
NM_001375808.2(LPIN2):c.2569G>A (p.Val857Met)
NM_001375808.2(LPIN2):c.2569G>T (p.Val857Leu) rs1346809433
NM_001375808.2(LPIN2):c.2583C>A (p.Phe861Leu)
NM_001375808.2(LPIN2):c.2594G>A (p.Ser865Asn) rs1398896345
NM_001375808.2(LPIN2):c.2595T>C (p.Ser865=)
NM_001375808.2(LPIN2):c.2598G>A (p.Lys866=)
NM_001375808.2(LPIN2):c.2617C>T (p.Pro873Ser)
NM_001375808.2(LPIN2):c.261C>T (p.Phe87=) rs2077581512
NM_001375808.2(LPIN2):c.2621G>A (p.Cys874Tyr) rs201160155
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.2623C>A (p.Pro875Thr) rs2077035373
NM_001375808.2(LPIN2):c.2639_2641del (p.Phe880del) rs755987482
NM_001375808.2(LPIN2):c.2640C>G (p.Phe880Leu)
NM_001375808.2(LPIN2):c.2640C>T (p.Phe880=) rs754603570
NM_001375808.2(LPIN2):c.2649G>A (p.Trp883Ter)
NM_001375808.2(LPIN2):c.2656C>G (p.Pro886Ala) rs1470910142
NM_001375808.2(LPIN2):c.2667A>G (p.Glu889=)
NM_001375808.2(LPIN2):c.2682C>T (p.Asp894=)
NM_001375808.2(LPIN2):c.2686T>A (p.Ser896Thr)
NM_001375808.2(LPIN2):c.26G>A (p.Gly9Glu)
NM_001375808.2(LPIN2):c.288+10C>T rs766750528
NM_001375808.2(LPIN2):c.288+13G>C rs2143137276
NM_001375808.2(LPIN2):c.288+19C>T
NM_001375808.2(LPIN2):c.288+2T>G rs2143137428
NM_001375808.2(LPIN2):c.289-18T>C
NM_001375808.2(LPIN2):c.289-1G>T
NM_001375808.2(LPIN2):c.289-20C>T
NM_001375808.2(LPIN2):c.289-6C>T
NM_001375808.2(LPIN2):c.289-6_289-4del
NM_001375808.2(LPIN2):c.325C>T (p.Pro109Ser) rs2077534072
NM_001375808.2(LPIN2):c.330T>C (p.Thr110=)
NM_001375808.2(LPIN2):c.350A>C (p.Asp117Ala)
NM_001375808.2(LPIN2):c.359C>A (p.Thr120Asn) rs562075898
NM_001375808.2(LPIN2):c.374C>G (p.Ser125Trp) rs542116963
NM_001375808.2(LPIN2):c.375G>T (p.Ser125=) rs752271556
NM_001375808.2(LPIN2):c.393A>G (p.Pro131=)
NM_001375808.2(LPIN2):c.402T>C (p.Ser134=)
NM_001375808.2(LPIN2):c.410T>C (p.Ile137Thr) rs2077531992
NM_001375808.2(LPIN2):c.411C>T (p.Ile137=)
NM_001375808.2(LPIN2):c.413C>T (p.Ser138Leu)
NM_001375808.2(LPIN2):c.422T>C (p.Leu141Ser) rs763550824
NM_001375808.2(LPIN2):c.432G>A (p.Glu144=) rs2143107238
NM_001375808.2(LPIN2):c.434C>T (p.Thr145Ile)
NM_001375808.2(LPIN2):c.435A>G (p.Thr145=) rs867742294
NM_001375808.2(LPIN2):c.445C>T (p.Pro149Ser) rs376661021
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter)
NM_001375808.2(LPIN2):c.510G>A (p.Glu170=)
NM_001375808.2(LPIN2):c.523G>C (p.Ala175Pro) rs1334969199
NM_001375808.2(LPIN2):c.540A>G (p.Thr180=) rs151135579
NM_001375808.2(LPIN2):c.542G>A (p.Cys181Tyr)
NM_001375808.2(LPIN2):c.562G>A (p.Asp188Asn)
NM_001375808.2(LPIN2):c.578C>T (p.Ala193Val) rs1290039087
NM_001375808.2(LPIN2):c.582G>A (p.Gln194=) rs1555677025
NM_001375808.2(LPIN2):c.584C>G (p.Ala195Gly) rs1226336598
NM_001375808.2(LPIN2):c.590+11C>T rs2143104651
NM_001375808.2(LPIN2):c.590+5dup rs2077527998
NM_001375808.2(LPIN2):c.590+7C>T
NM_001375808.2(LPIN2):c.590+8TC[3] rs769949222
NM_001375808.2(LPIN2):c.590+9C>A rs773442071
NM_001375808.2(LPIN2):c.590+9C>G rs773442071
NM_001375808.2(LPIN2):c.590G>A (p.Arg197Gln) rs753918449
NM_001375808.2(LPIN2):c.591-11C>T
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp) rs746938405
NM_001375808.2(LPIN2):c.608C>A (p.Ser203Tyr)
NM_001375808.2(LPIN2):c.609C>T (p.Ser203=)
NM_001375808.2(LPIN2):c.60G>A (p.Lys20=)
NM_001375808.2(LPIN2):c.616GAA[2] (p.Glu208del) rs749710348
NM_001375808.2(LPIN2):c.629A>G (p.Lys210Arg)
NM_001375808.2(LPIN2):c.650C>G (p.Ser217Cys) rs2144209857
NM_001375808.2(LPIN2):c.658_660del (p.His220del) rs761910090
NM_001375808.2(LPIN2):c.659A>G (p.His220Arg)
NM_001375808.2(LPIN2):c.675T>C (p.Asp225=) rs2144209692
NM_001375808.2(LPIN2):c.689del (p.Pro230fs)
NM_001375808.2(LPIN2):c.696G>A (p.Glu232=)
NM_001375808.2(LPIN2):c.698+13G>T
NM_001375808.2(LPIN2):c.698+14A>G
NM_001375808.2(LPIN2):c.698+1G>A rs1449758984
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.698C>A (p.Thr233Asn) rs139654849
NM_001375808.2(LPIN2):c.699-13_699-12dup rs775605400
NM_001375808.2(LPIN2):c.699-19_699-16del rs760882217
NM_001375808.2(LPIN2):c.699-1G>T
NM_001375808.2(LPIN2):c.699-2A>G
NM_001375808.2(LPIN2):c.700A>G (p.Thr234Ala)
NM_001375808.2(LPIN2):c.702C>T (p.Thr234=) rs2144204821
NM_001375808.2(LPIN2):c.711G>A (p.Gln237=)
NM_001375808.2(LPIN2):c.71A>G (p.Gln24Arg) rs1568575278
NM_001375808.2(LPIN2):c.751C>A (p.Pro251Thr) rs1350091087
NM_001375808.2(LPIN2):c.753T>G (p.Pro251=)
NM_001375808.2(LPIN2):c.77C>T (p.Thr26Ile)
NM_001375808.2(LPIN2):c.79C>G (p.Leu27Val)
NM_001375808.2(LPIN2):c.807C>T (p.Phe269=)
NM_001375808.2(LPIN2):c.822+18C>T
NM_001375808.2(LPIN2):c.822+2T>G rs2144204081
NM_001375808.2(LPIN2):c.830A>G (p.Lys277Arg) rs1171826173
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001375808.2(LPIN2):c.842C>G (p.Ser281Cys) rs2144196740
NM_001375808.2(LPIN2):c.84T>C (p.Ser28=)
NM_001375808.2(LPIN2):c.863C>T (p.Ala288Val) rs766692933
NM_001375808.2(LPIN2):c.865A>G (p.Thr289Ala)
NM_001375808.2(LPIN2):c.895C>T (p.Arg299Trp)
NM_001375808.2(LPIN2):c.897G>C (p.Arg299=)
NM_001375808.2(LPIN2):c.934G>C (p.Glu312Gln)
NM_001375808.2(LPIN2):c.970A>T (p.Ile324Leu) rs1476358117
NM_001375808.2(LPIN2):c.99C>A (p.Val33=)
NM_001375808.2(LPIN2):c.99C>T (p.Val33=)
NM_001375808.2(LPIN2):c.9T>C (p.Tyr3=)

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