ClinVar Miner

List of variants reported as likely benign for hereditary hyperekplexia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 828
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His) rs75450512 0.00305
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val) rs55868891 0.00125
NM_004211.5(SLC6A5):c.1554C>T (p.Phe518=) rs143680068 0.00088
NM_000171.4(GLRA1):c.1166A>C (p.Asn389Thr) rs138173310 0.00071
NM_004211.5(SLC6A5):c.1738-8_1738-7del rs771768092 0.00060
NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val) rs200496125 0.00056
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542 0.00054
NM_000171.4(GLRA1):c.915G>A (p.Val305=) rs150716717 0.00043
NM_000824.5(GLRB):c.185G>A (p.Arg62Lys) rs144279427 0.00043
NM_000824.5(GLRB):c.822C>T (p.Tyr274=) rs147320218 0.00042
NM_004211.5(SLC6A5):c.1899C>T (p.Asp633=) rs139047641 0.00039
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) rs141039714 0.00034
NM_000824.5(GLRB):c.229+8T>G rs373221915 0.00034
NM_004211.5(SLC6A5):c.2125C>T (p.Arg709Cys) rs151244472 0.00034
NM_004211.5(SLC6A5):c.419C>A (p.Thr140Asn) rs144285788 0.00033
NM_000171.4(GLRA1):c.913-14C>A rs373113309 0.00026
NM_000171.4(GLRA1):c.522C>T (p.Pro174=) rs114046477 0.00025
NM_004211.5(SLC6A5):c.150T>G (p.Arg50=) rs772388914 0.00025
NM_000824.5(GLRB):c.1133G>A (p.Gly378Glu) rs149915285 0.00022
NM_000824.5(GLRB):c.222C>T (p.Asn74=) rs147802211 0.00022
NM_004211.5(SLC6A5):c.1077C>T (p.Phe359=) rs111388315 0.00020
NM_000171.4(GLRA1):c.1214G>A (p.Arg405Gln) rs199561280 0.00019
NM_004211.5(SLC6A5):c.1863C>T (p.Ile621=) rs147344601 0.00019
NM_000171.4(GLRA1):c.1031G>A (p.Arg344Gln) rs199618583 0.00018
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val) rs56110425 0.00016
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=) rs56182751 0.00016
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=) rs199625034 0.00016
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn) rs782577519 0.00015
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=) rs782580975 0.00015
NM_000171.4(GLRA1):c.297C>T (p.Pro99=) rs369500388 0.00014
NM_004211.5(SLC6A5):c.1059C>T (p.Asn353=) rs377270882 0.00014
NM_004211.5(SLC6A5):c.1046C>T (p.Thr349Ile) rs201604337 0.00012
NM_000824.5(GLRB):c.120A>G (p.Pro40=) rs144873205 0.00011
NM_004211.5(SLC6A5):c.1239A>G (p.Lys413=) rs1049082253 0.00011
NM_004211.5(SLC6A5):c.1627C>T (p.Pro543Ser) rs555858151 0.00011
NM_004211.5(SLC6A5):c.2166C>T (p.Leu722=) rs138242228 0.00011
NM_004211.5(SLC6A5):c.2258C>T (p.Ser753Leu) rs1715297 0.00011
NM_000171.4(GLRA1):c.1179C>T (p.Pro393=) rs772443569 0.00010
NM_000171.4(GLRA1):c.89G>A (p.Arg30His) rs199910297 0.00010
NM_000824.5(GLRB):c.540T>C (p.Thr180=) rs770664655 0.00009
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg) rs149863285 0.00009
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu) rs782248986 0.00009
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=) rs782354481 0.00009
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) rs145815177 0.00009
NM_001353921.2(ARHGEF9):c.31-29583C>A rs370045250 0.00009
NM_000824.5(GLRB):c.313A>G (p.Ile105Val) rs529837532 0.00008
NM_000824.5(GLRB):c.610+18T>A rs747212960 0.00008
NM_000824.5(GLRB):c.624T>C (p.Thr208=) rs200824493 0.00008
NM_000824.5(GLRB):c.838A>G (p.Ile280Val) rs199840817 0.00008
NM_004211.5(SLC6A5):c.1696A>G (p.Ile566Val) rs200003617 0.00008
NM_000171.4(GLRA1):c.23G>C (p.Arg8Pro) rs74542605 0.00007
NM_000824.5(GLRB):c.205C>T (p.Pro69Ser) rs555010961 0.00007
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=) rs1413001108 0.00007
NM_001353921.2(ARHGEF9):c.402+7A>T rs373304318 0.00007
NM_004211.5(SLC6A5):c.1261-12T>C rs765415133 0.00007
NM_000171.4(GLRA1):c.324C>T (p.Asp108=) rs762489154 0.00006
NM_000171.4(GLRA1):c.433T>C (p.Leu145=) rs371496582 0.00006
NM_000171.4(GLRA1):c.636G>A (p.Leu212=) rs377524694 0.00006
NM_000824.5(GLRB):c.1044A>G (p.Ala348=) rs139165593 0.00006
NM_000824.5(GLRB):c.1290T>C (p.Phe430=) rs767042497 0.00006
NM_000824.5(GLRB):c.298-13A>C rs371129516 0.00006
NM_000824.5(GLRB):c.298-6del rs774738353 0.00006
NM_000824.5(GLRB):c.882G>A (p.Ala294=) rs376097077 0.00006
NM_000824.5(GLRB):c.905-15T>C rs759530266 0.00006
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956 0.00006
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=) rs1057522740 0.00006
NM_004211.5(SLC6A5):c.1572C>T (p.Ile524=) rs139526317 0.00006
NM_004211.5(SLC6A5):c.1602C>T (p.Asn534=) rs770754817 0.00006
NM_004211.5(SLC6A5):c.1683G>A (p.Pro561=) rs147215703 0.00006
NM_004211.5(SLC6A5):c.21G>A (p.Lys7=) rs984820371 0.00006
NM_004211.5(SLC6A5):c.267G>T (p.Ala89=) rs569857405 0.00006
NM_004211.5(SLC6A5):c.309G>T (p.Ala103=) rs763390370 0.00006
NM_004211.5(SLC6A5):c.356A>G (p.His119Arg) rs201319465 0.00006
NM_004211.5(SLC6A5):c.541-15C>A rs546551639 0.00006
NM_000171.4(GLRA1):c.1174A>G (p.Asn392Asp) rs775599403 0.00005
NM_000171.4(GLRA1):c.657A>G (p.Glu219=) rs146034962 0.00005
NM_000824.5(GLRB):c.1338C>T (p.Asn446=) rs757748175 0.00005
NM_000824.5(GLRB):c.1458G>C (p.Leu486Phe) rs377603371 0.00005
NM_000824.5(GLRB):c.816G>A (p.Gly272=) rs1055997635 0.00005
NM_001353921.2(ARHGEF9):c.1390+18A>G rs782653539 0.00005
NM_001353921.2(ARHGEF9):c.1391-4C>G rs1556301481 0.00005
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=) rs782097997 0.00005
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu) rs369081815 0.00005
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=) rs55818901 0.00005
NM_004211.5(SLC6A5):c.169A>G (p.Thr57Ala) rs539354561 0.00005
NM_004211.5(SLC6A5):c.340C>T (p.Pro114Ser) rs746842267 0.00005
NM_004211.5(SLC6A5):c.726A>G (p.Leu242=) rs111550381 0.00005
NM_004211.5(SLC6A5):c.812-15T>C rs368287325 0.00005
NM_000171.4(GLRA1):c.1022A>G (p.Glu341Gly) rs77451630 0.00004
NM_000171.4(GLRA1):c.411T>C (p.His137=) rs1455947088 0.00004
NM_000171.4(GLRA1):c.449G>A (p.Arg150Gln) rs561848502 0.00004
NM_000171.4(GLRA1):c.858C>T (p.Thr286=) rs781137100 0.00004
NM_000824.5(GLRB):c.1293A>G (p.Glu431=) rs376189752 0.00004
NM_000824.5(GLRB):c.405C>T (p.Tyr135=) rs370272682 0.00004
NM_000824.5(GLRB):c.423T>C (p.Pro141=) rs145564477 0.00004
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=) rs138198839 0.00004
NM_004211.5(SLC6A5):c.1048G>A (p.Ala350Thr) rs759580965 0.00004
NM_004211.5(SLC6A5):c.1281G>A (p.Thr427=) rs148416271 0.00004
NM_004211.5(SLC6A5):c.1653G>A (p.Pro551=) rs200961564 0.00004
NM_004211.5(SLC6A5):c.1738-9C>T rs1230319643 0.00004
NM_004211.5(SLC6A5):c.183T>G (p.Thr61=) rs760268719 0.00004
NM_004211.5(SLC6A5):c.2268G>A (p.Pro756=) rs373204248 0.00004
NM_000171.4(GLRA1):c.1032A>G (p.Arg344=) rs78363193 0.00003
NM_000171.4(GLRA1):c.1045C>A (p.Arg349=) rs752071816 0.00003
NM_000171.4(GLRA1):c.198C>T (p.Asn66=) rs200606738 0.00003
NM_000171.4(GLRA1):c.476+8C>T rs776829161 0.00003
NM_000171.4(GLRA1):c.888C>T (p.Ser296=) rs192326771 0.00003
NM_000171.4(GLRA1):c.93C>T (p.Ser31=) rs376610236 0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_000171.4(GLRA1):c.981A>G (p.Leu327=) rs769499149 0.00003
NM_000824.5(GLRB):c.546A>C (p.Ser182=) rs551200623 0.00003
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=) rs782314375 0.00003
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg) rs371200226 0.00003
NM_001353921.2(ARHGEF9):c.583-18T>G rs1057521815 0.00003
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=) rs1322872780 0.00003
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=) rs1556358973 0.00003
NM_004211.5(SLC6A5):c.1287G>A (p.Pro429=) rs536309591 0.00003
NM_004211.5(SLC6A5):c.1293C>T (p.Val431=) rs367746184 0.00003
NM_004211.5(SLC6A5):c.1323C>T (p.Val441=) rs572329486 0.00003
NM_004211.5(SLC6A5):c.1776C>T (p.Asp592=) rs376668924 0.00003
NM_004211.5(SLC6A5):c.1948G>A (p.Val650Met) rs143967107 0.00003
NM_004211.5(SLC6A5):c.2127C>A (p.Arg709=) rs749237379 0.00003
NM_004211.5(SLC6A5):c.2280A>G (p.Pro760=) rs760968008 0.00003
NM_004211.5(SLC6A5):c.2290C>G (p.Gln764Glu) rs753956513 0.00003
NM_004211.5(SLC6A5):c.2298C>T (p.Arg766=) rs534286800 0.00003
NM_004211.5(SLC6A5):c.2322C>T (p.Ile774=) rs141663413 0.00003
NM_004211.5(SLC6A5):c.375G>T (p.Leu125=) rs563708600 0.00003
NM_004211.5(SLC6A5):c.66G>A (p.Ala22=) rs557384426 0.00003
NM_004211.5(SLC6A5):c.807A>G (p.Leu269=) rs1020431122 0.00003
NM_000171.4(GLRA1):c.1185T>C (p.Pro395=) rs368049933 0.00002
NM_000171.4(GLRA1):c.1326T>C (p.Arg442=) rs536795343 0.00002
NM_000171.4(GLRA1):c.150C>T (p.Ser50=) rs1402153449 0.00002
NM_000171.4(GLRA1):c.253-7G>A rs940690636 0.00002
NM_000171.4(GLRA1):c.477-5C>T rs560187719 0.00002
NM_000171.4(GLRA1):c.609C>T (p.Ala203=) rs773529731 0.00002
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) rs374982085 0.00002
NM_000824.5(GLRB):c.1197+20A>G rs761762172 0.00002
NM_000824.5(GLRB):c.207C>G (p.Pro69=) rs772979401 0.00002
NM_000824.5(GLRB):c.736T>C (p.Tyr246His) rs745824514 0.00002
NM_000824.5(GLRB):c.786G>A (p.Leu262=) rs780810946 0.00002
NM_000824.5(GLRB):c.904+13A>G rs752476441 0.00002
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=) rs1330960420 0.00002
NM_001353921.2(ARHGEF9):c.1078-19C>T rs1412565246 0.00002
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=) rs782387990 0.00002
NM_001353921.2(ARHGEF9):c.1390+11C>T rs782212638 0.00002
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=) rs782395885 0.00002
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=) rs781904925 0.00002
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln) rs782087438 0.00002
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys) rs782237174 0.00002
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=) rs1556389015 0.00002
NM_001353921.2(ARHGEF9):c.815+11G>A rs782246143 0.00002
NM_004211.5(SLC6A5):c.1007A>C (p.His336Pro) rs753404579 0.00002
NM_004211.5(SLC6A5):c.1200C>T (p.Leu400=) rs369502336 0.00002
NM_004211.5(SLC6A5):c.1251T>C (p.Thr417=) rs376466697 0.00002
NM_004211.5(SLC6A5):c.1260+18T>C rs768206940 0.00002
NM_004211.5(SLC6A5):c.1959T>C (p.Ser653=) rs201879532 0.00002
NM_004211.5(SLC6A5):c.390G>A (p.Gly130=) rs755829819 0.00002
NM_004211.5(SLC6A5):c.513G>A (p.Pro171=) rs1486407794 0.00002
NM_004211.5(SLC6A5):c.541-19T>C rs749443916 0.00002
NM_004211.5(SLC6A5):c.798C>T (p.Ile266=) rs746701792 0.00002
NM_004211.5(SLC6A5):c.825G>A (p.Ala275=) rs770266189 0.00002
NM_000171.4(GLRA1):c.1023G>A (p.Glu341=) rs1310367742 0.00001
NM_000171.4(GLRA1):c.1080C>T (p.Gly360=) rs1763178853 0.00001
NM_000171.4(GLRA1):c.1101T>C (p.Tyr367=) rs758811460 0.00001
NM_000171.4(GLRA1):c.1110C>T (p.Gly370=) rs779431245 0.00001
NM_000171.4(GLRA1):c.1152C>T (p.Gly384=) rs570002981 0.00001
NM_000171.4(GLRA1):c.1153G>A (p.Ala385Thr) rs761971337 0.00001
NM_000171.4(GLRA1):c.1161C>G (p.Asn387Lys) rs768970494 0.00001
NM_000171.4(GLRA1):c.1335C>T (p.Asp445=) rs767779482 0.00001
NM_000171.4(GLRA1):c.1341C>T (p.His447=) rs773707878 0.00001
NM_000171.4(GLRA1):c.185-9G>A rs371382193 0.00001
NM_000171.4(GLRA1):c.300C>T (p.Arg100=) rs1172371698 0.00001
NM_000171.4(GLRA1):c.306C>T (p.Ala102=) rs774085354 0.00001
NM_000171.4(GLRA1):c.378G>A (p.Leu126=) rs747286269 0.00001
NM_000171.4(GLRA1):c.42C>A (p.Thr14=) rs572343839 0.00001
NM_000171.4(GLRA1):c.480C>T (p.Ile160=) rs1413107798 0.00001
NM_000171.4(GLRA1):c.483C>G (p.Thr161=) rs773246071 0.00001
NM_000171.4(GLRA1):c.537A>C (p.Thr179=) rs770339430 0.00001
NM_000171.4(GLRA1):c.559+12G>A rs779606455 0.00001
NM_000171.4(GLRA1):c.570G>A (p.Thr190=) rs768174352 0.00001
NM_000171.4(GLRA1):c.697+9A>C rs886060280 0.00001
NM_000171.4(GLRA1):c.698-9T>C rs1166224628 0.00001
NM_000171.4(GLRA1):c.747T>C (p.Gly249=) rs1441470047 0.00001
NM_000171.4(GLRA1):c.913-12C>A rs1420894866 0.00001
NM_000171.4(GLRA1):c.913-8C>A rs768129276 0.00001
NM_000171.4(GLRA1):c.972A>G (p.Ser324=) rs762554462 0.00001
NM_000824.5(GLRB):c.123-7C>T rs1029530397 0.00001
NM_000824.5(GLRB):c.1230T>C (p.Thr410=) rs1235842918 0.00001
NM_000824.5(GLRB):c.132A>C (p.Ser44=) rs778930746 0.00001
NM_000824.5(GLRB):c.1386G>A (p.Ala462=) rs771819827 0.00001
NM_000824.5(GLRB):c.1414C>A (p.Arg472=) rs570886685 0.00001
NM_000824.5(GLRB):c.210G>A (p.Arg70=) rs1440659826 0.00001
NM_000824.5(GLRB):c.229+15T>C rs761155149 0.00001
NM_000824.5(GLRB):c.297+7T>C rs769096368 0.00001
NM_000824.5(GLRB):c.298-20C>T rs779389511 0.00001
NM_000824.5(GLRB):c.453C>G (p.Ala151=) rs372401049 0.00001
NM_000824.5(GLRB):c.610+7A>C rs758829852 0.00001
NM_000824.5(GLRB):c.752-15G>A rs1297406909 0.00001
NM_000824.5(GLRB):c.798C>T (p.Val266=) rs148773767 0.00001
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=) rs1556334992 0.00001
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=) rs1556334802 0.00001
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=) rs781947373 0.00001
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=) rs1556334685 0.00001
NM_001353921.2(ARHGEF9):c.1322-17A>T rs782417263 0.00001
NM_001353921.2(ARHGEF9):c.1391-12C>T rs2047417425 0.00001
NM_001353921.2(ARHGEF9):c.1391-5T>C rs1181371428 0.00001
NM_001353921.2(ARHGEF9):c.1391-7A>G rs1602145711 0.00001
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=) rs782705959 0.00001
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=) rs782665661 0.00001
NM_001353921.2(ARHGEF9):c.1506C>T (p.Thr502=) rs782129771 0.00001
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=) rs782806516 0.00001
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=) rs1367866917 0.00001
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=) rs782671712 0.00001
NM_001353921.2(ARHGEF9):c.30+20G>A rs1556464456 0.00001
NM_001353921.2(ARHGEF9):c.31-10G>T rs782313914 0.00001
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=) rs781834665 0.00001
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=) rs782079969 0.00001
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=) rs781937951 0.00001
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) rs782139620 0.00001
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=) rs1556365249 0.00001
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=) rs1556365224 0.00001
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=) rs782598343 0.00001
NM_001353921.2(ARHGEF9):c.946-19C>A rs1159447904 0.00001
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=) rs141158169 0.00001
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=) rs1556347447 0.00001
NM_004211.5(SLC6A5):c.1026G>A (p.Lys342=) rs368128242 0.00001
NM_004211.5(SLC6A5):c.1032G>A (p.Ser344=) rs758648041 0.00001
NM_004211.5(SLC6A5):c.1170C>T (p.Gly390=) rs369546941 0.00001
NM_004211.5(SLC6A5):c.1260+16T>C rs1852813438 0.00001
NM_004211.5(SLC6A5):c.1266G>A (p.Val422=) rs766480639 0.00001
NM_004211.5(SLC6A5):c.1275G>A (p.Thr425=) rs371391494 0.00001
NM_004211.5(SLC6A5):c.1470T>C (p.Ser490=) rs1027077568 0.00001
NM_004211.5(SLC6A5):c.1499+13A>G rs370366356 0.00001
NM_004211.5(SLC6A5):c.1533C>T (p.Ala511=) rs368623393 0.00001
NM_004211.5(SLC6A5):c.1624+9C>T rs745823180 0.00001
NM_004211.5(SLC6A5):c.1704C>T (p.Phe568=) rs1348780417 0.00001
NM_004211.5(SLC6A5):c.1869+10C>T rs757029224 0.00001
NM_004211.5(SLC6A5):c.1902C>T (p.Thr634=) rs755575687 0.00001
NM_004211.5(SLC6A5):c.1914C>T (p.Ser638=) rs1240241197 0.00001
NM_004211.5(SLC6A5):c.1926C>T (p.Val642=) rs770858807 0.00001
NM_004211.5(SLC6A5):c.1962T>C (p.Tyr654=) rs751120377 0.00001
NM_004211.5(SLC6A5):c.2112C>T (p.Thr704=) rs1251486699 0.00001
NM_004211.5(SLC6A5):c.2115T>C (p.Tyr705=) rs766659746 0.00001
NM_004211.5(SLC6A5):c.2151C>T (p.Leu717=) rs150429051 0.00001
NM_004211.5(SLC6A5):c.2362G>A (p.Val788Met) rs774095713 0.00001
NM_004211.5(SLC6A5):c.2377C>T (p.Leu793=) rs1341473905 0.00001
NM_004211.5(SLC6A5):c.3+20C>T rs777931284 0.00001
NM_004211.5(SLC6A5):c.4-11T>C rs774039277 0.00001
NM_004211.5(SLC6A5):c.45C>T (p.Asn15=) rs779446341 0.00001
NM_004211.5(SLC6A5):c.528C>T (p.Thr176=) rs573629406 0.00001
NM_004211.5(SLC6A5):c.534C>T (p.Ala178=) rs1315392036 0.00001
NM_004211.5(SLC6A5):c.621C>T (p.Tyr207=) rs781151093 0.00001
NM_004211.5(SLC6A5):c.813C>T (p.Gly271=) rs1401531960 0.00001
NM_004211.5(SLC6A5):c.822C>T (p.Ile274=) rs776289288 0.00001
NM_004211.5(SLC6A5):c.916C>T (p.Leu306=) rs121908496 0.00001
NM_004211.5(SLC6A5):c.921C>T (p.Pro307=) rs566070819 0.00001
NM_004211.5(SLC6A5):c.985+10G>C rs1479664288 0.00001
NM_000171.4(GLRA1):c.1059+12G>T
NM_000171.4(GLRA1):c.1059+14T>C rs1474660982
NM_000171.4(GLRA1):c.1059+15_1059+18dup
NM_000171.4(GLRA1):c.1059+18T>G rs763830285
NM_000171.4(GLRA1):c.1059+19G>A
NM_000171.4(GLRA1):c.1059+7C>A
NM_000171.4(GLRA1):c.1059+8T>G
NM_000171.4(GLRA1):c.1060-10T>A rs2113277422
NM_000171.4(GLRA1):c.1060-20C>T
NM_000171.4(GLRA1):c.1060-4C>A rs1581592732
NM_000171.4(GLRA1):c.1060-7A>C
NM_000171.4(GLRA1):c.1074A>G (p.Gly358=)
NM_000171.4(GLRA1):c.1134T>C (p.Asp378=) rs763726024
NM_000171.4(GLRA1):c.1149G>A (p.Lys383=)
NM_000171.4(GLRA1):c.1176C>T (p.Asn392=)
NM_000171.4(GLRA1):c.1179C>A (p.Pro393=) rs772443569
NM_000171.4(GLRA1):c.117G>A (p.Ser39=) rs149023945
NM_000171.4(GLRA1):c.1239G>A (p.Lys413=) rs2113276577
NM_000171.4(GLRA1):c.1245C>T (p.Ile415=) rs759936512
NM_000171.4(GLRA1):c.126G>A (p.Leu42=) rs753072382
NM_000171.4(GLRA1):c.1284C>T (p.Leu428=) rs1581592341
NM_000171.4(GLRA1):c.1293C>T (p.Asn431=) rs1763170405
NM_000171.4(GLRA1):c.147C>G (p.Thr49=) rs1754099297
NM_000171.4(GLRA1):c.162C>T (p.Ala54=)
NM_000171.4(GLRA1):c.184+11T>G
NM_000171.4(GLRA1):c.184+12A>T
NM_000171.4(GLRA1):c.184+14T>G
NM_000171.4(GLRA1):c.184+19C>A
NM_000171.4(GLRA1):c.185-15T>C
NM_000171.4(GLRA1):c.185-7T>C
NM_000171.4(GLRA1):c.18T>A (p.Thr6=)
NM_000171.4(GLRA1):c.204C>T (p.Ser68=)
NM_000171.4(GLRA1):c.252+17A>G
NM_000171.4(GLRA1):c.253-18_253-16del rs376416020
NM_000171.4(GLRA1):c.253-8G>C
NM_000171.4(GLRA1):c.253-9T>C
NM_000171.4(GLRA1):c.274C>T (p.Leu92=)
NM_000171.4(GLRA1):c.277C>A (p.Arg93=) rs199547699
NM_000171.4(GLRA1):c.291C>T (p.Asn97=)
NM_000171.4(GLRA1):c.30C>T (p.Tyr10=) rs1297899786
NM_000171.4(GLRA1):c.33T>C (p.Leu11=) rs1754960207
NM_000171.4(GLRA1):c.360C>A (p.Ser120=)
NM_000171.4(GLRA1):c.378G>T (p.Leu126=) rs747286269
NM_000171.4(GLRA1):c.39G>A (p.Glu13=) rs141704405
NM_000171.4(GLRA1):c.423A>G (p.Thr141=) rs1425567448
NM_000171.4(GLRA1):c.429C>T (p.Asn143=) rs1253160169
NM_000171.4(GLRA1):c.42C>T (p.Thr14=)
NM_000171.4(GLRA1):c.435G>A (p.Leu145=)
NM_000171.4(GLRA1):c.459T>C (p.Asn153=) rs575951950
NM_000171.4(GLRA1):c.45T>C (p.Ile15=) rs760969146
NM_000171.4(GLRA1):c.468C>T (p.Tyr156=) rs2113358884
NM_000171.4(GLRA1):c.471C>T (p.Ser157=) rs2113358874
NM_000171.4(GLRA1):c.476+10G>C rs557783325
NM_000171.4(GLRA1):c.476+20A>G
NM_000171.4(GLRA1):c.477-13C>T
NM_000171.4(GLRA1):c.477-14C>T
NM_000171.4(GLRA1):c.477-15C>T
NM_000171.4(GLRA1):c.490C>T (p.Leu164=)
NM_000171.4(GLRA1):c.51C>T (p.Phe17=) rs2113471944
NM_000171.4(GLRA1):c.54C>T (p.Phe18=) rs1754958953
NM_000171.4(GLRA1):c.559+16G>C
NM_000171.4(GLRA1):c.559+18G>C
NM_000171.4(GLRA1):c.559+19T>C
NM_000171.4(GLRA1):c.560-15C>T
NM_000171.4(GLRA1):c.560-16T>C
NM_000171.4(GLRA1):c.560-4C>G rs2113350145
NM_000171.4(GLRA1):c.560-8C>T rs1391710473
NM_000171.4(GLRA1):c.560-9C>G rs1303387683
NM_000171.4(GLRA1):c.560-9C>T
NM_000171.4(GLRA1):c.564A>G (p.Gly188=)
NM_000171.4(GLRA1):c.57-14C>G
NM_000171.4(GLRA1):c.57-15T>C
NM_000171.4(GLRA1):c.57-16CT[2]
NM_000171.4(GLRA1):c.621A>C (p.Ala207=)
NM_000171.4(GLRA1):c.624T>C (p.Asp208=)
NM_000171.4(GLRA1):c.681C>A (p.Thr227=)
NM_000171.4(GLRA1):c.690C>T (p.Tyr230=)
NM_000171.4(GLRA1):c.697+17C>T
NM_000171.4(GLRA1):c.697+8C>A rs1753002579
NM_000171.4(GLRA1):c.699T>A (p.Gly233=)
NM_000171.4(GLRA1):c.699T>C (p.Gly233=)
NM_000171.4(GLRA1):c.720C>T (p.Ala240=)
NM_000171.4(GLRA1):c.753C>T (p.Tyr251=) rs770544327
NM_000171.4(GLRA1):c.774C>G (p.Pro258=)
NM_000171.4(GLRA1):c.786T>C (p.Ile262=) rs2113343560
NM_000171.4(GLRA1):c.798A>C (p.Ser266=) rs1581616753
NM_000171.4(GLRA1):c.798A>G (p.Ser266=) rs1581616753
NM_000171.4(GLRA1):c.807C>T (p.Ser269=)
NM_000171.4(GLRA1):c.843G>A (p.Val281=)
NM_000171.4(GLRA1):c.876C>G (p.Thr292=)
NM_000171.4(GLRA1):c.879C>G (p.Thr293=)
NM_000171.4(GLRA1):c.888C>A (p.Ser296=) rs192326771
NM_000171.4(GLRA1):c.912+10A>T rs1047432199
NM_000171.4(GLRA1):c.912+11T>C
NM_000171.4(GLRA1):c.912+11_912+12insCTC rs2113343212
NM_000171.4(GLRA1):c.912+12T>C
NM_000171.4(GLRA1):c.912+7C>T rs2113343240
NM_000171.4(GLRA1):c.912+8_912+9insTGCCGGCTCTCGAG rs2113343234
NM_000171.4(GLRA1):c.913-16del
NM_000171.4(GLRA1):c.913-19T>G
NM_000171.4(GLRA1):c.913-5T>C
NM_000171.4(GLRA1):c.913-6dup rs2113290193
NM_000171.4(GLRA1):c.913-8C>T rs768129276
NM_000171.4(GLRA1):c.936C>T (p.Asp312=) rs1217083281
NM_000171.4(GLRA1):c.951T>G (p.Val317=)
NM_000171.4(GLRA1):c.990T>C (p.Ala330=)
NM_000171.4(GLRA1):c.99C>A (p.Pro33=)
NM_000824.5(GLRB):c.1020G>A (p.Gly340=) rs1302379622
NM_000824.5(GLRB):c.1026T>C (p.Ala342=)
NM_000824.5(GLRB):c.1029C>T (p.Ser343=)
NM_000824.5(GLRB):c.1074A>G (p.Lys358=)
NM_000824.5(GLRB):c.1077G>A (p.Arg359=)
NM_000824.5(GLRB):c.1197+14T>C
NM_000824.5(GLRB):c.1197+14_1197+16del
NM_000824.5(GLRB):c.1198-12A>G
NM_000824.5(GLRB):c.1198-15A>T rs2126637455
NM_000824.5(GLRB):c.1198-4T>C
NM_000824.5(GLRB):c.1198-5C>T
NM_000824.5(GLRB):c.122+12A>G
NM_000824.5(GLRB):c.122+16C>G
NM_000824.5(GLRB):c.123-14TC[3] rs2126530317
NM_000824.5(GLRB):c.123-16_123-14del rs1735775884
NM_000824.5(GLRB):c.1245G>A (p.Leu415=)
NM_000824.5(GLRB):c.1248A>G (p.Arg416=)
NM_000824.5(GLRB):c.1281A>C (p.Pro427=)
NM_000824.5(GLRB):c.1347G>A (p.Gly449=)
NM_000824.5(GLRB):c.1353T>C (p.Ser451=)
NM_000824.5(GLRB):c.1359T>C (p.Ala453=)
NM_000824.5(GLRB):c.135A>G (p.Ala45=)
NM_000824.5(GLRB):c.1385C>T (p.Ala462Val) rs148031091
NM_000824.5(GLRB):c.1389A>G (p.Lys463=)
NM_000824.5(GLRB):c.1410A>G (p.Ala470=)
NM_000824.5(GLRB):c.144T>A (p.Leu48=) rs2126530450
NM_000824.5(GLRB):c.1452C>T (p.Cys484=)
NM_000824.5(GLRB):c.1473A>T (p.Ile491=)
NM_000824.5(GLRB):c.15G>A (p.Leu5=)
NM_000824.5(GLRB):c.190T>C (p.Leu64=)
NM_000824.5(GLRB):c.229+12C>T
NM_000824.5(GLRB):c.230-12T>A
NM_000824.5(GLRB):c.230-14A>C
NM_000824.5(GLRB):c.230-14A>T
NM_000824.5(GLRB):c.230-17T>A
NM_000824.5(GLRB):c.230-17T>C
NM_000824.5(GLRB):c.230-20T>A
NM_000824.5(GLRB):c.252C>G (p.Val84=)
NM_000824.5(GLRB):c.255C>T (p.Asn85=)
NM_000824.5(GLRB):c.297+12A>G
NM_000824.5(GLRB):c.297+17T>C
NM_000824.5(GLRB):c.298-15G>T
NM_000824.5(GLRB):c.298-16T>C
NM_000824.5(GLRB):c.298-19G>A rs371067472
NM_000824.5(GLRB):c.298-19G>T rs371067472
NM_000824.5(GLRB):c.354C>T (p.Leu118=)
NM_000824.5(GLRB):c.366T>C (p.Phe122=)
NM_000824.5(GLRB):c.369G>A (p.Arg123=) rs757163799
NM_000824.5(GLRB):c.420A>G (p.Lys140=)
NM_000824.5(GLRB):c.441T>C (p.Asn147=)
NM_000824.5(GLRB):c.444A>G (p.Glu148=)
NM_000824.5(GLRB):c.45G>A (p.Leu15=) rs775265167
NM_000824.5(GLRB):c.465T>C (p.Asp155=) rs2126566483
NM_000824.5(GLRB):c.480C>T (p.Asn160=)
NM_000824.5(GLRB):c.489C>G (p.Leu163=)
NM_000824.5(GLRB):c.527+12T>A rs2126566733
NM_000824.5(GLRB):c.527+18A>G
NM_000824.5(GLRB):c.528-12T>C
NM_000824.5(GLRB):c.528-12T>G
NM_000824.5(GLRB):c.528-17C>T
NM_000824.5(GLRB):c.528-18A>G
NM_000824.5(GLRB):c.528-8G>A
NM_000824.5(GLRB):c.528-8G>T
NM_000824.5(GLRB):c.531A>G (p.Leu177=)
NM_000824.5(GLRB):c.540T>G (p.Thr180=)
NM_000824.5(GLRB):c.54A>G (p.Glu18=)
NM_000824.5(GLRB):c.564A>T (p.Thr188=)
NM_000824.5(GLRB):c.565T>C (p.Leu189=) rs2126567165
NM_000824.5(GLRB):c.573C>T (p.Pro191=)
NM_000824.5(GLRB):c.600A>G (p.Gln200=) rs2126567257
NM_000824.5(GLRB):c.60C>T (p.Ala20=)
NM_000824.5(GLRB):c.610+15A>T
NM_000824.5(GLRB):c.610+17A>C
NM_000824.5(GLRB):c.610+17A>G
NM_000824.5(GLRB):c.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_000824.5(GLRB):c.611-10T>C
NM_000824.5(GLRB):c.611-14G>T
NM_000824.5(GLRB):c.611-18A>G
NM_000824.5(GLRB):c.621A>G (p.Thr207=)
NM_000824.5(GLRB):c.648G>A (p.Gln216=) rs2126571916
NM_000824.5(GLRB):c.66T>C (p.Ser22=)
NM_000824.5(GLRB):c.684G>A (p.Leu228=)
NM_000824.5(GLRB):c.690A>G (p.Gln230=)
NM_000824.5(GLRB):c.693T>C (p.Phe231=)
NM_000824.5(GLRB):c.6G>A (p.Lys2=)
NM_000824.5(GLRB):c.741T>C (p.Tyr247=)
NM_000824.5(GLRB):c.751+11T>C rs746886538
NM_000824.5(GLRB):c.751+13C>G
NM_000824.5(GLRB):c.751+14T>C
NM_000824.5(GLRB):c.752-13T>C rs2126583381
NM_000824.5(GLRB):c.752-4A>G
NM_000824.5(GLRB):c.752-6T>C rs2126583392
NM_000824.5(GLRB):c.777C>A (p.Ile259=) rs2126583488
NM_000824.5(GLRB):c.807C>T (p.Tyr269=)
NM_000824.5(GLRB):c.816G>T (p.Gly272=)
NM_000824.5(GLRB):c.837C>G (p.Leu279=)
NM_000824.5(GLRB):c.846T>C (p.Val282=) rs2126583832
NM_000824.5(GLRB):c.849C>T (p.Leu283=)
NM_000824.5(GLRB):c.861C>T (p.Ser287=)
NM_000824.5(GLRB):c.876G>A (p.Pro292=)
NM_000824.5(GLRB):c.879C>T (p.Asp293=)
NM_000824.5(GLRB):c.904+15G>A
NM_000824.5(GLRB):c.904+4A>G rs76714257
NM_000824.5(GLRB):c.905-16C>T
NM_000824.5(GLRB):c.909C>T (p.Ile303=)
NM_000824.5(GLRB):c.918C>T (p.Val306=)
NM_000824.5(GLRB):c.924C>T (p.Ser308=)
NM_000824.5(GLRB):c.930C>T (p.Ala310=)
NM_000824.5(GLRB):c.945C>A (p.Thr315=) rs747493770
NM_000824.5(GLRB):c.945C>G (p.Thr315=) rs747493770
NM_000824.5(GLRB):c.945C>T (p.Thr315=) rs747493770
NM_000824.5(GLRB):c.951C>G (p.Ala317=) rs748373061
NM_000824.5(GLRB):c.951C>T (p.Ala317=) rs748373061
NM_000824.5(GLRB):c.96G>A (p.Gly32=)
NM_001353921.2(ARHGEF9):c.100T>C (p.Leu34=)
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=) rs2049510920
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=) rs370689173
NM_001353921.2(ARHGEF9):c.1077+10C>T
NM_001353921.2(ARHGEF9):c.1077+18T>C
NM_001353921.2(ARHGEF9):c.1077+19T>G rs2147265464
NM_001353921.2(ARHGEF9):c.1077+7C>G rs2147265578
NM_001353921.2(ARHGEF9):c.1077+8T>C
NM_001353921.2(ARHGEF9):c.1078-13C>T
NM_001353921.2(ARHGEF9):c.1078-18C>A
NM_001353921.2(ARHGEF9):c.1078-18C>T rs781901799
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
NM_001353921.2(ARHGEF9):c.1107C>T (p.Tyr369=)
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn) rs2048829340
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=) rs2147218180
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=) rs2147624145
NM_001353921.2(ARHGEF9):c.1321+18A>G
NM_001353921.2(ARHGEF9):c.1322-10T>C rs2147143891
NM_001353921.2(ARHGEF9):c.1322-19A>G
NM_001353921.2(ARHGEF9):c.1390+13C>T
NM_001353921.2(ARHGEF9):c.1391-14C>A
NM_001353921.2(ARHGEF9):c.1391-16C>T
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
NM_001353921.2(ARHGEF9):c.1458G>A (p.Gln486=)
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=) rs374753195
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile) rs2147114206
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys) rs781823638
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=) rs1602577401
NM_001353921.2(ARHGEF9):c.211-13C>A
NM_001353921.2(ARHGEF9):c.211-5C>T rs1569481993
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=) rs868932053
NM_001353921.2(ARHGEF9):c.237G>C (p.Val79=)
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=) rs2147508633
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=) rs1413001108
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
NM_001353921.2(ARHGEF9):c.30+9A>C rs2147835548
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
NM_001353921.2(ARHGEF9):c.31-29577C>T
NM_001353921.2(ARHGEF9):c.31-29579C>T
NM_001353921.2(ARHGEF9):c.31-5C>T
NM_001353921.2(ARHGEF9):c.31-6C>T
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=) rs2147507989
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
NM_001353921.2(ARHGEF9):c.402+15T>C rs2147507524
NM_001353921.2(ARHGEF9):c.402+20T>C
NM_001353921.2(ARHGEF9):c.402+8T>C
NM_001353921.2(ARHGEF9):c.403-12C>G
NM_001353921.2(ARHGEF9):c.403-17T>C
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=) rs2147451122
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=) rs782187939
NM_001353921.2(ARHGEF9):c.582+10T>A
NM_001353921.2(ARHGEF9):c.582+10_582+14del rs1556388923
NM_001353921.2(ARHGEF9):c.582+18T>C
NM_001353921.2(ARHGEF9):c.583-11dup rs782366734
NM_001353921.2(ARHGEF9):c.583-14T>C
NM_001353921.2(ARHGEF9):c.583-17T>G rs2147334936
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=) rs2147334626
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=) rs2147624503
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=) rs369716500
NM_001353921.2(ARHGEF9):c.815+10C>T
NM_001353921.2(ARHGEF9):c.815+18T>C
NM_001353921.2(ARHGEF9):c.815+8A>G rs1464003224
NM_001353921.2(ARHGEF9):c.815+8A>T rs1464003224
NM_001353921.2(ARHGEF9):c.816-10G>A
NM_001353921.2(ARHGEF9):c.816-16T>C
NM_001353921.2(ARHGEF9):c.816-18A>C
NM_001353921.2(ARHGEF9):c.816-9T>C rs1057522347
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=) rs1135401795
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=) rs782362648
NM_001353921.2(ARHGEF9):c.939C>T (p.Asp313=)
NM_001353921.2(ARHGEF9):c.93C>T (p.Asn31=)
NM_001353921.2(ARHGEF9):c.946-13A>C
NM_001353921.2(ARHGEF9):c.946-17T>A
NM_001353921.2(ARHGEF9):c.946-18A>G
NM_004211.5(SLC6A5):c.1023C>T (p.Ile341=)
NM_004211.5(SLC6A5):c.1035T>G (p.Thr345=)
NM_004211.5(SLC6A5):c.1047C>G (p.Thr349=)
NM_004211.5(SLC6A5):c.1062G>A (p.Val354=) rs1372389585
NM_004211.5(SLC6A5):c.1125C>T (p.Phe375=)
NM_004211.5(SLC6A5):c.1127+19T>C
NM_004211.5(SLC6A5):c.1127+8G>T
NM_004211.5(SLC6A5):c.1128-11C>A rs771874539
NM_004211.5(SLC6A5):c.1128-15C>G rs2133788151
NM_004211.5(SLC6A5):c.1137G>T (p.Val379=)
NM_004211.5(SLC6A5):c.1170C>A (p.Gly390=)
NM_004211.5(SLC6A5):c.1176C>A (p.Ile392=) rs2133788262
NM_004211.5(SLC6A5):c.1185A>G (p.Pro395=)
NM_004211.5(SLC6A5):c.1185A>T (p.Pro395=)
NM_004211.5(SLC6A5):c.1230A>C (p.Ser410=) rs7925597
NM_004211.5(SLC6A5):c.123C>A (p.Pro41=)
NM_004211.5(SLC6A5):c.1245C>T (p.Ile415=)
NM_004211.5(SLC6A5):c.1260+13A>G rs546552269
NM_004211.5(SLC6A5):c.1260+9T>C
NM_004211.5(SLC6A5):c.1261-13A>G
NM_004211.5(SLC6A5):c.1261-17G>A rs1853001259
NM_004211.5(SLC6A5):c.1261-19C>A rs2133798376
NM_004211.5(SLC6A5):c.1261-5T>C rs1853001503
NM_004211.5(SLC6A5):c.1261-9C>T
NM_004211.5(SLC6A5):c.126G>T (p.Ala42=)
NM_004211.5(SLC6A5):c.1284C>T (p.Phe428=)
NM_004211.5(SLC6A5):c.1299C>T (p.Leu433=)
NM_004211.5(SLC6A5):c.1305C>A (p.Ile435=)
NM_004211.5(SLC6A5):c.1311C>T (p.Leu437=)
NM_004211.5(SLC6A5):c.1329G>A (p.Leu443=) rs1756211369
NM_004211.5(SLC6A5):c.132C>A (p.Ala44=)
NM_004211.5(SLC6A5):c.132C>G (p.Ala44=)
NM_004211.5(SLC6A5):c.1332T>A (p.Pro444=) rs1373803710
NM_004211.5(SLC6A5):c.1335A>T (p.Gly445=)
NM_004211.5(SLC6A5):c.1338T>G (p.Ala446=) rs766390257
NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly) rs755131121
NM_004211.5(SLC6A5):c.135C>T (p.Ala45=)
NM_004211.5(SLC6A5):c.1386G>A (p.Thr462=) rs544994371
NM_004211.5(SLC6A5):c.1386G>T (p.Thr462=) rs544994371
NM_004211.5(SLC6A5):c.1386_1387delinsAA (p.Asp463Asn) rs2133798628
NM_004211.5(SLC6A5):c.1395+12A>G
NM_004211.5(SLC6A5):c.1395+16T>C
NM_004211.5(SLC6A5):c.1396-12T>C
NM_004211.5(SLC6A5):c.1396-13T>A
NM_004211.5(SLC6A5):c.1396-15C>T
NM_004211.5(SLC6A5):c.1396-16C>G rs2133799962
NM_004211.5(SLC6A5):c.1396-19T>A
NM_004211.5(SLC6A5):c.1396-19T>C
NM_004211.5(SLC6A5):c.1396-5C>A
NM_004211.5(SLC6A5):c.1396-6T>C
NM_004211.5(SLC6A5):c.1396-7C>A
NM_004211.5(SLC6A5):c.1396-8C>T
NM_004211.5(SLC6A5):c.1407T>C (p.Asp469=) rs1853033038
NM_004211.5(SLC6A5):c.1443A>G (p.Ala481=) rs1352575247
NM_004211.5(SLC6A5):c.1443A>T (p.Ala481=) rs1352575247
NM_004211.5(SLC6A5):c.1449A>C (p.Gly483=)
NM_004211.5(SLC6A5):c.144G>C (p.Pro48=)
NM_004211.5(SLC6A5):c.1452C>G (p.Gly484=)
NM_004211.5(SLC6A5):c.1473C>T (p.Tyr491=)
NM_004211.5(SLC6A5):c.1500-13C>T
NM_004211.5(SLC6A5):c.1500-16G>T
NM_004211.5(SLC6A5):c.1500-20C>T rs1463013210
NM_004211.5(SLC6A5):c.1500-4C>T
NM_004211.5(SLC6A5):c.1506T>C (p.Thr502=)
NM_004211.5(SLC6A5):c.1548C>A (p.Ala516=)
NM_004211.5(SLC6A5):c.1560C>T (p.Ile520=)
NM_004211.5(SLC6A5):c.1563C>T (p.Phe521=)
NM_004211.5(SLC6A5):c.1566C>T (p.Ser522=)
NM_004211.5(SLC6A5):c.1599C>G (p.Val533=) rs1590171374
NM_004211.5(SLC6A5):c.1620C>T (p.Asp540=)
NM_004211.5(SLC6A5):c.1624+19C>G
NM_004211.5(SLC6A5):c.1624+7G>A
NM_004211.5(SLC6A5):c.1625-10T>C
NM_004211.5(SLC6A5):c.1625-10T>G
NM_004211.5(SLC6A5):c.1625-11G>C rs2133808346
NM_004211.5(SLC6A5):c.1625-13T>G
NM_004211.5(SLC6A5):c.1625-7C>T rs1853204334
NM_004211.5(SLC6A5):c.1625-9T>C
NM_004211.5(SLC6A5):c.162C>A (p.Ser54=)
NM_004211.5(SLC6A5):c.1632C>T (p.Gly544=) rs1050225812
NM_004211.5(SLC6A5):c.1659C>T (p.Ala553=)
NM_004211.5(SLC6A5):c.1671G>T (p.Leu557=) rs1565284979
NM_004211.5(SLC6A5):c.1677C>T (p.Leu559=)
NM_004211.5(SLC6A5):c.1713C>T (p.Leu571=) rs192169080
NM_004211.5(SLC6A5):c.1731C>T (p.Asp577=)
NM_004211.5(SLC6A5):c.1738-11C>T
NM_004211.5(SLC6A5):c.1738-15C>T rs766857863
NM_004211.5(SLC6A5):c.1738-20A>G
NM_004211.5(SLC6A5):c.1749C>A (p.Ile583=) rs372092287
NM_004211.5(SLC6A5):c.1749C>T (p.Ile583=)
NM_004211.5(SLC6A5):c.1779G>A (p.Glu593=) rs2133809419
NM_004211.5(SLC6A5):c.1792C>T (p.Leu598=)
NM_004211.5(SLC6A5):c.1824C>G (p.Gly608=)
NM_004211.5(SLC6A5):c.1857A>G (p.Pro619=)
NM_004211.5(SLC6A5):c.1869+16G>A
NM_004211.5(SLC6A5):c.1869+9C>T
NM_004211.5(SLC6A5):c.1870-15T>C
NM_004211.5(SLC6A5):c.1870-18G>T
NM_004211.5(SLC6A5):c.1870-5G>A
NM_004211.5(SLC6A5):c.1872T>G (p.Gly624=) rs969805899
NM_004211.5(SLC6A5):c.1881C>T (p.Tyr627=)
NM_004211.5(SLC6A5):c.18C>T (p.Pro6=) rs764731779
NM_004211.5(SLC6A5):c.1905T>C (p.Tyr635=)
NM_004211.5(SLC6A5):c.1920C>T (p.Ala640=)
NM_004211.5(SLC6A5):c.1929C>T (p.Ile643=)
NM_004211.5(SLC6A5):c.1935C>T (p.Ala645=)
NM_004211.5(SLC6A5):c.1947C>T (p.Leu649=)
NM_004211.5(SLC6A5):c.195G>A (p.Ala65=)
NM_004211.5(SLC6A5):c.1969+16T>C rs898046982
NM_004211.5(SLC6A5):c.1969+19C>T rs1853255150
NM_004211.5(SLC6A5):c.1969+20T>C rs2133810934
NM_004211.5(SLC6A5):c.1970-10C>A
NM_004211.5(SLC6A5):c.1970-16G>C
NM_004211.5(SLC6A5):c.1970-4G>T
NM_004211.5(SLC6A5):c.1970-8A>G
NM_004211.5(SLC6A5):c.1970-9T>C rs2133819196
NM_004211.5(SLC6A5):c.1971C>G (p.Gly657=)
NM_004211.5(SLC6A5):c.1980A>G (p.Arg660=)
NM_004211.5(SLC6A5):c.201G>A (p.Ala67=) rs750917084
NM_004211.5(SLC6A5):c.2025C>T (p.Ile675=)
NM_004211.5(SLC6A5):c.2026T>G (p.Phe676Val) rs562578394
NM_004211.5(SLC6A5):c.204A>G (p.Arg68=)
NM_004211.5(SLC6A5):c.2070+16G>A
NM_004211.5(SLC6A5):c.2071-11T>C
NM_004211.5(SLC6A5):c.2071-7T>C
NM_004211.5(SLC6A5):c.2151C>G (p.Leu717=)
NM_004211.5(SLC6A5):c.2175C>T (p.Ser725=)
NM_004211.5(SLC6A5):c.2217G>A (p.Leu739=)
NM_004211.5(SLC6A5):c.2239-8del
NM_004211.5(SLC6A5):c.2241G>A (p.Arg747=)
NM_004211.5(SLC6A5):c.2259G>A (p.Ser753=)
NM_004211.5(SLC6A5):c.2259G>T (p.Ser753=) rs369433798
NM_004211.5(SLC6A5):c.225A>G (p.Pro75=) rs1205577391
NM_004211.5(SLC6A5):c.228A>T (p.Gly76=)
NM_004211.5(SLC6A5):c.2293C>A (p.His765Asn)
NM_004211.5(SLC6A5):c.2310C>T (p.Tyr770=)
NM_004211.5(SLC6A5):c.2313G>A (p.Lys771=) rs2133827656
NM_004211.5(SLC6A5):c.2323G>C (p.Asp775His) rs776857479
NM_004211.5(SLC6A5):c.2340T>C (p.Ser780=)
NM_004211.5(SLC6A5):c.2356C>T (p.Leu786=) rs1035286521
NM_004211.5(SLC6A5):c.2367G>A (p.Lys789=)
NM_004211.5(SLC6A5):c.2379G>T (p.Leu793=)
NM_004211.5(SLC6A5):c.246C>T (p.Leu82=) rs1374623528
NM_004211.5(SLC6A5):c.249T>C (p.Ser83=) rs2133768029
NM_004211.5(SLC6A5):c.252C>T (p.Ser84=)
NM_004211.5(SLC6A5):c.261G>A (p.Ala87=)
NM_004211.5(SLC6A5):c.261G>C (p.Ala87=)
NM_004211.5(SLC6A5):c.261G>T (p.Ala87=)
NM_004211.5(SLC6A5):c.264G>A (p.Gln88=)
NM_004211.5(SLC6A5):c.280C>T (p.Leu94=)
NM_004211.5(SLC6A5):c.283C>A (p.Arg95=)
NM_004211.5(SLC6A5):c.3+11G>C
NM_004211.5(SLC6A5):c.3+15T>C
NM_004211.5(SLC6A5):c.3+16T>A
NM_004211.5(SLC6A5):c.3+18T>G
NM_004211.5(SLC6A5):c.3+8T>A
NM_004211.5(SLC6A5):c.3+8_3+11del
NM_004211.5(SLC6A5):c.306C>T (p.Gly102=)
NM_004211.5(SLC6A5):c.318G>C (p.Ser106=)
NM_004211.5(SLC6A5):c.327C>A (p.Pro109=) rs767784671
NM_004211.5(SLC6A5):c.327C>T (p.Pro109=) rs767784671
NM_004211.5(SLC6A5):c.330G>A (p.Gly110=)
NM_004211.5(SLC6A5):c.336C>G (p.Ser112=)
NM_004211.5(SLC6A5):c.351G>A (p.Ala117=)
NM_004211.5(SLC6A5):c.351G>C (p.Ala117=) rs370151412
NM_004211.5(SLC6A5):c.351_352delinsAT (p.Ala117_Leu118=) rs2133768275
NM_004211.5(SLC6A5):c.360T>C (p.Cys120=)
NM_004211.5(SLC6A5):c.373C>T (p.Leu125=) rs1380651088
NM_004211.5(SLC6A5):c.381C>T (p.Gly127=)
NM_004211.5(SLC6A5):c.384G>A (p.Pro128=)
NM_004211.5(SLC6A5):c.387G>A (p.Glu129=)
NM_004211.5(SLC6A5):c.4-12T>C
NM_004211.5(SLC6A5):c.4-13A>C
NM_004211.5(SLC6A5):c.4-15A>G
NM_004211.5(SLC6A5):c.4-8_4-7insCTC
NM_004211.5(SLC6A5):c.421C>T (p.Leu141=)
NM_004211.5(SLC6A5):c.429G>T (p.Arg143=) rs1312832221
NM_004211.5(SLC6A5):c.435T>C (p.Asn145=) rs375679521
NM_004211.5(SLC6A5):c.438C>A (p.Thr146=) rs752552283
NM_004211.5(SLC6A5):c.450C>G (p.Gly150=)
NM_004211.5(SLC6A5):c.474C>G (p.Thr158=)
NM_004211.5(SLC6A5):c.477G>C (p.Val159=) rs1288211274
NM_004211.5(SLC6A5):c.480G>T (p.Val160=)
NM_004211.5(SLC6A5):c.489G>T (p.Thr163=)
NM_004211.5(SLC6A5):c.498C>T (p.Ile166=) rs1264509257
NM_004211.5(SLC6A5):c.501G>A (p.Thr167=)
NM_004211.5(SLC6A5):c.504C>G (p.Ser168=)
NM_004211.5(SLC6A5):c.516C>T (p.Gly172=) rs747444143
NM_004211.5(SLC6A5):c.51G>A (p.Pro17=) rs1326565040
NM_004211.5(SLC6A5):c.528C>A (p.Thr176=)
NM_004211.5(SLC6A5):c.540+13C>T
NM_004211.5(SLC6A5):c.540+14A>C rs2133768675
NM_004211.5(SLC6A5):c.540+18C>T
NM_004211.5(SLC6A5):c.540+20G>A
NM_004211.5(SLC6A5):c.541-18G>A rs927897041
NM_004211.5(SLC6A5):c.541-6C>T rs1247087234
NM_004211.5(SLC6A5):c.541-7C>T rs1852533278
NM_004211.5(SLC6A5):c.541-9C>G rs775616432
NM_004211.5(SLC6A5):c.546C>T (p.Asp182=) rs138199033
NM_004211.5(SLC6A5):c.555G>A (p.Gly185=)
NM_004211.5(SLC6A5):c.573A>T (p.Arg191=)
NM_004211.5(SLC6A5):c.630G>T (p.Gly210=)
NM_004211.5(SLC6A5):c.668A>G (p.Gln223Arg)
NM_004211.5(SLC6A5):c.679+13C>T
NM_004211.5(SLC6A5):c.679+20T>C
NM_004211.5(SLC6A5):c.679+7C>A rs2133771636
NM_004211.5(SLC6A5):c.680-11C>A
NM_004211.5(SLC6A5):c.680-13del
NM_004211.5(SLC6A5):c.680-16C>T
NM_004211.5(SLC6A5):c.680-18C>A
NM_004211.5(SLC6A5):c.680-20C>G
NM_004211.5(SLC6A5):c.680-4C>T rs2133774624
NM_004211.5(SLC6A5):c.691A>G (p.Ile231Val)
NM_004211.5(SLC6A5):c.693C>T (p.Ile231=)
NM_004211.5(SLC6A5):c.699C>T (p.Tyr233=)
NM_004211.5(SLC6A5):c.709C>T (p.Leu237=)
NM_004211.5(SLC6A5):c.711G>A (p.Leu237=)
NM_004211.5(SLC6A5):c.715C>T (p.Leu239=) rs2133774714
NM_004211.5(SLC6A5):c.72C>T (p.Gly24=)
NM_004211.5(SLC6A5):c.739T>C (p.Leu247=) rs892848321
NM_004211.5(SLC6A5):c.753G>T (p.Leu251=) rs754226256
NM_004211.5(SLC6A5):c.756C>T (p.Gly252=)
NM_004211.5(SLC6A5):c.777A>T (p.Pro259=)
NM_004211.5(SLC6A5):c.78G>A (p.Pro26=)
NM_004211.5(SLC6A5):c.805C>T (p.Leu269=)
NM_004211.5(SLC6A5):c.811+14G>A
NM_004211.5(SLC6A5):c.811+17G>A
NM_004211.5(SLC6A5):c.811+8C>T
NM_004211.5(SLC6A5):c.812-18G>A
NM_004211.5(SLC6A5):c.812-20T>C
NM_004211.5(SLC6A5):c.812-20T>G rs757146180
NM_004211.5(SLC6A5):c.812-4G>T rs1852606118
NM_004211.5(SLC6A5):c.81T>C (p.Asp27=)
NM_004211.5(SLC6A5):c.840T>C (p.Ser280=)
NM_004211.5(SLC6A5):c.855A>C (p.Ile285=) rs1191805948
NM_004211.5(SLC6A5):c.867G>A (p.Val289=)
NM_004211.5(SLC6A5):c.876C>T (p.Cys292=)
NM_004211.5(SLC6A5):c.892C>T (p.Leu298=) rs373707467
NM_004211.5(SLC6A5):c.927C>A (p.Gly309=)
NM_004211.5(SLC6A5):c.927C>G (p.Gly309=)
NM_004211.5(SLC6A5):c.942T>A (p.Pro314=)
NM_004211.5(SLC6A5):c.942T>G (p.Pro314=)
NM_004211.5(SLC6A5):c.950C>T (p.Thr317Met) rs150764554
NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu) rs527326906
NM_004211.5(SLC6A5):c.96C>T (p.Pro32=) rs886048107
NM_004211.5(SLC6A5):c.982T>C (p.Leu328=)
NM_004211.5(SLC6A5):c.985+14T>C
NM_004211.5(SLC6A5):c.985+16C>G
NM_004211.5(SLC6A5):c.985+17C>G
NM_004211.5(SLC6A5):c.985+7T>C
NM_004211.5(SLC6A5):c.986-13C>T
NM_004211.5(SLC6A5):c.986-18C>T
NM_004211.5(SLC6A5):c.986-9C>T rs1444559242
NM_004211.5(SLC6A5):c.993T>C (p.Cys331=) rs373877201
NM_004211.5(SLC6A5):c.996T>C (p.Val332=)

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