ClinVar Miner

List of variants reported as likely benign for Developmental and epileptic encephalopathy, 36 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 538
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377 0.00035
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211 0.00014
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344 0.00014
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=) rs865879266 0.00014
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506 0.00013
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528 0.00013
NM_001099922.3(ALG13):c.417T>C (p.Ile139=) rs748326545 0.00012
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643 0.00011
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102 0.00010
NM_001099922.3(ALG13):c.255C>T (p.Ser85=) rs771286138 0.00010
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179 0.00010
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu) rs1404395085 0.00010
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) rs200516126 0.00009
NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser) rs778876158 0.00009
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) rs773666398 0.00007
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216 0.00006
NM_001099922.3(ALG13):c.620G>A (p.Gly207Glu) rs775381422 0.00006
NM_001099922.3(ALG13):c.1087+18A>G rs374773161 0.00005
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=) rs368020541 0.00005
NM_001099922.3(ALG13):c.139G>A (p.Val47Ile) rs766512298 0.00005
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400 0.00005
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=) rs754346057 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936 0.00005
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.246T>G (p.Gly82=) rs1934561313 0.00004
NM_001099922.3(ALG13):c.2808T>A (p.Pro936=) rs1402009098 0.00004
NM_001099922.3(ALG13):c.2811T>A (p.Pro937=) rs1464628002 0.00004
NM_001099922.3(ALG13):c.511A>G (p.Lys171Glu) rs750037026 0.00004
NM_001099922.3(ALG13):c.1209C>T (p.Ser403=) rs773641755 0.00003
NM_001099922.3(ALG13):c.1737A>G (p.Ser579=) rs889996527 0.00003
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917 0.00003
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=) rs768241839 0.00003
NM_001099922.3(ALG13):c.2004C>T (p.His668=) rs1024835814 0.00003
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277 0.00003
NM_001099922.3(ALG13):c.2624G>C (p.Ser875Thr) rs757522953 0.00003
NM_001099922.3(ALG13):c.2973+10A>G rs1027238133 0.00003
NM_001099922.3(ALG13):c.303C>T (p.Asn101=) rs763113044 0.00003
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=) rs369901028 0.00003
NM_001099922.3(ALG13):c.819A>G (p.Gln273=) rs774384951 0.00003
NM_001099922.3(ALG13):c.927T>A (p.Ile309=) rs1939944337 0.00003
NM_001099922.3(ALG13):c.1005+15G>A rs751530957 0.00002
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1377C>T (p.Ala459=) rs368020541 0.00002
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=) rs891310320 0.00002
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His) rs374870130 0.00002
NM_001099922.3(ALG13):c.1977-12C>T rs374618611 0.00002
NM_001099922.3(ALG13):c.2112C>T (p.Arg704=) rs775927215 0.00002
NM_001099922.3(ALG13):c.2248-11C>T rs377064873 0.00002
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg) rs766946325 0.00002
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=) rs1057523456 0.00002
NM_001099922.3(ALG13):c.2863T>C (p.Leu955=) rs1200753439 0.00002
NM_001099922.3(ALG13):c.2973+20T>A rs368694871 0.00002
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg) rs771207661 0.00002
NM_001099922.3(ALG13):c.441A>G (p.Gln147=) rs1391605283 0.00002
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala) rs774646647 0.00002
NM_001099922.3(ALG13):c.54G>A (p.Ala18=) rs1406539581 0.00002
NM_001099922.3(ALG13):c.588T>G (p.Pro196=) rs747214832 0.00002
NM_001099922.3(ALG13):c.696T>C (p.Phe232=) rs766736046 0.00002
NM_001099922.3(ALG13):c.6G>A (p.Lys2=) rs1380956380 0.00002
NM_001099922.3(ALG13):c.804T>C (p.Tyr268=) rs1375106247 0.00002
NM_001099922.3(ALG13):c.885+14T>C rs746055178 0.00002
NM_001099922.3(ALG13):c.886-19A>G rs773121084 0.00002
NM_001099922.3(ALG13):c.889A>G (p.Ser297Gly) rs372176416 0.00002
NM_001099922.3(ALG13):c.933-4A>G rs1389043493 0.00002
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360 0.00001
NM_001099922.3(ALG13):c.1134A>G (p.Glu378=) rs778696912 0.00001
NM_001099922.3(ALG13):c.114C>T (p.Ile38=) rs1206750653 0.00001
NM_001099922.3(ALG13):c.1164T>C (p.Phe388=) rs1463398527 0.00001
NM_001099922.3(ALG13):c.1182G>A (p.Lys394=) rs1602694246 0.00001
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=) rs1423402192 0.00001
NM_001099922.3(ALG13):c.1435+12T>C rs1051547008 0.00001
NM_001099922.3(ALG13):c.1729+8T>C rs762562568 0.00001
NM_001099922.3(ALG13):c.172C>T (p.Leu58=) rs765437651 0.00001
NM_001099922.3(ALG13):c.1730-20C>T rs1942098220 0.00001
NM_001099922.3(ALG13):c.1730-7C>T rs750726885 0.00001
NM_001099922.3(ALG13):c.1733T>C (p.Ile578Thr) rs780580927 0.00001
NM_001099922.3(ALG13):c.1772A>G (p.Lys591Arg) rs369838463 0.00001
NM_001099922.3(ALG13):c.1851C>T (p.His617=) rs1454391584 0.00001
NM_001099922.3(ALG13):c.1869C>T (p.His623=) rs747208594 0.00001
NM_001099922.3(ALG13):c.1896A>T (p.Thr632=) rs1258429433 0.00001
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp) rs760283589 0.00001
NM_001099922.3(ALG13):c.1934A>C (p.Gln645Pro) rs765734812 0.00001
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=) rs758659441 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2055C>T (p.Cys685=) rs1942191104 0.00001
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) rs778640194 0.00001
NM_001099922.3(ALG13):c.2320G>C (p.Gly774Arg) rs1208800822 0.00001
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952 0.00001
NM_001099922.3(ALG13):c.2376T>C (p.Tyr792=) rs776863825 0.00001
NM_001099922.3(ALG13):c.2395C>T (p.Arg799Cys) rs763877039 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.245-12T>G rs773672059 0.00001
NM_001099922.3(ALG13):c.245-20A>C rs747784575 0.00001
NM_001099922.3(ALG13):c.2475G>A (p.Lys825=) rs1298792527 0.00001
NM_001099922.3(ALG13):c.2523C>T (p.Pro841=) rs1229717685 0.00001
NM_001099922.3(ALG13):c.2529+11T>C rs773084617 0.00001
NM_001099922.3(ALG13):c.2529+7C>T rs1307752089 0.00001
NM_001099922.3(ALG13):c.2529+9C>T rs771372378 0.00001
NM_001099922.3(ALG13):c.2605G>A (p.Ala869Thr) rs1202237862 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001099922.3(ALG13):c.2695+15G>C rs1057522064 0.00001
NM_001099922.3(ALG13):c.2703C>T (p.Ala901=) rs1190999050 0.00001
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) rs1057522348 0.00001
NM_001099922.3(ALG13):c.2884C>T (p.Pro962Ser) rs1172385892 0.00001
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=) rs1944100964 0.00001
NM_001099922.3(ALG13):c.2944T>C (p.Leu982=) rs759545615 0.00001
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=) rs758300150 0.00001
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=) rs1556539037 0.00001
NM_001099922.3(ALG13):c.3225G>A (p.Gly1075=) rs771997156 0.00001
NM_001099922.3(ALG13):c.3261G>A (p.Pro1087=) rs775320246 0.00001
NM_001099922.3(ALG13):c.3264T>C (p.Val1088=) rs762647183 0.00001
NM_001099922.3(ALG13):c.3270A>G (p.Pro1090=) rs1399015543 0.00001
NM_001099922.3(ALG13):c.384-8T>C rs1276902484 0.00001
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro) rs1220905347 0.00001
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632 0.00001
NM_001099922.3(ALG13):c.429T>C (p.Pro143=) rs1173829709 0.00001
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062 0.00001
NM_001099922.3(ALG13):c.744G>A (p.Ser248=) rs755327837 0.00001
NM_001099922.3(ALG13):c.886-12A>G rs770400535 0.00001
NM_001099922.3(ALG13):c.886-17A>G rs1057523046 0.00001
NM_001099922.3(ALG13):c.1002C>T (p.Asp334=)
NM_001099922.3(ALG13):c.1005+10T>A
NM_001099922.3(ALG13):c.1005+13G>A
NM_001099922.3(ALG13):c.1005+14T>C
NM_001099922.3(ALG13):c.1006-16G>A
NM_001099922.3(ALG13):c.1006-18C>G
NM_001099922.3(ALG13):c.1006-19T>A
NM_001099922.3(ALG13):c.1019A>G (p.Tyr340Cys)
NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys)
NM_001099922.3(ALG13):c.1087+10G>A
NM_001099922.3(ALG13):c.1087+12C>T
NM_001099922.3(ALG13):c.1087+9A>C
NM_001099922.3(ALG13):c.1088-12T>A
NM_001099922.3(ALG13):c.1088-14C>T
NM_001099922.3(ALG13):c.1088-16A>T
NM_001099922.3(ALG13):c.1098C>T (p.Tyr366=)
NM_001099922.3(ALG13):c.1110T>C (p.Tyr370=)
NM_001099922.3(ALG13):c.1125T>C (p.Val375=)
NM_001099922.3(ALG13):c.1167A>G (p.Arg389=)
NM_001099922.3(ALG13):c.1176T>G (p.Ser392=)
NM_001099922.3(ALG13):c.1183A>C (p.Asn395His) rs1602694279
NM_001099922.3(ALG13):c.1185C>T (p.Asn395=)
NM_001099922.3(ALG13):c.1194T>C (p.Asn398=)
NM_001099922.3(ALG13):c.1221T>C (p.His407=) rs1602694489
NM_001099922.3(ALG13):c.1239A>C (p.Ser413=)
NM_001099922.3(ALG13):c.1245G>A (p.Gln415=)
NM_001099922.3(ALG13):c.1250+14A>G
NM_001099922.3(ALG13):c.1251-18C>T
NM_001099922.3(ALG13):c.1251-4T>C rs1602705501
NM_001099922.3(ALG13):c.1260G>A (p.Glu420=)
NM_001099922.3(ALG13):c.126T>A (p.Gly42=)
NM_001099922.3(ALG13):c.12G>A (p.Val4=) rs781450458
NM_001099922.3(ALG13):c.1326+12T>C
NM_001099922.3(ALG13):c.1326+14T>C
NM_001099922.3(ALG13):c.1326+15A>G
NM_001099922.3(ALG13):c.1326+22del
NM_001099922.3(ALG13):c.1327-14T>C
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
NM_001099922.3(ALG13):c.135G>C (p.Thr45=)
NM_001099922.3(ALG13):c.1365G>A (p.Lys455=)
NM_001099922.3(ALG13):c.1386A>G (p.Pro462=)
NM_001099922.3(ALG13):c.1435+12T>G
NM_001099922.3(ALG13):c.1435+15A>G
NM_001099922.3(ALG13):c.1435+16C>G rs2148153415
NM_001099922.3(ALG13):c.1435+19G>C
NM_001099922.3(ALG13):c.1436-10C>G
NM_001099922.3(ALG13):c.1436-11dup
NM_001099922.3(ALG13):c.1436-15A>G
NM_001099922.3(ALG13):c.1436-19C>A
NM_001099922.3(ALG13):c.1436-5A>G
NM_001099922.3(ALG13):c.1436-8T>C
NM_001099922.3(ALG13):c.1443A>G (p.Gln481=) rs374692571
NM_001099922.3(ALG13):c.1449T>C (p.Ser483=)
NM_001099922.3(ALG13):c.1461G>A (p.Glu487=)
NM_001099922.3(ALG13):c.1473A>G (p.Arg491=) rs1941545350
NM_001099922.3(ALG13):c.1500+12del
NM_001099922.3(ALG13):c.1500+13T>G
NM_001099922.3(ALG13):c.1501-12T>C
NM_001099922.3(ALG13):c.1501-18dup
NM_001099922.3(ALG13):c.1501-20T>C
NM_001099922.3(ALG13):c.1527T>C (p.Tyr509=)
NM_001099922.3(ALG13):c.1530T>C (p.Tyr510=)
NM_001099922.3(ALG13):c.1536T>C (p.Ala512=)
NM_001099922.3(ALG13):c.156T>C (p.Ser52=)
NM_001099922.3(ALG13):c.1590A>G (p.Glu530=)
NM_001099922.3(ALG13):c.1601+14A>G
NM_001099922.3(ALG13):c.1601+17T>G
NM_001099922.3(ALG13):c.1601+18T>G
NM_001099922.3(ALG13):c.1601+9A>G
NM_001099922.3(ALG13):c.1602-15C>A
NM_001099922.3(ALG13):c.1602-15C>T
NM_001099922.3(ALG13):c.1629A>G (p.Lys543=)
NM_001099922.3(ALG13):c.1632A>C (p.Pro544=)
NM_001099922.3(ALG13):c.1632A>G (p.Pro544=)
NM_001099922.3(ALG13):c.1638C>G (p.Thr546=) rs1602730496
NM_001099922.3(ALG13):c.1638C>T (p.Thr546=) rs1602730496
NM_001099922.3(ALG13):c.1659C>T (p.Ala553=)
NM_001099922.3(ALG13):c.165G>A (p.Ser55=)
NM_001099922.3(ALG13):c.1674C>T (p.Pro558=) rs2148191123
NM_001099922.3(ALG13):c.1695C>T (p.Tyr565=)
NM_001099922.3(ALG13):c.1707T>C (p.Pro569=) rs1602730890
NM_001099922.3(ALG13):c.1722G>A (p.Pro574=)
NM_001099922.3(ALG13):c.1729+15G>A
NM_001099922.3(ALG13):c.1729+18T>G
NM_001099922.3(ALG13):c.1730-9G>A rs767872924
NM_001099922.3(ALG13):c.1758G>A (p.Gln586=)
NM_001099922.3(ALG13):c.1779T>A (p.Ile593=)
NM_001099922.3(ALG13):c.1803T>A (p.Thr601=)
NM_001099922.3(ALG13):c.1805T>C (p.Met602Thr)
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1830C>G (p.Leu610=) rs771232900
NM_001099922.3(ALG13):c.1833C>T (p.Leu611=)
NM_001099922.3(ALG13):c.1845G>A (p.Leu615=)
NM_001099922.3(ALG13):c.1874C>T (p.Pro625Leu)
NM_001099922.3(ALG13):c.1879A>G (p.Met627Val)
NM_001099922.3(ALG13):c.1938T>C (p.His646=)
NM_001099922.3(ALG13):c.1941A>G (p.Pro647=) rs1942135193
NM_001099922.3(ALG13):c.1968G>C (p.Gly656=)
NM_001099922.3(ALG13):c.1974C>T (p.Pro658=)
NM_001099922.3(ALG13):c.1976+11G>T
NM_001099922.3(ALG13):c.1976+14A>G
NM_001099922.3(ALG13):c.1976+16A>G
NM_001099922.3(ALG13):c.1976+20G>A rs1556507692
NM_001099922.3(ALG13):c.1976+20G>T
NM_001099922.3(ALG13):c.1976+8A>G
NM_001099922.3(ALG13):c.1977-17T>A
NM_001099922.3(ALG13):c.1977G>A (p.Arg659=) rs1942182184
NM_001099922.3(ALG13):c.1983A>G (p.Ser661=)
NM_001099922.3(ALG13):c.1983A>T (p.Ser661=) rs1241055923
NM_001099922.3(ALG13):c.1989G>A (p.Arg663=)
NM_001099922.3(ALG13):c.1998C>T (p.Asn666=)
NM_001099922.3(ALG13):c.2052G>A (p.Arg684=)
NM_001099922.3(ALG13):c.2090+10G>T
NM_001099922.3(ALG13):c.2090+15G>A
NM_001099922.3(ALG13):c.2090+20_2090+23del
NM_001099922.3(ALG13):c.2090+22_2090+39del
NM_001099922.3(ALG13):c.2090+9T>C
NM_001099922.3(ALG13):c.2091-15T>C rs2148227986
NM_001099922.3(ALG13):c.2091-17T>C
NM_001099922.3(ALG13):c.2091-17T>G
NM_001099922.3(ALG13):c.2091-18T>C
NM_001099922.3(ALG13):c.2091-4T>G
NM_001099922.3(ALG13):c.2091-7A>T rs2148228043
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)
NM_001099922.3(ALG13):c.2124T>C (p.Cys708=)
NM_001099922.3(ALG13):c.2133G>A (p.Lys711=)
NM_001099922.3(ALG13):c.2139C>A (p.Ser713=)
NM_001099922.3(ALG13):c.2142G>A (p.Gln714=) rs1602749741
NM_001099922.3(ALG13):c.2154C>G (p.Thr718=)
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
NM_001099922.3(ALG13):c.2193T>G (p.Thr731=)
NM_001099922.3(ALG13):c.2196T>A (p.Ile732=)
NM_001099922.3(ALG13):c.2199T>A (p.Thr733=)
NM_001099922.3(ALG13):c.21C>T (p.Thr7=) rs1446370125
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) rs1060503802
NM_001099922.3(ALG13):c.2238A>T (p.Pro746=)
NM_001099922.3(ALG13):c.2247+13A>G
NM_001099922.3(ALG13):c.2247+16C>T
NM_001099922.3(ALG13):c.2247+20A>G
NM_001099922.3(ALG13):c.2248-13C>G
NM_001099922.3(ALG13):c.2248-19G>A
NM_001099922.3(ALG13):c.2262C>T (p.Pro754=)
NM_001099922.3(ALG13):c.2265T>A (p.Ser755=)
NM_001099922.3(ALG13):c.2265T>C (p.Ser755=)
NM_001099922.3(ALG13):c.2280T>C (p.Ala760=) rs753759357
NM_001099922.3(ALG13):c.2283T>C (p.Thr761=)
NM_001099922.3(ALG13):c.2286A>G (p.Ser762=)
NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
NM_001099922.3(ALG13):c.2328G>A (p.Gln776=)
NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)
NM_001099922.3(ALG13):c.2368+13_2368+14del rs1942292917
NM_001099922.3(ALG13):c.2368+20A>G
NM_001099922.3(ALG13):c.2369-13C>G
NM_001099922.3(ALG13):c.2369-15G>A
NM_001099922.3(ALG13):c.2369-15_2369-11del
NM_001099922.3(ALG13):c.2369-17T>C
NM_001099922.3(ALG13):c.2369-20G>A
NM_001099922.3(ALG13):c.2373A>G (p.Arg791=) rs1006542504
NM_001099922.3(ALG13):c.2373A>T (p.Arg791=) rs1006542504
NM_001099922.3(ALG13):c.2401+14A>G
NM_001099922.3(ALG13):c.2401+18G>T
NM_001099922.3(ALG13):c.2401+20G>C
NM_001099922.3(ALG13):c.2401+9G>A
NM_001099922.3(ALG13):c.2402-11A>G
NM_001099922.3(ALG13):c.2402-14G>T
NM_001099922.3(ALG13):c.2402-20A>G
NM_001099922.3(ALG13):c.2402-6C>T
NM_001099922.3(ALG13):c.2415A>G (p.Glu805=)
NM_001099922.3(ALG13):c.2427T>C (p.Val809=)
NM_001099922.3(ALG13):c.2436A>G (p.Thr812=)
NM_001099922.3(ALG13):c.244+12T>C
NM_001099922.3(ALG13):c.244+15G>C rs1933641836
NM_001099922.3(ALG13):c.244+20T>G
NM_001099922.3(ALG13):c.2442A>G (p.Ala814=)
NM_001099922.3(ALG13):c.2448A>G (p.Thr816=) rs2148264402
NM_001099922.3(ALG13):c.245-10A>G
NM_001099922.3(ALG13):c.245-12T>A rs773672059
NM_001099922.3(ALG13):c.245-17T>C rs1934554117
NM_001099922.3(ALG13):c.245-7T>C
NM_001099922.3(ALG13):c.245-8A>G
NM_001099922.3(ALG13):c.2457+13T>A
NM_001099922.3(ALG13):c.2457+14A>G
NM_001099922.3(ALG13):c.2457+16T>A
NM_001099922.3(ALG13):c.2457+18G>C
NM_001099922.3(ALG13):c.2458-10T>G
NM_001099922.3(ALG13):c.2458-18T>G
NM_001099922.3(ALG13):c.2458-4A>G
NM_001099922.3(ALG13):c.2460T>C (p.Ser820=)
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala) rs1943107956
NM_001099922.3(ALG13):c.2520C>T (p.Tyr840=) rs1943109899
NM_001099922.3(ALG13):c.2523C>A (p.Pro841=)
NM_001099922.3(ALG13):c.2523C>G (p.Pro841=) rs1229717685
NM_001099922.3(ALG13):c.2529+12A>G
NM_001099922.3(ALG13):c.2529+12A>T
NM_001099922.3(ALG13):c.2530-11C>T
NM_001099922.3(ALG13):c.2530-15C>T
NM_001099922.3(ALG13):c.2530-16T>C
NM_001099922.3(ALG13):c.2531T>C (p.Met844Thr) rs2148330955
NM_001099922.3(ALG13):c.2547A>T (p.Ala849=)
NM_001099922.3(ALG13):c.2550A>C (p.Ala850=)
NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)
NM_001099922.3(ALG13):c.261G>A (p.Leu87=)
NM_001099922.3(ALG13):c.2670A>G (p.Val890=)
NM_001099922.3(ALG13):c.268C>T (p.Leu90=)
NM_001099922.3(ALG13):c.2695+10dup
NM_001099922.3(ALG13):c.2695+15G>A
NM_001099922.3(ALG13):c.2695+16A>C
NM_001099922.3(ALG13):c.2695+9T>C
NM_001099922.3(ALG13):c.2696-19T>C rs2148402568
NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)
NM_001099922.3(ALG13):c.2745T>G (p.Gly915=)
NM_001099922.3(ALG13):c.2748C>G (p.Ala916=)
NM_001099922.3(ALG13):c.2753T>C (p.Leu918Pro)
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[12] (p.Pro943_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2757A>C (p.Pro919=) rs2148403524
NM_001099922.3(ALG13):c.2760A>C (p.Pro920=)
NM_001099922.3(ALG13):c.2760A>G (p.Pro920=) rs2148403613
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2766A>C (p.Pro922=) rs1944064025
NM_001099922.3(ALG13):c.2766A>G (p.Pro922=)
NM_001099922.3(ALG13):c.2769A>C (p.Pro923=) rs1602888164
NM_001099922.3(ALG13):c.2772A>C (p.Pro924=) rs1204623641
NM_001099922.3(ALG13):c.2772A>G (p.Pro924=)
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=) rs1285221362
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=) rs1218547242
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=) rs147870070
NM_001099922.3(ALG13):c.2784A>C (p.Pro928=) rs1602888630
NM_001099922.3(ALG13):c.2787A>C (p.Pro929=) rs772431643
NM_001099922.3(ALG13):c.2790A>C (p.Pro930=) rs1602888750
NM_001099922.3(ALG13):c.2790A>G (p.Pro930=)
NM_001099922.3(ALG13):c.2790A>T (p.Pro930=)
NM_001099922.3(ALG13):c.2790_2801del (p.Pro942_Pro945del) rs1944071710
NM_001099922.3(ALG13):c.2792_2793insTCC (p.Pro945_Ala946insPro)
NM_001099922.3(ALG13):c.2793A>C (p.Pro931=) rs1325128061
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
NM_001099922.3(ALG13):c.2793_2801del (p.Pro943_Pro945del) rs1944073301
NM_001099922.3(ALG13):c.2793_2801dup (p.Pro945_Ala946insProProPro)
NM_001099922.3(ALG13):c.2795_2796insTCC (p.Pro945dup) rs1944074283
NM_001099922.3(ALG13):c.2796A>C (p.Pro932=)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del) rs1468160803
NM_001099922.3(ALG13):c.2796_2804del (p.Pro943_Pro945del) rs2148404715
NM_001099922.3(ALG13):c.2796_2807del (p.Pro942_Pro945del)
NM_001099922.3(ALG13):c.2796_2810del (p.Pro941_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[15] (p.Pro944_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[16] (p.Pro943_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCTCCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2799T>C (p.Pro933=)
NM_001099922.3(ALG13):c.27G>A (p.Gly9=)
NM_001099922.3(ALG13):c.2802T>C (p.Pro934=)
NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)
NM_001099922.3(ALG13):c.2820T>A (p.Pro940=)
NM_001099922.3(ALG13):c.2820T>G (p.Pro940=) rs765365972
NM_001099922.3(ALG13):c.2821_2841del (p.Pro941_Leu947del)
NM_001099922.3(ALG13):c.2835T>C (p.Pro945=)
NM_001099922.3(ALG13):c.2866C>G (p.Gln956Glu)
NM_001099922.3(ALG13):c.2874A>G (p.Pro958=)
NM_001099922.3(ALG13):c.2877A>G (p.Pro959=)
NM_001099922.3(ALG13):c.2883A>G (p.Leu961=) rs370500067
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=) rs1556523067
NM_001099922.3(ALG13):c.2910A>G (p.Pro970=)
NM_001099922.3(ALG13):c.2932+16G>A
NM_001099922.3(ALG13):c.2932+16_2932+30del
NM_001099922.3(ALG13):c.2932+19T>G
NM_001099922.3(ALG13):c.2932+22_2932+41del
NM_001099922.3(ALG13):c.2932+6_2932+7insC
NM_001099922.3(ALG13):c.2932+8G>T
NM_001099922.3(ALG13):c.2932+9_2932+10insCGCTTTTT
NM_001099922.3(ALG13):c.2933-15G>C
NM_001099922.3(ALG13):c.294G>T (p.Val98=)
NM_001099922.3(ALG13):c.2967A>G (p.Gly989=) rs1944879675
NM_001099922.3(ALG13):c.2973+9C>T
NM_001099922.3(ALG13):c.2974-10C>T rs1426077854
NM_001099922.3(ALG13):c.2974-17G>A
NM_001099922.3(ALG13):c.2974-17G>T
NM_001099922.3(ALG13):c.2974-20G>T
NM_001099922.3(ALG13):c.2974-4C>T
NM_001099922.3(ALG13):c.2991C>T (p.Tyr997=)
NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)
NM_001099922.3(ALG13):c.3015A>T (p.Pro1005=)
NM_001099922.3(ALG13):c.3048T>C (p.Tyr1016=)
NM_001099922.3(ALG13):c.3054C>G (p.Val1018=)
NM_001099922.3(ALG13):c.3066A>G (p.Pro1022=)
NM_001099922.3(ALG13):c.3070C>T (p.Leu1024=)
NM_001099922.3(ALG13):c.3072G>C (p.Leu1024=)
NM_001099922.3(ALG13):c.30C>T (p.Thr10=)
NM_001099922.3(ALG13):c.3117A>G (p.Glu1039=) rs2148514625
NM_001099922.3(ALG13):c.3120T>C (p.Asp1040=) rs2148514681
NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)
NM_001099922.3(ALG13):c.3148+7G>A
NM_001099922.3(ALG13):c.3148+7G>C
NM_001099922.3(ALG13):c.3149-11C>T
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.3149-14A>G
NM_001099922.3(ALG13):c.3149-16A>G
NM_001099922.3(ALG13):c.3149-18A>G rs1340748910
NM_001099922.3(ALG13):c.3149-19T>C
NM_001099922.3(ALG13):c.3149-9T>C
NM_001099922.3(ALG13):c.3156T>C (p.Phe1052=)
NM_001099922.3(ALG13):c.3195C>G (p.Val1065=)
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3267G>A (p.Val1089=)
NM_001099922.3(ALG13):c.3279C>A (p.Ser1093=)
NM_001099922.3(ALG13):c.3291C>G (p.Pro1097=) rs1329885117
NM_001099922.3(ALG13):c.3321T>C (p.Gly1107=) rs2148531912
NM_001099922.3(ALG13):c.3324T>G (p.Ser1108=)
NM_001099922.3(ALG13):c.3327T>G (p.Ser1109=) rs2148532070
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3330A>T (p.Gln1110His)
NM_001099922.3(ALG13):c.334C>T (p.Leu112=)
NM_001099922.3(ALG13):c.3372T>C (p.Ala1124=)
NM_001099922.3(ALG13):c.33C>G (p.Thr11=)
NM_001099922.3(ALG13):c.348A>G (p.Leu116=)
NM_001099922.3(ALG13):c.354A>G (p.Lys118=) rs1569510723
NM_001099922.3(ALG13):c.362A>G (p.His121Arg)
NM_001099922.3(ALG13):c.36C>T (p.Ser12=)
NM_001099922.3(ALG13):c.372T>C (p.Tyr124=)
NM_001099922.3(ALG13):c.383+13C>A
NM_001099922.3(ALG13):c.383+14_383+15del
NM_001099922.3(ALG13):c.383+16A>G rs2147695492
NM_001099922.3(ALG13):c.383+16ATT[2]
NM_001099922.3(ALG13):c.383+17T>C
NM_001099922.3(ALG13):c.384-10_384-8del
NM_001099922.3(ALG13):c.384-12T>G
NM_001099922.3(ALG13):c.384-15C>T
NM_001099922.3(ALG13):c.384-17T>C
NM_001099922.3(ALG13):c.399T>C (p.Pro133=)
NM_001099922.3(ALG13):c.420T>C (p.Ala140=)
NM_001099922.3(ALG13):c.432G>A (p.Gly144=)
NM_001099922.3(ALG13):c.432G>C (p.Gly144=)
NM_001099922.3(ALG13):c.453G>A (p.Ala151=)
NM_001099922.3(ALG13):c.498C>T (p.Ser166=)
NM_001099922.3(ALG13):c.501A>C (p.Gly167=)
NM_001099922.3(ALG13):c.516A>G (p.Gln172=)
NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)
NM_001099922.3(ALG13):c.534C>T (p.Thr178=) rs2147997341
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg) rs1939121243
NM_001099922.3(ALG13):c.558T>C (p.Phe186=)
NM_001099922.3(ALG13):c.594C>T (p.Thr198=) rs2147998048
NM_001099922.3(ALG13):c.597C>G (p.Pro199=)
NM_001099922.3(ALG13):c.60G>A (p.Val20=) rs2147594318
NM_001099922.3(ALG13):c.646T>C (p.Ser216Pro) rs2147998626
NM_001099922.3(ALG13):c.66G>A (p.Ala22=)
NM_001099922.3(ALG13):c.681C>G (p.Gly227=) rs1939140318
NM_001099922.3(ALG13):c.684C>T (p.Ser228=)
NM_001099922.3(ALG13):c.69C>G (p.Pro23=)
NM_001099922.3(ALG13):c.729C>T (p.Leu243=)
NM_001099922.3(ALG13):c.750+14A>G
NM_001099922.3(ALG13):c.750+16_750+17del
NM_001099922.3(ALG13):c.750+17T>C
NM_001099922.3(ALG13):c.751-11C>T rs1569515614
NM_001099922.3(ALG13):c.751-19G>T rs2148005083
NM_001099922.3(ALG13):c.751-6T>C rs2148005349
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.756T>C (p.Phe252=) rs915629293
NM_001099922.3(ALG13):c.765G>A (p.Gln255=)
NM_001099922.3(ALG13):c.774T>C (p.His258=)
NM_001099922.3(ALG13):c.792T>C (p.Ala264=)
NM_001099922.3(ALG13):c.792T>G (p.Ala264=)
NM_001099922.3(ALG13):c.795T>C (p.Cys265=) rs2148005716
NM_001099922.3(ALG13):c.81+12A>G
NM_001099922.3(ALG13):c.81+13G>A
NM_001099922.3(ALG13):c.81+16G>A
NM_001099922.3(ALG13):c.81+18G>A
NM_001099922.3(ALG13):c.81+20A>C
NM_001099922.3(ALG13):c.81+7G>A
NM_001099922.3(ALG13):c.81+7G>T
NM_001099922.3(ALG13):c.81+9G>A
NM_001099922.3(ALG13):c.81+9G>T rs2147595118
NM_001099922.3(ALG13):c.834+14A>T
NM_001099922.3(ALG13):c.834+20del
NM_001099922.3(ALG13):c.834+8G>C
NM_001099922.3(ALG13):c.835-15G>C
NM_001099922.3(ALG13):c.837T>C (p.Tyr279=)
NM_001099922.3(ALG13):c.870G>A (p.Arg290=)
NM_001099922.3(ALG13):c.871T>C (p.Leu291=)
NM_001099922.3(ALG13):c.885+13A>G
NM_001099922.3(ALG13):c.885+16G>A
NM_001099922.3(ALG13):c.886-13T>C rs2148043429
NM_001099922.3(ALG13):c.886-15A>G rs2148043391
NM_001099922.3(ALG13):c.886-16C>T rs780688383
NM_001099922.3(ALG13):c.886-6G>A
NM_001099922.3(ALG13):c.886-7T>C rs1556488604
NM_001099922.3(ALG13):c.886-8A>T
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.894T>C (p.Ala298=)
NM_001099922.3(ALG13):c.918T>G (p.Leu306=)
NM_001099922.3(ALG13):c.932+13C>T
NM_001099922.3(ALG13):c.932+14T>C
NM_001099922.3(ALG13):c.932+16T>C
NM_001099922.3(ALG13):c.932+8A>G rs2148044353
NM_001099922.3(ALG13):c.933-20C>T
NM_001099922.3(ALG13):c.933-7C>T rs2148052573
NM_001099922.3(ALG13):c.933-9C>T
NM_001099922.3(ALG13):c.984A>G (p.Thr328=)
NM_001099922.3(ALG13):c.999A>G (p.Glu333=)

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