ClinVar Miner

List of variants reported as uncertain significance for lysosomal glycogen storage disease

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1193
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_002294.3(LAMP2):c.*586A>G rs41312757 0.00248
NM_000152.5(GAA):c.*521A>G rs142506588 0.00241
NM_000152.5(GAA):c.-312C>T rs574326920 0.00161
NM_000152.5(GAA):c.-116C>T rs190152638 0.00153
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_002294.3(LAMP2):c.*4963del rs754879365 0.00097
NM_000152.5(GAA):c.*443G>A rs147801821 0.00093
NM_002294.3(LAMP2):c.*853G>A rs763861761 0.00088
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00076
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00067
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_002294.3(LAMP2):c.*4757A>G rs767652057 0.00040
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000152.5(GAA):c.*64G>T rs187532717 0.00037
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000152.5(GAA):c.*98A>T rs886053548 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480 0.00024
NM_000152.5(GAA):c.1552-14C>T rs199715011 0.00024
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791 0.00024
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429 0.00021
NM_013995.2(LAMP2):c.-136C>G rs944875305 0.00020
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000152.5(GAA):c.*310C>T rs550314730 0.00018
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_002294.3(LAMP2):c.*1672C>T rs1024440041 0.00014
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000152.5(GAA):c.546+3G>A rs371405931 0.00013
NM_002294.3(LAMP2):c.*2476C>T rs776684734 0.00013
NM_002294.3(LAMP2):c.*4763A>T rs761928368 0.00013
NM_002294.3(LAMP2):c.1093+2532G>A rs730880488 0.00013
NM_000152.5(GAA):c.*2C>T rs761162129 0.00012
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874 0.00012
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273 0.00011
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987 0.00011
NM_002294.3(LAMP2):c.*975A>G rs1179268991 0.00011
NM_000152.5(GAA):c.-62A>C rs367731841 0.00010
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000152.5(GAA):c.610G>A (p.Ala204Thr) rs780799275 0.00010
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_002294.3(LAMP2):c.1093+2544A>G rs777128122 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000152.5(GAA):c.2041-4G>T rs775757700 0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00007
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002294.3(LAMP2):c.*4004C>T rs1001857275 0.00007
NM_002294.3(LAMP2):c.*4006G>T rs905784906 0.00007
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro) rs371174243 0.00007
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487 0.00006
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.*721A>C rs887326511 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1437+19G>A rs746904197 0.00005
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00005
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000152.5(GAA):c.2481+15C>T rs771155956 0.00005
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374 0.00005
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn) rs372604133 0.00005
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847 0.00005
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_000152.5(GAA):c.*264G>A rs1219851042 0.00004
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944 0.00004
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520 0.00004
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077 0.00004
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034 0.00004
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.196C>T (p.Arg66Trp) rs371971763 0.00004
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00004
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016 0.00004
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00004
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=) rs368741815 0.00004
NM_002294.3(LAMP2):c.*4664A>G rs894257602 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002294.3(LAMP2):c.928+6C>T rs769837038 0.00004
NM_000152.5(GAA):c.-32-5C>T rs775682001 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988 0.00003
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys) rs189402693 0.00003
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613 0.00003
NM_000152.5(GAA):c.1661C>T (p.Ala554Val) rs772260861 0.00003
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180 0.00003
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198 0.00003
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.292A>T (p.Ile98Phe) rs745963730 0.00003
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405 0.00003
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys) rs200509552 0.00003
NM_000152.5(GAA):c.955+14C>A rs756921041 0.00003
NM_002294.3(LAMP2):c.*2147T>C rs1314194515 0.00003
NM_002294.3(LAMP2):c.*4858A>G rs943561186 0.00003
NM_002294.3(LAMP2):c.1126C>A (p.Leu376Ile) rs1006753991 0.00003
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu) rs376215728 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.398-3T>C rs1045629648 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn) rs1341268966 0.00003
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199 0.00002
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys) rs749186162 0.00002
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889 0.00002
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545 0.00002
NM_000152.5(GAA):c.1437+6G>A rs754249803 0.00002
NM_000152.5(GAA):c.1544T>C (p.Met515Thr) rs1338245575 0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1881C>T (p.Ser627=) rs779328815 0.00002
NM_000152.5(GAA):c.1936G>A (p.Val646Ile) rs770029932 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser) rs1365945556 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00002
NM_000152.5(GAA):c.280C>A (p.Pro94Thr) rs749496973 0.00002
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294 0.00002
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537 0.00002
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.840C>G (p.Asn280Lys) rs747820772 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511 0.00002
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000152.5(GAA):c.899C>T (p.Ala300Val) rs1032949450 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000152.5(GAA):c.979G>A (p.Ala327Thr) rs756562462 0.00002
NM_002294.3(LAMP2):c.*3263T>C rs1164559557 0.00002
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg) rs781134467 0.00002
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala) rs2058522449 0.00002
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=) rs397516736 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val) rs755790073 0.00002
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile) rs377652722 0.00002
NM_002294.3(LAMP2):c.64+6T>C rs1921660826 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala) rs991396612 0.00002
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His) rs142135083 0.00002
NM_000152.5(GAA):c.*163G>T rs761668638 0.00001
NM_000152.5(GAA):c.*66G>A rs908570853 0.00001
NM_000152.5(GAA):c.-236C>T rs886053541 0.00001
NM_000152.5(GAA):c.-32-3C>T rs1055945806 0.00001
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr) rs1334402365 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1059G>C (p.Gln353His) rs376146090 0.00001
NM_000152.5(GAA):c.1075+4G>A rs754290055 0.00001
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.1171A>G (p.Met391Val) rs778634337 0.00001
NM_000152.5(GAA):c.1184A>T (p.His395Leu) rs775121651 0.00001
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231 0.00001
NM_000152.5(GAA):c.1195-8G>A rs1194778188 0.00001
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868 0.00001
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496 0.00001
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp) rs777372252 0.00001
NM_000152.5(GAA):c.1319T>C (p.Met440Thr) rs768847441 0.00001
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976 0.00001
NM_000152.5(GAA):c.1438G>A (p.Val480Ile) rs769574574 0.00001
NM_000152.5(GAA):c.1448G>T (p.Gly483Val) rs2039213206 0.00001
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala) rs1418481698 0.00001
NM_000152.5(GAA):c.151G>A (p.Glu51Lys) rs2039030436 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro) rs1283351706 0.00001
NM_000152.5(GAA):c.1669A>G (p.Ile557Val) rs747150965 0.00001
NM_000152.5(GAA):c.1755-3C>T rs748327755 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00001
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg) rs1387345310 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro) rs2039267331 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) rs746961289 0.00001
NM_000152.5(GAA):c.1889-7C>G rs765713320 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1989G>T (p.Gln663His) rs1189531783 0.00001
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117 0.00001
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) rs752507985 0.00001
NM_000152.5(GAA):c.2012T>C (p.Met671Thr) rs398123170 0.00001
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg) rs779338215 0.00001
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) rs755618776 0.00001
NM_000152.5(GAA):c.214C>A (p.Pro72Thr) rs923068950 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2218G>T (p.Val740Leu) rs752122499 0.00001
NM_000152.5(GAA):c.221G>A (p.Arg74His) rs764797280 0.00001
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214 0.00001
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys) rs201980859 0.00001
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117 0.00001
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304 0.00001
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156 0.00001
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr) rs1464282302 0.00001
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978 0.00001
NM_000152.5(GAA):c.260A>G (p.Asn87Ser) rs117530672 0.00001
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772 0.00001
NM_000152.5(GAA):c.2651C>T (p.Thr884Met) rs759144318 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848 0.00001
NM_000152.5(GAA):c.2735C>T (p.Ala912Val) rs778874712 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.2803C>T (p.Leu935=) rs746826091 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189 0.00001
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350 0.00001
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809 0.00001
NM_000152.5(GAA):c.298C>A (p.Gln100Lys) rs780027584 0.00001
NM_000152.5(GAA):c.314C>T (p.Ala105Val) rs761409404 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.328T>C (p.Tyr110His) rs761311330 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806 0.00001
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.435A>T (p.Glu145Asp) rs765586839 0.00001
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.472A>G (p.Thr158Ala) rs1598570556 0.00001
NM_000152.5(GAA):c.488A>T (p.Asp163Val) rs755903462 0.00001
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831 0.00001
NM_000152.5(GAA):c.503G>T (p.Arg168Leu) rs376685205 0.00001
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.530A>C (p.Asn177Thr) rs936395356 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.539A>G (p.His180Arg) rs773474041 0.00001
NM_000152.5(GAA):c.549C>G (p.Ile183Met) rs778132082 0.00001
NM_000152.5(GAA):c.560C>G (p.Ala187Gly) rs749876645 0.00001
NM_000152.5(GAA):c.574G>A (p.Glu192Lys) rs1407372901 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274 0.00001
NM_000152.5(GAA):c.608G>A (p.Arg203Gln) rs754446365 0.00001
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379 0.00001
NM_000152.5(GAA):c.630C>T (p.Ser210=) rs775568949 0.00001
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790 0.00001
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890 0.00001
NM_000152.5(GAA):c.706G>T (p.Val236Leu) rs777964427 0.00001
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763 0.00001
NM_000152.5(GAA):c.723T>G (p.Phe241Leu) rs1160112655 0.00001
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298 0.00001
NM_000152.5(GAA):c.74C>T (p.Ala25Val) rs768867363 0.00001
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671 0.00001
NM_000152.5(GAA):c.764A>G (p.Gln255Arg) rs1405975877 0.00001
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) rs779785396 0.00001
NM_000152.5(GAA):c.804G>A (p.Met268Ile) rs1185610552 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720 0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304 0.00001
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868 0.00001
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384 0.00001
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219 0.00001
NM_000152.5(GAA):c.955+5G>C rs759508507 0.00001
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289 0.00001
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587 0.00001
NM_000152.5(GAA):c.995C>T (p.Ser332Leu) rs757608620 0.00001
NM_002294.3(LAMP2):c.*238G>A rs2058520973 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly) rs1319752625 0.00001
NM_002294.3(LAMP2):c.1006A>T (p.Thr336Ser) rs1343337245 0.00001
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser) rs775416221 0.00001
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met) rs886038907 0.00001
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu) rs1375151119 0.00001
NM_002294.3(LAMP2):c.178A>G (p.Thr60Ala) rs1207512652 0.00001
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771 0.00001
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr) rs776875696 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) rs778193991 0.00001
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu) rs878854484 0.00001
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) rs371149731 0.00001
NM_002294.3(LAMP2):c.373A>G (p.Thr125Ala) rs748494547 0.00001
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu) rs1921041200 0.00001
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) rs104894857 0.00001
NM_002294.3(LAMP2):c.556+13T>A rs1380200946 0.00001
NM_002294.3(LAMP2):c.556+14A>G rs1180149958 0.00001
NM_002294.3(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485 0.00001
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile) rs767918596 0.00001
NM_002294.3(LAMP2):c.605A>C (p.His202Pro) rs730880475 0.00001
NM_002294.3(LAMP2):c.611C>T (p.Thr204Ile) rs1459886510 0.00001
NM_002294.3(LAMP2):c.697C>G (p.Leu233Val) rs772577020 0.00001
NM_002294.3(LAMP2):c.709A>G (p.Met237Val) rs746678211 0.00001
NM_002294.3(LAMP2):c.773C>T (p.Thr258Ile) rs111703410 0.00001
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala) rs1131691290 0.00001
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn) rs1271107737 0.00001
NM_002294.3(LAMP2):c.980G>T (p.Ser327Ile) rs960241982 0.00001
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.10:g.(?_78090747)_(78110154_?)dup
NC_000017.10:g.(?_78090757)_(78093140_?)dup
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_119565178)_(119565337_?)dup
NC_000023.10:g.(?_119565178)_(119575769_?)dup
NC_000023.10:g.(?_119565178)_(119581900_?)dup
NC_000023.10:g.(?_119575565)_(119660731_?)dup
NC_000023.10:g.(?_119602955)_(119603030_?)dup
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NM_000152.5(GAA):c.*128T>C rs886053549
NM_000152.5(GAA):c.*219G>A rs1216535924
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.*82C>T rs745999686
NM_000152.5(GAA):c.-32-13T>C rs386834236
NM_000152.5(GAA):c.-32-3del
NM_000152.5(GAA):c.-325C>T rs1402918119
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser) rs2039144354
NM_000152.5(GAA):c.1049T>C (p.Val350Ala) rs2039144934
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) rs754449703
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) rs754449703
NM_000152.5(GAA):c.1075+5G>A
NM_000152.5(GAA):c.1076-10T>A
NM_000152.5(GAA):c.1076-11T>C
NM_000152.5(GAA):c.1076-15G>C rs370414054
NM_000152.5(GAA):c.1089G>A (p.Met363Ile)
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
NM_000152.5(GAA):c.1096T>C (p.Tyr366His)
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser) rs2143854757
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg) rs2039150286
NM_000152.5(GAA):c.1128G>C (p.Trp376Cys)
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys) rs752002666
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe) rs377233099
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr) rs1193750279
NM_000152.5(GAA):c.1158G>T (p.Gln386His) rs1400466814
NM_000152.5(GAA):c.115C>A (p.Pro39Thr) rs759236536
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
NM_000152.5(GAA):c.1173G>A (p.Met391Ile) rs2143855905
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr) rs190889375
NM_000152.5(GAA):c.1184A>G (p.His395Arg) rs775121651
NM_000152.5(GAA):c.118C>G (p.Arg40Gly) rs767409395
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.1194+3G>T rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro) rs2039157992
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup) rs2143857460
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) rs886042630
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
NM_000152.5(GAA):c.1250A>G (p.Asn417Ser)
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg) rs2039159106
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly) rs1397577545
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr) rs1283810246
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr) rs2143857881
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
NM_000152.5(GAA):c.1317G>A (p.Met439Ile) rs991245388
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1318A>G (p.Met440Val)
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1326+6T>C rs1199225255
NM_000152.5(GAA):c.1326G>A (p.Val442=)
NM_000152.5(GAA):c.1327-7T>G rs774490566
NM_000152.5(GAA):c.1336A>G (p.Ile446Val) rs775612060
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.133T>G (p.Ser45Ala) rs1322709296
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.134C>T (p.Ser45Phe) rs1179395024
NM_000152.5(GAA):c.1351C>A (p.Pro451Thr)
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu) rs2039191662
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu) rs2039191855
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr) rs535644999
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp) rs1277491722
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp) rs2039193001
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup) rs2039193694
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu) rs886043148
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys) rs886043068
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro) rs2039195201
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1438-10C>G rs1029231930
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro) rs1337100943
NM_000152.5(GAA):c.1453A>G (p.Thr485Ala)
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile) rs2143872073
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr) rs1283045273
NM_000152.5(GAA):c.1457C>T (p.Ala486Val) rs2039213698
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu) rs2143872278
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly) rs2143872652
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu) rs1464913441
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser) rs777571608
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
NM_000152.5(GAA):c.1551+4A>C
NM_000152.5(GAA):c.1551+5G>A rs2039217485
NM_000152.5(GAA):c.1551+6T>C
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-3C>T rs375470378
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn) rs2039221468
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser) rs1555600852
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1567T>C (p.Ser523Pro)
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys) rs2039222579
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys) rs1417304813
NM_000152.5(GAA):c.1576A>G (p.Ile526Val) rs2039222806
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys) rs773576381
NM_000152.5(GAA):c.159C>A (p.His53Gln)
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys) rs1351247900
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp) rs2039224225
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys) rs2039224372
NM_000152.5(GAA):c.1609G>A (p.Glu537Lys)
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
NM_000152.5(GAA):c.1616A>G (p.Glu539Gly)
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser) rs2039224662
NM_000152.5(GAA):c.161C>T (p.Pro54Leu) rs768898668
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys) rs1160583761
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1637-10_1637-9delinsGA rs2143882002
NM_000152.5(GAA):c.1637-12_1637-9del
NM_000152.5(GAA):c.1638G>A (p.Gly546=) rs1260256483
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) rs2039246325
NM_000152.5(GAA):c.1649G>T (p.Gly550Val) rs2039246464
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.1664C>T (p.Ala555Val)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.166C>A (p.His56Asn)
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe) rs576056187
NM_000152.5(GAA):c.167A>T (p.His56Leu) rs113740017
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro) rs543222774
NM_000152.5(GAA):c.16C>T (p.Pro6Ser) rs1424116613
NM_000152.5(GAA):c.1704C>G (p.His568Gln) rs776882059
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
NM_000152.5(GAA):c.1715A>C (p.His572Pro) rs1424756308
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys) rs1175728529
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe)
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.1734C>T (p.Thr578=) rs149384771
NM_000152.5(GAA):c.1739C>T (p.Ala580Val) rs909561836
NM_000152.5(GAA):c.1741A>G (p.Ile581Val) rs559258217
NM_000152.5(GAA):c.1743C>G (p.Ile581Met) rs527970795
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr) rs369098202
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1762G>A (p.Val588Met) rs370138790
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1794C>G (p.Ile598Met) rs2039262568
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
NM_000152.5(GAA):c.1814G>T (p.Gly605Val)
NM_000152.5(GAA):c.1817A>C (p.His606Pro) rs1311698018
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe) rs2039264297
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1834C>A (p.His612Asn) rs2039264895
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu) rs2143889579
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe) rs764377962
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser) rs757445420
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro) rs1235035841
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) rs745911962
NM_000152.5(GAA):c.1885C>A (p.Pro629Thr)
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
NM_000152.5(GAA):c.1888+5G>C
NM_000152.5(GAA):c.1888+6_1888+14del rs2039268703
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro) rs2039274878
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
NM_000152.5(GAA):c.1926C>A (p.Val642=) rs1346499760
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp) rs939350425
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) rs1269689890
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly) rs2039278476
NM_000152.5(GAA):c.1975G>C (p.Val659Leu) rs2143892513
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile) rs2039278795
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu) rs2039279293
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr) rs1598585837
NM_000152.5(GAA):c.202G>T (p.Ala68Ser)
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly) rs1567835990
NM_000152.5(GAA):c.2040+19_2040+20inv
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser) rs2039286160
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys) rs2039287681
NM_000152.5(GAA):c.2080G>T (p.Ala694Ser)
NM_000152.5(GAA):c.2084T>C (p.Met695Thr) rs2143895805
NM_000152.5(GAA):c.208G>A (p.Ala70Thr)
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile) rs2039288481
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2112A>C (p.Ala704=) rs1449566083
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu) rs139009731
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>G (p.His708Asp) rs149916476
NM_000152.5(GAA):c.2124C>G (p.His708Gln) rs751187069
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr) rs1393059819
NM_000152.5(GAA):c.217G>T (p.Gly73Cys) rs760644219
NM_000152.5(GAA):c.2189+3G>C rs2143897458
NM_000152.5(GAA):c.2189+5_2189+8del rs2039293139
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr) rs1377188867
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2234T>G (p.Leu745Arg)
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp) rs778981088
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys) rs1057516363
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
NM_000152.5(GAA):c.2270A>C (p.Gln757Pro)
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg) rs768165130
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn) rs2143919634
NM_000152.5(GAA):c.2294G>T (p.Gly765Val) rs1292367136
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881
NM_000152.5(GAA):c.2302C>T (p.Pro768Ser)
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2307G>A (p.Leu769=) rs372800172
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.230_232dup (p.Ala77_Val78insAla)
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+4A>C rs2039371081
NM_000152.5(GAA):c.2331+6T>G
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln)
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
NM_000152.5(GAA):c.2345C>T (p.Ala782Val) rs994916972
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe) rs762310752
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
NM_000152.5(GAA):c.235C>T (p.Pro79Ser) rs756342288
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) rs2039384789
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln) rs773629231
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro) rs200505871
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.238A>G (p.Thr80Ala)
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2393T>C (p.Ile798Thr)
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg) rs2143925115
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser) rs774470696
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
NM_000152.5(GAA):c.2435A>T (p.Asp812Val)
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr) rs1365945556
NM_000152.5(GAA):c.244T>C (p.Cys82Arg) rs1252748852
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2467A>C (p.Ile823Leu)
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu) rs886042703
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg) rs1555602967
NM_000152.5(GAA):c.2481+4C>G
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg) rs778187006
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala) rs930247743
NM_000152.5(GAA):c.2522T>C (p.Met841Thr) rs758016479
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) rs1555603087
NM_000152.5(GAA):c.2525C>T (p.Ala842Val) rs2143929732
NM_000152.5(GAA):c.2527C>G (p.Leu843Val) rs2143929760
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro) rs775524898
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) rs1555603096
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu) rs764943318
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly) rs2039404008
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys) rs1039438307
NM_000152.5(GAA):c.257C>A (p.Pro86His)
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) rs951742543
NM_000152.5(GAA):c.259A>C (p.Asn87His)
NM_000152.5(GAA):c.2608C>G (p.Arg870Gly)
NM_000152.5(GAA):c.261C>G (p.Asn87Lys) rs1052555748
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
NM_000152.5(GAA):c.2646+3G>A
NM_000152.5(GAA):c.2646+4A>C
NM_000152.5(GAA):c.2646+4A>G
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
NM_000152.5(GAA):c.268T>A (p.Phe90Ile) rs755402236
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
NM_000152.5(GAA):c.26C>T (p.Ser9Phe) rs1598568879
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr) rs1800299
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys) rs2039415739
NM_000152.5(GAA):c.2723G>T (p.Gly908Val) rs2143933949
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.5(GAA):c.2735C>G (p.Ala912Gly)
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2745G>C (p.Gln915His) rs2143934282
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2790C>T (p.Pro930=) rs2039418269
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn) rs756199247
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2799+4A>T
NM_000152.5(GAA):c.2799+5G>A
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.2800-1G>A
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2811C>G (p.Ile937Met) rs2039429760
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2829G>A (p.Met943Ile) rs2039430526
NM_000152.5(GAA):c.2845G>C (p.Val949Leu)
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.289G>A (p.Ala97Thr) rs2143827017
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
NM_000152.5(GAA):c.29A>T (p.His10Leu)
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln) rs201902338
NM_000152.5(GAA):c.311_313del (p.Glu104del) rs2039038181
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup) rs2143827403
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.32G>T (p.Arg11Leu) rs138812846
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
NM_000152.5(GAA):c.347G>A (p.Gly116Glu) rs754285414
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.368G>T (p.Gly123Val) rs138034915
NM_000152.5(GAA):c.383T>C (p.Phe128Ser) rs2039041547
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3]) rs1555598846
NM_000152.5(GAA):c.396C>G (p.Ser132Arg) rs2143828304
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
NM_000152.5(GAA):c.41C>T (p.Ala14Val) rs1221096819
NM_000152.5(GAA):c.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.427T>G (p.Ser143Ala) rs1423110429
NM_000152.5(GAA):c.433G>A (p.Glu145Lys) rs2143828679
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.466A>T (p.Thr156Ser) rs1598570529
NM_000152.5(GAA):c.467C>A (p.Thr156Asn) rs1394741472
NM_000152.5(GAA):c.467C>T (p.Thr156Ile) rs1394741472
NM_000152.5(GAA):c.482C>A (p.Pro161His)
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
NM_000152.5(GAA):c.49G>T (p.Ala17Ser) rs751425831
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) rs376685205
NM_000152.5(GAA):c.510C>A (p.Asp170Glu)
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.546+5G>A
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.547-5_547-4delinsGG
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp) rs149295512
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
NM_000152.5(GAA):c.583T>G (p.Leu195Val) rs1323831512
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
NM_000152.5(GAA):c.590C>A (p.Thr197Asn) rs761890037
NM_000152.5(GAA):c.590C>T (p.Thr197Ile) rs761890037
NM_000152.5(GAA):c.593C>A (p.Pro198Gln) rs765075888
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
NM_000152.5(GAA):c.596A>T (p.His199Leu)
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) rs752449306
NM_000152.5(GAA):c.5G>C (p.Gly2Ala) rs1245992455
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
NM_000152.5(GAA):c.623T>C (p.Leu208Pro) rs2039071572
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr) rs2143834814
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr) rs1477774826
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.68C>T (p.Thr23Ile) rs2039027538
NM_000152.5(GAA):c.703A>G (p.Thr235Ala) rs781731240
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.712C>T (p.Pro238Ser) rs1294294268
NM_000152.5(GAA):c.716T>C (p.Leu239Pro) rs2143845990
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.73G>A (p.Ala25Thr)
NM_000152.5(GAA):c.750C>T (p.Thr250=) rs2143846283
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
NM_000152.5(GAA):c.757C>T (p.Pro253Ser) rs2143846362
NM_000152.5(GAA):c.769A>G (p.Ile257Val) rs199674786
NM_000152.5(GAA):c.775G>A (p.Gly259Ser) rs2143846660
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.781G>C (p.Ala261Pro) rs543360994
NM_000152.5(GAA):c.782C>T (p.Ala261Val) rs2143846719
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.796C>A (p.Pro266Thr) rs1555599667
NM_000152.5(GAA):c.809G>A (p.Ser270Asn) rs1429834723
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.83G>A (p.Gly28Glu)
NM_000152.5(GAA):c.840_842dup (p.Arg281dup) rs2039123030
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+5A>G rs2039124887
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.859-3C>T rs1356743231
NM_000152.5(GAA):c.859-8T>G rs2143848824
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.883C>T (p.His295Tyr) rs751639773
NM_000152.5(GAA):c.899C>A (p.Ala300Glu) rs1032949450
NM_000152.5(GAA):c.8T>C (p.Val3Ala) rs1037603957
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.928G>A (p.Val310Met)
NM_000152.5(GAA):c.928G>T (p.Val310Leu) rs941586376
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.954G>A (p.Met318Ile) rs2143850104
NM_000152.5(GAA):c.955+5G>A rs759508507
NM_000152.5(GAA):c.955G>A (p.Asp319Asn) rs1359009455
NM_000152.5(GAA):c.955G>C (p.Asp319His)
NM_000152.5(GAA):c.956-3C>T rs1421879461
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
NM_000152.5(GAA):c.961G>A (p.Val321Ile) rs895612400
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
NM_000152.5(GAA):c.974G>A (p.Ser325Asn) rs905633601
NM_000152.5(GAA):c.976C>T (p.Pro326Ser) rs2039142344
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000152.5(GAA):c.983T>G (p.Leu328Arg)
NM_000152.5(GAA):c.98A>G (p.His33Arg) rs773479616
NM_002294.3(LAMP2):c.*2148AT[8] rs753399289
NM_002294.3(LAMP2):c.*2736T>A rs1057515738
NM_002294.3(LAMP2):c.*2955A>G rs1275264834
NM_002294.3(LAMP2):c.*3347GTTA[1] rs764018077
NM_002294.3(LAMP2):c.*3413T>C rs1180263874
NM_002294.3(LAMP2):c.*3563T>G rs2058504321
NM_002294.3(LAMP2):c.*3677C>A rs1057515737
NM_002294.3(LAMP2):c.*653A>G rs1057515744
NM_002294.3(LAMP2):c.*692G>A rs1057515743
NM_002294.3(LAMP2):c.-103G>C rs1057515747
NM_002294.3(LAMP2):c.-26_-15dup rs1556124241
NM_002294.3(LAMP2):c.1009G>C (p.Val337Leu)
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu)
NM_002294.3(LAMP2):c.1033A>G (p.Ile345Val)
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile)
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.1093+2532G>T rs730880488
NM_002294.3(LAMP2):c.1093+5G>A
NM_002294.3(LAMP2):c.1094-1G>C rs1331940434
NM_002294.3(LAMP2):c.1094-2A>G rs2147273254
NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)
NM_002294.3(LAMP2):c.1105A>G (p.Ser369Gly)
NM_002294.3(LAMP2):c.1117G>A (p.Asp373Asn) rs727503117
NM_002294.3(LAMP2):c.1117G>C (p.Asp373His)
NM_002294.3(LAMP2):c.1118A>T (p.Asp373Val) rs769995100
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu) rs2058522629
NM_002294.3(LAMP2):c.1126C>T (p.Leu376Phe)
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro) rs2058522581
NM_002294.3(LAMP2):c.1175T>C (p.Val392Ala)
NM_002294.3(LAMP2):c.1192A>G (p.Ile398Val)
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.1196G>C (p.Gly399Ala)
NM_002294.3(LAMP2):c.119C>T (p.Thr40Ile)
NM_002294.3(LAMP2):c.1204C>A (p.His402Asn) rs1418868953
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
NM_002294.3(LAMP2):c.1205A>G (p.His402Arg) rs2058522237
NM_002294.3(LAMP2):c.1208A>G (p.His403Arg)
NM_002294.3(LAMP2):c.1211A>G (p.His404Arg)
NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val) rs2058522120
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys) rs2147294900
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu) rs1921666685
NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)
NM_002294.3(LAMP2):c.166A>G (p.Thr56Ala) rs2147287602
NM_002294.3(LAMP2):c.184-18A>G
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro) rs2147286966
NM_002294.3(LAMP2):c.1A>C (p.Met1Leu) rs1556124149
NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu)
NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)
NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile)
NM_002294.3(LAMP2):c.236G>C (p.Cys79Ser)
NM_002294.3(LAMP2):c.251A>G (p.Asn84Ser) rs2147286887
NM_002294.3(LAMP2):c.254G>T (p.Gly85Val)
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu) rs1921665698
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_002294.3(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_002294.3(LAMP2):c.266C>T (p.Ala89Val)
NM_002294.3(LAMP2):c.280C>G (p.Pro94Ala) rs2147286839
NM_002294.3(LAMP2):c.281C>T (p.Pro94Leu)
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu) rs1421127800
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr) rs1305798857
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser) rs1305798857
NM_002294.3(LAMP2):c.331A>G (p.Ile111Val) rs762218821
NM_002294.3(LAMP2):c.334G>A (p.Asp112Asn)
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu)
NM_002294.3(LAMP2):c.358A>C (p.Thr120Pro)
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn) rs730880480
NM_002294.3(LAMP2):c.367A>T (p.Asn123Tyr)
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg) rs1200950486
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu) rs1200950486
NM_002294.3(LAMP2):c.382G>T (p.Asp128Tyr)
NM_002294.3(LAMP2):c.398G>A (p.Gly133Glu) rs2147283120
NM_002294.3(LAMP2):c.409G>C (p.Val137Leu) rs2147283117
NM_002294.3(LAMP2):c.413A>G (p.Asp138Gly)
NM_002294.3(LAMP2):c.416A>T (p.Glu139Val) rs1602536486
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro) rs2058610678
NM_002294.3(LAMP2):c.425C>T (p.Ala142Val)
NM_002294.3(LAMP2):c.449T>A (p.Leu150His)
NM_002294.3(LAMP2):c.455G>A (p.Arg152Lys)
NM_002294.3(LAMP2):c.458G>A (p.Cys153Tyr) rs2058610425
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe) rs2058610425
NM_002294.3(LAMP2):c.463A>G (p.Ser155Gly)
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser) rs1385890053
NM_002294.3(LAMP2):c.490G>A (p.Val164Ile)
NM_002294.3(LAMP2):c.493G>C (p.Val165Leu)
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile) rs777718603
NM_002294.3(LAMP2):c.525_526insGTTGTCCAACACTACTGGGATATTCTTGTACAAGCT (p.Ala175_Phe176insValValGlnHisTyrTrpAspIleLeuValGlnAla)
NM_002294.3(LAMP2):c.52T>C (p.Cys18Arg)
NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro) rs775432228
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser) rs1207197859
NM_002294.3(LAMP2):c.561C>G (p.Phe187Leu)
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu) rs2058605695
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_002294.3(LAMP2):c.581C>G (p.Thr194Ser)
NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile)
NM_002294.3(LAMP2):c.586A>G (p.Thr196Ala)
NM_002294.3(LAMP2):c.589G>A (p.Val197Met)
NM_002294.3(LAMP2):c.589G>C (p.Val197Leu) rs1360458497
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly) rs1921661568
NM_002294.3(LAMP2):c.602T>C (p.Ile201Thr) rs876657844
NM_002294.3(LAMP2):c.610A>C (p.Thr204Pro) rs876657845
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys) rs2058604992
NM_002294.3(LAMP2):c.638C>T (p.Thr213Ile)
NM_002294.3(LAMP2):c.63G>C (p.Leu21=)
NM_002294.3(LAMP2):c.64+16C>T rs780307352
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu) rs2058604823
NM_002294.3(LAMP2):c.65-6A>G rs1921113552
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)
NM_002294.3(LAMP2):c.688G>A (p.Asp230Asn)
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val) rs2058604458
NM_002294.3(LAMP2):c.710T>C (p.Met237Thr) rs2147282386
NM_002294.3(LAMP2):c.713G>C (p.Gly238Ala)
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val) rs730880481
NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser) rs1288096114
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu) rs1246477767
NM_002294.3(LAMP2):c.737A>G (p.Asp246Gly) rs730880482
NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu)
NM_002294.3(LAMP2):c.741+6G>A
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr) rs2058596707
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr) rs141541387
NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser) rs1569369275
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg) rs111703410
NM_002294.3(LAMP2):c.806C>T (p.Thr269Ile)
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys) rs1449153826
NM_002294.3(LAMP2):c.80A>T (p.Tyr27Phe)
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro) rs1569369217
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_002294.3(LAMP2):c.823A>C (p.Asn275His) rs143699208
NM_002294.3(LAMP2):c.823A>G (p.Asn275Asp)
NM_002294.3(LAMP2):c.832A>C (p.Thr278Pro) rs2147281387
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.850T>C (p.Phe284Leu)
NM_002294.3(LAMP2):c.864+5G>T rs1352584474
NM_002294.3(LAMP2):c.864+6T>C rs2147281347
NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser)
NM_002294.3(LAMP2):c.878G>A (p.Arg293Gln) rs1224940162
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro) rs730880486
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
NM_002294.3(LAMP2):c.906C>T (p.Ser302=)
NM_002294.3(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_002294.3(LAMP2):c.919A>G (p.Asn307Asp) rs2147279488
NM_002294.3(LAMP2):c.928+3A>G rs2147279469
NM_002294.3(LAMP2):c.928+4A>G rs1602532732
NM_002294.3(LAMP2):c.928+5G>A
NM_002294.3(LAMP2):c.92T>G (p.Leu31Arg)
NM_002294.3(LAMP2):c.937A>C (p.Ile313Leu)
NM_002294.3(LAMP2):c.938T>G (p.Ile313Ser)
NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser) rs866736614
NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)
NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg)
NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_013995.2(LAMP2):c.-168dup rs760941179

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