ClinVar Miner

List of variants in gene ALMS1 studied for not specified

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Gene type:
ClinVar version:
Total variants: 315
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10058C>G (p.Pro3353Arg)
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10572A>G (p.Glu3524=)
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114
NM_001378454.1(ALMS1):c.11560G>A (p.Val3854Met)
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562
NM_001378454.1(ALMS1):c.11696A>G (p.Lys3899Arg) rs1347288383
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161
NM_001378454.1(ALMS1):c.12109C>G (p.Leu4037Val)
NM_001378454.1(ALMS1):c.12115-8del
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp)
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.3325C>A (p.Gln1109Lys)
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
NM_001378454.1(ALMS1):c.36_38GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_38GGA[21] (p.Glu21_Glu28dup)
NM_001378454.1(ALMS1):c.3730A>G (p.Lys1244Glu)
NM_001378454.1(ALMS1):c.3731A>T (p.Lys1244Met)
NM_001378454.1(ALMS1):c.384A>G (p.Thr128=)
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4709C>T (p.Ser1570Phe)
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319
NM_001378454.1(ALMS1):c.5602C>A (p.Leu1868Ile) rs1553404102
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr) rs369339997
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=)
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116
NM_001378454.1(ALMS1):c.8122A>G (p.Met2708Val) rs371904071
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.9324A>G (p.Ala3108=)
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233
NM_015120.4(ALMS1):c.-21C>T rs530120421
NM_015120.4(ALMS1):c.-27_-25dupCTC rs746980000
NM_015120.4(ALMS1):c.-45C>G rs539250179
NM_015120.4(ALMS1):c.10079-11C>T rs368250605
NM_015120.4(ALMS1):c.10213+12G>A rs527508238
NM_015120.4(ALMS1):c.10213+7A>G rs1553416882
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) rs78108069
NM_015120.4(ALMS1):c.10357A>G (p.Asn3453Asp) rs573748379
NM_015120.4(ALMS1):c.10465G>T (p.Val3489Leu) rs1057523167
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10861A>C (p.Arg3621=) rs201598829
NM_015120.4(ALMS1):c.10872G>C (p.Leu3624=) rs775336312
NM_015120.4(ALMS1):c.10873T>C (p.Ser3625Pro) rs1573030477
NM_015120.4(ALMS1):c.1096G>A (p.Asp366Asn) rs1229379546
NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) rs766771102
NM_015120.4(ALMS1):c.11076G>A (p.Glu3692=) rs1421582809
NM_015120.4(ALMS1):c.11146A>G (p.Lys3716Glu) rs765505349
NM_015120.4(ALMS1):c.11216G>A (p.Arg3739Gln) rs200378498
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.1126A>T (p.Ile376Leu) rs886038611
NM_015120.4(ALMS1):c.11319G>T (p.Glu3773Asp) rs1019748558
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11382T>C (p.Ala3794=) rs377090880
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) rs750087396
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11587T>C (p.Ser3863Pro) rs202227966
NM_015120.4(ALMS1):c.11604C>T (p.Phe3868=) rs80009262
NM_015120.4(ALMS1):c.11613A>G (p.Ser3871=) rs188172095
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11751G>A (p.Glu3917=) rs373364340
NM_015120.4(ALMS1):c.11801G>A (p.Arg3934His) rs45576434
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11872+18G>A rs139647347
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val) rs201728850
NM_015120.4(ALMS1):c.1200A>G (p.Thr400=) rs756136557
NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) rs200462734
NM_015120.4(ALMS1):c.12079A>G (p.Arg4027Gly) rs754439156
NM_015120.4(ALMS1):c.12114+14G>T rs1057524070
NM_015120.4(ALMS1):c.12129G>A (p.Gln4043=) rs763332177
NM_015120.4(ALMS1):c.12150C>T (p.Ile4050=) rs374328093
NM_015120.4(ALMS1):c.12154C>T (p.Arg4052Cys) rs201874056
NM_015120.4(ALMS1):c.12230G>A (p.Arg4077Gln) rs200814417
NM_015120.4(ALMS1):c.12237A>G (p.Ala4079=) rs374508659
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12298+5G>A rs371853987
NM_015120.4(ALMS1):c.12299-19C>T rs1553422031
NM_015120.4(ALMS1):c.12324C>T (p.Asn4108=) rs767420244
NM_015120.4(ALMS1):c.12362+16_12362+27delinsTGAGTTTGTG rs1064795877
NM_015120.4(ALMS1):c.12362+16_12362+29delinsTGAGTTTGTGTG rs1064795814
NM_015120.4(ALMS1):c.12362+17_12362+27delinsGAGTTTGTG rs1064796118
NM_015120.4(ALMS1):c.1237+9C>G rs201471551
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.1248G>T (p.Leu416=) rs1553400953
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1433-12_1433-10dup rs1064795386
NM_015120.4(ALMS1):c.1433-9_1433-8insCTT rs1064795791
NM_015120.4(ALMS1):c.1454G>A (p.Gly485Asp) rs374663067
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1524A>C (p.Gly508=) rs760374410
NM_015120.4(ALMS1):c.1551C>G (p.Asp517Glu) rs202002052
NM_015120.4(ALMS1):c.1560G>A (p.Gln520=) rs764869245
NM_015120.4(ALMS1):c.1573_1575dup (p.Ser525dup) rs797045226
NM_015120.4(ALMS1):c.1574_1576CTC[1] (p.Pro526del) rs34628045
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.1710A>G (p.Thr570=) rs752130351
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1734T>C (p.His578=) rs768761501
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1870T>C (p.Ser624Pro) rs767987501
NM_015120.4(ALMS1):c.1980G>A (p.Thr660=) rs201316401
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.2068A>G (p.Thr690Ala) rs201804994
NM_015120.4(ALMS1):c.2106A>C (p.Pro702=) rs750362630
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2139C>T (p.Leu713=) rs747504060
NM_015120.4(ALMS1):c.2194G>A (p.Ala732Thr) rs1337404560
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.2312C>T (p.Pro771Leu) rs187132771
NM_015120.4(ALMS1):c.2325C>T (p.Tyr775=) rs752503817
NM_015120.4(ALMS1):c.2357A>G (p.Glu786Gly) rs17848880
NM_015120.4(ALMS1):c.2416A>G (p.Thr806Ala) rs772260271
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2439A>G (p.Ser813=) rs925267503
NM_015120.4(ALMS1):c.2539G>A (p.Gly847Arg) rs201154998
NM_015120.4(ALMS1):c.2661A>G (p.Lys887=) rs80133984
NM_015120.4(ALMS1):c.2664A>G (p.Val888=) rs76266696
NM_015120.4(ALMS1):c.2668A>G (p.Ile890Val) rs377282102
NM_015120.4(ALMS1):c.2733C>T (p.His911=) rs189923349
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.2877C>T (p.Ser959=) rs541122374
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.3041A>G (p.Tyr1014Cys) rs371893544
NM_015120.4(ALMS1):c.3099C>A (p.Gly1033=) rs368659119
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.324+21G>A rs11126399
NM_015120.4(ALMS1):c.3269C>G (p.Thr1090Arg) rs556855697
NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) rs201074268
NM_015120.4(ALMS1):c.3322T>C (p.Tyr1108His) rs746162373
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3402G>A (p.Lys1134=) rs376683428
NM_015120.4(ALMS1):c.3594A>G (p.Lys1198=) rs773852068
NM_015120.4(ALMS1):c.3692G>A (p.Gly1231Glu) rs372619046
NM_015120.4(ALMS1):c.3693G>A (p.Gly1231=) rs1057523614
NM_015120.4(ALMS1):c.36_38GGA[10] (p.Glu26_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[11] (p.Glu27_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[20] (p.Glu24_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[9] (p.Glu25_Glu29del) rs55889738
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3870T>C (p.Tyr1290=) rs369314182
NM_015120.4(ALMS1):c.3884G>C (p.Ser1295Thr) rs373835067
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4114A>G (p.Thr1372Ala) rs1572934899
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4152A>G (p.Gln1384=) rs370508895
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
NM_015120.4(ALMS1):c.41_42insAGA (p.Glu29dup) rs1553396124
NM_015120.4(ALMS1):c.4241G>C (p.Gly1414Ala) rs886038612
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4397C>T (p.Thr1466Met) rs200980776
NM_015120.4(ALMS1):c.4408C>A (p.Pro1470Thr) rs373638043
NM_015120.4(ALMS1):c.451-5T>G rs774098604
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4768C>A (p.His1590Asn) rs771703863
NM_015120.4(ALMS1):c.4811C>G (p.Pro1604Arg) rs1572935792
NM_015120.4(ALMS1):c.4827_4829del (p.Asp1610del) rs1057518311
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.48G>A (p.Glu16=) rs1558624512
NM_015120.4(ALMS1):c.4992T>C (p.Thr1664=) rs774538998
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5186A>G (p.Asp1729Gly) rs879255405
NM_015120.4(ALMS1):c.5248A>G (p.Thr1750Ala) rs546111188
NM_015120.4(ALMS1):c.5377_5378delinsAT (p.Ala1793Ile) rs1131691296
NM_015120.4(ALMS1):c.5460G>A (p.Glu1820=) rs886038613
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.5499A>G (p.Arg1833=) rs1572936704
NM_015120.4(ALMS1):c.5578A>G (p.Ile1860Val) rs1558650343
NM_015120.4(ALMS1):c.5623A>G (p.Lys1875Glu) rs886038614
NM_015120.4(ALMS1):c.5637T>C (p.Val1879=) rs1057524275
NM_015120.4(ALMS1):c.5831G>T (p.Arg1944Leu) rs146669152
NM_015120.4(ALMS1):c.5890G>A (p.Glu1964Lys) rs45484791
NM_015120.4(ALMS1):c.5921C>A (p.Pro1974Gln) rs199615641
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) rs28730854
NM_015120.4(ALMS1):c.6382C>T (p.Pro2128Ser) rs771800459
NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) rs776254949
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6526G>A (p.Ala2176Thr) rs1572937937
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.66G>A (p.Glu22=) rs1004961829
NM_015120.4(ALMS1):c.671C>A (p.Ser224Tyr) rs886038615
NM_015120.4(ALMS1):c.674C>A (p.Pro225His) rs11889925
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.6827A>G (p.Lys2276Arg) rs1057518307
NM_015120.4(ALMS1):c.6843T>G (p.Pro2281=) rs45580837
NM_015120.4(ALMS1):c.6857G>T (p.Arg2286Leu) rs6546839
NM_015120.4(ALMS1):c.68_69insAGA (p.Glu29dup) rs1553396148
NM_015120.4(ALMS1):c.6979A>G (p.Ser2327Gly) rs560736902
NM_015120.4(ALMS1):c.69_77dup rs55889738
NM_015120.4(ALMS1):c.7220C>T (p.Pro2407Leu) rs1481573722
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7291A>C (p.Ser2431Arg) rs539112266
NM_015120.4(ALMS1):c.7380C>T (p.Ser2460=) rs867561704
NM_015120.4(ALMS1):c.7467A>G (p.Gln2489=) rs765766155
NM_015120.4(ALMS1):c.7541-6C>T rs1408073039
NM_015120.4(ALMS1):c.7562A>G (p.Asn2521Ser) rs377085127
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.764+17G>T rs1057524596
NM_015120.4(ALMS1):c.764+18C>T rs1553400459
NM_015120.4(ALMS1):c.764+20T>A rs1881246
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.7746C>T (p.Ser2582=) rs370740871
NM_015120.4(ALMS1):c.7823C>G (p.Ala2608Gly) rs140223281
NM_015120.4(ALMS1):c.78_83del (p.Glu28_Glu29del) rs754175473
NM_015120.4(ALMS1):c.7929T>C (p.Val2643=) rs749406009
NM_015120.4(ALMS1):c.80_88del (p.Glu27_Glu29del) rs797045229
NM_015120.4(ALMS1):c.8163C>T (p.His2721=) rs992844961
NM_015120.4(ALMS1):c.8214T>C (p.Thr2738=) rs759935089
NM_015120.4(ALMS1):c.8227T>G (p.Cys2743Gly) rs774945791
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8271A>G (p.Glu2757=) rs886038616
NM_015120.4(ALMS1):c.8277A>G (p.Gln2759=) rs181226362
NM_015120.4(ALMS1):c.8362A>G (p.Ile2788Val) rs200075429
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) rs886038617
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8456C>T (p.Thr2819Ile) rs373211307
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8658A>G (p.Arg2886=) rs377249623
NM_015120.4(ALMS1):c.8724T>C (p.Ser2908=) rs1386201636
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.876T>G (p.Ser292Arg) rs747529881
NM_015120.4(ALMS1):c.8782C>A (p.Arg2928=) rs376244626
NM_015120.4(ALMS1):c.8783G>A (p.Arg2928Gln) rs778162209
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8893A>G (p.Ile2965Val) rs529506570
NM_015120.4(ALMS1):c.8901T>A (p.Leu2967=) rs1572970207
NM_015120.4(ALMS1):c.8907A>G (p.Gln2969=) rs777796888
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.8983G>A (p.Val2995Ile) rs45566838
NM_015120.4(ALMS1):c.9076C>A (p.Pro3026Thr) rs773480197
NM_015120.4(ALMS1):c.9078A>G (p.Pro3026=) rs1278648561
NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) rs779818117
NM_015120.4(ALMS1):c.9148A>G (p.Ile3050Val) rs202228570
NM_015120.4(ALMS1):c.9307T>C (p.Leu3103=) rs537370242
NM_015120.4(ALMS1):c.9321T>G (p.Pro3107=) rs771679163
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_015120.4(ALMS1):c.945T>C (p.Pro315=) rs886038618
NM_015120.4(ALMS1):c.9463A>T (p.Thr3155Ser) rs553507775
NM_015120.4(ALMS1):c.948T>C (p.Ser316=) rs183390773
NM_015120.4(ALMS1):c.94_96GCG[7] (p.Ala35_Ala36dup) rs746896173
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9636G>A (p.Lys3212=) rs373013570
NM_015120.4(ALMS1):c.9642A>G (p.Leu3214=) rs566943393
NM_015120.4(ALMS1):c.9655A>T (p.Ile3219Phe) rs771768835
NM_015120.4(ALMS1):c.9696G>A (p.Glu3232=) rs764518519
NM_015120.4(ALMS1):c.9711G>A (p.Lys3237=) rs574095166
NM_015120.4(ALMS1):c.9770C>G (p.Ser3257Cys) rs200922218
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9781+19A>G rs895296631
NM_015120.4(ALMS1):c.9781+19del rs751238172
NM_015120.4(ALMS1):c.9782-19C>A rs777706370
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9870G>A (p.Pro3290=) rs773900415
NM_015120.4(ALMS1):c.9874T>C (p.Ser3292Pro) rs759591871
NM_015120.4(ALMS1):c.9889A>G (p.Thr3297Ala) rs58806616
NM_015120.4(ALMS1):c.9900C>T (p.Ser3300=) rs1217540541
NM_015120.4(ALMS1):c.9907+20C>T rs74730457
NM_015120.4(ALMS1):c.9908-12G>A rs376627151

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