ClinVar Miner

List of variants in gene ALMS1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 332
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HGVS dbSNP
NC_000002.12:g.73424408_73424411del
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.10082-11C>T rs368250605
NM_015120.4(ALMS1):c.10149dup (p.Ser3384fs) rs1553416872
NM_015120.4(ALMS1):c.10172C>T (p.Ala3391Val) rs905527689
NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) rs34617744
NM_015120.4(ALMS1):c.10213+22C>T
NM_015120.4(ALMS1):c.10214-214G>A
NM_015120.4(ALMS1):c.10216+12G>A rs527508238
NM_015120.4(ALMS1):c.10216+7A>G rs1553416882
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=)
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
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.1035A>G (p.Ser345=)
NM_015120.4(ALMS1):c.10385-239C>A
NM_015120.4(ALMS1):c.10465G>C (p.Val3489Leu) rs1057523167
NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) rs28730858
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10777A>G (p.Thr3593Ala) rs200467041
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) rs766771102
NM_015120.4(ALMS1):c.11057G>A (p.Ser3686Asn) rs11896293
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.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11207C>T (p.Ser3736Leu) rs367877017
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.11258A>G (p.Asn3753Ser) rs199917289
NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser) rs34927702
NM_015120.4(ALMS1):c.11311_11312del (p.Thr3770_Asp3771insTer) rs1553418578
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11382T>C (p.Ala3794=) rs377090880
NM_015120.4(ALMS1):c.11395_11396AG[1] (p.Arg3799fs) rs1553418598
NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) rs201028172
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) rs35760114
NM_015120.4(ALMS1):c.11551-3T>C rs555547573
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.11668+119A>G
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.11767A>G (p.Asn3923Asp) rs45486496
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.11775T>C (p.Asp3925=)
NM_015120.4(ALMS1):c.1177C>T (p.Arg393Cys) rs3813227
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
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.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.11876-12T>C rs1320374
NM_015120.4(ALMS1):c.11942C>T (p.Thr3981Ile) rs200568988
NM_015120.4(ALMS1):c.11994G>A (p.Trp3998Ter) rs1553421725
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.1200A>G (p.Thr400=) rs756136557
NM_015120.4(ALMS1):c.12040G>A (p.Gly4014Ser) rs541576664
NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) rs200462734
NM_015120.4(ALMS1):c.12092G>A (p.Arg4031Lys) rs1052161
NM_015120.4(ALMS1):c.12111C>G (p.Thr4037=) rs767174517
NM_015120.4(ALMS1):c.12114+33G>A
NM_015120.4(ALMS1):c.12115-100C>T
NM_015120.4(ALMS1):c.12116A>G (p.Gln4039Arg) rs1057524132
NM_015120.4(ALMS1):c.12117+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.1215dup (p.Lys406Ter) rs1553400785
NM_015120.4(ALMS1):c.12178C>T (p.Leu4060=) rs1052162
NM_015120.4(ALMS1):c.12208C>T (p.Gln4070Ter) rs1558712413
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) rs375314465
NM_015120.4(ALMS1):c.12278G>T (p.Arg4093Leu) rs748624161
NM_015120.4(ALMS1):c.12298+183C>T
NM_015120.4(ALMS1):c.12301+5G>A rs371853987
NM_015120.4(ALMS1):c.12302-19C>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.12362+181G>A
NM_015120.4(ALMS1):c.12362+23A>T
NM_015120.4(ALMS1):c.12362+24C>T
NM_015120.4(ALMS1):c.12362+27A>G
NM_015120.4(ALMS1):c.12362+57C>T
NM_015120.4(ALMS1):c.12363-294A>C
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.12379C>T (p.Leu4127Phe) rs746923966
NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) rs371587051
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.12428A>G (p.Tyr4143Cys) rs775032572
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.12462+205G>C
NM_015120.4(ALMS1):c.1248G>T (p.Leu416=) rs1553400953
NM_015120.4(ALMS1):c.1250A>G (p.Gln417Arg) rs777072028
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.139G>A (p.Val47Met) rs1057524276
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1433-12_1433-10dup rs1064795386
NM_015120.4(ALMS1):c.1436-9_1436-8insCTT rs1064795791
NM_015120.4(ALMS1):c.1454G>A (p.Gly485Asp) rs374663067
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.1574_1576CTC[1] (p.Pro526del) rs34628045
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1637C>T (p.Thr546Ile) rs772068213
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.1727_1728delinsCTAGT (p.His576delinsProSer) rs1064795650
NM_015120.4(ALMS1):c.1734T>C (p.His578=) rs768761501
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=)
NM_015120.4(ALMS1):c.1870T>C (p.Ser624Pro) rs767987501
NM_015120.4(ALMS1):c.1874A>G (p.His625Arg) rs41291187
NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) rs116033693
NM_015120.4(ALMS1):c.1977G>A (p.Lys659=)
NM_015120.4(ALMS1):c.1979C>T (p.Thr660Met) rs199682595
NM_015120.4(ALMS1):c.2018T>G (p.Val673Gly) rs2037814
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.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) rs387906313
NM_015120.4(ALMS1):c.2187A>G (p.Gln729=) rs572605877
NM_015120.4(ALMS1):c.2193C>T (p.Phe731=) rs7598901
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.2322G>A (p.Leu774=) rs28730851
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.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2439A>G (p.Ser813=) rs925267503
NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) rs370830603
NM_015120.4(ALMS1):c.2538C>G (p.Asp846Glu) rs77517267
NM_015120.4(ALMS1):c.2538C>T (p.Asp846=) rs77517267
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.269C>T (p.Pro90Leu) rs989191437
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.3050A>C (p.Glu1017Ala) rs1085307601
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.3099C>A (p.Gly1033=) rs368659119
NM_015120.4(ALMS1):c.3106C>T (p.Pro1036Ser) rs531648685
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3269C>G (p.Thr1090Arg) rs556855697
NM_015120.4(ALMS1):c.327+21G>A rs11126399
NM_015120.4(ALMS1):c.3270A>G (p.Thr1090=)
NM_015120.4(ALMS1):c.3293A>G (p.Tyr1098Cys) rs201816596
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.3382C>T (p.Pro1128Ser) rs182127619
NM_015120.4(ALMS1):c.3402G>A (p.Lys1134=) rs376683428
NM_015120.4(ALMS1):c.3423C>T (p.Thr1141=)
NM_015120.4(ALMS1):c.349G>A (p.Val117Ile) rs752342634
NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) rs772287164
NM_015120.4(ALMS1):c.3577T>G (p.Tyr1193Asp) rs1553403697
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[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.3897A>G (p.Gln1299=) rs112034360
NM_015120.4(ALMS1):c.3902C>A (p.Ser1301Ter) rs769219669
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.4027G>A (p.Val1343Ile) rs751346260
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.4182A>G (p.Gln1394=) rs6546836
NM_015120.4(ALMS1):c.4188G>A (p.Ser1396=)
NM_015120.4(ALMS1):c.41_42insAGA (p.Glu29dup) rs1553396124
NM_015120.4(ALMS1):c.4207A>G (p.Thr1403Ala) rs199649563
NM_015120.4(ALMS1):c.4247G>C (p.Gly1416Ala) rs6546837
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.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.4451T>C (p.Ile1484Thr) rs370271775
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.4827_4829del (p.Asp1610del) rs1057518311
NM_015120.4(ALMS1):c.4859C>T (p.Ala1620Val) rs1085307684
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.4886A>G (p.Tyr1629Cys) rs375939859
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn) rs28730853
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.4992T>C (p.Thr1664=) rs774538998
NM_015120.4(ALMS1):c.5009G>T (p.Gly1670Val) rs267599447
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.520_524dup (p.Phe176fs) rs1553399962
NM_015120.4(ALMS1):c.5224G>C (p.Val1742Leu) rs962844498
NM_015120.4(ALMS1):c.5362A>G (p.Asn1788Asp) rs45608038
NM_015120.4(ALMS1):c.5377_5378delinsAT (p.Ala1793Ile) rs1131691296
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.5629A>G (p.Ile1877Val) rs6546838
NM_015120.4(ALMS1):c.5637T>C (p.Val1879=) rs1057524275
NM_015120.4(ALMS1):c.5686T>A (p.Ser1896Thr) rs1288519568
NM_015120.4(ALMS1):c.5770G>C (p.Val1924Leu) rs772665115
NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) rs17009061
NM_015120.4(ALMS1):c.5830C>A (p.Arg1944Ser) rs370398704
NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) rs370398704
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.6215T>C (p.Ile2072Thr) rs10496192
NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) rs28730854
NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) rs28730854
NM_015120.4(ALMS1):c.6339T>A (p.Ser2113Arg) rs6724782
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) rs776254949
NM_015120.4(ALMS1):c.6445C>A (p.Pro2149Thr) rs377360750
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6527C>T (p.Ala2176Val) rs549259627
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.66G>A (p.Glu22=) rs1004961829
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.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.6827A>G (p.Lys2276Arg) rs1057518307
NM_015120.4(ALMS1):c.6830G>A (p.Arg2277Gln) rs200979896
NM_015120.4(ALMS1):c.6857G>C (p.Arg2286Pro) rs6546839
NM_015120.4(ALMS1):c.68_69insAGA (p.Glu29dup) rs1553396148
NM_015120.4(ALMS1):c.6902T>C (p.Val2301Ala) rs1057523384
NM_015120.4(ALMS1):c.7016C>A (p.Thr2339Lys) rs373004988
NM_015120.4(ALMS1):c.7202G>A (p.Gly2401Glu) rs373985919
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7291A>G (p.Ser2431Gly) 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.7495G>A (p.Glu2499Lys) rs1057524023
NM_015120.4(ALMS1):c.7529G>A (p.Arg2510Gln) rs551433143
NM_015120.4(ALMS1):c.7541-163A>G
NM_015120.4(ALMS1):c.7541-180G>C
NM_015120.4(ALMS1):c.7541-33T>C
NM_015120.4(ALMS1):c.760C>T (p.Pro254Ser) rs368153355
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.767+17G>T rs1057524596
NM_015120.4(ALMS1):c.767+18C>T rs1553400459
NM_015120.4(ALMS1):c.767+20T>A rs1881246
NM_015120.4(ALMS1):c.7675-144C>G
NM_015120.4(ALMS1):c.7675-64A>T
NM_015120.4(ALMS1):c.7675-66A>T
NM_015120.4(ALMS1):c.7679G>A (p.Gly2560Asp) rs1248528012
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.7727G>A (p.Ser2576Asn) rs3820700
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.7929T>C (p.Val2643=) rs749406009
NM_015120.4(ALMS1):c.800G>A (p.Trp267Ter) rs1558639105
NM_015120.4(ALMS1):c.8020G>C (p.Asp2674His) rs2017116
NM_015120.4(ALMS1):c.8114C>T (p.Ser2705Phe) rs761272792
NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) rs371904071
NM_015120.4(ALMS1):c.8171C>A (p.Ser2724Tyr) rs368409205
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.8277A>G (p.Gln2759=) rs181226362
NM_015120.4(ALMS1):c.8284C>G (p.Pro2762Ala) rs369650940
NM_015120.4(ALMS1):c.8309C>T (p.Ser2770Phe) rs1060500037
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
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.8484G>T (p.Arg2828Ser) rs2056486
NM_015120.4(ALMS1):c.8536A>G (p.Ile2846Val) rs1057524748
NM_015120.4(ALMS1):c.8573A>G (p.Asn2858Ser) rs10193972
NM_015120.4(ALMS1):c.8647C>T (p.Leu2883Phe) rs373944325
NM_015120.4(ALMS1):c.8676C>A (p.Ser2892Arg) rs755823751
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.8838C>G (p.Asn2946Lys) rs35062203
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.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.8983G>A (p.Val2995Ile) rs45566838
NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) rs779818117
NM_015120.4(ALMS1):c.928C>T (p.Gln310Ter) rs1558639213
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.9380A>G (p.Gln3127Arg) rs1553409872
NM_015120.4(ALMS1):c.948T>C (p.Ser316=) rs183390773
NM_015120.4(ALMS1):c.94_96GCG[3] (p.Ala35_Ala36del)
NM_015120.4(ALMS1):c.94_96GCG[7] (p.Ala35_Ala36dup) rs746896173
NM_015120.4(ALMS1):c.9540-259T>C
NM_015120.4(ALMS1):c.9564C>T (p.Thr3188=) rs11884776
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.9696G>A (p.Glu3232=) rs764518519
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9763A>C (p.Thr3255Pro) rs1553412796
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+19del rs751238172
NM_015120.4(ALMS1):c.9782-70G>A
NM_015120.4(ALMS1):c.9784+19A>G rs895296631
NM_015120.4(ALMS1):c.9785-19C>A rs777706370
NM_015120.4(ALMS1):c.9785-9C>T rs10199680
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.9883G>C (p.Asp3295His) rs200441305
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+129T>G
NM_015120.4(ALMS1):c.9907+160A>G
NM_015120.4(ALMS1):c.9907+309G>A
NM_015120.4(ALMS1):c.9910+20C>T rs74730457
NM_015120.4(ALMS1):c.9911-12G>A rs376627151
NM_015120.4(ALMS1):c.9917A>G (p.Asn3306Ser) rs142022233

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