ClinVar Miner

List of variants in gene ALMS1 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 390
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HGVS dbSNP
NM_015120.4(ALMS1):c.10041C>T (p.Ser3347=) rs375436336
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.10151G>A (p.Ser3384Asn) rs1553416873
NM_015120.4(ALMS1):c.10180G>T (p.Ala3394Ser)
NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) rs34617744
NM_015120.4(ALMS1):c.10241A>G (p.Glu3414Gly) rs184779459
NM_015120.4(ALMS1):c.10272_10274GAA[1] (p.Lys3425del) rs1184260245
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10321A>G (p.Arg3441Gly) rs746702722
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) rs78108069
NM_015120.4(ALMS1):c.10341G>T (p.Glu3447Asp) rs928444733
NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) rs28730858
NM_015120.4(ALMS1):c.10536G>T (p.Trp3512Cys)
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10638A>G (p.Ile3546Met) rs760321819
NM_015120.4(ALMS1):c.10679del (p.Val3560fs)
NM_015120.4(ALMS1):c.106G>C (p.Ala36Pro) rs955371491
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.10707A>C (p.Arg3569Ser) rs758987316
NM_015120.4(ALMS1):c.10726G>A (p.Gly3576Arg)
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10775del (p.Thr3592fs) rs387906312
NM_015120.4(ALMS1):c.10777A>C (p.Thr3593Pro) rs200467041
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.10835A>G (p.Gln3612Arg) rs45452795
NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) rs377601961
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.10933C>G (p.Leu3645Val) rs1060500033
NM_015120.4(ALMS1):c.10950T>C (p.Ser3650=) rs373024720
NM_015120.4(ALMS1):c.1099C>G (p.Gln367Glu)
NM_015120.4(ALMS1):c.11009A>G (p.Gln3670Arg)
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11048_11059del (p.Leu3683_Ser3686del) rs757734472
NM_015120.4(ALMS1):c.11057G>A (p.Ser3686Asn) rs11896293
NM_015120.4(ALMS1):c.11120C>G (p.Ser3707Cys) rs533965968
NM_015120.4(ALMS1):c.11143A>G (p.Ile3715Val) rs370536187
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.11266T>A (p.Ser3756Thr) rs878854995
NM_015120.4(ALMS1):c.11269G>A (p.Gly3757Ser) rs34927702
NM_015120.4(ALMS1):c.1129A>C (p.Thr377Pro)
NM_015120.4(ALMS1):c.1129A>T (p.Thr377Ser) rs376750978
NM_015120.4(ALMS1):c.11312A>G (p.Asp3771Gly) rs770147613
NM_015120.4(ALMS1):c.11314_11315AG[1] (p.Glu3773fs) rs747272625
NM_015120.4(ALMS1):c.11332G>A (p.Glu3778Lys) rs565098671
NM_015120.4(ALMS1):c.11335A>G (p.Arg3779Gly)
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11410C>T (p.Pro3804Ser) rs189032342
NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) rs201028172
NM_015120.4(ALMS1):c.11418_11422AATTA[1] (p.Lys3808fs) rs1553418609
NM_015120.4(ALMS1):c.11450_11451AG[1] (p.Arg3818fs)
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11484C>T (p.Ser3828=)
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) rs35760114
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.11629A>G (p.Asn3877Asp) rs377130177
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.11647_11648del (p.Met3883fs)
NM_015120.4(ALMS1):c.11692G>A (p.Gly3898Ser)
NM_015120.4(ALMS1):c.11708C>G (p.Thr3903Ser) rs369008610
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11726del (p.Thr3909fs)
NM_015120.4(ALMS1):c.11731C>G (p.Pro3911Ala) rs761099182
NM_015120.4(ALMS1):c.11740A>C (p.Ser3914Arg) rs776963509
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.1177C>A (p.Arg393Ser) rs3813227
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.11857A>G (p.Lys3953Glu)
NM_015120.4(ALMS1):c.1185T>C (p.Tyr395=) rs139512700
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val)
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) rs200462734
NM_015120.4(ALMS1):c.12089T>C (p.Leu4030Pro)
NM_015120.4(ALMS1):c.12117+4C>T rs373191489
NM_015120.4(ALMS1):c.12120A>C (p.Glu4040Asp)
NM_015120.4(ALMS1):c.12122C>T (p.Ser4041Leu)
NM_015120.4(ALMS1):c.12154C>T (p.Arg4052Cys)
NM_015120.4(ALMS1):c.12167G>A (p.Arg4056Gln) rs752714698
NM_015120.4(ALMS1):c.12176G>A (p.Arg4059His) rs61743400
NM_015120.4(ALMS1):c.12222G>T (p.Gln4074His) rs878854996
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12353A>G (p.Gln4118Arg) rs200038446
NM_015120.4(ALMS1):c.12366-6T>G rs1553422641
NM_015120.4(ALMS1):c.1241-9A>G rs372652836
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1403C>T (p.Thr468Ile) rs201990757
NM_015120.4(ALMS1):c.1423C>A (p.His475Asn) rs200454461
NM_015120.4(ALMS1):c.1435+5G>A rs755613962
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.1519A>T (p.Ile507Phe)
NM_015120.4(ALMS1):c.1523G>C (p.Gly508Ala) rs1553403257
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.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1642C>G (p.Leu548Val)
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1764G>C (p.Gln588His) rs1553403313
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.1858T>C (p.Ser620Pro)
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.1887T>C (p.Pro629=) rs373831151
NM_015120.4(ALMS1):c.1889G>A (p.Gly630Asp)
NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) rs116033693
NM_015120.4(ALMS1):c.1929C>T (p.Thr643=) rs745591025
NM_015120.4(ALMS1):c.1968G>A (p.Val656=) rs1553403345
NM_015120.4(ALMS1):c.1995A>G (p.Val665=) rs894774935
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.203G>A (p.Ser68Asn)
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.2097G>T (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2124G>T (p.Gly708=) rs878854997
NM_015120.4(ALMS1):c.2155C>T (p.His719Tyr) rs199572177
NM_015120.4(ALMS1):c.222C>G (p.Asp74Glu) rs905373886
NM_015120.4(ALMS1):c.2272C>T (p.Pro758Ser) rs200827630
NM_015120.4(ALMS1):c.2273del (p.Pro758fs)
NM_015120.4(ALMS1):c.2282A>G (p.Gln761Arg)
NM_015120.4(ALMS1):c.2322G>A (p.Leu774=) rs28730851
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.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.2595A>G (p.Gly865=) rs1553403535
NM_015120.4(ALMS1):c.25C>T (p.Pro9Ser)
NM_015120.4(ALMS1):c.2632A>G (p.Asn878Asp) rs776351580
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.269C>T (p.Pro90Leu) rs989191437
NM_015120.4(ALMS1):c.2729C>T (p.Ser910Leu) rs746640196
NM_015120.4(ALMS1):c.2733C>T (p.His911=) rs189923349
NM_015120.4(ALMS1):c.2742G>C (p.Lys914Asn) rs373378385
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.2986A>G (p.Thr996Ala)
NM_015120.4(ALMS1):c.3005G>T (p.Gly1002Val)
NM_015120.4(ALMS1):c.3019dup (p.Arg1007fs) rs878854998
NM_015120.4(ALMS1):c.301G>T (p.Glu101Ter)
NM_015120.4(ALMS1):c.3070A>G (p.Thr1024Ala) rs1553403605
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3275C>T (p.Ala1092Val)
NM_015120.4(ALMS1):c.3281C>T (p.Pro1094Leu) rs766187468
NM_015120.4(ALMS1):c.3293A>G (p.Tyr1098Cys) rs201816596
NM_015120.4(ALMS1):c.3295T>C (p.Ser1099Pro) rs1553403651
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
NM_015120.4(ALMS1):c.3310C>G (p.Pro1104Ala) rs200257398
NM_015120.4(ALMS1):c.3313G>A (p.Gly1105Ser) rs868703237
NM_015120.4(ALMS1):c.3314G>A (p.Gly1105Asp) rs201074268
NM_015120.4(ALMS1):c.3333C>T (p.Thr1111=) rs749570443
NM_015120.4(ALMS1):c.334C>G (p.Pro112Ala) rs368354870
NM_015120.4(ALMS1):c.3382C>T (p.Pro1128Ser) rs182127619
NM_015120.4(ALMS1):c.3415A>G (p.Thr1139Ala) rs201884768
NM_015120.4(ALMS1):c.341C>T (p.Thr114Ile) rs1417754706
NM_015120.4(ALMS1):c.3467A>C (p.His1156Pro) rs553406974
NM_015120.4(ALMS1):c.357A>G (p.Gln119=) rs531782624
NM_015120.4(ALMS1):c.359A>G (p.Gln120Arg) rs371516347
NM_015120.4(ALMS1):c.362_363del (p.Ile121fs) rs1553398842
NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs) rs753301358
NM_015120.4(ALMS1):c.3692G>A (p.Gly1231Glu) rs372619046
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[12] (p.Glu28_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[13] (p.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[18] (p.Glu26_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[19] (p.Glu25_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[20] (p.Glu24_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[21] (p.Glu23_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[9] (p.Glu25_Glu29del) rs55889738
NM_015120.4(ALMS1):c.3730G>C (p.Glu1244Gln) rs372620412
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
NM_015120.4(ALMS1):c.3737C>T (p.Pro1246Leu) rs1558648928
NM_015120.4(ALMS1):c.3767A>G (p.Asp1256Gly)
NM_015120.4(ALMS1):c.3802G>A (p.Val1268Ile)
NM_015120.4(ALMS1):c.3815C>A (p.Pro1272Gln) rs372563916
NM_015120.4(ALMS1):c.3870T>G (p.Tyr1290Ter)
NM_015120.4(ALMS1):c.3884G>C (p.Ser1295Thr) rs373835067
NM_015120.4(ALMS1):c.3897A>G (p.Gln1299=) rs112034360
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.3948G>A (p.Ala1316=) rs201474138
NM_015120.4(ALMS1):c.3983C>T (p.Pro1328Leu)
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4126A>G (p.Thr1376Ala) rs760866713
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.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
NM_015120.4(ALMS1):c.4166C>T (p.Pro1389Leu) rs377354387
NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter) rs969786171
NM_015120.4(ALMS1):c.4207A>G (p.Thr1403Ala) rs199649563
NM_015120.4(ALMS1):c.4225G>A (p.Val1409Ile) rs200529564
NM_015120.4(ALMS1):c.4231G>C (p.Ala1411Pro) rs201517720
NM_015120.4(ALMS1):c.430C>T (p.Gln144Ter) rs150825781
NM_015120.4(ALMS1):c.4319A>C (p.Tyr1440Ser) rs201971114
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4344T>C (p.His1448=) rs770081169
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter) rs904289501
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.454-5T>G rs774098604
NM_015120.4(ALMS1):c.4546G>A (p.Ala1516Thr)
NM_015120.4(ALMS1):c.4568C>G (p.Ser1523Cys) rs1060500036
NM_015120.4(ALMS1):c.4608A>G (p.Gln1536=) rs144720929
NM_015120.4(ALMS1):c.4681A>G (p.Thr1561Ala) rs1558649606
NM_015120.4(ALMS1):c.474T>C (p.Cys158=) rs367648094
NM_015120.4(ALMS1):c.4761A>G (p.Pro1587=) rs778600773
NM_015120.4(ALMS1):c.4798A>G (p.Ile1600Val)
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.4902A>G (p.Leu1634=) rs1060503816
NM_015120.4(ALMS1):c.4905C>T (p.Asp1635=) rs1553403951
NM_015120.4(ALMS1):c.4965G>T (p.Lys1655Asn) rs28730853
NM_015120.4(ALMS1):c.4979C>A (p.Pro1660Gln) rs199520788
NM_015120.4(ALMS1):c.4991C>T (p.Thr1664Ile) rs188807564
NM_015120.4(ALMS1):c.5077C>T (p.Pro1693Ser)
NM_015120.4(ALMS1):c.5158A>G (p.Ile1720Val)
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5270C>G (p.Ser1757Cys) rs761486372
NM_015120.4(ALMS1):c.5285A>T (p.His1762Leu)
NM_015120.4(ALMS1):c.5326G>C (p.Asp1776His)
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.5425C>T (p.His1809Tyr)
NM_015120.4(ALMS1):c.5436G>C (p.Lys1812Asn) rs78039319
NM_015120.4(ALMS1):c.5447C>T (p.Ser1816Phe)
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.5559A>G (p.Pro1853=) rs372017680
NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) rs769440001
NM_015120.4(ALMS1):c.563dup (p.Ser190fs) rs1439541639
NM_015120.4(ALMS1):c.5717T>G (p.Phe1906Cys) rs1553404125
NM_015120.4(ALMS1):c.571C>A (p.Leu191Met)
NM_015120.4(ALMS1):c.5727G>C (p.Gln1909His) rs779739318
NM_015120.4(ALMS1):c.5735del (p.Pro1912fs)
NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) rs17009061
NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) rs370398704
NM_015120.4(ALMS1):c.5845A>G (p.Ser1949Gly) rs367728446
NM_015120.4(ALMS1):c.5906C>G (p.Ser1969Ter)
NM_015120.4(ALMS1):c.5907_5915del (p.Pro1970_Ser1972del) rs1060500042
NM_015120.4(ALMS1):c.590C>T (p.Thr197Met) rs562345472
NM_015120.4(ALMS1):c.599A>G (p.Glu200Gly) rs1553399974
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6023A>G (p.Gln2008Arg) rs1047348249
NM_015120.4(ALMS1):c.604C>G (p.Gln202Glu) rs376989302
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.60_61insTAGGAG (p.Glu21Ter)
NM_015120.4(ALMS1):c.614A>C (p.Glu205Ala) rs200054604
NM_015120.4(ALMS1):c.6167_6168AT[3] (p.Leu2058fs) rs759603306
NM_015120.4(ALMS1):c.6186G>C (p.Gln2062His)
NM_015120.4(ALMS1):c.6238G>A (p.Glu2080Lys) rs758696535
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) rs28730854
NM_015120.4(ALMS1):c.6362A>G (p.Lys2121Arg) rs745919138
NM_015120.4(ALMS1):c.6375del (p.Pro2126fs) rs1553404220
NM_015120.4(ALMS1):c.6382C>T (p.Pro2128Ser)
NM_015120.4(ALMS1):c.63G>A (p.Glu21=) rs183407241
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
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.649+2T>C
NM_015120.4(ALMS1):c.649+3A>G rs1553399994
NM_015120.4(ALMS1):c.6509C>T (p.Ser2170Leu) rs368833782
NM_015120.4(ALMS1):c.6541G>C (p.Gly2181Arg)
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.6631A>G (p.Asn2211Asp)
NM_015120.4(ALMS1):c.6640G>T (p.Asp2214Tyr) rs367656336
NM_015120.4(ALMS1):c.6710C>T (p.Pro2237Leu) rs201737248
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.6814A>G (p.Asn2272Asp) rs1558651314
NM_015120.4(ALMS1):c.6830G>A (p.Arg2277Gln) rs200979896
NM_015120.4(ALMS1):c.6834C>G (p.Cys2278Trp) rs761713440
NM_015120.4(ALMS1):c.6841C>T (p.Pro2281Ser) rs1273490920
NM_015120.4(ALMS1):c.6843T>G (p.Pro2281=) rs45580837
NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs) rs1558651349
NM_015120.4(ALMS1):c.6940A>G (p.Asn2314Asp)
NM_015120.4(ALMS1):c.6994T>C (p.Cys2332Arg) rs1060500038
NM_015120.4(ALMS1):c.7023G>A (p.Thr2341=) rs760756852
NM_015120.4(ALMS1):c.7043G>T (p.Gly2348Val) rs752336806
NM_015120.4(ALMS1):c.7096G>A (p.Glu2366Lys)
NM_015120.4(ALMS1):c.7170G>T (p.Arg2390Ser) rs1553404408
NM_015120.4(ALMS1):c.719C>T (p.Ala240Val) rs370830919
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7280G>T (p.Cys2427Phe)
NM_015120.4(ALMS1):c.7291A>C (p.Ser2431Arg)
NM_015120.4(ALMS1):c.72_73insAAG (p.Glu25_Glu26insLys) rs1006328829
NM_015120.4(ALMS1):c.7302_7303AG[1] (p.Glu2435fs) rs1246023978
NM_015120.4(ALMS1):c.7370T>C (p.Ile2457Thr) rs894421376
NM_015120.4(ALMS1):c.7379G>C (p.Ser2460Thr) rs778055498
NM_015120.4(ALMS1):c.7405A>G (p.Ser2469Gly) rs1007457582
NM_015120.4(ALMS1):c.7429G>A (p.Val2477Ile)
NM_015120.4(ALMS1):c.7496A>T (p.Glu2499Val) rs1164499906
NM_015120.4(ALMS1):c.7528C>T (p.Arg2510Trp)
NM_015120.4(ALMS1):c.7544-8C>T rs1553404629
NM_015120.4(ALMS1):c.7580G>A (p.Gly2527Glu) rs201654702
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.7673C>T (p.Ser2558Phe) rs878855001
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.7804C>T (p.Pro2602Ser) rs1553409608
NM_015120.4(ALMS1):c.7951A>C (p.Ser2651Arg)
NM_015120.4(ALMS1):c.7984G>A (p.Glu2662Lys) rs762452929
NM_015120.4(ALMS1):c.7986A>T (p.Glu2662Asp) rs1213279792
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) rs371904071
NM_015120.4(ALMS1):c.8159C>G (p.Ser2720Cys)
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8242G>T (p.Val2748Leu) rs878855002
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8275C>A (p.Gln2759Lys) rs756042345
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.8326A>G (p.Lys2776Glu)
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.8419T>G (p.Phe2807Val) rs763332859
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167
NM_015120.4(ALMS1):c.8549G>A (p.Arg2850Lys) rs200009686
NM_015120.4(ALMS1):c.861A>G (p.Ser287=) rs748158586
NM_015120.4(ALMS1):c.8647C>T (p.Leu2883Phe) rs373944325
NM_015120.4(ALMS1):c.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8726C>T (p.Pro2909Leu)
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.8766C>A (p.Cys2922Ter)
NM_015120.4(ALMS1):c.8783G>A (p.Arg2928Gln)
NM_015120.4(ALMS1):c.8814T>C (p.Tyr2938=) rs541559170
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.8885C>T (p.Pro2962Leu) rs781477502
NM_015120.4(ALMS1):c.8922G>A (p.Ala2974=) rs116854981
NM_015120.4(ALMS1):c.8923C>T (p.Pro2975Ser) rs1043429291
NM_015120.4(ALMS1):c.8986G>A (p.Val2996Met) rs1553409810
NM_015120.4(ALMS1):c.9009G>C (p.Lys3003Asn) rs753980616
NM_015120.4(ALMS1):c.9011C>T (p.Pro3004Leu) rs755044727
NM_015120.4(ALMS1):c.9019C>T (p.His3007Tyr) rs779131632
NM_015120.4(ALMS1):c.9052A>G (p.Asn3018Asp)
NM_015120.4(ALMS1):c.9112_9114CCT[1] (p.Pro3039del) rs759799299
NM_015120.4(ALMS1):c.9148A>G (p.Ile3050Val)
NM_015120.4(ALMS1):c.9194T>C (p.Leu3065Ser) rs1434010689
NM_015120.4(ALMS1):c.9266A>G (p.His3089Arg) rs376083621
NM_015120.4(ALMS1):c.9279G>A (p.Ser3093=) rs1462656920
NM_015120.4(ALMS1):c.9284C>T (p.Ser3095Leu) rs368970124
NM_015120.4(ALMS1):c.9296C>A (p.Thr3099Asn) rs1553409866
NM_015120.4(ALMS1):c.9328C>G (p.Gln3110Glu) rs1558667813
NM_015120.4(ALMS1):c.9339A>T (p.Glu3113Asp) rs1558667820
NM_015120.4(ALMS1):c.9340T>C (p.Ser3114Pro)
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_015120.4(ALMS1):c.93_95del (p.Ala36del) rs973057702
NM_015120.4(ALMS1):c.9422_9423del (p.Gln3141fs) rs1558667882
NM_015120.4(ALMS1):c.9426C>G (p.Asp3142Glu)
NM_015120.4(ALMS1):c.9433dup (p.Thr3145fs) rs878855003
NM_015120.4(ALMS1):c.9436A>T (p.Ile3146Leu) rs767987000
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.9541C>T (p.Arg3181Ter)
NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) rs369682692
NM_015120.4(ALMS1):c.9615A>C (p.Ile3205=) rs755456619
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9744A>G (p.Ser3248=) rs370844317
NM_015120.4(ALMS1):c.9772C>T (p.Arg3258Cys)
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9785-9C>T rs10199680
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9832_9835dup (p.Tyr3279fs)
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.9917A>G (p.Asn3306Ser) rs142022233

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