ClinVar Miner

List of variants in gene ALMS1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1101
Download table as spreadsheet
HGVS dbSNP
ALMS1, 19-BP INS
ALMS1, 333-BP ALU INS, EX16
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
NM_015120.4(ALMS1):c.*105A>G rs553541249
NM_015120.4(ALMS1):c.*111A>G rs200498913
NM_015120.4(ALMS1):c.*209A>G rs573978557
NM_015120.4(ALMS1):c.*267T>A rs62149804
NM_015120.4(ALMS1):c.-107G>A rs886056292
NM_015120.4(ALMS1):c.-12C>G rs1553396082
NM_015120.4(ALMS1):c.-16A>G rs746944958
NM_015120.4(ALMS1):c.-19C>T rs1553396078
NM_015120.4(ALMS1):c.-1C>T rs756956183
NM_015120.4(ALMS1):c.-20G>A rs935547269
NM_015120.4(ALMS1):c.-27_-25delCTC rs746980000
NM_015120.4(ALMS1):c.-39delC rs764473588
NM_015120.4(ALMS1):c.-48C>T rs543687863
NM_015120.4(ALMS1):c.-53C>T rs868088238
NM_015120.4(ALMS1):c.-64C>T rs886056293
NM_015120.4(ALMS1):c.-7C>T rs1296403299
NM_015120.4(ALMS1):c.-8dup rs1553396085
NM_015120.4(ALMS1):c.-9G>A rs1553396083
NM_015120.4(ALMS1):c.10041C>T (p.Ser3347=) rs375436336
NM_015120.4(ALMS1):c.10046del (p.Pro3349fs) rs1553416233
NM_015120.4(ALMS1):c.10078+2dup rs755740074
NM_015120.4(ALMS1):c.10081+10T>C rs752454047
NM_015120.4(ALMS1):c.10082-10G>A rs778996015
NM_015120.4(ALMS1):c.10082-11C>A rs368250605
NM_015120.4(ALMS1):c.10082-19A>G rs935864365
NM_015120.4(ALMS1):c.10082-1G>C rs1361885101
NM_015120.4(ALMS1):c.10082-4C>G rs1446726516
NM_015120.4(ALMS1):c.10084G>T (p.Ala3362Ser) rs770904502
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.10111G>A (p.Asp3371Asn) rs751123703
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
NM_015120.4(ALMS1):c.10143G>C (p.Glu3381Asp) rs1045473444
NM_015120.4(ALMS1):c.10151G>A (p.Ser3384Asn) rs1553416873
NM_015120.4(ALMS1):c.10180G>A (p.Ala3394Thr) rs145678202
NM_015120.4(ALMS1):c.10180G>C (p.Ala3394Pro) rs145678202
NM_015120.4(ALMS1):c.10180G>T (p.Ala3394Ser)
NM_015120.4(ALMS1):c.10183A>G (p.Lys3395Glu) rs886056316
NM_015120.4(ALMS1):c.10212T>A (p.Thr3404=) rs34617744
NM_015120.4(ALMS1):c.10216+11T>C rs1553416883
NM_015120.4(ALMS1):c.10216+17G>C rs1553416885
NM_015120.4(ALMS1):c.10216+1G>A rs374681570
NM_015120.4(ALMS1):c.10216+3A>G rs1553416881
NM_015120.4(ALMS1):c.10217-11C>G rs1365430683
NM_015120.4(ALMS1):c.10217-19G>A rs763103896
NM_015120.4(ALMS1):c.10217-5C>T rs751591632
NM_015120.4(ALMS1):c.10224_10226TGC[6] (p.Ala3413dup) rs760731440
NM_015120.4(ALMS1):c.10227T>C (p.Ala3409=) rs1464934308
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.10290_10291del (p.Lys3431fs) rs1553417044
NM_015120.4(ALMS1):c.10300A>G (p.Thr3434Ala) rs750493624
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10307A>G (p.Lys3436Arg) rs187607395
NM_015120.4(ALMS1):c.10319A>G (p.His3440Arg) rs139425340
NM_015120.4(ALMS1):c.10321A>G (p.Arg3441Gly) rs746702722
NM_015120.4(ALMS1):c.10336C>T (p.Pro3446Ser) rs267599448
NM_015120.4(ALMS1):c.10337C>T (p.Pro3446Leu) rs1170663588
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.10371A>G (p.Leu3457=) rs929142880
NM_015120.4(ALMS1):c.10377C>G (p.Ile3459Met) rs767799669
NM_015120.4(ALMS1):c.10384+2dup rs1255846889
NM_015120.4(ALMS1):c.10387+1G>A rs766366221
NM_015120.4(ALMS1):c.10387+3A>G rs752727300
NM_015120.4(ALMS1):c.10387+5T>C rs758235228
NM_015120.4(ALMS1):c.10388-7T>G rs1298945759
NM_015120.4(ALMS1):c.10388-9C>T rs568809052
NM_015120.4(ALMS1):c.10392C>T (p.Ser3464=) rs760299487
NM_015120.4(ALMS1):c.10430T>C (p.Val3477Ala) rs750128969
NM_015120.4(ALMS1):c.1044A>G (p.Ser348=) rs1553400737
NM_015120.4(ALMS1):c.10461_10469dup (p.Pro3488_His3490dup) rs1553418413
NM_015120.4(ALMS1):c.10464C>T (p.Pro3488=) rs202036843
NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) rs28730858
NM_015120.4(ALMS1):c.10470C>T (p.His3490=) rs371631738
NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter) rs772624348
NM_015120.4(ALMS1):c.10484A>G (p.Gln3495Arg) rs1553418430
NM_015120.4(ALMS1):c.10536G>T (p.Trp3512Cys)
NM_015120.4(ALMS1):c.10538_10539ins19 (p.?) rs1220975714
NM_015120.4(ALMS1):c.10547_10548insCA (p.Gln3517fs) rs1553418449
NM_015120.4(ALMS1):c.10549C>T (p.Gln3517Ter) rs375019820
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10574_10575ins10 (p.?) rs1553418457
NM_015120.4(ALMS1):c.10628A>G (p.Tyr3543Cys) rs761771973
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10633A>G (p.Arg3545Gly) rs773075850
NM_015120.4(ALMS1):c.10638A>G (p.Ile3546Met) rs760321819
NM_015120.4(ALMS1):c.1064C>T (p.Thr355Ile) rs370726988
NM_015120.4(ALMS1):c.10654A>G (p.Asn3552Asp) rs200992340
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.10734T>C (p.Ile3578=) rs1553418487
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.10788_10789TG[1] (p.Val3597fs) rs1218465638
NM_015120.4(ALMS1):c.10791G>C (p.Val3597=) rs45445398
NM_015120.4(ALMS1):c.10796_10799TGAA[1] (p.Glu3601fs) rs1553418500
NM_015120.4(ALMS1):c.10816dup (p.Tyr3606fs) rs1553418505
NM_015120.4(ALMS1):c.10829A>G (p.Gln3610Arg) rs886056317
NM_015120.4(ALMS1):c.10829_10830AG[1] (p.Arg3611fs) rs755616266
NM_015120.4(ALMS1):c.10835A>G (p.Gln3612Arg) rs45452795
NM_015120.4(ALMS1):c.10839dup (p.Arg3614fs) rs1553418512
NM_015120.4(ALMS1):c.10847del (p.Pro3616fs) rs1553418513
NM_015120.4(ALMS1):c.10863G>A (p.Arg3621=) rs373682259
NM_015120.4(ALMS1):c.10865A>G (p.Lys3622Arg) rs1288339942
NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) rs377601961
NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) rs1473611414
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.10945G>T (p.Glu3649Ter) rs397514576
NM_015120.4(ALMS1):c.10950T>C (p.Ser3650=) rs373024720
NM_015120.4(ALMS1):c.10976G>A (p.Arg3659Gln) rs781344338
NM_015120.4(ALMS1):c.10988A>G (p.Glu3663Gly) rs377418428
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) rs193919339
NM_015120.4(ALMS1):c.1099C>G (p.Gln367Glu)
NM_015120.4(ALMS1):c.10G>T (p.Glu4Ter) rs1553396092
NM_015120.4(ALMS1):c.11009A>G (p.Gln3670Arg)
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11035C>T (p.Arg3679Trp) rs766771102
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.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.11108G>A (p.Arg3703Gln) rs188864796
NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) rs398122992
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.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11207C>T (p.Ser3736Leu) rs367877017
NM_015120.4(ALMS1):c.11213G>A (p.Cys3738Tyr) rs1553418562
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.11287G>A (p.Glu3763Lys) rs1243181452
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.11385del (p.Phe3795fs) rs768759374
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.11417G>A (p.Arg3806Gln) rs201646938
NM_015120.4(ALMS1):c.11418_11422AATTA[1] (p.Lys3808fs) rs1553418609
NM_015120.4(ALMS1):c.11443A>G (p.Asn3815Asp) rs369256893
NM_015120.4(ALMS1):c.11444A>C (p.Asn3815Thr) rs763907736
NM_015120.4(ALMS1):c.11450_11451AG[1] (p.Arg3818fs)
NM_015120.4(ALMS1):c.11460C>T (p.Tyr3820=) rs373397289
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11480A>G (p.His3827Arg) rs371105298
NM_015120.4(ALMS1):c.11484C>T (p.Ser3828=)
NM_015120.4(ALMS1):c.11514A>G (p.Leu3838=) rs374164508
NM_015120.4(ALMS1):c.11519C>T (p.Thr3840Ile) rs376255515
NM_015120.4(ALMS1):c.11526G>A (p.Glu3842=) rs35760114
NM_015120.4(ALMS1):c.11550+12C>A rs755559102
NM_015120.4(ALMS1):c.11550+12C>T rs755559102
NM_015120.4(ALMS1):c.11550+13A>G rs753246208
NM_015120.4(ALMS1):c.11550+16T>C rs373935106
NM_015120.4(ALMS1):c.11550+1G>A rs1553418638
NM_015120.4(ALMS1):c.11550+4C>T rs753353269
NM_015120.4(ALMS1):c.11550+5A>C rs1181494101
NM_015120.4(ALMS1):c.11550+7G>C rs1553418641
NM_015120.4(ALMS1):c.11551-19A>T rs760271173
NM_015120.4(ALMS1):c.11551-3T>C rs555547573
NM_015120.4(ALMS1):c.11562T>A (p.His3854Gln) rs186141821
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.11608A>T (p.Ser3870Cys) rs886056318
NM_015120.4(ALMS1):c.11614A>T (p.Asn3872Tyr) rs368957150
NM_015120.4(ALMS1):c.11616_11617CT[1] (p.Ser3873fs) rs1476205467
NM_015120.4(ALMS1):c.11619dup (p.Thr3874fs) rs1553421488
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.11649_11651dup (p.Leu3884dup) rs1468861836
NM_015120.4(ALMS1):c.11651_11652insGTTA (p.Asn3885fs) rs760264695
NM_015120.4(ALMS1):c.11670del (p.Gly3891fs) rs1553421496
NM_015120.4(ALMS1):c.11671+12A>G rs1553421500
NM_015120.4(ALMS1):c.11671+17A>G rs201109126
NM_015120.4(ALMS1):c.11671+6T>G rs1553421499
NM_015120.4(ALMS1):c.11672-11delC rs1261279730
NM_015120.4(ALMS1):c.11672-12C>T rs774970704
NM_015120.4(ALMS1):c.11672-14A>G rs768036112
NM_015120.4(ALMS1):c.11672-17A>G rs762591261
NM_015120.4(ALMS1):c.11672-1G>A rs750737346
NM_015120.4(ALMS1):c.11672-3C>T rs767901840
NM_015120.4(ALMS1):c.11672-7C>A rs548573570
NM_015120.4(ALMS1):c.11692G>A (p.Gly3898Ser)
NM_015120.4(ALMS1):c.11703del (p.Lys3901fs) rs1553421626
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.11717_11720del (p.Val3906fs) rs932538480
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.11745C>T (p.Ser3915=) rs374909171
NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) rs147831309
NM_015120.4(ALMS1):c.11758T>C (p.Leu3920=) rs750372739
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.11780_11782CTT[1] (p.Ser3928del) rs1553421645
NM_015120.4(ALMS1):c.11781T>C (p.Thr3927=) rs368160921
NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter) rs1318520999
NM_015120.4(ALMS1):c.11801G>A (p.Arg3934His) rs45576434
NM_015120.4(ALMS1):c.11812dup (p.Met3938fs) rs757722767
NM_015120.4(ALMS1):c.11824G>A (p.Gly3942Ser) rs61741524
NM_015120.4(ALMS1):c.1182A>T (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.11857A>G (p.Lys3953Glu)
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+12A>G rs193922691
NM_015120.4(ALMS1):c.11875+2T>A rs1553421657
NM_015120.4(ALMS1):c.11875+7T>A rs763235048
NM_015120.4(ALMS1):c.11875+9C>G rs768886966
NM_015120.4(ALMS1):c.11876-11G>A rs571456553
NM_015120.4(ALMS1):c.11876-11G>T rs571456553
NM_015120.4(ALMS1):c.11876-4G>A rs1553421697
NM_015120.4(ALMS1):c.11876-6C>T rs749542120
NM_015120.4(ALMS1):c.11876-7C>T rs1553421696
NM_015120.4(ALMS1):c.11890G>T (p.Val3964Phe) rs886056319
NM_015120.4(ALMS1):c.11896G>T (p.Val3966Leu) rs199683521
NM_015120.4(ALMS1):c.11900A>T (p.Glu3967Val) rs377523400
NM_015120.4(ALMS1):c.1191G>A (p.Gln397=) rs368655814
NM_015120.4(ALMS1):c.11932G>A (p.Val3978Met) rs185423930
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val)
NM_015120.4(ALMS1):c.1195dup (p.Trp399fs) rs1553400778
NM_015120.4(ALMS1):c.11974A>G (p.Ile3992Val) rs368146962
NM_015120.4(ALMS1):c.11997G>C (p.Arg3999Ser) rs28730862
NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) rs761292021
NM_015120.4(ALMS1):c.12001C>T (p.Pro4001Ser) rs767061718
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.12008G>A (p.Arg4003Gln) rs375923289
NM_015120.4(ALMS1):c.12019T>C (p.Cys4007Arg) rs201959964
NM_015120.4(ALMS1):c.1202A>G (p.Gln401Arg) rs372747251
NM_015120.4(ALMS1):c.12039C>A (p.Asp4013Glu) rs370981817
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.12078del (p.Arg4027fs) rs1553421739
NM_015120.4(ALMS1):c.12086_12089del (p.Leu4029fs) rs1553421741
NM_015120.4(ALMS1):c.12089T>C (p.Leu4030Pro)
NM_015120.4(ALMS1):c.12093_12104del (p.Pro4032_Arg4035del) rs1245181381
NM_015120.4(ALMS1):c.12107_12108del (p.Ala4036fs) rs1553421752
NM_015120.4(ALMS1):c.12117+12T>C rs377393930
NM_015120.4(ALMS1):c.12117+14G>T rs1057524070
NM_015120.4(ALMS1):c.12117+19A>G rs760374917
NM_015120.4(ALMS1):c.12117+19A>T rs760374917
NM_015120.4(ALMS1):c.12117+1G>T rs376719320
NM_015120.4(ALMS1):c.12117+3_12117+12del10 rs1348254028
NM_015120.4(ALMS1):c.12117+4C>T rs373191489
NM_015120.4(ALMS1):c.12118-8T>C rs78455676
NM_015120.4(ALMS1):c.12120A>C (p.Glu4040Asp)
NM_015120.4(ALMS1):c.12122C>T (p.Ser4041Leu)
NM_015120.4(ALMS1):c.12139C>T (p.Pro4047Ser) rs371269253
NM_015120.4(ALMS1):c.12150C>T (p.Ile4050=) rs374328093
NM_015120.4(ALMS1):c.12153C>A (p.Ser4051=) rs1553421877
NM_015120.4(ALMS1):c.12154C>T (p.Arg4052Cys)
NM_015120.4(ALMS1):c.12167G>A (p.Arg4056Gln) rs752714698
NM_015120.4(ALMS1):c.12175C>T (p.Arg4059Cys) rs1270753573
NM_015120.4(ALMS1):c.12176G>A (p.Arg4059His) rs61743400
NM_015120.4(ALMS1):c.12177C>T (p.Arg4059=) rs377661858
NM_015120.4(ALMS1):c.12178_12180delinsTT (p.Lys4061fs) rs1553421886
NM_015120.4(ALMS1):c.12201G>A (p.Arg4067=) rs199603690
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.12229C>T (p.Arg4077Trp) rs368113488
NM_015120.4(ALMS1):c.12230G>A (p.Arg4077Gln) rs200814417
NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) rs375314465
NM_015120.4(ALMS1):c.12287C>T (p.Pro4096Leu) rs750502331
NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12301+14G>A rs755931726
NM_015120.4(ALMS1):c.12301+19C>T rs1553421935
NM_015120.4(ALMS1):c.12301+7C>T rs1252100215
NM_015120.4(ALMS1):c.12302-14C>T rs1352077204
NM_015120.4(ALMS1):c.12302-15T>C rs1553422033
NM_015120.4(ALMS1):c.12302-15_12302-12delTCTT rs775452962
NM_015120.4(ALMS1):c.12302-1G>A rs1313101326
NM_015120.4(ALMS1):c.12302-3T>C rs1553422034
NM_015120.4(ALMS1):c.12302-6G>A rs771317399
NM_015120.4(ALMS1):c.12305_12308del (p.Phe4102fs) rs1553422035
NM_015120.4(ALMS1):c.1230_1231AT[1] (p.Tyr411fs) rs764503373
NM_015120.4(ALMS1):c.12311_12313del (p.Ala4104_Ile4105delinsVal) rs1553422036
NM_015120.4(ALMS1):c.12333C>G (p.Ile4111Met) rs375524122
NM_015120.4(ALMS1):c.12353A>G (p.Gln4118Arg) rs200038446
NM_015120.4(ALMS1):c.12365+16C>G rs1553422061
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.12365G>A (p.Arg4122Gln) rs376602261
NM_015120.4(ALMS1):c.12366-12G>A rs749504196
NM_015120.4(ALMS1):c.12366-14G>A rs377374398
NM_015120.4(ALMS1):c.12366-6T>G rs1553422641
NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) rs371587051
NM_015120.4(ALMS1):c.12397_12400dup (p.Arg4134fs) rs776401197
NM_015120.4(ALMS1):c.12399_12400GA[1] (p.Arg4134fs) rs761223068
NM_015120.4(ALMS1):c.1240+14T>C rs1482335275
NM_015120.4(ALMS1):c.1240+2T>C rs916056435
NM_015120.4(ALMS1):c.1240+8C>A rs771449454
NM_015120.4(ALMS1):c.1240+9C>G rs201471551
NM_015120.4(ALMS1):c.1240+9C>T rs201471551
NM_015120.4(ALMS1):c.1241-11C>G rs1553400951
NM_015120.4(ALMS1):c.1241-11C>T rs1553400951
NM_015120.4(ALMS1):c.1241-20A>G rs771811655
NM_015120.4(ALMS1):c.1241-9A>G rs372652836
NM_015120.4(ALMS1):c.12439C>T (p.Arg4147Trp) rs763519566
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.12445C>T (p.Arg4149Ter) rs192496253
NM_015120.4(ALMS1):c.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12464del (p.Lys4155fs) rs1553422659
NM_015120.4(ALMS1):c.12465+10T>C rs748315200
NM_015120.4(ALMS1):c.12465+12C>T rs1553422680
NM_015120.4(ALMS1):c.12465+12_12465+18del7 rs1374364094
NM_015120.4(ALMS1):c.12465+19T>C rs1309452497
NM_015120.4(ALMS1):c.12465+1delG rs750907119
NM_015120.4(ALMS1):c.12465+3C>T rs1553422676
NM_015120.4(ALMS1):c.12465+5G>A rs1553422678
NM_015120.4(ALMS1):c.12466-10T>C rs754172101
NM_015120.4(ALMS1):c.12466-11_12466-7del5 rs1553422758
NM_015120.4(ALMS1):c.12466-14C>G rs766656843
NM_015120.4(ALMS1):c.12466-9C>G rs1553422761
NM_015120.4(ALMS1):c.12499C>T (p.Pro4167Ser) rs267599450
NM_015120.4(ALMS1):c.1250del (p.Gln417fs) rs1553400956
NM_015120.4(ALMS1):c.1267G>A (p.Asp423Asn) rs886056297
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1329A>G (p.Glu443=) rs886056298
NM_015120.4(ALMS1):c.1341+11A>G rs1553400967
NM_015120.4(ALMS1):c.1341+18G>A rs369695595
NM_015120.4(ALMS1):c.1341+20T>A rs1466354765
NM_015120.4(ALMS1):c.1342-12G>T rs1260375872
NM_015120.4(ALMS1):c.1342-20C>T rs1553401589
NM_015120.4(ALMS1):c.1342-3A>C rs572922738
NM_015120.4(ALMS1):c.1342-5A>G rs373469023
NM_015120.4(ALMS1):c.1342-5A>T rs373469023
NM_015120.4(ALMS1):c.1342-6C>T rs1553401597
NM_015120.4(ALMS1):c.1342-8C>T rs1553401596
NM_015120.4(ALMS1):c.1342C>G (p.Pro448Ala) rs377283762
NM_015120.4(ALMS1):c.1343C>G (p.Pro448Arg) rs886056299
NM_015120.4(ALMS1):c.1403C>T (p.Thr468Ile) rs201990757
NM_015120.4(ALMS1):c.140_142del (p.Val47del) rs1553396198
NM_015120.4(ALMS1):c.140_148dup (p.44_46VEE[3]) rs1286794312
NM_015120.4(ALMS1):c.1423C>A (p.His475Asn) rs200454461
NM_015120.4(ALMS1):c.1429_1434del (p.Lys477_Ala478del) rs1553401631
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1435+12A>G rs1553401640
NM_015120.4(ALMS1):c.1435+14G>A rs1204922039
NM_015120.4(ALMS1):c.1435+15G>A rs376610564
NM_015120.4(ALMS1):c.1435+16A>G rs1553401642
NM_015120.4(ALMS1):c.1435+1G>T rs1553401634
NM_015120.4(ALMS1):c.1435+4C>T rs200933935
NM_015120.4(ALMS1):c.1435+5G>A rs755613962
NM_015120.4(ALMS1):c.1435+7A>G rs1468328132
NM_015120.4(ALMS1):c.1436-14C>A rs1553403232
NM_015120.4(ALMS1):c.1436-3T>C rs367710998
NM_015120.4(ALMS1):c.1440C>T (p.Asp480=) rs372610345
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.1560del (p.Gln520fs) rs1553403262
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.1611_1612TC[1] (p.Leu538fs) rs1553403282
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1642C>G (p.Leu548Val)
NM_015120.4(ALMS1):c.164T>A (p.Leu55Ter) rs755760721
NM_015120.4(ALMS1):c.1698T>C (p.Thr566=) rs368992526
NM_015120.4(ALMS1):c.1707A>C (p.Pro569=) rs886056300
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1720A>G (p.Ser574Gly) rs143478466
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1761G>A (p.Gln587=) rs377037998
NM_015120.4(ALMS1):c.1764G>C (p.Gln588His) rs1553403313
NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) rs398122991
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.1857C>T (p.Thr619=) rs1327400351
NM_015120.4(ALMS1):c.1858T>C (p.Ser620Pro)
NM_015120.4(ALMS1):c.1868A>G (p.Tyr623Cys) rs193922693
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.1900C>T (p.Gln634Ter) rs398122995
NM_015120.4(ALMS1):c.1902A>G (p.Gln634=) rs116033693
NM_015120.4(ALMS1):c.191_192delinsC (p.Gln64fs) rs1553396238
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.1980G>A (p.Thr660=) rs201316401
NM_015120.4(ALMS1):c.1995A>G (p.Val665=) rs894774935
NM_015120.4(ALMS1):c.1_9del (p.Met1_Pro3del) rs1553396088
NM_015120.4(ALMS1):c.2002A>G (p.Thr668Ala) rs28730850
NM_015120.4(ALMS1):c.2025C>T (p.Asp675=) rs374151754
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.207_215del (p.Ile69_Glu72delinsMet) rs1553396244
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.20del (p.Pro7fs) rs1340135231
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.2119A>G (p.Thr707Ala) rs886056301
NM_015120.4(ALMS1):c.2124G>T (p.Gly708=) rs878854997
NM_015120.4(ALMS1):c.212_220ACGAGGAGG[1] (p.71_73DEE[1]) rs772848105
NM_015120.4(ALMS1):c.212_220ACGAGGAGG[3] (p.71_73DEE[3]) rs772848105
NM_015120.4(ALMS1):c.2131A>G (p.Thr711Ala) rs367641723
NM_015120.4(ALMS1):c.2133_2137del (p.Val712fs) rs1553403401
NM_015120.4(ALMS1):c.2137C>G (p.Leu713Val) rs371524359
NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) rs387906313
NM_015120.4(ALMS1):c.2140T>C (p.Ser714Pro) rs1248095655
NM_015120.4(ALMS1):c.2141C>G (p.Ser714Cys) rs771496254
NM_015120.4(ALMS1):c.2155C>T (p.His719Tyr) rs199572177
NM_015120.4(ALMS1):c.2158A>G (p.Arg720Gly) rs1446915143
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2182_2184CAA[1] (p.Gln729del) rs1553403420
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.2224dup (p.Thr742fs) rs769291842
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.2296T>C (p.Ser766Pro) rs373936479
NM_015120.4(ALMS1):c.2296_2299del (p.Ser766fs) rs1457500348
NM_015120.4(ALMS1):c.2299C>A (p.Gln767Lys) rs377000488
NM_015120.4(ALMS1):c.2312C>T (p.Pro771Leu) rs187132771
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.2377G>C (p.Ala793Pro) rs1181372708
NM_015120.4(ALMS1):c.237C>G (p.Ala79=) rs368947491
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.2423C>G (p.Pro808Arg) rs372717861
NM_015120.4(ALMS1):c.2437T>G (p.Ser813Ala) rs376991574
NM_015120.4(ALMS1):c.2446G>C (p.Glu816Gln) rs370978261
NM_015120.4(ALMS1):c.2475C>G (p.Ala825=) rs368270850
NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) rs370830603
NM_015120.4(ALMS1):c.2497G>A (p.Glu833Lys) rs373979607
NM_015120.4(ALMS1):c.2524T>C (p.Ser842Pro) rs949198387
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.2683G>T (p.Gly895Cys) rs374262388
NM_015120.4(ALMS1):c.2689C>G (p.Gln897Glu) rs376834704
NM_015120.4(ALMS1):c.269C>T (p.Pro90Leu) rs989191437
NM_015120.4(ALMS1):c.2727C>T (p.Tyr909=) rs573325092
NM_015120.4(ALMS1):c.2729C>T (p.Ser910Leu) rs746640196
NM_015120.4(ALMS1):c.2729_2730CA[1] (p.His911fs) rs1558648189
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.2746A>G (p.Ile916Val) rs200704524
NM_015120.4(ALMS1):c.2755dup (p.Ser919fs) rs1230351650
NM_015120.4(ALMS1):c.2756C>G (p.Ser919Cys) rs369228801
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.2793dup (p.Ala932fs) rs1553403560
NM_015120.4(ALMS1):c.2820A>G (p.Val940=) rs376517753
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.2851G>T (p.Val951Leu) rs370733145
NM_015120.4(ALMS1):c.2852T>C (p.Val951Ala) rs374139959
NM_015120.4(ALMS1):c.286C>T (p.Gln96Ter) rs750326619
NM_015120.4(ALMS1):c.287dup (p.His97fs) rs1553396293
NM_015120.4(ALMS1):c.2883A>G (p.Lys961=) rs1238528749
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.28G>A (p.Gly10Ser) rs1045405319
NM_015120.4(ALMS1):c.2925A>T (p.Leu975=) rs199769789
NM_015120.4(ALMS1):c.2928T>C (p.Pro976=) rs751486678
NM_015120.4(ALMS1):c.2986A>G (p.Thr996Ala)
NM_015120.4(ALMS1):c.2993C>T (p.Thr998Ile) rs1240072348
NM_015120.4(ALMS1):c.299C>A (p.Ser100Ter) rs1553396296
NM_015120.4(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_015120.4(ALMS1):c.3005G>T (p.Gly1002Val)
NM_015120.4(ALMS1):c.3016C>T (p.His1006Tyr) rs1039388814
NM_015120.4(ALMS1):c.3019dup (p.Arg1007fs) rs878854998
NM_015120.4(ALMS1):c.301G>T (p.Glu101Ter)
NM_015120.4(ALMS1):c.3041A>G (p.Tyr1014Cys) rs371893544
NM_015120.4(ALMS1):c.3044_3045delinsT (p.Gln1015fs) rs1553403598
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.3099C>A (p.Gly1033=) rs368659119
NM_015120.4(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_015120.4(ALMS1):c.3120G>T (p.Lys1040Asn) rs748646844
NM_015120.4(ALMS1):c.3123T>A (p.Thr1041=) rs372764773
NM_015120.4(ALMS1):c.3130C>T (p.Pro1044Ser) rs376987487
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.3258G>C (p.Gln1086His) rs181507134
NM_015120.4(ALMS1):c.327+10G>C rs778690416
NM_015120.4(ALMS1):c.327+12C>T rs1553396311
NM_015120.4(ALMS1):c.327+14G>A rs1553396313
NM_015120.4(ALMS1):c.327+16G>C rs1276086207
NM_015120.4(ALMS1):c.327+16G>T rs1276086207
NM_015120.4(ALMS1):c.327+18G>A rs1553396316
NM_015120.4(ALMS1):c.327+4A>G rs1553396304
NM_015120.4(ALMS1):c.327+7C>G rs1230102179
NM_015120.4(ALMS1):c.3271C>G (p.Pro1091Ala) rs376232524
NM_015120.4(ALMS1):c.3275C>T (p.Ala1092Val)
NM_015120.4(ALMS1):c.328-15_328-13delGCT rs1553398832
NM_015120.4(ALMS1):c.328-1G>A rs764337753
NM_015120.4(ALMS1):c.328-6T>C rs760582213
NM_015120.4(ALMS1):c.328-8A>C rs200740825
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.32dup (p.Leu12fs) rs1553396098
NM_015120.4(ALMS1):c.3300_3301del (p.Lys1103fs) rs1553403653
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.3327A>G (p.Gln1109=) rs780391682
NM_015120.4(ALMS1):c.332T>C (p.Val111Ala) rs1193275022
NM_015120.4(ALMS1):c.3333C>T (p.Thr1111=) rs749570443
NM_015120.4(ALMS1):c.3340del (p.Glu1114fs) rs1553403656
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.3398A>G (p.Gln1133Arg) rs202114540
NM_015120.4(ALMS1):c.3409A>G (p.Thr1137Ala) rs886056302
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.3475G>A (p.Ala1159Thr) rs376302473
NM_015120.4(ALMS1):c.3481C>T (p.Pro1161Ser) rs1164554577
NM_015120.4(ALMS1):c.3492_3501del (p.His1164fs) rs1553403685
NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) rs772287164
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015120.4(ALMS1):c.357A>G (p.Gln119=) rs531782624
NM_015120.4(ALMS1):c.3581C>T (p.Ser1194Leu) rs200636395
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
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_364ins15 (p.?) rs1553398843
NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs) rs753301358
NM_015120.4(ALMS1):c.3690_3691del (p.Gly1231fs) rs1296683633
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.3703C>T (p.Pro1235Ser) rs777259139
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.3784G>T (p.Glu1262Ter) rs1085307054
NM_015120.4(ALMS1):c.378_380TAG[1] (p.Ser127del) rs760942576
NM_015120.4(ALMS1):c.3802G>A (p.Val1268Ile)
NM_015120.4(ALMS1):c.3815C>A (p.Pro1272Gln) rs372563916
NM_015120.4(ALMS1):c.3818_3820del (p.Val1273del) rs954466797
NM_015120.4(ALMS1):c.3828A>G (p.Thr1276=) rs1553403752
NM_015120.4(ALMS1):c.3831T>C (p.Thr1277=) rs1553403755
NM_015120.4(ALMS1):c.3841G>A (p.Ala1281Thr) rs767729719
NM_015120.4(ALMS1):c.3870T>G (p.Tyr1290Ter)
NM_015120.4(ALMS1):c.3872_3873GA[2] (p.Lys1293fs) rs1553403762
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.3910_3912AGT[1] (p.Ser1305del) rs775132874
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.4048C>T (p.Pro1350Ser) rs1553403796
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.4153C>T (p.His1385Tyr) rs1228297685
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.4184A>G (p.Gln1395Arg) rs368955191
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.4234G>A (p.Val1412Ile) rs1553403843
NM_015120.4(ALMS1):c.4241G>C (p.Gly1414Ala) rs886038612
NM_015120.4(ALMS1):c.4252C>T (p.Arg1418Trp) rs199615803
NM_015120.4(ALMS1):c.4252del (p.Arg1418fs) rs1553403851
NM_015120.4(ALMS1):c.4253G>A (p.Arg1418Gln) rs771362238
NM_015120.4(ALMS1):c.4270A>T (p.Thr1424Ser) rs746145270
NM_015120.4(ALMS1):c.4292_4293CA[2] (p.His1432fs) rs398122993
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.4327G>T (p.Val1443Phe) rs375842278
NM_015120.4(ALMS1):c.4332G>T (p.Leu1444Phe) rs192499639
NM_015120.4(ALMS1):c.4334del (p.Pro1445fs) rs1553403864
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.4350dup (p.Glu1451Ter) rs778728424
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.4408C>A (p.Pro1470Thr) rs373638043
NM_015120.4(ALMS1):c.4428del (p.Ser1477fs) rs1553403882
NM_015120.4(ALMS1):c.4451T>C (p.Ile1484Thr) rs370271775
NM_015120.4(ALMS1):c.4467G>A (p.Gln1489=) rs770845249
NM_015120.4(ALMS1):c.4486C>G (p.Leu1496Val) rs373213201
NM_015120.4(ALMS1):c.453+11T>C rs763724672
NM_015120.4(ALMS1):c.453+11T>G rs763724672
NM_015120.4(ALMS1):c.453+12G>A rs1553398856
NM_015120.4(ALMS1):c.453+19G>A rs1553398858
NM_015120.4(ALMS1):c.453+22_453+25delAACT rs764559198
NM_015120.4(ALMS1):c.453+24_453+40del17 rs1553398860
NM_015120.4(ALMS1):c.453+3A>G rs1371008925
NM_015120.4(ALMS1):c.453+7C>A rs775200355
NM_015120.4(ALMS1):c.454-12A>G rs1274254541
NM_015120.4(ALMS1):c.454-16T>C rs1553399953
NM_015120.4(ALMS1):c.454-19T>C rs768590349
NM_015120.4(ALMS1):c.454-20T>C rs762592063
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.4619T>C (p.Leu1540Pro) rs368273962
NM_015120.4(ALMS1):c.4629A>C (p.Gln1543His) rs201603580
NM_015120.4(ALMS1):c.4648dup (p.Arg1550fs) rs1553403917
NM_015120.4(ALMS1):c.4681A>G (p.Thr1561Ala) rs1558649606
NM_015120.4(ALMS1):c.468G>C (p.Trp156Cys) rs1414087888
NM_015120.4(ALMS1):c.46_47ins12 (p.?) rs1553396123
NM_015120.4(ALMS1):c.46_47insGGG (p.Glu16_Glu17insGly) rs778948871
NM_015120.4(ALMS1):c.4733C>A (p.Pro1578Gln) rs148568833
NM_015120.4(ALMS1):c.4746C>G (p.Tyr1582Ter)
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.4830C>T (p.Asp1610=) rs371708421
NM_015120.4(ALMS1):c.4846T>A (p.Leu1616Ile) rs375736124
NM_015120.4(ALMS1):c.4860A>G (p.Ala1620=) rs367772965
NM_015120.4(ALMS1):c.4875C>T (p.Pro1625=) rs372692493
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.488T>C (p.Met163Thr) rs371903967
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.4913_4916TAAA[1] (p.Asn1639fs) rs779366889
NM_015120.4(ALMS1):c.4946C>G (p.Pro1649Arg) rs372540975
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.5013_5035del (p.Lys1671fs) rs1553403989
NM_015120.4(ALMS1):c.5038C>G (p.Leu1680Val) rs760829019
NM_015120.4(ALMS1):c.5077C>T (p.Pro1693Ser)
NM_015120.4(ALMS1):c.5098G>A (p.Ala1700Thr) rs1553404004
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5146A>T (p.Arg1716Ter) rs773513360
NM_015120.4(ALMS1):c.5158A>G (p.Ile1720Val)
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5177C>A (p.Ala1726Asp) rs764135516
NM_015120.4(ALMS1):c.5179C>T (p.Leu1727=) rs373864798
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5197A>T (p.Thr1733Ser) rs370735089
NM_015120.4(ALMS1):c.5199_5200del (p.Gln1734fs) rs1553404028
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5201_5203AAG[1] (p.Glu1735del) rs1553404031
NM_015120.4(ALMS1):c.5202A>G (p.Gln1734=) rs374143515
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.5350C>T (p.Leu1784=) rs562434013
NM_015120.4(ALMS1):c.5362A>G (p.Asn1788Asp) rs45608038
NM_015120.4(ALMS1):c.5371G>A (p.Gly1791Arg) rs1060499580
NM_015120.4(ALMS1):c.5377_5378delinsAT (p.Ala1793Ile) rs1131691296
NM_015120.4(ALMS1):c.539C>T (p.Thr180Met) rs768531502
NM_015120.4(ALMS1):c.5418del (p.Tyr1807fs) rs1553404066
NM_015120.4(ALMS1):c.5420A>G (p.Tyr1807Cys) rs374046216
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.5460G>A (p.Glu1820=) rs886038613
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5465del (p.Pro1822fs) rs770264966
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.5487G>T (p.Leu1829Phe) rs376996058
NM_015120.4(ALMS1):c.54G>A (p.Glu18=) rs1553396127
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015120.4(ALMS1):c.5535C>T (p.Asn1845=) rs369656698
NM_015120.4(ALMS1):c.5559A>G (p.Pro1853=) rs372017680
NM_015120.4(ALMS1):c.5562G>A (p.Gln1854=) rs886056303
NM_015120.4(ALMS1):c.5568G>A (p.Glu1856=) rs535259433
NM_015120.4(ALMS1):c.5569C>G (p.His1857Asp) rs777664567
NM_015120.4(ALMS1):c.5573C>G (p.Ser1858Cys) rs375354717
NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) rs769440001
NM_015120.4(ALMS1):c.560A>C (p.Asp187Ala) rs375830111
NM_015120.4(ALMS1):c.5611G>A (p.Glu1871Lys) rs372714431
NM_015120.4(ALMS1):c.5623A>G (p.Lys1875Glu) rs886038614
NM_015120.4(ALMS1):c.5625del (p.Ala1876fs) rs1057517445
NM_015120.4(ALMS1):c.5630dup (p.Gly1878fs) rs1553404109
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.5761G>A (p.Val1921Ile) rs373489525
NM_015120.4(ALMS1):c.5764T>G (p.Phe1922Val) rs545488125
NM_015120.4(ALMS1):c.5780A>G (p.Gln1927Arg) rs376161519
NM_015120.4(ALMS1):c.5783G>A (p.Gly1928Asp) rs886056304
NM_015120.4(ALMS1):c.5789G>A (p.Arg1930Gln) rs17009061
NM_015120.4(ALMS1):c.5825A>G (p.Tyr1942Cys) rs374676136
NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) rs370398704
NM_015120.4(ALMS1):c.5831G>T (p.Arg1944Leu) rs146669152
NM_015120.4(ALMS1):c.5845A>G (p.Ser1949Gly) rs367728446
NM_015120.4(ALMS1):c.5851A>G (p.Ile1951Val) rs140062566
NM_015120.4(ALMS1):c.5852T>C (p.Ile1951Thr) rs773754661
NM_015120.4(ALMS1):c.5863del (p.Glu1955fs) rs1553404150
NM_015120.4(ALMS1):c.5873A>G (p.Asp1958Gly) rs1464393698
NM_015120.4(ALMS1):c.5889del (p.Glu1964fs) rs1553404156
NM_015120.4(ALMS1):c.58G>A (p.Glu20Lys) rs939208094
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.5926del (p.Glu1976fs) rs398122994
NM_015120.4(ALMS1):c.5934G>C (p.Lys1978Asn) rs886056305
NM_015120.4(ALMS1):c.594A>G (p.Gln198=) rs373438786
NM_015120.4(ALMS1):c.5981_5982del (p.Lys1994fs) rs1553404180
NM_015120.4(ALMS1):c.5993A>G (p.Lys1998Arg) rs150331660
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.6017A>G (p.Asp2006Gly) rs886056306
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.6062C>T (p.Ser2021Leu) rs372116790
NM_015120.4(ALMS1):c.6071A>G (p.Glu2024Gly) rs376120513
NM_015120.4(ALMS1):c.6073A>G (p.Lys2025Glu) rs886056307
NM_015120.4(ALMS1):c.6074A>G (p.Lys2025Arg) rs369339997
NM_015120.4(ALMS1):c.6079A>G (p.Lys2027Glu) rs191286546
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.608_613del (p.Val203_Lys204del) rs1553399981
NM_015120.4(ALMS1):c.6095T>C (p.Ile2032Thr) rs374673974
NM_015120.4(ALMS1):c.60G>A (p.Glu20=) rs866503570
NM_015120.4(ALMS1):c.60_61insTAGGAG (p.Glu21Ter)
NM_015120.4(ALMS1):c.6115A>T (p.Thr2039Ser) rs369011755
NM_015120.4(ALMS1):c.6142T>A (p.Ser2048Thr) rs886056308
NM_015120.4(ALMS1):c.6146A>G (p.Tyr2049Cys) rs201162418
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.6218T>C (p.Leu2073Pro) rs1382952433
NM_015120.4(ALMS1):c.6219A>G (p.Leu2073=) rs754288227
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.63_64insCAG (p.Glu22_Glu23insGln) rs1553396137
NM_015120.4(ALMS1):c.6411_6412insCCTA (p.Ala2138fs) rs1553404233
NM_015120.4(ALMS1):c.6436C>A (p.Arg2146=) rs770558150
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.6461A>G (p.Gln2154Arg) rs534635095
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6486_6489del (p.Thr2163fs) rs1553404252
NM_015120.4(ALMS1):c.649+10G>A rs1553399998
NM_015120.4(ALMS1):c.649+2T>C
NM_015120.4(ALMS1):c.649+3A>G rs1553399994
NM_015120.4(ALMS1):c.649+4A>T rs1270489328
NM_015120.4(ALMS1):c.649+5T>C rs1235104737
NM_015120.4(ALMS1):c.649+8C>T rs760012033
NM_015120.4(ALMS1):c.6498T>C (p.Ala2166=) rs189124891
NM_015120.4(ALMS1):c.6499C>G (p.Leu2167Val) rs1200119538
NM_015120.4(ALMS1):c.650-19_650-18insT rs1553400422
NM_015120.4(ALMS1):c.650-4A>G rs1553400427
NM_015120.4(ALMS1):c.650-5T>C rs913268523
NM_015120.4(ALMS1):c.6509C>T (p.Ser2170Leu) rs368833782
NM_015120.4(ALMS1):c.6541G>A (p.Gly2181Arg) rs145953016
NM_015120.4(ALMS1):c.6541G>C (p.Gly2181Arg)
NM_015120.4(ALMS1):c.6546A>G (p.Leu2182=) rs1553404267
NM_015120.4(ALMS1):c.6556C>T (p.Pro2186Ser) rs77555300
NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) rs1034630858
NM_015120.4(ALMS1):c.6573_6576dup (p.Gly2193fs) rs1553404277
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.6607G>A (p.Val2203Ile) rs371544118
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.6631A>G (p.Asn2211Asp)
NM_015120.4(ALMS1):c.6640G>T (p.Asp2214Tyr) rs367656336
NM_015120.4(ALMS1):c.6693del (p.Val2232fs) rs1553404305
NM_015120.4(ALMS1):c.66_67insAAG (p.Glu23_Glu24insLys) rs905301935
NM_015120.4(ALMS1):c.6709C>A (p.Pro2237Thr) rs200724860
NM_015120.4(ALMS1):c.6710C>T (p.Pro2237Leu) rs201737248
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.67_68insTGG (p.Glu23_Glu24insVal) rs1553396144
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6802A>G (p.Met2268Val) rs142904692
NM_015120.4(ALMS1):c.6814A>G (p.Asn2272Asp) rs1558651314
NM_015120.4(ALMS1):c.6819G>A (p.Met2273Ile) rs765233946
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.6840del (p.Pro2281fs) rs1553404337
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.6850C>T (p.Leu2284Phe) rs886056309
NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs) rs1558651349
NM_015120.4(ALMS1):c.6856C>T (p.Arg2286Cys) rs375458331
NM_015120.4(ALMS1):c.6857G>T (p.Arg2286Leu) rs6546839
NM_015120.4(ALMS1):c.6901del (p.Val2301fs) rs1553404358
NM_015120.4(ALMS1):c.6928dup (p.Thr2310fs) rs1553404368
NM_015120.4(ALMS1):c.6929C>T (p.Thr2310Met) rs147001219
NM_015120.4(ALMS1):c.6940A>G (p.Asn2314Asp)
NM_015120.4(ALMS1):c.6956_6959ACAG[1] (p.Arg2320fs) rs1553404377
NM_015120.4(ALMS1):c.6969C>T (p.Phe2323=) rs370287018
NM_015120.4(ALMS1):c.698dup (p.Leu233fs) rs1553400437
NM_015120.4(ALMS1):c.6994T>C (p.Cys2332Arg) rs1060500038
NM_015120.4(ALMS1):c.7007A>T (p.Asp2336Val) rs771422712
NM_015120.4(ALMS1):c.7016C>A (p.Thr2339Lys) rs373004988
NM_015120.4(ALMS1):c.7020G>A (p.Gln2340=) rs190319211
NM_015120.4(ALMS1):c.7023G>A (p.Thr2341=) rs760756852
NM_015120.4(ALMS1):c.7034G>C (p.Cys2345Ser) rs148306148
NM_015120.4(ALMS1):c.7043G>T (p.Gly2348Val) rs752336806
NM_015120.4(ALMS1):c.7090del (p.Leu2364fs) rs1553404395
NM_015120.4(ALMS1):c.7096G>A (p.Glu2366Lys)
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7170G>T (p.Arg2390Ser) rs1553404408
NM_015120.4(ALMS1):c.7175A>T (p.Glu2392Val) rs368310126
NM_015120.4(ALMS1):c.7196C>A (p.Thr2399Asn) rs200470452
NM_015120.4(ALMS1):c.719C>T (p.Ala240Val) rs370830919
NM_015120.4(ALMS1):c.720G>A (p.Ala240=) rs373972884
NM_015120.4(ALMS1):c.7229C>G (p.Thr2410Ser) rs866357733
NM_015120.4(ALMS1):c.7229del (p.Thr2410fs) rs1553404423
NM_015120.4(ALMS1):c.7240dup (p.Ser2414fs) rs1553404426
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7265A>G (p.Asp2422Gly) rs886056310
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7280G>C (p.Cys2427Ser) rs35649068
NM_015120.4(ALMS1):c.7280G>T (p.Cys2427Phe)
NM_015120.4(ALMS1):c.7290C>G (p.Asp2430Glu) rs994637726
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.7316C>A (p.Ser2439Ter) rs1558651680
NM_015120.4(ALMS1):c.7328T>A (p.Val2443Asp) rs886056311
NM_015120.4(ALMS1):c.7333_7334delinsATA (p.Leu2445fs) rs1553404457
NM_015120.4(ALMS1):c.7362G>T (p.Lys2454Asn) rs1400122858
NM_015120.4(ALMS1):c.7370T>C (p.Ile2457Thr) rs894421376
NM_015120.4(ALMS1):c.7375_7376del (p.Thr2458_Asp2459insTer) rs1225343345
NM_015120.4(ALMS1):c.7376_7379del (p.Asp2459fs) rs1370417967
NM_015120.4(ALMS1):c.7379G>C (p.Ser2460Thr) rs778055498
NM_015120.4(ALMS1):c.7391_7395dup (p.Val2466fs) rs1553404473
NM_015120.4(ALMS1):c.7405A>G (p.Ser2469Gly) rs1007457582
NM_015120.4(ALMS1):c.7407T>A (p.Ser2469Arg) rs749127545
NM_015120.4(ALMS1):c.7429G>A (p.Val2477Ile)
NM_015120.4(ALMS1):c.7457del (p.Asn2486fs) rs1217507627
NM_015120.4(ALMS1):c.7496A>T (p.Glu2499Val) rs1164499906
NM_015120.4(ALMS1):c.7528C>T (p.Arg2510Trp)
NM_015120.4(ALMS1):c.7542_7543insAAT (p.Ala2515_Trp2516insAsn) rs757932553
NM_015120.4(ALMS1):c.7543+11A>G rs1553404509
NM_015120.4(ALMS1):c.7543+14T>G rs533780922
NM_015120.4(ALMS1):c.7543+20C>A rs1410444926
NM_015120.4(ALMS1):c.7544-15A>G rs1169514054
NM_015120.4(ALMS1):c.7544-17G>C rs758134188
NM_015120.4(ALMS1):c.7544-19G>A rs1553404624
NM_015120.4(ALMS1):c.7544-4C>G rs1380143996
NM_015120.4(ALMS1):c.7544-6C>T rs1408073039
NM_015120.4(ALMS1):c.7544-8C>A rs1553404629
NM_015120.4(ALMS1):c.7544-8C>T rs1553404629
NM_015120.4(ALMS1):c.7562A>G (p.Asn2521Ser) rs377085127
NM_015120.4(ALMS1):c.756_757insA (p.Ala253fs) rs748892226
NM_015120.4(ALMS1):c.7580G>A (p.Gly2527Glu) rs201654702
NM_015120.4(ALMS1):c.75G>A (p.Glu25=) rs1483677896
NM_015120.4(ALMS1):c.75_76insAAG (p.Glu26_Glu27insLys) rs1553396155
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.7642T>G (p.Leu2548Val) rs200155429
NM_015120.4(ALMS1):c.7656A>T (p.Gly2552=) rs1553404658
NM_015120.4(ALMS1):c.767+14T>C rs1553400457
NM_015120.4(ALMS1):c.767+19A>G rs1035974697
NM_015120.4(ALMS1):c.767+3A>G rs772334395
NM_015120.4(ALMS1):c.767+4G>A rs1167438151
NM_015120.4(ALMS1):c.767+9A>T rs551013858
NM_015120.4(ALMS1):c.7673C>T (p.Ser2558Phe) rs878855001
NM_015120.4(ALMS1):c.7677+10A>G rs1553404676
NM_015120.4(ALMS1):c.7677+1G>A rs1417025395
NM_015120.4(ALMS1):c.7677+3A>G rs1553404673
NM_015120.4(ALMS1):c.7677+5A>G rs756532322
NM_015120.4(ALMS1):c.7677+9G>T rs1046548369
NM_015120.4(ALMS1):c.7678-19G>A rs1399037677
NM_015120.4(ALMS1):c.7678-2A>G rs748477695
NM_015120.4(ALMS1):c.7678-7C>T rs1553409573
NM_015120.4(ALMS1):c.7678-8T>A rs1553409572
NM_015120.4(ALMS1):c.768-12A>G rs200209691
NM_015120.4(ALMS1):c.768-16A>G rs765256601
NM_015120.4(ALMS1):c.768-6T>A rs755762723
NM_015120.4(ALMS1):c.768-8_768-7delAT rs1553400662
NM_015120.4(ALMS1):c.7700T>C (p.Met2567Thr) rs373385088
NM_015120.4(ALMS1):c.7703G>T (p.Gly2568Val) rs199831059
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
NM_015120.4(ALMS1):c.772del (p.Ile258fs) rs1553400675
NM_015120.4(ALMS1):c.7743G>C (p.Glu2581Asp)
NM_015120.4(ALMS1):c.7746C>T (p.Ser2582=) rs370740871
NM_015120.4(ALMS1):c.7764C>T (p.Phe2588=) rs1553409598
NM_015120.4(ALMS1):c.77_78insCGA (p.Glu26_Glu27insAsp) rs1491479006
NM_015120.4(ALMS1):c.77_78insGGC (p.Glu27_Glu28insAla) rs1553396120
NM_015120.4(ALMS1):c.7804C>T (p.Pro2602Ser) rs1553409608
NM_015120.4(ALMS1):c.780T>G (p.Asp260Glu) rs190445250
NM_015120.4(ALMS1):c.7815C>G (p.Phe2605Leu) rs201739856
NM_015120.4(ALMS1):c.7830del (p.Ser2611fs) rs1553409617
NM_015120.4(ALMS1):c.783G>A (p.Lys261=) rs1553400683
NM_015120.4(ALMS1):c.7881T>A (p.His2627Gln) rs940478567
NM_015120.4(ALMS1):c.7895C>T (p.Ala2632Val) rs1027248513
NM_015120.4(ALMS1):c.78_80dup (p.Glu29dup) rs1553396161
NM_015120.4(ALMS1):c.7903G>T (p.Asp2635Tyr) rs201426207
NM_015120.4(ALMS1):c.7915T>A (p.Ser2639Thr) rs548882067
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.8001_8016dup (p.Phe2673fs) rs1553409656
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.8034C>A (p.Asp2678Glu) rs754078506
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.8077A>G (p.Lys2693Glu) rs201025991
NM_015120.4(ALMS1):c.8078_8080AAG[1] (p.Glu2694del) rs1553409676
NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) rs371904071
NM_015120.4(ALMS1):c.8136del (p.Phe2712fs) rs1553409683
NM_015120.4(ALMS1):c.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8155dup (p.Ser2719fs) rs1553409691
NM_015120.4(ALMS1):c.8159C>G (p.Ser2720Cys)
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8171C>A (p.Ser2724Tyr) rs368409205
NM_015120.4(ALMS1):c.8198T>C (p.Val2733Ala) rs200859630
NM_015120.4(ALMS1):c.8200A>C (p.Lys2734Gln) rs1553409698
NM_015120.4(ALMS1):c.8242G>T (p.Val2748Leu) rs878855002
NM_015120.4(ALMS1):c.8243T>G (p.Val2748Gly) rs188857186
NM_015120.4(ALMS1):c.825T>C (p.Ser275=) rs145009331
NM_015120.4(ALMS1):c.8260C>A (p.His2754Asn) rs200718841
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.8318_8320CAT[1] (p.Ser2774del) rs770459045
NM_015120.4(ALMS1):c.8326A>G (p.Lys2776Glu)
NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) rs1553409710
NM_015120.4(ALMS1):c.8361_8366del (p.Ile2788_Leu2789del) rs1553409711
NM_015120.4(ALMS1):c.8362A>G (p.Ile2788Val) rs200075429
NM_015120.4(ALMS1):c.8383C>T (p.Gln2795Ter) rs193919338
NM_015120.4(ALMS1):c.8394dup (p.Leu2799fs) rs1553409715
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.8442A>G (p.Glu2814=) rs886038617
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8482A>C (p.Arg2828=) rs886056312
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167
NM_015120.4(ALMS1):c.8527C>G (p.His2843Asp) rs1553409736
NM_015120.4(ALMS1):c.8549G>A (p.Arg2850Lys) rs200009686
NM_015120.4(ALMS1):c.8563C>G (p.Leu2855Val) rs765176591
NM_015120.4(ALMS1):c.8580G>A (p.Ser2860=) rs199850691
NM_015120.4(ALMS1):c.861A>G (p.Ser287=) rs748158586
NM_015120.4(ALMS1):c.8633_8635CTT[1] (p.Ser2879del) rs1553409754
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.8651_8653AAC[1] (p.Gln2885del) rs777935409
NM_015120.4(ALMS1):c.8657G>A (p.Arg2886Gln) rs185447739
NM_015120.4(ALMS1):c.8714A>C (p.His2905Pro) rs370508584
NM_015120.4(ALMS1):c.8721dup (p.Ser2908fs) rs1553409764
NM_015120.4(ALMS1):c.8726C>T (p.Pro2909Leu)
NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) rs142611294
NM_015120.4(ALMS1):c.8755_8758CTTC[1] (p.Pro2920fs) rs1553409774
NM_015120.4(ALMS1):c.8759_8761CTT[1] (p.Ser2921del) rs1553409775
NM_015120.4(ALMS1):c.875G>C (p.Ser292Thr) rs568470985
NM_015120.4(ALMS1):c.8766C>A (p.Cys2922Ter)
NM_015120.4(ALMS1):c.8783G>A (p.Arg2928Gln)
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_015120.4(ALMS1):c.8814T>C (p.Tyr2938=) rs541559170
NM_015120.4(ALMS1):c.8819A>G (p.Asp2940Gly) rs886056313
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015120.4(ALMS1):c.8867C>G (p.Ser2956Cys) rs1248081824
NM_015120.4(ALMS1):c.8885C>T (p.Pro2962Leu) rs781477502
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8904A>G (p.Glu2968=) rs371736476
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.8931A>G (p.Val2977=) rs373374154
NM_015120.4(ALMS1):c.8977G>T (p.Asp2993Tyr) rs937731506
NM_015120.4(ALMS1):c.8986G>A (p.Val2996Met) rs1553409810
NM_015120.4(ALMS1):c.8995_8997AAT[1] (p.Asn3000del) rs1553409817
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.9021C>T (p.His3007=) rs376757358
NM_015120.4(ALMS1):c.9052A>G (p.Asn3018Asp)
NM_015120.4(ALMS1):c.905T>C (p.Ile302Thr) rs374259576
NM_015120.4(ALMS1):c.9081T>C (p.Asn3027=) rs886056314
NM_015120.4(ALMS1):c.9086G>A (p.Cys3029Tyr)
NM_015120.4(ALMS1):c.9112_9114CCT[1] (p.Pro3039del) rs759799299
NM_015120.4(ALMS1):c.9115C>T (p.Pro3039Ser) rs370622410
NM_015120.4(ALMS1):c.9116del (p.Pro3039fs) rs1425609364
NM_015120.4(ALMS1):c.9148A>G (p.Ile3050Val)
NM_015120.4(ALMS1):c.9152_9153CT[1] (p.Cys3053fs) rs1553409851
NM_015120.4(ALMS1):c.9173_9193dup (p.Ser3058_Thr3064dup) rs1455775922
NM_015120.4(ALMS1):c.9176A>G (p.Lys3059Arg) rs149329669
NM_015120.4(ALMS1):c.9194T>C (p.Leu3065Ser) rs1434010689
NM_015120.4(ALMS1):c.9227C>T (p.Ser3076Phe) rs886056315
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.928_929insT (p.Gln310fs) rs1553400709
NM_015120.4(ALMS1):c.9296C>A (p.Thr3099Asn) rs1553409866
NM_015120.4(ALMS1):c.9324A>G (p.Val3108=) rs371108940
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.9362A>C (p.Lys3121Thr) rs375038066
NM_015120.4(ALMS1):c.9363A>G (p.Lys3121=) rs368408369
NM_015120.4(ALMS1):c.9389A>C (p.Gln3130Pro) rs372015288
NM_015120.4(ALMS1):c.9392C>G (p.Pro3131Arg) rs200586877
NM_015120.4(ALMS1):c.9395C>T (p.Ser3132Phe) rs144588413
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.9499G>A (p.Glu3167Lys) rs201208516
NM_015120.4(ALMS1):c.94_96GCG[7] (p.Ala35_Ala36dup) rs746896173
NM_015120.4(ALMS1):c.9541C>A (p.Arg3181=) rs563393715
NM_015120.4(ALMS1):c.9541C>G (p.Arg3181Gly) rs563393715
NM_015120.4(ALMS1):c.9541C>T (p.Arg3181Ter)
NM_015120.4(ALMS1):c.9542+10A>G rs1553409904
NM_015120.4(ALMS1):c.9542+13G>C rs369860432
NM_015120.4(ALMS1):c.9542+1G>T rs1553409901
NM_015120.4(ALMS1):c.9542+20C>T rs759559244
NM_015120.4(ALMS1):c.9542G>A (p.Arg3181Gln) rs772197358
NM_015120.4(ALMS1):c.9543-15C>A rs780375594
NM_015120.4(ALMS1):c.9543-16delT rs765235024
NM_015120.4(ALMS1):c.9543-7dup rs750386293
NM_015120.4(ALMS1):c.9550_9552del (p.Glu3184del) rs1553412739
NM_015120.4(ALMS1):c.956G>A (p.Gly319Glu) rs372886271
NM_015120.4(ALMS1):c.958A>G (p.Asn320Asp) rs376892136
NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) rs369682692
NM_015120.4(ALMS1):c.9613A>G (p.Ile3205Val) rs377600448
NM_015120.4(ALMS1):c.9615A>C (p.Ile3205=) rs755456619
NM_015120.4(ALMS1):c.9616_9618ACA[1] (p.Thr3207del) rs762803723
NM_015120.4(ALMS1):c.9620C>T (p.Thr3207Ile) rs201624771
NM_015120.4(ALMS1):c.9672A>C (p.Glu3224Asp) rs376206840
NM_015120.4(ALMS1):c.9676C>T (p.Arg3226Cys) rs200215551
NM_015120.4(ALMS1):c.9677G>A (p.Arg3226His) rs765685958
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.9756A>G (p.Gln3252=) rs1553412793
NM_015120.4(ALMS1):c.9757_9758insCTC (p.Gln3253_Val3254insPro) rs766127195
NM_015120.4(ALMS1):c.9763_9764dup (p.Phe3256fs) rs1553412797
NM_015120.4(ALMS1):c.9772C>T (p.Arg3258Cys)
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9782-9C>T rs10199680
NM_015120.4(ALMS1):c.9784+11G>A rs970258030
NM_015120.4(ALMS1):c.9784+19A>C rs895296631
NM_015120.4(ALMS1):c.9784+5G>C rs1553412803
NM_015120.4(ALMS1):c.9785-11dup rs1553414055
NM_015120.4(ALMS1):c.9785-13T>G rs530508947
NM_015120.4(ALMS1):c.9785-18T>C rs995894081
NM_015120.4(ALMS1):c.9785-6C>T rs1414733616
NM_015120.4(ALMS1):c.9785-8C>T rs1553414061
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015120.4(ALMS1):c.9806A>G (p.Tyr3269Cys) rs375515965
NM_015120.4(ALMS1):c.9818_9831del (p.Gly3273fs) rs1553414071
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9831G>A (p.Met3277Ile) rs551840069
NM_015120.4(ALMS1):c.9832_9835dup (p.Tyr3279fs)
NM_015120.4(ALMS1):c.9833A>G (p.Tyr3278Cys) rs200826787
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9869C>T (p.Pro3290Leu) rs369660958
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.9891C>T (p.Thr3297=) rs372451785
NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) rs754702823
NM_015120.4(ALMS1):c.9910+14A>G rs1402624178
NM_015120.4(ALMS1):c.9910+17A>C rs772675597
NM_015120.4(ALMS1):c.9910+17A>G rs772675597
NM_015120.4(ALMS1):c.9910+20C>A rs74730457
NM_015120.4(ALMS1):c.9910+5T>G rs1553414096
NM_015120.4(ALMS1):c.9910+7T>G rs375870610
NM_015120.4(ALMS1):c.9911-13C>G rs373325114
NM_015120.4(ALMS1):c.9911-13C>T rs373325114
NM_015120.4(ALMS1):c.9911-15C>G rs1389556610
NM_015120.4(ALMS1):c.9911-6C>G rs1553416191
NM_015120.4(ALMS1):c.9917A>G (p.Asn3306Ser) rs142022233
NM_015120.4(ALMS1):c.991C>T (p.Leu331=) rs187880759
NM_015120.4(ALMS1):c.9935A>C (p.Asp3312Ala) rs1553416202
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
NM_015120.4:c.54_55ins6 rs1553396125
NM_015120.4:c.69_70ins6 rs1553396142
NM_015120.4:c.77_78ins6 rs1491479006

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.