ClinVar Miner

List of variants in gene ALMS1 reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 811
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10047G>A (p.Val3349=)
NM_001378454.1(ALMS1):c.10050A>G (p.Gly3350=)
NM_001378454.1(ALMS1):c.10059C>T (p.Pro3353=)
NM_001378454.1(ALMS1):c.10078+7G>A
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=)
NM_001378454.1(ALMS1):c.10214-4G>A
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=)
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=)
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=)
NM_001378454.1(ALMS1):c.10385-7T>A
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=)
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=)
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=)
NM_001378454.1(ALMS1):c.10485T>C (p.Asp3495=)
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=)
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)
NM_001378454.1(ALMS1):c.10497A>G (p.Glu3499=)
NM_001378454.1(ALMS1):c.1050A>T (p.Thr350=)
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=)
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=)
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=)
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=)
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=)
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=)
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=)
NM_001378454.1(ALMS1):c.10833A>G (p.Gln3611=)
NM_001378454.1(ALMS1):c.10849T>C (p.Leu3617=)
NM_001378454.1(ALMS1):c.10854T>A (p.Gly3618=)
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=)
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=)
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=)
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=)
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=)
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=)
NM_001378454.1(ALMS1):c.111G>T (p.Val37=)
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=)
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=)
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=)
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=)
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=)
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=)
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=)
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=)
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=)
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=)
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=)
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=)
NM_001378454.1(ALMS1):c.11547+7G>A
NM_001378454.1(ALMS1):c.11548-5T>C
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=)
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=)
NM_001378454.1(ALMS1):c.11668+9T>C
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=)
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=)
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=)
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=)
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=)
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=)
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=)
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=)
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=)
NM_001378454.1(ALMS1):c.11910T>C (p.Ser3970=)
NM_001378454.1(ALMS1):c.11928C>T (p.Asn3976=)
NM_001378454.1(ALMS1):c.11931G>A (p.Val3977=)
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=)
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=)
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=)
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=)
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=)
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=)
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=)
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=)
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=)
NM_001378454.1(ALMS1):c.12093A>G (p.Pro4031=)
NM_001378454.1(ALMS1):c.1209A>G (p.Ser403=)
NM_001378454.1(ALMS1):c.120A>G (p.Val40=)
NM_001378454.1(ALMS1):c.12105A>C (p.Ala4035=)
NM_001378454.1(ALMS1):c.12114+5_12114+66dup
NM_001378454.1(ALMS1):c.12115-7C>T
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=)
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=)
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=)
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
NM_001378454.1(ALMS1):c.12291C>T (p.Pro4097=)
NM_001378454.1(ALMS1):c.12298+10G>A
NM_001378454.1(ALMS1):c.12298+10G>T
NM_001378454.1(ALMS1):c.12362+7C>A
NM_001378454.1(ALMS1):c.1238-5T>C
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=)
NM_001378454.1(ALMS1):c.12423A>G (p.Glu4141=)
NM_001378454.1(ALMS1):c.12432A>G (p.Ser4144=)
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=)
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=)
NM_001378454.1(ALMS1):c.126C>T (p.Val42=)
NM_001378454.1(ALMS1):c.1302T>C (p.Val434=)
NM_001378454.1(ALMS1):c.1327C>T (p.Leu443=)
NM_001378454.1(ALMS1):c.1329A>G (p.Leu443=)
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=)
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=)
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=)
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=)
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=)
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=)
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=)
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=)
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=)
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=)
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=)
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=)
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=)
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=)
NM_001378454.1(ALMS1):c.1776T>C (p.Ser592=)
NM_001378454.1(ALMS1):c.1806A>G (p.Ser602=)
NM_001378454.1(ALMS1):c.1809T>A (p.Ala603=)
NM_001378454.1(ALMS1):c.1809T>C (p.Ala603=)
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=)
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=)
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=)
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=)
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=)
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=)
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=)
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=)
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=)
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=)
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=)
NM_001378454.1(ALMS1):c.2100A>G (p.Gly700=)
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=)
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=)
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=)
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=)
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=)
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=)
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=)
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=)
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=)
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=)
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=)
NM_001378454.1(ALMS1):c.2553A>C (p.Pro851=)
NM_001378454.1(ALMS1):c.2562C>G (p.Thr854=)
NM_001378454.1(ALMS1):c.2562C>T (p.Thr854=)
NM_001378454.1(ALMS1):c.2577G>A (p.Ala859=)
NM_001378454.1(ALMS1):c.2577G>C (p.Ala859=)
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=)
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=)
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=)
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=)
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=)
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=)
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=)
NM_001378454.1(ALMS1):c.282G>C (p.Pro94=)
NM_001378454.1(ALMS1):c.2847A>G (p.Thr949=)
NM_001378454.1(ALMS1):c.2850G>A (p.Val950=)
NM_001378454.1(ALMS1):c.2850G>T (p.Val950=)
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=)
NM_001378454.1(ALMS1):c.2935C>T (p.Leu979=)
NM_001378454.1(ALMS1):c.2949T>C (p.Ala983=)
NM_001378454.1(ALMS1):c.2955T>C (p.Pro985=)
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=)
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=)
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=)
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=)
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=)
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=)
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=)
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=)
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=)
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=)
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=)
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=)
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=)
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=)
NM_001378454.1(ALMS1):c.348A>G (p.Val116=)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=)
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=)
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=)
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=)
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=)
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=)
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=)
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=)
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=)
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=)
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=)
NM_001378454.1(ALMS1):c.3897G>A (p.Gln1299=)
NM_001378454.1(ALMS1):c.3900G>A (p.Ser1300=)
NM_001378454.1(ALMS1):c.3900G>T (p.Ser1300=)
NM_001378454.1(ALMS1):c.3903G>A (p.Leu1301=)
NM_001378454.1(ALMS1):c.3918A>G (p.Leu1306=)
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=)
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=)
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=)
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
NM_001378454.1(ALMS1):c.4164G>C (p.Pro1388=)
NM_001378454.1(ALMS1):c.4164G>T (p.Pro1388=)
NM_001378454.1(ALMS1):c.4167T>C (p.Ser1389=)
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=)
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=)
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=)
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=)
NM_001378454.1(ALMS1):c.4407A>G (p.Pro1469=)
NM_001378454.1(ALMS1):c.4413A>G (p.Val1471=)
NM_001378454.1(ALMS1):c.441G>T (p.Gly147=)
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=)
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=)
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=)
NM_001378454.1(ALMS1):c.4509A>T (p.Ser1503=)
NM_001378454.1(ALMS1):c.451-4C>G
NM_001378454.1(ALMS1):c.451-5T>C
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=)
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=)
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=)
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=)
NM_001378454.1(ALMS1):c.4615C>T (p.Leu1539=)
NM_001378454.1(ALMS1):c.4626A>G (p.Gln1542=)
NM_001378454.1(ALMS1):c.4638G>A (p.Glu1546=)
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=)
NM_001378454.1(ALMS1):c.4683T>A (p.Thr1561=)
NM_001378454.1(ALMS1):c.4701C>T (p.Thr1567=)
NM_001378454.1(ALMS1):c.4713C>T (p.Tyr1571=)
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=)
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=)
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=)
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=)
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=)
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=)
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=)
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=)
NM_001378454.1(ALMS1):c.5079T>C (p.Pro1693=)
NM_001378454.1(ALMS1):c.5121A>G (p.Val1707=)
NM_001378454.1(ALMS1):c.5124C>T (p.Ser1708=)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=)
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=)
NM_001378454.1(ALMS1):c.5178G>A (p.Leu1726=)
NM_001378454.1(ALMS1):c.5178G>T (p.Leu1726=)
NM_001378454.1(ALMS1):c.5181A>G (p.Pro1727=)
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=)
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=)
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=)
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=)
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=)
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=)
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=)
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=)
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=)
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=)
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=)
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=)
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=)
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=)
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=)
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=)
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=)
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=)
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=)
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=)
NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=)
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=)
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=)
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=)
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=)
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=)
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=)
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=)
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=)
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=)
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=)
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=)
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=)
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=)
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=)
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=)
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
NM_001378454.1(ALMS1):c.7131T>C (p.Thr2377=)
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=)
NM_001378454.1(ALMS1):c.7165A>C (p.Arg2389=)
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=)
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=)
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=)
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=)
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=)
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=)
NM_001378454.1(ALMS1):c.7540+10A>G
NM_001378454.1(ALMS1):c.75A>G (p.Glu25=)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=)
NM_001378454.1(ALMS1):c.765-10A>G
NM_001378454.1(ALMS1):c.765-8A>G
NM_001378454.1(ALMS1):c.7675-9A>G
NM_001378454.1(ALMS1):c.7692G>C (p.Arg2564=)
NM_001378454.1(ALMS1):c.7695A>C (p.Gly2565=)
NM_001378454.1(ALMS1):c.7701A>T (p.Gly2567=)
NM_001378454.1(ALMS1):c.7710A>G (p.Pro2570=)
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=)
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=)
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=)
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=)
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
NM_001378454.1(ALMS1):c.7893A>C (p.Ala2631=)
NM_001378454.1(ALMS1):c.78G>A (p.Glu26=)
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=)
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=)
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=)
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=)
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=)
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=)
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=)
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=)
NM_001378454.1(ALMS1):c.8163A>G (p.Arg2721=)
NM_001378454.1(ALMS1):c.8172A>G (p.Lys2724=)
NM_001378454.1(ALMS1):c.8211T>G (p.Thr2737=)
NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=)
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=)
NM_001378454.1(ALMS1):c.8283C>T (p.Pro2761=)
NM_001378454.1(ALMS1):c.828T>C (p.Ala276=)
NM_001378454.1(ALMS1):c.8304C>A (p.Thr2768=)
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=)
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=)
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=)
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=)
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=)
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=)
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=)
NM_001378454.1(ALMS1):c.8655A>C (p.Arg2885=)
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=)
NM_001378454.1(ALMS1):c.8688A>G (p.Ala2896=)
NM_001378454.1(ALMS1):c.8691T>C (p.Asp2897=)
NM_001378454.1(ALMS1):c.8703G>A (p.Arg2901=)
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=)
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=)
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=)
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=)
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=)
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=)
NM_001378454.1(ALMS1):c.9042C>G (p.Ala3014=)
NM_001378454.1(ALMS1):c.9042C>T (p.Ala3014=)
NM_001378454.1(ALMS1):c.9048C>T (p.Phe3016=)
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=)
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=)
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=)
NM_001378454.1(ALMS1):c.9162G>A (p.Lys3054=)
NM_001378454.1(ALMS1):c.9171C>T (p.Ser3057=)
NM_001378454.1(ALMS1):c.9174G>A (p.Lys3058=)
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=)
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=)
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=)
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=)
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=)
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=)
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=)
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=)
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=)
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=)
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=)
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=)
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=)
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=)
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=)
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=)
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=)
NM_001378454.1(ALMS1):c.9723T>C (p.Pro3241=)
NM_001378454.1(ALMS1):c.9726C>G (p.Val3242=)
NM_001378454.1(ALMS1):c.9729G>A (p.Lys3243=)
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317
NM_001378454.1(ALMS1):c.9747A>G (p.Ser3249=)
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=)
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=)
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=)
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=)
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=)
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=)
NM_001378454.1(ALMS1):c.9907+8G>A
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=)
NM_015120.4(ALMS1):c.-27_-25delCTC rs746980000
NM_015120.4(ALMS1):c.10023G>A (p.Arg3341=) rs746166271
NM_015120.4(ALMS1):c.10026A>G (p.Val3342=) rs770072519
NM_015120.4(ALMS1):c.10041C>T (p.Ser3347=) rs375436336
NM_015120.4(ALMS1):c.10079-19A>G rs935864365
NM_015120.4(ALMS1):c.10081+10T>C rs752454047
NM_015120.4(ALMS1):c.10082-10G>A rs778996015
NM_015120.4(ALMS1):c.10089A>G (p.Ser3363=) rs747033366
NM_015120.4(ALMS1):c.10140A>G (p.Gln3380=) rs756623131
NM_015120.4(ALMS1):c.10213+11T>C rs1553416883
NM_015120.4(ALMS1):c.10213+17G>C rs1553416885
NM_015120.4(ALMS1):c.10214-19G>A rs763103896
NM_015120.4(ALMS1):c.10216+7A>G rs1553416882
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=) rs754938453
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.10300A>G (p.Thr3434Ala) rs750493624
NM_015120.4(ALMS1):c.1035A>G (p.Ser345=) rs376519124
NM_015120.4(ALMS1):c.10371A>G (p.Leu3457=) rs929142880
NM_015120.4(ALMS1):c.10392C>T (p.Ser3464=) rs760299487
NM_015120.4(ALMS1):c.1044A>G (p.Ser348=) rs1553400737
NM_015120.4(ALMS1):c.10464C>T (p.Pro3488=) rs202036843
NM_015120.4(ALMS1):c.105G>C (p.Ala35=) rs1574423870
NM_015120.4(ALMS1):c.10614G>A (p.Lys3538=) rs1470146152
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
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.10861A>C (p.Arg3621=) rs201598829
NM_015120.4(ALMS1):c.10863G>A (p.Arg3621=) rs373682259
NM_015120.4(ALMS1):c.10869A>G (p.Glu3623=) rs377601961
NM_015120.4(ALMS1):c.10971G>C (p.Gly3657=) rs1439789927
NM_015120.4(ALMS1):c.11073C>A (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11073C>T (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11148A>G (p.Lys3716=) rs1573030809
NM_015120.4(ALMS1):c.11226G>A (p.Glu3742=) rs28730859
NM_015120.4(ALMS1):c.11326C>T (p.Leu3776=) rs771595125
NM_015120.4(ALMS1):c.11328G>C (p.Leu3776=) rs1573031104
NM_015120.4(ALMS1):c.11331C>T (p.His3777=) rs45596541
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11382T>C (p.Ala3794=) rs377090880
NM_015120.4(ALMS1):c.11410C>T (p.Pro3804Ser) rs189032342
NM_015120.4(ALMS1):c.11460C>T (p.Tyr3820=) rs373397289
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) rs750087396
NM_015120.4(ALMS1):c.11514A>G (p.Leu3838=) rs374164508
NM_015120.4(ALMS1):c.11547+12C>A rs755559102
NM_015120.4(ALMS1):c.11547+12C>T rs755559102
NM_015120.4(ALMS1):c.11547+13A>G rs753246208
NM_015120.4(ALMS1):c.11547+16T>C rs373935106
NM_015120.4(ALMS1):c.11547+7G>C rs1553418641
NM_015120.4(ALMS1):c.11548-19A>T rs760271173
NM_015120.4(ALMS1):c.11577C>T (p.Asp3859=) rs561636004
NM_015120.4(ALMS1):c.11613A>G (p.Ser3871=) rs188172095
NM_015120.4(ALMS1):c.1164T>C (p.His388=) rs191091347
NM_015120.4(ALMS1):c.11668+12A>G rs1553421500
NM_015120.4(ALMS1):c.11669-17A>G rs762591261
NM_015120.4(ALMS1):c.11745C>T (p.Ser3915=) rs374909171
NM_015120.4(ALMS1):c.11751G>A (p.Glu3917=) rs373364340
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.11775T>C (p.Asp3925=) rs201924342
NM_015120.4(ALMS1):c.11781T>C (p.Thr3927=) rs368160921
NM_015120.4(ALMS1):c.11823C>G (p.Thr3941=) rs565546868
NM_015120.4(ALMS1):c.1182A>C (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.1182A>T (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.11870A>G (p.His3957Arg) rs553786370
NM_015120.4(ALMS1):c.11871T>C (p.His3957=) rs370489767
NM_015120.4(ALMS1):c.11872+12A>G rs193922691
NM_015120.4(ALMS1):c.11872+7T>A rs763235048
NM_015120.4(ALMS1):c.11872+9C>G rs768886966
NM_015120.4(ALMS1):c.1191G>A (p.Gln397=) rs368655814
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val) rs201728850
NM_015120.4(ALMS1):c.12009G>A (p.Arg4003=) rs1573054242
NM_015120.4(ALMS1):c.12039C>T (p.Asp4013=) rs370981817
NM_015120.4(ALMS1):c.12111C>G (p.Thr4037=) rs767174517
NM_015120.4(ALMS1):c.12114+12T>C rs377393930
NM_015120.4(ALMS1):c.12114+14G>T rs1057524070
NM_015120.4(ALMS1):c.12114+19A>G rs760374917
NM_015120.4(ALMS1):c.12114+19A>T rs760374917
NM_015120.4(ALMS1):c.12150C>T (p.Ile4050=) rs374328093
NM_015120.4(ALMS1):c.12177C>T (p.Arg4059=) rs377661858
NM_015120.4(ALMS1):c.12180G>T (p.Leu4060=) rs1573055527
NM_015120.4(ALMS1):c.12201G>A (p.Arg4067=) rs199603690
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12237A>G (p.Ala4079=) rs374508659
NM_015120.4(ALMS1):c.12288G>A (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12298+14G>A rs755931726
NM_015120.4(ALMS1):c.12298+19C>T rs1553421935
NM_015120.4(ALMS1):c.12301+7C>T rs1252100215
NM_015120.4(ALMS1):c.12302-6G>A rs771317399
NM_015120.4(ALMS1):c.12324C>T (p.Asn4108=) rs767420244
NM_015120.4(ALMS1):c.12357G>A (p.Arg4119=) rs546745992
NM_015120.4(ALMS1):c.12362+16C>G rs1553422061
NM_015120.4(ALMS1):c.12363-14G>A rs377374398
NM_015120.4(ALMS1):c.12365+18A>T rs535484933
NM_015120.4(ALMS1):c.1237+10C>G rs1291450244
NM_015120.4(ALMS1):c.1237+14T>C rs1482335275
NM_015120.4(ALMS1):c.1238-20A>G rs771811655
NM_015120.4(ALMS1):c.1238-9A>G rs372652836
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.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12462+10T>C rs748315200
NM_015120.4(ALMS1):c.12462+12C>T rs1553422680
NM_015120.4(ALMS1):c.12462+12_12462+18del rs1374364094
NM_015120.4(ALMS1):c.12462+19T>C rs1309452497
NM_015120.4(ALMS1):c.12463-4A>G rs755283383
NM_015120.4(ALMS1):c.12466-9C>G rs1553422761
NM_015120.4(ALMS1):c.1275T>C (p.Ile425=) rs544932125
NM_015120.4(ALMS1):c.1338+11A>G rs1553400967
NM_015120.4(ALMS1):c.1338+18G>A rs369695595
NM_015120.4(ALMS1):c.1338+20T>A rs1466354765
NM_015120.4(ALMS1):c.1342-8C>T rs1553401596
NM_015120.4(ALMS1):c.1356G>A (p.Ser452=) rs370873335
NM_015120.4(ALMS1):c.1389G>A (p.Arg463=) rs749794703
NM_015120.4(ALMS1):c.1432+12A>G rs1553401640
NM_015120.4(ALMS1):c.1432+14G>A rs1204922039
NM_015120.4(ALMS1):c.1432+15G>A rs376610564
NM_015120.4(ALMS1):c.1432+16A>G rs1553401642
NM_015120.4(ALMS1):c.1435+7A>G rs1468328132
NM_015120.4(ALMS1):c.1440C>T (p.Asp480=) rs372610345
NM_015120.4(ALMS1):c.1473A>G (p.Gln491=) rs769982352
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.1569A>G (p.Val523=) rs1411790516
NM_015120.4(ALMS1):c.1698T>C (p.Thr566=) rs368992526
NM_015120.4(ALMS1):c.1713A>C (p.Val571=) rs201095989
NM_015120.4(ALMS1):c.1734T>C (p.His578=) rs768761501
NM_015120.4(ALMS1):c.1737G>A (p.Arg579=) rs1027908105
NM_015120.4(ALMS1):c.1761G>A (p.Gln587=) rs377037998
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=) rs369744185
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1857C>T (p.Thr619=) rs1327400351
NM_015120.4(ALMS1):c.1868A>G (p.Tyr623Cys) rs193922693
NM_015120.4(ALMS1):c.1869C>T (p.Tyr623=) rs1474922476
NM_015120.4(ALMS1):c.1887T>C (p.Pro629=) rs373831151
NM_015120.4(ALMS1):c.1929C>T (p.Thr643=) rs745591025
NM_015120.4(ALMS1):c.1965A>G (p.Pro655=) rs1572931748
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.2025C>T (p.Asp675=) rs374151754
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.2052G>A (p.Leu684=) rs1572931934
NM_015120.4(ALMS1):c.2082G>C (p.Leu694=) rs1320005523
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.2106A>C (p.Pro702=) rs750362630
NM_015120.4(ALMS1):c.210C>T (p.Asp70=) rs752874408
NM_015120.4(ALMS1):c.2125A>G (p.Thr709Ala) rs571389435
NM_015120.4(ALMS1):c.2139C>T (p.Leu713=) rs747504060
NM_015120.4(ALMS1):c.2190G>A (p.Glu730=) rs536950181
NM_015120.4(ALMS1):c.2199C>T (p.Asp733=) rs754758293
NM_015120.4(ALMS1):c.237C>G (p.Ala79=) rs368947491
NM_015120.4(ALMS1):c.2475C>G (p.Ala825=) rs368270850
NM_015120.4(ALMS1):c.2484C>T (p.Asp828=) rs748371743
NM_015120.4(ALMS1):c.2496C>T (p.Pro832=) rs561060460
NM_015120.4(ALMS1):c.2520T>G (p.Ala840=) rs765949316
NM_015120.4(ALMS1):c.2538C>G (p.Asp846Glu) rs77517267
NM_015120.4(ALMS1):c.2767C>T (p.Leu923=) rs143885319
NM_015120.4(ALMS1):c.2820A>G (p.Val940=) rs376517753
NM_015120.4(ALMS1):c.282C>G (p.Pro94=) rs770203539
NM_015120.4(ALMS1):c.282C>T (p.Pro94=) rs770203539
NM_015120.4(ALMS1):c.2883A>G (p.Lys961=) rs1238528749
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.2964G>A (p.Leu988=) rs745503022
NM_015120.4(ALMS1):c.3012C>T (p.Phe1004=) rs1572933379
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.3123T>A (p.Thr1041=) rs372764773
NM_015120.4(ALMS1):c.318C>T (p.Ser106=) rs754611450
NM_015120.4(ALMS1):c.324+12C>T rs1553396311
NM_015120.4(ALMS1):c.324+14G>A rs1553396313
NM_015120.4(ALMS1):c.324+16G>C rs1276086207
NM_015120.4(ALMS1):c.324+16G>T rs1276086207
NM_015120.4(ALMS1):c.324+18G>A rs1553396316
NM_015120.4(ALMS1):c.324+7C>G rs1230102179
NM_015120.4(ALMS1):c.3249A>G (p.Pro1083=) rs532389598
NM_015120.4(ALMS1):c.325-8A>G rs200740825
NM_015120.4(ALMS1):c.327+10G>C rs778690416
NM_015120.4(ALMS1):c.328-6T>C rs760582213
NM_015120.4(ALMS1):c.328-8A>C rs200740825
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
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.3333C>T (p.Thr1111=) rs749570443
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3402G>A (p.Lys1134=) rs376683428
NM_015120.4(ALMS1):c.348T>C (p.His116=) rs1572904510
NM_015120.4(ALMS1):c.3735G>A (p.Lys1245=) rs140670994
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.3870T>C (p.Tyr1290=) rs369314182
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.4074T>G (p.Ala1358=) rs1572934855
NM_015120.4(ALMS1):c.4137T>C (p.Ser1379=) rs200491758
NM_015120.4(ALMS1):c.4143T>C (p.Ser1381=) rs1362041238
NM_015120.4(ALMS1):c.4152A>G (p.Gln1384=) rs370508895
NM_015120.4(ALMS1):c.4188G>A (p.Ser1396=) rs758814503
NM_015120.4(ALMS1):c.4207A>G (p.Thr1403Ala) rs199649563
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.435G>A (p.Arg145=) rs772143925
NM_015120.4(ALMS1):c.4360T>C (p.Leu1454=) rs879109152
NM_015120.4(ALMS1):c.4403G>T (p.Gly1468Val) rs78102263
NM_015120.4(ALMS1):c.4467G>A (p.Gln1489=) rs770845249
NM_015120.4(ALMS1):c.450+11T>C rs763724672
NM_015120.4(ALMS1):c.450+11T>G rs763724672
NM_015120.4(ALMS1):c.450+12G>A rs1553398856
NM_015120.4(ALMS1):c.450+19G>A rs1553398858
NM_015120.4(ALMS1):c.450+22_450+25del rs764559198
NM_015120.4(ALMS1):c.450+24_450+40del rs1553398860
NM_015120.4(ALMS1):c.451-16T>C rs1553399953
NM_015120.4(ALMS1):c.451-19T>C rs768590349
NM_015120.4(ALMS1):c.451-20T>C rs762592063
NM_015120.4(ALMS1):c.453+7C>A rs775200355
NM_015120.4(ALMS1):c.454-5T>G rs774098604
NM_015120.4(ALMS1):c.4545C>T (p.Gly1515=) rs763511170
NM_015120.4(ALMS1):c.4650A>G (p.Arg1550=) rs564445910
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.4764T>C (p.Asp1588=) rs747858041
NM_015120.4(ALMS1):c.4830C>T (p.Asp1610=) rs371708421
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.4902A>G (p.Leu1634=) rs1060503816
NM_015120.4(ALMS1):c.4905C>T (p.Asp1635=) rs1553403951
NM_015120.4(ALMS1):c.4923G>A (p.Glu1641=) rs1572935943
NM_015120.4(ALMS1):c.4941T>G (p.Ala1647=) rs767547246
NM_015120.4(ALMS1):c.4998C>T (p.Tyr1666=) rs762003836
NM_015120.4(ALMS1):c.5179C>T (p.Leu1727=) rs373864798
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5202A>G (p.Gln1734=) rs374143515
NM_015120.4(ALMS1):c.5313G>A (p.Gln1771=) rs778267451
NM_015120.4(ALMS1):c.5331T>C (p.Ser1777=) rs745907642
NM_015120.4(ALMS1):c.5350C>T (p.Leu1784=) rs562434013
NM_015120.4(ALMS1):c.5358T>G (p.Val1786=) rs1420283861
NM_015120.4(ALMS1):c.5450A>G (p.Tyr1817Cys) rs780110659
NM_015120.4(ALMS1):c.5460G>A (p.Glu1820=) rs886038613
NM_015120.4(ALMS1):c.5499A>G (p.Arg1833=) rs1572936704
NM_015120.4(ALMS1):c.54G>A (p.Glu18=) rs1553396127
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.5568G>A (p.Glu1856=) rs535259433
NM_015120.4(ALMS1):c.561C>T (p.Asp187=) rs370228166
NM_015120.4(ALMS1):c.5676A>C (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5676A>T (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5783G>A (p.Gly1928Asp) rs886056304
NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) rs370398704
NM_015120.4(ALMS1):c.5831G>A (p.Arg1944His) rs146669152
NM_015120.4(ALMS1):c.594A>G (p.Gln198=) rs373438786
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) rs149096794
NM_015120.4(ALMS1):c.6148T>A (p.Ser2050Thr) rs17848882
NM_015120.4(ALMS1):c.6219A>G (p.Leu2073=) rs754288227
NM_015120.4(ALMS1):c.6282T>C (p.Ser2094=) rs1572937640
NM_015120.4(ALMS1):c.6305C>G (p.Ser2102Trp) rs28730854
NM_015120.4(ALMS1):c.6306G>A (p.Ser2102=) rs555344566
NM_015120.4(ALMS1):c.63G>A (p.Glu21=) rs183407241
NM_015120.4(ALMS1):c.6444A>G (p.Lys2148=) rs776254949
NM_015120.4(ALMS1):c.646+10G>A rs1553399998
NM_015120.4(ALMS1):c.646+8C>G rs760012033
NM_015120.4(ALMS1):c.646+8C>T rs760012033
NM_015120.4(ALMS1):c.647-19_647-18insT rs1553400422
NM_015120.4(ALMS1):c.6498T>C (p.Ala2166=) rs189124891
NM_015120.4(ALMS1):c.650-4A>G rs1553400427
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6546A>G (p.Leu2182=) rs1553404267
NM_015120.4(ALMS1):c.6618A>T (p.Leu2206=) rs375011895
NM_015120.4(ALMS1):c.671C>A (p.Ser224Tyr) rs886038615
NM_015120.4(ALMS1):c.6843T>G (p.Pro2281=) rs45580837
NM_015120.4(ALMS1):c.6969C>T (p.Phe2323=) rs370287018
NM_015120.4(ALMS1):c.7008T>C (p.Asp2336=) rs781592497
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.7128A>G (p.Glu2376=) rs1043215081
NM_015120.4(ALMS1):c.7185G>A (p.Gly2395=) rs1572938646
NM_015120.4(ALMS1):c.720G>A (p.Ala240=) rs373972884
NM_015120.4(ALMS1):c.7284G>A (p.Ser2428=) rs200684911
NM_015120.4(ALMS1):c.7359C>T (p.Pro2453=) rs1290880090
NM_015120.4(ALMS1):c.7476C>T (p.Ser2492=) rs1572938980
NM_015120.4(ALMS1):c.7503C>T (p.Leu2501=) rs751719112
NM_015120.4(ALMS1):c.7540+11A>G rs1553404509
NM_015120.4(ALMS1):c.7540+14T>G rs533780922
NM_015120.4(ALMS1):c.7540+20C>A rs1410444926
NM_015120.4(ALMS1):c.7541-17G>C rs758134188
NM_015120.4(ALMS1):c.7541-19G>A rs1553404624
NM_015120.4(ALMS1):c.7541-8C>T rs1553404629
NM_015120.4(ALMS1):c.7544-6C>T rs1408073039
NM_015120.4(ALMS1):c.75G>A (p.Glu25=) rs1483677896
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.764+14T>C rs1553400457
NM_015120.4(ALMS1):c.764+19A>G rs1035974697
NM_015120.4(ALMS1):c.765-16A>G rs765256601
NM_015120.4(ALMS1):c.7653T>C (p.His2551=) rs756901095
NM_015120.4(ALMS1):c.7656A>T (p.Gly2552=) rs1553404658
NM_015120.4(ALMS1):c.767+9A>T rs551013858
NM_015120.4(ALMS1):c.7674+10A>G rs1553404676
NM_015120.4(ALMS1):c.7675-19G>A rs1399037677
NM_015120.4(ALMS1):c.7677+9G>T rs1046548369
NM_015120.4(ALMS1):c.768-6T>A rs755762723
NM_015120.4(ALMS1):c.7722A>G (p.Val2574=) rs561565809
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.7823C>G (p.Ala2608Gly) rs140223281
NM_015120.4(ALMS1):c.7824T>C (p.Ala2608=) rs1034500469
NM_015120.4(ALMS1):c.786T>C (p.Ser262=) rs1572914265
NM_015120.4(ALMS1):c.7929T>C (p.Val2643=) rs749406009
NM_015120.4(ALMS1):c.7947A>G (p.Leu2649=) rs1407932856
NM_015120.4(ALMS1):c.7979C>G (p.Pro2660Arg) rs537509954
NM_015120.4(ALMS1):c.8034C>T (p.Asp2678=) rs754078506
NM_015120.4(ALMS1):c.8112G>A (p.Pro2704=) rs759983484
NM_015120.4(ALMS1):c.8145C>T (p.Ser2715=) rs1572969339
NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) rs767513098
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.8382G>A (p.Arg2794=) rs559811855
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.8475C>T (p.Pro2825=) rs1467835066
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167
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.864C>T (p.Asp288=) rs377281121
NM_015120.4(ALMS1):c.8724T>C (p.Ser2908=) rs1386201636
NM_015120.4(ALMS1):c.8733T>C (p.His2911=) rs374693631
NM_015120.4(ALMS1):c.8782C>A (p.Arg2928=) rs376244626
NM_015120.4(ALMS1):c.8814T>C (p.Tyr2938=) rs541559170
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.8921C>T (p.Ala2974Val) rs202110907
NM_015120.4(ALMS1):c.8931A>G (p.Val2977=) rs373374154
NM_015120.4(ALMS1):c.8983G>A (p.Val2995Ile) rs45566838
NM_015120.4(ALMS1):c.900G>A (p.Pro300=) rs1296000408
NM_015120.4(ALMS1):c.9021C>T (p.His3007=) rs376757358
NM_015120.4(ALMS1):c.9141T>C (p.Cys3047=) rs779818117
NM_015120.4(ALMS1):c.9183T>C (p.Asp3061=) rs1572970568
NM_015120.4(ALMS1):c.9255C>T (p.Asn3085=) rs1237573573
NM_015120.4(ALMS1):c.9279G>A (p.Ser3093=) rs1462656920
NM_015120.4(ALMS1):c.9324A>G (p.Val3108=) rs371108940
NM_015120.4(ALMS1):c.9363A>G (p.Lys3121=) rs368408369
NM_015120.4(ALMS1):c.9384C>T (p.Val3128=) rs754743943
NM_015120.4(ALMS1):c.9387A>G (p.Val3129=) rs752453102
NM_015120.4(ALMS1):c.9483G>A (p.Val3161=) rs752405413
NM_015120.4(ALMS1):c.9539+10_9539+12del rs1572970962
NM_015120.4(ALMS1):c.9539+13G>C rs369860432
NM_015120.4(ALMS1):c.9539+20C>T rs759559244
NM_015120.4(ALMS1):c.9540-16del rs765235024
NM_015120.4(ALMS1):c.9541C>G (p.Arg3181Gly) rs563393715
NM_015120.4(ALMS1):c.9542+10A>G rs1553409904
NM_015120.4(ALMS1):c.9603A>C (p.Ala3201=) rs113808259
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.9636G>A (p.Lys3212=) rs373013570
NM_015120.4(ALMS1):c.9639C>T (p.Thr3213=) rs749283920
NM_015120.4(ALMS1):c.9642A>G (p.Leu3214=) rs566943393
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9780A>C (p.Thr3260=) rs183325464
NM_015120.4(ALMS1):c.9781+11G>A rs970258030
NM_015120.4(ALMS1):c.9781+19A>C rs895296631
NM_015120.4(ALMS1):c.9782-18T>C rs995894081
NM_015120.4(ALMS1):c.9785-6C>T rs1414733616
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015120.4(ALMS1):c.9837T>C (p.Tyr3279=) rs1573000972
NM_015120.4(ALMS1):c.9846A>G (p.Gln3282=) rs1573000980
NM_015120.4(ALMS1):c.9855A>G (p.Gln3285=) rs1558684497
NM_015120.4(ALMS1):c.9864A>G (p.Pro3288=) rs114687298
NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9888C>T (p.Thr3296=) rs1455531770
NM_015120.4(ALMS1):c.9891C>T (p.Thr3297=) rs372451785
NM_015120.4(ALMS1):c.9900C>T (p.Ser3300=) rs1217540541
NM_015120.4(ALMS1):c.9907+14A>G rs1402624178
NM_015120.4(ALMS1):c.9907+17A>C rs772675597
NM_015120.4(ALMS1):c.9907+17A>G rs772675597
NM_015120.4(ALMS1):c.9907+20C>A rs74730457
NM_015120.4(ALMS1):c.9910+7T>G rs375870610
NM_015120.4(ALMS1):c.9911-12G>A rs376627151
NM_015120.4(ALMS1):c.9911-13C>T rs373325114
NM_015120.4(ALMS1):c.991C>T (p.Leu331=) rs187880759
NM_015120.4(ALMS1):c.999T>C (p.Ile333=) rs760947833

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