ClinVar Miner

List of variants studied for Alstrom syndrome by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 1460
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HGVS dbSNP
NC_000002.11:g.(?_73114549)_(73836749_?)dup
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73651548)_(73653691_?)dup
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73678717_73689164del
NC_000002.11:g.(?_73679790_73710618del
NC_000002.11:g.(?_73682279)_(73682432_?)dup
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)dup
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73760681_73762027del
NC_000002.11:g.(?_73760681_73762028del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NC_000002.12:g.(?_73603231)_(73609622_?)del
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=) rs746166271
NM_001378454.1(ALMS1):c.10023A>G (p.Val3341=) rs770072519
NM_001378454.1(ALMS1):c.10030A>G (p.Lys3344Glu)
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=) rs375436336
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.1006T>C (p.Cys336Arg) rs746923506
NM_001378454.1(ALMS1):c.10078+10T>C rs752454047
NM_001378454.1(ALMS1):c.10078+7G>A
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605
NM_001378454.1(ALMS1):c.10086A>G (p.Ser3362=) rs747033366
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131
NM_001378454.1(ALMS1):c.10148G>A (p.Ser3383Asn) rs1553416873
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser) rs145678202
NM_001378454.1(ALMS1):c.10179T>C (p.Ala3393=)
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10213+7A>G rs1553416882
NM_001378454.1(ALMS1):c.10214-4G>A
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=) rs754938453
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459
NM_001378454.1(ALMS1):c.10241A>G (p.His3414Arg)
NM_001378454.1(ALMS1):c.10251A>G (p.Gln3417=)
NM_001378454.1(ALMS1):c.10263A>G (p.Pro3421=)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10292_10293insT (p.Ile3432fs)
NM_001378454.1(ALMS1):c.102G>C (p.Ala34=) rs1574423870
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195
NM_001378454.1(ALMS1):c.10313T>C (p.Ile3438Thr)
NM_001378454.1(ALMS1):c.10317T>C (p.His3439=)
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722
NM_001378454.1(ALMS1):c.1032A>G (p.Ser344=) rs376519124
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=) rs78108069
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
NM_001378454.1(ALMS1):c.10362A>G (p.Glu3454=)
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10385-2A>G
NM_001378454.1(ALMS1):c.10385-7T>A
NM_001378454.1(ALMS1):c.10389C>T (p.Ser3463=) rs760299487
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491
NM_001378454.1(ALMS1):c.10404A>G (p.Glu3468=)
NM_001378454.1(ALMS1):c.1041A>G (p.Ser347=) rs1553400737
NM_001378454.1(ALMS1):c.10440A>G (p.Ala3480=)
NM_001378454.1(ALMS1):c.10460C>T (p.Pro3487Leu)
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858
NM_001378454.1(ALMS1):c.10470A>G (p.Leu3490=)
NM_001378454.1(ALMS1):c.1047G>A (p.Lys349=)
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348
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.1051C>T (p.Arg351Ter) rs1275113273
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
NM_001378454.1(ALMS1):c.10566T>C (p.His3522=)
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr)
NM_001378454.1(ALMS1):c.10575C>A (p.His3525Gln)
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=) rs1470146152
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
NM_001378454.1(ALMS1):c.10620A>G (p.Thr3540=)
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819
NM_001378454.1(ALMS1):c.10643T>A (p.Leu3548His)
NM_001378454.1(ALMS1):c.10651A>G (p.Asn3551Asp) rs200992340
NM_001378454.1(ALMS1):c.1065G>A (p.Gln355=)
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs) rs1573030204
NM_001378454.1(ALMS1):c.10685C>G (p.Thr3562Ser)
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser) rs758987316
NM_001378454.1(ALMS1):c.1071T>C (p.Pro357=)
NM_001378454.1(ALMS1):c.10723G>A (p.Gly3575Arg) rs752099349
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro) rs200467041
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398
NM_001378454.1(ALMS1):c.10792T>C (p.Leu3598=)
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10803G>A (p.Leu3601=)
NM_001378454.1(ALMS1):c.10812G>A (p.Lys3604=)
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795
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.10856A>G (p.Asp3619Gly)
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=) rs201598829
NM_001378454.1(ALMS1):c.10866A>G (p.Glu3622=) rs377601961
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.10923A>G (p.Thr3641=)
NM_001378454.1(ALMS1):c.10930C>G (p.Leu3644Val) rs1060500033
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720
NM_001378454.1(ALMS1):c.10966G>A (p.Gly3656Arg)
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=) rs1439789927
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu) rs887270267
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.11004G>A (p.Gln3668=)
NM_001378454.1(ALMS1):c.11006A>G (p.Gln3669Arg) rs773767346
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247
NM_001378454.1(ALMS1):c.11025A>G (p.Lys3675=)
NM_001378454.1(ALMS1):c.11028G>A (p.Lys3676=)
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del) rs757734472
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11064T>C (p.Asn3688=)
NM_001378454.1(ALMS1):c.11070C>A (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968
NM_001378454.1(ALMS1):c.11118T>C (p.Ser3706=)
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11145A>G (p.Lys3715=) rs1573030809
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
NM_001378454.1(ALMS1):c.111G>T (p.Val37=)
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498
NM_001378454.1(ALMS1):c.11214G>T (p.Arg3738=)
NM_001378454.1(ALMS1):c.11219C>T (p.Ser3740Leu)
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289
NM_001378454.1(ALMS1):c.11263T>A (p.Ser3755Thr) rs878854995
NM_001378454.1(ALMS1):c.11265C>T (p.Ser3755=)
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.1126A>C (p.Thr376Pro) rs376750978
NM_001378454.1(ALMS1):c.1126A>T (p.Thr376Ser) rs376750978
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=)
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452
NM_001378454.1(ALMS1):c.1128T>C (p.Thr376=)
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11322T>C (p.Ala3774=)
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11325G>C (p.Leu3775=) rs1573031104
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys) rs565098671
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly) rs773130069
NM_001378454.1(ALMS1):c.11334G>A (p.Arg3778=)
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
NM_001378454.1(ALMS1):c.11370G>T (p.Leu3790=)
NM_001378454.1(ALMS1):c.11379T>C (p.Ala3793=) rs377090880
NM_001378454.1(ALMS1):c.11392A>G (p.Arg3798Gly)
NM_001378454.1(ALMS1):c.11397A>G (p.Val3799=)
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
NM_001378454.1(ALMS1):c.11400C>T (p.Cys3800=)
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr) rs201028172
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11422T>C (p.Leu3808=)
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849
NM_001378454.1(ALMS1):c.11460T>A (p.Leu3820=)
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg) rs549156484
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=)
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114
NM_001378454.1(ALMS1):c.11541C>T (p.His3847=)
NM_001378454.1(ALMS1):c.11546A>G (p.Gln3849Arg)
NM_001378454.1(ALMS1):c.11547+7G>A
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573
NM_001378454.1(ALMS1):c.11548-5T>C
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
NM_001378454.1(ALMS1):c.11574C>T (p.Asp3858=) rs561636004
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966
NM_001378454.1(ALMS1):c.11586T>G (p.Ser3862=)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262
NM_001378454.1(ALMS1):c.11610A>G (p.Ser3870=) rs188172095
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.1161T>C (p.His387=) rs191091347
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=)
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs) rs1573052379
NM_001378454.1(ALMS1):c.11662C>G (p.Gln3888Glu)
NM_001378454.1(ALMS1):c.11668+9T>C
NM_001378454.1(ALMS1):c.11669-2A>G
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser) rs369008610
NM_001378454.1(ALMS1):c.11706T>C (p.Thr3902=)
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771
NM_001378454.1(ALMS1):c.11709A>C (p.Arg3903=)
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11715T>C (p.Val3905=)
NM_001378454.1(ALMS1):c.11715T>G (p.Val3905=)
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs) rs1573053412
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182
NM_001378454.1(ALMS1):c.11733T>C (p.Thr3911=)
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg) rs776963509
NM_001378454.1(ALMS1):c.11742C>T (p.Ser3914=) rs374909171
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340
NM_001378454.1(ALMS1):c.1174C>A (p.Arg392Ser) rs3813227
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys) rs3813227
NM_001378454.1(ALMS1):c.11755T>C (p.Leu3919=) rs750372739
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=) rs201924342
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
NM_001378454.1(ALMS1):c.11799T>A (p.Arg3933=)
NM_001378454.1(ALMS1):c.1179A>C (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.1179A>G (p.Ser393=)
NM_001378454.1(ALMS1):c.1179A>T (p.Ser393=) rs765376715
NM_001378454.1(ALMS1):c.117C>T (p.Asp39=)
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=) rs565546868
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
NM_001378454.1(ALMS1):c.11854A>C (p.Lys3952Gln)
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=)
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg) rs553786370
NM_001378454.1(ALMS1):c.11868T>C (p.His3956=) rs370489767
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347
NM_001378454.1(ALMS1):c.11872+7T>A rs763235048
NM_001378454.1(ALMS1):c.11873-12T>C rs1320374
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg)
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer)
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.11939C>T (p.Thr3980Ile) rs200568988
NM_001378454.1(ALMS1):c.11940T>A (p.Thr3980=)
NM_001378454.1(ALMS1):c.11940T>C (p.Thr3980=)
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850
NM_001378454.1(ALMS1):c.11958C>T (p.Ser3986=)
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962
NM_001378454.1(ALMS1):c.11991G>A (p.Trp3997Ter) rs1553421725
NM_001378454.1(ALMS1):c.11994G>A (p.Arg3998=)
NM_001378454.1(ALMS1):c.11997G>A (p.Glu3999=)
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289
NM_001378454.1(ALMS1):c.12006G>A (p.Arg4002=) rs1573054242
NM_001378454.1(ALMS1):c.12031C>T (p.Leu4011=)
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=) rs370981817
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734
NM_001378454.1(ALMS1):c.12048C>T (p.Tyr4016=)
NM_001378454.1(ALMS1):c.12054A>G (p.Ala4018=)
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro) rs372910832
NM_001378454.1(ALMS1):c.12087G>A (p.Leu4029=)
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys) rs1052161
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.12108C>G (p.Thr4036=) rs767174517
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489
NM_001378454.1(ALMS1):c.12114+5_12114+66dup
NM_001378454.1(ALMS1):c.12115-2A>T
NM_001378454.1(ALMS1):c.12115-7C>T
NM_001378454.1(ALMS1):c.12115-8del
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp) rs1016477755
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)
NM_001378454.1(ALMS1):c.12131A>C (p.His4044Pro)
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
NM_001378454.1(ALMS1):c.12142T>A (p.Phe4048Ile)
NM_001378454.1(ALMS1):c.12147C>T (p.Ile4049=) rs374328093
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle)
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698
NM_001378454.1(ALMS1):c.12165G>A (p.Arg4055=)
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400
NM_001378454.1(ALMS1):c.12174C>T (p.Arg4058=) rs377661858
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=) rs1052162
NM_001378454.1(ALMS1):c.12177G>T (p.Leu4059=) rs1573055527
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
NM_001378454.1(ALMS1):c.12219G>T (p.Gln4073His) rs878854996
NM_001378454.1(ALMS1):c.12222C>T (p.Thr4074=) rs199638718
NM_001378454.1(ALMS1):c.12234A>C (p.Ala4078=)
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12237A>G (p.Leu4079=)
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465
NM_001378454.1(ALMS1):c.1227A>C (p.Thr409=)
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331
NM_001378454.1(ALMS1):c.12285G>A (p.Pro4095=) rs776912137
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=) rs776912137
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.12298+5G>A rs371853987
NM_001378454.1(ALMS1):c.12298+7C>T rs1252100215
NM_001378454.1(ALMS1):c.12299-2A>G
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399
NM_001378454.1(ALMS1):c.12321C>T (p.Asn4107=) rs767420244
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=) rs546745992
NM_001378454.1(ALMS1):c.12362+16_12362+17del
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933
NM_001378454.1(ALMS1):c.12362+7C>A
NM_001378454.1(ALMS1):c.12363-18A>C
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.1237+2T>C rs916056435
NM_001378454.1(ALMS1):c.1237+4A>G
NM_001378454.1(ALMS1):c.1237+8C>A rs771449454
NM_001378454.1(ALMS1):c.1237+9C>T rs201471551
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
NM_001378454.1(ALMS1):c.1238-5T>C
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
NM_001378454.1(ALMS1):c.123_124delinsCA (p.Val42Ile)
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.12438G>T (p.Arg4146=) rs35902379
NM_001378454.1(ALMS1):c.12447C>T (p.Ala4149=) rs374020124
NM_001378454.1(ALMS1):c.12456T>C (p.Tyr4152=)
NM_001378454.1(ALMS1):c.12463-4A>G rs755283383
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg) rs777072028
NM_001378454.1(ALMS1):c.1266C>T (p.Asp422=)
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557
NM_001378454.1(ALMS1):c.126C>T (p.Val42=)
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
NM_001378454.1(ALMS1):c.1272T>C (p.Ile424=) rs544932125
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.1339-3A>C rs572922738
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
NM_001378454.1(ALMS1):c.1353G>A (p.Ser451=) rs370873335
NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)
NM_001378454.1(ALMS1):c.1381T>C (p.Leu461=)
NM_001378454.1(ALMS1):c.1386G>A (p.Arg462=) rs749794703
NM_001378454.1(ALMS1):c.1395T>C (p.Pro465=)
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461
NM_001378454.1(ALMS1):c.1423T>C (p.Leu475=)
NM_001378454.1(ALMS1):c.1425A>G (p.Leu475=)
NM_001378454.1(ALMS1):c.1432+2T>A
NM_001378454.1(ALMS1):c.1432+2_1432+15del rs1203193062
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962
NM_001378454.1(ALMS1):c.1432+7A>G rs1468328132
NM_001378454.1(ALMS1):c.1436A>G (p.Asp479Gly)
NM_001378454.1(ALMS1):c.1437C>T (p.Asp479=) rs372610345
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=)
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn)
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=) rs769982352
NM_001378454.1(ALMS1):c.1473C>G (p.Ser491=)
NM_001378454.1(ALMS1):c.1497C>T (p.Thr499=)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
NM_001378454.1(ALMS1):c.150G>C (p.Ala50=)
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377
NM_001378454.1(ALMS1):c.1520G>C (p.Gly507Ala) rs1553403257
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052
NM_001378454.1(ALMS1):c.1557G>A (p.Gln519=) rs764869245
NM_001378454.1(ALMS1):c.1566A>G (p.Val522=) rs1411790516
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del) rs34628045
NM_001378454.1(ALMS1):c.1574_1576= (p.Pro525_Leu526=)
NM_001378454.1(ALMS1):c.1578A>G (p.Leu526=)
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721
NM_001378454.1(ALMS1):c.1623A>G (p.Thr541=)
NM_001378454.1(ALMS1):c.162G>A (p.Leu54=)
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala)
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val) rs1451493287
NM_001378454.1(ALMS1):c.1641A>C (p.Leu547=)
NM_001378454.1(ALMS1):c.168C>T (p.Ser56=)
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn)
NM_001378454.1(ALMS1):c.1700C>G (p.Thr567Arg)
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
NM_001378454.1(ALMS1):c.1710A>C (p.Val570=) rs201095989
NM_001378454.1(ALMS1):c.1731T>C (p.His577=) rs768761501
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179
NM_001378454.1(ALMS1):c.1734G>A (p.Arg578=) rs1027908105
NM_001378454.1(ALMS1):c.1740G>A (p.Lys580=)
NM_001378454.1(ALMS1):c.1743C>T (p.Pro581=)
NM_001378454.1(ALMS1):c.1758G>A (p.Gln586=) rs377037998
NM_001378454.1(ALMS1):c.1761G>C (p.Gln587His) rs1553403313
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=) rs369744185
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.1816G>A (p.Gly606Arg)
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter) rs1553403321
NM_001378454.1(ALMS1):c.1821A>T (p.Leu607=)
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)
NM_001378454.1(ALMS1):c.1836T>C (p.Thr612=)
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591
NM_001378454.1(ALMS1):c.183G>A (p.Gly61=)
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387
NM_001378454.1(ALMS1):c.1859C>G (p.Thr620Ser)
NM_001378454.1(ALMS1):c.1863C>A (p.Ser621=)
NM_001378454.1(ALMS1):c.1866C>T (p.Tyr622=) rs1474922476
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=) rs373831151
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344
NM_001378454.1(ALMS1):c.1887T>C (p.Gly629=)
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
NM_001378454.1(ALMS1):c.1926C>T (p.Thr642=) rs745591025
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
NM_001378454.1(ALMS1):c.193C>T (p.Leu65=)
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=) rs1572931748
NM_001378454.1(ALMS1):c.1965G>A (p.Val655=) rs1553403345
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401
NM_001378454.1(ALMS1):c.1989A>G (p.Thr663=)
NM_001378454.1(ALMS1):c.1992A>G (p.Val664=) rs894774935
NM_001378454.1(ALMS1):c.1998T>C (p.Ser666=)
NM_001378454.1(ALMS1):c.199A>C (p.Ser67Arg)
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn) rs776932244
NM_001378454.1(ALMS1):c.2012A>G (p.His671Arg)
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) rs2037814
NM_001378454.1(ALMS1):c.2022C>T (p.Asp674=) rs374151754
NM_001378454.1(ALMS1):c.2034C>T (p.Phe678=)
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=) rs1572931934
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala) rs201804994
NM_001378454.1(ALMS1):c.2067T>C (p.Thr689=)
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=) rs1320005523
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
NM_001378454.1(ALMS1):c.2093_2107del (p.Val698_Ala702del)
NM_001378454.1(ALMS1):c.2094G>A (p.Val698=) rs200535382
NM_001378454.1(ALMS1):c.2094G>T (p.Val698=) rs200535382
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2100A>G (p.Gly700=)
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630
NM_001378454.1(ALMS1):c.2106T>A (p.Ala702=)
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
NM_001378454.1(ALMS1):c.2121G>A (p.Gly707=)
NM_001378454.1(ALMS1):c.2121G>T (p.Gly707=) rs878854997
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala) rs367641723
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2151A>G (p.Ser717=)
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=) rs536950181
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.2196C>T (p.Asp732=) rs754758293
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu) rs905373886
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=)
NM_001378454.1(ALMS1):c.21A>G (p.Pro7=)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
NM_001378454.1(ALMS1):c.2207_2299del (p.Thr736_Gln766del)
NM_001378454.1(ALMS1):c.2217T>G (p.Thr739=)
NM_001378454.1(ALMS1):c.2218del (p.Thr741fs)
NM_001378454.1(ALMS1):c.2222C>T (p.Thr741Ile)
NM_001378454.1(ALMS1):c.2223T>C (p.Thr741=)
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs) rs1572932377
NM_001378454.1(ALMS1):c.2271A>G (p.Pro757=)
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.228C>G (p.Ala76=)
NM_001378454.1(ALMS1):c.228C>T (p.Ala76=)
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=) rs28730851
NM_001378454.1(ALMS1):c.231G>A (p.Lys77=)
NM_001378454.1(ALMS1):c.2337A>G (p.Ala779=)
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880
NM_001378454.1(ALMS1):c.2370T>G (p.Val790=)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.2443G>A (p.Glu815Lys)
NM_001378454.1(ALMS1):c.2463C>T (p.Tyr821=)
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=)
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850
NM_001378454.1(ALMS1):c.2481C>T (p.Asp827=) rs748371743
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=) rs561060460
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=) rs765949316
NM_001378454.1(ALMS1):c.2535C>G (p.Asp845Glu) rs77517267
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998
NM_001378454.1(ALMS1):c.2540A>G (p.Lys847Arg)
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
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.2592A>G (p.Gly864=) rs1553403535
NM_001378454.1(ALMS1):c.2598G>A (p.Lys866=)
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172
NM_001378454.1(ALMS1):c.2604T>C (p.Ser868=)
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580
NM_001378454.1(ALMS1):c.2636A>G (p.His879Arg)
NM_001378454.1(ALMS1):c.2637T>C (p.His879=)
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696
NM_001378454.1(ALMS1):c.2665A>G (p.Ile889Val) rs377282102
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu) rs989191437
NM_001378454.1(ALMS1):c.2673T>C (p.Pro891=)
NM_001378454.1(ALMS1):c.2678C>T (p.Pro893Leu)
NM_001378454.1(ALMS1):c.2679A>G (p.Pro893=)
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
NM_001378454.1(ALMS1):c.2688G>A (p.Gln896=)
NM_001378454.1(ALMS1):c.2695G>A (p.Gly899Arg)
NM_001378454.1(ALMS1):c.2721C>T (p.Phe907=)
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.2730C>T (p.His910=) rs189923349
NM_001378454.1(ALMS1):c.2739G>A (p.Lys913=)
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn) rs373378385
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro)
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319
NM_001378454.1(ALMS1):c.279C>G (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.279C>T (p.Pro93=) rs770203539
NM_001378454.1(ALMS1):c.2817A>G (p.Val939=) rs376517753
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
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.2880A>G (p.Lys960=) rs1238528749
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
NM_001378454.1(ALMS1):c.2922A>G (p.Leu974=)
NM_001378454.1(ALMS1):c.2922A>T (p.Leu974=) rs199769789
NM_001378454.1(ALMS1):c.2925T>C (p.Pro975=) rs751486678
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.2961G>A (p.Leu987=) rs745503022
NM_001378454.1(ALMS1):c.2979C>T (p.Val993=)
NM_001378454.1(ALMS1):c.2983A>G (p.Thr995Ala) rs776162820
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter) rs1254495717
NM_001378454.1(ALMS1):c.2997T>G (p.Pro999=)
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val) rs773630367
NM_001378454.1(ALMS1):c.3009C>T (p.Phe1003=) rs1572933379
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn)
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3057T>C (p.Asp1019=)
NM_001378454.1(ALMS1):c.3067A>G (p.Thr1023Ala) rs1553403605
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp)
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr)
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro)
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.3102A>T (p.Gly1034=)
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
NM_001378454.1(ALMS1):c.3138G>A (p.Gln1046=)
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=) rs754611450
NM_001378454.1(ALMS1):c.316C>T (p.Leu106=)
NM_001378454.1(ALMS1):c.3177G>A (p.Leu1059=)
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852
NM_001378454.1(ALMS1):c.3207A>T (p.Leu1069=)
NM_001378454.1(ALMS1):c.3234C>A (p.Ala1078=)
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
NM_001378454.1(ALMS1):c.324+10G>C rs778690416
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598
NM_001378454.1(ALMS1):c.325-6T>C rs760582213
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.325-8A>G rs200740825
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
NM_001378454.1(ALMS1):c.3266C>A (p.Thr1089Lys)
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val) rs1402063104
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596
NM_001378454.1(ALMS1):c.3291C>T (p.Tyr1097=)
NM_001378454.1(ALMS1):c.3292T>C (p.Ser1098Pro) rs1553403651
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268
NM_001378454.1(ALMS1):c.3312T>A (p.Gly1104=)
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala) rs368354870
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
NM_001378454.1(ALMS1):c.3330C>T (p.Thr1110=) rs749570443
NM_001378454.1(ALMS1):c.3336A>G (p.Pro1112=)
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619
NM_001378454.1(ALMS1):c.338C>T (p.Thr113Ile) rs1417754706
NM_001378454.1(ALMS1):c.3399G>A (p.Lys1133=) rs376683428
NM_001378454.1(ALMS1):c.339C>T (p.Thr113=)
NM_001378454.1(ALMS1):c.33G>A (p.Glu11=)
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768
NM_001378454.1(ALMS1):c.3414T>C (p.Thr1138=)
NM_001378454.1(ALMS1):c.345T>C (p.His115=) rs1572904510
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.348A>G (p.Val116=)
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
NM_001378454.1(ALMS1):c.3501G>A (p.Glu1167=)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
NM_001378454.1(ALMS1):c.3510A>C (p.Lys1170Asn)
NM_001378454.1(ALMS1):c.3516A>G (p.Ser1172=)
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=) rs531782624
NM_001378454.1(ALMS1):c.3555A>C (p.Pro1185=)
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613
NM_001378454.1(ALMS1):c.3561A>G (p.Val1187=)
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg) rs371516347
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu) rs200636395
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358
NM_001378454.1(ALMS1):c.3654T>A (p.Val1218=)
NM_001378454.1(ALMS1):c.3675T>C (p.Ala1225=)
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046
NM_001378454.1(ALMS1):c.3696A>G (p.Pro1232=)
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[18] (p.Glu24_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.3723C>T (p.His1241=)
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln) rs372620412
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994
NM_001378454.1(ALMS1):c.3734C>T (p.Pro1245Leu) rs1558648928
NM_001378454.1(ALMS1):c.3762A>G (p.Pro1254=)
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly) rs773586990
NM_001378454.1(ALMS1):c.3799G>A (p.Val1267Ile) rs770278707
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
NM_001378454.1(ALMS1):c.3825A>G (p.Thr1275=) rs1553403752
NM_001378454.1(ALMS1):c.3833C>T (p.Thr1278Ile)
NM_001378454.1(ALMS1):c.3852T>C (p.Thr1284=)
NM_001378454.1(ALMS1):c.3867T>C (p.Tyr1289=) rs369314182
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter) rs369314182
NM_001378454.1(ALMS1):c.387A>G (p.Gln129=)
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) rs373835067
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360
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.392C>A (p.Ser131Tyr)
NM_001378454.1(ALMS1):c.3936T>C (p.Asn1312=)
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138
NM_001378454.1(ALMS1):c.3948T>G (p.Val1316=)
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile)
NM_001378454.1(ALMS1):c.4008C>T (p.His1336=)
NM_001378454.1(ALMS1):c.4020T>C (p.Pro1340=)
NM_001378454.1(ALMS1):c.4022G>A (p.Gly1341Asp)
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr) rs1005994594
NM_001378454.1(ALMS1):c.4057C>T (p.Pro1353Ser)
NM_001378454.1(ALMS1):c.4059A>G (p.Pro1353=)
NM_001378454.1(ALMS1):c.4071T>G (p.Ala1357=) rs1572934855
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758
NM_001378454.1(ALMS1):c.4140T>C (p.Ser1380=) rs1362041238
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu) rs377354387
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.4173C>A (p.Phe1391Leu)
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=) rs6546836
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171
NM_001378454.1(ALMS1):c.4185G>A (p.Ser1395=) rs758814503
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720
NM_001378454.1(ALMS1):c.4230G>A (p.Ala1410=)
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala) rs6546837
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln) rs771362238
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser) rs746145270
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781
NM_001378454.1(ALMS1):c.4288T>G (p.Ser1430Ala)
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=)
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639
NM_001378454.1(ALMS1):c.432G>A (p.Arg144=) rs772143925
NM_001378454.1(ALMS1):c.4333C>T (p.His1445Tyr)
NM_001378454.1(ALMS1):c.4341T>C (p.His1447=) rs770081169
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890
NM_001378454.1(ALMS1):c.4347T>C (p.Pro1449=)
NM_001378454.1(ALMS1):c.4357T>C (p.Leu1453=) rs879109152
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
NM_001378454.1(ALMS1):c.4383A>G (p.Pro1461=)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4398T>A (p.Ile1466=)
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263
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.442G>A (p.Asp148Asn)
NM_001378454.1(ALMS1):c.4437A>G (p.Gly1479=)
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
NM_001378454.1(ALMS1):c.4458C>T (p.Tyr1486=)
NM_001378454.1(ALMS1):c.4464G>A (p.Gln1488=) rs770845249
NM_001378454.1(ALMS1):c.4470T>C (p.Phe1490=)
NM_001378454.1(ALMS1):c.450+2T>C
NM_001378454.1(ALMS1):c.450+7C>A rs775200355
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.451-5T>G rs774098604
NM_001378454.1(ALMS1):c.4527T>C (p.Val1509=)
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4543G>A (p.Ala1515Thr) rs183839621
NM_001378454.1(ALMS1):c.4545A>G (p.Ala1515=)
NM_001378454.1(ALMS1):c.4565C>G (p.Ser1522Cys) rs1060500036
NM_001378454.1(ALMS1):c.4584A>C (p.Ala1528=)
NM_001378454.1(ALMS1):c.4587G>A (p.Lys1529=)
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys)
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929
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.4647A>G (p.Arg1549=) rs564445910
NM_001378454.1(ALMS1):c.4659T>G (p.Ala1553=)
NM_001378454.1(ALMS1):c.4678A>G (p.Thr1560Ala) rs1558649606
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.4715C>G (p.Ser1572Ter)
NM_001378454.1(ALMS1):c.471T>C (p.Cys157=) rs367648094
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
NM_001378454.1(ALMS1):c.4749G>A (p.Gln1583=)
NM_001378454.1(ALMS1):c.4758A>G (p.Pro1586=) rs778600773
NM_001378454.1(ALMS1):c.4761T>C (p.Asp1587=) rs747858041
NM_001378454.1(ALMS1):c.4770A>T (p.Leu1590=)
NM_001378454.1(ALMS1):c.477T>A (p.Pro159=)
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
NM_001378454.1(ALMS1):c.4824T>G (p.Thr1608=)
NM_001378454.1(ALMS1):c.4827C>T (p.Asp1609=) rs371708421
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965
NM_001378454.1(ALMS1):c.486G>T (p.Met162Ile)
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp) rs201874722
NM_001378454.1(ALMS1):c.4893T>C (p.Ala1631=)
NM_001378454.1(ALMS1):c.4899A>G (p.Leu1633=) rs1060503816
NM_001378454.1(ALMS1):c.4902C>T (p.Asp1634=) rs1553403951
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.4920G>A (p.Glu1640=) rs1572935943
NM_001378454.1(ALMS1):c.492T>C (p.Ser164=)
NM_001378454.1(ALMS1):c.4938T>G (p.Ala1646=) rs767547246
NM_001378454.1(ALMS1):c.495C>T (p.Ser165=)
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.4976C>A (p.Pro1659Gln) rs199520788
NM_001378454.1(ALMS1):c.4980A>G (p.Val1660=)
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys)
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836
NM_001378454.1(ALMS1):c.5007G>A (p.Gly1669=)
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)
NM_001378454.1(ALMS1):c.5025C>T (p.Tyr1675=)
NM_001378454.1(ALMS1):c.5035C>T (p.Leu1679=)
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser) rs764039432
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.5129G>C (p.Ser1710Thr)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=)
NM_001378454.1(ALMS1):c.5142T>C (p.Tyr1714=)
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
NM_001378454.1(ALMS1):c.5155A>G (p.Ile1719Val) rs1438158545
NM_001378454.1(ALMS1):c.5163C>T (p.Phe1721=)
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=) rs75434052
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His)
NM_001378454.1(ALMS1):c.5173G>A (p.Ala1725Thr)
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
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.5189A>G (p.Glu1730Gly) rs201390755
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile)
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter) rs750136202
NM_001378454.1(ALMS1):c.519T>A (p.Thr173=)
NM_001378454.1(ALMS1):c.519T>C (p.Thr173=)
NM_001378454.1(ALMS1):c.51G>A (p.Glu17=) rs1553396127
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188
NM_001378454.1(ALMS1):c.5253A>G (p.Leu1751=)
NM_001378454.1(ALMS1):c.5256T>A (p.Ser1752=)
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys) rs761486372
NM_001378454.1(ALMS1):c.5272T>G (p.Phe1758Val)
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447
NM_001378454.1(ALMS1):c.5280A>G (p.Ser1760=)
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu) rs760251120
NM_001378454.1(ALMS1):c.5292G>A (p.Lys1764=)
NM_001378454.1(ALMS1):c.5297A>G (p.Asn1766Ser) rs192863498
NM_001378454.1(ALMS1):c.5298T>C (p.Asn1766=)
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5323G>C (p.Asp1775His) rs747341054
NM_001378454.1(ALMS1):c.5328T>C (p.Ser1776=) rs745907642
NM_001378454.1(ALMS1):c.5332C>T (p.Leu1778=)
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp)
NM_001378454.1(ALMS1):c.5347C>T (p.Leu1783=) rs562434013
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.537G>A (p.Thr179=)
NM_001378454.1(ALMS1):c.5390G>C (p.Gly1797Ala)
NM_001378454.1(ALMS1):c.5394A>G (p.Val1798=)
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr) rs1572936601
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) rs1572936704
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu)
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698
NM_001378454.1(ALMS1):c.5541C>G (p.Pro1847=)
NM_001378454.1(ALMS1):c.5556A>G (p.Pro1852=) rs372017680
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
NM_001378454.1(ALMS1):c.5565G>A (p.Glu1855=) rs535259433
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp) rs777664567
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His)
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys)
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter) rs769440001
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166
NM_001378454.1(ALMS1):c.5595G>A (p.Leu1865=)
NM_001378454.1(ALMS1):c.5597C>T (p.Pro1866Leu)
NM_001378454.1(ALMS1):c.55G>A (p.Glu19Lys) rs939208094
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs) rs1439541639
NM_001378454.1(ALMS1):c.5625A>G (p.Ala1875=)
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val) rs6546838
NM_001378454.1(ALMS1):c.5673A>C (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=) rs1572936907
NM_001378454.1(ALMS1):c.568C>A (p.Leu190Met) rs375838474
NM_001378454.1(ALMS1):c.5714T>G (p.Phe1905Cys) rs1553404125
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu)
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs) rs763048583
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter) rs1574423697
NM_001378454.1(ALMS1):c.5820C>T (p.Tyr1940=)
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser) rs370398704
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His) rs146669152
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
NM_001378454.1(ALMS1):c.5841C>T (p.Pro1947=)
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446
NM_001378454.1(ALMS1):c.5843G>T (p.Ser1948Ile)
NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln)
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472
NM_001378454.1(ALMS1):c.588G>A (p.Thr196=)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694
NM_001378454.1(ALMS1):c.5904_5912del (p.Pro1969_Ser1971del) rs1060500042
NM_001378454.1(ALMS1):c.591A>G (p.Gln197=) rs373438786
NM_001378454.1(ALMS1):c.5935G>A (p.Gly1979Arg)
NM_001378454.1(ALMS1):c.5937G>C (p.Gly1979=)
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly) rs1553399974
NM_001378454.1(ALMS1):c.5979A>G (p.Lys1993=)
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=)
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660
NM_001378454.1(ALMS1):c.5994T>A (p.Ile1998=)
NM_001378454.1(ALMS1):c.6003G>T (p.Val2001=)
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu) rs376989302
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
NM_001378454.1(ALMS1):c.6054C>G (p.Ser2018=)
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg) rs369339997
NM_001378454.1(ALMS1):c.6075C>A (p.Pro2025=)
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu) rs191286546
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794
NM_001378454.1(ALMS1):c.6087T>C (p.Thr2029=)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241
NM_001378454.1(ALMS1):c.6117A>G (p.Pro2039=)
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr) rs17848882
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6180G>A (p.Gln2060=)
NM_001378454.1(ALMS1):c.6183G>C (p.Gln2061His) rs200041852
NM_001378454.1(ALMS1):c.61del (p.Glu21fs) rs753006733
NM_001378454.1(ALMS1):c.6201A>G (p.Gln2067=)
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr) rs10496192
NM_001378454.1(ALMS1):c.6213T>C (p.Ile2071=)
NM_001378454.1(ALMS1):c.6219G>A (p.Lys2073=)
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys) rs758696535
NM_001378454.1(ALMS1):c.6267A>C (p.Val2089=)
NM_001378454.1(ALMS1):c.6267A>G (p.Val2089=)
NM_001378454.1(ALMS1):c.6279T>C (p.Ser2093=) rs1572937640
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.6303G>A (p.Ser2101=) rs555344566
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg) rs6724782
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs) rs1553404220
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
NM_001378454.1(ALMS1):c.6405A>G (p.Pro2135=)
NM_001378454.1(ALMS1):c.6441A>G (p.Lys2147=) rs776254949
NM_001378454.1(ALMS1):c.6442C>A (p.Pro2148Thr) rs377360750
NM_001378454.1(ALMS1):c.646+2T>C rs1572911143
NM_001378454.1(ALMS1):c.646+3A>G rs1553399994
NM_001378454.1(ALMS1):c.646+8C>G rs760012033
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963
NM_001378454.1(ALMS1):c.647-2A>T
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6474T>C (p.Asp2158=)
NM_001378454.1(ALMS1):c.6483A>G (p.Leu2161=)
NM_001378454.1(ALMS1):c.6495T>C (p.Ala2165=) rs189124891
NM_001378454.1(ALMS1):c.6498A>C (p.Leu2166=)
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu) rs368833782
NM_001378454.1(ALMS1):c.6519G>A (p.Gly2173=)
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
NM_001378454.1(ALMS1):c.6529C>G (p.Gln2177Glu)
NM_001378454.1(ALMS1):c.6535A>G (p.Thr2179Ala)
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963
NM_001378454.1(ALMS1):c.6538G>C (p.Gly2180Arg) rs145953016
NM_001378454.1(ALMS1):c.6543A>G (p.Leu2181=) rs1553404267
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser)
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895
NM_001378454.1(ALMS1):c.6628A>G (p.Asn2210Asp) rs780909821
NM_001378454.1(ALMS1):c.6633T>G (p.Ser2211=)
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr) rs367656336
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925
NM_001378454.1(ALMS1):c.6747C>A (p.Ile2249=)
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro)
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6819A>G (p.Ala2273=)
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
NM_001378454.1(ALMS1):c.6831C>G (p.Cys2277Trp) rs761713440
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser) rs1273490920
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=) rs45580837
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=)
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro) rs6546839
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup)
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile)
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478
NM_001378454.1(ALMS1):c.6948G>A (p.Leu2316=)
NM_001378454.1(ALMS1):c.6950T>C (p.Leu2317Pro)
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.6963A>G (p.Pro2321=)
NM_001378454.1(ALMS1):c.6984C>T (p.Ser2328=)
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg) rs1060500038
NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu24_Glu25insLys) rs1006328829
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497
NM_001378454.1(ALMS1):c.7017G>A (p.Gln2339=) rs190319211
NM_001378454.1(ALMS1):c.7020G>A (p.Thr2340=) rs760756852
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys) rs1572938591
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548
NM_001378454.1(ALMS1):c.7125A>G (p.Glu2375=) rs1043215081
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.7167G>T (p.Arg2389Ser) rs1553404408
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val) rs370830919
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884
NM_001378454.1(ALMS1):c.7182G>A (p.Gly2394=) rs1572938646
NM_001378454.1(ALMS1):c.7182G>T (p.Gly2394=)
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser) rs866357733
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7257C>T (p.Ala2419=)
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370
NM_001378454.1(ALMS1):c.7275C>T (p.Ser2425=)
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser) rs35649068
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe) rs35649068
NM_001378454.1(ALMS1):c.7281G>A (p.Ser2427=) rs200684911
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.72_74= (p.Glu24_Glu25=)
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7334dup (p.Asn2445fs)
NM_001378454.1(ALMS1):c.7356C>T (p.Pro2452=) rs1290880090
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr) rs894421376
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498
NM_001378454.1(ALMS1):c.7395G>T (p.Val2465=)
NM_001378454.1(ALMS1):c.7398A>G (p.Ser2466=)
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg) rs749127545
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
NM_001378454.1(ALMS1):c.7412G>T (p.Gly2471Val)
NM_001378454.1(ALMS1):c.7418G>A (p.Gly2473Asp)
NM_001378454.1(ALMS1):c.7426G>A (p.Val2476Ile) rs772752104
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
NM_001378454.1(ALMS1):c.7447G>A (p.Val2483Met)
NM_001378454.1(ALMS1):c.7452A>G (p.Lys2484=)
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val) rs1164499906
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
NM_001378454.1(ALMS1):c.74_75insGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGA (p.Glu18_Glu28dup)
NM_001378454.1(ALMS1):c.7500C>T (p.Leu2500=) rs751719112
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143
NM_001378454.1(ALMS1):c.7527G>A (p.Arg2509=)
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
NM_001378454.1(ALMS1):c.7540+10A>G
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039
NM_001378454.1(ALMS1):c.7541-8C>T rs1553404629
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg)
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438
NM_001378454.1(ALMS1):c.75A>G (p.Glu25=)
NM_001378454.1(ALMS1):c.75_77del (p.Glu28del)
NM_001378454.1(ALMS1):c.7635A>G (p.Ala2545=)
NM_001378454.1(ALMS1):c.764+20T>A rs1881246
NM_001378454.1(ALMS1):c.764+9A>T rs551013858
NM_001378454.1(ALMS1):c.765-10A>G
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.765-8A>G
NM_001378454.1(ALMS1):c.7650T>C (p.His2550=) rs756901095
NM_001378454.1(ALMS1):c.7670C>T (p.Ser2557Phe) rs878855001
NM_001378454.1(ALMS1):c.7674+1G>T
NM_001378454.1(ALMS1):c.7674+9G>T rs1046548369
NM_001378454.1(ALMS1):c.7675-9A>G
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
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.7719A>G (p.Val2573=) rs561565809
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn) rs3820700
NM_001378454.1(ALMS1):c.7752G>A (p.Lys2584=)
NM_001378454.1(ALMS1):c.7761C>T (p.Phe2587=) rs1553409598
NM_001378454.1(ALMS1):c.7764G>A (p.Arg2588=)
NM_001378454.1(ALMS1):c.7770A>G (p.Leu2590=)
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr)
NM_001378454.1(ALMS1):c.7801C>T (p.Pro2601Ser) rs1553409608
NM_001378454.1(ALMS1):c.7803T>C (p.Pro2601=)
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281
NM_001378454.1(ALMS1):c.7821T>C (p.Ala2607=) rs1034500469
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
NM_001378454.1(ALMS1):c.783T>C (p.Ser261=) rs1572914265
NM_001378454.1(ALMS1):c.7888T>G (p.Ser2630Ala)
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.7926T>C (p.Val2642=) rs749406009
NM_001378454.1(ALMS1):c.7935C>T (p.Ser2645=)
NM_001378454.1(ALMS1):c.7944A>G (p.Leu2648=) rs1407932856
NM_001378454.1(ALMS1):c.7948A>C (p.Ser2650Arg) rs567474729
NM_001378454.1(ALMS1):c.795A>G (p.Glu265=)
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg) rs537509954
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp) rs1213279792
NM_001378454.1(ALMS1):c.7994G>C (p.Ser2665Thr)
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
NM_001378454.1(ALMS1):c.8016C>T (p.Phe2672=)
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His) rs2017116
NM_001378454.1(ALMS1):c.8031C>T (p.Asp2677=) rs754078506
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8052A>G (p.Val2684=)
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.807A>G (p.Arg269=)
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu)
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
NM_001378454.1(ALMS1):c.810A>G (p.Pro270=)
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8139C>T (p.Thr2713=)
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8142C>T (p.Ser2714=) rs1572969339
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8156C>G (p.Ser2719Cys) rs1572969357
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340
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.821G>A (p.Ser274Asn) rs767513098
NM_001378454.1(ALMS1):c.8220C>T (p.Ser2740=)
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=) rs145009331
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu) rs878855002
NM_001378454.1(ALMS1):c.8244G>A (p.Gly2748=)
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala)
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841
NM_001378454.1(ALMS1):c.8272C>A (p.Gln2758Lys) rs756042345
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
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.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8310C>T (p.Ser2770=)
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr)
NM_001378454.1(ALMS1):c.8323A>G (p.Lys2775Glu) rs1572969570
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358T>G (p.Thr2786=)
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429
NM_001378454.1(ALMS1):c.8379G>A (p.Arg2793=) rs559811855
NM_001378454.1(ALMS1):c.837G>A (p.Gln279=)
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His)
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys)
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307
NM_001378454.1(ALMS1):c.8469G>A (p.Glu2823=)
NM_001378454.1(ALMS1):c.846A>C (p.Ala282=)
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=) rs1467835066
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser) rs2056486
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile)
NM_001378454.1(ALMS1):c.8546G>A (p.Arg2849Lys) rs200009686
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
NM_001378454.1(ALMS1):c.8565A>C (p.Gly2855=)
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser) rs10193972
NM_001378454.1(ALMS1):c.8577G>A (p.Ser2859=) rs199850691
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
NM_001378454.1(ALMS1):c.858A>G (p.Ser286=) rs748158586
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val)
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121
NM_001378454.1(ALMS1):c.8622A>G (p.Pro2874=)
NM_001378454.1(ALMS1):c.8625T>C (p.Asp2875=)
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
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.870del (p.Ser290fs)
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu) rs537639125
NM_001378454.1(ALMS1):c.8727A>G (p.Gln2909=)
NM_001378454.1(ALMS1):c.8730T>C (p.His2910=) rs374693631
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294
NM_001378454.1(ALMS1):c.8745T>A (p.Ala2915=)
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys)
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8763C>A (p.Cys2921Ter) rs765908556
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=) rs376244626
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209
NM_001378454.1(ALMS1):c.8788T>G (p.Phe2930Val)
NM_001378454.1(ALMS1):c.8799C>T (p.Cys2933=)
NM_001378454.1(ALMS1):c.8805C>A (p.Ala2935=)
NM_001378454.1(ALMS1):c.8811T>C (p.Tyr2937=) rs541559170
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg) rs574785830
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140
NM_001378454.1(ALMS1):c.8901A>G (p.Glu2967=) rs371736476
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888
NM_001378454.1(ALMS1):c.8911A>G (p.Ser2971Gly)
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val) rs202110907
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
NM_001378454.1(ALMS1):c.8958C>T (p.Pro2986=)
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val)
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
NM_001378454.1(ALMS1):c.897G>A (p.Pro299=) rs1296000408
NM_001378454.1(ALMS1):c.8980G>A (p.Val2994Ile) rs45566838
NM_001378454.1(ALMS1):c.8983G>A (p.Val2995Met) rs1553409810
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
NM_001378454.1(ALMS1):c.9006G>A (p.Lys3002=)
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn) rs753980616
NM_001378454.1(ALMS1):c.9008C>T (p.Pro3003Leu) rs755044727
NM_001378454.1(ALMS1):c.900T>C (p.Leu300=)
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.9018C>T (p.His3006=) rs376757358
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.9049A>G (p.Asn3017Asp) rs1572970420
NM_001378454.1(ALMS1):c.90A>T (p.Ala30=)
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del) rs759799299
NM_001378454.1(ALMS1):c.9111T>C (p.Pro3037=)
NM_001378454.1(ALMS1):c.9126A>G (p.Lys3042=)
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro)
NM_001378454.1(ALMS1):c.9138T>C (p.Cys3046=) rs779818117
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9154T>G (p.Cys3052Gly)
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
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.9178G>T (p.Asp3060Tyr)
NM_001378454.1(ALMS1):c.9180T>C (p.Asp3060=) rs1572970568
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
NM_001378454.1(ALMS1):c.9191T>C (p.Leu3064Ser) rs1434010689
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9210A>T (p.Ser3070=)
NM_001378454.1(ALMS1):c.9231G>A (p.Ala3077=)
NM_001378454.1(ALMS1):c.9252C>T (p.Asn3084=) rs1237573573
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621
NM_001378454.1(ALMS1):c.9276G>A (p.Ser3092=) rs1462656920
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu) rs368970124
NM_001378454.1(ALMS1):c.9293C>A (p.Thr3098Asn) rs1553409866
NM_001378454.1(ALMS1):c.9309C>T (p.Thr3103=)
NM_001378454.1(ALMS1):c.9321A>G (p.Val3107=) rs371108940
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu) rs1558667813
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro) rs1572970696
NM_001378454.1(ALMS1):c.933T>C (p.Pro311=)
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066
NM_001378454.1(ALMS1):c.9360A>G (p.Lys3120=) rs368408369
NM_001378454.1(ALMS1):c.9366A>C (p.Ser3122=)
NM_001378454.1(ALMS1):c.9375C>T (p.Phe3125=)
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=) rs754743943
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877
NM_001378454.1(ALMS1):c.93G>C (p.Ala31=)
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs) rs1558667882
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu) rs1486652095
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs) rs878855003
NM_001378454.1(ALMS1):c.9433A>T (p.Ile3145Leu) rs767987000
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775
NM_001378454.1(ALMS1):c.9465C>G (p.Ser3155=)
NM_001378454.1(ALMS1):c.9477A>G (p.Gln3159=)
NM_001378454.1(ALMS1):c.9480G>A (p.Val3160=) rs752405413
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
NM_001378454.1(ALMS1):c.9522C>T (p.Thr3174=)
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.9539+10A>G rs1553409904
NM_001378454.1(ALMS1):c.9539+10_9539+12del rs1572970962
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=) rs11884776
NM_001378454.1(ALMS1):c.9564A>C (p.Pro3188=)
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val) rs377600448
NM_001378454.1(ALMS1):c.9612A>C (p.Ile3204=) rs755456619
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile) rs201624771
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570
NM_001378454.1(ALMS1):c.9636C>A (p.Thr3212=)
NM_001378454.1(ALMS1):c.9636C>G (p.Thr3212=)
NM_001378454.1(ALMS1):c.9636C>T (p.Thr3212=) rs749283920
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=) rs566943393
NM_001378454.1(ALMS1):c.9645A>G (p.Ser3215=)
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835
NM_001378454.1(ALMS1):c.9654T>C (p.Ile3218=)
NM_001378454.1(ALMS1):c.9672T>C (p.Asp3224=)
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu)
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys)
NM_001378454.1(ALMS1):c.9711A>G (p.Leu3237=)
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)
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.975G>A (p.Ser325=) rs370267673
NM_001378454.1(ALMS1):c.9767C>G (p.Ser3256Cys) rs200922218
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843
NM_001378454.1(ALMS1):c.9771C>T (p.Arg3257=)
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
NM_001378454.1(ALMS1):c.9772G>T (p.Gly3258Cys)
NM_001378454.1(ALMS1):c.9777A>C (p.Thr3259=) rs183325464
NM_001378454.1(ALMS1):c.9782-1269_9859del
NM_001378454.1(ALMS1):c.9782-1G>A
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=)
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu)
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579
NM_001378454.1(ALMS1):c.9822C>T (p.Thr3274=)
NM_001378454.1(ALMS1):c.9827T>A (p.Met3276Lys)
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs) rs1573000963
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
NM_001378454.1(ALMS1):c.9834T>C (p.Tyr3278=) rs1573000972
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=)
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=) rs1573000980
NM_001378454.1(ALMS1):c.9852A>G (p.Gln3284=) rs1558684497
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298
NM_001378454.1(ALMS1):c.9867G>A (p.Pro3289=) rs773900415
NM_001378454.1(ALMS1):c.9870T>C (p.Asp3290=)
NM_001378454.1(ALMS1):c.9876A>G (p.Lys3292=)
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305
NM_001378454.1(ALMS1):c.9885C>T (p.Thr3295=) rs1455531770
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616
NM_001378454.1(ALMS1):c.9897C>T (p.Ser3299=) rs1217540541
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823
NM_001378454.1(ALMS1):c.9907+20C>T rs74730457
NM_001378454.1(ALMS1):c.9907+7T>G rs375870610
NM_001378454.1(ALMS1):c.9907+8G>A
NM_001378454.1(ALMS1):c.9908-12G>A rs376627151
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
NM_001378454.1(ALMS1):c.993A>C (p.Lys331Asn)
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=) rs760947833
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
NM_001378454.1(ALMS1):c.9976G>A (p.Ala3326Thr)
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
NM_001378454.1(ALMS1):c.9987C>T (p.Asn3329=)
NM_001378454.1(ALMS1):c.9C>T (p.Pro3=)
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.84_87delinsA (p.Glu29del) rs1553396167
Single allele

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