ClinVar Miner

List of variants in gene ALMS1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 331
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HGVS dbSNP
NC_000002.12:g.73424408_73424411del rs532044714
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=) rs34617744
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs) rs1572914641
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.1899A>G (p.Gln633=) rs116033693
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=) rs77517267
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.3011_3012CA[1] (p.Ser1004_His1005insTer) rs1572933385
NM_001378454.1(ALMS1):c.36_38GGA[11] (p.Glu27_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_38GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
NM_001378454.1(ALMS1):c.550del (p.Glu183_Val184insTer)
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln) rs17009061
NM_001378454.1(ALMS1):c.6086C>A (p.Thr2029Asn)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs) rs1182262187
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203
NM_001378454.1(ALMS1):c.964G>T (p.Glu322Ter)
NM_001378454.1(ALMS1):c.9782-9C>T rs10199680
NM_015120.4(ALMS1):c.10023G>A (p.Arg3341=) rs746166271
NM_015120.4(ALMS1):c.1009T>C (p.Cys337Arg) rs746923506
NM_015120.4(ALMS1):c.10145T>G (p.Ile3382Ser) rs1558693233
NM_015120.4(ALMS1):c.10149dup (p.Ser3384fs) rs1553416872
NM_015120.4(ALMS1):c.10172C>T (p.Ala3391Val) rs905527689
NM_015120.4(ALMS1):c.10216+22C>T rs78983290
NM_015120.4(ALMS1):c.10217-214G>A rs147356858
NM_015120.4(ALMS1):c.10221C>T (p.Ser3407=) rs754938453
NM_015120.4(ALMS1):c.10224_10226TGC[6] (p.Ala3413dup) rs760731440
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) rs78108069
NM_015120.4(ALMS1):c.10357A>G (p.Asn3453Asp) rs573748379
NM_015120.4(ALMS1):c.1035A>G (p.Ser345=) rs376519124
NM_015120.4(ALMS1):c.10388-239C>A rs6725385
NM_015120.4(ALMS1):c.10465G>C (p.Val3489Leu) rs1057523167
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.10777A>G (p.Thr3593Ala) rs200467041
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10971G>C (p.Gly3657=) rs1439789927
NM_015120.4(ALMS1):c.11020C>A (p.Leu3674Ile) rs549757247
NM_015120.4(ALMS1):c.11073C>A (p.Gly3691=) rs371329585
NM_015120.4(ALMS1):c.11086del (p.Ser3696fs) rs1412574975
NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) rs398122992
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11207C>T (p.Ser3736Leu) rs367877017
NM_015120.4(ALMS1):c.11258A>G (p.Asn3753Ser) rs199917289
NM_015120.4(ALMS1):c.11311_11312del (p.Thr3770_Asp3771insTer) rs1553418578
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.11395_11396AG[1] (p.Arg3799fs) rs1553418598
NM_015120.4(ALMS1):c.11414G>C (p.Arg3805Thr) rs201028172
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) rs750087396
NM_015120.4(ALMS1):c.1147A>G (p.Thr383Ala) rs28730849
NM_015120.4(ALMS1):c.11548-3T>C rs555547573
NM_015120.4(ALMS1):c.11577C>T (p.Asp3859=) rs561636004
NM_015120.4(ALMS1):c.11587T>C (p.Ser3863Pro) rs202227966
NM_015120.4(ALMS1):c.11644C>T (p.His3882Tyr) rs142278066
NM_015120.4(ALMS1):c.11670A>G (p.Ala3890=) rs767848384
NM_015120.4(ALMS1):c.11671+119A>G rs11901974
NM_015120.4(ALMS1):c.11711G>A (p.Arg3904Gln) rs201673771
NM_015120.4(ALMS1):c.11767A>G (p.Asn3923Asp) rs45486496
NM_015120.4(ALMS1):c.11768A>G (p.Asn3923Ser) rs199874928
NM_015120.4(ALMS1):c.11775T>C (p.Asp3925=) rs201924342
NM_015120.4(ALMS1):c.1182A>C (p.Ser394=) rs765376715
NM_015120.4(ALMS1):c.11872+18G>A rs139647347
NM_015120.4(ALMS1):c.11873-2A>T rs786205527
NM_015120.4(ALMS1):c.11942C>T (p.Thr3981Ile) rs200568988
NM_015120.4(ALMS1):c.11994G>A (p.Trp3998Ter) rs1553421725
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.12009G>A (p.Arg4003=) rs1573054242
NM_015120.4(ALMS1):c.12039C>A (p.Asp4013Glu) rs370981817
NM_015120.4(ALMS1):c.12040G>A (p.Gly4014Ser) rs541576664
NM_015120.4(ALMS1):c.12047G>A (p.Gly4016Asp) rs200462734
NM_015120.4(ALMS1):c.12111C>G (p.Thr4037=) rs767174517
NM_015120.4(ALMS1):c.12116A>G (p.Gln4039Arg) rs1057524132
NM_015120.4(ALMS1):c.12117+33G>A rs28730864
NM_015120.4(ALMS1):c.12118-100C>T rs115841170
NM_015120.4(ALMS1):c.1215dup (p.Lys406Ter) rs1553400785
NM_015120.4(ALMS1):c.12208C>T (p.Gln4070Ter) rs1558712413
NM_015120.4(ALMS1):c.12225C>T (p.Thr4075=) rs199638718
NM_015120.4(ALMS1):c.12254G>T (p.Arg4085Met) rs375314465
NM_015120.4(ALMS1):c.12278G>T (p.Arg4093Leu) rs748624161
NM_015120.4(ALMS1):c.12288G>T (p.Pro4096=) rs776912137
NM_015120.4(ALMS1):c.12299-9C>G rs1573056433
NM_015120.4(ALMS1):c.12301+183C>T rs7576245
NM_015120.4(ALMS1):c.12319_12335del (p.Lys4107fs) rs1558712932
NM_015120.4(ALMS1):c.12362+18A>T rs535484933
NM_015120.4(ALMS1):c.12365+181G>A rs141980244
NM_015120.4(ALMS1):c.12365+23A>T rs116733486
NM_015120.4(ALMS1):c.12365+24C>T rs114375547
NM_015120.4(ALMS1):c.12365+27A>G rs17848872
NM_015120.4(ALMS1):c.12365+57C>T rs116327057
NM_015120.4(ALMS1):c.12366-294A>C rs114257034
NM_015120.4(ALMS1):c.1237+2T>C rs916056435
NM_015120.4(ALMS1):c.12379C>T (p.Leu4127Phe) rs746923966
NM_015120.4(ALMS1):c.12392A>G (p.Gln4131Arg) rs371587051
NM_015120.4(ALMS1):c.12428A>G (p.Tyr4143Cys) rs775032572
NM_015120.4(ALMS1):c.12441G>T (p.Arg4147=) rs35902379
NM_015120.4(ALMS1):c.12450C>T (p.Ala4150=) rs374020124
NM_015120.4(ALMS1):c.12465+205G>C rs28730865
NM_015120.4(ALMS1):c.1250A>G (p.Gln417Arg) rs777072028
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.1356G>A (p.Ser452=) rs370873335
NM_015120.4(ALMS1):c.1389G>A (p.Arg463=) rs749794703
NM_015120.4(ALMS1):c.139G>A (p.Val47Met) rs1057524276
NM_015120.4(ALMS1):c.1432+2_1432+15del rs1203193062
NM_015120.4(ALMS1):c.1456A>G (p.Ile486Val) rs73945001
NM_015120.4(ALMS1):c.1605T>G (p.Thr535=) rs757654976
NM_015120.4(ALMS1):c.1612C>G (p.Leu538Val) rs202111717
NM_015120.4(ALMS1):c.1628T>A (p.Leu543Ter) rs1347176614
NM_015120.4(ALMS1):c.1637C>T (p.Thr546Ile) rs772068213
NM_015120.4(ALMS1):c.1674del (p.Pro559fs) rs786205633
NM_015120.4(ALMS1):c.1727_1728delinsCTAGT (p.His576delinsProSer) rs1064795650
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1737G>A (p.Arg579=) rs1027908105
NM_015120.4(ALMS1):c.1776C>T (p.Asp592=) rs369744185
NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) rs398122991
NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) rs148040591
NM_015120.4(ALMS1):c.1869C>T (p.Tyr623=) rs1474922476
NM_015120.4(ALMS1):c.1870T>C (p.Ser624Pro) rs767987501
NM_015120.4(ALMS1):c.1887T>C (p.Pro629=) rs373831151
NM_015120.4(ALMS1):c.1965A>G (p.Pro655=) rs1572931748
NM_015120.4(ALMS1):c.1977G>A (p.Lys659=) rs1572931765
NM_015120.4(ALMS1):c.1979C>T (p.Thr660Met) rs199682595
NM_015120.4(ALMS1):c.1995A>G (p.Val665=) rs894774935
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.2041C>G (p.Arg681Gly) rs115444326
NM_015120.4(ALMS1):c.2052G>A (p.Leu684=) rs1572931934
NM_015120.4(ALMS1):c.2097G>A (p.Val699=) rs200535382
NM_015120.4(ALMS1):c.2137_2138CT[2] (p.Ser714fs) rs387906313
NM_015120.4(ALMS1):c.2187A>G (p.Gln729=) rs572605877
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.2484C>T (p.Asp828=) rs748371743
NM_015120.4(ALMS1):c.2489A>G (p.His830Arg) rs370830603
NM_015120.4(ALMS1):c.2505T>C (p.Ala835=) rs761599987
NM_015120.4(ALMS1):c.2518G>A (p.Ala840Thr) rs1356972872
NM_015120.4(ALMS1):c.2538C>G (p.Asp846Glu) rs77517267
NM_015120.4(ALMS1):c.2539G>A (p.Gly847Arg) rs201154998
NM_015120.4(ALMS1):c.2664A>G (p.Val888=) rs76266696
NM_015120.4(ALMS1):c.2686_2688del (p.Asp896del) rs763288832
NM_015120.4(ALMS1):c.269C>T (p.Pro90Leu) rs989191437
NM_015120.4(ALMS1):c.2729C>G (p.Ser910Ter) rs746640196
NM_015120.4(ALMS1):c.283C>T (p.Pro95Ser) rs775431837
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.3012C>T (p.Phe1004=) rs1572933379
NM_015120.4(ALMS1):c.3050A>C (p.Glu1017Ala) rs1085307601
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.3106C>T (p.Pro1036Ser) rs531648685
NM_015120.4(ALMS1):c.3196T>C (p.Ser1066Pro) rs28730852
NM_015120.4(ALMS1):c.325-8A>G rs200740825
NM_015120.4(ALMS1):c.3270A>G (p.Thr1090=) rs773260160
NM_015120.4(ALMS1):c.3293A>G (p.Tyr1098Cys) rs201816596
NM_015120.4(ALMS1):c.3308A>C (p.Lys1103Thr) rs185586839
NM_015120.4(ALMS1):c.3378A>G (p.Val1126=) rs189914793
NM_015120.4(ALMS1):c.3382C>T (p.Pro1128Ser) rs182127619
NM_015120.4(ALMS1):c.3423C>T (p.Thr1141=) rs1300610392
NM_015120.4(ALMS1):c.3435C>T (p.Tyr1145=) rs768929630
NM_015120.4(ALMS1):c.349G>A (p.Val117Ile) rs752342634
NM_015120.4(ALMS1):c.3571A>G (p.Thr1191Ala) rs772287164
NM_015120.4(ALMS1):c.3575del (p.Phe1192fs) rs1558648759
NM_015120.4(ALMS1):c.3577T>G (p.Tyr1193Asp) rs1553403697
NM_015120.4(ALMS1):c.357A>G (p.Gln119=) rs531782624
NM_015120.4(ALMS1):c.3692G>A (p.Gly1231Glu) rs372619046
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.3882C>G (p.Pro1294=) rs758192739
NM_015120.4(ALMS1):c.3885C>T (p.Ser1295=) rs746658957
NM_015120.4(ALMS1):c.3902C>A (p.Ser1301Ter) rs769219669
NM_015120.4(ALMS1):c.3945A>C (p.Ser1315=) rs186449817
NM_015120.4(ALMS1):c.39_77= (p.Glu13_Glu26=) rs55889738
NM_015120.4(ALMS1):c.4027G>A (p.Val1343Ile) rs751346260
NM_015120.4(ALMS1):c.4060C>A (p.Pro1354Thr) rs1005994594
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.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.4157C>G (p.Thr1386Arg) rs115517108
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.4278C>T (p.Pro1426=) rs775642753
NM_015120.4(ALMS1):c.4292_4293CA[2] (p.His1432fs) rs398122993
NM_015120.4(ALMS1):c.4347A>G (p.Leu1449=) rs200459890
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.4433C>T (p.Ser1478Leu) rs794727926
NM_015120.4(ALMS1):c.4451T>C (p.Ile1484Thr) rs370271775
NM_015120.4(ALMS1):c.4650A>G (p.Arg1550=) rs564445910
NM_015120.4(ALMS1):c.4846T>G (p.Leu1616Val) rs375736124
NM_015120.4(ALMS1):c.4859C>T (p.Ala1620Val) rs1085307684
NM_015120.4(ALMS1):c.4886A>G (p.Tyr1629Cys) rs375939859
NM_015120.4(ALMS1):c.4888C>T (p.Arg1630Trp) rs201874722
NM_015120.4(ALMS1):c.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.5009G>T (p.Gly1670Val) rs267599447
NM_015120.4(ALMS1):c.5059G>C (p.Glu1687Gln) rs1553403999
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5172A>G (p.Gln1724=) rs75434052
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5192A>G (p.Glu1731Gly) rs201390755
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.520_524dup (p.Phe176fs) rs1553399962
NM_015120.4(ALMS1):c.5224G>C (p.Val1742Leu) rs962844498
NM_015120.4(ALMS1):c.5300A>G (p.Asn1767Ser) rs192863498
NM_015120.4(ALMS1):c.5331T>C (p.Ser1777=) rs745907642
NM_015120.4(ALMS1):c.5355A>G (p.Lys1785=) rs1409359077
NM_015120.4(ALMS1):c.5358T>G (p.Val1786=) rs1420283861
NM_015120.4(ALMS1):c.5377_5378delinsAT (p.Ala1793Ile) rs1131691296
NM_015120.4(ALMS1):c.5450A>G (p.Tyr1817Cys) rs780110659
NM_015120.4(ALMS1):c.5465C>T (p.Pro1822Leu) rs200266868
NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) rs62151609
NM_015120.4(ALMS1):c.5659A>T (p.Thr1887Ser) rs886043799
NM_015120.4(ALMS1):c.5676A>C (p.Ala1892=) rs1572936907
NM_015120.4(ALMS1):c.5686T>A (p.Ser1896Thr) rs1288519568
NM_015120.4(ALMS1):c.5770G>C (p.Val1924Leu) rs772665115
NM_015120.4(ALMS1):c.5830C>A (p.Arg1944Ser) rs370398704
NM_015120.4(ALMS1):c.5830C>T (p.Arg1944Cys) rs370398704
NM_015120.4(ALMS1):c.5926del (p.Glu1976fs) rs398122994
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6202C>G (p.Gln2068Glu) rs886042711
NM_015120.4(ALMS1):c.6214A>G (p.Ile2072Val) rs1020163869
NM_015120.4(ALMS1):c.6282T>C (p.Ser2094=) rs1572937640
NM_015120.4(ALMS1):c.6302A>T (p.Lys2101Ile) rs373286582
NM_015120.4(ALMS1):c.6364G>C (p.Val2122Leu) rs200368564
NM_015120.4(ALMS1):c.6445C>A (p.Pro2149Thr) rs377360750
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.64del (p.Glu22fs) rs753006733
NM_015120.4(ALMS1):c.6527C>T (p.Ala2176Val) rs549259627
NM_015120.4(ALMS1):c.6540C>T (p.Thr2180=) rs371511963
NM_015120.4(ALMS1):c.6546A>G (p.Leu2182=) rs1553404267
NM_015120.4(ALMS1):c.6710C>T (p.Pro2237Leu) rs201737248
NM_015120.4(ALMS1):c.674C>A (p.Pro225His) rs11889925
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.6830G>A (p.Arg2277Gln) rs200979896
NM_015120.4(ALMS1):c.6902T>C (p.Val2301Ala) rs1057523384
NM_015120.4(ALMS1):c.6963G>A (p.Gln2321=) rs794727925
NM_015120.4(ALMS1):c.6978A>G (p.Glu2326=) rs1455390186
NM_015120.4(ALMS1):c.7008T>C (p.Asp2336=) rs781592497
NM_015120.4(ALMS1):c.7016C>A (p.Thr2339Lys) rs373004988
NM_015120.4(ALMS1):c.7016C>T (p.Thr2339Ile) rs373004988
NM_015120.4(ALMS1):c.7128A>G (p.Glu2376=) rs1043215081
NM_015120.4(ALMS1):c.7202G>A (p.Gly2401Glu) rs373985919
NM_015120.4(ALMS1):c.720G>A (p.Ala240=) rs373972884
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.7291A>G (p.Ser2431Gly) rs539112266
NM_015120.4(ALMS1):c.72_73insAAG (p.Glu25_Glu26insLys) rs1006328829
NM_015120.4(ALMS1):c.7359C>T (p.Pro2453=) rs1290880090
NM_015120.4(ALMS1):c.7495G>A (p.Glu2499Lys) rs1057524023
NM_015120.4(ALMS1):c.7503C>T (p.Leu2501=) rs751719112
NM_015120.4(ALMS1):c.7510G>T (p.Ala2504Ser) rs202060439
NM_015120.4(ALMS1):c.7529G>A (p.Arg2510Gln) rs551433143
NM_015120.4(ALMS1):c.7544-163A>G rs76317790
NM_015120.4(ALMS1):c.7544-180G>C rs17009070
NM_015120.4(ALMS1):c.7544-33T>C rs28730856
NM_015120.4(ALMS1):c.7562A>G (p.Asn2521Ser) rs377085127
NM_015120.4(ALMS1):c.760C>T (p.Pro254Ser) rs368153355
NM_015120.4(ALMS1):c.762T>A (p.Pro254=) rs201478438
NM_015120.4(ALMS1):c.7657del (p.Arg2553fs) rs1553404662
NM_015120.4(ALMS1):c.7678-144C>G rs2056750
NM_015120.4(ALMS1):c.7678-64A>T rs77286979
NM_015120.4(ALMS1):c.7678-66A>T rs75510346
NM_015120.4(ALMS1):c.7679G>A (p.Gly2560Asp) rs1248528012
NM_015120.4(ALMS1):c.767G>A (p.Arg256Lys) rs786205526
NM_015120.4(ALMS1):c.7713A>C (p.Pro2571=) rs750225944
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.7947A>G (p.Leu2649=) rs1407932856
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.800G>A (p.Trp267Ter) rs1558639105
NM_015120.4(ALMS1):c.8034C>T (p.Asp2678=) rs754078506
NM_015120.4(ALMS1):c.8114C>T (p.Ser2705Phe) rs761272792
NM_015120.4(ALMS1):c.8125A>C (p.Met2709Leu) rs371904071
NM_015120.4(ALMS1):c.816G>A (p.Ser272=) rs775482774
NM_015120.4(ALMS1):c.8171C>A (p.Ser2724Tyr) rs368409205
NM_015120.4(ALMS1):c.823A>C (p.Ser275Arg) rs761800808
NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) rs767513098
NM_015120.4(ALMS1):c.8284C>G (p.Pro2762Ala) rs369650940
NM_015120.4(ALMS1):c.8309C>T (p.Ser2770Phe) rs1060500037
NM_015120.4(ALMS1):c.8362A>G (p.Ile2788Val) rs200075429
NM_015120.4(ALMS1):c.8382G>A (p.Arg2794=) rs559811855
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
NM_015120.4(ALMS1):c.8417dup (p.Gln2808fs) rs1057519133
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015120.4(ALMS1):c.8456C>T (p.Thr2819Ile) rs373211307
NM_015120.4(ALMS1):c.8536A>G (p.Ile2846Val) rs1057524748
NM_015120.4(ALMS1):c.8549G>A (p.Arg2850Lys) rs200009686
NM_015120.4(ALMS1):c.8580G>A (p.Ser2860=) rs199850691
NM_015120.4(ALMS1):c.8647C>T (p.Leu2883Phe) rs373944325
NM_015120.4(ALMS1):c.8676C>A (p.Ser2892Arg) rs755823751
NM_015120.4(ALMS1):c.8724T>C (p.Ser2908=) rs1386201636
NM_015120.4(ALMS1):c.8739T>G (p.Asp2913Glu) rs189758049
NM_015120.4(ALMS1):c.8793dup (p.Glu2932Ter) rs1553409778
NM_015120.4(ALMS1):c.8886G>A (p.Pro2962=) rs367862140
NM_015120.4(ALMS1):c.8923C>T (p.Pro2975Ser) rs1043429291
NM_015120.4(ALMS1):c.9032T>C (p.Ile3011Thr) rs780894681
NM_015120.4(ALMS1):c.9053A>G (p.Asn3018Ser) rs768218725
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.9266A>G (p.His3089Arg) rs376083621
NM_015120.4(ALMS1):c.9279G>A (p.Ser3093=) rs1462656920
NM_015120.4(ALMS1):c.928C>T (p.Gln310Ter) rs1558639213
NM_015120.4(ALMS1):c.9380A>G (p.Gln3127Arg) rs1553409872
NM_015120.4(ALMS1):c.94_96GCG[3] (p.Ala35_Ala36del) rs746896173
NM_015120.4(ALMS1):c.9539+10_9539+12del rs1572970962
NM_015120.4(ALMS1):c.9543-259T>C rs6711033
NM_015120.4(ALMS1):c.9577T>C (p.Phe3193Leu) rs1294949042
NM_015120.4(ALMS1):c.9592T>A (p.Ser3198Thr) rs369682692
NM_015120.4(ALMS1):c.9619A>G (p.Thr3207Ala) rs878853092
NM_015120.4(ALMS1):c.9639C>T (p.Thr3213=) rs749283920
NM_015120.4(ALMS1):c.9715C>T (p.Arg3239Cys) rs201252375
NM_015120.4(ALMS1):c.9763A>C (p.Thr3255Pro) rs1553412796
NM_015120.4(ALMS1):c.9785-70G>A rs3738848
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.9855A>G (p.Gln3285=) rs1558684497
NM_015120.4(ALMS1):c.9883G>C (p.Asp3295His) rs200441305
NM_015120.4(ALMS1):c.9910+129T>G rs73947814
NM_015120.4(ALMS1):c.9910+160A>G rs10178678
NM_015120.4(ALMS1):c.9910+309G>A rs34032338

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