ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic for Alstrom syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 593
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter) rs772624348 0.00004
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312 0.00004
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter) rs376091780 0.00004
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00004
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00002
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00002
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.8044G>T (p.Glu2682Ter) rs779187578 0.00002
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00002
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter) rs1674604760 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter) rs192823093 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter) rs1674967197 0.00001
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs) rs398122992 0.00001
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter) rs940576720 0.00001
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs) rs760264695 0.00001
NM_001378454.1(ALMS1):c.11668+1G>A rs1181992959 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.11669-1G>C rs750737346 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter) rs1490504758 0.00001
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter) rs568037602 0.00001
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter) rs539612316 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs) rs878854998 0.00001
NM_001378454.1(ALMS1):c.3576C>G (p.Tyr1192Ter) rs1671899045 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter) rs779928593 0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter) rs1392057115 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171 0.00001
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs) rs745461983 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.4888C>T (p.Gln1630Ter) rs974309886 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter) rs1490127694 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.61G>T (p.Glu21Ter) rs1438410766 0.00001
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372 0.00001
NM_001378454.1(ALMS1):c.6826C>T (p.Arg2276Ter) rs1238145717 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter) rs1198051503 0.00001
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter) rs1303829798 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NC_000002.11:g.(?_73610049)_(73680031_?)del
NC_000002.11:g.(?_73612987)_(73786279_?)del
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73612997)_(73650122_?)del
NC_000002.11:g.(?_73612997)_(73747163_?)del
NC_000002.11:g.(?_73635740)_(73786279_?)del
NC_000002.11:g.(?_73646231)_(73659439_?)del
NC_000002.11:g.(?_73651548)_(73659429_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73675070)_(73682442_?)del
NC_000002.11:g.(?_73716741)_(73800571_?)del
NC_000002.11:g.(?_73716751)_(73718635_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73716751)_(73762086_?)del
NC_000002.11:g.(?_73716751)_(73786279_?)del
NC_000002.11:g.(?_73746892)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73746892)_(73777574_?)del
NC_000002.11:g.(?_73746892)_(73800561_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.11:g.(?_73799379)_(73800561_?)del
NC_000002.11:g.(?_73827785)_(73828583_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NM_001378454.1(ALMS1):c.10063C>T (p.Gln3355Ter)
NM_001378454.1(ALMS1):c.10120_10121del (p.Ser3374fs)
NM_001378454.1(ALMS1):c.10125del (p.Asp3375fs) rs2104057987
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter)
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.10247del (p.Ala3416fs) rs2104063719
NM_001378454.1(ALMS1):c.10332del (p.Glu3446fs)
NM_001378454.1(ALMS1):c.10355dup (p.Asn3452fs)
NM_001378454.1(ALMS1):c.10385-2A>G rs1255779642
NM_001378454.1(ALMS1):c.10421del (p.Arg3474fs) rs2104103586
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs) rs1674946144
NM_001378454.1(ALMS1):c.10507_10510del (p.Lys3503fs)
NM_001378454.1(ALMS1):c.10530_10531insGGAATGTCTTTCCAAGATT (p.Trp3511fs) rs2104104085
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs) rs2104104189
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs) rs1163532771
NM_001378454.1(ALMS1):c.10591_10594del (p.Pro3531fs)
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs) rs2104104427
NM_001378454.1(ALMS1):c.10652dup (p.Asn3551fs)
NM_001378454.1(ALMS1):c.10668del (p.Asn3556fs) rs2104104628
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer) rs1372103295
NM_001378454.1(ALMS1):c.10676del (p.Val3559fs) rs1573030204
NM_001378454.1(ALMS1):c.10698_10702del (p.Val3567fs)
NM_001378454.1(ALMS1):c.10765_10766insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGGTCACCCCAG (p.Pro3588_Glu3589insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrIleLeuAlaAsnThrValLysProArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysValThrPro) rs2104105041
NM_001378454.1(ALMS1):c.10766del (p.Glu3589fs) rs2104105065
NM_001378454.1(ALMS1):c.10782_10792del (p.Thr3595fs)
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10825C>T (p.Gln3609Ter)
NM_001378454.1(ALMS1):c.10828_10829del (p.Arg3610fs) rs755616266
NM_001378454.1(ALMS1):c.10831C>T (p.Gln3611Ter) rs2104105305
NM_001378454.1(ALMS1):c.10833del (p.Gln3611fs)
NM_001378454.1(ALMS1):c.10834C>T (p.Gln3612Ter) rs756345976
NM_001378454.1(ALMS1):c.10838_10839del (p.Arg3613fs)
NM_001378454.1(ALMS1):c.10860del (p.Glu3622fs)
NM_001378454.1(ALMS1):c.10876del (p.Val3626fs)
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.10909C>T (p.Gln3637Ter)
NM_001378454.1(ALMS1):c.1092del (p.Asp365fs) rs1572914641
NM_001378454.1(ALMS1):c.10942G>T (p.Glu3648Ter) rs397514576
NM_001378454.1(ALMS1):c.10972C>T (p.Arg3658Ter) rs780438592
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter) rs1674968936
NM_001378454.1(ALMS1):c.10989G>A (p.Trp3663Ter) rs193919339
NM_001378454.1(ALMS1):c.10999C>T (p.Gln3667Ter)
NM_001378454.1(ALMS1):c.11002C>T (p.Gln3668Ter)
NM_001378454.1(ALMS1):c.11037dup (p.Lys3680Ter) rs2104106303
NM_001378454.1(ALMS1):c.11041del (p.Ser3681fs)
NM_001378454.1(ALMS1):c.11054_11055del (p.Ser3685fs)
NM_001378454.1(ALMS1):c.11076del (p.Ser3695fs)
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11083dup (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter) rs747747269
NM_001378454.1(ALMS1):c.11110_11128del (p.Gly3704fs) rs2104106546
NM_001378454.1(ALMS1):c.11137C>T (p.Gln3713Ter)
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs) rs1674975219
NM_001378454.1(ALMS1):c.11170C>T (p.Gln3724Ter)
NM_001378454.1(ALMS1):c.11198del (p.Thr3733fs)
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter) rs367877017
NM_001378454.1(ALMS1):c.11304_11307del (p.Thr3769fs)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.1132_1135dup (p.Asn379fs)
NM_001378454.1(ALMS1):c.11374C>T (p.Gln3792Ter)
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs) rs768759374
NM_001378454.1(ALMS1):c.1139_1140dup (p.Ala381Ter)
NM_001378454.1(ALMS1):c.11400C>A (p.Cys3800Ter)
NM_001378454.1(ALMS1):c.11411del (p.Arg3804fs) rs1263250868
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs) rs2104108070
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11499_11502dup (p.His3835fs)
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs) rs1675623302
NM_001378454.1(ALMS1):c.11577dup (p.Ile3860fs) rs2104188795
NM_001378454.1(ALMS1):c.115del (p.Asp39fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs) rs2104188943
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11644_11645del (p.Met3882fs) rs1573052379
NM_001378454.1(ALMS1):c.11651_11654del (p.Asn3884fs)
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11682del (p.Ile3894fs)
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter) rs1290800821
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11723del (p.Thr3908fs) rs1573053412
NM_001378454.1(ALMS1):c.11725_11726del (p.Phe3909fs)
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs)
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter) rs1318520999
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs) rs1675665426
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11846_11849del (p.Lys3949fs) rs765718672
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs) rs765718672
NM_001378454.1(ALMS1):c.11853del (p.Asn3951fs)
NM_001378454.1(ALMS1):c.11871_11872del (p.Gly3958fs) rs2104194220
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.1201del (p.Glu401fs)
NM_001378454.1(ALMS1):c.1208C>G (p.Ser403Ter) rs1248541208
NM_001378454.1(ALMS1):c.12313C>T (p.Gln4105Ter)
NM_001378454.1(ALMS1):c.12323del (p.Lys4108fs) rs1675739925
NM_001378454.1(ALMS1):c.12340del (p.Glu4114fs) rs2104202909
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter) rs1174712970
NM_001378454.1(ALMS1):c.12391A>T (p.Lys4131Ter)
NM_001378454.1(ALMS1):c.12397A>T (p.Arg4133Ter)
NM_001378454.1(ALMS1):c.12409A>T (p.Lys4137Ter)
NM_001378454.1(ALMS1):c.1291G>T (p.Glu431Ter) rs2103720460
NM_001378454.1(ALMS1):c.1335_1338del (p.Arg445fs) rs2103720605
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter) rs2103734325
NM_001378454.1(ALMS1):c.1349_1350del (p.Glu450fs)
NM_001378454.1(ALMS1):c.1352C>A (p.Ser451Ter)
NM_001378454.1(ALMS1):c.1359T>A (p.Tyr453Ter) rs2103734375
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs)
NM_001378454.1(ALMS1):c.1403_1404del (p.Val468fs) rs1558642193
NM_001378454.1(ALMS1):c.1413del (p.Pro472fs) rs2103734574
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter) rs2103771067
NM_001378454.1(ALMS1):c.1466_1469del (p.Thr489fs) rs2103771168
NM_001378454.1(ALMS1):c.1480A>T (p.Lys494Ter) rs2103771218
NM_001378454.1(ALMS1):c.149del (p.Ala50fs) rs2104058704
NM_001378454.1(ALMS1):c.1518del (p.Ile506fs)
NM_001378454.1(ALMS1):c.1549del (p.Leu517fs)
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)
NM_001378454.1(ALMS1):c.1594C>T (p.Gln532Ter)
NM_001378454.1(ALMS1):c.1601dup (p.Thr534_Asp535insTer) rs1572931360
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1625T>G (p.Leu542Ter)
NM_001378454.1(ALMS1):c.1673del (p.Pro558fs)
NM_001378454.1(ALMS1):c.168dup (p.Asp57fs) rs1269948810
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter) rs756389027
NM_001378454.1(ALMS1):c.1756C>T (p.Gln586Ter) rs2103772104
NM_001378454.1(ALMS1):c.1785dup (p.Glu596Ter)
NM_001378454.1(ALMS1):c.1786del (p.Glu596fs)
NM_001378454.1(ALMS1):c.1791_1798dup (p.Lys600delinsArgLeuTer) rs398122991
NM_001378454.1(ALMS1):c.1816G>T (p.Gly606Ter) rs1553403321
NM_001378454.1(ALMS1):c.1844C>G (p.Ser615Ter) rs2103772444
NM_001378454.1(ALMS1):c.1850dup (p.Thr618fs)
NM_001378454.1(ALMS1):c.1876_1879del (p.Glu626fs)
NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs) rs2103772743
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1946C>G (p.Ser649Ter)
NM_001378454.1(ALMS1):c.1969C>T (p.Gln657Ter)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter) rs1169223296
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter) rs115444326
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter) rs190439406
NM_001378454.1(ALMS1):c.2064_2065dup (p.Thr689fs) rs2103773428
NM_001378454.1(ALMS1):c.2070dup (p.Gln691fs) rs1671856137
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter) rs752875933
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.2110C>T (p.Gln704Ter)
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter) rs757131983
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter)
NM_001378454.1(ALMS1):c.2158_2161del (p.Glu720fs)
NM_001378454.1(ALMS1):c.2164_2165insT (p.Pro722fs) rs1671859372
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs)
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2179C>T (p.Gln727Ter)
NM_001378454.1(ALMS1):c.2182C>T (p.Gln728Ter)
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter) rs757152182
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs) rs2103774323
NM_001378454.1(ALMS1):c.2231C>G (p.Ser744Ter)
NM_001378454.1(ALMS1):c.2239_3050dup (p.Trp1017delinsCysLeuAspGlnLeuThrArgArgLeuArgTyrGlnGlnTyrSerLeuValLeuThrHisLysGluLysSerLeuValPheCysThrHisArgThrTer)
NM_001378454.1(ALMS1):c.2270del (p.Pro757fs) rs1572932377
NM_001378454.1(ALMS1):c.2273_2274del (p.Ala758fs) rs1671863469
NM_001378454.1(ALMS1):c.2292C>G (p.Tyr764Ter)
NM_001378454.1(ALMS1):c.2314_2315del (p.Ile772fs) rs2103774725
NM_001378454.1(ALMS1):c.236G>A (p.Trp79Ter)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs) rs1271517550
NM_001378454.1(ALMS1):c.237G>A (p.Trp79Ter)
NM_001378454.1(ALMS1):c.2434_2435dup (p.Arg814fs)
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2446A>T (p.Lys816Ter)
NM_001378454.1(ALMS1):c.2467C>T (p.Gln823Ter) rs201853697
NM_001378454.1(ALMS1):c.2483del (p.Ser828fs)
NM_001378454.1(ALMS1):c.2494G>T (p.Glu832Ter)
NM_001378454.1(ALMS1):c.2513C>A (p.Ser838Ter) rs2103775505
NM_001378454.1(ALMS1):c.2519_2525del (p.Val840fs)
NM_001378454.1(ALMS1):c.2536G>T (p.Gly846Ter) rs201154998
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.2652dup (p.Leu885fs)
NM_001378454.1(ALMS1):c.2658dup (p.Val887fs)
NM_001378454.1(ALMS1):c.2663C>G (p.Ser888Ter)
NM_001378454.1(ALMS1):c.2687del (p.Gln896fs) rs2103776149
NM_001378454.1(ALMS1):c.2705C>G (p.Ser902Ter)
NM_001378454.1(ALMS1):c.2734_2737del (p.Glu912fs) rs1671876151
NM_001378454.1(ALMS1):c.2743dup (p.Ile915fs)
NM_001378454.1(ALMS1):c.2752del (p.Ser918fs)
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.2755C>T (p.Gln919Ter) rs1322100078
NM_001378454.1(ALMS1):c.2785G>T (p.Glu929Ter) rs1572933082
NM_001378454.1(ALMS1):c.2797A>T (p.Lys933Ter)
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.2827C>T (p.Gln943Ter)
NM_001378454.1(ALMS1):c.2882del (p.Ser961fs) rs2103776873
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter) rs761177629
NM_001378454.1(ALMS1):c.2897del (p.Gln966fs) rs1671880064
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378454.1(ALMS1):c.2935_2936del (p.Leu979fs) rs2103777026
NM_001378454.1(ALMS1):c.2941dup (p.Met981fs)
NM_001378454.1(ALMS1):c.2955_2956insTGAC (p.Gly986Ter) rs1553403585
NM_001378454.1(ALMS1):c.2963del (p.Thr988fs)
NM_001378454.1(ALMS1):c.298G>T (p.Glu100Ter) rs1254495717
NM_001378454.1(ALMS1):c.2994_2997del (p.Pro999fs) rs766323360
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter) rs1359874667
NM_001378454.1(ALMS1):c.3012del (p.His1005fs) rs2103777336
NM_001378454.1(ALMS1):c.3019_3022del (p.Glu1007fs)
NM_001378454.1(ALMS1):c.3039_3042del (p.Gln1014fs) rs1671883188
NM_001378454.1(ALMS1):c.3050G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter) rs1671883598
NM_001378454.1(ALMS1):c.3059_3062del (p.Ser1020fs) rs2103777482
NM_001378454.1(ALMS1):c.3112C>T (p.Gln1038Ter) rs2103777652
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs) rs1671885188
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter) rs1671885850
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter) rs1671886193
NM_001378454.1(ALMS1):c.31G>T (p.Glu11Ter)
NM_001378454.1(ALMS1):c.3230C>G (p.Ser1077Ter)
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs)
NM_001378454.1(ALMS1):c.3253C>T (p.Gln1085Ter)
NM_001378454.1(ALMS1):c.3297_3298del (p.Lys1102fs) rs1553403653
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs) rs1553403653
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter) rs1671890891
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3340_3341del (p.His1115fs)
NM_001378454.1(ALMS1):c.3375_3376del (p.Ala1126fs) rs2103778657
NM_001378454.1(ALMS1):c.3422C>G (p.Ser1141Ter) rs780622565
NM_001378454.1(ALMS1):c.3436C>T (p.Gln1146Ter) rs2103778961
NM_001378454.1(ALMS1):c.3466C>T (p.Gln1156Ter)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter) rs1671017057
NM_001378454.1(ALMS1):c.3522dup (p.Thr1175fs) rs1671897788
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs) rs2103779248
NM_001378454.1(ALMS1):c.3557_3564del (p.Arg1186fs) rs2103779399
NM_001378454.1(ALMS1):c.3567_3586del (p.Thr1190fs)
NM_001378454.1(ALMS1):c.358_361del (p.Ile120fs)
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3729_3730del (p.Lys1244fs)
NM_001378454.1(ALMS1):c.3751C>T (p.Gln1251Ter)
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3853del (p.Ser1285fs)
NM_001378454.1(ALMS1):c.3862_3863insTAT (p.Gln1288delinsLeuTer)
NM_001378454.1(ALMS1):c.3867T>G (p.Tyr1289Ter) rs369314182
NM_001378454.1(ALMS1):c.3872_3875dup (p.Pro1293fs)
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3895C>T (p.Gln1299Ter)
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter) rs769219669
NM_001378454.1(ALMS1):c.3903_4072del (p.Leu1301fs) rs2103780610
NM_001378454.1(ALMS1):c.3918_3921del (p.Thr1307fs)
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs) rs2103780806
NM_001378454.1(ALMS1):c.4004C>G (p.Ser1335Ter)
NM_001378454.1(ALMS1):c.4010_4011del (p.Thr1337fs) rs2103780952
NM_001378454.1(ALMS1):c.4035_4047del (p.Gln1345fs)
NM_001378454.1(ALMS1):c.4036C>T (p.Gln1346Ter)
NM_001378454.1(ALMS1):c.4039del (p.Val1347fs) rs2103781095
NM_001378454.1(ALMS1):c.4138_4141del (p.Ser1380fs)
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs) rs2103781518
NM_001378454.1(ALMS1):c.4179_4180inv (p.Gln1394Ter)
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter) rs2103781864
NM_001378454.1(ALMS1):c.4221dup (p.Val1408fs) rs2103781901
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4271T>A (p.Leu1424Ter) rs2103782122
NM_001378454.1(ALMS1):c.4293_4296del (p.His1431fs) rs398122993
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
NM_001378454.1(ALMS1):c.4335_4336del (p.His1445fs)
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter)
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4411_4412del (p.Val1471fs) rs2103782701
NM_001378454.1(ALMS1):c.4645dup (p.Arg1549fs) rs1553403917
NM_001378454.1(ALMS1):c.4662_4663delinsAT (p.Gly1555Ter)
NM_001378454.1(ALMS1):c.46G>T (p.Glu16Ter)
NM_001378454.1(ALMS1):c.4711_4712dup (p.Ser1572fs)
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter) rs2103783763
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs) rs2103783797
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs) rs758098717
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs) rs758098717
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs) rs1439452693
NM_001378454.1(ALMS1):c.4934C>A (p.Ser1645Ter) rs774594040
NM_001378454.1(ALMS1):c.496C>T (p.Gln166Ter)
NM_001378454.1(ALMS1):c.4G>T (p.Glu2Ter)
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5021del (p.Phe1674fs)
NM_001378454.1(ALMS1):c.5025C>G (p.Tyr1675Ter)
NM_001378454.1(ALMS1):c.5051_5057del (p.His1683_Leu1684insTer) rs1671941012
NM_001378454.1(ALMS1):c.5132T>G (p.Leu1711Ter)
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs) rs748709116
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5197C>T (p.Gln1733Ter) rs750136202
NM_001378454.1(ALMS1):c.5198_5199del (p.Gln1733fs)
NM_001378454.1(ALMS1):c.5215del (p.Ser1739fs) rs1195572987
NM_001378454.1(ALMS1):c.5260dup (p.Val1754fs)
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5277T>G (p.Tyr1759Ter)
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835
NM_001378454.1(ALMS1):c.5307C>A (p.Tyr1769Ter) rs758678450
NM_001378454.1(ALMS1):c.5307C>G (p.Tyr1769Ter)
NM_001378454.1(ALMS1):c.5318T>A (p.Leu1773Ter) rs2103786025
NM_001378454.1(ALMS1):c.5350A>T (p.Lys1784Ter)
NM_001378454.1(ALMS1):c.538_541dup (p.Asp181fs)
NM_001378454.1(ALMS1):c.5396C>G (p.Ser1799Ter)
NM_001378454.1(ALMS1):c.539_542dup (p.Asp181fs)
NM_001378454.1(ALMS1):c.5422_5425del (p.His1808fs) rs1671951264
NM_001378454.1(ALMS1):c.5430_5431del (p.Lys1811fs)
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter) rs1671239143
NM_001378454.1(ALMS1):c.5501del (p.Pro1834fs)
NM_001378454.1(ALMS1):c.554_555del (p.Thr185fs)
NM_001378454.1(ALMS1):c.5571dup (p.Val1858fs)
NM_001378454.1(ALMS1):c.5583T>A (p.Tyr1861Ter)
NM_001378454.1(ALMS1):c.5587C>T (p.Gln1863Ter) rs769440001
NM_001378454.1(ALMS1):c.5606_5612del (p.Thr1869fs)
NM_001378454.1(ALMS1):c.560dup (p.Ser189fs) rs1439541639
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter)
NM_001378454.1(ALMS1):c.5627dup (p.Gly1877fs) rs1553404109
NM_001378454.1(ALMS1):c.564del (p.Ser189fs)
NM_001378454.1(ALMS1):c.5655_6063del (p.Lys1885_Thr1886insTer) rs2103787249
NM_001378454.1(ALMS1):c.5698_5701del (p.Glu1900fs) rs1558650438
NM_001378454.1(ALMS1):c.5706del (p.Ser1903fs)
NM_001378454.1(ALMS1):c.5719C>T (p.Gln1907Ter)
NM_001378454.1(ALMS1):c.571G>T (p.Glu191Ter) rs765553310
NM_001378454.1(ALMS1):c.5722C>T (p.Gln1908Ter)
NM_001378454.1(ALMS1):c.5732del (p.Pro1911fs) rs763048583
NM_001378454.1(ALMS1):c.5746G>T (p.Glu1916Ter)
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs) rs2103787540
NM_001378454.1(ALMS1):c.5787del (p.Lys1930fs)
NM_001378454.1(ALMS1):c.57_58insTAGGAG (p.Glu20Ter) rs1574423697
NM_001378454.1(ALMS1):c.5821dup (p.Tyr1941fs) rs2103787808
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter)
NM_001378454.1(ALMS1):c.5826dup (p.Arg1943fs)
NM_001378454.1(ALMS1):c.5848_5849del (p.Ile1950fs)
NM_001378454.1(ALMS1):c.5853_5854del (p.Gln1952fs) rs2103787916
NM_001378454.1(ALMS1):c.5854C>T (p.Gln1952Ter)
NM_001378454.1(ALMS1):c.586del (p.Thr196fs) rs2103701730
NM_001378454.1(ALMS1):c.5887G>T (p.Glu1963Ter)
NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter) rs1671240457
NM_001378454.1(ALMS1):c.5902dup (p.Ser1968fs)
NM_001378454.1(ALMS1):c.5915del (p.Ile1972fs)
NM_001378454.1(ALMS1):c.5923del (p.Glu1975fs) rs398122994
NM_001378454.1(ALMS1):c.5926C>T (p.Gln1976Ter) rs533606326
NM_001378454.1(ALMS1):c.5951dup (p.Ser1985fs)
NM_001378454.1(ALMS1):c.595G>T (p.Glu199Ter)
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5972C>G (p.Ser1991Ter)
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6061C>T (p.Gln2021Ter)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter) rs1671971419
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs) rs1671971721
NM_001378454.1(ALMS1):c.6163_6164dup (p.Asn2055fs) rs2103789120
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs) rs1671974033
NM_001378454.1(ALMS1):c.622_623del (p.Asp208fs)
NM_001378454.1(ALMS1):c.6263del (p.Pro2088fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter) rs28730854
NM_001378454.1(ALMS1):c.6308_6318del (p.Ile2103fs)
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
NM_001378454.1(ALMS1):c.6343dup (p.Thr2115fs)
NM_001378454.1(ALMS1):c.6372del (p.Pro2125fs) rs1553404220
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs) rs2103701996
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs) rs1553404233
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter) rs770558150
NM_001378454.1(ALMS1):c.6467T>A (p.Leu2156Ter) rs2103790206
NM_001378454.1(ALMS1):c.6479del (p.His2160fs)
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs) rs2103790479
NM_001378454.1(ALMS1):c.6538G>T (p.Gly2180Ter)
NM_001378454.1(ALMS1):c.6560del (p.Gly2187fs)
NM_001378454.1(ALMS1):c.6566dup (p.Tyr2189Ter)
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs) rs1034630858
NM_001378454.1(ALMS1):c.6587del (p.Lys2196fs) rs1553404283
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer) rs2103790992
NM_001378454.1(ALMS1):c.6683_6684del (p.Asp2228fs) rs2103791069
NM_001378454.1(ALMS1):c.6688dup (p.Arg2230fs) rs2103791083
NM_001378454.1(ALMS1):c.6690_6691del (p.Arg2230fs)
NM_001378454.1(ALMS1):c.6703A>T (p.Lys2235Ter)
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6813dup (p.Met2272fs) rs1671989236
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6839del (p.Pro2280fs)
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
NM_001378454.1(ALMS1):c.6886C>T (p.Gln2296Ter) rs747355678
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6918del (p.Ser2307fs) rs2103791934
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.6993C>A (p.Cys2331Ter)
NM_001378454.1(ALMS1):c.7001dup (p.Asp2335fs)
NM_001378454.1(ALMS1):c.7067C>A (p.Ser2356Ter)
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs) rs1553404395
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe) rs768751472
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7234A>T (p.Lys2412Ter)
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7244C>A (p.Ser2415Ter) rs1060500039
NM_001378454.1(ALMS1):c.7244C>G (p.Ser2415Ter)
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer) rs1225343345
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.73G>T (p.Glu25Ter) rs1285425883
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter) rs373586405
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.74_75insGGAGTA (p.Glu26_Glu27insTerGlu) rs1574423810
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter) rs1315351235
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter) rs1572939837
NM_001378454.1(ALMS1):c.7624del (p.Glu2542fs)
NM_001378454.1(ALMS1):c.7672A>T (p.Lys2558Ter) rs1200012970
NM_001378454.1(ALMS1):c.7674+1G>A rs1417025395
NM_001378454.1(ALMS1):c.7674+1G>T rs1417025395
NM_001378454.1(ALMS1):c.7737_7738insTTTTTTTTTTTTTTTTTTNNNNNNNNNNACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTGAAGCGATTTTCCTGCCTCAGCCTCCGTCACATTATTATT (p.Ile2579_Glu2580insPhePhePhePhePhePheXaaXaaXaaXaaGlyValLeuLeuCysCysLeuGlyGlyValGlnTrpCysAsnLeuGlySerLeuGlnProLeuProProArgLeuLysArgPheSerCysLeuSerLeuArgHisIleIleIle) rs2103889249
NM_001378454.1(ALMS1):c.7751del (p.Lys2584fs)
NM_001378454.1(ALMS1):c.7769dup (p.Thr2591fs)
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.784G>T (p.Glu262Ter)
NM_001378454.1(ALMS1):c.7864dup (p.Cys2622fs) rs2103889832
NM_001378454.1(ALMS1):c.7866C>A (p.Cys2622Ter)
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs) rs1307785790
NM_001378454.1(ALMS1):c.7948del (p.Ser2650fs)
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter) rs549857076
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8042C>G (p.Ser2681Ter)
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001378454.1(ALMS1):c.8072del (p.Pro2691fs)
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs) rs2103890652
NM_001378454.1(ALMS1):c.8129del (p.Lys2710fs)
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8153C>A (p.Ser2718Ter)
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs) rs2103890894
NM_001378454.1(ALMS1):c.8221C>T (p.Gln2741Ter)
NM_001378454.1(ALMS1):c.823G>T (p.Glu275Ter)
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs) rs748621056
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs) rs2103891188
NM_001378454.1(ALMS1):c.8295dup (p.Gln2766fs)
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001378454.1(ALMS1):c.8343del (p.Asp2782fs)
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8358dup (p.Ile2787fs)
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338
NM_001378454.1(ALMS1):c.8391dup (p.Leu2798fs) rs1553409715
NM_001378454.1(ALMS1):c.8440_8443del (p.Arg2814fs)
NM_001378454.1(ALMS1):c.8444C>G (p.Ser2815Ter) rs2103891827
NM_001378454.1(ALMS1):c.847G>T (p.Glu283Ter)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter) rs1672957185
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8598del (p.Glu2867fs) rs2103892422
NM_001378454.1(ALMS1):c.8630_8631insG (p.Ser2878fs) rs2103892558
NM_001378454.1(ALMS1):c.8637C>A (p.Cys2879Ter)
NM_001378454.1(ALMS1):c.8668dup (p.Gln2890fs)
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs) rs2103714765
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8739T>G (p.Tyr2913Ter)
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.8769dup (p.Leu2924fs) rs2103893216
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter) rs376244626
NM_001378454.1(ALMS1):c.8790_8791del (p.Phe2930fs) rs1672964092
NM_001378454.1(ALMS1):c.8856_8860del (p.Gln2953fs) rs2103893595
NM_001378454.1(ALMS1):c.8858_8859insAGCTATAGAATCCTCA (p.Asp2954fs) rs2103893636
NM_001378454.1(ALMS1):c.8935C>T (p.Gln2979Ter)
NM_001378454.1(ALMS1):c.8965C>T (p.Gln2989Ter) rs2103894102
NM_001378454.1(ALMS1):c.8998C>T (p.Gln3000Ter) rs200930613
NM_001378454.1(ALMS1):c.9068C>G (p.Ser3023Ter)
NM_001378454.1(ALMS1):c.9083_9084del (p.Cys3028fs)
NM_001378454.1(ALMS1):c.9113del (p.Pro3038fs) rs1425609364
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs) rs1672976991
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter) rs1434010689
NM_001378454.1(ALMS1):c.9245del (p.Glu3082fs)
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs) rs1572970628
NM_001378454.1(ALMS1):c.9268_9269dup (p.Ser3091fs) rs2103895390
NM_001378454.1(ALMS1):c.9325C>T (p.Gln3109Ter) rs1558667813
NM_001378454.1(ALMS1):c.9340_9341del (p.Leu3114fs) rs2103895650
NM_001378454.1(ALMS1):c.9352G>T (p.Gly3118Ter) rs2103895712
NM_001378454.1(ALMS1):c.9385C>T (p.Gln3129Ter) rs1314034889
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs)
NM_001378454.1(ALMS1):c.9419_9420del (p.Gln3140fs) rs1558667882
NM_001378454.1(ALMS1):c.9430dup (p.Thr3144fs) rs878855003
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter) rs917667192
NM_001378454.1(ALMS1):c.9474dup (p.Gln3159fs)
NM_001378454.1(ALMS1):c.9538C>T (p.Arg3180Ter) rs563393715
NM_001378454.1(ALMS1):c.9540-2A>G
NM_001378454.1(ALMS1):c.9546del (p.Glu3183fs) rs2103961819
NM_001378454.1(ALMS1):c.9549del (p.Lys3184fs)
NM_001378454.1(ALMS1):c.9619_9620del (p.Glu3207fs)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs) rs1273296127
NM_001378454.1(ALMS1):c.974_981del (p.Ile324_Ser325insTer) rs1671343808
NM_001378454.1(ALMS1):c.9751C>T (p.Gln3251Ter)
NM_001378454.1(ALMS1):c.9760_9764dup (p.Phe3255fs)
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9805A>T (p.Lys3269Ter)
NM_001378454.1(ALMS1):c.9829_9832dup (p.Tyr3278fs) rs1573000963
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter) rs1573000972
NM_001378454.1(ALMS1):c.9841C>T (p.Gln3281Ter)
NM_001378454.1(ALMS1):c.9905C>G (p.Ser3302Ter) rs1673996095
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
NM_001378454.1(ALMS1):c.9957_9958dup (p.Arg3320fs)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_001378454.1(ALMS1):c.9981_9987dup (p.Ile3330delinsCysTer)
NM_001378454.1(ALMS1):c.9996_9997del (p.His3332fs)
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.11551del rs1675622361
NM_015120.4(ALMS1):c.[3902C>A];[6436C>T]
NM_015120.4:c.(?_9911)_(11550_?)del
NM_015120.4:c.11054_11055ins[N[333];11041_11054]
Single allele

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