NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
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rs201816596
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0.00068
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NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
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rs201390755
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0.00065
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NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
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rs200266868
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0.00064
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NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
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rs201252809
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0.00057
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NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
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rs201971114
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0.00037
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NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
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rs199604280
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0.00015
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NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
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rs202228570
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0.00015
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NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
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rs201728850
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0.00014
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NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
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rs187887110
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0.00012
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NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
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rs914898490
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0.00009
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NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
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rs199615803
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0.00008
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NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
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rs555552377
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0.00007
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NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)
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rs189851617
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0.00006
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NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
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rs562345472
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0.00003
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NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
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rs989080548
|
0.00001
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NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met)
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rs767799669
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NM_001378454.1(ALMS1):c.10384+1632G>A
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NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
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NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
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NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr)
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rs1674969661
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NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
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NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
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NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
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NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
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NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr)
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rs1039388814
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NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
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NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
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rs764135588
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NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
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NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
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NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
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NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
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rs200925575
|
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NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
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rs938557636
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NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser)
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NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)
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rs1572937937
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NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
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NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
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NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
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NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
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NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
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NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
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NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)
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