NM_001378454.1(ALMS1):c.*105A>G
|
rs553541249
|
0.00150
|
NM_001378454.1(ALMS1):c.*209A>G
|
rs573978557
|
0.00019
|
NM_015120.4(ALMS1):c.-64C>T
|
rs886056293
|
0.00013
|
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg)
|
rs534635095
|
0.00006
|
NM_001378454.1(ALMS1):c.*111A>G
|
rs200498913
|
0.00002
|
NM_015120.4(ALMS1):c.-53C>T
|
rs868088238
|
0.00001
|
NM_001378454.1(ALMS1):c.10180A>G (p.Lys3394Glu)
|
rs886056316
|
|
NM_001378454.1(ALMS1):c.10826A>G (p.Gln3609Arg)
|
rs886056317
|
|
NM_001378454.1(ALMS1):c.11605A>T (p.Ser3869Cys)
|
rs886056318
|
|
NM_001378454.1(ALMS1):c.11887G>T (p.Val3963Phe)
|
rs886056319
|
|
NM_001378454.1(ALMS1):c.11998C>T (p.Pro4000Ser)
|
rs767061718
|
|
NM_001378454.1(ALMS1):c.1264G>A (p.Asp422Asn)
|
rs886056297
|
|
NM_001378454.1(ALMS1):c.1326A>G (p.Glu442=)
|
rs886056298
|
|
NM_001378454.1(ALMS1):c.1340C>G (p.Pro447Arg)
|
rs886056299
|
|
NM_001378454.1(ALMS1):c.1704A>C (p.Pro568=)
|
rs886056300
|
|
NM_001378454.1(ALMS1):c.2116A>G (p.Thr706Ala)
|
rs886056301
|
|
NM_001378454.1(ALMS1):c.2724C>T (p.Tyr908=)
|
rs573325092
|
|
NM_001378454.1(ALMS1):c.3406A>G (p.Thr1136Ala)
|
rs886056302
|
|
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.5559G>A (p.Gln1853=)
|
rs886056303
|
|
NM_001378454.1(ALMS1):c.5931G>C (p.Lys1977Asn)
|
rs886056305
|
|
NM_001378454.1(ALMS1):c.6014A>G (p.Asp2005Gly)
|
rs886056306
|
|
NM_001378454.1(ALMS1):c.6070A>G (p.Lys2024Glu)
|
rs886056307
|
|
NM_001378454.1(ALMS1):c.6139T>A (p.Ser2047Thr)
|
rs886056308
|
|
NM_001378454.1(ALMS1):c.6847C>T (p.Leu2283Phe)
|
rs886056309
|
|
NM_001378454.1(ALMS1):c.7262A>G (p.Asp2421Gly)
|
rs886056310
|
|
NM_001378454.1(ALMS1):c.7325T>A (p.Val2442Asp)
|
rs886056311
|
|
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=)
|
rs886038617
|
|
NM_001378454.1(ALMS1):c.8479A>C (p.Arg2827=)
|
rs886056312
|
|
NM_001378454.1(ALMS1):c.8816A>G (p.Asp2939Gly)
|
rs886056313
|
|
NM_001378454.1(ALMS1):c.9078T>C (p.Asn3026=)
|
rs886056314
|
|
NM_001378454.1(ALMS1):c.9224C>T (p.Ser3075Phe)
|
rs886056315
|
|
NM_001378454.1(ALMS1):c.9538C>A (p.Arg3180=)
|
rs563393715
|
|
NM_015120.4(ALMS1):c.-107G>A
|
rs886056292
|
|
NM_015120.4(ALMS1):c.-39del
|
rs764473588
|
|
NM_015120.4(ALMS1):c.-48C>T
|
rs543687863
|
|
NM_015120.4(ALMS1):c.-78A>G
|
rs571728800
|
|
NM_015120.4(ALMS1):c.-91A>G
|
rs1670500821
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|