NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00005
|
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.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
0.00001
|
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
|
rs1490504758
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
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.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
NM_001378454.1(ALMS1):c.797G>A (p.Trp266Ter)
|
rs1558639105
|
0.00001
|
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter)
|
rs193919340
|
0.00001
|
NM_001378454.1(ALMS1):c.10566_10567del (p.His3522fs)
|
rs1163532771
|
|
NM_001378454.1(ALMS1):c.11204C>A (p.Ser3735Ter)
|
rs367877017
|
|
NM_001378454.1(ALMS1):c.11308_11309del (p.Thr3769_Asp3770insTer)
|
rs1553418578
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
NM_001378454.1(ALMS1):c.11394_11395del (p.Arg3798fs)
|
rs1553418598
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.1579G>T (p.Glu527Ter)
|
rs759021934
|
|
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)
|
rs1347176614
|
|
NM_001378454.1(ALMS1):c.1642del (p.Thr548fs)
|
rs2466091816
|
|
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs)
|
rs387906313
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter)
|
rs1572932845
|
|
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.3013_3014del (p.Ser1004_His1005insTer)
|
rs1572933385
|
|
NM_001378454.1(ALMS1):c.3016del (p.Arg1006fs)
|
|
|
NM_001378454.1(ALMS1):c.3248_3255del (p.Ala1083fs)
|
rs755944454
|
|
NM_001378454.1(ALMS1):c.3899C>A (p.Ser1300Ter)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs)
|
rs1553403851
|
|
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
|
rs2103783763
|
|
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs)
|
rs779366889
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter)
|
rs2466108740
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.7129dup (p.Thr2377fs)
|
rs1179374287
|
|
NM_001378454.1(ALMS1):c.7185_7189del (p.Cys2395fs)
|
|
|
NM_001378454.1(ALMS1):c.7372_7373del (p.Thr2457_Asp2458insTer)
|
rs1225343345
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
NM_001378454.1(ALMS1):c.8174_8184del (p.Cys2725fs)
|
rs2103890894
|
|
NM_001378454.1(ALMS1):c.925C>T (p.Gln309Ter)
|
rs1558639213
|
|