Alström syndrome database

Web application where the genotypic and phenotypic information of 347 cases described in the biliography of patients with Alström syndrome is collected.
PatientFamiliesReference_Patientc.DNA_mutationsProtein_mutationsTOMExonGenotype_statusSexAgeEthnicityVIMTHRTHLLIVRENRESSHSREP
1AS-1Aliferis et al 2011c.9052del/c.9052delp.(Asn3018IlefsTer14)/p.(Asn3018IlefsTer14)cLOF/cLOF10/10HomozygousM0-9French110100000
2AS-2Aliferis et al 2011c.11316_11319del/c.11316_11319delp.(Glu3773TrpfsTer18)/p.(Glu3773TrpfsTer18)cLOF/cLOF16/16HomozygousM0-9French110000000
3AS-3Aliferis et al 2011c.2299C>T/c.2299C>Tp.(Gln767Ter)/p.(Gln767Ter)cLOF/cLOF8/8HomozygousM0-9French110000000
4AS-4Aliferis et al 2011c.6828_6829insA/c.6828_6829insAp.(Arg2277ThrfsTer15)/p.(Arg2277ThrfsTer15)cLOF/cLOF8/8HomozygousF0-9French110000000
5AS-5Bakar et al 2017c.12154_12166del/c.12154_12166delp.(Arg4052GlyfsTer2)/p.(Arg4052GlyfsTer2)cLOF/cLOF20/20HomozygousF10-19Saudi Arabia110100000
6AS-6Fayez et al 2014c.7942C>T/c.9163A>Tp.(Gln2648Ter)/p.(Lys3055Ter)cLOF/cLOF10/10HeterozygousM30-39Caucasian Brazilian111100001
7AS-6Fayez et al 2014c.7942C>T/c.9163A>Tp.(Gln2648Ter)/p.(Lys3055Ter)cLOF/cLOF10/10HeterozygousM20-29Caucasian Brazilian111110001
8AS-7Casey et al 2014c.777del/c.12145_12146insCp.(Asp260IlefsTer26)/p.(Phe4049SerfsTer36)cLOF/cLOF5/20HeterozygousF10-19Irish101010100
9AS-7Casey et al 2014c.777del/c.12145_12146insCp.(Asp260IlefsTer26)/p.(Phe4049SerfsTer36)cLOF/cLOF5/20HeterozygousM0-9Irish101000000
10AS-8Jatti et al 2012c.10775del/c.11416C>Tp.(Thr3592LysfsTer6)/p.(Arg3806Ter)cLOF/cLOF16/16HeterozygousM40-49UK111101100
11AS-9Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousF10-19Mennonites mexicans110000000
12AS-9Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousF10-19Mennonites mexicans110000000
13AS-9Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousF0-9Mennonites mexicans110100000
14AS-10Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousF10-19Mennonites mexicans110000000
15AS-10Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousF10-19Mennonites mexicans110100000
16AS-10Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousM0-9Mennonites mexicans110000000
17AS-10Cruz-aguilar et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousM0-9Mennonites mexicans100000000
18AS-11Khoo et al 2009c.6305C>A/c.10483C>Tp.(Ser2102Ter)/p.(Gln3495Ter)cLOF/cLOF8/16HeterozygousM20-29111100000
19AS-11Khoo et al 2009c.6305C>A/c.10483C>Tp.(Ser2102Ter)/p.(Gln3495Ter)cLOF/cLOF8/16HeterozygousF30-39111100000
20AS-12Joy et al 2007c.1270G>A/c.11644C>Tp.(Val424Ile)/p.(His3882Tyr)Ms/Ms6/17HeterozygousF20-29English Caucasian111001000
21AS-13Malm et al 2008c.11726del/p.(Thr3909IlefsTer18)/cLOF/18/HeterozygousF10-19Swedish110101100
22AS-14Malm et al 2008c.11316_11319del/c.9900dupp.(Glu3773TrpfsTer18)/p.(Ser3301LeufsTer7)cLOF/cLOF16/10HeterozygousF10-19Swedish111101100
23AS-15Malm et al 2008c.10483C>T/p.(Gln3495Ter)/cLOF/16/HeterozygousF10-19Swedish111100000
24AS-16Taokesen et al 2012AluYa5SINE(333pbinserction)/
AluYa5SINE(333pbinserction)
/Transposon/Transposon16/16HomozygousM10-19Turkish111100011
25AS-17Taokesen et al 2012AluYa5SINE(333pbinserction)/
AluYa5SINE(333pbinserction)
/Transposon/Transposon16/16HomozygousF0-9Turkish110000000
26AS-18Liang et al 2013c.9449dup/c.9460delp.(Asn3150LysfsTer2)/p.(Val3154fsTer)cLOF/cLOF10/10HeterozygousF10-19Chinese110111000
27AS-19Liang et al 2013c.11015del/c.11107C>T p.(Asn3672IlefsTer12)/p.(Arg3703Ter)cLOF/cLOF16/16HeterozygousF10-19Chinese110101000
28AS-20Liang et al 2013c.7436C>G/c.10830dupp.(Ser2479Ter)/p.(Arg3611GlufsTer7)cLOF/cLOF8/16HeterozygousM0-9Chinese110010001
29AS-21tLiang et al 2013c.2084C>A/c.2084C>Ap.(Ser695Ter)/p.(Ser695Ter)cLOF/cLOF8/8HomozygousM10-19Chinese110011000
30AS-21tLiang et al 2013c.2084C>A/c.2084C>Ap.(Ser695Ter)/p.(Ser695Ter)cLOF/cLOF8/8HomozygousM10-19Chinese110011000
31AS-22tLiang et al 2013c.2061del/c.9441_9442insAATAp.(His688IlefsTer2)/p.(Gln3147GlnfsTer2)cLOF/cLOF8/10HeterozygousF0-9Chinese110011000
32AS-22tLiang et al 2013c.2061del/c.9441_9442insAATAp.(His688IlefsTer2)/p.(Gln3147GlnfsTer2)cLOF/cLOF8/10HeterozygousF0-9Chinese110011000
33AS-23Liu et al 2009c.8224C>T/c.8224C>Tp.(Gln2742Ter)/p.(Gln2742Ter)cLOF/cLOF10/10HomozygousM0-9Chinese110100011
34AS-24Minton et al 2006 c.10775del/ c.10775delp.(Thr3592LysfsTer6)/p.(Thr3592LysfsTer6)cLOF/cLOF16/16HomozygousM0-9white United Kingdom111100000
35AS-25Minton et al 2006c.5362A>G/ c.10775delp.(Asn1788Asp)/p.(Thr3592LysfsTer6)Ms/cLOF8/16HeterozygousM0-9white United Kingdom111110010
36AS-26Minton et al 2006c.6590del/c.8838C>Gp.(Lys2197SerfsTer10)/p.(Asn2946Lys)cLOF/Ms8/10HeterozygousF10-19white United Kingdom111100000
37AS-27Minton et al 2006c.2224dup/c.10975C>Tp.(Thr742AsnfsTer2)/p.(Arg3659Ter)cLOF/cLOF8/16HeterozygousF10-19 African-Caribbean/white United Kingdom111100000
38AS-28Minton et al 2006c.11449C>T/p.(Gln3817Ter)/cLOF/16/M10-19white United Kingdom111100001
39AS-29Minton et al 2006c.8008C>T /c.10885C>T p.(Arg2670Ter)/p.(Arg3629Ter)cLOF/cLOF10/16HeterozygousF10-19white United Kingdom111110000
40AS-30Minton et al 2006c.10483C>T /c.10775delp.(Gln3495Ter)/p.(Thr3592LysfsTer6)cLOF/cLOF16/16HeterozygousM30-39white United Kingdom111101000
41AS-31Minton et al 2006c.10775del/c.11416C>T p.(Thr3592LysfsTer6)/p.(Arg3806Ter) cLOF/cLOF16/16HeterozygousM30-39white United Kingdom111111001
44AS-34Minton et al 2006c.11107C>T/p.(Arg3703Ter)/cLOF/16/M10-19white United Kingdom111100000
45AS-34Minton et al 2006c.10775del/c.10992G>A p.(Thr3592LysfsTer6)/p.(Trp3664Ter)cLOF/cLOF16/16HeterozygousF20-29white United Kingdom111101000
46AS-35Titomanlio et al 2004c.11460C>G/c.11460C>Gp.(Tyr3820Ter)/p.(Tyr3820Ter)cLOF/cLOF16/16HomozygousM0-9Danish110100100
47AS-35Titomanlio et al 2004c.11460C>G/c.11460C>Gp.(Tyr3820Ter)/p.(Tyr3820Ter)cLOF/cLOF16/16HomozygousM0-9Danish111000000
48AS-36Katagiri et al 2013c.6151C>T/c.6151C>Tp.(Gln2051Ter)/p.(Gln2051Ter)cLOF/cLOF8/8HomozygousM20-29Japanase110010111
49AS-36Katagiri et al 2013c.6151C>T/c.6151C>Tp.(Gln2051Ter)/p.(Gln2051Ter)cLOF/cLOF8/8HomozygousM20-29Japanase110010111
50AS-37Corbetti et al 2013c.8935C>T/c.8935C>Tp.(Gln2979Ter)/p.(Gln2979Ter)cLOF/cLOF10/10HomozygousF40-49Italian110111011
51AS-38Corbetti et al 2013c.3422C>G/c.3422C>Gp.(Ser1141Ter)/p.(Ser1141Ter)cLOF/cLOF8/8HomozygousM40-49Italian110110011
52AS-39Corbetti et al 2013c.2161A>T/c.11310_11313delp.(Lys721Ter)/p.(Asp3770GlufsTer20)cLOF/cLOF8/16HeterozygousM30-39Italian110111011
53AS-40Corbetti et al 2013c.7301_7302del/c.10972C>Tp.(Glu2434ValfsTer7)/p.(Arg3658Ter)cLOF/cLOF8/16HeterozygousF20-29Italian111111111
54AS-41Corbetti et al 2013c.8779C>T/c.9898dupp.(Arg2927Ter)/p.(His3300ProfsTer6)cLOF/cLOF10/12HeterozygousM20-29Italian111111101
55AS-42Corbetti et al 2013c.11310_11313del/p.(Asp3770GlufsTer20)/cLOF/16/HeterozygousF20-29Italian110111011
56AS-43Corbetti et al 2013c.1766T>A/c.3422C>Gp.(Leu589Ter)/p.(Ser1141Ter)cLOF/cLOF8/8HeterozygousM10-19Italian111110111
57AS-44Corbetti et al 2013c.1766T>A/c.3422C>Gp.(Leu589Ter)/p.(Ser1141Ter)cLOF/cLOF8/8HeterozygousF10-19Italian111110101
58AS-45Kuburovića et al 2013c.10568_10569del/p.(His3523GlnfsTer17)/cLOF/16/HeterozygousM10-19Serbian111111001
59AS-46Kuburovića et al 2013c.3163dup/c.4156dupp.(Glu1055GlyfsTer4)/p.(Thr1386AsnfsTer15)cLOF/cLOF8/8HeterozygousM10-19Serbian111111001
60AS-47Aysegul et al 2015 c.3054G>A/p.(Trp1018Ter)/cLOF/8/HeterozygousF20-29Turkish110100010
61AS-48Aysegul et al 2015c.3340del/c.3340delp.(Glu1114ArgfsTer9)/p.(Glu1114ArgfsTer9)cLOF/cLOF8/8HomozygousM Turkish110100001
62AS-49Aysegul et al 2015c.4156insA /c.10825C>T p.(Thr1386AsnfsTer15)/p.(Arg3609Ter)cLOF/cLOF8/16HeterozygousM20-29Turkish110110101
63AS-50Aysegul et al 2015c.4156insA /c.4156insA p.(Thr1386AsnfsTer15)/p.(Thr1386AsnfsTer15)cLOF/cLOF8/8HomozygousF10-19Turkish111111001
64AS-51Aysegul et al 2015c.5311C>T /c.5311C>T p.(Gln1771Ter)/p.(Gln1771Ter)cLOF/cLOF8/8HomozygousM20-29Turkish111111001
65AS-52Aysegul et al 2015c.5311C>T /c.5311C>T p.(Gln1771Ter)/p.(Gln1771Ter)cLOF/cLOF8/8HomozygousM0-9Turkish111110000
66AS-52Aysegul et al 2015c.5311C>T /c.10568_10569delp.(Gln1771Ter)/p.(His3523GlnfsTer17)cLOF/cLOF8/16HeterozygousF10-19Turkish110100101
67AS-52Aysegul et al 2015c.5311C>T /c.10568_10569delp.(Gln1771Ter)/p.(His3523GlnfsTer17)cLOF/cLOF8/16HeterozygousM10-19Turkish111110101
68AS-52Aysegul et al 2015c.5311C>T /c.10568_10569delp.(Gln1771Ter)/p.(His3523GlnfsTer17)cLOF/cLOF8/16HeterozygousM0-9Turkish110010100
69AS-53Aysegul et al 2015c.5586T>G /c.2908dupp.(Tyr1862Ter)/p.(Leu970PhefsTer5)cLOF/cLOF8/8HeterozygousF10-19Turkish111111100
70AS-54Aysegul et al 2015c.5969C>G /c.5969C>G p.(Ser1990Ter)/p.(Ser1990Ter)cLOF/cLOF8/8HomozygousM10-19Turkish111101001
71AS-55Aysegul et al 2015c.5969C>G /c.2291C>Tp.(Ser1990Ter)/p.(Ser764Phe)cLOF/Ms8/8HeterozygousF0-9Turkish111111100
72AS-56Aysegul et al 2015c.11870-3T>G/c.5969C>G /p.(Ser1990Ter) hetintronic/cLOFintron 18/8HeterozygousM10-19Turkish110111001
73AS-57Aysegul et al 2015c.6173_6177del/c.6173_6177delp.(Leu2058SerfsTer7)/p.(Leu2058SerfsTer7)cLOF/cLOF8/8HomozygousM30-39Turkish110111011
74AS-58Aysegul et al 2015c.7716del/p.(Ala2573LeufsTer19)/cLOF/10/HeterozygousM10-19Turkish110010001
75AS-58Aysegul et al 2015c.7716del/p.(Ala2573LeufsTer19)/cLOF/10/HeterozygousF10-19Turkish110011000
76AS-59Aysegul et al 2015c.7531del/p.(Val2511TyrfsTer8)/cLOF/8/HeterozygousF0-9Turkish111110000
77AS-59Aysegul et al 2015c.7531del/p.(Val2511TyrfsTer8)/cLOF/8/HeterozygousF10-19Turkish111110000
78AS-60Aysegul et al 2015c.8506G>T/c.8506G>Tp.(Glu2836Ter)/p.(Glu2836Ter)cLOF/cLOF10/10HomozygousM10-19Turkish110110101
79AS-60Aysegul et al 2015c.8506G>T/c.8506G>Tp.(Glu2836Ter)/p.(Glu2836Ter)cLOF/cLOF10/10HomozygousF0-9Turkish110010000
80AS-61Aysegul et al 2015c.8506G>T/c.8506G>Tp.(Glu2836Ter)/p.(Glu2836Ter)cLOF/cLOF10/10HomozygousF10-19Turkish110110100
81AS-62Aysegul et al 2015c.8506G>T/c.8506G>Tp.(Glu2836Ter)/p.(Glu2836Ter)cLOF/cLOF10/10HomozygousM10-19Turkish110110011
82AS-63Aysegul et al 2015c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF20-29Turkish111111110
83AS-63Aysegul et al 2015c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF30-39Turkish111011110
84AS-63Aysegul et al 2015c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF30-39Turkish111111110
85AS-64Aysegul et al 2015c.8477del/c.8477delp.(Ser2826IlefsTer30)/p.(Ser2826IlefsTer30)cLOF/cLOF10/10HomozygousM Turkish110111010
86AS-65Aysegul et al 2015c.9749C>A/c.12117+20delp.(Ser3250Ter)/cLOF/intronic11/intron 19HeterozygousM10-19Turkish111110000
87AS-66Aysegul et al 2015c.11055ins(n)331/c.11055ins(n)331/intronic/16/16HomozygousM10-19Turkish111111001
88AS-66Aysegul et al 2015c.11055ins(n)331/c.11055ins(n)331/intronic/16/16HomozygousF0-9Turkish110010000
89AS-67Aysegul et al 2015c.11080A>T/c.11080A>Tp.(Lys3694Ter)/p.(Lys3694Ter)cLOF/intronic16/16HomozygousM10-19Turkish110110000
90AS-68Aysegul et al 2015c.11870-3T>G /c.11870-3T>G /intronic/intronicintron 18/intron 18HomozygousM10-19Turkish111111000
91AS-68Aysegul et al 2015c.11870-3T>G /c.11870-3T>G /intronic/intronicintron 18/intron 18HomozygousF0-9Turkish111010100
92AS-69Aysegul et al 2015c.2317_2318del/c.2317_2318delp.(Ile773PhefsTer13)/p.(Ile773PhefsTer13)cLOF/cLOF8/8HomozygousM10-19Turkish111100100
93AS-70Kim et al 2015c.8782C>T/c.6416_6422delp.(Arg2928Ter)/p.(Ser2141PhefsTer20)cLOF/cLOF10/8HeterozygousF20-29Korean111111001
94AS-71Chakrouna et al 2016c.10388-2A>G/c.10388-2A>G/intronic/intronicintron 15/intron 15HomozygousM20-29Tunisian110100000
95AS-71Chakrouna et al 2016c.10388-2A>G/c.10388-2A>G/intronic/intronicintron 15/intron 15HomozygousF10-19Tunisian110100000
96AS-72Laxer et al 2016c.7316C>A/c.7316C>Ap.(Ser2439Ter)/p.(Ser2439Ter)cLOF/cLOF8/8HomozygousM10-19Turkish110111010
97AS-72Laxer et al 2016c.7316C>A/c.7316C>Ap.(Ser2439Ter)/p.(Ser2439Ter)cLOF/cLOF8/8HomozygousM10-19Turkish111111010
98AS-73Wicher et al 2017c.8164C>T/c.11207C>Ap.(Arg2722Ter)/p.(Ser3736Ter)cLOF/cLOF10/16HeterozygousM0-9Polish111110100
99AS-73Wicher et al 2017c.8164C>T/c.11207C>Ap.(Arg2722Ter)/p.(Ser3736Ter)cLOF/cLOF10/16HeterozygousM0-9Polish110110100
100AS-74Yang et al 2017c.3902C>A/c.6436C>Tp.(Ser1301Ter)/p.(Arg2146Ter)cLOF/cLOF8/8HeterozygousM10-19Chinese110100010
101AS-74Yang et al 2017c.3902C>A/c.6436C>Tp.(Ser1301Ter)/p.(Arg2146Ter)cLOF/cLOF8/8HeterozygousM0-9Chinese100000010
102AS-75Chen et al 2017/c.10483C>Tp.(Arg578GlyfsTer17)/p.(Gln3495Ter)cLOF/cLOF8/16HeterozygousM30-39White British111111100
103AS-76Chen et al 2017c.8838C>A, c.8838C>G/p.(Asn2946Lys) (1.0%)/p.(Lys2196SerfsTer10)Ms/cLOF10/8HeterozygousF20-29White British111110000
104AS-77Chen et al 2017/c.11416C>Tp.(Thr3591LysfsTer6)/p.(Arg3806Ter)cLOF/cLOF16/16HeterozygousM40-49White British111111100
105AS-78Chen et al 2017c.8008C>T/c.10885C>Tp.(Arg2670Ter)/p.(Arg3629Ter)cLOF/cLOF10/16HeterozygousF20-29White British111110000
106AS-79Chen et al 2017c.10483C>T/p.(Gln3495Ter)/p.(Thr3591LysfsTer6)cLOF/cLOF16/16HeterozygousM40-49White British111111000
107AS-80Chen et al 2017c.11644C>T/c.1270G>Ap.(His3881Tyr) (0.1%)/p.(Val424Ile) (0.3%)Ms/Ms17/5HeterozygousF30-39White British111111000
108AS-81Chen et al 2017/p.(Ser3960PhefsTer12)/cLOF/19/HomozygousM50-59White British111111000
109AS-82Chen et al 2017c.9001C>T/p.(Gln3001Ter)/cLOF/10/HeterozygousM40-49White British110111000
110AS-83Chen et al 2017c.11449C>T/p.(Gln3817Ter)/p.(Val2300TrpfsTer43)cLOF/cLOF16/8HeterozygousM20-29White British110110000
111AS-84Chen et al 2017c.1874A>G/p.(His624Arg) (1.9%)/Ms/8/HeterozygousM40-49White British110100000
112AS-85Chen et al 2017/p.(Thr3591LysfsTer6)/p.(Asn1787Asp) (1.4%)cLOF/Ms16/8HomozygousM10-19White British110110000
113AS-86Chen et al 2017c.4148C>A, c.4148C>G/c.9001C>Tp.(Ser1382Ter)/p.(Gln3001Ter)cLOF/cLOF8/10HeterozygousF0-9White British110110000
114AS-87Chen et al 2017/p.(Thr3591IlefsTer5)/p.(Thr3591IlefsTer5)cLOF/cLOF16/16HomozygousM10-19White British111100000
115AS-88Chen et al 2017c.4937C>A,c.4937C>G/c.4937C>A,c.4937C>Gp.(Ser1646Ter)/p.(Ser1646Ter)cLOF/cLOF8/8HomozygousF0-9South Asian UK110110000
116AS-88Chen et al 2017c.4937C>A,c.4937C>G/c.4937C>A,c.4937C>Gp.(Ser1646Ter)/p.(Ser1646Ter)cLOF/cLOF8/8HomozygousM10-19South Asian UK110110000
117AS-89Chen et al 2017c.8938C>T/p.(Gln2980Ter)/p.(Asn1787Asp) (1.4%)cLOF/Ms10/8HeterozygousM10-19White British110100000
118AS-90Chen et al 2017c.2822T>A/p.(Leu940Ter)/p.(Thr2457ThrfsTer18)cLOF/cLOF8/8HeterozygousM10-19White Irish110100000
119AS-91Chen et al 2017/p.(Thr3591fsTer6)/p.(Ser1948fs)cLOF/16/8HomozygousF0-9White British110100000
120AS-92Chen et al 2017/p.(Thr3591fsTer6)/p.(Ser1948fs)cLOF/16/8HomozygousF0-9White British111100000
121AS-93Chen et al 2017/c.10483C>Tp.(Thr3591Lys fsTer6)/p.(Gln3495Ter)cLOF/cLOF16/16HeterozygousF0-9White British111100000
122AS-94Chen et al 2017c.801G>A, c.800G>A/c.11107C>Tp.(Trp267Ter)/p.(Arg3703Ter)cLOF/cLOF5/16HeterozygousF0-9White British101000000
123AS-95Chen et al 2017c.8782C>T/c.8782C>Tp.(Arg2928Ter)/p.(Arg2928Ter)cLOF/cLOF10/10HomozygousM10-19South Asian UK110100000
124AS-96Chen et al 2017c.4937C>A,c.4937C>G/c.4937C>A,c.4937C>Gp.(Ser1646Ter)/p.(Ser1646Ter)cLOF/cLOF8/8HomozygousM0-9South Asian UK111000000
125AS-97Aastuti et al, 2016c.4025_4026del/c.6325G>Tp.(Gly1342GlufsTer18)/p.(Glu2109Ter)cLOF/cLOF8/8HeterozygousF 111111100
126AS-98Aastuti et al, 2016c.4053_4054del/c.4321C>Tp.(His1351GlnfsTer5)/p.(Gln1441Ter)cLOF/cLOF8/8HeterozygousM 110011000
127AS-99Aastuti et al, 2016c.4225G>A d*/c.5081delp.(Val1409Ile)/p.(Pro1694LeufsTer39)Ms/cLOF8/8HeterozygousM 110001000
128AS-99Aastuti et al, 2016c.4225G>A d*/c.5081delp.(Val1409Ile)/p.(Pro1694LeufsTer39)Ms/cLOF8/8HeterozygousM 111101000
129AS-100Aastuti et al, 2016c.9258dup/c.5145T>Gp.(Asp3087Ter)/p.(Tyr1715Ter)cLOF/cLOF10/8HeterozygousM 001001000
130AS-101Aastuti et al, 2016c.11738dup/c.11738dupp.(Ser3914LysfsTer6)/p.(Ser3914LysfsTer6)cLOF/cLOF18/18HomozygousF 111001000
131AS-102Aastuti et al, 2016c.11881dup/p.(Ser3961PhefsTer12)/cLOF/19/HeterozygousM 111001000
132AS-103Aastuti et al, 2016c.11881dup/p.(Ser3961PhefsTer12)/cLOF/19/HeterozygousM 111101000
133AS-104Aastuti et al, 2016c.1011_1012del/c.6590delp.(Cys337Ter)/p.(Lys2197SerfsTer10)cLOF/cLOF5/8HeterozygousM 111111000
134AS-105Aastuti et al, 2016c.800G>A/c.11107C>Tp.(Trp267Ter)/p.(Arg3703Ter)cLOF/cLOF5/16HeterozygousF 101001000
135AS-106Aastuti et al, 2016c.2224dup/c.10975C>Tp.(Thr742AsnfsTer2)/p.(Arg3659Ter)cLOF/cLOF8/16HeterozygousF 110101000
136AS-107Aastuti et al, 2016c.4147_4150del/c.4147_4150delp.(Ser1383AsnfsTer19)/p.(Ser1383AsnfsTer19)cLOF/cLOF8/8HomozygousF 110011000
137AS-108Aastuti et al, 2016c.3392C>G d*/c.(7677+1_7678‐1)_(10387+1_10388‐1)delp.(Ala1131Gly)/p.(Gly2560SerfsTer46)Ms/cLOF8/8/intron 9HeterozygousF 111111100
138AS-109Aastuti et al, 2016c.6532C>T/c.11107C>Tp.(Gln2178Ter)/p.(Arg3703Ter)cLOF/cLOF8/8HeterozygousM 111111000
139AS-110Aastuti et al, 2016c.6829C>T/c.9541C>Tp.(Arg2277Ter)/p.(Arg3181Ter)cLOF/cLOF8/8HeterozygousM 110001000
140AS-111Aastuti et al, 2016c.6829C>T/c.9541C>Tp.(Arg2277Ter)/p.(Arg3181Ter)cLOF/cLOF8/8HeterozygousF 110101000
141AS-112Aastuti et al, 2016c.6901del/c.11449C>Tp.(Val2301TrpfsTer43)/p.(Gln3817Ter)cLOF/cLOF8/8HeterozygousM 110111001
142AS-113Aastuti et al, 2016c.4156dupA/c.11207C>Ap.(Thr1386AsnfsTer15)/p.(Ser3736Ter)cLOF/cLOF8/16HeterozygousF 110000000
143AS-114Aastuti et al, 2016c.8456_8817del/c.8456_8817delp.(Thr2819ArgfsTer29)/p.(Thr2819ArgfsTer29)cLOF/cLOF10/10HomozygousF 111100000
144AS-115Long et al, 2015c.4155_4156insA/c.6436C>Tp.(Thr1386fsTer15)/p.(Arg2146Ter)cLOF/cLOF8/8HeterozygousM0-9101000000
145AS-116Zmyslowska et al, 2016c.11316_11319del/c.11316_11319delp.(Glu3773TrpfsTer18)/p.(Glu3773TrpfsTer18)cLOF/cLOF16/16HomozygousM10-19110011000
146AS-117Zmyslowska et al, 2016c.8164C>T/c.11207C>Ap.(Arg2722Ter)/p.(Ser3736Ter)cLOF/cLOF10/16HeterozygousM10-19110101100
147AS-117Zmyslowska et al, 2016c.8164C>T/c.11207C>Ap.(Arg2722Ter)/p.(Ser3736Ter)cLOF/cLOF10/16HeterozygousM10-19110100100
148AS-118Zmyslowska et al, 2016c.5926del/c.11207C>Ap.(Glu1976SerfsTer8)/p.(Ser3736Ter)cLOF/cLOF8/16HeterozygousM10-19110010000
149AS-118Zmyslowska et al, 2016c.5926del/c.11207C>Ap.(Glu1976SerfsTer8)/p.(Ser3736Ter)cLOF/cLOF8/16HeterozygousM10-19110010000
150AS-119Zmyslowska et al, 2016c.1903C>T/c.11879_11880delp.(Gln635Ter)/p.(Ser3961LeufsTer11)cLOF/cLOF8/19HeterozygousF10-19111100000
151AS-119Zmyslowska et al, 2016c.1903C>T/c.11879_11880delp.(Gln635Ter)/p.(Ser3961LeufsTer11)cLOF/cLOF8/19HeterozygousF0-9111100000
152AS-120Zmyslowska et al, 2016c.11879_11880del/c.11879_11880delp.(Ser3961LeufsTer11)/p.(Ser3961LeufsTer11)cLOF/cLOF19/19HomozygousF10-19110110000
153AS-120Zmyslowska et al, 2016c.11879_11880del/c.11879_11880delp.(Ser3961LeufsTer11)/p.(Ser3961LeufsTer11)cLOF/cLOF19/19HomozygousM20-29110110000
154AS-121Zmyslowska et al, 2016c.11879_11880del/c.11879_11880delp.(Ser3961LeufsTer11)/p.(Ser3961LeufsTer11)cLOF/cLOF19/19HomozygousM10-19111010000
155AS-122Zmyslowska et al, 2016c.11107C>T/c.11316_11319delp.(Arg3703Ter)/p.(Glu3773TrpfsTer18)cLOF/cLOF16/16HeterozygousF0-9110000000
156AS-123Zmyslowska et al, 2016c.4156_4157insA/c.7373_7377delp.(Thr1386AsnfsTer15)/p.(Thr2458LysfsTer11)cLOF/cLOF8/8HeterozygousM0-9111000000
157AS-124Brofferio et al 2017/Waldman et al 2018c.11316_11319del/c.11416C>Tp.(Glu3773TrpfsTer18)/p.(Arg3806Ter) cLOF/cLOF16/16HeterozygousM0-9White110000000
158AS-124Brofferio et al 2017/Waldman et al 2018c.11316_11319del/c.11416C>Tp.(Glu3773TrpfsTer18)/p.(Arg3806Ter)cLOF/cLOF16/16HeterozygousM0-9White110100000
159AS-124Brofferio et al 2017/Waldman et al 2018c.11316_11319del/c.11416C>Tp.(Glu3773TrpfsTer18)/p.(Arg3806Ter)cLOF/cLOF16/16HeterozygousM0-9White111100000
160AS-125Brofferio et al 2017/Waldman et al 2018c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HomozygousF0-9White110000000
161AS-126Brofferio et al 2017/Waldman et al 2018c.10535G>A/c.11291C>Ap.(Trp3512Ter)/p.(Ser3764Ter)cLOF/cLOF16/16HeterozygousF0-9White111000000
162AS-127Brofferio et al 2017/Waldman et al 2018c.11316_11319del/c.7771_7772insTp.(Glu3773TrpfsTer18)/p.(Thr2592AsnfsTer3)cLOF/cLOF16/10HeterozygousF0-9White110000000
163AS-128Brofferio et al 2017/Waldman et al 2018c.4156dupA/p.(Thr1386AsnfsTer15)/cLOF/8/HeterozygousF0-9White111000000
164AS-129Brofferio et al 2017/Waldman et al 2018c.10775del/c.2234C>Gp.(Thr3592LysfsTer6)/p.(Ser745Ter)cLOF/cLOF16/8HeterozygousM0-9White111000000
165AS-130Brofferio et al 2017/Waldman et al 2018c.10265del/c.2930_2933dupp.(Pro3422GlnfsTer3)/p.(Ser979ArgfsTer13)cLOF/cLOF15/8HeterozygousM0-9White110100000
166AS-130Brofferio et al 2017/Waldman et al 2018c.10265del/c.2930_2933dupp.(Pro3422GlnfsTer3)/p.(Ser979ArgfsTer13)cLOF/cLOF15/8HeterozygousM10-19White110100000
167AS-131Brofferio et al 2017/Waldman et al 2018c.10775del/c.10775delp.(Thr3592LysfsTer6)/p.(Thr3592LysfsTer6)cLOF/cLOF16/16HomozygousF0-9White111101000
168AS-132Brofferio et al 2017/Waldman et al 2018c.4156dupA/c.4156dupp.(Thr1386AsnfsTer15)/p.(Thr1386AsnfsTer15)cLOF/cLOF8/8HeterozygousM0-9White110101000
169AS-133Brofferio et al 2017/Waldman et al 2018c.5145T>G/c.3754C>Tp.(Tyr1715Ter)/p.(Gln1252Ter)cLOF/cLOF8/8HeterozygousF10-19White111001000
170AS-134Brofferio et al 2017/Waldman et al 2018c.8352_8355del/c.6436C>Tp.(Glu2785Ter)/p.(Arg2146Ter)cLOF/cLOF10/8HeterozygousM10-19White110100000
171AS-135Brofferio et al 2017/Waldman et al 2018c.9328C>T/c.10549C>Tp.(Gln3110Ter)/p.(Gln3517Ter)cLOF/cLOF10/16HeterozygousF10-19AA111100000
172AS-136Brofferio et al 2017/Waldman et al 2018c.10539_10557ins(n)19/c.10539_10557ins(n)19p.(Lys3545AsnfsTer18)/p.(Lys3545AsnfsTer18)cLOF/cLOF16/16HomozygousF10-19White111101000
173AS-137Brofferio et al 2017/Waldman et al 2018c.6436C>T/c.6436C>Tp.(Arg2146Ter)/p.(Arg2146Ter)cLOF/cLOF8/8HomozygousF10-19As110100000
174AS-138Brofferio et al 2017/Waldman et al 2018c.4885C>T/c.5923C>Tp.(Gln1629Ter)/p.(Gln1975Ter)cLOF/cLOF8/8HeterozygousF10-19AA111100000
175AS-138Brofferio et al 2017/Waldman et al 2018c.4885C>T/c.5923C>Tp.(Gln1629Ter)/p.(Gln1975Ter)cLOF/cLOF8/8HeterozygousM10-19AA001001000
176AS-139Brofferio et al 2017/Waldman et al 2018c.592C>T/c.1610_1611delp.(Gln198Ter)/p.(Leu538Glnfs22)cLOF/8/8HeterozygousM10-19White101000000
177AS-139Brofferio et al 2017/Waldman et al 2018c.592C>T/c.1610_1611delp.(Gln198Ter)/p.(Leu538Glnfs22)cLOF/8/8HeterozygousM10-19White101100000
178AS-140Brofferio et al 2017/Waldman et al 2018c.11651_11652insGTTA/c.9900dupp.(Asn3885LeufsTer9)/p.(Ser3301LeufsTer7)cLOF/cLOF17/13HeterozygousF10-19White110101000
179AS-141Brofferio et al 2017/Waldman et al 2018c.10539_10557ins(n)19/c.11416C>Tp.(His3512fs)/p.(Arg3806Ter)Ms/cLOF16/16HeterozygousF10-19White111100000
180AS-142Brofferio et al 2017/Waldman et al 2018c.6305C>A/c.10775delp.(Ser2102Ter)/p.(Thr3592LysfsTer6)cLOF/cLOF8/16HeterozygousF10-19White011101000
181AS-143Brofferio et al 2017/Waldman et al 2018c.10849G>T/c.10483C>Tp.(Glu3617Ter)/p.(Gln3495Ter)cLOF/cLOF16/16HeterozygousM10-19White101101000
182AS-144Brofferio et al 2017/Waldman et al 2018c.10775del/c.3716_3719delp.(Thr3592LysfsTer6)/p.(Ser1240ThrfsTer23)cLOF/cLOF16/8HeterozygousM10-19White111101000
183AS-145Brofferio et al 2017/Waldman et al 2018c.4180C>T/c.4180C>Tp.(Gln1394Ter)/p.(Gln1394Ter)cLOF/cLOF8/8HomozygousF10-19White110100000
184AS-146Brofferio et al 2017/Waldman et al 2018c.11314dupA/c.10885C>Tp.(Arg3772TrpfsTer10)/p.(Arg3629Ter)cLOF/cLOF16/16HeterozygousF20-29White011100000
185AS-147Brofferio et al 2017/Waldman et al 2018c.5311C>T/c.5311C>Tp.(Gln1769Ter)/p.(Gln1769Ter)cLOF/cLOF8/8HomozygousM20-29White011101000
186AS-148Brofferio et al 2017/Waldman et al 2018c.11651_11652insGTTA/c.4817delp.(Asn3885LeufsTer9)/p.(Lys1608ArgfsTer9)cLOF/cLOF17/8HeterozygousF20-29White111100000
187AS-149Brofferio et al 2017/Waldman et al 2018c.11313_11316del/c.2329C>Tp.(Asp3771GlufsTer20)/p.(Gln777Ter)cLOF/cLOF16/8HeterozygousF20-29White111101000
188AS-150Brofferio et al 2017/Waldman et al 2018c.8394_8395insA/c.9194T>Gp.(Leu2799IlefsTer4)/p.(Leu3065Ter)cLOF/cLOF10/10HeterozygousF20-29White111100000
189AS-151Brofferio et al 2017/Waldman et al 2018c.1903C>T/c.3579C>Gp.(Gln635Ter)/p.(Tyr1193Ter)cLOF/cLOF8/8HeterozygousM30-39White111100000
190AS-152Brofferio et al 2017/Waldman et al 2018c.10849G>T/c.3019dupp.(Glu3617Ter)/p.(Arg1007LysfsTer15)cLOF/cLOF16/8HeterozygousM30-39White111101000
191AS-153Brofferio et al 2017/Waldman et al 2018c.5283del/c.10483C>Tp.(His1762IfsTer24)/p.(Gln3495Ter)cLOF/cLOF8/16HeterozygousF30-39White110101000
192AS-153Brofferio et al 2017/Waldman et al 2018c.5283del/c.10483C>Tp.(His1762IfsTer24)/p.(Gln3495Ter)cLOF/cLOF8/16HeterozygousM30-39White110101000
193AS-154Brofferio et al 2017/Waldman et al 2018c.4039C>T/c.5145T>Gp.(Gln1347Ter)/p.(Tyr1715Ter)cLOF/cLOF8/8HeterozygousF30-39White111101000
194AS-155Brofferio et al 2017/Waldman et al 2018c.7374_7375del/c.7374_7375delp.(Asp2459Ter)/p.(Asp2459Ter)cLOF/cLOF8/8HomozygousM30-39White110100000
195AS-156Tsai et al 2018c.10290_10291del/c.10823_10824delp.(Lys3431SerfsTer10)/p.(Lys3431SerfsTer10)cLOF/cLOF15/16HeterozygousM10-19Taiwanese111011000
196AS-157Kavitha et al 2019c.2041C>T/c.2090C>Ap.(Arg681Ter)/p.(Ser697Ter)cLOF/cLOF8/8HeterozygousF0-9Chinese110100000
197AS-158Kavitha et al 2019c.6169_6170dupAT/c.9541C>Tp.(Leu2058PhefsTer17)/p.(Arg3181Ter)cLOF/cLOF8/10HeterozygousM0-9Chinese110100000
198AS-159Kavitha et al 2019c.2041C>T/c.8653C>Tp.(Arg681Ter)/p.(Gln2885Ter)cLOF/cLOF8/10HeterozygousF0-9Chinese110000000
199AS-160Kavitha et al 2019c.3472C>T/c.2000_2001dupp.(Gln1158Ter)/p.(Thr668LeufsTer7)cLOF/cLOF8/8HeterozygousM0-9Chinese111100000
200AS-161Kavitha et al 2019c.3902C>A/c.11852dupp.(Ser1301Ter)/p.(Asn3952GlufsTer7)cLOF/cLOF8/18HeterozygousM0-9Chinese111000001
201AS-162Kavitha et al 2019c.5701_5704del/c.5418delp.(Glu1901ArgfsTer18)/p.(Tyr1807ThrfsTer23)cLOF/cLOF8/8HeterozygousM10-19Chinese110001000
202AS-163Kavitha et al 2019c.10831_10832del/c.10800_10803delp.(Arg3611AlafsTer6)/p.(Glu3601CysfsTer60)cLOF/cLOF16/16HeterozygousM0-9Chinese110000000
203AS-164Kavitha et al 2019c.7499dupT/c.2438C>Gp.(Leu2501ThrfsTer25)/p.(Ser813Ter)cLOF/cLOF8/8HeterozygousF0-9Chinese111000000
204AS-165Kavitha et al 2019c.2090C>A/c.2090C>Ap.(Ser697Ter)/p.(Ser697Ter)cLOF/cLOF8/8HomozygousM0-9Chinese100100000
205AS-166Kavitha et al 2019c.9154_9155del/c.12034delp.(Cys3053SerfsTer9)/p.(Leu4012TrpfsTer19)cLOF/cLOF10/19HeterozygousM0-9Chinese110100000
206AS-167Kavitha et al 2019c.6784G>T/c.7640_7641delp.(Glu2262Ter)/p.(Glu2547ValfsTer9)cLOF/cLOF8/8HeterozygousM0-9Chinese100100000
207AS-168Kavitha et al 2019c.3226_3232del/c.7670T>Ap.(Lys1076GlnfsTer10)/p.(Leu2557Ter)cLOF/cLOF8/8HeterozygousM0-9Chinese110000000
208AS-169Kavitha et al 2019c.10975C>T/c.10825C>Tp.(Arg3659Ter)/p.(Arg3609Ter)cLOF/cLOF16/16HeterozygousF0-9Chinese110110000
209AS-170Kavitha et al 2019c.4414_4415del/p.(Val1472AsnfsTer26)/cLOF/8/HeterozygousF10-19Chinese110100000
210AS-171Kavitha et al 2019c.10825C>T/c.3733A>Tp.(Arg3609Ter)/p.(Lys1245Ter)cLOF/cLOF16/8HeterozygousF0-9Chinese110000000
211AS-172Kavitha et al 2019c.5311C>T/c.2281C>Tp.(Gln1771Ter)/p.(Gln761Ter)cLOF/cLOF8/8HeterozygousF0-9Chinese110100000
212AS-173Kavitha et al 2019c.10549C>T/c.2090C>Ap.(Gln3517Ter)/p.(Ser697Ter)cLOF/cLOF16/8HeterozygousM0-9Chinese110100001
213AS-173Kavitha et al 2019c.10549C>T/c.2090C>Ap.(Gln3517Ter)/p.(Ser697Ter)cLOF/cLOF16/8HeterozygousF0-9Chinese101100000
214AS-174Kavitha et al 2019c.10549C>T/c.6829C>Tp.(Gln3517Ter)/p.(Arg2277Ter)cLOF/cLOF16/8HeterozygousM0-9Chinese111100000
215AS-175Kavitha et al 2019c.4917_4920del/c.11116_11134delp.(Asn1639LysfsTer4)/p.(Arg3706LeufsTer11)cLOF/cLOF8/16HeterozygousF10-19Chinese110111001
216AS-176Kavitha et al 2019c.5055dupA/c.8047G>Tp.(Pro1686ThrfsTer2)/p.(Glu2683Ter)cLOF/cLOF8/10HeterozygousM20-29Chinese110111000
217AS-177Shahram et al 2019c.7262G>T H/c.7304_7305delp.(Ser2421Ile)/p.(Glu2435ValfsTer7)Ms/cLOF8/8HeterozygousF10-19Iranian111100000
218AS-178Shurygina et al 2019c.9900dupC/c.10775delp.(Ser3301LeufsTer7)/p.(Thr3592LysfsTer6)cLOF/cLOF12/16HeterozygousM20-29White North American110000001
219AS-178Shurygina et al 2019c.9900dupC/c.10775delp.(Ser3301LeufsTer7)/p.(Thr3592LysfsTer6)cLOF/cLOF12/16HeterozygousM20-29White North American110100100
220AS-179Weiss et al 2019c.11544+3A>T/c.11544+3A>Tnear splice site/near splice siteintronic/intronicintron 16/intron 16HomozygousM10-19Yemenite-Jewish111010000
221AS-180Gatticchi et al 2020 c.1196_1202del/c.11316_11319delp.(Thr400LysfsTer11)/p.(Glu3773TrpfsTer18)cLOF/cLOF5/16HeterozygousF0-9Italian100000100
222AS-181Lombardo et al 2020c.1196_1202del/c.1196_1202delp.(Thr400LysfsTer11)/p.(Thr400LysfsTer11)cLOF/cLOF5/5HomozygousM50-59Italian111101000
223AS-181Lombardo et al 2020c.1196_1202del/c.1196_1202delp.(Thr400LysfsTer11)/p.(Thr400LysfsTer11)cLOF/cLOF5/5HomozygousM50-59Italian111100000
224AS-182Mauring et al 2020c.286C>T/c.1211C>Gp.(Gln96Ter)/p.(Ser404Ter)cLOF/cLOF1/5HeterozygousF10-19French101100000
225AS-183Naglaa et al 2020c.1159A>T H*/c.2759C>G H*//5/8HeterozygousM0-9Arabic111111000
226AS-183Naglaa et al 2020c.1159A>T H*/c.2759C>G H*//5/8HeterozygousM0-9Arabic111011000
227AS-184Naglaa et al 2020c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF10-19Arabic111111000
228AS-184Naglaa et al 2020c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousM10-19Arabic111110000
229AS-184Naglaa et al 2020c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF10-19Arabic111111000
230AS-185Spinelli et al 2020c.11717_11720del/c.6149_6154delp.(Val3906GlyfsTer2)/p.(Ser2050Ter)cLOF/cLOF18/8HeterozygousF0-9Italian001000000
231AS-186Zhou et al 2020c.2994_2995del/c.9541C>Tp.(Val999ThrfsTer8)/p.(Arg3181Ter)cLOF/cLOF8/10HeterozygousM 10-19Chinese110100000
232AS-187Kılınç et al 2018c.2265dup/c.2265dupp.(Glu756Ter)/p.(Glu756Ter)cLOF/cLOF8/8HomozygousF10-19111010001
233AS-187Kılınç et al 2018c.2265dup/c.2265dupp.(Glu756Ter)/p.(Glu756Ter)cLOF/cLOF8/8HomozygousF20-29110111001
234AS-188Kılınç et al 2018c.6547C>T/c.11666-2A>Gp.(Gln2183Ter)/splice sitecLOF/intronic8/intron 17HeterozygousF10-19111011001
235AS-189Kılınç et al 2018c.2041C>T/c.2041C>Tp.(Arg681Ter)/p.(Arg681Ter)cLOF/cLOF8/8HomozygousF10-19100010000
236AS-190Kılınç et al 2018c.2265dup/c.2265dupp.(Glu756Ter)/p.(Glu756Ter)cLOF/cLOF8/8HomozygousM10-19110010000
237AS-191Kılınç et al 2018c.5975C>G/c.5975C>Gp.(Ser1992Ter)/p.(Ser1992Ter)cLOF/cLOF8/8HomozygousM10-19111110000
238AS-192Hirano et al 2020c.2758C>T/c.8782C>Tp.(Gln920Ter)/p.(Arg2928Ter)cLOF/cLOF8/10HeterozygousM10-19Japanase111000000
239AS-193Özgül et al 2007c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF30-39111011100
240AS-193Özgül et al 2007c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF30-39111111100
241AS-193Özgül et al 2007c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF20-29111111100
242AS-194Piñeiro-Gallego et al 2012c.1847C>G/c.5145T>Gp.(Ser616Ter)/p.(Tyr1715Ter)cLOF/cLOF8/8HeterozygousF30-39Spanish110100001
243AS-195Piñeiro-Gallego et al 2012c.5465 C>T/p.(Pro1822Leu)/Ms/8/HeterozygousM40-49Spanish110000000
244AS-196Piñeiro-Gallego et al 2012c.10790_10791del/c.10790_10791delp.(Val3597GlufsTer4)/p.(Val3597GlufsTer4)cLOF/cLOF16/16HomozygousF10-19Spanish110110010
245AS-197Sanyoura et al 2013IVS18-3T>G/IVS18-3T>GV3958fs3964X/V3958fs3964X/intron 18/intron 18HomozygousM10-19Lebanese110110001
246AS-198Das Bhowmik et al 2016c.2822T>A/c.2822T>Ap.(Leu941Ter)/p.(Leu941Ter)cLOF/cLOF8/8HomozygousM0-9111000000
247AS-199Wang et al 2016c.2822T>A/c.8782C>Tp.(Leu941Ter)/p.(Arg2928Ter)cLOF/cLOF8/10HeterozygousM0-9100100000
248AS-200Maltese et al 2017c.4648dup/c.4648dupp.(Arg1550LysfsTer10)/p.(Arg1550LysfsTer10)cLOF/cLOF8/8HomozygousF20-29110110010
249AS-201Nasser et al 2018c.1046G>A/c.1046G>Ap.(Trp349Ter)/p.(Trp349Ter)cLOF/cLOF5/5HomozygousF20-29100000000
250AS-201Nasser et al 2018c.1046G>A/c.1046G>Ap.(Trp349Ter)/p.(Trp349Ter)cLOF/cLOF5/5HomozygousF20-29111110000
251AS-202Nasser et al 2018c.1897dup/c.6571_6574delp.(Tyr633LeufsTer9)/p.(Ser2191MetfsTer15)cLOF/cLOF8/8HeterozygousM0-9110111100
252AS-203Nasser et al 2018c.8782C>T/c.11385delp.(Phe3795LeufsTer38)/p.(Phe3795LeufsTer38)cLOF/cLOF10/16HeterozygousM10-19111111101
253AS-204Nasser et al 2018c.7141C>T/c.7141C>Tp.(Gln2381Ter)/p.(Gln2381Ter)cLOF/cLOF8/8HomozygousF20-29111000000
254AS-205Nasser et al 2018c.2317_2318del/c.2317_2318delp.(Ile773PhefsTer13)/p.(Ile773PhefsTer13)cLOF/cLOF8/8HomozygousM20-29110101000
255AS-206Nasser et al 2018c.5283del/c.5283delp.(His1762IlefsTer18)/p.(His1762IlefsTer18)cLOF/cLOF8/8HomozygousF10-19111100000
256AS-207Bahmad et al 2014c.7942C>T/c.9163A>Tp.(Gln2648Ter)/p.(Lys3055Ter)cLOF/cLOF10/10HeterozygousM30-39Caucasian Brazilian111100001
257AS-207Bahmad et al 2014c.7942C>T/c.9163A>Tp.(Gln2648Ter)/p.(Lys3055Ter)cLOF/cLOF10/10HeterozygousM20-29Caucasian Brazilian111110001
258AS-208Hollander et al 2017c.2822T>A/c.10843_10844delp.(Leu941Ter)/p.(Gln3615AlafsTer2)cLOF/cLOF8/16HeterozygousF0-9Peruvian101000000
259AS-208Hollander et al 2017c.2822T>A/c.10843_10844delp.(Leu941Ter)/p.(Gln3615AlafsTer2)cLOF/cLOF8/16HeterozygousF0-9Peruvian111000100
260AS-209Wang et al 2011c.10945G>T/c.10945G>Tp.(Glu3649Ter)/p.(Glu3649Ter)cLOF/cLOF16/16HomozygousF Saudi Arabia100000000
261AS-209Wang et al 2011c.10945G>T/c.10945G>Tp.(Glu3649Ter)/p.(Glu3649Ter)cLOF/cLOF16/16HomozygousM Saudi Arabia100000000
262AS-209Wang et al 2011c.10945G>T/c.10945G>Tp.(Glu3649Ter)/p.(Glu3649Ter)cLOF/cLOF16/16HomozygousM Saudi Arabia100000000
263AS-209Wang et al 2011c.10945G>T/c.10945G>Tp.(Glu3649Ter)/p.(Glu3649Ter)cLOF/cLOF16/16HomozygousF Saudi Arabia100000000
264AS-210Wang et al 2011c.10945G>T/c.10945G>Tp.(Glu3649Ter)/p.(Glu3649Ter)cLOF/cLOF16/16HomozygousM Saudi Arabia100000000
265AS-210Wang et al 2011c.10945G>T/c.10945G>Tp.(Glu3649Ter)/p.(Glu3649Ter)cLOF/cLOF16/16HomozygousF Saudi Arabia100000000
266AS-211Kocova et al 2011c.5283del/c.8039G>Ap.(His1762IlefsTer18)/p.(Trp2680Ter)cLOF/cLOF8/10HeterozygousF10-19111111101
267AS-212Tasdemir et al 2013c. 9749C>A/c. 9749C>Ap.(Ser3250Ter)/p.(Ser3250Ter)cLOF/cLOF11/11HomozygousM10-19Turkey101110000
268AS-213Mahamid et al 2013c.8008C>T/c.8008C>T p.(Arg2670Ter)/ p.(Arg2670Ter)cLOF/cLOF10/10HomozygousM0-9Saudi Arabia111000100
269AS-213Mahamid et al 2013c.8008C>T/c.8008C>T p.(Arg2670Ter)/ p.(Arg2670Ter)cLOF/cLOF10/10HomozygousM0-9Saudi Arabia101000100
270AS-214Kaya et al 2014c.2905_2906insT/c.5586T>Gp.(Glu969ValfsTer6)/p.(Tyr1862Ter)cLOF/cLOF8/8HeterozygousF10-19110110100
271AS-215Sathya priya et al 2014 c.11120C>G /c.11120C>G p.(Ser3707Cys)/p.(Ser3707Cys)Ms/Ms16/16Homozygous0-9India110000001
272AS-216Sathya priya et al 2014 c.10885C>T /c.10885C>T p.(Arg3629Ter)/p.(Arg3629Ter)cLOF/cLOF16/16Homozygous0-9India110000000
273AS-217Louw et al 2014c.7760del/c.7760delp.(Cys2587PhefsTer5)/p.(Cys2587PhefsTer5)cLOF/cLOF8/8Homozygous0-9Turkey001000000
274AS-217Louw et al 2014c.7760del/c.7760delp.(Cys2587PhefsTer5)/p.(Cys2587PhefsTer5)cLOF/cLOF8/8Homozygous0-9Turkey001000000
275AS-218Nikopoulosa et al 2015hg19 chr2:g.73,772,326_73,813,435del/hg19 chr2:g.73,772,326_73,813,435del//13-16/13-16HomozygousM10-19111111101
276AS-218Nikopoulosa et al 2016hg19 chr2:g.73,772,326_73,813,435del/hg19 chr2:g.73,772,326_73,813,435del//13-17/13-17HomozygousM0-9101010001
277AS-219Khan et al 2015c.7942C>T/c.7942C>Tp.(Gln2648Ter)/p.(Gln2648Ter)cLOF/cLOF10/10HomozygousM0-9Saudi Arabia110000000
278AS-220Khan et al 2015c.2737_2740del/c.2737_2740delp.(Glu913SerfsTer20)/p.(Glu913SerfsTer20)cLOF/cLOF8/8HomozygousM0-9Saudi Arabia110000000
279AS-221Khan et al 2015c.6305C>A/c.6305C>Ap.(Ser2102Ter)/p.(Ser2102Ter)cLOF/cLOF8/8HomozygousM0-9Saudi Arabia100000000
280AS-222Khan et al 2015c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T)splice site (exon skipping)/splice site (exon skipping)intronic/intronicintron 18/intron 18HomozygousM0-9Saudi Arabia100110000
281AS-222Khan et al 2015c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T)splice site (exon skipping)/splice site (exon skipping)intronic/intronicintron 18/intron 18HomozygousF0-9Saudi Arabia100000000
282AS-223Khan et al 2015c.8782C>T/c.8782C>Tp.(Arg2928Ter)/p.(Arg2928Ter)cLOF/cLOF10/8HeterozygousF0-9Saudi Arabia111000000
283AS-224Khan et al 2015c.6305C>A/c.6305C>Ap.(Ser2102Ter)/p.(Ser2102Ter)cLOF/cLOF8/8HomozygousM0-9Saudi Arabia110000100
284AS-225Khan et al 2015c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousM0-9Saudi Arabia101000000
285AS-226Khan et al 2015c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HeterozygousM0-9Saudi Arabia101000000
286AS-227Khan et al 2015c.11732del/c.11732delp.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16)cLOF/cLOF18/18HomozygousM0-9Saudi Arabia110000000
287AS-227Khan et al 2015c.11732del/c.11732delp.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16)cLOF/cLOF18/18HeterozygousF0-9Saudi Arabia100000000
288AS-227Khan et al 2015c.11732del/c.11732delp.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16)cLOF/cLOF18/18HomozygousM0-9Saudi Arabia100000000
289AS-227Khan et al 2015c.11732del/c.11732delp.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16)cLOF/cLOF18/18HomozygousF0-9Saudi Arabia100000000
290AS-228Khan et al 2015c.5423C>G/c.5423C>Gp.(Ser1808Ter)/p.(Ser1808Ter)cLOF/cLOF8/8HomozygousM0-9Saudi Arabia111000000
291AS-229Khan et al 2015c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T)splice site (exon skipping)/splice site (exon skipping)intronic/intronicintron 18/intron 18HeterozygousF0-9Saudi Arabia110000000
292AS-229Khan et al 2015c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T)splice site (exon skipping)/splice site (exon skipping)intronic/intronicintron 18/intron 18HomozygousM10-19Saudi Arabia110100000
293AS-229Khan et al 2015c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T)splice site (exon skipping)/splice site (exon skipping)intronic/intronicintron 18/intron 18HomozygousM10-19Saudi Arabia110100000
294AS-230Khan et al 2015c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousM10-19Saudi Arabia111100000
295AS-231Khan et al 2015c.11732del/c.11732delp.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16)cLOF/cLOF18/18HomozygousM10-19Saudi Arabia110000000
296AS-232Dotan et al 2017c.10483C>T/c.10483C>Tp.(Gln3495Ter)/p.(Gln3495Ter)cLOF/cLOF16/16Homozygous0-9111000000
297AS-233Dotan et al 2017c.4156dup/p.(Thr1386AsnfsTer15)/cLOF/8/HeterozygousM0-9110000000
298AS-234Dotan et al 2017c.2930_2933dup/c.10265delp.(Ser979ArgfsTer13)/p.(Pro3422GlnfsTer3)cLOF/cLOF8/15Heterozygous0-9110100000
299AS-235Dotan et al 2017c.10483C>T/p.(Gln3495Ter)/cLOF/16/Heterozygous0-9110100000
300AS-236Dotan et al 2017c.4156dup/c.4156dupp.(Thr1386AsnfsTer15)/p.(Thr1386AsnfsTer15)cLOF/cLOF8/8Homozygous0-9111100000
301AS-237Dotan et al 2017c.5145T>G/c.3754C>Tp.(Tyr1715Ter)/p.(Gln1252Ter)cLOF/cLOF8/8Heterozygous0-9110100000
302AS-238Dotan et al 2017c.4917_4920del/c.3518C>Gp.(Asn1639LysfsTer4)/p.(Ser1173Ter)cLOF/cLOF8/8Heterozygous10-19110100000
303AS-239Dotan et al 2017c.10775del/p.(Thr3592LysfsTer6)/cLOF/16/Heterozygous10-19110100000
304AS-240Dotan et al 2017c.6436C>T/p.(Arg2146Ter)/cLOF/8/HeterozygousM10-19111100000
305AS-234Dotan et al 2017c.2930_2933dup/c.10265delp.(Ser979ArgfsTer13)/p.(Pro3422GlnfsTer3)cLOF/cLOF8/15Heterozygous10-19110100000
306AS-241Dotan et al 2017c.3251_3258del/c.4917_4920delp.(Ala1084AspfsTer3)/p.(Asn1639LysfsTer4)cLOF/cLOF8/8Heterozygous10-19110100000
307AS-242Dotan et al 2017c.2676del/c.2159delp.(Gly893AspfsTer41)/p.(Arg720LysfsTer60)cLOF/cLOF8/8Heterozygous10-19110100000
308AS-243Dotan et al 2017c.10539_10557ins(n)19/c.11416C>Tp.His3512fs/p.(Arg3806Ter)/cLOF16/16Heterozygous10-19110100000
309AS-244Dotan et al 2017del/c.5145T>GDelection fo exon 17/p.(Tyr1715Ter)/cLOFintron 17/8Heterozygous20-29111100000
310AS-245Dotan et al 2017c.7376_7379del/c.7376_7379delp.(Asp2459AlafsTer18)/p.(Asp2459AlafsTer18)cLOF/cLOF8/8Homozygous20-29111100000
311AS-246Dotan et al 2017c.11651_11652insGTTA/c.4823delp.(Asn3885LeufsTer9)/p.(Lys1608ArgfsTer9)cLOF/cLOF17/8Heterozygous20-29111100000
312AS-247Dotan et al 2017c.4213G>T/c.4213G>Tp.(Glu1405Ter)/p.(Glu1405Ter)cLOF/cLOF8/8Homozygous30-39110100000
313AS-248Dotan et al 2017c.11385del/c.3153C>Ap.(Phe3795LeufsTer38)/p.(Tyr1051Ter)cLOF/cLOF16/16Heterozygous30-39111100000
314AS-249Dotan et al 2017c.11385del/c.11385delp.(Phe3795LeufsTer38)/p.(Phe3795LeufsTer38)cLOF/cLOF16/16Homozygous30-39111100000
315AS-250Dotan et al 2017c.7942C>T/c.9163A>Tp.(Gln2648Ter)/p.(Lys3055Ter)cLOF/cLOF10/10Heterozygous30-39110100000
316AS-251Dotan et al 2017c.10483C>T/c.5283delp.(Gln3495Ter)/p.(His1762IlefsTer18)cLOF/cLOF16/8Heterozygous30-39110100000
317AS-252Dotan et al 2017c.7375_7376del/c.7375_7376delp.(Asp2459Ter)/p.(Asp2459Ter)cLOF/cLOF8/8Homozygous 000000000
318AS-253Castro-Sánchez et al 2017c.8008C>T/c.8008C>Tp.(Arg2670Ter)/p.(Arg2670Ter)cLOF/cLOF10/10HomozygousF Iranian110000000
319AS-254Jinda et al 2017c.3902C>A/c.8047G>Tp.(Ser1301Ter)/p.(Glu2683Ter)cLOF/cLOF8/10HeterozygousM0-9Thai111100100
320AS-255Jinda et al 2017c.3902C>A/c.3902C>Ap.(Ser1301Ter)/p.(Ser1301Ter)cLOF/cLOF8/8HomozygousM0-9Thai110100000
321AS-256Wang et al 2016c.3902C>A/c.4912_4915delp.(Ser1301Ter)/p.(Leu1638IlefsTer5)cLOF/cLOF8/8HeterozygousM0-9Chinese100000000
322AS-257Kvarnung et al 2018c.7316C>A/c.7316C>Ap.(Ser2439Ter)/p.(Ser2439Ter)cLOF/cLOF8/8HomozygousM 111000000
323AS-257Kvarnung et al 2018c.7316C>A/c.7316C>Ap.(Ser2439Ter)/p.(Ser2439Ter)cLOF/cLOF8/8HomozygousF 111000000
324AS-258Sánchez-Navarro et al 2018c.4252del/c.4252delp.(Arg1418GlyfsTer55)/p.(Arg1418GlyfsTer55)cLOF/cLOF8/8HomozygousF20-29110101001
325AS-259Sánchez-Navarro et al 2018c.4477G>T/c.7571_7572delp.(Glu1493Ter)/p.(His2524ArgfsTer11)cLOF/cLOF8/9HeterozygousM0-9111000000
326AS-260Sánchez-Navarro et al 2018c.808C>T/c.11618_11619delp.(Arg270Ter)/p.(Ser3873TyrfsTer19)cLOF/cLOF5/17HeterozygousF40-49101100000
327AS-261Torkamandi et al 2020c.7262G>T H*/c.7304_7305delp.(Ser2421Ile)/p.(Glu2435ValfsTer7)Ms/cLOF8/8HeterozygousF10-19Iranian111101000
328AS-262Hull et al 2020c.571C>A/c.571C>Ap.(Leu191Met)/p.(Leu191Met)Ms/Ms3/3Homozygous10-19Samoan110000000
329AS-263Kamal et al 2020c.1129A>T/c.2729C>Gp.(Thr377Ser)/p.(Ser910Ter)Ms/cLOF5/8HeterozygousM0-9Saudi Arabia111111000
330AS-263Kamal et al 2020c.1129A>T/c.2729C>Gp.(Thr377Ser)/p.(Ser910Ter)Ms/cLOF5/8HeterozygousM0-9Saudi Arabia111011000
331AS-264Kamal et al 2020c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF10-19Saudi Arabia111111000
332AS-265Kamal et al 2020c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousM10-19Saudi Arabia111110000
333AS-265Kamal et al 2020c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10HomozygousF10-19Saudi Arabia111111000
334AS-266Saadah et al 2021c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousM10-19Saudi Arabia111100000
335AS-266Saadah et al 2021c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousM10-19Saudi Arabia111100000
336AS-266Saadah et al 2021c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousF0-9Saudi Arabia110000000
337AS-267Saadah et al 2021c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousF10-19Saudi Arabia110000011
338AS-267Saadah et al 2021c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousM0-9Saudi Arabia100000001
339AS-267Saadah et al 2021c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousM0-9Saudi Arabia110000001
340AS-268Srikrupa et al 2021c.1906G>T/c.1906G>Tp.(Glu636Ter)/p.(Glu636Ter)intronic/cLOF8/8HomozygousF10-19100000000
341AS-269Srikrupa et al 2021c.6840del/c.6840delp.(Pro2281LeufsTer63)/p.(Pro2281LeufsTer63)cLOF/cLOF8/8HomozygousM10-19100000000
342AS-270Bea-Mascato et al 2021c.2788G>T/c.2788G>Tp.(Glu930Ter)/p.(Glu930Ter)cLOF/cLOF8/8HomozygousF10-19Spanish111000100
343AS-271Bea-Mascato et al 2021c.5425_5428del/c.5425_5428delp.(His1809GlufsTer20)/p.(His1809GlufsTer20)cLOF/cLOF8/8HomozygousM0-9Spanish111000000
344AS-272Wang et al 2021c.6161_6162insTA/c.10823_10824 delp.(Lys2054AsnfsTer21)/p.(Glu3608AlafsTer9)cLOF/cLOF8/16HeterozygousF0-9Chinese110100010
345AS-273Zhang et al 2021c.2296_2299del/c.11460C>Ap.(Ser766LysfsTer13)/p.(Tyr3820Ter)cLOF/cLOF8/16HeterozygousF0-9Chinese111111101
346AS-274Aldahmesh et al 2009c.5423C>G/c.5423C>Gp.(Ser1808Ter)/p.(Ser1808Ter)cLOF/cLOF8/8HomozygousM0-9Saudi Arabia110000000
347AS-275Aldahmesh et al 2009c.5873_5876del/c.5873_5876delp.(Asp1958ValfsTer8)/p.(Asp1958ValfsTer8)cLOF/cLOF8/8HomozygousM0-9Saudi Arabia111000000
348AS-276Aldahmesh et al 2009c.8164C>T/c.8164C>Tp.(Arg2722Ter)/p.(Arg2722Ter)cLOF/cLOF10/10Homozygous0-9Saudi Arabia101000000
349AS-277Aldahmesh et al 2009c.11870-2 A>T/c.11870-2 A>TSplice site (Exon skipping)/Splice site (Exon skipping)intronic/intronicintron 18/intron 18HomozygousF10-19Saudi Arabia111000010