Alström syndrome database
Web application where the genotypic and phenotypic information of 357 cases described in the biliography of patients with Alström syndrome is collected.TOM:Type of mutation; VI: Vision Impairments; MT: Metabolic anomalies; HL: Hearing anomalies; HRT: Heart anomalies; LIV: Liver anomalies; REN: Renal anomalies; MEND: Mental anomalies; PUL: Pulmonary anomalies; REP: Reproductive system anomalies
| Patient | Families | Reference_Patient | c.DNA_mutations | Protein_mutations | TOM | Exon | Genotype_status | Sex | Age | Ethnicity | VI | MT | HL | HRT | LIV | REN | MEND | PUL | REP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | AS-1 | Aliferis et al 2011 | c.9052del/c.9052del | p.(Asn3018IlefsTer14)/p.(Asn3018IlefsTer14) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | French | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 |
| 2 | AS-2 | Aliferis et al 2011 | c.11316_11319del/c.11316_11319del | p.(Glu3773TrpfsTer18)/p.(Glu3773TrpfsTer18) | cLOF/cLOF | 16/16 | Homozygous | M | 0-9 | French | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 3 | AS-3 | Aliferis et al 2011 | c.2299C>T/c.2299C>T | p.(Gln767Ter)/p.(Gln767Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | French | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 4 | AS-4 | Aliferis et al 2011 | c.6828_6829insA/c.6828_6829insA | p.(Arg2277ThrfsTer15)/p.(Arg2277ThrfsTer15) | cLOF/cLOF | 8/8 | Homozygous | F | 0-9 | French | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 5 | AS-5 | Bakar et al 2017 | c.12154_12166del/c.12154_12166del | p.(Arg4052GlyfsTer2)/p.(Arg4052GlyfsTer2) | cLOF/cLOF | 20/20 | Homozygous | F | 10-19 | Saudi Arabia | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 |
| 6 | AS-6 | Fayez et al 2014 | c.7942C>T/c.9163A>T | p.(Gln2648Ter)/p.(Lys3055Ter) | cLOF/cLOF | 10/10 | Heterozygous | M | 30-39 | Caucasian Brazilian | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 |
| 7 | AS-6 | Fayez et al 2014 | c.7942C>T/c.9163A>T | p.(Gln2648Ter)/p.(Lys3055Ter) | cLOF/cLOF | 10/10 | Heterozygous | M | 20-29 | Caucasian Brazilian | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 1 |
| 8 | AS-7 | Casey et al 2014 | c.777del/c.12145_12146insC | p.(Asp260IlefsTer26)/p.(Phe4049SerfsTer36) | cLOF/cLOF | 5/20 | Heterozygous | F | 10-19 | Irish | 1 | 0 | 0 | 1 | 1 | 0 | 1 | 1 | 0 |
| 9 | AS-7 | Casey et al 2014 | c.777del/c.12145_12146insC | p.(Asp260IlefsTer26)/p.(Phe4049SerfsTer36) | cLOF/cLOF | 5/20 | Heterozygous | M | 0-9 | Irish | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 10 | AS-8 | Jatti et al 2012 | c.10775del/c.11416C>T | p.(Thr3592LysfsTer6)/p.(Arg3806Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 40-49 | UK | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 0 |
| 11 | AS-9 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | F | 10-19 | Mennonites mexicans | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 12 | AS-9 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | F | 10-19 | Mennonites mexicans | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 13 | AS-9 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | F | 0-9 | Mennonites mexicans | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 14 | AS-10 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | F | 10-19 | Mennonites mexicans | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 15 | AS-10 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | F | 10-19 | Mennonites mexicans | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 16 | AS-10 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | M | 0-9 | Mennonites mexicans | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 17 | AS-10 | Cruz-aguilar et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | M | 0-9 | Mennonites mexicans | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 18 | AS-11 | Khoo et al 2009 | c.6305C>A/c.10483C>T | p.(Ser2102Ter)/p.(Gln3495Ter) | cLOF/cLOF | 8/16 | Heterozygous | M | 20-29 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 19 | AS-11 | Khoo et al 2009 | c.6305C>A/c.10483C>T | p.(Ser2102Ter)/p.(Gln3495Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 30-39 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 20 | AS-12 | Joy et al 2007 | c.1270G>A/c.11644C>T | p.(Val424Ile)/p.(His3882Tyr) | Ms/Ms | 6/17 | Heterozygous | F | 20-29 | English Caucasian | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 0 |
| 21 | AS-13 | Malm et al 2008 | c.11726del/ | p.(Thr3909IlefsTer18)/ | cLOF/ | 18/ | F | 10-19 | Swedish | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 1 | 0 | |
| 22 | AS-14 | Malm et al 2008 | c.11316_11319del/c.9900dup | p.(Glu3773TrpfsTer18)/p.(Ser3301LeufsTer7) | cLOF/cLOF | 16/10 | Heterozygous | F | 10-19 | Swedish | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 0 |
| 23 | AS-15 | Malm et al 2008 | c.10483C>T/ | p.(Gln3495Ter)/ | cLOF/ | 16/ | F | 10-19 | Swedish | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 24 | AS-16 | Taokesen et al 2012 | AluYa5SINE(333pbinserction)/AluYa5SINE(333pbinserction) | / | Transposon/ | 16/16 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 |
| 25 | AS-17 | Taokesen et al 2012 | AluYa5SINE(333pbinserction)/AluYa5SINE(333pbinserction) | / | Transposon/ | 16/16 | Homozygous | F | 0-9 | Turkish | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 26 | AS-18 | Liang et al 2013 | c.9449dup/c.9460del | p.(Asn3150LysfsTer2)/p.(Val3154fsTer) | cLOF/cLOF | 10/10 | Heterozygous | F | 10-19 | Chinese | 1 | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 0 |
| 27 | AS-19 | Liang et al 2013 | c.11015del/c.11107C>T | p.(Asn3672IlefsTer12)/p.(Arg3703Ter) | cLOF/cLOF | 16/16 | Heterozygous | F | 10-19 | Chinese | 1 | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 |
| 28 | AS-20 | Liang et al 2013 | c.7436C>G/c.10830dup | p.(Ser2479Ter)/p.(Arg3611GlufsTer7) | cLOF/cLOF | 8/16 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 0 | 0 | 1 | 0 | 1 | 0 | 1 |
| 29 | AS-21t | Liang et al 2013 | c.2084C>A/c.2084C>A | p.(Ser695Ter)/p.(Ser695Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Chinese | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 |
| 30 | AS-21t | Liang et al 2013 | c.2084C>A/c.2084C>A | p.(Ser695Ter)/p.(Ser695Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Chinese | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 |
| 31 | AS-22t | Liang et al 2013 | c.2061del/c.9441_9442insAATA | p.(His688IlefsTer2)/p.(Gln3147GlnfsTer2) | cLOF/cLOF | 8/10 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 |
| 32 | AS-22t | Liang et al 2013 | c.2061del/c.9441_9442insAATA | p.(His688IlefsTer2)/p.(Gln3147GlnfsTer2) | cLOF/cLOF | 8/10 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 |
| 33 | AS-23 | Liu et al 2009 | c.8224C>T/c.8224C>T | p.(Gln2742Ter)/p.(Gln2742Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 34 | AS-24 | Minton et al 2006 | c.10775del/ c.10775del | p.(Thr3592LysfsTer6)/p.(Thr3592LysfsTer6) | cLOF/cLOF | 16/16 | Homozygous | M | 0-9 | white United Kingdom | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 35 | AS-25 | Minton et al 2006 | c.5362A>G/ c.10775del | p.(Asn1788Asp)/p.(Thr3592LysfsTer6) | Ms/cLOF | 8/16 | Heterozygous | M | 0-9 | white United Kingdom | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 |
| 36 | AS-26 | Minton et al 2006 | c.6590del/c.8838C>G | p.(Lys2197SerfsTer10)/p.(Asn2946Lys) | cLOF/Ms | 8/10 | Heterozygous | F | 10-19 | white United Kingdom | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 37 | AS-27 | Minton et al 2006 | c.2224dup/c.10975C>T | p.(Thr742AsnfsTer2)/p.(Arg3659Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 10-19 | African-Caribbean/white United Kingdom | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 38 | AS-28 | Minton et al 2006 | c.11449C>T/ | p.(Gln3817Ter)/ | cLOF/ | 16/ | M | 10-19 | white United Kingdom | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | |
| 39 | AS-29 | Minton et al 2006 | c.8008C>T /c.10885C>T | p.(Arg2670Ter)/p.(Arg3629Ter) | cLOF/cLOF | 10/16 | Heterozygous | F | 10-19 | white United Kingdom | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 |
| 40 | AS-30 | Minton et al 2006 | c.10483C>T /c.10775del | p.(Gln3495Ter)/p.(Thr3592LysfsTer6) | cLOF/cLOF | 16/16 | Heterozygous | M | 30-39 | white United Kingdom | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 41 | AS-31 | Minton et al 2006 | c.10775del/c.11416C>T | p.(Thr3592LysfsTer6)/p.(Arg3806Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 30-39 | white United Kingdom | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 1 |
| 42 | AS-34 | Minton et al 2006 | c.11107C>T/ | p.(Arg3703Ter)/ | cLOF/ | 16/ | M | 10-19 | white United Kingdom | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 43 | AS-34 | Minton et al 2006 | c.10775del/c.10992G>A | p.(Thr3592LysfsTer6)/p.(Trp3664Ter) | cLOF/cLOF | 16/16 | Heterozygous | F | 20-29 | white United Kingdom | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 44 | AS-35 | Titomanlio et al 2004 | c.11460C>G/c.11460C>G | p.(Tyr3820Ter)/p.(Tyr3820Ter) | cLOF/cLOF | 16/16 | Homozygous | M | 0-9 | Danish | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 |
| 45 | AS-35 | Titomanlio et al 2004 | c.11460C>G/c.11460C>G | p.(Tyr3820Ter)/p.(Tyr3820Ter) | cLOF/cLOF | 16/16 | Homozygous | M | 0-9 | Danish | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 46 | AS-36 | Katagiri et al 2013 | c.6151C>T/c.6151C>T | p.(Gln2051Ter)/p.(Gln2051Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 20-29 | Japanase | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| 47 | AS-36 | Katagiri et al 2013 | c.6151C>T/c.6151C>T | p.(Gln2051Ter)/p.(Gln2051Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 20-29 | Japanase | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 1 |
| 48 | AS-37 | Corbetti et al 2013 | c.8935C>T/c.8935C>T | p.(Gln2979Ter)/p.(Gln2979Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 40-49 | Italian | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| 49 | AS-38 | Corbetti et al 2013 | c.3422C>G/c.3422C>G | p.(Ser1141Ter)/p.(Ser1141Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 40-49 | Italian | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| 50 | AS-39 | Corbetti et al 2013 | c.2161A>T/c.11310_11313del | p.(Lys721Ter)/p.(Asp3770GlufsTer20) | cLOF/cLOF | 8/16 | Heterozygous | M | 30-39 | Italian | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| 51 | AS-40 | Corbetti et al 2013 | c.7301_7302del/c.10972C>T | p.(Glu2434ValfsTer7)/p.(Arg3658Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 20-29 | Italian | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 |
| 52 | AS-41 | Corbetti et al 2013 | c.8779C>T/c.9898dup | p.(Arg2927Ter)/p.(His3300ProfsTer6) | cLOF/cLOF | 10/12 | Heterozygous | M | 20-29 | Italian | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 |
| 53 | AS-42 | Corbetti et al 2013 | c.11310_11313del/ | p.(Asp3770GlufsTer20)/ | cLOF/ | 16/ | F | 20-29 | Italian | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 | |
| 54 | AS-43 | Corbetti et al 2013 | c.1766T>A/c.3422C>G | p.(Leu589Ter)/p.(Ser1141Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 10-19 | Italian | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 1 |
| 55 | AS-44 | Corbetti et al 2013 | c.1766T>A/c.3422C>G | p.(Leu589Ter)/p.(Ser1141Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 10-19 | Italian | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 1 |
| 56 | AS-45 | Kuburovića et al 2013 | c.10568_10569del/ | p.(His3523GlnfsTer17)/ | cLOF/ | 16/ | Heterozygous | M | 10-19 | Serbian | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 1 |
| 57 | AS-46 | Kuburovića et al 2013 | c.3163dup/c.4156dup | p.(Glu1055GlyfsTer4)/p.(Thr1386AsnfsTer15) | cLOF/cLOF | 8/8 | Heterozygous | M | 10-19 | Serbian | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 |
| 58 | AS-47 | Ozantürk et al 2015 | c.3054G>A/ | p.(Trp1018Ter)/ | cLOF/ | 8/ | F | 20-29 | Turkish | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 59 | AS-48 | Ozantürk et al 2015 | c.3340del/c.3340del | p.(Glu1114ArgfsTer9)/p.(Glu1114ArgfsTer9) | cLOF/cLOF | 8/8 | Homozygous | M | Turkish | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | |
| 60 | AS-49 | Ozantürk et al 2015 | c.4156dup/c.10825C>T | p.(Thr1386AsnfsTer15)/p.(Arg3609Ter) | cLOF/cLOF | 8/16 | Heterozygous | M | 20-29 | Turkish | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 1 | 1 |
| 61 | AS-50 | Ozantürk et al 2015 | c.4156dup/c.4156dup | p.(Thr1386AsnfsTer15)/p.(Thr1386AsnfsTer15) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 |
| 62 | AS-51 | Ozantürk et al 2015 | c.5311C>T /c.5311C>T | p.(Gln1771Ter)/p.(Gln1771Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 20-29 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 1 |
| 63 | AS-52 | Ozantürk et al 2015 | c.5311C>T /c.5311C>T | p.(Gln1771Ter)/p.(Gln1771Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Turkish | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 |
| 64 | AS-52 | Ozantürk et al 2015 | c.5311C>T /c.10568_10569del | p.(Gln1771Ter)/p.(His3523GlnfsTer17) | cLOF/cLOF | 8/16 | Heterozygous | F | 10-19 | Turkish | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 1 | 1 |
| 65 | AS-52 | Ozantürk et al 2015 | c.5311C>T /c.10568_10569del | p.(Gln1771Ter)/p.(His3523GlnfsTer17) | cLOF/cLOF | 8/16 | Heterozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 1 |
| 66 | AS-52 | Ozantürk et al 2015 | c.5311C>T /c.10568_10569del | p.(Gln1771Ter)/p.(His3523GlnfsTer17) | cLOF/cLOF | 8/16 | Heterozygous | M | 0-9 | Turkish | 1 | 1 | 0 | 0 | 1 | 0 | 1 | 1 | 0 |
| 67 | AS-53 | Ozantürk et al 2015 | c.5586T>G /c.2908dup | p.(Tyr1862Ter)/p.(Leu970PhefsTer5) | cLOF/cLOF | 8/8 | Heterozygous | F | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 |
| 68 | AS-54 | Ozantürk et al 2015 | c.5969C>G /c.5969C>G | p.(Ser1990Ter)/p.(Ser1990Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 1 |
| 69 | AS-55 | Ozantürk et al 2015 | c.5969C>G /c.2291C>T | p.(Ser1990Ter)/p.(Ser764Phe) | cLOF/Ms | 8/8 | Heterozygous | F | 0-9 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 |
| 70 | AS-56 | Ozantürk et al 2015 | c.11870-3T>G/c.5969C>G | /p.(Ser1990Ter) het | intronic/cLOF | intron 18/8 | Heterozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| 71 | AS-57 | Ozantürk et al 2015 | c.6173_6177del/c.6173_6177del | p.(Leu2058SerfsTer7)/p.(Leu2058SerfsTer7) | cLOF/cLOF | 8/8 | Homozygous | M | 30-39 | Turkish | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 |
| 72 | AS-58 | Ozantürk et al 2015 | c.7716del/ | p.(Ala2573LeufsTer19)/ | cLOF/ | 10/ | M | 10-19 | Turkish | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
| 73 | AS-58 | Ozantürk et al 2015 | c.7716del/ | p.(Ala2573LeufsTer19)/ | cLOF/ | 10/ | F | 10-19 | Turkish | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | |
| 74 | AS-59 | Ozantürk et al 2015 | c.7531del/ | p.(Val2511TyrfsTer8)/ | cLOF/ | 8/ | F | 0-9 | Turkish | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | |
| 75 | AS-59 | Ozantürk et al 2015 | c.7531del/ | p.(Val2511TyrfsTer8)/ | cLOF/ | 8/ | F | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | |
| 76 | AS-60 | Ozantürk et al 2015 | c.8506G>T/c.8506G>T | p.(Glu2836Ter)/p.(Glu2836Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 1 |
| 77 | AS-60 | Ozantürk et al 2015 | c.8506G>T/c.8506G>T | p.(Glu2836Ter)/p.(Glu2836Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 0-9 | Turkish | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| 78 | AS-61 | Ozantürk et al 2015 | c.8506G>T/c.8506G>T | p.(Glu2836Ter)/p.(Glu2836Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 10-19 | Turkish | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 |
| 79 | AS-62 | Ozantürk et al 2015 | c.8506G>T/c.8506G>T | p.(Glu2836Ter)/p.(Glu2836Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 |
| 80 | AS-63 | Ozantürk et al 2015 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 20-29 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 |
| 81 | AS-63 | Ozantürk et al 2015 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 30-39 | Turkish | 1 | 1 | 0 | 1 | 1 | 1 | 1 | 1 | 0 |
| 82 | AS-63 | Ozantürk et al 2015 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 30-39 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 |
| 83 | AS-64 | Ozantürk et al 2015 | c.8477del/c.8477del | p.(Ser2826IlefsTer30)/p.(Ser2826IlefsTer30) | cLOF/cLOF | 10/10 | Homozygous | M | Turkish | 1 | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 0 | |
| 84 | AS-65 | Ozantürk et al 2015 | c.9749C>A/c.12117+20del | p.(Ser3250Ter)/ | cLOF/intronic | 11/intron 19 | Heterozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 |
| 85 | AS-66 | Ozantürk et al 2015 | c.11055ins(n)331/c.11055ins(n)331 | / | intronic/ | 16/16 | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | |
| 86 | AS-66 | Ozantürk et al 2015 | c.11055ins(n)331/c.11055ins(n)331 | / | intronic/ | 16/16 | F | 0-9 | Turkish | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | |
| 87 | AS-67 | Ozantürk et al 2015 | c.11080A>T/c.11080A>T | p.(Lys3694Ter)/p.(Lys3694Ter) | cLOF/intronic | 16/16 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 |
| 88 | AS-68 | Ozantürk et al 2015 | c.11870-3T>G /c.11870-3T>G | / | intronic/intronic | intron 18/intron 18 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 |
| 89 | AS-68 | Ozantürk et al 2015 | c.11870-3T>G /c.11870-3T>G | / | intronic/intronic | intron 18/intron 18 | Homozygous | F | 0-9 | Turkish | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 1 | 0 |
| 90 | AS-69 | Ozantürk et al 2015 | c.2317_2318del/c.2317_2318del | p.(Ile773PhefsTer13)/p.(Ile773PhefsTer13) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 1 | 0 |
| 91 | AS-70 | Kim et al 2015 | c.8782C>T/c.6416_6422del | p.(Arg2928Ter)/p.(Ser2141PhefsTer20) | cLOF/cLOF | 10/8 | Heterozygous | F | 20-29 | Korean | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 1 |
| 92 | AS-71 | Chakrouna et al 2016 | c.10388-2A>G/c.10388-2A>G | / | intronic/intronic | intron 15/intron 15 | Homozygous | M | 20-29 | Tunisian | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 93 | AS-71 | Chakrouna et al 2016 | c.10388-2A>G/c.10388-2A>G | / | intronic/intronic | intron 15/intron 15 | Homozygous | F | 10-19 | Tunisian | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 94 | AS-72 | Laxer et al 2016 | c.7316C>A/c.7316C>A | p.(Ser2439Ter)/p.(Ser2439Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 |
| 95 | AS-72 | Laxer et al 2016 | c.7316C>A/c.7316C>A | p.(Ser2439Ter)/p.(Ser2439Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Turkish | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 |
| 96 | AS-73 | Wicher et al 2017 | c.8164C>T/c.11207C>A | p.(Arg2722Ter)/p.(Ser3736Ter) | cLOF/cLOF | 10/16 | Heterozygous | M | 0-9 | Polish | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | 0 |
| 97 | AS-73 | Wicher et al 2017 | c.8164C>T/c.11207C>A | p.(Arg2722Ter)/p.(Ser3736Ter) | cLOF/cLOF | 10/16 | Heterozygous | M | 0-9 | Polish | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 1 | 0 |
| 98 | AS-74 | Yang et al 2017 | c.3902C>A/c.6436C>T | p.(Ser1301Ter)/p.(Arg2146Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 10-19 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 99 | AS-74 | Yang et al 2017 | c.3902C>A/c.6436C>T | p.(Ser1301Ter)/p.(Arg2146Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 100 | AS-75 | Chen et al 2017 | /c.10483C>T | p.(Arg578GlyfsTer17)/p.(Gln3495Ter) | cLOF/cLOF | 8/16 | Heterozygous | M | 30-39 | White British | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 |
| 101 | AS-76 | Chen et al 2017 | c.8838C>A, c.8838C>G/ | p.(Asn2946Lys) (1.0%)/p.(Lys2196SerfsTer10) | Ms/cLOF | 10/8 | Heterozygous | F | 20-29 | White British | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 |
| 102 | AS-77 | Chen et al 2017 | /c.11416C>T | p.(Thr3591LysfsTer6)/p.(Arg3806Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 40-49 | White British | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 |
| 103 | AS-78 | Chen et al 2017 | c.8008C>T/c.10885C>T | p.(Arg2670Ter)/p.(Arg3629Ter) | cLOF/cLOF | 10/16 | Heterozygous | F | 20-29 | White British | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 |
| 104 | AS-79 | Chen et al 2017 | c.10483C>T/ | p.(Gln3495Ter)/p.(Thr3591LysfsTer6) | cLOF/cLOF | 16/16 | Heterozygous | M | 40-49 | White British | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 |
| 105 | AS-80 | Chen et al 2017 | c.11644C>T/c.1270G>A | p.(His3881Tyr) (0.1%)/p.(Val424Ile) (0.3%) | Ms/Ms | 17/5 | Heterozygous | F | 30-39 | White British | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 |
| 106 | AS-81 | Chen et al 2017 | / | p.(Ser3960PhefsTer12)/ | cLOF/ | 19/ | M | 50-59 | White British | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | |
| 107 | AS-82 | Chen et al 2017 | c.9001C>T/ | p.(Gln3001Ter)/ | cLOF/ | 10/ | M | 40-49 | White British | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | |
| 108 | AS-83 | Chen et al 2017 | c.11449C>T/ | p.(Gln3817Ter)/p.(Val2300TrpfsTer43) | cLOF/cLOF | 16/8 | Heterozygous | M | 20-29 | White British | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 109 | AS-84 | Chen et al 2017 | c.1874A>G/ | p.(His624Arg) (1.9%)/ | Ms/ | 8/ | M | 40-49 | White British | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 110 | AS-85 | Chen et al 2017 | / | p.(Thr3591LysfsTer6)/p.(Asn1787Asp) (1.4%) | cLOF/Ms | 16/8 | Homozygous | M | 10-19 | White British | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 111 | AS-86 | Chen et al 2017 | c.4148C>A, c.4148C>G/c.9001C>T | p.(Ser1382Ter)/p.(Gln3001Ter) | cLOF/cLOF | 8/10 | Heterozygous | F | 0-9 | White British | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 112 | AS-87 | Chen et al 2017 | / | p.(Thr3591IlefsTer5)/p.(Thr3591IlefsTer5) | cLOF/cLOF | 16/16 | M | 10-19 | White British | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 113 | AS-88 | Chen et al 2017 | c.4937C>A,c.4937C>G/c.4937C>A,c.4937C>G | p.(Ser1646Ter)/p.(Ser1646Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 0-9 | South Asian UK | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 114 | AS-88 | Chen et al 2017 | c.4937C>A,c.4937C>G/c.4937C>A,c.4937C>G | p.(Ser1646Ter)/p.(Ser1646Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | South Asian UK | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 115 | AS-89 | Chen et al 2017 | c.8938C>T/ | p.(Gln2980Ter)/p.(Asn1787Asp) (1.4%) | cLOF/Ms | 10/8 | M | 10-19 | White British | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 116 | AS-90 | Chen et al 2017 | c.2822T>A/ | p.(Leu940Ter)/p.(Thr2457ThrfsTer18) | cLOF/cLOF | 8/8 | M | 10-19 | White Irish | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 117 | AS-91 | Chen et al 2017 | / | p.(Thr3591fsTer6)/p.(Ser1948fs) | cLOF/ | 16/8 | F | 0-9 | White British | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 118 | AS-92 | Chen et al 2017 | / | p.(Thr3591fsTer6)/p.(Ser1948fs) | cLOF/ | 16/8 | F | 0-9 | White British | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 119 | AS-93 | Chen et al 2017 | /c.10483C>T | p.(Thr3591Lys fsTer6)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Heterozygous | F | 0-9 | White British | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 120 | AS-94 | Chen et al 2017 | c.801G>A, c.800G>A/c.11107C>T | p.(Trp267Ter)/p.(Arg3703Ter) | cLOF/cLOF | 5/16 | Heterozygous | F | 0-9 | White British | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 121 | AS-95 | Chen et al 2017 | c.8782C>T/c.8782C>T | p.(Arg2928Ter)/p.(Arg2928Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 10-19 | South Asian UK | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 122 | AS-96 | Chen et al 2017 | c.4937C>A,c.4937C>G/c.4937C>A,c.4937C>G | p.(Ser1646Ter)/p.(Ser1646Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | South Asian UK | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 123 | AS-97 | Aastuti et al, 2016 | c.4025_4026del/c.6325G>T | p.(Gly1342GlufsTer18)/p.(Glu2109Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | ||
| 124 | AS-98 | Aastuti et al, 2016 | c.4053_4054del/c.4321C>T | p.(His1351GlnfsTer5)/p.(Gln1441Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | ||
| 125 | AS-99 | Aastuti et al, 2016 | c.4225G>A d*/c.5081del | p.(Val1409Ile)/p.(Pro1694LeufsTer39) | Ms/cLOF | 8/8 | Heterozygous | M | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | ||
| 126 | AS-99 | Aastuti et al, 2016 | c.4225G>A d*/c.5081del | p.(Val1409Ile)/p.(Pro1694LeufsTer39) | Ms/cLOF | 8/8 | Heterozygous | M | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | ||
| 127 | AS-100 | Aastuti et al, 2016 | c.9258dup/c.5145T>G | p.(Asp3087Ter)/p.(Tyr1715Ter) | cLOF/cLOF | 10/8 | Heterozygous | M | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | ||
| 128 | AS-101 | Aastuti et al, 2016 | c.11738dup/c.11738dup | p.(Ser3914LysfsTer6)/p.(Ser3914LysfsTer6) | cLOF/cLOF | 18/18 | Homozygous | F | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | ||
| 129 | AS-102 | Aastuti et al, 2016 | c.11881dup/ | p.(Ser3961PhefsTer12)/ | cLOF/ | 19/ | M | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | |||
| 130 | AS-103 | Aastuti et al, 2016 | c.11881dup/ | p.(Ser3961PhefsTer12)/ | cLOF/ | 19/ | M | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | |||
| 131 | AS-104 | Aastuti et al, 2016 | c.1011_1012del/c.6590del | p.(Cys337Ter)/p.(Lys2197SerfsTer10) | cLOF/cLOF | 5/8 | Heterozygous | M | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | ||
| 132 | AS-105 | Aastuti et al, 2016 | c.800G>A/c.11107C>T | p.(Trp267Ter)/p.(Arg3703Ter) | cLOF/cLOF | 5/16 | Heterozygous | F | 1 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | ||
| 133 | AS-106 | Aastuti et al, 2016 | c.2224dup/c.10975C>T | p.(Thr742AsnfsTer2)/p.(Arg3659Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | ||
| 134 | AS-107 | Aastuti et al, 2016 | c.4147_4150del/c.4147_4150del | p.(Ser1383AsnfsTer19)/p.(Ser1383AsnfsTer19) | cLOF/cLOF | 8/8 | Homozygous | F | 1 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | ||
| 135 | AS-108 | Aastuti et al, 2016 | c.3392C>G d*/c.(7677+1_7678‐1)_(10387+1_10388‐1)del | p.(Ala1131Gly)/p.(Gly2560SerfsTer46) | Ms/cLOF | 8/8/intron 9 | Heterozygous | F | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | ||
| 136 | AS-109 | Aastuti et al, 2016 | c.6532C>T/c.11107C>T | p.(Gln2178Ter)/p.(Arg3703Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | ||
| 137 | AS-110 | Aastuti et al, 2016 | c.6829C>T/c.9541C>T | p.(Arg2277Ter)/p.(Arg3181Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | ||
| 138 | AS-111 | Aastuti et al, 2016 | c.6829C>T/c.9541C>T | p.(Arg2277Ter)/p.(Arg3181Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | ||
| 139 | AS-112 | Aastuti et al, 2016 | c.6901del/c.11449C>T | p.(Val2301TrpfsTer43)/p.(Gln3817Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 1 | ||
| 140 | AS-113 | Aastuti et al, 2016 | c.4156dup/c.11207C>A | p.(Thr1386AsnfsTer15)/p.(Ser3736Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | ||
| 141 | AS-114 | Aastuti et al, 2016 | c.8456_8817del/c.8456_8817del | p.(Thr2819ArgfsTer29)/p.(Thr2819ArgfsTer29) | cLOF/cLOF | 10/10 | Homozygous | F | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 142 | AS-115 | Long et al, 2015 | c.4156dup/c.6436C>T | p.(Thr1386AsnfsTer15)/p.(Arg2146Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 143 | AS-116 | Zmyslowska et al, 2016 | c.11316_11319del/c.11316_11319del | p.(Glu3773TrpfsTer18)/p.(Glu3773TrpfsTer18) | cLOF/cLOF | 16/16 | Homozygous | M | 10-19 | 1 | 1 | 0 | 0 | 1 | 1 | 1 | 0 | 0 | |
| 144 | AS-117 | Zmyslowska et al, 2016 | c.8164C>T/c.11207C>A | p.(Arg2722Ter)/p.(Ser3736Ter) | cLOF/cLOF | 10/16 | Heterozygous | M | 10-19 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 1 | 0 | |
| 145 | AS-117 | Zmyslowska et al, 2016 | c.8164C>T/c.11207C>A | p.(Arg2722Ter)/p.(Ser3736Ter) | cLOF/cLOF | 10/16 | Heterozygous | M | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | |
| 146 | AS-118 | Zmyslowska et al, 2016 | c.5926del/c.11207C>A | p.(Glu1976SerfsTer8)/p.(Ser3736Ter) | cLOF/cLOF | 8/16 | Heterozygous | M | 10-19 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | |
| 147 | AS-118 | Zmyslowska et al, 2016 | c.5926del/c.11207C>A | p.(Glu1976SerfsTer8)/p.(Ser3736Ter) | cLOF/cLOF | 8/16 | Heterozygous | M | 10-19 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | |
| 148 | AS-119 | Zmyslowska et al, 2016 | c.1903C>T/c.11879_11880del | p.(Gln635Ter)/p.(Ser3961LeufsTer11) | cLOF/cLOF | 8/19 | Heterozygous | F | 10-19 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 149 | AS-119 | Zmyslowska et al, 2016 | c.1903C>T/c.11879_11880del | p.(Gln635Ter)/p.(Ser3961LeufsTer11) | cLOF/cLOF | 8/19 | Heterozygous | F | 0-9 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 150 | AS-120 | Zmyslowska et al, 2016 | c.11879_11880del/c.11879_11880del | p.(Ser3961LeufsTer11)/p.(Ser3961LeufsTer11) | cLOF/cLOF | 19/19 | Homozygous | F | 10-19 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | |
| 151 | AS-120 | Zmyslowska et al, 2016 | c.11879_11880del/c.11879_11880del | p.(Ser3961LeufsTer11)/p.(Ser3961LeufsTer11) | cLOF/cLOF | 19/19 | Homozygous | M | 20-29 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | |
| 152 | AS-121 | Zmyslowska et al, 2016 | c.11879_11880del/c.11879_11880del | p.(Ser3961LeufsTer11)/p.(Ser3961LeufsTer11) | cLOF/cLOF | 19/19 | Homozygous | M | 10-19 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | |
| 153 | AS-122 | Zmyslowska et al, 2016 | c.11107C>T/c.11316_11319del | p.(Arg3703Ter)/p.(Glu3773TrpfsTer18) | cLOF/cLOF | 16/16 | Heterozygous | F | 0-9 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 154 | AS-123 | Zmyslowska et al, 2016 | c.4156dup/c.7373_7377del | p.(Thr1386AsnfsTer15)/p.(Thr2458LysfsTer11) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 155 | AS-124 | Brofferio et al 2017/Waldman et al 2018 | c.11316_11319del/c.11416C>T | p.(Glu3773TrpfsTer18)/p.(Arg3806Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 0-9 | White | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 156 | AS-124 | Brofferio et al 2017/Waldman et al 2018 | c.11316_11319del/c.11416C>T | p.(Glu3773TrpfsTer18)/p.(Arg3806Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 0-9 | White | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 157 | AS-124 | Brofferio et al 2017/Waldman et al 2018 | c.11316_11319del/c.11416C>T | p.(Glu3773TrpfsTer18)/p.(Arg3806Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 0-9 | White | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 158 | AS-125 | Brofferio et al 2017/Waldman et al 2018 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | F | 0-9 | White | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 159 | AS-126 | Brofferio et al 2017/Waldman et al 2018 | c.10535G>A/c.11291C>A | p.(Trp3512Ter)/p.(Ser3764Ter) | cLOF/cLOF | 16/16 | Heterozygous | F | 0-9 | White | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 160 | AS-127 | Brofferio et al 2017/Waldman et al 2018 | c.11316_11319del/c.7771_7772insT | p.(Glu3773TrpfsTer18)/p.(Thr2592AsnfsTer3) | cLOF/cLOF | 16/10 | Heterozygous | F | 0-9 | White | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 161 | AS-128 | Brofferio et al 2017/Waldman et al 2018 | c.4156dup/ | p.(Thr1386AsnfsTer15)/ | cLOF/ | 8/ | F | 0-9 | White | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 162 | AS-129 | Brofferio et al 2017/Waldman et al 2018 | c.10775del/c.2234C>G | p.(Thr3592LysfsTer6)/p.(Ser745Ter) | cLOF/cLOF | 16/8 | Heterozygous | M | 0-9 | White | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 163 | AS-130 | Brofferio et al 2017/Waldman et al 2018 | c.10265del/c.2930_2933dup | p.(Pro3422GlnfsTer3)/p.(Ser979ArgfsTer13) | cLOF/cLOF | 15/8 | Heterozygous | M | 0-9 | White | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 164 | AS-130 | Brofferio et al 2017/Waldman et al 2018 | c.10265del/c.2930_2933dup | p.(Pro3422GlnfsTer3)/p.(Ser979ArgfsTer13) | cLOF/cLOF | 15/8 | Heterozygous | M | 10-19 | White | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 165 | AS-131 | Brofferio et al 2017/Waldman et al 2018 | c.10775del/c.10775del | p.(Thr3592LysfsTer6)/p.(Thr3592LysfsTer6) | cLOF/cLOF | 16/16 | Homozygous | F | 0-9 | White | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 166 | AS-132 | Brofferio et al 2017/Waldman et al 2018 | c.4156dup/c.4156dup | p.(Thr1386AsnfsTer15)/p.(Thr1386AsnfsTer15) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | White | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 |
| 167 | AS-133 | Brofferio et al 2017/Waldman et al 2018 | c.5145T>G/c.3754C>T | p.(Tyr1715Ter)/p.(Gln1252Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 10-19 | White | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 | 0 |
| 168 | AS-134 | Brofferio et al 2017/Waldman et al 2018 | c.8352_8355del/c.6436C>T | p.(Glu2785Ter)/p.(Arg2146Ter) | cLOF/cLOF | 10/8 | Heterozygous | M | 10-19 | White | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 169 | AS-135 | Brofferio et al 2017/Waldman et al 2018 | c.9328C>T/c.10549C>T | p.(Gln3110Ter)/p.(Gln3517Ter) | cLOF/cLOF | 10/16 | Heterozygous | F | 10-19 | AA | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 170 | AS-136 | Brofferio et al 2017/Waldman et al 2018 | c.10539_10557ins(n)19/c.10539_10557ins(n)19 | p.(Lys3545AsnfsTer18)/p.(Lys3545AsnfsTer18) | cLOF/cLOF | 16/16 | Homozygous | F | 10-19 | White | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 171 | AS-137 | Brofferio et al 2017/Waldman et al 2018 | c.6436C>T/c.6436C>T | p.(Arg2146Ter)/p.(Arg2146Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | As | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 172 | AS-138 | Brofferio et al 2017/Waldman et al 2018 | c.4885C>T/c.5923C>T | p.(Gln1629Ter)/p.(Gln1975Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 10-19 | AA | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 173 | AS-138 | Brofferio et al 2017/Waldman et al 2018 | c.4885C>T/c.5923C>T | p.(Gln1629Ter)/p.(Gln1975Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 10-19 | AA | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 |
| 174 | AS-139 | Brofferio et al 2017/Waldman et al 2018 | c.592C>T/c.1610_1611del | p.(Gln198Ter)/p.(Leu538Glnfs22) | cLOF/ | 8/8 | Heterozygous | M | 10-19 | White | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 175 | AS-139 | Brofferio et al 2017/Waldman et al 2018 | c.592C>T/c.1610_1611del | p.(Gln198Ter)/p.(Leu538Glnfs22) | cLOF/ | 8/8 | Heterozygous | M | 10-19 | White | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 176 | AS-140 | Brofferio et al 2017/Waldman et al 2018 | c.11651_11652insGTTA/c.9900dup | p.(Asn3885LeufsTer9)/p.(Ser3301LeufsTer7) | cLOF/cLOF | 17/13 | Heterozygous | F | 10-19 | White | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 |
| 177 | AS-141 | Brofferio et al 2017/Waldman et al 2018 | c.10539_10557ins(n)19/c.11416C>T | p.(His3512fs)/p.(Arg3806Ter) | Ms/cLOF | 16/16 | Heterozygous | F | 10-19 | White | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 178 | AS-142 | Brofferio et al 2017/Waldman et al 2018 | c.6305C>A/c.10775del | p.(Ser2102Ter)/p.(Thr3592LysfsTer6) | cLOF/cLOF | 8/16 | Heterozygous | F | 10-19 | White | 0 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 179 | AS-143 | Brofferio et al 2017/Waldman et al 2018 | c.10849G>T/c.10483C>T | p.(Glu3617Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Heterozygous | M | 10-19 | White | 1 | 0 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 180 | AS-144 | Brofferio et al 2017/Waldman et al 2018 | c.10775del/c.3716_3719del | p.(Thr3592LysfsTer6)/p.(Ser1240ThrfsTer23) | cLOF/cLOF | 16/8 | Heterozygous | M | 10-19 | White | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 181 | AS-145 | Brofferio et al 2017/Waldman et al 2018 | c.4180C>T/c.4180C>T | p.(Gln1394Ter)/p.(Gln1394Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | White | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 182 | AS-146 | Brofferio et al 2017/Waldman et al 2018 | c.11314dupA/c.10885C>T | p.(Arg3772TrpfsTer10)/p.(Arg3629Ter) | cLOF/cLOF | 16/16 | Heterozygous | F | 20-29 | White | 0 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 183 | AS-147 | Brofferio et al 2017/Waldman et al 2018 | c.5311C>T/c.5311C>T | p.(Gln1771Ter)/p.(Gln1771Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 20-29 | White | 0 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 184 | AS-148 | Brofferio et al 2017/Waldman et al 2018 | c.11651_11652insGTTA/c.4817del | p.(Asn3885LeufsTer9)/p.(Lys1608ArgfsTer9) | cLOF/cLOF | 17/8 | Heterozygous | F | 20-29 | White | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 185 | AS-149 | Brofferio et al 2017/Waldman et al 2018 | c.11313_11316del/c.2329C>T | p.(Asp3771GlufsTer20)/p.(Gln777Ter) | cLOF/cLOF | 16/8 | Heterozygous | F | 20-29 | White | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 186 | AS-150 | Brofferio et al 2017/Waldman et al 2018 | c.8394_8395insA/c.9194T>G | p.(Leu2799IlefsTer4)/p.(Leu3065Ter) | cLOF/cLOF | 10/10 | Heterozygous | F | 20-29 | White | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 187 | AS-151 | Brofferio et al 2017/Waldman et al 2018 | c.1903C>T/c.3579C>G | p.(Gln635Ter)/p.(Tyr1193Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 30-39 | White | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 188 | AS-152 | Brofferio et al 2017/Waldman et al 2018 | c.10849G>T/c.3019dup | p.(Glu3617Ter)/p.(Arg1007LysfsTer15) | cLOF/cLOF | 16/8 | Heterozygous | M | 30-39 | White | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 189 | AS-153 | Brofferio et al 2017/Waldman et al 2018 | c.5283del/c.10483C>T | p.(His1762IlefsTer18)/p.(Gln3495Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 30-39 | White | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 |
| 190 | AS-153 | Brofferio et al 2017/Waldman et al 2018 | c.5283del/c.10483C>T | p.(His1762IlefsTer18)/p.(Gln3495Ter) | cLOF/cLOF | 8/16 | Heterozygous | M | 30-39 | White | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 |
| 191 | AS-154 | Brofferio et al 2017/Waldman et al 2018 | c.4039C>T/c.5145T>G | p.(Gln1347Ter)/p.(Tyr1715Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 30-39 | White | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 192 | AS-155 | Brofferio et al 2017/Waldman et al 2018 | c.7374_7375del/c.7374_7375del | p.(Asp2459Ter)/p.(Asp2459Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 30-39 | White | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 193 | AS-156 | Tsai et al 2018 | c.10290_10291del/c.10823_10824del | p.(Lys3431SerfsTer10)/p.(Arg3609AlafsTer6) | cLOF/cLOF | 15/16 | Heterozygous | M | 10-19 | Taiwanese | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 0 | 0 |
| 194 | AS-157 | Rethanavelu et al 2019 | c.2041C>T/c.2090C>A | p.(Arg681Ter)/p.(Ser697Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 195 | AS-158 | Rethanavelu et al 2019 | c.6169_6170dup/c.9541C>T | p.(Leu2058PhefsTer17)/p.(Arg3181Ter) | cLOF/cLOF | 8/10 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 196 | AS-159 | Rethanavelu et al 2019 | c.2041C>T/c.8653C>T | p.(Arg681Ter)/p.(Gln2885Ter) | cLOF/cLOF | 8/10 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 197 | AS-160 | Rethanavelu et al 2019 | c.3472C>T/c.2000_2001dup | p.(Gln1158Ter)/p.(Thr668LeufsTer7) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 198 | AS-161 | Rethanavelu et al 2019 | c.3902C>A/c.11852dup | p.(Ser1301Ter)/p.(Asn3952GlufsTer7) | cLOF/cLOF | 8/18 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 199 | AS-162 | Rethanavelu et al 2019 | c.5701_5704del/c.5418del | p.(Glu1901ArgfsTer18)/p.(Tyr1807ThrfsTer23) | cLOF/cLOF | 8/8 | Heterozygous | M | 10-19 | Chinese | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 |
| 200 | AS-163 | Rethanavelu et al 2019 | c.10831_10832del/c.10800_10803del | p.(Arg3611AlafsTer6)/p.(Glu3601CysfsTer60) | cLOF/cLOF | 16/16 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 201 | AS-164 | Rethanavelu et al 2019 | c.7499dupT/c.2438C>G | p.(Leu2501ThrfsTer25)/p.(Ser813Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 202 | AS-165 | Rethanavelu et al 2019 | c.2090C>A/c.2090C>A | p.(Ser697Ter)/p.(Ser697Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Chinese | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 203 | AS-166 | Rethanavelu et al 2019 | c.9154_9155del/c.12034del | p.(Cys3053SerfsTer9)/p.(Leu4012TrpfsTer19) | cLOF/cLOF | 10/19 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 |
| 204 | AS-167 | Rethanavelu et al 2019 | c.6784G>T/c.7640_7641del | p.(Glu2262Ter)/p.(Glu2547ValfsTer9) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 205 | AS-168 | Rethanavelu et al 2019 | c.3226_3232del/c.7670T>A | p.(Lys1076GlnfsTer10)/p.(Leu2557Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 206 | AS-169 | Rethanavelu et al 2019 | c.10975C>T/c.10825C>T | p.(Arg3659Ter)/p.(Arg3609Ter) | cLOF/cLOF | 16/16 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 0 |
| 207 | AS-170 | Rethanavelu et al 2019 | c.4414_4415del/ | p.(Val1472AsnfsTer26)/ | cLOF/ | 8/ | F | 10-19 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 208 | AS-171 | Rethanavelu et al 2019 | c.10825C>T/c.3733A>T | p.(Arg3609Ter)/p.(Lys1245Ter) | cLOF/cLOF | 16/8 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 209 | AS-172 | Rethanavelu et al 2019 | c.5311C>T/c.2281C>T | p.(Gln1771Ter)/p.(Gln761Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 210 | AS-173 | Rethanavelu et al 2019 | c.10549C>T/c.2090C>A | p.(Gln3517Ter)/p.(Ser697Ter) | cLOF/cLOF | 16/8 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 |
| 211 | AS-173 | Rethanavelu et al 2019 | c.10549C>T/c.2090C>A | p.(Gln3517Ter)/p.(Ser697Ter) | cLOF/cLOF | 16/8 | Heterozygous | F | 0-9 | Chinese | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 212 | AS-174 | Rethanavelu et al 2019 | c.10549C>T/c.6829C>T | p.(Gln3517Ter)/p.(Arg2277Ter) | cLOF/cLOF | 16/8 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 |
| 213 | AS-175 | Rethanavelu et al 2019 | c.4917_4920del/c.11116_11134del | p.(Asn1639LysfsTer4)/p.(Arg3706LeufsTer11) | cLOF/cLOF | 8/16 | Heterozygous | F | 10-19 | Chinese | 1 | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 1 |
| 214 | AS-176 | Rethanavelu et al 2019 | c.5055dupA/c.8047G>T | p.(Pro1686ThrfsTer2)/p.(Glu2683Ter) | cLOF/cLOF | 8/10 | Heterozygous | M | 20-29 | Chinese | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 |
| 215 | AS-177 | Torkamandia et al 2019 | c.7262G>T H/c.7304_7305del | p.(Ser2421Ile)/p.(Glu2435ValfsTer7) | Ms/cLOF | 8/8 | Heterozygous | F | 10-19 | Iranian | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 216 | AS-178 | Shurygina et al 2019 | c.9900dup/c.10775del | p.(Ser3301LeufsTer7)/p.(Thr3592LysfsTer6) | cLOF/cLOF | 12/16 | Heterozygous | M | 20-29 | White North American | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 217 | AS-178 | Shurygina et al 2019 | c.9900dup/c.10775del | p.(Ser3301LeufsTer7)/p.(Thr3592LysfsTer6) | cLOF/cLOF | 12/16 | Heterozygous | M | 20-29 | White North American | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 |
| 218 | AS-179 | Weiss et al 2019 | c.11544+3A>T/c.11544+3A>T | near splice site/near splice site | intronic/intronic | intron 16/intron 16 | Homozygous | M | 10-19 | Yemenite-Jewish | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 |
| 219 | AS-180 | Gatticchi et al 2020 | c.1196_1202del/c.11316_11319del | p.(Thr400LysfsTer11)/p.(Glu3773TrpfsTer18) | cLOF/cLOF | 5/16 | Heterozygous | F | 0-9 | Italian | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
| 220 | AS-181 | Lombardo et al 2020 | c.1196_1202del/c.1196_1202del | p.(Thr400LysfsTer11)/p.(Thr400LysfsTer11) | cLOF/cLOF | 5/5 | Homozygous | M | 50-59 | Italian | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 |
| 221 | AS-181 | Lombardo et al 2020 | c.1196_1202del/c.1196_1202del | p.(Thr400LysfsTer11)/p.(Thr400LysfsTer11) | cLOF/cLOF | 5/5 | Homozygous | M | 50-59 | Italian | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 222 | AS-182 | Mauring et al 2020 | c.286C>T/c.1211C>G | p.(Gln96Ter)/p.(Ser404Ter) | cLOF/cLOF | 1/5 | Heterozygous | F | 10-19 | French | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 223 | AS-183 | Kamal et al 2020 | c.1129A>T/c.2729C>G | p.(Thr377Ser)/p.(Ser910Ter) | Ms/Ms | 5/8 | Heterozygous | M | 0-9 | Arabic | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 |
| 224 | AS-183 | Kamal et al 2020 | c.1129A>T/c.2729C>G | p.(Thr377Ser)/p.(Ser910Ter) | Ms/Ms | 5/8 | Heterozygous | M | 0-9 | Arabic | 1 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 0 |
| 225 | AS-184 | Kamal et al 2020 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 10-19 | Arabic | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 |
| 226 | AS-185 | Kamal et al 2020 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 10-19 | Arabic | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 |
| 227 | AS-185 | Kamal et al 2020 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 10-19 | Arabic | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 |
| 228 | AS-186 | Spinelli et al 2020 | c.11717_11720del/c.6149_6154del | p.(Val3906GlyfsTer2)/p.(Ser2050Ter) | cLOF/cLOF | 18/8 | Heterozygous | F | 0-9 | Italian | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 229 | AS-187 | Zhou et al 2020 | c.2994_2995del/c.9541C>T | p.(Val999ThrfsTer8)/p.(Arg3181Ter) | cLOF/cLOF | 8/10 | Heterozygous | M | 10-19 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 230 | AS-188 | Kılınç et al 2018 | c.2265dup/c.2265dup | p.(Glu756Ter)/p.(Glu756Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 0 | 1 | |
| 231 | AS-188 | Kılınç et al 2018 | c.2265dup/c.2265dup | p.(Glu756Ter)/p.(Glu756Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 20-29 | 1 | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 1 | |
| 232 | AS-189 | Kılınç et al 2018 | c.6547C>T/c.11666-2A>G | p.(Gln2183Ter)/splice site | cLOF/intronic | 8/intron 17 | Heterozygous | F | 10-19 | 1 | 1 | 0 | 1 | 1 | 1 | 1 | 0 | 1 | |
| 233 | AS-190 | Kılınç et al 2018 | c.2041C>T/c.2041C>T | p.(Arg681Ter)/p.(Arg681Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | |
| 234 | AS-191 | Kılınç et al 2018 | c.2265dup/c.2265dup | p.(Glu756Ter)/p.(Glu756Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | 1 | 1 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | |
| 235 | AS-192 | Kılınç et al 2018 | c.5975C>G/c.5975C>G | p.(Ser1992Ter)/p.(Ser1992Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | |
| 236 | AS-193 | Hirano et al 2020 | c.2758C>T/c.8782C>T | p.(Gln920Ter)/p.(Arg2928Ter) | cLOF/cLOF | 8/10 | Heterozygous | M | 10-19 | Japanase | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 0 |
| 237 | AS-194 | Özgül et al 2007 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 30-39 | 1 | 1 | 0 | 1 | 1 | 1 | 0 | 1 | 0 | |
| 238 | AS-194 | Özgül et al 2007 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 30-39 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | |
| 239 | AS-194 | Özgül et al 2007 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | F | 20-29 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 0 | |
| 240 | AS-195 | Piñeiro-Gallego et al 2012 | c.1847C>G/c.5145T>G | p.(Ser616Ter)/p.(Tyr1715Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 30-39 | Spanish | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 241 | AS-196 | Piñeiro-Gallego et al 2012 | c.5465 C>T/ | p.(Pro1822Leu)/ | Ms/ | 8/ | M | 40-49 | Spanish | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 242 | AS-197 | Piñeiro-Gallego et al 2012 | c.10790_10791del/c.10790_10791del | p.(Val3597GlufsTer4)/p.(Val3597GlufsTer4) | cLOF/cLOF | 16/16 | Homozygous | F | 10-19 | Spanish | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 243 | AS-198 | Sanyoura et al 2013 | IVS18-3T>G/IVS18-3T>G | V3958fs3964X/V3958fs3964X | / | intron 18/intron 18 | Homozygous | M | 10-19 | Lebanese | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 0 | 1 |
| 244 | AS-199 | Das Bhowmik et al 2016 | c.2822T>A/c.2822T>A | p.(Leu941Ter)/p.(Leu941Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 245 | AS-200 | Wang et al 2016 | c.2822T>A/c.8782C>T | p.(Leu941Ter)/p.(Arg2928Ter) | cLOF/cLOF | 8/10 | Heterozygous | M | 0-9 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | |
| 246 | AS-201 | Maltese et al 2017 | c.4648dup/c.4648dup | p.(Arg1550LysfsTer10)/p.(Arg1550LysfsTer10) | cLOF/cLOF | 8/8 | Homozygous | F | 20-29 | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | |
| 247 | AS-202 | Nasser et al 2018 | c.1046G>A/c.1046G>A | p.(Trp349Ter)/p.(Trp349Ter) | cLOF/cLOF | 5/5 | Homozygous | F | 20-29 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 248 | AS-202 | Nasser et al 2018 | c.1046G>A/c.1046G>A | p.(Trp349Ter)/p.(Trp349Ter) | cLOF/cLOF | 5/5 | Homozygous | F | 20-29 | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | |
| 249 | AS-203 | Nasser et al 2018 | c.1897dup/c.6571_6574del | p.(Tyr633LeufsTer9)/p.(Ser2191MetfsTer15) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | 1 | 1 | 1 | 0 | 1 | 1 | 0 | 1 | 0 | |
| 250 | AS-204 | Nasser et al 2018 | c.8782C>T/c.11385del | p.(Arg2928Ter)/p.(Phe3795LeufsTer38) | cLOF/cLOF | 10/16 | Heterozygous | M | 10-19 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | |
| 251 | AS-205 | Nasser et al 2018 | c.7141C>T/c.7141C>T | p.(Gln2381Ter)/p.(Gln2381Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 20-29 | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | |
| 252 | AS-206 | Nasser et al 2018 | c.2317_2318del/c.2317_2318del | p.(Ile773PhefsTer13)/p.(Ile773PhefsTer13) | cLOF/cLOF | 8/8 | Homozygous | M | 20-29 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | |
| 253 | AS-207 | Nasser et al 2018 | c.5283del/c.5283del | p.(His1762IlefsTer18)/p.(His1762IlefsTer18) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 254 | AS-208 | Bahmad et al 2014 | c.7942C>T/c.9163A>T | p.(Gln2648Ter)/p.(Lys3055Ter) | cLOF/cLOF | 10/10 | Heterozygous | M | 30-39 | Caucasian Brazilian | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 |
| 255 | AS-208 | Bahmad et al 2014 | c.7942C>T/c.9163A>T | p.(Gln2648Ter)/p.(Lys3055Ter) | cLOF/cLOF | 10/10 | Heterozygous | M | 20-29 | Caucasian Brazilian | 1 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 1 |
| 256 | AS-209 | Hollander et al 2017 | c.2822T>A/c.10843_10844del | p.(Leu941Ter)/p.(Gln3615AlafsTer2) | cLOF/cLOF | 8/16 | Heterozygous | F | 0-9 | Peruvian | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 |
| 257 | AS-209 | Hollander et al 2017 | c.2822T>A/c.10843_10844del | p.(Leu941Ter)/p.(Gln3615AlafsTer2) | cLOF/cLOF | 8/16 | Heterozygous | F | 0-9 | Peruvian | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 1 | 0 |
| 258 | AS-210 | Wang et al 2011 | c.10945G>T/c.10945G>T | p.(Glu3649Ter)/p.(Glu3649Ter) | cLOF/cLOF | 16/16 | Homozygous | F | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 259 | AS-210 | Wang et al 2011 | c.10945G>T/c.10945G>T | p.(Glu3649Ter)/p.(Glu3649Ter) | cLOF/cLOF | 16/16 | Homozygous | M | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 260 | AS-210 | Wang et al 2011 | c.10945G>T/c.10945G>T | p.(Glu3649Ter)/p.(Glu3649Ter) | cLOF/cLOF | 16/16 | Homozygous | M | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 261 | AS-210 | Wang et al 2011 | c.10945G>T/c.10945G>T | p.(Glu3649Ter)/p.(Glu3649Ter) | cLOF/cLOF | 16/16 | Homozygous | F | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 262 | AS-211 | Wang et al 2011 | c.10945G>T/c.10945G>T | p.(Glu3649Ter)/p.(Glu3649Ter) | cLOF/cLOF | 16/16 | Homozygous | M | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 263 | AS-211 | Wang et al 2011 | c.10945G>T/c.10945G>T | p.(Glu3649Ter)/p.(Glu3649Ter) | cLOF/cLOF | 16/16 | Homozygous | F | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 264 | AS-212 | Kocova et al 2011 | c.5283del/c.8039G>A | p.(His1762IlefsTer18)/p.(Trp2680Ter) | cLOF/cLOF | 8/10 | Heterozygous | F | 10-19 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | 1 | |
| 265 | AS-213 | Tasdemir et al 2013 | c. 9749C>A/c. 9749C>A | p.(Ser3250Ter)/p.(Ser3250Ter) | cLOF/cLOF | 11/11 | Homozygous | M | 10-19 | Turkey | 1 | 0 | 1 | 1 | 1 | 0 | 0 | 0 | 0 |
| 266 | AS-214 | Mahamid et al 2013 | c.8008C>T/c.8008C>T | p.(Arg2670Ter)/ p.(Arg2670Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| 267 | AS-214 | Mahamid et al 2013 | c.8008C>T/c.8008C>T | p.(Arg2670Ter)/ p.(Arg2670Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| 268 | AS-215 | Kaya et al 2014 | c.2905_2906insT/c.5586T>G | p.(Glu969ValfsTer6)/p.(Tyr1862Ter) | cLOF/cLOF | 8/8 | Heterozygous | F | 10-19 | 1 | 1 | 1 | 0 | 1 | 0 | 1 | 1 | 0 | |
| 269 | AS-216 | Sathya priya et al 2014 | c.11120C>G /c.11120C>G | p.(Ser3707Cys)/p.(Ser3707Cys) | Ms/Ms | 16/16 | Homozygous | 0-9 | India | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | |
| 270 | AS-217 | Sathya priya et al 2014 | c.10885C>T /c.10885C>T | p.(Arg3629Ter)/p.(Arg3629Ter) | cLOF/cLOF | 16/16 | Homozygous | 0-9 | India | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | |
| 271 | AS-218 | Louw et al 2014 | c.7760del/c.7760del | p.(Cys2587PhefsTer5)/p.(Cys2587PhefsTer5) | cLOF/cLOF | 8/8 | Homozygous | 0-9 | Turkey | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 272 | AS-218 | Louw et al 2014 | c.7760del/c.7760del | p.(Cys2587PhefsTer5)/p.(Cys2587PhefsTer5) | cLOF/cLOF | 8/8 | Homozygous | 0-9 | Turkey | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 273 | AS-219 | Nikopoulosa et al 2015 | hg19 chr2:g.73,772,326_73,813,435del/hg19 chr2:g.73,772,326_73,813,435del | / | / | 13-16/13-16 | Homozygous | M | 10-19 | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 | |
| 274 | AS-219 | Nikopoulosa et al 2015 | hg19 chr2:g.73,772,326_73,813,435del/hg19 chr2:g.73,772,326_73,813,435del | / | / | 13-17/13-17 | Homozygous | M | 0-9 | 1 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 1 | |
| 275 | AS-220 | Khan et al 2015 | c.7942C>T/c.7942C>T | p.(Gln2648Ter)/p.(Gln2648Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 276 | AS-221 | Khan et al 2015 | c.2737_2740del/c.2737_2740del | p.(Glu913SerfsTer20)/p.(Glu913SerfsTer20) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 277 | AS-222 | Khan et al 2015 | c.6305C>A/c.6305C>A | p.(Ser2102Ter)/p.(Ser2102Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 278 | AS-223 | Khan et al 2015 | c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T) | splice site (exon skipping)/splice site (exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 1 | 0 | 1 | 0 | 1 | 0 | 0 |
| 279 | AS-223 | Khan et al 2015 | c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T) | splice site (exon skipping)/splice site (exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | F | 0-9 | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 280 | AS-224 | Khan et al 2015 | c.8782C>T/c.8782C>T | p.(Arg2928Ter)/p.(Arg2928Ter) | cLOF/cLOF | 10/8 | Homozygous | F | 0-9 | Saudi Arabia | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 0 |
| 281 | AS-225 | Khan et al 2015 | c.6305C>A/c.6305C>A | p.(Ser2102Ter)/p.(Ser2102Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 1 | 0 |
| 282 | AS-226 | Khan et al 2015 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 283 | AS-227 | Khan et al 2015 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 284 | AS-228 | Khan et al 2015 | c.11732del/c.11732del | p.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16) | cLOF/cLOF | 18/18 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 285 | AS-228 | Khan et al 2015 | c.11732del/c.11732del | p.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16) | cLOF/cLOF | 18/18 | Homozygous | F | 0-9 | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 286 | AS-228 | Khan et al 2015 | c.11732del/c.11732del | p.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16) | cLOF/cLOF | 18/18 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 287 | AS-228 | Khan et al 2015 | c.11732del/c.11732del | p.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16) | cLOF/cLOF | 18/18 | Homozygous | F | 0-9 | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 288 | AS-229 | Khan et al 2015 | c.5423C>G/c.5423C>G | p.(Ser1808Ter)/p.(Ser1808Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 289 | AS-230 | Khan et al 2015 | c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T) | splice site (exon skipping)/splice site (exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | F | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 290 | AS-230 | Khan et al 2015 | c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T) | splice site (exon skipping)/splice site (exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 10-19 | Saudi Arabia | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 291 | AS-230 | Khan et al 2015 | c.11876-2A>T (IVS18-2A>T)/c.11876-2A>T (IVS18-2A>T) | splice site (exon skipping)/splice site (exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 10-19 | Saudi Arabia | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 |
| 292 | AS-231 | Khan et al 2015 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | M | 10-19 | Saudi Arabia | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 |
| 293 | AS-232 | Khan et al 2015 | c.11732del/c.11732del | p.(Pro3911GlnfsTer16)/p.(Pro3911GlnfsTer16) | cLOF/cLOF | 18/18 | Homozygous | M | 10-19 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 |
| 294 | AS-233 | Dotan et al 2017 | c.10483C>T/c.10483C>T | p.(Gln3495Ter)/p.(Gln3495Ter) | cLOF/cLOF | 16/16 | Homozygous | 0-9 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 295 | AS-234 | Dotan et al 2017 | c.4156dup/ | p.(Thr1386AsnfsTer15)/ | cLOF/ | 8/ | M | 0-9 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 296 | AS-235 | Dotan et al 2017 | c.2930_2933dup/c.10265del | p.(Ser979ArgfsTer13)/p.(Pro3422GlnfsTer3) | cLOF/cLOF | 8/15 | Heterozygous | 0-9 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 297 | AS-236 | Dotan et al 2017 | c.10483C>T/ | p.(Gln3495Ter)/ | cLOF/ | 16/ | 0-9 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |||
| 298 | AS-237 | Dotan et al 2017 | c.4156dup/c.4156dup | p.(Thr1386AsnfsTer15)/p.(Thr1386AsnfsTer15) | cLOF/cLOF | 8/8 | Homozygous | 0-9 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 299 | AS-238 | Dotan et al 2017 | c.5145T>G/c.3754C>T | p.(Tyr1715Ter)/p.(Gln1252Ter) | cLOF/cLOF | 8/8 | Heterozygous | 0-9 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 300 | AS-239 | Dotan et al 2017 | c.4917_4920del/c.3518C>G | p.(Asn1639LysfsTer4)/p.(Ser1173Ter) | cLOF/cLOF | 8/8 | Heterozygous | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 301 | AS-240 | Dotan et al 2017 | c.10775del/ | p.(Thr3592LysfsTer6)/ | cLOF/ | 16/ | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | |||
| 302 | AS-241 | Dotan et al 2017 | c.6436C>T/ | p.(Arg2146Ter)/ | cLOF/ | 8/ | M | 10-19 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 303 | AS-241 | Dotan et al 2017 | c.2930_2933dup/c.10265del | p.(Ser979ArgfsTer13)/p.(Pro3422GlnfsTer3) | cLOF/cLOF | 8/15 | Heterozygous | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 304 | AS-242 | Dotan et al 2017 | c.3251_3258del/c.4917_4920del | p.(Ala1084AspfsTer3)/p.(Asn1639LysfsTer4) | cLOF/cLOF | 8/8 | Heterozygous | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 305 | AS-243 | Dotan et al 2017 | c.2676del/c.2159del | p.(Gly893AspfsTer41)/p.(Arg720LysfsTer60) | cLOF/cLOF | 8/8 | Heterozygous | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 306 | AS-244 | Dotan et al 2017 | c.10539_10557ins(n)19/c.11416C>T | p.His3512fs/p.(Arg3806Ter) | /cLOF | 16/16 | Heterozygous | 10-19 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 307 | AS-245 | Dotan et al 2017 | del/c.5145T>G | Delection fo exon 17/p.(Tyr1715Ter) | /cLOF | intron 17/8 | Heterozygous | 20-29 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 308 | AS-246 | Dotan et al 2017 | c.7376_7379del/c.7376_7379del | p.(Asp2459AlafsTer18)/p.(Asp2459AlafsTer18) | cLOF/cLOF | 8/8 | Homozygous | 20-29 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 309 | AS-247 | Dotan et al 2017 | c.11651_11652insGTTA/c.4823del | p.(Asn3885LeufsTer9)/p.(Lys1608ArgfsTer9) | cLOF/cLOF | 17/8 | Heterozygous | 20-29 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 310 | AS-248 | Dotan et al 2017 | c.4213G>T/c.4213G>T | p.(Glu1405Ter)/p.(Glu1405Ter) | cLOF/cLOF | 8/8 | Homozygous | 30-39 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 311 | AS-249 | Dotan et al 2017 | c.11385del/c.3153C>A | p.(Phe3795LeufsTer38)/p.(Tyr1051Ter) | cLOF/cLOF | 16/16 | Heterozygous | 30-39 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 312 | AS-250 | Dotan et al 2017 | c.11385del/c.11385del | p.(Phe3795LeufsTer38)/p.(Phe3795LeufsTer38) | cLOF/cLOF | 16/16 | Homozygous | 30-39 | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ||
| 313 | AS-251 | Dotan et al 2017 | c.7942C>T/c.9163A>T | p.(Gln2648Ter)/p.(Lys3055Ter) | cLOF/cLOF | 10/10 | Heterozygous | 30-39 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 314 | AS-252 | Dotan et al 2017 | c.10483C>T/c.5283del | p.(Gln3495Ter)/p.(His1762IlefsTer18) | cLOF/cLOF | 16/8 | Heterozygous | 30-39 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | ||
| 315 | AS-253 | Dotan et al 2017 | c.7375_7376del/c.7375_7376del | p.(Asp2459Ter)/p.(Asp2459Ter) | cLOF/cLOF | 8/8 | Homozygous | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |||
| 316 | AS-254 | Castro-Sánchez et al 2017 | c.8008C>T/c.8008C>T | p.(Arg2670Ter)/p.(Arg2670Ter) | cLOF/cLOF | 10/10 | Homozygous | F | Iranian | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | |
| 317 | AS-255 | Jinda et al 2017 | c.3902C>A/c.8047G>T | p.(Ser1301Ter)/p.(Glu2683Ter) | cLOF/cLOF | 8/10 | Heterozygous | M | 0-9 | Thai | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 |
| 318 | AS-256 | Jinda et al 2017 | c.3902C>A/c.3902C>A | p.(Ser1301Ter)/p.(Ser1301Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Thai | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 319 | AS-257 | Wang et al 2016 | c.3902C>A/c.4912_4915del | p.(Ser1301Ter)/p.(Leu1638IlefsTer5) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 320 | AS-258 | Kvarnung et al 2018 | c.7316C>A/c.7316C>A | p.(Ser2439Ter)/p.(Ser2439Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | ||
| 321 | AS-258 | Kvarnung et al 2018 | c.7316C>A/c.7316C>A | p.(Ser2439Ter)/p.(Ser2439Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 1 | 1 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | ||
| 322 | AS-259 | Sánchez-Navarro et al 2018 | c.4252del/c.4252del | p.(Arg1418GlyfsTer55)/p.(Arg1418GlyfsTer55) | cLOF/cLOF | 8/8 | Homozygous | F | 20-29 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | |
| 323 | AS-260 | Sánchez-Navarro et al 2018 | c.4477G>T/c.7571_7572del | p.(Glu1493Ter)/p.(His2524ArgfsTer11) | cLOF/cLOF | 8/9 | Heterozygous | M | 0-9 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 324 | AS-261 | Sánchez-Navarro et al 2018 | c.808C>T/c.11618_11619del | p.(Arg270Ter)/p.(Ser3873TyrfsTer19) | cLOF/cLOF | 5/17 | Heterozygous | F | 40-49 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 325 | AS-262 | Hull et al 2020 | c.571C>A/c.571C>A | p.(Leu191Met)/p.(Leu191Met) | Ms/Ms | 3/3 | Homozygous | 10-19 | Samoan | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 326 | AS-263 | Saadah et al 2021 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 10-19 | Saudi Arabia | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 327 | AS-263 | Saadah et al 2021 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 10-19 | Saudi Arabia | 1 | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 |
| 328 | AS-263 | Saadah et al 2021 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | F | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 329 | AS-264 | Saadah et al 2021 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | F | 10-19 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 330 | AS-264 | Saadah et al 2021 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 331 | AS-264 | Saadah et al 2021 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |
| 332 | AS-265 | Srikrupa et al 2021 | c.1906G>T/c.1906G>T | p.(Glu636Ter)/p.(Glu636Ter) | intronic/cLOF | 8/8 | Homozygous | F | 10-19 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 333 | AS-266 | Srikrupa et al 2021 | c.6840del/c.6840del | p.(Pro2281LeufsTer63)/p.(Pro2281LeufsTer63) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 334 | AS-267 | Bea-Mascato et al 2021 | c.2788G>T/c.2788G>T | p.(Glu930Ter)/p.(Glu930Ter) | cLOF/cLOF | 8/8 | Homozygous | F | 10-19 | Spanish | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| 335 | AS-268 | Bea-Mascato et al 2021 | c.5425_5428del/c.5425_5428del | p.(His1809GlufsTer20)/p.(His1809GlufsTer20) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Spanish | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 336 | AS-269 | Wang et al 2021 | c.6161_6162insTA/c.10823_10824 del | p.(Lys2054AsnfsTer21)/p.(Glu3608AlafsTer9) | cLOF/cLOF | 8/16 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 |
| 337 | AS-270 | Zhang et al 2021 | c.2296_2299del/c.11460C>A | p.(Ser766LysfsTer13)/p.(Tyr3820Ter) | cLOF/cLOF | 8/16 | Heterozygous | F | 0-9 | Chinese | 1 | 1 | 1 | 1 | 1 | 1 | 0 | 1 | 1 |
| 338 | AS-271 | Aldahmesh et al 2009 | c.5423C>G/c.5423C>G | p.(Ser1808Ter)/p.(Ser1808Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 339 | AS-272 | Aldahmesh et al 2009 | c.5873_5876del/c.5873_5876del | p.(Asp1958ValfsTer8)/p.(Asp1958ValfsTer8) | cLOF/cLOF | 8/8 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 340 | AS-273 | Aldahmesh et al 2009 | c.8164C>T/c.8164C>T | p.(Arg2722Ter)/p.(Arg2722Ter) | cLOF/cLOF | 10/10 | Homozygous | 0-9 | Saudi Arabia | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 341 | AS-274 | Aldahmesh et al 2009 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | F | 10-19 | Saudi Arabia | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 342 | AS-274 | Aldahmesh et al 2009 | c.11870-2 A>T/c.11870-2 A>T | Splice site (Exon skipping)/Splice site (Exon skipping) | intronic/intronic | intron 18/intron 18 | Homozygous | M | 0-9 | Saudi Arabia | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| 343 | AS-275 | Wang et al 2016 | c.1054C>T/c.4917_4920del | p.(Arg352Ter)/p.(Asn1639LysfsTer4) | cLOF/cLOF | 5/8 | Heterozygous | M | 10-19 | Chinese | 1 | 1 | 0 | 1 | 1 | 0 | 0 | 0 | 0 |
| 344 | AS-275 | Wang et al 2016 | c.1054C>T/c.4917_4920del | p.(Arg352Ter)/p.(Asn1639LysfsTer4) | cLOF/cLOF | 5/8 | Heterozygous | F | 10-19 | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 0 |
| 345 | AS-276 | Wang et al 2016 | c.2041C>T/c.5701_5704del | p.(Arg681Ter)/p.(Glu1901ArgfsTer18) | cLOF/cLOF | 8/8 | Heterozygous | F | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 346 | AS-276 | Wang et al 2016 | c.2041C>T/c.5701_5704del | p.(Arg681Ter)/p.(Glu1901ArgfsTer18) | cLOF/cLOF | 8/8 | Heterozygous | F | 0-9 | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 347 | AS-277 | Wang et al 2016 | c.2090C>A/c.2090C>A | p.(Ser697Ter)/p.(Ser697Ter) | cLOF/cLOF | 8/8 | Homozygous | F | Chinese | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | |
| 348 | AS-278 | Wang et al 2016 | c.2090C>A/c.2090C>A | p.(Ser697Ter)/p.(Ser697Ter) | cLOF/cLOF | 8/8 | Homozygous | M | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 349 | AS-278 | Wang et al 2016 | c.2090C>A/c.2090C>A | p.(Ser697Ter)/p.(Ser697Ter) | cLOF/cLOF | 8/8 | Homozygous | M | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 350 | AS-279 | Wang et al 2016 | c.2090C>A/c.2090C>A | p.(Ser697Ter)/p.(Ser697Ter) | cLOF/cLOF | 8/8 | Homozygous | M | 10-19 | Chinese | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 0 |
| 351 | AS-280 | Wang et al 2016 | c.4891C>T/c.6169_6170dup | p.(Gln1631Ter)/p.(Leu2058PhefsTer17) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 1 | 0 | 1 | 0 | 0 | 0 | 0 |
| 352 | AS-281 | Wang et al 2016 | c.4891C>T/c.5631dup | p.(Gln1631Ter)/p.(Gly1878ArgfsTer7) | cLOF/cLOF | 8/8 | Heterozygous | F | 0-9 | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| 353 | AS-281 | Wang et al 2016 | c.4891C>T/c.5631dup | p.(Gln1631Ter)/p.(Gly1878ArgfsTer7) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| 354 | AS-282 | Wang et al 2016 | c.5631dup/c.5631dup | p.(Gly1878ArgfsTer7)/p.(Gly1878ArgfsTer7) | cLOF/cLOF | 8/8 | Homozygous | M | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | |
| 355 | AS-283 | Wang et al 2016 | c.6169_6170dup/c.10831_10832del | p.(Leu2058PhefsTer17)/p.(Arg3611AlafsTer6) | cLOF/cLOF | 8/16 | Heterozygous | M | 0-9 | Chinese | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| 356 | AS-284 | Wang et al 2016 | c.6305C>A/c.7436C>G | p.(Ser2102Ter)/p.(Ser2479Ter) | cLOF/cLOF | 8/8 | Heterozygous | M | 0-9 | Chinese | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
| 357 | AS-285 | Wang et al 2016 | c.7402G>T/c.8782C>T | p.(Glu2468Ter)/p.(Arg2928Ter) | cLOF/cLOF | 8/10 | Heterozygous | F | Chinese | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |