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. 2020 Mar;192:107950. doi: 10.1016/j.exer.2020.107950

Table 1.

All reported pathogenic variants in PRPF31 associated with adRP, from peer-reviewed publications and clinical variant database ClinVar (variants classified as pathogenic only). The location in cDNA, nature of the variant and impact on protein (if known) is included, alongside age of onset and age at diagnosis, where reported.

exon cDNA mutation protein mutation notes Original references Families (n) Splicing Frameshift Nonsense Missense Inframe deletion Inframe duplication/insertion Indel Large insertion or deletion Age of onset Age at diagnosis
exon 1 (non coding)
intron 1 c.1-2481G > T formerly: IVS1+1G > T Liu et al., 2008 (Liu et al., 2008) 1 1 3 20
exon 2 c.1-177 c.-3_7del p.Met1? Sullivan et al., 2013 (Sullivan et al., 2013); Kiser et al., 2019 (Kiser et al., 2019) 2 2 10/17/29 10/58/62
c.1A  >  T p.Met1? Carss et al., 2017 (Carss et al., 2017) 1
c.18G > C p.Glu6Asp van Huet et al., 2015 (van Huet et al., 2015) 1 1
c.19_20insA p.Leu7Hisfs*4 Sullivan et al., 2013 (Sullivan et al., 2013) 1 1
c.34G > T p.Glu12* Van Cauwenbergh et al., 2017 (Van Cauwenbergh et al., 2017) 1 1
c.55del p.Glu19Lysfs*46 Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
c.59_65del7 p.Gly20Alafs*43 Saini et al., 2012 (Saini et al., 2012) 1 1 17
c.79G > T p.Glu27X Waseem et al., 2007 (Waseem et al., 2007) 1 1 15 43
c.121C  >  G p.Leu41Val reported as cause of disease, but no functional studies Ellingford et al., 2016 (Ellingford et al., 2016a) 1 1
c.165G > A de la Cerda et al., 2019 (de la Cerda et al., 2019) 1
c.172A  >  T p.Lys58X Zhang et al., 2016 (Zhang et al., 2016) 1 13
c.196_197delAA p.Lys66Aspfs*2 Xu et al., 2012 (Xu et al., 2012) 1 1 1 24
intron 2 c.177+1G > A formerly IVS2+1 G > A Sullivan et al., 2006a (Sullivan et al., 2006a) 1 1
c.177+1delG Rivolta et al., 2006 (Rivolta et al., 2006) 1 1
exon 3 c.178–238 (20aa) c.217A  >  T p.Lys73X Eisenberger et al., 2013 (Eisenberger et al., 2013) 1 1
c.220C  >  T p.Gln74X Sullivan et al., 2006a (Sullivan et al., 2006a); Van Cauwenbergh et al., 2017 (Van Cauwenbergh et al., 2017); Kiser et al., 2019 (Kiser et al., 2019) 3 3 7 9
intron 3
exon 4239-322 c.267delA p.Glu89Aspfs*11 Sullivan et al., 2013 (Sullivan et al., 2013) 1 1
p.Leu107del4 ctGAGT Aleman et al., 2009 (Aleman et al., 2009) 1 1 32
c.319C  >  G Rivolta et al., 2006 (Rivolta et al., 2006); Rio Frio et al., 2008 (Rio Frio et al., 2008b) 2 2
intron 4 c.322 + 4_322+7del p.? 2 families in MM paper, 3 families in Zhang paper Zhang et al., 2016 (Zhang et al., 2016); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 5 5 19/27
c.322+1G > A Wu et al., 2018 (Wu et al., 2018); Kiser et al., 2019 (Kiser et al., 2019) 2 2
c.323-2A > G Rivolta et al. (2006) (Rivolta et al., 2006) 1 1
exon 5 c.323-421 c.328_330del p.Ile110del Reported as p.Ile109del in de Sousa Dias paper de Sousa Dias et al., 2013 (de Sousa Dias et al., 2013); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 2 2
c.331_342del p.His111_Ile114del 111 and 114 inc Wang et al. (2003) (Wang et al., 2003) 1 1
c.341T  >  A Ile114Asn Wheway et al. (2019) (Wheway et al., 2019) 1 1
c.357_358delAA p.Ser119Serfs*5 in 2 families and 1 sporadic case in Zheng paper Xiao et al., 2017b (Xiao et al., 2017); Zheng et al., 2018 (Zheng et al., 2018) 2 2 6/10
c.358–359 del AA p.Lys120Glufs*122 Gandra et al., 2008 (Gandra et al., 2008); Yang et al., 2015 (Yang et al., 2015) 2 2
c.359dupA Hariri et al., 2018 (Hariri et al., 2018) 1 41
c.359delA p.Lys120Argfs*78 Carss et al., 2017 (Carss et al., 2017) 1 1
c.360dupA p.K120fs*5 Glockle et al., 2014 (Glockle et al., 2014) 1 1
c.390delC p.Asn131fs*67 Sullivan et al., 2006a (Sullivan et al., 2006a); Kiser et al., 2019 (Kiser et al., 2019) 2 2 10/10/17 16/21/48
c.400delG p.Asp134Ilefs Ellingford et al., 2016 (Ellingford et al., 2016a) 1 1
c.413C  >  A Thr138Lys Waseem et al., 2007 (Waseem et al., 2007) 1 1 15,20 30
intron 5 c.421-2A > G Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.421-1G > A formerly IVS5-1G > A Xia et al., 2004 (Xia et al., 2004); Xi et al., 2005 (Xi et al., 2005) 2 2
exon 6 c.421-527 c.421G > T Glu141X Sullivan et al., 2006a (Sullivan et al., 2006a) 1 1
c.433_434del p.S145Pfs*8 Kurata et al., 2018 (Kurata et al., 2018) 1 1 7 7
c.522_527 + 10del Same family in these 2 papers Ghazawy et al., 2007 (Ghazawy et al., 2007); Buskin et al., 2018 (Buskin et al., 2018) 1 30s 33
c.525_526insAG Kiser et al., 2019 (Kiser et al., 2019) 1 1 16 47
intron 6 c.527+1G > A Described as p.IVS6+1G > T Chakarova et al., 2006 (Chakarova et al., 2006); Martin-Merida et al., 2018 (Martin-Merida et al., 2018); Abdulridha-Aboud et al., 2016 (Abdulridha-Aboud et al., 2016) 3 3 13/48/21 13/48
c.527+1G > T Gandra et al., 2008 (Gandra et al., 2008); Kiser et al., 2019 (Kiser et al., 2019) 2 2
c.527+2T  >  G Wu et al., 2018 (Wu et al., 2018) 1 1
c.527+2T  >  C Audo et al., 2010 (Audo et al., 2010) 1 1
c.527+3A  >  G In 2 families in Waseem paper. Reported as IVS 6 + 3 A  >  G in Ivings paper Vithana et al., 2001 (Vithana et al., 2001); Waseem et al., 2007 (Waseem et al., 2007); Ivings et al., 2008 (Ivings et al., 2008); Ellingford et al., 2016 (Ellingford et al., 2016a); Xie et al., 2018 (Xie et al., 2018); Kiser et al., 2019 (Kiser et al., 2019) 7 7 20/29/28/27 52/30/70
c.528–3_45del Vithana et al., 2001 (Vithana et al., 2001); Sato et al., 2005 (Sato et al., 2005) 2 2
c.528–39_531del Sullivan et al., 2013 (Sullivan et al., 2013) 1 1
c.528-1G > A Waseem et al., 2007 (Waseem et al., 2007); Van Cauwenbergh et al., 2017 (Van Cauwenbergh et al., 2017) 2 2 20
exon 7 c.528-697 c.541G > T p.Glu181X 2 families in MM paper Pomares et al., 2010 (Pomares et al., 2010); Van Cauwenbergh et al., 2017 (Van Cauwenbergh et al., 2017); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 4 4 19, 23
c.544_618del75bp E182_E206del Xu et al., 2012 (Xu et al., 2012) 1 1 24
c.547delG p.E183fs Xiao et al., 2017 (Xiao et al., 2017) 1 1 5,6,7,8,10
c.548_580dup p.Glu183_Met193dup Tiwari et al., 2016 (Tiwari et al., 2016) 1 1 24
c.550_552del p.Leu184del Kiser et al., 2019 (Kiser et al., 2019) 1 1 71 71
c.553G > T p.Glu185X de novo in Neveling paper Neveling et al., 2012 (Neveling et al., 2012); van Huet et al., 2015 (van Huet et al., 2015) 2 1
c.562G > T p.Glu188X ClinVar (likely pathogenic) 1 1
c.580_581delGC p.Leu195GlyFs ClinVar (likely pathogenic) 1 1
c.580-581dup33bp Vithana et al., 2001 (Vithana et al., 2001) 1 1
c.581C  >  A Ala194Glu Vithana et al., 2001 (Vithana et al., 2001) 1 1
c.590T  >  C Leu197Pro Bryant et al., 2019 (Bryant et al., 2019); Wu et al., 2018 (Wu et al., 2018) 2 2
c.615C  >  A p.Tyr205X ClinVar (pathogenic) 1 1
c.615C  >  G p.Tyr205X ClinVar (likely pathogenic) 1 1
c.615delC p.Y205X Xu et al., 2012 (Xu et al., 2012) 1 1 27
c.616G > T p.Glu206X Wang et al., 2014 (Wang et al., 2014) 1 1
c.629delC Huang et al., 2015 (Huang et al., 2015) 1 1
c.636delG p.Met212fs*238 Sullivan et al., 2006a (Sullivan et al., 2006a); Bowne et al., 2011 (Bowne et al., 2011); Wang et al., 2014 (Wang et al., 2014) 3 3
c.646G > C Ala216Pro Vithana et al., 2001 (Vithana et al., 2001) 1 1
c.666_668del p.Ile223del Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.673del p.Ala225Hisfs*14 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
intron 7 c.698-1G > A Roberts et al., 2016 (Roberts et al., 2016); Birtel et al., 2018 (Birtel et al., 2018a) 2 2
exon 8 c.698 - 855 c.709-734dup Terray et al., 2017 (Terray et al., 2017) 1 1
732-737delins20bp M244fsX248 Martinez-Gimeno et al., 2003 (Martinez-Gimeno et al., 2003) 1 1 6–20
c.736G > A p.Ala246Thr Xu et al., 2014 (Xu et al., 2012); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 2 2
c.741_742insA p.Asn248Lysfs ClinVar (likely pathogenic) 1 1
c.758_767del p.Gly253fs*317 Sullivan et al., 2006a (Sullivan et al., 2006a); Kiser et al., 2019 (Kiser et al., 2019) 2 2 19 31
c.763C  >  T p.Gln255X Wang et al., 2014 (Wang et al., 2014) 1 1
769-770insA K257fs*277 Vithana et al., 2001 (Vithana et al., 2001); Martinez-Gimeno et al., 2003 (Martinez-Gimeno et al., 2003) 2 2 10–18
c.770dup p.Thr258Aspfs*21 Vithana et al., 2001 (Vithana et al., 2001); Martin-Medira et al. (2018) 2 2
c.772_773del2insCAACATGCAACATCAT p.(Thr258Glnfs) Zhao et al., 2015 (Zhao et al., 2015) 1 1
c.781G > C Gly261Arg Xiao et al., 2017 (Xiao et al., 2017) 1 1
c.785delT p.Phe262Serfs*59 Lim et al., 2009 (Lim et al., 2009) 1 1 <10
c.804delG p.L268fs Xiao et al., 2017 (Xiao et al., 2017) 1 1
c.808_809insC p.His270Profs*8 Sullivan et al., 2013 (Sullivan et al., 2013) 1 1
c.815G > T p.Gly272Val predicted by Sullivan to be benign Sullivan et al., 2006a (Sullivan et al., 2006a); Daiger et al., 2014 (Daiger et al., 2014) 2 2
c.816_830delCTACATCTACCACAG p.Tyr273_Ser277del Birtel et al., 2018 (Birtel et al., 2018b) 1 1
c.824_825insA p.Y275X Yang et al., 2013 (Yang et al., 2013) 1 1 12
c.828_829del p.His276Glnfs*2 Martinez-Gimeno et al., 2003 (Martinez-Gimeno et al., 2003); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 2 2 5–20
c.838_841dupGTGC p.Gln281Argfs*44 Carss et al., 2017 (Carss et al., 2017) 1 1
c.839T  >  G p.Val280Gl Birtel et al., 2018 (Birtel et al., 2018b) 1 1
intron 8 c.855+1G > C Lu et al., 2005 (Lu et al., 2005) 1 1
c.855+1G > T Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.855+1G > A ClinVar (pathogenic) 1 1
c.856-2A > G Rivolta et al., 2006 (Rivolta et al., 2006) 1 1
exon 9 c.856 - 945 c.862C  >  T p.Arg288Trp Coussa et al., 2015 (Coussa et al., 2015) 1 1 66 68
c.866_879delGGAAAGCGGCCCGG p.R289Pfs*30 Villanueva et al., 2014 (Villanueva et al., 2014); Zhang et al., 2016 (Zhang et al., 2016) 2 2 2–16 7–63
c.871G > C Ala291Pro Sullivan et al., 2006a (Sullivan et al., 2006a) 1 1
c.877_910del p.Arg293_Arg304>Valfs*17 Rivolta et al., 2006 (Rivolta et al., 2006) 1 1
c.895T  >  C Cys299Arg Sullivan et al., 2006a (Sullivan et al., 2006a); Xu et al., 2012 (Xu et al., 2012); Martin-Merida et al., 2018 (Martin-Merida et al., 2018); Kiser et al., 2019 (Kiser et al., 2019) 4 4 21/27/41/63 27/44/63/65
c.896G > A p.Cys299Tyr Bhatia et al., 2018 (Bhatia et al., 2018) 1 1
c.910C  >  T p.Arg304Cys Huang et al., 2015 (Huang et al., 2015); Hariri et al., 2018 (Hariri et al., 2018) 2 2 45
c.914_915insTGT p.Val305_Asp306insVal Utz et al., 2013 (Utz et al., 2013) 1 1 30s 40s
c.915_916insTGT p.Val305_Asp306insCys Sullivan et al., 2013 (Sullivan et al., 2013) 1 1
c.916G > A p.Asp306Asn reported as cause of disease, but functional studies not carried out Ellingford et al., 2016 (Ellingford et al., 2016a) 1 1
p.307fs*15 Lu et al., 2013 (Lu et al., 2013) 1 1
c.939dup p.Gly314Argfs*10 Fernandez-San Jose et al., 2015 (Fernandez-San Jose et al., 2015); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 2 2
c.940delG p.Ala302Glnfs ClinVar (pathogenic/likely pathogenic) 2 2
intron 9 c.946–1 G > C Bowne et al., 2011 (Bowne et al., 2011); Daiger et al. (2014) (Daiger et al., 2014) 2 2
exon 10 c.946 - 1073 c.950delG p.Gly316Alafs*4 ClinVar (pathogenic) 1 1
c.961A  >  T p.Lys321X Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.967G > T p.Glu323X Ellingford et al., 2016 (Ellingford et al., 2016a) 1 1
c.973G > T Glu325X Sullivan et al., 2006a (Sullivan et al., 2006a) 1 1
c.978_982del p.Lys327Argfs*146 Van Cauwenbergh et al., 2017 (Van Cauwenbergh et al., 2017) 1 1
c.992G > A p.Trp331X ClinVar (pathogenic) 1 1
c.994C  >  T p.Gln332X Ellingford et al., 2016 (Ellingford et al., 2016a) 1 1
c.997del p.Glu333Serfs*5 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.1015C  >  T p.Q339X Xie et al., 2018 (Xie et al., 2018) 1 1
c.1035_1036insGC p.Pro346Argfs*18 Wu et al., 2018 (Wu et al., 2018) 1 1
c.1048C  >  T p.Gln350X Eisenberger et al., 2013 (Eisenberger et al., 2013) 1 1
c.1060C  >  T p.Arg354X Sullivan et al., 2013 (Sullivan et al., 2013); Ellingford et al., 2016 (Ellingford et al., 2016a); Xiao et al., 2017 (Xiao et al., 2017); Wu et al., 2018 (Wu et al., 2018); Kurata et al., 2018 (Kurata et al., 2018); Kiser et al., 2019 (Kiser et al., 2019), 6 6 5/6/7/8/8/6/12 6/24
intron 10 c.1067_1073+8del Eisenberger et al., 2013 (Eisenberger et al., 2013) 1 1
c.1073+1G > A Sullivan et al., 2006a (Sullivan et al., 2006a); Kiser et al., 2019 (Kiser et al., 2019) 2 2 28/40 9/12/14/40
c.1074-2 A > T p.Tyr359Sfs*29 Yang et al., 2013 (Yang et al., 2013) 1 1 2–8
c.1074–1G > T p.? Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
exon 11 c.1074–1146 (24aa) c.1077C  >  A p.Tyr359X Van Cauwenbergh et al., 2017 (Van Cauwenbergh et al., 2017) 1 1
c.1084delA p.Met362X Sullivan et al., 2013 (Sullivan et al., 2013); Kiser et al., 2019 (Kiser et al., 2019) 1 1 6 44
c.1098delG p.Leu366fs*1 Pan et al., 2014 (Pan et al., 2014) 1 1 5 22
c.1115_1125del p.Arg372Glnfs*99 Same family in Ivings and Buskin paper Vithana et al., 2001 (Vithana et al., 2001); Ivings et al., 2008 (Ivings et al., 2008); Buskin et al., 2018 (Buskin et al., 2018) 2 2 Severe at 47
c.1120C  >  T p.Gln374X Ellingford et al., 2016b (Ellingford et al., 2016b) 1 1
c.1129delC p.Arg377Valfs*2 Carss et al., 2017 (Carss et al., 2017) 1 1
c.1142delG p.Gly381fs*30 in more than 4 Japanese families in Koyanagi paper Sato et al., 2005 (Sato et al., 2005); Taira et al., 2007 (Taira et al., 2007); Koyanagi et al., 2019 (Koyanagi et al., 2019) 6 6 30–45
intron 11 c.1146+2T  >  C p.? Waseem et al., 2007 (Waseem et al., 2007); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 2 2 18, 20
c.1146+2T  >  A p.? Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
exon 12 c.1147 - 1275 c.1155-1159delGGACG/insAGGGATT p.Asp386Glyfs*28 Sato et al., 2005 (Sato et al., 2005); Sullivan et al., 2006a (Sullivan et al., 2006a) 2 1 20 45
c.1190dup p.His398Profs*77 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.1205C > A p.Ser402X McLenachan et al., 2019 (McLenachan et al., 2019) 1 1
c.1215delG p.G405fs*7 Dong et al., 2013 (Dong et al., 2013) 1 1 9 9,22,73
c.1222C  >  T p.Arg408Trp Xiao et al., 2017 (Xiao et al., 2017) 1 1
c.1224dupG p.Gln409Alafs*66 Wu et al., 2018 (Wu et al., 2018) 1 1
c.1226_1227insA p.Thr410Aspfs*65 Xie et al., 2018 (Xie et al., 2018) 1
c.1234del p.Val412X Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
c.1261_1262delTC p.S421Qfs*53 Glockle et al., 2014 (Glockle et al., 2014) 1 1
c.1273C  >  T p.Gln425X ClinVar (pathogenic) 1 1
intron 12
exon 13 c.1276-1374 c.1291C  >  T p.Gln431X ClinVar (pathogenic) 1 1
c.1305T  >  A p.Y435X Huang et al., 2015 (Huang et al., 2015) 1 1
c.1373A  >  T p.Gln458Leu Xiao et al., 2017 (Xiao et al., 2017) 1 1
intron 13 c.1374 + 654C  >  G deep intronic Rio Frio et al., 2009 (Rio Frio et al., 2009) 1 1
exon 14 c.1375–1492 (39aa) c.1462_1472del p.Lys488Argfs*75 Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
Deletion upstream Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
Deletion exons 1–14 (whole gene) Ivings et al., 2008 (Ivings et al., 2008); Bowne et al., 2011 (Bowne et al., 2011); Eisenberger et al., 2013 (Eisenberger et al., 2013); Almoguera et al., 2015 (Almoguera et al., 2015) Hariri et al., 2018 (Hariri et al., 2018); Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 6 6 18, severe at 65
30 kb deletion including putative promoter region of a novel gene OSCAR, the entire genomic content of genes NDUFA3, TFPT and most of the PRPF31 gene except for its terminal exon exon 14. Abu-Safieh et al., 2006 (Abu-Safieh et al., 2006) 1 1 6–30
112 kb deletion encompassing over 90% of PRPF31 and five upstream genes: TFPT, OSCAR, NDUFA3, TARM-1, and VSTM-1 Rose et al., 2011 (Rose et al., 2011) 1 1
58.7 kb deletion including TFPT, NDUFA3, OSCAR genes and 11 exons of the PRPF31 2 families in Sweden Kohn et al., 2009 (Kohn et al., 2009); Golovleva et al., 2010 (Golovleva et al., 2010) 2 2 50s
Deletion exon 1 Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
Deletion exons 1–3 Birtel et al., 2018 (Birtel et al., 2018a) 1 1
12 kb deletion including exons 1–3 of PRPF31 Dong et al., 2013 (Dong et al., 2013) 1 1
Deletion exons 1–5 Eisenberger et al., 2013 (Eisenberger et al., 2013); Birtel et al., 2018 (Birtel et al., 2018a) 2 2
Deletion Intron 1 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
Deletion exons 2-3 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
Duplication exons 2-5 Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
Deletion exons 2-5 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
Deletion exons 2-14 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
Duplication exons 4-5 Jespersgaard et al., 2019 (Jespersgaard et al., 2019) 1 1
Deletion exons 4-13 Weisschuh et al., 2016 (Weisschuh et al., 2016) 1 1
Deletion exon 9 Martin-Merida et al., 2018 (Martin-Merida et al., 2018) 1 1
Promoter mutation Rose et al., 2012 (Rose et al., 2012) 1 1
Insertion/deletion 149 bp deleted/640 bp inserted hg17 Deletion of 59,310,880–59,311,028/insertion of 59,292,594–59,291,955 reverse comp. Sullivan et al., 2006b (Sullivan et al., 2006b) 1 1 14/16/25/46 37/46/50/52/77
Deletion 4.8 kb hg 17 59,315,842–59,320,684 Sullivan et al., 2006b (Sullivan et al., 2006b) 1 1
Deletion 11.3 kb hg17 59,314,340–59,325,633 Sullivan et al., 2006b (Sullivan et al., 2006b) 1 1
Deletion 32–42 kb hg17 5′ breakpoint: 59,290,949–59,295,848; ′ breakpoint: 59,328,550–59,333,288 Sullivan et al., 2006b (Sullivan et al., 2006b) 1 1
Deletion >44.8 kb hg17 5′ breakpoint: <59,283,753; 3′ breakpoint: 59,328,550–59,333,288 Sullivan et al., 2006b (Sullivan et al., 2006b) 1 1
Deletion 19:54622548–54633842del11295 Carss et al., 2017 (Carss et al., 2017) 1 1
Deletion 19:54632279–54632481del203 Carss et al., 2017 (Carss et al., 2017) 1 1