St. Jude Research

DKC1 Database

DKC1 Visualization

The DKC1 Database is a curated repository of germline DKC1 variants identified in patients through published literature. Our goal is to provide a comprehensive knowledge base for understanding dyskeratosis congenita.

If you are interested in contributing variants, please contact wlodarskilab@stjude.org

DKC1 transcript version is NM_001363.3. Curated by Julia Weber. Last updated: 07/29/2025.

Patient ID DKC1 mutation (cDNA) DKC1 mutation (Prorotein) Type of mutation Zygosity Mutation origin PMID Patient also reported in (PMID) Family ID Disease Gender (M/F) Age at first presentation (yrs) Mucocutaneous triad Hematological presentation Abnormal Development Neurocognitive symptoms Malignancy Other phenotypes Short telomere length confirmed Co-occurring somatic mutations HSCT Outcome ChrX inactivation
P001 c.1205G>A p.Gly402Glu Missense Hemizygous Germline 9590285 1361371, 9886310 Family #001 Dyskeratosis congenita M 29 nail dystrophy, skin pigmentation, oral leukoplakia Y       respiratory failure, pulmonary fibrosis HSCTs (MUD & brother) Deceased  
P002 c.1205G>A p.Gly402Glu Missense Hemizygous Germline 9590285 1361371, 9886310 Family #001 Dyskeratosis congenita M 26 nail dystrophy, skin pigmentation, oral leukoplakia Y               Alive  
P003 c.1205G>A p.Gly402Glu Missense Hemizygous Germline 9590285 1361371, 9886310 Family #001 Dyskeratosis congenita M 12 nail dystrophy (12), skin pigmentation (12) Y               Alive  
P004 c.1205G>A p.Gly402Glu Missense Heterozygous Germline 9590285 1361371, 9886310 Family #001 Asymptomatic carrier F NA                      
P005 c.1205G>A p.Gly402Glu Missense Heterozygous Germline 9590285 1361371, 9886310 Family #001 Asymptomatic carrier F NA                      
P006 c.1205G>A p.Gly402Glu Missense Heterozygous Germline 9590285 1361371, 9886310 Family #001 Asymptomatic carrier F NA                      
P007 c.1205G>A p.Gly402Glu Missense Heterozygous Germline 9590285 1361371, 9886310 Family #001 Asymptomatic carrier F NA                      
P008 c.1205G>A p.Gly402Glu Missense Heterozygous Germline 9590285 1361371, 9886310 Family #001 Asymptomatic carrier F NA                      
P009 c.1205G>A p.Gly402Glu Missense Hemizygous Germline 9590285 1361371, 9886310 Family #001 Dyskeratosis congenita M 2 mucocutaneous features diagnostic of DC           Alive  
P010 c.214_215delinsTA p.Leu72Tyr Missense Hemizygous Germline 9590285 9886310 Family #002 Dyskeratosis congenita M NA mucocutaneous features diagnostic of DC              
P011 c.214_215delinsTA p.Leu72Tyr Missense Hemizygous Germline 9590285 9886310 Family #002 Dyskeratosis congenita M NA mucocutaneous features diagnostic of DC              
P012 c.214_215delinsTA p.Leu72Tyr Missense Heterozygous Germline 9590285 9886310 Family #002 Asymptomatic carrier F NA                      
P013 c.214_215delinsTA p.Leu72Tyr Missense Heterozygous Germline 9590285 9886310 Family #002 Asymptomatic carrier F NA                      
P014 c.214_215delinsTA p.Leu72Tyr Missense Heterozygous Germline 9590285 9886310 Family #002 Asymptomatic carrier F NA                      
P015 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 10 nail dystrophy (10), skin pigmentation (10)   epiphora (18), conjunctivitis, hyperhidrosis of palms and soles (18) Alive  
P016 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 10 nail dystrophy (10), skin pigmentation (10) Y     Y epiphora, hyperhidrosis     Deceased  
P017 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 10 nail dystrophy (10), skin pigmentation (10) Y         Deceased  
P018 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 9 nail dystrophy (9), skin pigmentation (9)     epiphora, hyperhidrosis of palms and soles Alive  
P019 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 9 nail dystrophy (9), skin pigmentation (9), oral leukoplakia epiphora, premature hair graying, hyperhidrosis of palms and soles, bilateral non-progressive sensorineural deafness which has been present since early childhood Alive  
P020 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 7 nail dystrophy (7), skin pigmentation (7)     recurrent conjunctivitis     Alive  
P021 c.119C>G p.Pro40Arg Missense Heterozygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Asymptomatic carrier F NA                      
P022 c.119C>G p.Pro40Arg Missense Heterozygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Asymptomatic carrier F NA                   Deceased  
P023 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Dyskeratosis congenita M 10 nail dystrophy (10), skin pigmentation (10)           Alive  
P024 c.119C>G p.Pro40Arg Missense Hemizygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Asymptomatic male M NA                   Alive  
P025 c.119C>G p.Pro40Arg Missense Heterozygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Asymptomatic carrier F NA                      
P026 c.119C>G p.Pro40Arg Missense Heterozygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Asymptomatic carrier F NA                      
P027 c.119C>G p.Pro40Arg Missense Heterozygous Germline 9590285 3009302, 9886310, 12737310, 7272212 Family #003 Asymptomatic carrier F NA                      
P028 exon 15 deletion p.del493-514 Intronic Hemizygous Germline 9590285 10438713, 12737310 Family #004 Dyskeratosis congenita M NA                      
P029 c.106T>G p.Phe36Val Missense Hemizygous Germline 9590285 9042917 Family #005 Dyskeratosis congenita M NA                      
P030 c.109_111del p.Leu37del Inframe deletion Hemizygous Germline 9590285 21602826, 20164838, 12890806, 9886310 Family #006 Dyskeratosis congenita M 7 nail dystrophy, skin pigmentation, oral leukoplakia     Y     Alive  
P031 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #007 Dyskeratosis congenita M NA                      
P032 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516 9886310 Family #008 Dyskeratosis congenita M NA                      
P033 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516 9886310 Family #009 Dyskeratosis congenita M NA                      
P034 c.115A>G p.Lys39Glu Missense Hemizygous Germline 10364516   Family #010 Dyskeratosis congenita M NA                      
P035 c.961C>G p.Leu321Val Missense Hemizygous Germline 10364516 9886310 Family #011 Dyskeratosis congenita M NA                      
P036 c.196A>G p.Thr66Ala Missense Hemizygous Germline 10364516 9888995, 12890806, 9886310 Family #012 Dyskeratosis congenita M NA                      
P037 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #013 Dyskeratosis congenita M NA                      
P038 c.1050G>A p.Met350Ile Missense Hemizygous Germline 10364516   Family #014 Dyskeratosis congenita M NA                      
P039 c.1204G>A p.Gly402Arg Missense Hemizygous Germline 10364516 11259155, 9886310 Family #015 Dyskeratosis congenita M NA                      
P040 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #016 Dyskeratosis congenita M NA                      
P041 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516 9886310 Family #017 Dyskeratosis congenita M NA                      
P042 c.1049T>C p.Met350Thr Missense Hemizygous Germline 10364516 11259155, 9886310 Family #018 Dyskeratosis congenita M NA                      
P043 c.194G>C p.Arg65Thr Missense Hemizygous Germline 10364516 11259155, 9886310 Family #019 Dyskeratosis congenita M NA                      
P044 c.121G>A p.Glu41Lys Missense Hemizygous Germline 10364516   Family #020 Dyskeratosis congenita M NA                      
P045 c.5C>T p.Ala2Val Missense Hemizygous Germline 10364516 11641517, 9886310 Family #021 Dyskeratosis congenita M 40 nail dystrophy, skin pigmentation, oral leukoplakia   alopecia, pulmonary fibrosis, interstitial pneumonia, restrictive pulmonary pattern (ex-smoker) Deceased  
P046 c.5C>T p.Ala2Val Missense Hemizygous Germline 10364516 11641517, 9886310 Family #021 Dyskeratosis congenita M 35 skin pigmentation, oral leukoplakia, left big toenail was dystrophic            
P047 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #022 Dyskeratosis congenita M NA                      
P048 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516 9886310 Family #023 Dyskeratosis congenita M NA                      
P049 c.85-5C>G p.= Intronic Hemizygous Germline 10364516   Family #024 Dyskeratosis congenita M NA                      
P050 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #025 Dyskeratosis congenita M NA                      
P051 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #026 Dyskeratosis congenita M NA                      
P052 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10364516   Family #027 Dyskeratosis congenita M NA                      
P053 c.361A>G p.Ser121Gly Missense Hemizygous Germline 10583221 7607282, 11259155 Family #028 Hoyeraal-Hreidarsson syndrome M NA   Y Y Y              
P054 c.146C>T p.Thr49Met Missense Hemizygous Germline 10583221   Family #029 Hoyeraal-Hreidarsson syndrome M NA   Y Y Y   recurrent diarrhea, immunodeficiency      
P055 c.1156G>A p.Ala386Thr Missense Hemizygous Germline 35463902   Family #030 Dyskeratosis congenita M NA nail dystrophy, skin pigmentation, oral leukoplakia              
P056 c.1156G>A p.Ala386Thr Missense Hemizygous Germline 35463902   Family #030 Dyskeratosis congenita M NA                      
P057 c.1156G>A p.Ala386Thr Missense Hemizygous Germline 35463902   Family #030 Dyskeratosis congenita M NA nail dystrophy, skin pigmentation, oral leukoplakia              
P058 c.1156G>A p.Ala386Thr Missense Heterozygous Germline 35463902   Family #030 Asymptomatic carrier F NA                      
P059 c.1156G>A p.Ala386Thr Missense Heterozygous Germline 35463902   Family #030 Asymptomatic carrier F NA                      
P060 c.1156G>A p.Ala386Thr Missense Heterozygous Germline 35463902   Family #030 Asymptomatic carrier F NA                      
P061 c.1156G>A p.Ala386Thr Missense Heterozygous Germline 35463902   Family #030 Asymptomatic carrier F NA                      
P062 c.166_167invCT p.Leu56Ser Missense Hemizygous Germline 18802941   Family #031 Dyskeratosis congenita M 1.5 nail dystrophy (5), skin pigmentation (5), oral leukoplakia (1.5) Y Y     epiphora, esophageal stricture, hemorrhagic syndrome Alive  
P063 c.166_167invCT p.Leu56Ser Missense Hemizygous Germline 18802941   Family #031 Dyskeratosis congenita M 6 nail dystrophy (6), skin pigmentation (6) Y               Alive  
P064 c.166_167invCT p.Leu56Ser Missense Heterozygous Germline 18802941   Family #031 Asymptomatic carrier F NA                      
P065 c.1345C>G p.Arg449Gly Missense Hemizygous Germline 36309505   Family #032 Hoyeraal-Hreidarsson syndrome M NA   Y   Y   recurrent infections Y        
P066 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10700698   Family #033 Hoyeraal-Hreidarsson syndrome M NA                      
P067 c.1058C>T p.Ala353Val Missense Hemizygous Germline 10921354   Family #034 NA M NA                      
P068 c.1058C>T p.Ala353Val Missense Hemizygous Germline 11379875   Family #035 Dyskeratosis congenita M NA                      
P069 c.1058C>T p.Ala353Val Missense Hemizygous Germline 11379875   Family #036 Dyskeratosis congenita M NA                      
P070 c.1058C>T p.Ala353Val Missense Hemizygous Germline 11379875   Family #037 Dyskeratosis congenita M NA                      
P071 c.1058C>T p.Ala353Val Missense Hemizygous Germline 11379875   Family #038 Dyskeratosis congenita M NA                      
P072 c.472C>T p.Arg158W Missense Hemizygous Germline 11379875 11259155 Family #039 Dyskeratosis congenita M NA                      
P073 c.838A>C p.Ser280Arg Missense Hemizygous Germline 11379875   Family #040 Dyskeratosis congenita M NA                      
P074 c.1049T>C p.Met350Thr Missense Hemizygous Germline 11379875 11259155 Family #041 Dyskeratosis congenita M NA                      
P075 c.1151C>T p.Pro384Leu Missense Hemizygous Germline 11379875   Family #042 Dyskeratosis congenita M NA                      
P076 c.-141C>G p.= Intronic Hemizygous Germline 11379875 9886310 Family #043 Dyskeratosis congenita M NA                      
P077 intron 1 mutation p.= Intronic Hemizygous Germline 11379875 9886310, 30179220 Family #044 NA M 10           enteropathy       Alive  
P078 c.1058C>T p.Ala353Val Missense Hemizygous Germline 11522545   Family #045 Dyskeratosis congenita M 6 nail dystrophy (6), skin pigmentation (6), oral leukoplakia (6) Y       chronic fatigue     Alive  
P079 c.1058C>T p.Ala353Val Missense Hemizygous Germline 11522545   Family #045 Dyskeratosis congenita M NA nail dystrophy, skin pigmentation, oral leukoplakia Y                  
P080 c.1058C>T p.Ala353Val Missense Heterozygous Germline 11522545   Family #045 Asymptomatic carrier F NA                      
P081 c.127A>G p.Lys43Glu Missense Hemizygous Germline 11491307   Family #046 Dyskeratosis congenita M 32   Y               Deceased  
P082 c.127A>G p.Lys43Glu Missense Hemizygous Germline 11491307   Family #046 Dyskeratosis congenita M 31   Y       lacrimation due to atresia of lacrimal ducts, ectropion, sparse eyelashes, decreased olfactory perception Alive  
P083 c.127A>G p.Lys43Glu Missense Heterozygous Germline 11491307   Family #046 Asymptomatic carrier F NA                      
P084 c.127A>G p.Lys43Glu Missense Heterozygous Germline 11491307   Family #046 Asymptomatic carrier F NA                      
P085 c.146C>T p.Thr49Met Missense Hemizygous Germline 11491307   Family #047 Hoyeraal-Hreidarsson syndrome M 2.75 nail dystrophy, skin pigmentation, oral leukoplakia Y Y Y   sparse hair       Deceased  
P086 c.146C>T p.Thr49Met Missense Heterozygous Germline 11491307   Family #047 Symptomatic carrier F NA nail dystrophy, oral leukoplakia             Alive  
P087 c.146C>T p.Thr49Met Missense Hemizygous Germline 11491307   Family #047 Dyskeratosis congenita M NA                   Deceased  
P088 c.146C>T p.Thr49Met Missense Hemizygous Germline 11491307   Family #047 Dyskeratosis congenita M NA           maldigestion     Deceased  
P089 c.146C>T p.Thr49Met Missense Hemizygous Germline 11491307   Family #047 Dyskeratosis congenita M NA         Y         Deceased  
P090 c.146C>T p.Thr49Met Missense Heterozygous Germline 11491307   Family #047 Asymptomatic carrier F NA                      
P091 c.146C>T p.Thr49Met Missense Heterozygous Germline 11491307   Family #047 Asymptomatic carrier F NA                      
P092 c.1058C>T p.Ala353Val Missense Heterozygous Germline 11491307   Family #048 Dyskeratosis congenita M 0 nail dystrophy, skin pigmentation (0), oral leukoplakia (8), tongue ulcers, dental caries epiphora (14), obstruction of lacrimal ducts, respiratory tract infections, respiratory tract infections since age 5 Alive  
P093 c.1193T>C p.Leu398Pro Missense Hemizygous Germline 12186364   Family #049 Hoyeraal-Hreidarsson syndrome M 0.25 nail dystrophy (3), skin pigmentation (3), oral leukoplakia (3) Y Y Y   frequent severe infectionsdeath of Pseudomonas aeruginosa sepsis Deceased  
P094 c.1193T>C p.Leu398Pro Missense Hemizygous Germline 12186364   Family #049 Dyskeratosis congenita M 3 nail dystrophy (4), skin pigmentation (4), oral leukoplakia (3) Y Y Y   pneumothorax     Alive  
P095 c.113T>C p.Ile38Thr Missense Hemizygous Germline 12437656 21284747 Family #050 Hoyeraal-Hreidarsson syndrome M 0.75 oral leukoplakia Y Y Y   thin/sparse scalp hair, persistent regurgitationesophageal refluxchronic diarrhea, pneumocystis carinii pneumonia, recurrant bacterial Candida infectionspneumocystis carinii pneumonia, GVHD sibling alloHSCT Alive  
P096 c.113T>C p.Ile38Thr Missense Heterozygous Germline 12437656 21284747 Family #050 Asymptomatic carrier F NA                      
P097 c.1058C>T p.Ala353Val Missense Hemizygous Germline 12513020   Family #051 Dyskeratosis congenita M 7 nail dystrophy (6), skin pigmentation (7), oral leukoplakia (14) Y       icteric sclerapale conjunctivae, thinning of scalp hair, enterocolitisdiarrhea, e. coli sepsis Deceased  
P098 c.1058C>T p.Ala353Val Missense Hemizygous Germline 12513020   Family #051 Dyskeratosis congenita M NA   Y     Y pneumothorax     Deceased  
P099 c.1058C>T p.Ala353Val Missense Heterozygous Germline 12513020   Family #051 Asymptomatic carrier F NA                      
P100 c.1050G>C p.Met350Ile Missense Hemizygous Germline 12681984   Family #052 Dyskeratosis congenita M 37 nail dystrophy, skin pigmentation, oral leukoplakia Y       atresia of lacrimal duct, sparse hair, loss of most teeth, appeared older than his stated age
P101 c.1050G>C p.Met350Ile Missense Heterozygous Germline 12681984   Family #052 Asymptomatic carrier F NA                      
P102 c.146C>T p.Thr49Met Missense Hemizygous Germline 14648217   Family #053 Hoyeraal-Hreidarsson syndrome M 1 nail dystrophy, oral leukoplakia Y Y Y   sparse hair, feeding problems from age 1, chronic diarrhea requiring nasogastric feeding Deceased  
P103 c.146C>T p.Thr49Met Missense Hemizygous Germline 14648217   Family #053 Hoyeraal-Hreidarsson syndrome M 0 oral leukoplakia Y Y Y   diarrhea from 1 month, progressive oesopphageal stenosis, atrophic and fibrotic duodenum, rectorrhagia, sepsis Deceased  
P104 c.146C>T p.Thr49Met Missense Heterozygous Germline 14648217   Family #053 Asymptomatic carrier F NA                      
P105 c.146C>T p.Thr49Met Missense Hemizygous Germline 14648217 21284747 Family #054 Hoyeraal-Hreidarsson syndrome M 0 nail dystrophy, oral leukoplakia Y Y Y   pyelonephritis with bilateral vesico-renal reflux, chronic diarrhea, non-inflamatory ulcerations of the oesophageal mucosa, relapsing infections Deceased  
P106 c.91C>A  p.Gln31Lys Missense Hemizygous Germline 15842668   Family #055 Dyskeratosis congenita M 7 nail dystrophy (5), skin pigmentation (8), oral leukoplakia (7) Y       liver dysfunction        
P107 c.1069A>G p.Thr357Ala Missense Hemizygous Germline 15842668   Family #056 Dyskeratosis congenita M 1 nail dystrophy (1), skin pigmentation (9), oral leukoplakia (1) Y       oesophageal strictures, urethral strictures    
P108 c.1058C>T p.Ala353Val Missense Hemizygous Germline 15842668   Family #057 Dyskeratosis congenita M 8 nail dystrophy (9), skin pigmentation (9), oral leukoplakia (9) Y       alopecia          
P109 c.1058C>T p.Ala353Val Missense Hemizygous Germline 15842668   Family #074 Dyskeratosis congenita M 2 nail dystrophy (2), oral leukoplakia (2) Y Y Y   no immunodeficiency        
P110 c.965G>A p.Arg322Gln Missense Hemizygous Germline 19879169 19879169, 27570172 Family #059 Dyskeratosis congenita M NA                      
P111 c.965G>A p.Arg322Gln Missense Heterozygous Germline 19879169 19879169, 27570172 Family #059 Asymptomatic carrier F NA                      
P112 c.949C>T p.Leu317Phe Missense Hemizygous Germline 19879169   Family #060 Dyskeratosis congenita M NA                      
P113 c.1226C>T p.Pro409Leu Missense Hemizygous Germline 15304085   Family #062 Dyskeratosis congenita M 20 nail dystrophy, skin pigmentation, oral leukoplakia   excessive lacrimation, conjunctivitis, dysphagia, dystrophy with patches of leukoplakia on coronary sulcus of the penis, dysuria Alive  
P114 c.1226C>T p.Pro409Leu Missense Hemizygous Germline 15304085   Family #062 Dyskeratosis congenita M 20                   Alive  
P115 c.1226C>T p.Pro409Leu Missense Hemizygous Germline 15304085   Family #062 Dyskeratosis congenita M 20                   Alive  
P116 c.1226C>T p.Pro409Leu Missense Heterozygous Germline 15304085   Family #062 Asymptomatic carrier F NA                      
P117 c.1226C>T p.Pro409Leu Missense Hemizygous Germline 15304085   Family #062 NA M NA                      
P118 c.1226C>T p.Pro409Leu Missense Hemizygous Germline 15304085   Family #062 NA M NA                      
P119 c.1226C>T p.Pro409Leu Missense Hemizygous Germline 15304085   Family #062 NA M NA                      
P120 c.1226C>T p.Pro409Leu Missense Heterozygous Germline 15304085   Family #062 Asymptomatic carrier F NA                      
P121 c.1226C>T p.Pro409Leu Missense Heterozygous Germline 15304085   Family #062 Asymptomatic carrier F NA                      
P122 c.1226C>T p.Pro409Leu Missense Heterozygous Germline 15304085   Family #062 Asymptomatic carrier F NA                      
P123 c.1226C>T p.Pro409Leu Missense Heterozygous Germline 15304085   Family #062 Asymptomatic carrier F NA                      
P124 c.1058C>T p.Ala353Val Missense Hemizygous Germline 15304085   Family #063 Dyskeratosis congenita M 5 nail dystrophy (6), skin pigmentation (10), oral leukoplakia (5), palmoplantar hyperkeratosis epiphora (10), dysphagia     Alive  
P125 c.1058C>T p.Ala353Val Missense Hemizygous Germline 15304085   Family #063 Dyskeratosis congenita M NA                   Alive  
P126 c.1058C>T p.Ala353Val Missense Heterozygous Germline 15304085   Family #063 Asymptomatic carrier F NA                      
P127 c.91C>G p.Gln31Glu Missense Hemizygous Germline 15349768 21415081 Family #064 Dyskeratosis congenita M 33 oral leukoplakia Y               Alive  
P128 c.91C>G p.Gln31Glu Missense Heterozygous Germline 15349768 21415081 Family #064 Asymptomatic carrier F NA                      
P129 c.29C>T p.Pro10Leu Missense Hemizygous Germline 16332973   Family #065 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P130 c.200C>T p.Thr67Ile Missense Hemizygous Germline 16332973 12737310 Family #066 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P131 c.204C>A p.H68Gln Missense Hemizygous Germline 16332973   Family #067 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P132 c.941A>G p.Lys314Arg Missense Hemizygous Germline 16332973   Family #068 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P133 c.1075G>A p.Asp359Asn Missense Hemizygous Germline 16332973   Family #069 Dyskeratosis congenita M NA                      
P134 c.1156G>A p.Ala386Thr Missense Hemizygous Germline 16332973   Family #070 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P135 c.1223C>T p.Thr408Ile Missense Hemizygous Germline 16332973   Family #071 Dyskeratosis congenita M NA                      
P136 c.1258_1259AG>TA p.Ser420Tyr Missense Hemizygous Germline 16332973   Family #072 Dyskeratosis congenita M NA                      
P137 intron 14 mutation p.= Intronic Hemizygous Germline 16332973   Family #073 Dyskeratosis congenita M NA                      
P138 c.941A>G p.Lys314Arg Missense Hemizygous Germline 16332973   Family #093 Dyskeratosis congenita M NA                      
P139 c.5C>T p.Ala2Val Missense Hemizygous Germline 16987292   Family #075 Dyskeratosis congenita M 36 nail dystrophy, skin pigmentation, oral leukoplakia, leucokeratosis of the tongue Y Y bilateral lung emphysema, scrotum malignancies Alive  
P140 c.1050G>A p.Met350Ile Missense Hemizygous Germline 15789197   Family #076 Dyskeratosis congenita M 37 nail dystrophy, skin pigmentation, oral leukoplakia Y Y     epiphora, tear duct atresia, sparse hair, scarred esophageal stricture, moderate restriction of lung diffusion capacity Alive  
P141 c.1050G>A p.Met350Ile Missense Heterozygous Germline 15789197   Family #076 Asymptomatic carrier F NA                      
P142 c.1150C>T p.Pro384Ser Missense Hemizygous Germline 19227430   Family #077 Dyskeratosis congenita M 1 nail dystrophy, skin pigmentation, oral leukoplakia Y Y     hair thinning, dental caries, dysphagia   Alive  
P143 c.1150C>T p.Pro384Ser Missense Hemizygous Germline 19227430   Family #077 NA M NA   Y       infection          
P144 c.214C>T p.Leu72Phe Missense Hemizygous Germline 17417794   Family #078 Dyskeratosis congenita M 4 nail dystrophy, skin pigmentation, oral leukoplakia Y       upper respiratory tract infection, fever and easy bruising Alive  
P145 c.1058C>T p.Ala353Val Missense Hemizygous Germline 19633571   Family #079 Hoyeraal-Hreidarsson syndrome M 0.75   Y Y Y   esophageal dysmotility/stenosis, watery diarrhea since 8 months, nonspecific pancolitis and ileitis with pieces of dissected mucosal tissue floating in the lumen, colonitis, pneumocystis jiroveci pneumonia, infections, pneumocystis jiroveci pneumonia Deceased  
P146 c.1133G>A p.Arg378Gln Missense Hemizygous Germline 19633571   Family #080 Hoyeraal-Hreidarsson syndrome M 1.5   Y Y Y   esophageal dysmotility/stenosis, bloody diarrhea, colonitis, infections Deceased  
P147 intron 12 splice site mutation p.= Splice Hemizygous Germline 18627054 21659346 Family #081 Hoyeraal-Hreidarsson syndrome M 0   Y Y Y   pulmonary hemorrhage, axial hypotonia, high-arched palate Deceased  
P148 intron 12 splice site mutation p.= Splice Heterozygous Germline 18627054   Family #081 Asymptomatic carrier F NA                     52% (non-skewed) XCI
P149 c.146C>T p.Thr49Met Missense Hemizygous Germline 19489057   Family #082 Hoyeraal-Hreidarsson syndrome M 1             Y     Alive  
P150 c.-171A>T  p.= Intronic Heterozygous Germline 19489057   Family #083 Hoyeraal-Hreidarsson syndrome F 0.5   Y         Y intronic TERT polymorphism/mutation Alive  
P151 c.-171A>T  p.= Intronic Hemizygous Germline 19489057   Family #083 NA M NA             Y intronic TERT polymorphism/mutation  
P152 c.1058C>T p.Ala353Val Missense Hemizygous Germline 20954562   Family #084 Dyskeratosis congenita M 8 nail dystrophy (8), skin pigmentation, oral leukoplakia (10) Y   dysphagia (9), hypogonadism, phimosis   Alive  
P153 c.1058C>T p.Ala353Val Missense Hemizygous Germline 20954562   Family #084 Dyskeratosis congenita M 9 nail dystrophy (9), skin pigmentation (9), oral leukoplakia (9) Y       progressive dysphagia, severe jaundice   Deceased  
P154 c.1058C>T p.Ala353Val Missense Heterozygous Germline 20954562   Family #084 Asymptomatic carrier F NA                      
P155 c.1058C>T p.Ala353Val Missense Heterozygous Germline 20954562   Family #084 Asymptomatic carrier F NA                      
P156 c.1058C>T p.Ala353Val Missense Hemizygous Germline 20079002   Family #085 Dyskeratosis congenita M 1 nail dystrophy, skin pigmentation, oral leukoplakia Y       multisystem abnormalities   Alive  
P157 NA p.Gln31Glu Missense Hemizygous Germline 18931339   Family #086 Dyskeratosis congenita M NA                      
P158 NA p.Thr66Ala Missense Hemizygous Germline 18931339   Family #087 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P159 NA p.Ser304Asn Missense Hemizygous Germline 18931339   Family #088 Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome M NA                      
P160 c.949C>G p.Leu317Val Missense Hemizygous Germline 18931339   Family #089 Dyskeratosis congenita M NA                      
P161 c.1058C>T p.Ala353Val Missense Hemizygous Germline 18931339   Family #090 Dyskeratosis congenita M NA                      
P162 c.1058C>T p.Ala353Val Missense Hemizygous Germline 18931339   Family #091 Dyskeratosis congenita M NA                      
P163 NA p.Ala386Thr Missense Hemizygous Germline 18931339   Family #092 Dyskeratosis congenita M NA                      
P164 c.1058C>T p.Ala353Val Missense Hemizygous Germline 20091372   Family #094 Dyskeratosis congenita M 2 nail dystrophy (2), skin pigmentation (2), oral leukoplakia Y       epiphora (8), low testicular volume (1.5 ml bilaterally) Alive  
P165 c.1058C>T p.Ala353Val Missense Hemizygous Germline 20091372   Family #094 Dyskeratosis congenita M 12 nail dystrophy, skin pigmentation     respiratory failure, fibrotic patches in right mid-zone and left mid- and lower-zone visible on chest x-ray Deceased  
P166 c.1058C>T p.Ala353Val Missense Heterozygous Germline 20091372   Family #094 Asymptomatic carrier F NA                      
P167 c.85-5C>G p.= Intronic Hemizygous Germline 20153999   Family #095 Dyskeratosis congenita M NA                   Alive  
P168 c.85-5C>G p.= Intronic Heterozygous Germline 20153999   Family #095 Asymptomatic carrier F NA                      
P169 c.1058C>T p.Ala353Val Missense Hemizygous Germline 20205257   Family #096 Hoyeraal-Hreidarsson syndrome M 0 nail dystrophy, oral leukoplakia Y Y Y           Alive  
P170 c.1066T>C p.Ser356Pro Missense Hemizygous Germline 21736606   Family #097 Dyskeratosis congenita M 5 nail dystrophy, skin pigmentation, oral leukoplakia Y       mild restrictive pulmonary pattern, plaques of eczema around eyes and mouth HSCT Alive  
P171 c.1066T>C p.Ser356Pro Missense Hemizygous Germline 21736606   Family #097 Dyskeratosis congenita M NA nail dystrophy, skin pigmentation, oral leukoplakia Y       epiphora, plaques of eczema around eyes and mouth Alive  
P172 c.1058C>T p.Ala353Val Missense Hemizygous Germline 21601430   Family #098 Dyskeratosis congenita M 5 nail dystrophy (6), skin pigmentation (5), oral leukoplakia (6) Y Y     epiphora, premature hair loss, difficulty swallowing (age 6), oesophageal stricture, interstitial lung disease, dry cough, shortness of breath (age 20), sinus tachycardia, hypogonadism Alive  
P173 c.1058C>T p.Ala353Val Missense Hemizygous Germline 21601430   Family #098 Dyskeratosis congenita M NA nail dystrophy, skin pigmentation, oral leukoplakia   hyperhidrosis        
P174 c.1058C>T p.Ala353Val Missense Heterozygous Germline 21601430   Family #098 Asymptomatic carrier F NA                      
P175 c.214C>T p.Leu72Phe Missense Hemizygous Germline 21605101   Family #099 Dyskeratosis congenita M 18 nail dystrophy, skin pigmentation (~18), oral leukoplakia Y               Alive  
P176 c.202C>T p.H68Tyr Missense Hemizygous Germline 21931702   Family #100 Hoyeraal-Hreidarsson syndrome M 1                   Alive  
P177 c.202C>T p.H68Tyr Missense Hemizygous Germline 21931702   Family #100 NA M NA                      
P178 c.227C>T p.Ser76Leu Missense Hemizygous Germline 21931702   Family #101 Dyskeratosis congenita M 15             Y     Alive  
P179 c.114C>G p.Ile38Met Missense Hemizygous Germline 21931702   Family #102 Dyskeratosis congenita M 19                   Alive  
P180 c.112_116delinsTCAAC p.38_39delinsSerThr Missense Hemizygous Germline 21659346   Family #103 Dyskeratosis congenita M NA                      
P181 c.5C>T p.Ala2Val Missense Hemizygous Germline 22664374   Family #104 Hoyeraal-Hreidarsson syndrome M 2 oral leukoplakia Y Y Y   esophageal stenosis Y     Alive  
P182 c.1168_1170delAAG p.Lys390del Inframe deletion Hemizygous Germline 22664374   Family #105 Dyskeratosis congenita M 32 nail dystrophy, skin pigmentation, oral leukoplakia, adermatoglyphia Y       epiphora, phimosis Y     Alive  
P183 c.1168_1170delAAG p.Lys390del Inframe deletion Heterozygous Germline 22664374   Family #105 Asymptomatic carrier F NA             Y        
P184 c.203A>G p.H68Arg Missense Hemizygous Germline 22664374   Family #106 Dyskeratosis congenita M 36 nail dystrophy, skin pigmentation, oral leukoplakia Y     Y penis erythroplakia Y        
P185 c.145A>T p.Thr49Ser Missense Hemizygous Germline 23946118   Family #107 Atypical dyskeratosis congenita M 42   Y       hair graying (42), osteoporosis, idiopathic pulmonary fibrosis Y     Deceased  
P186 c.145A>T p.Thr49Ser Missense Heterozygous Germline 23946118   Family #107 Symptomatic carrier F 20           premature hair graying (20), wound dehiscence post-surgery age 23 Y     Alive 93% XCI
P187 c.1226C>G p.Pro409Arg Missense Hemizygous Germline 23946118   Family #108 Dyskeratosis congenita M 6 nail dystrophy (6), skin pigmentation (6), oral leukoplakia, frequent caries Y     Y liver cirrhosis     Alive  
P188 c.1226C>G p.Pro409Arg Missense Hemizygous Germline 23946118   Family #108 Dyskeratosis congenita M 18 nail dystrophy, skin pigmentation (18), oral leukoplakia Y     Y         Alive  
P189 c.1226C>G p.Pro409Arg Missense Heterozygous Germline 23946118   Family #108 Symptomatic carrier F 6 nail dystrophy (6), skin pigmentation (6)     retinal macroaneurysm, anosmia   Alive 100% XCI
P190 c.1226C>G p.Pro409Arg Missense Heterozygous Germline 23946118   Family #108 Symptomatic carrier F 6 skin pigmentation (6), fragile teeth, frequent caries, cutaneous telengiectasia fragile teeth       Alive 100% XCI
P191 c.1226C>G p.Pro409Arg Missense Heterozygous Germline 23946118   Family #108 Symptomatic carrier F 7 nail dystrophy, skin pigmentation (7) Y Y   premature hair graying (14)   Alive  
P192 c.1226C>G p.Pro409Arg Missense Heterozygous Germline 23946118   Family #108 Symptomatic carrier F NA nail dystrophy, skin pigmentation             Deceased  
P193 c.194G>A p.Arg65Lys Missense Hemizygous Germline 24284296   Family #109 Dyskeratosis congenita M 30 nail dystrophy, skin pigmentation (30), oral leukoplakia, atrophic epidermis Y       fibrotic nonspecific interstitial pneumonia (lung infiltrates, shortness of breath, hypoxia, right pneumothorax age 25, loss of lung volume, traction bronchiectasis) Y     Deceased  
P194 c.194G>A p.Arg65Lys Missense Hemizygous Germline 24284296   Family #109 Dyskeratosis congenita M 2 skin pigmentation (<2)               Alive  
P195 c.1058C>T p.Ala353Val Missense Hemizygous Germline 24635067   Family #110 Dyskeratosis congenita M 6 nail dystrophy (20), skin pigmentation (6), oral leukoplakia (6), actinic keratiosis, photodamaged skin Y   epiphora (20), bilateral ectropion, benign ventriculoseptal defect, hyperhidrosis ("excessive sweating on forehead and axillae") Alive  
P196 c.1058C>T p.Ala353Val Missense Heterozygous Germline 24635067   Family #110 Asymptomatic carrier F NA                      
P197 c.1213A>G p.Thr405Ala Missense Hemizygous Germline 24504062   Family #111 Dyskeratosis congenita M 69 nail dystrophy, skin pigmentation Y       idiopathic pulmonary fibrosis, 2 yr history of dyspnea & cough, diabetes, hypertension, prior tobacco use Y     Deceased  
P198 c.1213A>G p.Thr405Ala Missense Hemizygous Germline 24504062   Family #111 Dyskeratosis congenita M 65 nail dystrophy, skin pigmentation Y       idiopathic pulmonary fibrosis Y     Deceased  
P199 c.1213A>G p.Thr405Ala Missense Heterozygous Germline 24504062   Family #111 Asymptomatic carrier F NA             Y        
P200 c.1213A>G p.Thr405Ala Missense Heterozygous Germline 24504062   Family #111 Asymptomatic carrier F NA             Y        
P201 c.1213A>G p.Thr405Ala Missense Heterozygous Germline 24504062   Family #111 Asymptomatic carrier F NA             Y        
P202 c.1213A>G p.Thr405Ala Missense Heterozygous Germline 24504062   Family #111 Asymptomatic carrier F NA                      
P203 c.146C>T p.Thr49Met Missense Hemizygous Germline 24914498   Family #112 Hoyeraal-Hreidarsson syndrome M NA   Y Y Y   jaundice at birth, petechia on face and trunk at 5 months HSCT at 18 months  
P204 c.146C>T p.Thr49Met Missense Hemizygous Germline 24914498   Family #112 Asymptomatic carrier F NA                      
P205 c.146C>T p.Thr49Met Missense Hemizygous Germline 24914498   Family #112 Hoyeraal-Hreidarsson syndrome M 3   Y Y Y   recurrent infections post-HSCT HSCT at 12 months, died at 3 years Deceased  
P206 c.-141C>G p.= Intronic Hemizygous Germline 25239263   Family #113 Dyskeratosis congenita M 15 clubbed digits, eczema, angioedema? Y Y Y   dry eyes, narrow rib cage, larygomalacia, chronic cough, failure to thrive, chronic joint pain, chronic cough, steatorrhea Y     Alive  
P207 c.189T>G p.Asn63Lys Missense Hemizygous Germline 25455995   Family #114 Dyskeratosis congenita M 9 nail dystrophy, skin pigmentation, oral leukoplakia, clubbing of all digits Y Y Y   alopecia, persistant cough, dyspnea, pulmonary fibrosis, hypoplastic testes, interstitial pneumonia, fever Y     Alive  
P208 c.1049T>C p.Met350Thr Missense Hemizygous Germline 25499969   Family #115 Dyskeratosis congenita M 35 nail dystrophy, skin pigmentation (9), oral leukoplakia (25) Y         Y     Alive  
P209 c.85-15T>C p.= Intronic Hemizygous Germline 25907943   Family #116 NA M 8 nail dystrophy, skin pigmentation, oral leukoplakia           Alive  
P210 c.85-15T>C p.= Intronic Heterozygous Germline 25907943   Family #116 Symptomatic carrier F NA                      
P211 c.314T>G p.Val105Gly Missense Heterozygous Germline 26360549   Family #117 Aplastic anemia F NA   Y                  
P212 c.363T>G p.Ser121Arg Missense Heterozygous Germline 26360549   Family #118 Aplastic anemia F NA   Y                  
P213 c.838A>C p.Ser280Arg Missense Hemizygous Germline 27622320 40179146 Family #120 Dyskeratosis congenita M 9 nail dystrophy, mucocuteneous features Y Y Y   chronic kidney disease, osteopenia, pulmonary adenovirus s/p bilateral lung transplant complicated by bronchiolitis obliterans with organizing pneumonia, endocrine dysfunction, adrenal insufficiency, immunodeficiency Y     Deceased  
P214 c.-35G>A p.= Missense Hemizygous Germline 27622320 40179146 Family #121 Dyskeratosis congenita M 21 nail dystrophy, skin pigmentation, oral leukoplakia Y   Y   cirrhosis, esophageal web/stricture, cardiac cushion defect, urethral stricture, diarrhea Y 14% somatic reversion clone at age 21, Age 30-31: U2AF1 c.101C>T p. S34F NM_006758.2 (VAF 2%), HFE NM_000410.3:c.187C>G p.H63D het SF3A1 NM_005877:c.1083T>A p.D361E (48% VUS) cnLOH over CTC1 and TERC Alive  
P215 c.-35G>A p.= Missense Heterozygous Germline 27622320 40179146 Family #121 Asymptomatic carrier F NA                     skewed XCI towards WT allele
P216 c.1058C>T p.Ala353Val Missense Hemizygous Germline 27622320 40179146 Family #122 Dyskeratosis congenita M 24         Y   Y     Deceased  
P217 c.91C>G p.Gln31Glu Missense Hemizygous Germline 27622320 40179146 Family #123 Dyskeratosis congenita M 53 oral leukoplakia Y     Y   Y acquired somatic alteration TTN NM_001267550.2:c.10030C>T p.P3344S (33%) at age 53 (see Sande et. al., 2025 S3 for more details)
P218 c.160C>G p.Leu54Val Missense Hemizygous Germline 27570172 21602826 Family #124 Dyskeratosis congenita M 43 nail dystrophy, skin pigmentation, oral leukoplakia Y       lacrimal duct stenosis Y     Alive  
P219 c.160C>G p.Leu54Val Missense Heterozygous Germline 27570172 21602826 Family #124 Symptomatic carrier F 65 nail dystrophy, "abnormal nails" Y       nonalcoholic liver cirrhosis, early tooth loss Deceased  
P220 c.160C>G p.Leu54Val Missense Heterozygous Germline 27570172 21602826 Family #124 Symptomatic carrier F NA nail dystrophy, "ridged nails"     alopecia         skewed XCI
P221 c.103_105delGAA p.Glu35del Inframe deletion Heterozygous Germline 27570172 21602826 Family #125 Symptomatic carrier F 0 nail dystrophy (0), skin pigmentation (10)   early graying since age 10     Alive completely skewed XCI
P222 c.103_105delGAA p.Glu35del Inframe deletion Hemizygous Germline 27570172 21602826 Family #125 Hoyeraal-Hreidarsson syndrome M 3   Y             HSCT Deceased  
P223 c.103_105delGAA p.Glu35del Inframe deletion Heterozygous Germline 27570172 21602826 Family #125 Asymptomatic carrier F 40                     completeley skewed XCI
P224 c.103_105delGAA p.Glu35del Inframe deletion Hemizygous Germline 27570172 21602826 Family #125 Hoyeraal-Hreidarsson syndrome M NA   Y               Deceased  
P225 c.1168A>C p.Lys390Gln Missense Heterozygous Germline 27570172 21602826 Family #126 Asymptomatic carrier F 55                   Alive skewed XCI
P226 c.109_111delCTT p.Leu37del Inframe deletion Heterozygous Germline 27570172 21602826 Family #127 Asymptomatic carrier F NA                     skewed XCI
P227 c.109_111delCTT p.Leu37del Inframe deletion Heterozygous Germline 27570172 21602826 Family #127 Asymptomatic carrier F NA                     skewed XCI
P228 c.941A>G p.Lys314Arg Missense Heterozygous Germline 27570172 21602826 Family #128 Asymptomatic carrier F NA                      
P229 c.965G>A p.Arg322Gln Missense Heterozygous Germline 27570172 21602826 Family #129 Asymptomatic carrier F NA                      
P230 c.196A>G p.Thr66Ala Missense Heterozygous Germline 27570172 21602826 Family #130 Asymptomatic carrier F NA                     skewed XCI
P231 c.961C>A p.Leu321Ile Missense NA Germline 27033759   Family #131 NA NA NA                      
P232 c.1058C>T p.Ala353Val Missense NA Germline 27033759   Family #132 NA NA NA                      
P233 c.1058C>T p.Ala353Val Missense NA Germline 27033759   Family #133 NA NA NA                      
P234 c.1072T>G p.C358Gly Missense Hemizygous Germline 26951492   Family #134 Hoyeraal-Hreidarsson syndrome M 0 oral leukoplakia (0.5) Y Y Y   primary asphyxia at birth, respiratory failure, neonatal infection, anhydramnion Deceased  
P235 c.1072T>G p.C358Gly Missense Heterozygous Germline 26951492   Family #134 Asymptomatic carrier F NA                      
P236 c.196A>G p.Thr66Ala Missense Hemizygous Germline 27418648   Family #137 Dyskeratosis congenita M 10 nail dystrophy (10), skin pigmentation (10) Y       sibling HSCT Deceased  
P237 c.-142C>G p.= Intronic Hemizygous Germline 27418648   Family #138 NA M 9                 sibling HSCT Alive  
P238 exon 2-15 duplication NA CNV Hemizygous Germline 27577878   Family #139 Hoyeraal-Hreidarsson syndrome M NA                      
P239 exon 2-15 duplication NA CNV Heterozygous Germline 27577878   Family #139 Asymptomatic carrier F NA                     100% skewed XCI
P240 exon 2-15 duplication NA CNV Heterozygous Germline 27577878   Family #139 Asymptomatic carrier F NA                     100% skewed XCI
P241 exon 2-15 duplication NA CNV Heterozygous Germline 27577878 5442429 Family #139 Asymptomatic carrier F NA           uterine myoma, positive toxoplasma tests   100% skewed XCI
P242 exon 2-15 duplication NA CNV Hemizygous Germline 27577878 5442429 Family #139 Hoyeraal-Hreidarsson syndrome M 0 skin pigmentation (0.5), Multiple ecchymoses and petechiae, left-sided pes equinovarus Y Y Y   easy bruising (0.75y)     Deceased  
P243 exon 2-15 duplication NA CNV Hemizygous Germline 27577878 5442429 Family #139 Hoyeraal-Hreidarsson syndrome M 0 skin pigmentation (0.5), oral leukoplakia (2), pale, purpuric lesions of the skin and mucous rnembranes, aphtous stomatitis, Increasing brown skin pigmentation was seen, herpes zoster Y Y Y   hematemesis, centro-lobular hepatic degeneration (liver disease), spleen hyperemia, moderate renal tubular degeneration (kidney disease), adiponecrosis around the pancreas, thymus was small and to a great extent replaced by fat, gastroenteritis, melena, aphtous stomatitis, recurrent otitis, gastroenteritis, aphtous stomatitis, herpes zoster, giant cell pneumonia, readily bruised from the age of 5 months, positive toxoplasma tests, slightly icteric (jaundiced), recurrent otitis Deceased  
P244 c.472C>T p.Arg158W Missense Hemizygous Germline 23279657   Family #140 Hoyeraal-Hreidarsson syndrome M 3   Y Y     Dysphagia-solids, Esophageal stenosis cricopharynx Y        
P245 c.949C>T p.Leu317Phe Missense Hemizygous Germline 23279657   Family #141 Dyskeratosis congenita M 8 nail dystrophy (8), oral leukoplakia     lacrimal duct stenosis, pill and solid food dysphagia, tapered stricture at the level of the esophageal cervicothoracic junction, membranous web which occupied greater than 50% of the esophageal lumen, marked improvement of his dysphasia after dilatation, proximal duodenal biopsy revealed increased epithelial apoptosis., urethral stenosis, post-prandial abdominal discomfort Y        
P246 c.1156G>A p.Ala386Thr Missense Hemizygous Germline 29081935   Family #142 Hoyeraal-Hreidarsson syndrome M 0 skin pigmentation (1), oral leukoplakia (0.5) Y Y     petechial genital rash also spread over neck and shoulders Y        
P247 c.1156G>A p.Ala386Thr Missense Hemizygous Germline 29081935   Family #142 Hoyeraal-Hreidarsson syndrome M 1.5 nail dystrophy (3), skin pigmentation (3) Y Y              
P248 c.1156G>A p.Ala386Thr Missense Heterozygous Germline 29081935   Family #142 Asymptomatic carrier F NA                      
P249 c.1156G>A p.Ala386Thr Missense Heterozygous Germline 29081935   Family #142 Asymptomatic carrier F NA                      
P250 c.1133G>A p.Arg378Gln Missense Hemizygous Germline 28930861   Family #143 Hoyeraal-Hreidarsson syndrome M 4     Y Y   pancolitis, immunodeficiency   Alive  
P251 c.923C>G p.Ala308Gly Missense Hemizygous Germline 30179220 29463756,  Family #144 Hoyeraal-Hreidarsson syndrome M 0 skin, nails, and oral mucosa were unremarkable Y Y Y   enterocolitis, poor feeding, chronic loose stools, bloody diarrhea, cryptitis with crypt dropout and distortion and reduced but present plasma cells, small intestinal mucosa, prominent crypt apoptosis and absent lamina propria plasma cells, respiratory failure, hydronephrosis, recurrent culture negative sepsis Y     Deceased  
P252 c.85-5C>G p.= Intronic Hemizygous Germline 30179220 29463756, 32076714 Family #145 Dyskeratosis congenita M 33   Y     Y            
P253 c.1054A>G p.Thr352Ala Missense Hemizygous Germline 29801475   Family #146 Dyskeratosis congenita M 15 nail dystrophy (15), skin pigmentation (15), oral leukoplakia, hyperkeratosis of palms and soles Y       liver failure, splenomegaly of 13 cm, watery eyes (epiphora), premature graying of hair, dental caries, severe dysphagia and vomiting, recurrent febrile episodes Y     Deceased  
P254 c.1054A>G p.Thr352Ala Missense Hemizygous Germline 29801475   Family #146 NA M NA                      
P255 c.1054A>G p.Thr352Ala Missense Hemizygous Germline 29801475   Family #146 NA M NA                      
P256 c.1054A>G p.Thr352Ala Missense Hemizygous Germline 29801475   Family #146 NA M NA                      
P257 c.1054A>G p.Thr352Ala Missense Hemizygous Germline 29801475   Family #146 Dyskeratosis congenita M 26           febrile illness     Deceased  
P258 c.1054A>G p.Thr352Ala Missense Hemizygous Germline 29801475   Family #146 Dyskeratosis congenita M 50           tuberculosis       Deceased  
P259 c.1054A>G p.Thr352Ala Missense Heterozygous Germline 29801475   Family #146 Symptomatic carrier F NA nail dystrophy, skin pigmentation                
P260 c.203A>G p.H68Arg Missense Hemizygous Germline 29483670   Family #147 Dyskeratosis congenita M 18 nail dystrophy, skin pigmentation Y         Y     Alive  
P261 c.1218_1219insCAG p.Asp406_Ser407insGln Inframe deletion Hemizygous Germline 30115091 30185935 Family #148 Dyskeratosis congenita M 3 nail dystrophy (5), skin pigmentation (5), oral leukoplakia (10), leukoplakia, erythema, ulcers Y   dental caries, blunted roots in most premolars and molar teeth, vesicoureteral reflux, urinary tract infections, chronic mucocutaneous candidiasis Y     Alive  
P262 c.1218_1219insCAG p.Asp406_Ser407insGln Inframe deletion Hemizygous Germline 30115091 30185935 Family #148 Dyskeratosis congenita M 26 nail dystrophy, skin pigmentation, oral leukoplakia, leukoplakia, erythema, ulcers Y   steatosis, recurrent genital Candida infections Y     Alive  
P263 c.1218_1219insCAG p.Asp406_Ser407insGln Inframe deletion Heterozygous Germline 30115091 30185935 Family #148 Symptomatic carrier F 52 psoriasis         glaucoma, early hair graying (teens), all changes on the left side Y     Alive 0% mutant allele in blood
P264 c.1218_1219insCAG p.Asp406_Ser407insGln Inframe deletion Hemizygous Germline 30115091 30185935 Family #148 Dyskeratosis congenita M 46 nail dystrophy, skin pigmentation             Deceased  
P265 c.1218_1219insCAG p.Asp406_Ser407insGln Inframe deletion Heterozygous Germline 30185935   Family #148 Symptomatic carrier F 59 nail dystrophy, skin pigmentation, reticular streak of hyperpigmentation on the back of both thigs, and along the lateral left leg.all changes on left side Y       steatosis (fatty liver), glaucoma, retinal ablation on left side, early hair graying (teens), aggressive periodontitis, had lost most of her teeth, mild fibrosis (exsmoker), AMI, mild cerebral infarction in 50s Y       45% mutant allele in blood
P266 c.1218_1219insCAG p.Asp406_Ser407insGln Inframe deletion Heterozygous Germline 30185935   Family #148 Symptomatic carrier F 56 nail dystrophy, skin pigmentation, hyperkeratosis on hands and feet, reticular hyperpigmented streaks on inner upper thigh and groin Y       early hair graying (30s), armpit hyperhidrosis (since adolescence) Y       5% mutant allele in blood
P267 c.361A>G p.Ser121Gly Missense Hemizygous Germline 31027506   Family #149 Dyskeratosis congenita M 2 skin pigmentation (9), oral leukoplakia (17), purpuric lesions Y     Y hepatomegaly, moderate splenomegaly, bloody stool (18y), chronic otitis media (age 2) HSCT Deceased  
P268 0.36-Mb gain at Xq28 of maternal origin, encompassing DKC1 NA CNV Hemizygous Germline 31602194   Family #150 Hoyeraal-Hreidarsson syndrome M 0     Y     postnatal cardiorespiratory arrest, postnatal cardiorespiratory arrest, foramen ovale, secondary adrenal insufficiency, progeria, craniofacial dysmorphisms including: a large nasal bridge, hypertelorism, long philtrum, thin upper and lower lips, retrognathism, low-set ears, enlarged eyebrows
P269 0.36-Mb gain at Xq28 of maternal origin, encompassing DKC1 NA CNV Heterozygous Germline 31602194   Family #150 Asymptomatic carrier F NA                      
P270 c.1058C>T p.Ala353Val Missense Hemizygous Germline 31269755   Family #151 Hoyeraal-Hreidarsson syndrome M 0 nail dystrophy (0), skin pigmentation (0), oral leukoplakia (0) Y Y Y   non-cirrhotic non-icteric hepatic biochemical abnormalities, hepatopulmonary syndrome, severe upper gastrointestinal bleeding, esophago-gastric varices, watery then bloody diarrhea with cramping abdominal pain, severe enterocolitis, pulmonary arteriovenous shunting, aggrivated respiratory symptoms, died primarily of respiratory compromise, very severe hepatopulmonary syndrome, diarrhea, enterocolitis, parotitis, erythematous & bullous-like foreskin lesion, difficulty urinating, obstructive phimosis, upper respiratory infections, CMV reactivation, e. coli UTI, influenza, Kocuria rosea sepsis, portal hypertension, stage 2 skin acute GVHD Y   MUD-HSCT Deceased  
P271 c.1058C>T p.Ala353Val Missense Heterozygous Germline 31269755   Family #151 Asymptomatic carrier F NA                      
P272 c.1177A>T p.Ile393Ser Missense Hemizygous Germline 30868555   Family #152 Dyskeratosis congenita M 5 nail dystrophy (5), skin pigmentation (10), oral leukoplakia (10), leukoplakia, loss of papillae, fluid-filled lesions in the oral cavity, hyperlinear palms Y       high SGOT and SGPT levels, mild splenomegaly, severe photosensitivity, dysphagia, abdominal pain, loss of appetite, esophageal stricture, melena Y     Alive  
P273 c.1177A>T p.Ile393Ser Missense Heterozygous Germline 30868555   Family #152 Asymptomatic carrier F NA             Y        
P274 c.146C>T p.Thr49Met Missense Hemizygous Germline 33003434   Family #153 Dyskeratosis congenita M 31 nail dystrophy, oral leukoplakia Y       liver fibrosis, early hair graying, lung fibrosis Y     Alive  
P275 c.146C>T p.Thr49Met Missense Hemizygous Germline 33003434   Family #153 Dyskeratosis congenita M NA                      
P276 c.1058C>T p.Ala353Val Missense Hemizygous Germline 32076714   Family #154 Dyskeratosis congenita M 38 mucocuteneous symptoms typical of DC Y         Alive  
P277 c.-142C>G p.= Intronic Hemizygous Germline 32166868   Family #155 BMF M 0 nail dystrophy, finger clubbing, eczema with some skin ulceration Y Y     cirrhosis with bile ductular proliferation, portal hypertension, liver transplant, underwent splenectomy, early renal impairment, exocrine pancreatic insufficiency, cryptosporidium diarrhea, esophageal varices, pulmonary stenosis at birth, progressive dyspnea on exertion, hypospadias at birth, proteinuria, recurrent bacterial pneumonia, otitis media, common variable immunodeficiency (CVID), spontaneous bacterial peritonitis, systemic hypertension, ascites, umbilical hernia Y     Alive  
P278 c.616G>A p.Glu206Lys Missense Hemizygous Germline 32554502   Family #156 Hoyeraal-Hreidarsson syndrome M 0     Y     nephrosis, focal segmental glomerulosclerosis, cataracts, enterocolitis in infancy, hearing impairment Deceased  
P279 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 60           hearing impairment     Alive  
P280 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 58           glaucoma, hearing impairment   Alive  
P281 c.616G>A p.Glu206Lys Missense Hemizygous Germline 32554502   Family #156 Hoyeraal-Hreidarsson syndrome M 0.5   Y       nephrosis, focal segmental glomerulosclerosis, cataracts, enterocolitis (0.5 y), hearing impairment Deceased  
P282 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 16 skin pigmentation, mild finger clubbing, hyperkeratosis Y Y   mesangial proliferative glomerulonephritis, cataracts (16 y), retinitis pigmentosa, microphthalmia, sensorineural hearing impairment with a modiolus (17 y), mandibluar hypoplasia, maxillary hypoplasia Alive skewed XCI towards WT in PBMCs
P283 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 8     Y Y   cataracts (14 y), hearing impairment (8 y), mandibluar hypoplasia, maxillary hypoplasia Alive  
P284 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 10     Y     cataracts (17 y), hearing impairment (10 y) Alive  
P285 c.616G>A p.Glu206Lys Missense Hemizygous Germline 32554502   Family #156 Hoyeraal-Hreidarsson syndrome M 0.5     Y     nephrosis, focal segmental glomerulosclerosis, enterocolitis (0.5 y), hearing impairment Deceased  
P286 c.616G>A p.Glu206Lys Missense Hemizygous Germline 32554502   Family #156 Hoyeraal-Hreidarsson syndrome M 2           nephrosis (>2 y), focal segmental glomerulosclerosis, cataracts (2 y), enterocolitis, hearing impairment (2 y) Deceased  
P287 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 1.5 nail dystrophy Y Y   nephrosis (2 y), cataracts (4 y), retinitis pigmentosa, microphthalmia, hearing impairment (1.5 y) Y     Alive skewed XCI towards mutated in fibroblasts & skin, towards wt in PBMCs
P288 c.616G>A p.Glu206Lys Missense Hemizygous Germline 32554502   Family #156 Hoyeraal-Hreidarsson syndrome M 0.5   Y Y     nephrosis (2.5 y), cataracts (0.5 y), enterocolitis (0.5 y), hearing impairment (0.5 y) Deceased  
P289 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 20           pigmentary retinopathy     Alive  
P290 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Symptomatic carrier F 10           cataracts, pigmentary retinopathy, nonnephrotic proteinuria (10 y), hearing impairment Alive  
P291 c.616G>A p.Glu206Lys Missense Hemizygous Germline 32554502   Family #156 Hoyeraal-Hreidarsson syndrome M 3   Y Y     nephrosis, focal segmental glomerulosclerosis, cataracts (3 y), enterocolitis (5 y), hearing impairment (3.5 y) Deceased  
P292 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 Asymptomatic carrier F 15                   Alive  
P293 c.616G>A p.Glu206Lys Missense Heterozygous Germline 32554502   Family #156 NA F NA                      
P294 c.1051A>G p.Thr351Ala Missense Hemizygous Germline 32452087   Family #157 Dyskeratosis congenita M 7 nail dystrophy, skin pigmentation (7), oral leukoplakia, petechia Y Y Y   fungal infection of the skin Y     Alive  
P295 c.1226C>G p.Pro409Arg Missense Hemizygous Germline 33165394   Family #158 Dyskeratosis congenita M 12 nail dystrophy (14), skin pigmentation (12), oral leukoplakia (18)         Alive  
P296 c.1226C>G p.Pro409Arg Missense Hemizygous Germline 33165394   Family #158 Dyskeratosis congenita M NA   Y                  
P297 c.1226C>G p.Pro409Arg Missense Hemizygous Germline 33165394   Family #158 Dyskeratosis congenita M NA oral leukoplakia (~18), surgical removal of oral leukoplakia at 20 y Y            
P298 c.1226C>G p.Pro409Arg Missense Heterozygous Germline 33165394   Family #158 Asymptomatic carrier F NA                      
P299 c.1226C>G p.Pro409Arg Missense Hemizygous Germline 33165394   Family #158 NA M NA                      
P300 c.942G>A p.Lys314Lys Nonsense Hemizygous Germline 32710892   Family #159 BMF M 16   Y     Y need for renal replacement therapy, early graying (16 y), pulmonary fibrosis, invasive fungal infection Y     Deceased  
P301 c.942G>A p.Lys314Lys Nonsense Heterozygous Germline 32710892   Family #159 Symptomatic carrier F 35           early graying (18 y)     Alive  
P302 c.942G>A p.Lys314Lys Nonsense Heterozygous Germline 32710892   Family #159 Asymptomatic carrier F 69                   Alive 100% skewed XCI
P303 c.942G>A p.Lys314Lys Nonsense Hemizygous Germline 32710892   Family #159 Dyskeratosis congenita M 53           pulmonary fibrosis     Deceased  
P304 c.942G>A p.Lys314Lys Nonsense Hemizygous Germline 32710892   Family #159 Dyskeratosis congenita M 68           pulmonary fibrosis     Deceased  
P305 c.942G>A p.Lys314Lys Nonsense Hemizygous Germline 32710892   Family #159 Asymptomatic male M 47             Y     Alive  
P306 c.-142C>G p.= Intronic Hemizygous Germline 33921653   Family #160 Hoyeraal-Hreidarsson syndrome M 0     Y Y   ptosis of left eyelid     Alive  
P307 c.-142C>G p.= Intronic Heterozygous Germline 33921653   Family #160 Asymptomatic carrier F NA                      
P308 c.1246T>A p.Tyr416Asn Missense Hemizygous Germline 33191321   Family #161 Dyskeratosis congenita M 42 nail dystrophy (13), skin pigmentation (13), oral leukoplakia (20) Y     Y advanced A2/F3 liver fibrosis, pre-liver cirrhosis, mild loss of head hair, dental abnormality, usual interstitial pneumonia (UIP), progressive pulmonary fibrosis, reticular shadow and volume loss in lower lung field, reticulation with lower lobe predominance, traction bronchiectasis, ex-smoker Y     Alive  
P309 c.1246T>A p.Tyr416Asn Missense Hemizygous Germline 33191321   Family #161 Solid tumor M 74         Y         Deceased  
P310 c.1246T>A p.Tyr416Asn Missense Hemizygous Germline 33191321   Family #161 Solid tumor M 50         Y         Deceased  
P311 c.1246T>A p.Tyr416Asn Missense Hemizygous Germline 33191321   Family #161 Solid tumor M 81         Y         Alive  
P312 c.1246T>A p.Tyr416Asn Missense Heterozygous Germline 33191321   Family #161 Asymptomatic carrier F 70                   Alive  
P313 partial deletion of the 3' UTR NA 3' UTR deletion Hemizygous Germline 35845273   Family #162 Dyskeratosis congenita M 7 nail dystrophy (7), skin pigmentation (7), oral leukoplakia Y       mild dysphagia, celiac disease Y     Alive  
P314 partial deletion of the 3' UTR NA 3' UTR deletion Heterozygous Germline 35845273   Family #162 Symptomatic carrier F 20 nail dystrophy Y         Y     Alive  
P315 partial deletion of the 3' UTR NA 3' UTR deletion Heterozygous Germline 35845273   Family #162 Symptomatic carrier F 45 nail dystrophy, skin pigmentation, one dysplastic nail, mild skin pigmentation Y       premature graying (from mid-teens) Y     Alive  
P316 partial deletion of the 3' UTR NA 3' UTR deletion Heterozygous Germline 35845273   Family #162 Symptomatic carrier F 46 skin pigmentation, mild skin pigmentation Y                  
P317 partial deletion of the 3' UTR NA 3' UTR deletion Hemizygous Germline 35845273   Family #162 Dyskeratosis congenita M 32 nail dystrophy, skin pigmentation, oral leukoplakia Y       cirrhosis, dysphagia, pulmonary fibrosis, celiac disease, adermatoglyphia Deceased  
P318 partial deletion of the 3' UTR NA 3' UTR deletion Heterozygous Germline 35845273   Family #162 Symptomatic carrier F 70 nail dystrophy, skin pigmentation, five dysplastic nails, mild skin pigmentation Y               Alive  
P319 partial deletion of the 3' UTR NA 3' UTR deletion Heterozygous Germline 35845273   Family #162 Symptomatic carrier F 56   Y     Y         Deceased  
P320 partial deletion of the 3' UTR NA 3' UTR deletion Hemizygous Germline 35845273   Family #162 NA M 30           lung disease       Deceased  
P321 c.146C>T p.Thr49Met Missense Hemizygous Germline 33734615   Family #163 Hoyeraal-Hreidarsson syndrome M 1 skin pigmentation, oral leukoplakia Y Y Y   chronic diarrhea with mucus and blood in stool (2 y) Alive  
P322 c.92A>C p.Gln31Pro Missense Hemizygous Germline 36111181   Family #165 Dyskeratosis congenita M 13 nail dystrophy, skin pigmentation (13), oral leukoplakia, Mild longitudinal ridges, onychoschizia and brown lines of fingernails. Y     Alive  
P323 c.92A>C p.Gln31Pro Missense Hemizygous Germline 36111181   Family #165 Dyskeratosis congenita M NA             Y        
P324 c.1058C>T p.Ala353Val Missense Hemizygous Germline 36111181   Family #166 Dyskeratosis congenita M 7 nail dystrophy (7), skin pigmentation (7), oral leukoplakia (14)   Y     Alive  
P325 c.1058C>T p.Ala353Val Missense Heterozygous Germline 36111181   Family #166 Asymptomatic carrier F NA                      
P326 c.1058C>T p.Ala353Val Missense Hemizygous Germline 36111181   Family #167 Dyskeratosis congenita M 10 nail dystrophy (10), skin pigmentation (10), oral leukoplakia (10), partial loss of the tip of the tongue Y       abnormal liver function, trachoma, pulmonary fungal infection, poor health Y     Alive  
P327 c.84+7A>G p.= Intronic Hemizygous Germline 35384376   Family #168 Hoyeraal-Hreidarsson syndrome M 0   Y Y     liver dysfunction, recurrent infections and fever since infancy, cytomeglovirus infection, epstien-barr virus, parainfluenza virus 3, septic shock Y     Deceased  
P328 c.84+7A>G p.= Intronic Hemizygous Germline 35384376   Family #168 NA M in utero                   Deceased  
P329 c.84+7A>G p.= Intronic Hemizygous Germline 35384376   Family #168 NA M in utero                   Deceased  
P330 c.84+7A>G p.= Intronic Hemizygous Germline 35384376   Family #168 NA M in utero                   Deceased  
P331 c.84+7A>G p.= Intronic Heterozygous Germline 35384376   Family #168 Asymptomatic carrier F NA           4 miscarriages Y        
P332 c.84+7A>G p.= Intronic Heterozygous Germline 35384376   Family #168 Asymptomatic carrier F NA                      
P333 c.84+7A>G p.= Intronic Hemizygous Germline 35384376   Family #168 NA M NA                      
P334 c.84+7A>G p.= Intronic Hemizygous Germline 35384376   Family #168 NA M NA                      
P335 c.84+7A>G p.= Intronic Heterozygous Germline 35384376   Family #168 Asymptomatic carrier F NA                      
P336 c.84+7A>G p.= Intronic Heterozygous Germline 35384376   Family #168 Asymptomatic carrier F NA                      
P337 c.1517C>T p.Ala506Val Missense Hemizygous Germline 35922444   Family #169 NA M NA   Y                  
P338 c.1058C>T p.Ala353Val Missense Hemizygous Germline 38572035   Family #170 Dyskeratosis congenita M 3 nail dystrophy (3), skin pigmentation (3), oral leukoplakia (5) Y       difficulty swallowing, stenosis of the upper end of the esophagus, normal pulmonary function Alive  
P339 c.967T>C p.Tyr323H Missense Hemizygous Germline 37885072   Family #171 Dyskeratosis congenita M 1 nail dystrophy (3), skin pigmentation (3), oral leukoplakia (1) Y       epiphora, dysphagia due to esophageal stenosis Y     Alive  
P340 c.1058C>T p.Ala353Val Missense Hemizygous Germline 39144644   Family #172 Dyskeratosis congenita M 24 nail dystrophy, skin pigmentation, oral leukoplakia Y       entropion, blurred vision in right eye, dense yellow-white exudates along the vascular distribution in both eyes, patchy hemorrhages, retinal necrosis, macular edema, trichiasis, pneumocystis jirovecii pneumonia, immunodeficiency, CMVR, recurrent opportunistic infections, poor overall condition Deceased  
P341 c.1058C>T p.Ala353Val Missense Heterozygous Germline 39144644   Family #172 Symptomatic carrier F NA   Y               Deceased  
P342 c.189T>G p.Asn63Lys Missense Hemizygous Germline 39002862   Family #173 Dyskeratosis congenita M 9 nail dystrophy, skin pigmentation, oral leukoplakia Y Y     hepatorenal syndrome, hepatorenal syndrome, right eye vitreous hemorrhage, pulmonary arteriovenous malformations, pneumonia, CMV viremia, Gram+ bacteremia, HSV oral, PNA, cellulitis, malnutrition Y   alloHCT (9.7 y) Alive  
P343 c.85-5C>G p.= Intronic Hemizygous Germline 39002862   Family #174 Dyskeratosis congenita M 13 nail dystrophy Y       pneumonia, Strep p. pharyngitis, cellulitis Y   2 alloHCTs (13.1 y & 15 y) Alive  
P344 c.1058C>T p.Ala353Val Missense Hemizygous Germline 39002862   Family #175 Dyskeratosis congenita M 29   Y     Y CMV viremia, Chronic GvHD (moderate, affecting oral, ocular, skin), allosensitization, mild iron overload from transfusions alloHCT (29.7 y) Alive  
P345 c.1058C>T p.Ala353Val Missense Hemizygous Germline 39760622   Family #176 NA M NA                      
P346 c.1223C>T p.Thr408Ile Missense Hemizygous Germline 40061174   Family #177 Dyskeratosis congenita M 25 nail dystrophy, skin pigmentation (14) Y       grade II mucositis, CMV reactivation, grade II febrile neutropenia RUNX1 mutation (c.297C>A) 19% VAF in BM alloHCT (25 y) Deceased  
P347 c.1223C>T p.Thr408Ile Missense Heterozygous Germline 40061174   Family #177 Asymptomatic carrier F NA                      
P348 c.1223C>T p.Thr408Ile Missense Heterozygous Germline 40061174   Family #177 Asymptomatic carrier F NA                      
P349 c.1223C>T p.Thr408Ile Missense Heterozygous Germline 40061174   Family #177 Asymptomatic carrier F NA                      
P350 c.145A>T p.Thr49Ser Missense Hemizygous Germline 40047910   Family #178 Dyskeratosis congenita M 11 nail dystrophy, skin pigmentation Y       liver cirrhosis, alopecia, osteopenia, consanguinity present Alive  
P351 c.145A>T p.Thr49Ser Missense Hemizygous Germline 40047910   Family #178 Dyskeratosis congenita M 16   Y               Alive  
P352 c.145A>T p.Thr49Ser Missense Hemizygous Germline 40047910   Family #178 Dyskeratosis congenita M 49         Y         Alive  
P353 c.145A>T p.Thr49Ser Missense Hemizygous Germline 40047910   Family #178 Dyskeratosis congenita M 56         Y         Alive  
P354 c.145A>T p.Thr49Ser Missense Hemizygous Germline 40047910   Family #178 Dyskeratosis congenita M 62         Y         Alive  
P355 c.145A>T p.Thr49Ser Missense Hemizygous Germline 40047910   Family #178 Dyskeratosis congenita M 59         Y         Alive  
P356 c.91C>A  p.Gln31Lys Missense Hemizygous Germline 40189296   Family #179 Dyskeratosis congenita M 12 nail dystrophy (12), skin pigmentation, oral leukoplakia Y   Y   epiphora, lacrimal duct obstruction, alopecia, hair loss at age 30, dysphagia due to esophageal stenosis, exertional dyspnea, pulmonary fibrosis, interstitial pneumonia Y somatic U2AF1 missense mutation c.C101T (p.S34F) in exon 2 (13% VAF in leukocytes) Deceased  
P357 c.1260-3C>A p.? Splice Heterozygous Germline 40265669   Family #180 Growth retardation, developmental delay F 0   Y Y Y   gastric tube during postnatal period, gastroenteritis episodes, recurrent episodes of apnea with aspiration, recurrent febrile infections, pneumonia Y de novo variant in the PABPC1 gene (NM_002568.4: c.136A>G p.(Met46Val)) Alive 64% XCI in blood-derived DNA
P358 c.1346G>A p.Arg449Gln Missense Hemizygous Germline 39938003 29749397 Family #181 Dyskeratosis congenita M 20 skin pigmentation, DC stigmata Y   Y   liver disease, early hair greying, lung fibrosis, interstitial lung disease, cardiac disease Y     Deceased  
P359 c.1346G>A p.Arg449Gln Missense Heterozygous Germline 39938003   Family #181 Symptomatic carrier F 65.8 skin pigmentation, DC stigmata     early hair greying Y     Alive  
P360 c.109_111delCTT p.Leu37del Inframe deletion Hemizygous Germline 39933875   Family #182 Dyskeratosis congenita M 7 nail dystrophy, oral leukoplakia     dysphagia, haematemesis     Alive  
P361 c.109_111delCTT p.Leu37del Inframe deletion Hemizygous Germline 39933875   Family #182 Dyskeratosis congenita M 17 skin pigmentation, adermatoglyphia Y       refractory epiphora, melena, haemoptysis, phimosis Deceased  
P362 c.1225C>T p.Pro409Ser Missense Hemizygous Germline 40634789   Family #183 Dyskeratosis congenita M 39 nail dystrophy, skin pigmentation, oral leukoplakia, adermatoglyphia, oral erythroplakia Y               Deceased  
P363 c.1225C>T p.Pro409Ser Missense Hemizygous Germline 40634789   Family #183 Dyskeratosis congenita M 34 nail dystrophy, skin pigmentation, oral leukoplakia, adermatoglyphia, oral erythroplakia     Alive  
P364 c.1225C>T p.Pro409Ser Missense Hemizygous Germline 40634789   Family #183 Dyskeratosis congenita M 30s nail dystrophy, skin pigmentation, oral leukoplakia, adermatoglyphia, oral erythroplakia liver fibrosis, respiratory system abnormalities Deceased  
P365 c.1225C>T p.Pro409Ser Missense Hemizygous Germline 40634789   Family #183 Dyskeratosis congenita M 30s nail dystrophy, skin pigmentation, oral leukoplakia, adermatoglyphia, oral erythroplakia liver fibrosis, respiratory system abnormalities Deceased  
P366 c.1225C>T p.Pro409Ser Missense Hemizygous Germline 40634789   Family #183 Dyskeratosis congenita M 30s nail dystrophy, skin pigmentation, oral leukoplakia, adermatoglyphia, oral erythroplakia liver fibrosis, respiratory system abnormalities Deceased  
P367 c.1058C>T p.Ala353Val Missense Hemizygous Germline 40179146   Family #184 Dyskeratosis congenita M 16 mucocuteneous features Y       osteopenia/osteoporosis, esophageal web/stricture, urethral stricture Alive  
P368 c.29C>T p.Pro10Leu Missense Hemizygous Germline 40179146   Family #185 Dyskeratosis congenita M 17 mucocuteneous features Y     Y hepatic angiosarcoma post-transplant, osteopenia/osteoporosis, esophageal web/stricture, immunodeficiency Y   HSCT Alive  
P369 c.1255T>A p.Tyr419Asn Missense Hemizygous Germline 40179146   Family #186 Dyskeratosis congenita M 28 mucocuteneous features Y     Y   Y     Deceased  
P370 c.915+10G>A p.= Intronic Hemizygous Germline 40179146 34343137 Family #187 Dyskeratosis congenita M 52 mucocuteneous features Y     Y lung disease   RTEL1 NM_032957.4:c.2980 C>T p.Q994X het Deceased  
P371 c.1259+5G>C p.= Intronic Hemizygous Germline 40179146   Family #188 Dyskeratosis congenita M 4   Y       immunodeficiency Y     Alive  
P372 c.1476+1G>C p.= Intronic Hemizygous Germline 40179146   Family #189 Dyskeratosis congenita M 8   Y       cirrhosis Y   HSCT Alive  
P373 c.1259G>A p.Ser420Asn Missense Hemizygous Germline 40179146   Family #190 Dyskeratosis congenita M 16 mucocuteneous features Y       early greying, immunodeficiency Y germline heterozygous WRAP53 NM_018081:c.230C>T p.T77I (VUS) Alive  
P374 c.5C>T p.Ala2Val Missense Hemizygous Germline 40179146   Family #191 Dyskeratosis congenita M 10 mucocuteneous features Y     Y luminal webbing or stenosis, synchronous gastric and anorectal adenocarcinoma post-transplant Y   HSCT Deceased  
P375 c.915+10G>A p.= Intronic Hemizygous Germline 40179146   Family #192 Dyskeratosis congenita M 9 mucocuteneous features Y       kidney transplant, joint dysplasia/avascular necrosis Y   HSCT Alive  

Abbreviations
BMF: bone marrow failure, DC: dyskeratosis congenita, HSCT: hematopoietic stem cell transplantation, MUD-HSCT: matched unrelated donor HSCT, XCI: chromosome X inactivation