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Table 1 The 80 mosaic variants detected in the probands

From: A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

 PatientGeneRefseq IDMosaic variantsCategoryAAF
AD1FARID1ANM_006015c.2914delG (p.D972fs)Path17.5%
2MARID2NM_152641c.4741C>T (p.P1581S)VOUS20.0%
3MASXL1NM_015338c.2083_2084delCA (p.Q695fs)Path28.7%
4MCOL12A1NM_004370c.533G>T (p.R178I)VOUS16.5%
5FCREBBPNM_004380c.5991delC (p.V1998fs)Path25.0%
6MCREBBPNM_004380c.1447C>T (p.R483*)Path23.3%
7MDNM1NM_004408c.415G>C (p.G139R)LP24.7%
8MDNMT3ANM_175629c.2260C>T(p.L754F)LP18.0%
9MDYNC1H1NM_001376c.5497G>A (p.A1833T)VOUS24.2%
10MEEF1A2NM_001958c.796C>T(p.R266W)Path32.0%
11FELNNM_001081755c.1711G>A (p.A571T)VOUS22.8%
12UENGNM_000118c.67+2T>GLP11.8%
13FEP300NM_001429c.2660C>T(p.T887I)LP12.0%
14FGABRB2NM_000813c.664G>T (p.V222F)LP20.8%
15FGJA1NM_000165c.433G>A(p.V145M)VOUS16.0%
16FHNRNPKNM_002140c.1003G>A (p.G335S)VOUS17.8%
17MIDH2NM_002168c.419G>A (p.R140Q)Path19.6%
18MKANSL1NM_001193466c.868C>T (p.R290*)VOUS11.6%
19MKCNT1NM_020822c.1421G>A (p.R474H)Path29.0%
20FKIF1BNM_015074c.2710G>A (p.E904K)VOUS17.3%
21FKMT2ANM_001197104c.3581G>A (p.C1194Y)LP36.0%
22MKMT2DNM_003482c.10938_10939delinsT (p.P3647fs)Path27.8%
23MKMT2DNM_003482c.8506C>T (p.R2836C)VOUS10.4%
24FNALCNNM_052867c.1783G>T (p.V595F)LP25.8%
25MNF1NM_001042492c.5907_5908delAA (p.R1970fs)Path10.4%
26FNF2NM_000268c.810+1G>T(N/A)Path15.0%
27FNLRC4NM_021209c.512C>T (p.S171F)LP25.3%
28MNOTCH2NM_024408c.118A>G (p.M40V)VOUS29.0%
29FPIK3CANM_006218c.1359_1361delAGA(p.E453del)Path15.0%
30MPOLGNM_002693c.2557C>T (p.R853W)VOUS10.4%
31FPTPN11NM_002834c.1403C>T(p.T468M)LP17.0%
32MSNTG1NM_018967c.814A>T (p.K272*)VOUS12.8%
33FSYNGAP1NM_006772c.1630C>T(p.R544*)Path11.0%
34MTRAF7NM_032271c.1111C>G (p.R371G)VOUS13.3%
35MTWIST2NM_057179c.223G>C(p.E75Q)Path24.0%
36FROBO1NM_002941c.3055T>G(p.Y1019D)LP20.0%
AD/AR37FACTA1NM_001100c.1003C>T (p.P335S)VOUS14.4%
38FCOL6A3NM_004369c.3932A>T(p.N1311I)VOUS25.0%
39FSLC25A4NM_001151c.706C>T (p.R236C)VOUS15.2%
AD/somatic40UBRAFNM_004333c.1786G>C (p.G596R)VOUS15.6%
41MKRASNM_004985c.355G>A (p.D119N)VOUS20.8%
42MWT1NM_024426c.865_867delinsAA (p.Y289fs)Path34.6%
43FHRASNM_005343c.38G>A (p.G13D)Path19.0%
 44MMTORNM_004958c.7255G>A (p.E2419K)LP22.3%
45MMTORNM_004958c.7247C>A (p.A2416D)LP16.0%
46MMTORNM_004958c.5930C>T (p.T1977I)Path21.5%
47MPIK3CANM_006218c.1030G>A (p.V344M)LP24.4%
48FPIK3CANM_006218c.1093G>A (p.E365K)Path12.7%
AR49MADGRV1NM_032119c.16368G>T (p.K5456N)VOUS23.7%
50MALG6NM_013339c.52C>T (p.R18*)Path17.9%
51FCOX15NM_004376c.1129A>T (p.K377*)Path12.1%
52FCWF19L1NM_018294c.70delA (p.R24fs)Path14.0%
53MGNPTGNM_032520c.376G>A (p.G126S)VOUS18.7%
54FZMPSTE24NM_005857c.1077dupT (p.L362fs)VOUS79.7%
Somatic55MIDH1NM_005896c.395G>A (p.R132H)LP14.0%
56MTET2NM_001127208c.3961A>T (p.K1321*)VOUS30.2%
XL57FALG13NM_001099922c.320A>G (p.N107S)Path10.9%
58FCDKL5NM_003159c.593G>A (p.G198D)VOUS11.6%
59FDDX3XNM_001193416c.573_575del (p.I191del)LP21.1%
60FDDX3XNM_001193416c.1805G>A (p.R602Q)VOUS13.9%
61FHCFC1NM_005334c.1004A>G (p.Y335C)LP16.4%
62FNAA10NM_003491c.247C>T (p.R83C)Path16.2%
63FOPHN1NM_002547c.1817C>T (p.S606F)VOUS18.2%
64FSNX14NM_153816c.1050T>A(p.F350L)VOUS18.0%
65FZC4H2NM_018684c.199C>T (p.R67*)LP24.2%
66MNEXMIFNM_001008537c.862G>T(p.E288*)Path20.0%
67MCASKNM_003688c.913_914dupAA (p.G306fs)Path47.2%
68MCLIC2NM_001289c.255A>T(p.K85N)VOUS11.0%
69MDMDNM_004006c.583C>T (p.R195*)Path14.3%
70MGRIA3NM_000828c.1936T>C (p.S646P)VOUS61.9%
71MGRIA3NM_000828c.1981A>G (p.M661V)LP37.9%
72MHUWE1NM_031407c.8987G>A(p.R2996Q)VOUS13.0%
73MKDM5CNM_004187c.469T>A (p.Y157N)LP44.6%
74MKDM6ANM_021140c.2172_2173delAT(p.L725fs)Path11.0%
75ML1CAMNM_000425c.2357T>A(p.I786N)LP85.0%
76MOTCNM_000531c.1048C>T (p.Q350*)Path10.8%
77MPCDH19NM_001184880c.919G>A (p.E307K)VOUS75.9%
78MPDHA1NM_000284c.265G>A (p.G89S)VOUS17.1%
79MTTNNM_133378c.87881T>C(p.V29294A)VOUS10.0%
80MUBA1NM_003334c.1631G>A (p.R544Q)VOUS30.1%
  1. F female, M male, Path pathogenic, LP likely pathogenic, AAF alternate allele fraction
  2. Bold genes showed up more than one time