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Table 2 The 40 mosaic variants detected in the parental or grandparental samples

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

 Patient IDGeneRefseq IDMosaic variantsCategoryAAF
Detected in the mother
 AD81 M-PGMDYRK1ANM_001396c.41C>T (p.S14F)VOUS.
82M-MoATP1A3NM_152296c.410C>A (p.S137Y)Path14.9%
83M-MoCACNA1ANM_001127221c.400-3C>T(N/A)LP27.7%
84U-MoCOL4A1NM_001845c.2879G>T (p.G960V)LP17.6%
85F-MoEPHA7NM_004440c.595A>T (p.K199*)VOUS8.7%
86F-MoFGFR2NM_000141c.289G>A (p.A97T)VOUS18.3%
87F-MoGARSNM_002047c.815T>G (p.L272R)VOUS21.1%
88M-MoGH1NM_000515c.291+2T>GPath11.8%
89F-MoGNAO1NM_020988c.736G>C(p.E246Q)LP9.7%
90F-MoMPZNM_000530c.392A>C (p.N131T)LP13.2%
91U-Mo*MYH3NM_002470c.2015G>A (p.R672H)Path7.4%
92M-MoSCN1BNM_199037c.794G>C (p.R265P)VOUS33.2%
93M-Mo*TUBBNM_178014c.860C>T (p.P287L)LP3.1%
 AD/AR94M-MoTUBB3NM_006086c.862G>C (p.E288Q)LP17.3%
95M-MoMAT1ANM_000429c.896G>A (p.R299H)VOUS14.3%
 AD/somatic96M-MoZNF423NM_015069c.2531G>A (p.G844E)LP25.3%
 AR97M-MoFGFR1NM_023110c.1982G>A (p.R661Q)VOUS20.4%
 XL98F-MoFAT4NM_024582c.8805C>A (p.Y2935*)Path9.1%
99M-MoARXNM_139058c.1003T>C (p.F335L)VOUS7.8%
100M-MoATP7ANM_000052c.3445C>T (p.Q1149*)Path6.5%
101F-MoATRXNM_000489c.477delA (p.K159fs)Path10.1%
102M-MoAVPR2NM_000054c.335G>T (p.C112F)LP11.4%
103M-MoCUL4BNM_003588c.2722C>T (p.Q908*)VOUS3.1%
104M-Mo*SLC16A2NM_006517c.590G>A (p.R197H)Path6.0%
105M-MoSLC6A8NM_005629c.1697T>C (p.L566P)VOUS15.5%
Detected in the father
 AD107F-FaADCY5NM_183357c.3574C>T (p.R1192*)VOUS17.1%
108M-FaARID1BNM_020732c.6322C>T (p.Q2108*)Path6.8%
109M-FaCACNA1ANM_001127221c.3533C>T (p.P1178L)VOUS29.5%
110M-FaCACNA1ANM_001127221c.653C>T (p.S218L)Path15.7%
111M-Fa*COL1A1NM_000088c.3709_3716del (p.S1237fs)Path6.4%
112F-FaCREBBPNM_004380c.5238_5239delinsT (p.L1747fs)Path33.2%
113F-FaDNM1NM_004408c.709C>T (p.R237W)Path8.1%
114M-FaDYRK1ANM_001396c.1162dupG (p.A388fs)Path17.6%
115F-Fa*SATB2NM_015265c.1174G>C (p.G392R)LP15.2%
116F-Fa*SCN2ANM_021007c.2562+1G>TPath24.6%
117F-FaSPTLC1NM_006415c.1072G>C (p.E358Q)LP6.5%
118F-FaSTXBP1NM_003165c.704G>C (p.R235P)LP10.8%
 AR119F-FaTRIONM_007118c.4505G>A (p.R1502Q)LP23.1%
 XL120F-FaCOL4A5NM_000495c.2365A>C (p.T789P)VOUS67.8%
  1. F female, M male, PGM paternal grandmother, Mo Mother, Fa Father, Path pathogenic, LP likely pathogenic, AAF alternate allele fraction
  2. Bolded genes showed up more than one time. *AAF of this case were estimated by exome sequencing, the rest cases without * were performed with PCR-based amplicon-NGS