Sequence variants in CDA III patient detected by targeted resequencing
| Gene . | Nucleotide change . | Mutation form . | Amino acid change . | dbSNP . | SIFT . | PolyPhen . | MAF . |
|---|---|---|---|---|---|---|---|
| KIF23 | c.2747C>G | Heterozygous | p.916P>R | New variant | Not tolerated | Deleterious | |
| MYO9A | c.4892T>A | Heterozygous | p.1631N>I | rs80283650 | Not tolerated | Possibly damaging | A = 0.011/24 |
| TLE3 | c.615G>C | Heterozygous | p.205S>S | rs17759219 | Not predictable | Not predictable | NA |
| TLE3 | IVS297+3T>CT | Heterozygous | rs2291986 | Not predictable | Not predictable | C = 0.228/497 | |
| THAP10 | c.117A>G | Homozygous | p.39G>G | rs2955035 | Not predictable | Not predictable | A = 0.486/1061 |
| LRRC49 | c.1061_1063delAAC | Homozygous | p.Q354del | rs56720495 | Not predictable | Not predictable | NA |
| GRAMD2 | IVS134+23A>C | Homozygous | rs11072348 | Not predictable | Not predictable | A = 0.05/109 | |
| HEXA | c.1306T>C | Homozygous | p.436I>V | rs1800431 | Tolerated | Benign | T = 0.101/220 |
| ADPGK | c.551T>C | Homozygous | p.184K>R | rs8024644 | Tolerated | Possibly damaging | C = 0.195/426 |
| ADPGK | c.546A>G | Homozygous | p.182G>G | rs8023358 | Not predictable | Not predictable | G = 0.184/402 |
| Gene . | Nucleotide change . | Mutation form . | Amino acid change . | dbSNP . | SIFT . | PolyPhen . | MAF . |
|---|---|---|---|---|---|---|---|
| KIF23 | c.2747C>G | Heterozygous | p.916P>R | New variant | Not tolerated | Deleterious | |
| MYO9A | c.4892T>A | Heterozygous | p.1631N>I | rs80283650 | Not tolerated | Possibly damaging | A = 0.011/24 |
| TLE3 | c.615G>C | Heterozygous | p.205S>S | rs17759219 | Not predictable | Not predictable | NA |
| TLE3 | IVS297+3T>CT | Heterozygous | rs2291986 | Not predictable | Not predictable | C = 0.228/497 | |
| THAP10 | c.117A>G | Homozygous | p.39G>G | rs2955035 | Not predictable | Not predictable | A = 0.486/1061 |
| LRRC49 | c.1061_1063delAAC | Homozygous | p.Q354del | rs56720495 | Not predictable | Not predictable | NA |
| GRAMD2 | IVS134+23A>C | Homozygous | rs11072348 | Not predictable | Not predictable | A = 0.05/109 | |
| HEXA | c.1306T>C | Homozygous | p.436I>V | rs1800431 | Tolerated | Benign | T = 0.101/220 |
| ADPGK | c.551T>C | Homozygous | p.184K>R | rs8024644 | Tolerated | Possibly damaging | C = 0.195/426 |
| ADPGK | c.546A>G | Homozygous | p.182G>G | rs8023358 | Not predictable | Not predictable | G = 0.184/402 |
dbSNP, Single Nucleotide Polymorphism Database; MAF, minor allele frequency (established in 1000 Genome project); NA, not available; PolyPhen, Polymorphism Phenotyping; SIFT, Sorting Intolerant from Tolerant.