Gene | Nucleotide change | Amino acid change | Patient ID | Diagnosis | Scores of SIFT/PolyPhen/MutationTaster | SIFT/PolyPhen/MutationTaster | ExAC/1 KG (frequency) | Patients (n = 106) | Internal database | ClinVar |
---|---|---|---|---|---|---|---|---|---|---|
JAG1 | c. 1511A>G | N504S | B151 | TOF/PFO | 0.04/0.07/0.1 | D/B/D | 0.00004/0 | 1 | 2 | Likely pathogenic |
c. 3038A>T | H1013L | B393* | TOF | 0.02/0.601/1 | D/P/D | 0.0001/0 | 1 | 0 | ||
c. 2906T>C | M969T | B294* | TOF | 0.042/0.001/1 | T/B/D | 0/0 | 1 | 0 | ||
c. 806C>G | P269R | B431 | TOF/ASD | 0/1/1 | D/D/D | 0/0 | 1 | 0 | ||
GATA4 | c. 1220C>A | P407Q | B445,B548* | TOF/PFO | 0.05/0.145/1 | D/B/D | 0.0006/0.0012 | 2 | 1 | Pathogenic |
c. 1138G>A | V380 M | B445,B548* | TOF/PFO | 0.49/0.002/0.002 | T/B/N | 0.0063/0.0156 | 2 | 2 | ||
GATA5 | c. 943T>A | S315T | B314 | TOF/PFO | 0.69/0.006/0 | T/B/N | 0/0 | 1 | 0 | |
c. 274G>T | A92S | B294* | TOF | 0.83/0.097/0.001 | T/B/N | 0/0 | 1 | 0 | ||
GATA6 | c. 331G>A | D111 N | B413 | TOF | 0.19/0.069/1 | T/B/D | 0/0 | 1 | 0 | |
c. 972C>G | H324Q | B393* | TOF | 0.3/0.846/0.026 | T/P/N | 0/0 | 1 | 0 | ||
ZFPM2 | c. 3442G>A | E1148 K | B430 | TOF/PFO | 0/0.985/1 | D/D/D | 0/0 | 1 | 0 | |
c. 3014A>G | E1005G | B546 | TOF | 0.2/0.073/1 | T/B/D | 0.0001/0.0002 | 1 | 0 | ||
TBX2 | c. 2139dupG | Frameshift | B326 | TOF/AVSD | ././. | ././. | 0/0 | 1 | 0 | |
TBX5 | c. 409G>T | V137L | A1114 | TOF/PDA/PFO | 0.02/0.772/1 | D/P/D | 0/0 | 1 | 0 | |
CITED2 | c.-1A>T | Splice | B303 | TOF/PAA | ././1 | ././D | 0/0 | 1 | 0 |