Table 2.
Genomic position and allelesa | Gene ID | Codon change | Amino acid consequence | SIFT prediction |
---|---|---|---|---|
Chr1:71831141G/A | NEGR1 | 503C>T | T168I | Damaging |
Chr1:149227247C/T | ANXA9 | 760C>T | R245C | Damaging |
Chr1:156702726C/A | OR10K1 | 751C>A | H251N | Damaging |
Chr1:220801358G/T | TAF1A | 1211C>A | A404D | Damaging |
Chr1:226621463T/G | OBSCN | 19592T>G | F6531C | Not scored |
Chr1:238137913G/A | CHRM3 | 539G>A | R180Q | Damaging |
Chr2:49235000G/A | FSHR | 61C>T | R21W | Tolerated |
Chr2:165735207G/C | SCN3A | 362C>G | A121G | Damaging |
Chr2:178905886C/T | OSBPL6 | 529C>T | R177X | - |
Chr3:109658364C/T | MYH15 | 2137G>A | G713R | Damaging |
Chr3:129258301T/G | SEC61A1 | 280T>G | L94V | Damaging |
Chr4:6670038G/A | MAN2B2 | 2732G>A | R911H | Tolerated |
Chr6:28336272A/G | NKAPL | 1144A>G | S382G | Damaging |
Chr7:2599270C/T | IQCE | 1333C>T | R445X | - |
Chr7:43813258G/A | BLVRA | 790G>A | G264S | Tolerated |
Chr8:76091857G/T | CRISPLD1 | 950G>T | C317F | Damaging |
Chr9:33301117G/A | NFX1 | 1240G>A | G414R | Damaging |
Chr10:17777173T/C | STAM | 364T>C | Y122H | Damaging |
Chr10:99328071C/T | ANKRD2 | 274C>T | R92W | Damaging |
Chr11:6368506-6368518del | SMPD1 | 102-114del | L35WfsX72 | - |
Chr11:92170718A/T | FAT3 | 4894A>T | M1632L | Not scored |
Chr11:116661033A/T | RNF214 | 2068A>T | T690S | Not scored |
Chr12:1854754C/T | CACNA2D4 | 1730G>A | G577E | Damaging |
Chr12:5902149C/A | ANO2 | 93G>T | Q31H | Damaging |
Chr12:25289551C/A | KRAS | 35G>T | G12V | Damaging |
Chr14:19598288-19598307del | OR4L1 | 245-264del | I82TfsX104 | - |
Chr15:32142462G/A | CHRM5 | 252G>A | M84I | Damaging |
Chr15:83002258G/C | NMB | 130C>G | H44D | Tolerated |
Chr17:11543819G/A | DNAH9 | 4919G>A | R1640Q | Tolerated |
Chr17:41416912C/G | MAPT | 905C>G | T302R | Damaging |
Chr18:42815392C/T | TCEB3B | 242G>A | R81Q | Tolerated |
Chr18:46845916C/T | SMAD4 | 1081C>T | R361C | Damaging |
Chr20:25405049-25405055del | NINL | 2872-2878del | W958HfsX960 | - |
aReference allele/mutated allele.