Variant (Ref/Obs) | Gene | Coordinate (hg19) | Pedigree structure | Tested affecteds in pedigree | Affecteds with variant | Coding change | ESP6500_ALL |
---|---|---|---|---|---|---|---|
G/A | RAB11FIP5 | chr2:73302656 | 2-Generation | 3 | 3 | P652L | Â |
C/G | AUP1 | chr2:74756328 | Extended | 5 | 1 | R90S | Â |
T/C | SCN3A | chr2:165946964 | Extended | 6 | 1 | E1851G | Â |
T/C | ATP11B | chr3:182583394 | Extended | 9 | 2 | S451P | Â |
A/G | KLHL6 | chr3:183226296 | 2-Generation | 5 | 4 | F154L, splicing | Â |
C/T | AKAP9 | chr7:91736684 | Extended | 7 | 1 | R3832C | 0.000154 |
G/C | PDK4 | chr7:95215047 | 2-Generation | 6 | 3 | S381X | Â |
C/G | RELN | chr7:103214555 | Extended | 7 | 1 | D1499H | 0.000231 |
G/A | DCAF11 | chr14:24590630 | 2-Generation | 3 | 2 | G435R | Â |
G/A | RNF31 | chr14:24617687 | Extended | 9 | 1 | splicing | Â |
G/C | IRF9 | chr14:24634003 | Extended | 9 | 1 | R277T | Â |
G/A | SDR39U1 | chr14:24909513 | 2-Generation | 6 | 2 | P220S | Â |
T/A | PRKD1 | chr14:30095731 | 2-Generation | 3 | 2 | D586V | Â |
C/T | SEC23A | chr14:39545251 | 2-Generation | 3 | 1 | G292D | Â |
G/A | ITPK1 | chr14:93418316 | 2-Generation | 5 | 2 | P238L | Â |
G/A | CCDC85C | chr14:99988547 | Extended | 9 | 1 | R300W | Â |
A/G | C14orf2 | chr14:104381450 | 2-Generation | 6 | 5 | I26T | Â |
G/T | TRPM1 | chr15:31329966 | Extended | 5 | 1 | T857K | Â |
T/C | FMN1 | chr15:33359761 | Extended | 9 | 3 | R109G | Â |
G/T | PGBD4 | chr15:34395847 | Extended | 9 | 4 | G372V | 0.000231 |
C/T | JMJD7 | chr15:42129054 | Extended | 9 | 4 | R260C | 0.00068 |
C/T | CASC4 | chr15:44620915 | Extended | 5 | 1 | R139X | Â |
G/C | SPATA5L1 | chr15:45695534 | 2-Generation | 5 | 3 | D303H | Â |
C/G | PYGO1 | chr15:55839207 | Extended | 7 | 1 | G92R | Â |
C/G | PRTG | chr15:55916638 | Extended | 9 | 2 | A999P | Â |
G/A | NUDT7 | chr16:77756514 | Extended | 9 | 4 | R12K, splicing | Â |
G/A | DEFB124 | chr20:30053379 | Extended | 7 | 4 | P49L | 0.000154 |
A/G | EPB41L1 | chr20:34809850 | Extended | 9 | 1 | D733G | Â |