Chr | Position | Ref | Sample | Type | Cytoband | Gene | Translation impact | dbSNP ID | 1000 genomes | CG public genomes |
---|---|---|---|---|---|---|---|---|---|---|
1 | 117142868 | CA | TG | Sub | 1p13.1 | IGSF3 | In-frame | Â | Â | Â |
4 | 85996 | Â | C | Ins | 4p16.3 | ZNF595 | Frame shift | Â | Â | Â |
4 | 86004 | A | G | SNV | 4p16.3 | ZNF595 | Missense | 112290390 | Â | Â |
4 | 86022 | CAG | GAC | Sub | 4p16.3 | ZNF595 | In-frame | 386670355 | Â | Â |
4 | 86043 | T | C | SNV | 4p16.3 | ZNF595 | Synonymous | 377364445 | Â | Â |
7 | 100549935 | T | G | SNV | 7q22.1 | MUC3A | Missense | 73714229 | Â | Â |
7 | 100549942 | T | C | SNV | 7q22.1 | MUC3A | Missense | 73714230 | Â | Â |
7 | 100552452 | T | C | SNV | 7q22.1 | MUC3A | Synonymous | 112050489 | Â | Â |
11 | 48367133 | C | A | SNV | 11p11.2 | OR4C45 | Missense | 79453749 | Â | Â |
12 | 40875389 | CCATCAGCTGGAGTGACAGTGACATCCGGA | Del | 12q12 | MUC19 | In-frame | Â | Â | Â | |
12 | 40880542 | C | T | SNV | 12q12 | MUC19 | Missense | 370502411 | Â | 14.81 |
12 | 40880545 | C | G | SNV | 12q12 | MUC19 | Missense | 199768257 | Â | 16.66 |
12 | 122359397 | Â | GAGGAGGAGGAGAAA | Ins | 12q24.31 | WDR66 | In-frame | 142042908 | Â | 67.59 |
13 | 25671607 | GA | AG | Sub | 13q12.13 | PABPC3 | In-frame | 386769143 | Â | Â |
13 | 46170723 | GATACTCTTCCTCCTCCA | Del | 13q14.13 | ERICH6B | In-frame | Â | Â | Â | |
17 | 74288565 | TGA | Â | Del | 17q25.1 | QRICH2 | In-frame | 35035566 | 46.96 | 20.37 |
22 | 29885594 | A | T | SNV | 22q12.2 | NEFH | Synonymous | 79235463 | Â | Â |
22 | 29885599 | AGGAAG | Â | Del | 22q12.2 | NEFH | In-frame | 149571560 | Â | Â |