Table 2.
Haplotype analysis in five probands with TTN:c.12478del (P1.1-P5.1) and one first-degree relative (P4.2)
| Marker ID | P1.1 | P2.1 | P3.1 | P4.1 | P4.2 | P5.1 | HAPLOTYPE |
|---|---|---|---|---|---|---|---|
| rs4894127 | G G | G A | A A | G G | G A | G A | / |
| rs895838 | G G | G G | G G | C G | G G | G G | G |
| rs4893895 | T T | T A | T A | T T | T T | T T | T |
| rs1839152 | A A | A G | A G | A A | A A | A G | A |
| rs2885627 | A G | A A | A G | A A | A A | A G | A |
| rs12623637 | A A | G A | A A | A A | A A | A A | A |
| rs1398967 | A G | A G | A G | A G | A A | A A | A |
| rs10930768 | C A | C A | C A | C A | A A | A A | A |
| rs13422461 | C T | C T | C T | C T | T T | T T | T |
| rs2885984 | G A | A A | A A | G A | A A | G A | A |
| rs62173650 | G G | G G | T G | G G | G G | G G | G |
| 21xTG | 20|24 | 20|24 | 20|24 | 20|27 | 20|24 | 20|27 | 20 |
| rs6433659 | A G | A G | A A | A A | A G | A A | A |
| rs7423941 | A A | A A | A A | A G | A A | A G | A |
| 16xATT | 13|16 | 13|16 | 13|16 | 13|14 | 13|13 | 13|11 | 13 |
| 22xAC | 24|20 | 24|17 | 24|20 | 24|18 | 24|24 | 24|19 | 24 |
| rs2043547 | T G | G G | T G | G G | G G | T G | G |
| rs6726222 | T C | T T | T C | T T | T T | T C | T |
| rs334096 | G A | G A | G A | G A | A A | A A | A |
| rs334122 | G A | G A | G A | G A | G G | G G | G |
| rs334024 | G A | G A | G A | A A | A A | A A | A |
| rs334624 | C C | T C | T C | C C | C C | C C | C |
| variant | T delT | T delT | T delT | T delT | T delT | T delT | T delT |
| rs4894050 | A G | G G | A G | G G | G G | G G | G |
| rs6433735 | C T | C C | C T | C C | C C | C C | C |
| rs2046775 | A C | A A | A A | A C | C C | A A | / |
PX.1 (X = family numerical identifier), proband; PX.X, relative of a family X. SNP markers are reported as “allele1” “allele2” identified at the locus. Di- and tri-nucleotide repeat markers are reported as number of repeats per “allele1” “allele2” observed at the locus