Table 2 Variants of TBX6 with allele frequencies
From: TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia
Varianta | rs numberb | Location in TBX6 | Genotype of patientsc | Genotype of controlsc |
|---|---|---|---|---|
Predicted change | N=112 | N=200 | ||
g.30102391G>A | rs112565029 | intron 2 | CC: 107 (95.5%) | CC: 187 (93.5%) |
c.118+6C>T | CT: 5 (4.5%) | CT: 13 (6.5%) | ||
TT: 0 (0%) | TT: 0 (0%) | |||
g.30100402G>A | rs147485102 | exon 4 | CC: 111 (99.1%) | CC: 198 (99%) |
p.Ser161= | CT: 1 (0.9%) | CT: 2 (1%) | ||
TT: 0 (0%) | TT: 0 (0%) | |||
g.30100401C>T | rs56098093 | exon 4 | GG: 97 (86.6%) | GG: 192 (96%) |
p.Gly162Ser | GA: 12 (10.7%) | GA: 8 (4%) | ||
AA: 3 (2.7%) | AA: 0 (0%) | |||
g.30100162 T>A | - | intron 4 | AA: 11 (98.2%) | AA: 200 (100%) |
c.622-2A>T | AT: 2 (1.8%) | AT: 0 (0%) | ||
TT: 0 (0%) | TT: 0 (0%) | |||
g.30099890C>T | rs201231713 | exon 6 | GG: 101 (90.2%) | GG: 198 (99%) |
p.Arg272Gln | GA: 9 (8.0%) | GA: 2 (1%) | ||
AA: 2 (1.8%) | AA: 0 (0%) | |||
g.30098022G>A | rs200310768 | intron 7 | CC: 109 (97.3%) | CC: 194 (97%) |
c.914-6C>T | CT: 3 (2.7%) | CT: 6 (3%) | ||
TT: 0 (0%) | TT: 0 (0%) | |||
g.30097630C>T | rs2289292 | exon 9 | GG: 32 (28.6%) | GG: 67 (33.5%) |
p.Pro409= | GA: 55 (49.1%) | GA: 95 (47.5%) | ||
AA: 25 (22.3%) | AA: 38 (19%) |