Table 3.
MRKH patients with two or more variants
| Patient | Gene | Chromosome | Exonic change | Protein change | Reference transcript | CADD score | gnomAD allelic frequency | gnomAD variant ID |
|---|---|---|---|---|---|---|---|---|
| MRKH 212 | AMH | 19 | missense; exon 5 c.A974G | p.Q325R | NM_000479 | 22.8 | 5.54E–03 | 19–2251247-A-G |
| HOXA10 | 7 | missense; exon 1 c.T188C |
p.V63A | NM_018951 | 20.2 | 0 | − | |
| MRKH468 | AMH | 19 | missense; exon 2 c.C451T | p.P151S | NM_000479 | 23.0 | 4.50E–05 | 19–2250374-C-T |
| CRTAP | 3 | missense; exon 2 c.C514G | p.L172V | NM_006371 | 23.9 | 2.14E–05 | 3–33161878-C-G | |
| MRKH144 | AMH | 19 | missense; exon 1 c.A236G | p.Y79C | NM_000479 | 23.3 | 0 | − |
| MEFV | 16 | missense; exon 9 c.G1777A | p.A593T | NM_001198536 | 21.6 | 3.98E–06 | 16–3293875-C-T | |
| MEFV | 16 | missense; exon 8 c.G1319A | p.R440H | NM_001198536 | 21.6 | 0 | − | |
| MRKH225 | CFTR | 7 | missense; exon 6 c.A650G | p.E217G | NM_000492 | 24.5 | 4.58E–03 | 7–117175372-A-G |
| SHOX | X | missense; exon 6 c.C698T | p.A233V | NM_000451 | 29.0 | 0 | − | |
| ZNF263 | 16 | missense; exon 4 c.G653T | p.S218I | NM_005741 | 24.9 | 3.93E–04 | 16–3336033-G-T | |
| MRKH148 | CNOT1 | 3 | missense; exon 12 c.C1634T | p.A545V | NM_001256742 | 23.7 | 4.60E–05 | 3–32776408-C-T |
| WNT4 | 1 | missense; exon 5 c.C739T | p.R247C | NM_030761 | 32 | 3.18E–05 | 1–22446860-G-A | |
| MRKH604 | MEFV | 16 | stop-gained; exon 1 c.C202T | p.Q68X | NM_001198536 | 29.3 | 0 | − |
| WNT4 | 1 | missense; exon 5 c.C829A | p.P277T | NM_030761 | 26.4 | 1.42E–05 | 1–22446770-G-T | |
| MRKH214 | LAMC1 | 1 | missense; exon 2 c.C713T | p.P238L | NM_002293 | 26.9 | 3.18E–05 | 1–183072757-C-T |
| MMP14 | 14 | missense; exon 8 c.G1237A | p.D413N | NM_004995 | 28.5 | 1.59E–05 | 14–23313925-G-A | |
| ZNF205 | 16 | missense; exon 7 c.C925T | p.R309W | NM_001042428 | 23.1 | 3.28E–05 | 16–3169586-C-T | |
| MRKH215 | LRP10 | 14 | missense; exon 3 c.C142T | p.R48W | NM_001329226 | 23.4 | 1.09E–03 | 14–23342582-C-T |
| SHOX | X | missense; exon 5 c.G547A | p.V183I | NM_000451 | 22.8 | 0 | − | |
| MRKH222 | LRP10 | 14 | missense; exon 5 c.C691T | p.R231W | NM_001329226 | 33.0 | 2.35E–03 | 14–23344848-C-T |
| LRP10 | 14 | missense; exon 7 c.G1685A | p.R562H | NM_014045 | 26.6 | 7.02E–03 | 14–23346279-G-A | |
| MRKH589 | RARA | 17 | missense; exon 3 c.A320G | p.Q107R | NM_001145302 | 23.5 | 0 | − |
| RARA | 17 | missense; exon 5 c.A611G | p.Q204R | NM_000964 | 24 | 0 | − | |
| MRKH608 | TBX6 | 16 | missense; exon 4 c.G484A | p.G162S | NM_004608 | 33.0 | 4.54E–03 | 16–30100401-C-T |
| TBX6 | 16 | missense; exon 6 c.G815A | p.R272Q | NM_004608 | 34.0 | 9.61E–04 | 16–30099890-C-T | |
| MRKH235 | TRIM71 | 3 | missense; exon 2 c.G965A | p.R322Q | NM_001039111 | 25.0 | 5.35E–05 | 3–32915422-G-A |
| WNT9B | 17 | missense; exon 3 c.G454A | p.E152K | NM_001320458 | 26.4 | 5.38E–04 | 17–44952586-G-A |
Three patients had two variants in the same gene including MRKH222 in the LRP10 gene, MRKH589 in the RARA gene and MRKH608 in TBX6. In addition, MRKH144 has two MEFV variants and one AMH variant