rs1556023505
|
1.000 |
0.200 |
X |
22090472 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556023528
|
1.000 |
0.200 |
X |
22090502 |
splice region variant |
G/A;C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556024541
|
1.000 |
0.200 |
X |
22094082 |
stop gained |
G/T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556025314
|
1.000 |
0.200 |
X |
22097039 |
splice donor variant |
G/T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556025936
|
1.000 |
0.200 |
X |
22099003 |
splice acceptor variant |
CAG/TCA
|
mnv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556025968
|
1.000 |
0.200 |
X |
22099027 |
inframe deletion |
AAG/-
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556026027
|
1.000 |
0.200 |
X |
22099094 |
missense variant |
T/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556026033
|
1.000 |
0.200 |
X |
22099109 |
missense variant |
A/G
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556026042
|
1.000 |
0.200 |
X |
22099114 |
frameshift variant |
A/-
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556029499
|
1.000 |
0.200 |
X |
22111490 |
stop gained |
G/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556029516
|
1.000 |
0.200 |
X |
22111520 |
frameshift variant |
T/-
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556029519
|
1.000 |
0.200 |
X |
22111524 |
missense variant |
CA/AT
|
mnv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556030465
|
1.000 |
0.200 |
X |
22114500 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556030487
|
1.000 |
0.200 |
X |
22114553 |
frameshift variant |
A/-
|
del
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556030502
|
1.000 |
0.200 |
X |
22114581 |
stop gained |
G/T
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556036014
|
1.000 |
0.200 |
X |
22133522 |
splice acceptor variant |
G/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556070724
|
1.000 |
0.200 |
X |
22178271 |
splice acceptor variant |
A/G
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556070890
|
1.000 |
0.200 |
X |
22178313 |
missense variant |
A/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556071086
|
1.000 |
0.200 |
X |
22178349 |
frameshift variant |
G/-
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556071123
|
1.000 |
0.200 |
X |
22178358 |
frameshift variant |
-/T
|
ins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556071138
|
1.000 |
0.200 |
X |
22178360 |
frameshift variant |
-/C
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556128043
|
1.000 |
0.200 |
X |
22212906 |
frameshift variant |
TT/-
|
delins
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556128253
|
1.000 |
0.200 |
X |
22212960 |
splice donor variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556135242
|
1.000 |
0.200 |
X |
22219041 |
missense variant |
T/C
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1556135467
|
1.000 |
0.200 |
X |
22219088 |
missense variant |
G/A
|
snv
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|