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 |
|
|
rs1556135477
|
1.000 |
0.200 |
X |
22219089 |
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 |
|
|
rs1556138407
|
1.000 |
0.200 |
X |
22221617 |
stop gained |
-/AATA
|
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 |
|
|
rs1556138590
|
1.000 |
0.200 |
X |
22221675 |
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 |
|
|
rs1556138742
|
1.000 |
0.200 |
X |
22221725 |
frameshift variant |
-/AAAG
|
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 |
|
|
rs1556138769
|
1.000 |
0.200 |
X |
22221744 |
splice donor 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 |
|
|
rs1556148392
|
1.000 |
0.200 |
X |
22226451 |
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 |
|
|
rs1556148532
|
1.000 |
0.200 |
X |
22226479 |
missense 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 |
|
|
rs1556151004
|
1.000 |
0.200 |
X |
22227498 |
splice region variant |
TCT/-
|
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 |
|
|
rs1556151071
|
1.000 |
0.200 |
X |
22227512 |
stop gained |
C/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 |
|
|
rs1556151137
|
1.000 |
0.200 |
X |
22227526 |
stop gained |
-/TGAC
|
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 |
|
|
rs1556151545
|
1.000 |
0.200 |
X |
22227585 |
stop gained |
C/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 |
|
|
rs1556201034
|
1.000 |
0.200 |
X |
22245354 |
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 |
|
|
rs1556201217
|
1.000 |
0.200 |
X |
22245412 |
splice region variant |
A/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 |
|
|
rs1556205815
|
1.000 |
0.200 |
X |
22247849 |
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 |
|
|
rs1556206093
|
1.000 |
0.200 |
X |
22247899 |
frameshift variant |
-/TCCACCCAATTCCACGATG
|
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 |
|
|
rs1556206335
|
1.000 |
0.200 |
X |
22247942 |
stop lost |
CGACTCTGGTAGCT/-
|
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 |
|
|
rs193922456
|
1.000 |
0.200 |
X |
22226492 |
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 |
|
|
rs193922457
|
1.000 |
0.200 |
X |
22227540 |
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 |
|
|
rs748792378
|
1.000 |
0.200 |
X |
22226495 |
missense variant |
G/A;C
|
snv
|
3.8E-05
|
6.8E-05
|
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 |
|
|
rs760870713
|
1.000 |
0.200 |
X |
22212958 |
missense variant |
G/A;C
|
snv
|
5.5E-06
|
|
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 |
|
|
rs772130004
|
1.000 |
0.200 |
X |
22219098 |
missense variant |
A/G;T
|
snv
|
5.5E-06
|
|
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 |
|
|