rs121913123
|
0.882 |
0.360 |
1 |
241508643 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.6E-05
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
5 |
1994 |
2015 |
rs121913121
|
0.851 |
0.320 |
1 |
241513661 |
missense variant |
T/G
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
3 |
1994 |
2015 |
rs779707997
|
0.925 |
0.320 |
1 |
241511968 |
missense variant |
T/C;G
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs121913119
|
0.925 |
0.320 |
1 |
241504066 |
missense variant |
C/G
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1994 |
2015 |
rs863224015
|
1.000 |
0.160 |
1 |
241511983 |
missense variant |
T/C
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1994 |
2015 |
rs1060499629
|
1.000 |
0.160 |
1 |
241517172 |
splice donor variant |
CCACTTACTG/-
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499630
|
0.882 |
0.320 |
1 |
241513659 |
stop gained |
G/A
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499631
|
1.000 |
0.160 |
1 |
241512127 |
frameshift variant |
A/-
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499633
|
1.000 |
0.160 |
1 |
241512082 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499634
|
1.000 |
0.160 |
1 |
241511998 |
frameshift variant |
A/-
|
del
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499635
|
1.000 |
0.160 |
1 |
241508758 |
inframe deletion |
TGCTGT/-
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499636
|
1.000 |
0.160 |
1 |
241508610 |
missense variant |
A/C;G
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499637
|
1.000 |
0.160 |
1 |
241506099 |
frameshift variant |
A/-
|
del
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499638
|
1.000 |
0.160 |
1 |
241506087 |
missense variant |
C/G
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499641
|
0.925 |
0.320 |
1 |
241504109 |
frameshift variant |
A/-
|
del
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499642
|
0.925 |
0.320 |
1 |
241504087 |
stop gained |
C/A
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499643
|
1.000 |
0.160 |
1 |
241502561 |
missense variant |
T/A;C
|
snv
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499644
|
1.000 |
0.160 |
1 |
241502470 |
frameshift variant |
A/-
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1060499645
|
1.000 |
0.160 |
1 |
241497892 |
frameshift variant |
C/-
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1064792900
|
1.000 |
0.160 |
1 |
241508600 |
splice donor variant |
TACCTGCCCAAGAGTAAGTG/-
|
del
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121913120
|
0.925 |
0.320 |
1 |
241513680 |
stop gained |
G/A
|
snv
|
|
7.0E-06
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121913122
|
0.925 |
0.320 |
1 |
241504123 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1553340681
|
1.000 |
0.160 |
1 |
241500486 |
frameshift variant |
-/GTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGTTT
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1553341942
|
0.925 |
0.320 |
1 |
241517209 |
frameshift variant |
-/T
|
delins
|
|
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs200004220
|
0.925 |
0.320 |
1 |
241500572 |
missense variant |
A/G
|
snv
|
|
7.3E-06
|
Hereditary Leiomyomatosis and Renal Cell Cancer
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|