Gene: COL4A5 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556411578
rs1556411578
COL4A5
4 X 108595507 coding sequence variant AAGGTGACA/- delins 0.700 0
dbSNP: rs1556463583
rs1556463583
COL4A5
2 X 108695350 frameshift variant -/A delins 0.700 0
dbSNP: rs1569497030
rs1569497030
COL4A5
2 1.000 X 108615026 splice donor variant T/G snv 0.700 0