NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)
|
rs1563630587
|
0.00001
|
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)
|
rs200164773
|
0.00001
|
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1
|
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
NM_000503.6(EYA1):c.1051-5T>G
|
rs2128904621
|
|
NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr)
|
rs2128904607
|
|
NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter)
|
rs2128854635
|
|
NM_000503.6(EYA1):c.1195dup (p.Leu399fs)
|
rs1585820240
|
|
NM_000503.6(EYA1):c.1199+2T>A
|
rs2128854556
|
|
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
|
|
|
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)
|
rs121909196
|
|
NM_000503.6(EYA1):c.1361-1G>A
|
rs397517917
|
|
NM_000503.6(EYA1):c.1361-2A>G
|
rs2128851194
|
|
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs)
|
rs2128851100
|
|
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)
|
rs1475718221
|
|
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
|
|
|
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter)
|
rs139717960
|
|
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)
|
rs2128850745
|
|
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met)
|
rs1809062554
|
|
NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)
|
|
|
NM_000503.6(EYA1):c.1579T>A (p.Tyr527Asn)
|
rs397517918
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
NM_000503.6(EYA1):c.1597+1G>T
|
|
|
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)
|
rs1060499603
|
|
NM_000503.6(EYA1):c.1650_1651dup (p.Tyr551fs)
|
rs2128835296
|
|
NM_000503.6(EYA1):c.1698+2T>C
|
|
|
NM_000503.6(EYA1):c.1714dup (p.Trp572fs)
|
rs1064795739
|
|
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)
|
rs1585717154
|
|
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
|
rs397517920
|
|
NM_000503.6(EYA1):c.202+1G>A
|
rs753245290
|
|
NM_000503.6(EYA1):c.202_203insTTAC (p.Ala68fs)
|
|
|
NM_000503.6(EYA1):c.419-2A>G
|
|
|
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
|
|
|
NM_000503.6(EYA1):c.557-1G>A
|
|
|
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)
|
rs2129000663
|
|
NM_000503.6(EYA1):c.639+3A>C
|
|
|
NM_000503.6(EYA1):c.640-15_698del
|
rs1554541834
|
|
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn)
|
rs1563422500
|
|
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs)
|
rs2128999992
|
|
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)
|
rs1586244371
|
|
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter)
|
rs2128999627
|
|
NM_000503.6(EYA1):c.826+1G>A
|
|
|
NM_000503.6(EYA1):c.966+1G>C
|
rs2128951565
|
|
NM_000503.6(EYA1):c.966+5G>C
|
rs606231357
|
|
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)
|
rs2128948223
|
|