NM_000503.6(EYA1):c.639+39T>G
|
rs3779747
|
0.39091
|
NM_000503.6(EYA1):c.1755T>C (p.His585=)
|
rs10103397
|
0.35033
|
NM_000503.6(EYA1):c.1699-23A>G
|
rs10090382
|
0.34966
|
NM_000503.6(EYA1):c.1476-21G>T
|
rs3735935
|
0.30839
|
NM_000503.6(EYA1):c.813A>G (p.Thr271=)
|
rs1445398
|
0.08547
|
NM_000503.6(EYA1):c.164C>T (p.Thr55Met)
|
rs201434219
|
0.00023
|
NM_000503.6(EYA1):c.671G>T (p.Gly224Val)
|
rs201509408
|
0.00006
|
NM_000503.6(EYA1):c.1455A>C (p.Ala485=)
|
rs200008207
|
0.00003
|
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)
|
rs754901033
|
0.00002
|
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)
|
rs121909199
|
0.00001
|
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)
|
rs772521196
|
0.00001
|
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser)
|
rs747476629
|
0.00001
|
NC_000008.11:g.(?_71244583)_(71244712_?)del
|
|
|
NC_000008.11:g.(?_71269720)_(71269843_?)del
|
|
|
NC_000008.11:g.(?_71269720)_(71271917_?)del
|
|
|
NG_011735.4:g.308479_308480insAlu308464_308481dup
|
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
NM_000503.6(EYA1):c.1051-5T>G
|
rs2128904621
|
|
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)
|
rs121909202
|
|
NM_000503.6(EYA1):c.1259del (p.Leu420fs)
|
rs1809266780
|
|
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)
|
rs121909196
|
|
NM_000503.6(EYA1):c.1325A>G (p.Lys442Arg)
|
rs2128853814
|
|
NM_000503.6(EYA1):c.1350delinsCC (p.Asn451fs)
|
|
|
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro)
|
rs121909200
|
|
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.1514T>G (p.Leu505Arg)
|
rs121909201
|
|
NM_000503.6(EYA1):c.1574A>T (p.Asn525Ile)
|
|
|
NM_000503.6(EYA1):c.1611T>A (p.Cys537Ter)
|
|
|
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs)
|
rs606231355
|
|
NM_000503.6(EYA1):c.1698+1G>T
|
rs530147851
|
|
NM_000503.6(EYA1):c.1719G>T (p.Arg573Ser)
|
|
|
NM_000503.6(EYA1):c.489dup (p.Leu164fs)
|
|
|
NM_000503.6(EYA1):c.520C>T (p.Gln174Ter)
|
|
|
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)
|
rs529483320
|
|
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter)
|
rs1563422304
|
|
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs)
|
rs1586244371
|
|
NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)
|
|
|
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter)
|
rs2128999627
|
|
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)
|
rs1816578250
|
|
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)
|
rs121909195
|
|
NM_000503.6(EYA1):c.929del (p.Asn310fs)
|
rs1816566795
|
|
NM_000503.6(EYA1):c.966+5G>A
|
rs606231357
|
|
NM_000503.6(EYA1):c.979T>C (p.Trp327Arg)
|
rs2128948223
|
|
NM_000503.6(EYA1):c.981G>A (p.Trp327Ter)
|
|
|
NM_000503.6(EYA1):c.988G>T (p.Asp330Tyr)
|
rs1586100993
|
|