|
NM_001304569.2(PAX2):c.25+31A>G
|
rs4919486
|
0.79471
|
|
NM_000278.5(PAX2):c.909A>C (p.Pro303=)
|
rs1800898
|
0.40586
|
|
NM_000278.5(PAX2):c.43+43C>A
|
rs4405241
|
0.37380
|
|
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)
|
rs767995614
|
0.00005
|
|
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr)
|
rs1589910427
|
|
|
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)
|
rs759356936
|
|
|
NM_000278.5(PAX2):c.154T>C (p.Cys52Arg)
|
|
|
|
NM_000278.5(PAX2):c.157G>A (p.Asp53Asn)
|
|
|
|
NM_000278.5(PAX2):c.166C>T (p.Arg56Trp)
|
|
|
|
NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)
|
rs587777708
|
|
|
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp)
|
rs2133833948
|
|
|
NM_000278.5(PAX2):c.1A>G (p.Met1Val)
|
rs767150408
|
|
|
NM_000278.5(PAX2):c.212+1G>T
|
|
|
|
NM_000278.5(PAX2):c.212G>T (p.Arg71Met)
|
|
|
|
NM_000278.5(PAX2):c.213-8C>A
|
|
|
|
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)
|
rs79555199
|
|
|
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln)
|
rs1554856032
|
|
|
NM_000278.5(PAX2):c.263C>A (p.Pro88His)
|
rs1845410479
|
|
|
NM_000278.5(PAX2):c.263C>G (p.Pro88Arg)
|
|
|
|
NM_000278.5(PAX2):c.263C>T (p.Pro88Leu)
|
rs1845410479
|
|
|
NM_000278.5(PAX2):c.272C>T (p.Ala91Val)
|
rs1589813617
|
|
|
NM_000278.5(PAX2):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000278.5(PAX2):c.358dup (p.Ala120fs)
|
|
|
|
NM_000278.5(PAX2):c.383_384del (p.Thr128fs)
|
|
|
|
NM_000278.5(PAX2):c.393C>G (p.Ser131Arg)
|
|
|
|
NM_000278.5(PAX2):c.43+10G>C
|
rs4472867
|
|
|
NM_000278.5(PAX2):c.43+1G>T
|
|
|
|
NM_000278.5(PAX2):c.43+5G>A
|
rs878853000
|
|
|
NM_000278.5(PAX2):c.565G>A (p.Gly189Arg)
|
rs1131692055
|
|
|
NM_000278.5(PAX2):c.574G>C (p.Gly192Arg)
|
rs1589848170
|
|
|
NM_000278.5(PAX2):c.616+5649A>C
|
|
|
|
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)
|
rs76492282
|
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.791del (p.Gln264fs)
|
rs2133950639
|
|
|
NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)
|
|
|
|
NM_000278.5(PAX2):c.869del (p.Pro290fs)
|
rs2133956351
|
|
|
NM_000278.5(PAX2):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_000278.5(PAX2):c.959dup (p.His321fs)
|
|
|