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.1091G>A (p.Ser364Asn)
|
rs138490772
|
0.00007
|
NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)
|
rs767995614
|
0.00005
|
NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro)
|
rs201021899
|
0.00003
|
NM_000278.5(PAX2):c.220G>A (p.Glu74Lys)
|
rs754146050
|
0.00003
|
NM_000278.5(PAX2):c.1021+233A>T
|
rs606231415
|
0.00001
|
NM_000278.5(PAX2):c.757G>A (p.Val253Ile)
|
rs770703982
|
0.00001
|
NM_000278.5(PAX2):c.*7C>A
|
rs1848626159
|
|
NM_000278.5(PAX2):c.1021+167C>T
|
|
|
NM_000278.5(PAX2):c.1109-2A>G
|
|
|
NM_000278.5(PAX2):c.125T>C (p.Val42Ala)
|
|
|
NM_000278.5(PAX2):c.131_152del (p.Leu44fs)
|
rs76675173
|
|
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)
|
rs759356936
|
|
NM_000278.5(PAX2):c.188G>A (p.Gly63Asp)
|
|
|
NM_000278.5(PAX2):c.211A>G (p.Arg71Gly)
|
rs2133834027
|
|
NM_000278.5(PAX2):c.220del (p.Glu74fs)
|
rs1589813539
|
|
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)
|
rs387906530
|
|
NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)
|
rs79555199
|
|
NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)
|
rs79555199
|
|
NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)
|
rs922533851
|
|
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)
|
rs1845412705
|
|
NM_000278.5(PAX2):c.409A>T (p.Arg137Ter)
|
|
|
NM_000278.5(PAX2):c.43+10G>C
|
rs4472867
|
|
NM_000278.5(PAX2):c.493_495delinsTCTTCCCTGA (p.Ile165fs)
|
rs1846531969
|
|
NM_000278.5(PAX2):c.497-1G>A
|
rs1846609262
|
|
NM_000278.5(PAX2):c.561del (p.Asn188fs)
|
rs77777862
|
|
NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)
|
rs76492282
|
|
NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)
|
rs75399846
|
|
NM_000278.5(PAX2):c.70G>T (p.Gly24Trp)
|
rs1845366198
|
|
NM_000278.5(PAX2):c.756_792+4del
|
rs2133950547
|
|
NM_000278.5(PAX2):c.75_76dup (p.Val26fs)
|
rs75462234
|
|
NM_000278.5(PAX2):c.76del (p.Val26fs)
|
rs75462234
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000278.5(PAX2):c.793-1G>A
|
|
|
NM_000278.5(PAX2):c.841_845del (p.Lys281fs)
|
rs2133956255
|
|
NM_000278.5(PAX2):c.871G>T (p.Glu291Ter)
|
|
|
NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)
|
rs78122364
|
|
PAX2, 6-BP DEL
|
|
|