NM_004484.4(GPC3):c.1500T>C (p.Asp500=)
|
rs2314298
|
0.06746
|
NM_004484.4(GPC3):c.1626A>G (p.Ala542=)
|
rs61754631
|
0.05751
|
NM_004484.4(GPC3):c.204G>A (p.Lys68=)
|
rs61754632
|
0.01163
|
NM_004484.4(GPC3):c.1285G>A (p.Val429Met)
|
rs11539789
|
0.00333
|
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)
|
rs375606908
|
0.00011
|
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys)
|
rs587778392
|
0.00006
|
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser)
|
rs780431445
|
0.00002
|
NM_004484.4(GPC3):c.1167-1G>A
|
rs2071074944
|
0.00001
|
NM_004484.4(GPC3):c.1296C>T (p.Tyr432=)
|
rs946461494
|
0.00001
|
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg)
|
rs765072095
|
0.00001
|
GRCh37/hg19 Xq26.2(chrX:132703748-132794615)
|
|
|
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
|
|
|
NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)
|
|
|
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
|
|
|
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
|
|
|
NM_004484.4(GPC3):c.-1G>C
|
rs2076564315
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
NM_004484.4(GPC3):c.1292+1G>T
|
rs869025182
|
|
NM_004484.4(GPC3):c.1293-10A>G
|
|
|
NM_004484.4(GPC3):c.1413+1G>C
|
rs2124401754
|
|
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala)
|
rs2069918325
|
|
NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter)
|
rs753210097
|
|
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)
|
rs2069289549
|
|
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)
|
rs2124257541
|
|
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg)
|
rs267606850
|
|
NM_004484.4(GPC3):c.1692del (p.Leu565fs)
|
rs886039908
|
|
NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)
|
|
|
NM_004484.4(GPC3):c.175+1G>T
|
rs886039489
|
|
NM_004484.4(GPC3):c.190del (p.Val64fs)
|
|
|
NM_004484.4(GPC3):c.194_206del (p.Cys65fs)
|
rs869025181
|
|
NM_004484.4(GPC3):c.271del (p.Gln91fs)
|
rs2124634791
|
|
NM_004484.4(GPC3):c.280del (p.Gln94fs)
|
|
|
NM_004484.4(GPC3):c.337+1G>A
|
rs869025183
|
|
NM_004484.4(GPC3):c.467T>A (p.Ile156Asn)
|
rs2124480768
|
|
NM_004484.4(GPC3):c.505G>T (p.Glu169Ter)
|
rs2071700502
|
|
NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)
|
|
|
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter)
|
rs104894855
|
|
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp)
|
rs1206002281
|
|
NM_004484.4(GPC3):c.886T>A (p.Trp296Arg)
|
rs104894854
|
|
NM_004484.4(GPC3):c.974C>A (p.Ser325Ter)
|
rs1569426054
|
|