NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
|
|
|
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
|
|
|
NM_004586.3(RPS6KA3):c.1000-2A>G
|
rs2148664125
|
|
NM_004586.3(RPS6KA3):c.1022del (p.His341fs)
|
rs2148664069
|
|
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs)
|
rs2148662359
|
|
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)
|
rs1160828151
|
|
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)
|
rs2148653302
|
|
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del)
|
rs1603420690
|
|
NM_004586.3(RPS6KA3):c.1443+6T>C
|
rs2067519822
|
|
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
|
|
|
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)
|
rs2148650076
|
|
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)
|
rs2067475470
|
|
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)
|
rs1555927532
|
|
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg)
|
rs2067342745
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
NM_004586.3(RPS6KA3):c.1959+2dup
|
rs1057518853
|
|
NM_004586.3(RPS6KA3):c.1960-6_1971del
|
|
|
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)
|
rs1555924704
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter)
|
rs122454128
|
|
NM_004586.3(RPS6KA3):c.2101-2A>G
|
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs)
|
rs1603417213
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs)
|
rs1603417191
|
|
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)
|
|
|
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val)
|
rs122454124
|
|
NM_004586.3(RPS6KA3):c.243+1G>A
|
rs1603428228
|
|
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe)
|
rs122454126
|
|
NM_004586.3(RPS6KA3):c.326-11A>G
|
rs1555943503
|
|
NM_004586.3(RPS6KA3):c.326-1G>C
|
rs587776755
|
|
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)
|
rs1555943492
|
|
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)
|
rs1555943484
|
|
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)
|
rs1555943479
|
|
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)
|
rs122454127
|
|
NM_004586.3(RPS6KA3):c.406+1G>T
|
|
|
NM_004586.3(RPS6KA3):c.407-1G>T
|
|
|
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter)
|
rs2148701884
|
|
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)
|
rs2148701829
|
|
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)
|
rs1603426295
|
|
NM_004586.3(RPS6KA3):c.486+3A>G
|
rs1603426293
|
|
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys)
|
rs122454130
|
|
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)
|
rs1325953089
|
|
NM_004586.3(RPS6KA3):c.632-1G>C
|
rs398124177
|
|
NM_004586.3(RPS6KA3):c.632-2A>C
|
rs2148686736
|
|
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)
|
rs1555939456
|
|
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala)
|
rs122454125
|
|
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)
|
rs1603425338
|
|
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp)
|
rs1555939335
|
|
NM_004586.3(RPS6KA3):c.774+1G>C
|
rs1555939331
|
|
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser)
|
rs122454131
|
|
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
|
|
|
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del)
|
rs1555933769
|
|
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
|
|
|
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter)
|
rs1603422403
|
|
RPS6KA3, 187-BP DEL, NT406
|
|
|