NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)
|
rs56218010
|
0.01619
|
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=)
|
rs114337467
|
0.00622
|
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)
|
rs139718656
|
0.00549
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
NM_004586.3(RPS6KA3):c.631+18G>A
|
rs182515508
|
0.00104
|
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=)
|
rs150848826
|
0.00100
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)
|
rs150107747
|
0.00073
|
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=)
|
rs766164918
|
0.00017
|
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=)
|
rs142680221
|
0.00005
|
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val)
|
rs148050184
|
0.00005
|
NM_004586.3(RPS6KA3):c.846-6A>G
|
rs375177835
|
0.00004
|
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=)
|
rs773807871
|
0.00003
|
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=)
|
rs750203223
|
0.00003
|
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=)
|
rs778140223
|
0.00002
|
NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu)
|
rs762253691
|
0.00002
|
NM_004586.3(RPS6KA3):c.1467G>A (p.Val489=)
|
rs1277225078
|
0.00002
|
NM_004586.3(RPS6KA3):c.1960-3C>T
|
rs1207197365
|
0.00001
|
NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly)
|
rs1365070717
|
0.00001
|
NM_004586.3(RPS6KA3):c.407-4T>G
|
rs1040089025
|
0.00001
|
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp)
|
rs1327104134
|
0.00001
|
NM_004586.3(RPS6KA3):c.631+9A>C
|
rs747820943
|
0.00001
|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
|
|
NC_000023.10:g.(?_20173516)_(20174387_?)del
|
|
|
NC_000023.10:g.(?_20173516)_(20195222_?)dup
|
|
|
NC_000023.10:g.(?_20173516)_(20252952_?)dup
|
|
|
NC_000023.10:g.(?_20204394)_(20206108_?)del
|
|
|
NC_000023.11:g.(?_20155378)_(20176518_?)dup
|
|
|
NM_004586.3(RPS6KA3):c.1000-10T>C
|
|
|
NM_004586.3(RPS6KA3):c.1000-10del
|
rs748680802
|
|
NM_004586.3(RPS6KA3):c.1000-18T>C
|
|
|
NM_004586.3(RPS6KA3):c.1000-19dup
|
rs748680802
|
|
NM_004586.3(RPS6KA3):c.1000-7C>T
|
rs1555933444
|
|
NM_004586.3(RPS6KA3):c.1000-8C>T
|
|
|
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)
|
rs2067699414
|
|
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
|
|
|
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
|
|
|
NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=)
|
|
|
NM_004586.3(RPS6KA3):c.1062A>G (p.Thr354=)
|
|
|
NM_004586.3(RPS6KA3):c.1103-10C>T
|
|
|
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)
|
rs2067670297
|
|
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
|
|
|
NM_004586.3(RPS6KA3):c.1227+14T>C
|
|
|
NM_004586.3(RPS6KA3):c.1227+18T>C
|
|
|
NM_004586.3(RPS6KA3):c.1227+7G>A
|
|
|
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
|
|
|
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
|
|
|
NM_004586.3(RPS6KA3):c.126+13T>C
|
|
|
NM_004586.3(RPS6KA3):c.126+19C>T
|
|
|
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp)
|
rs2067605278
|
|
NM_004586.3(RPS6KA3):c.127-19C>G
|
|
|
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
|
|
|
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
|
|
|
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
|
|
|
NM_004586.3(RPS6KA3):c.1353+13dup
|
rs766402947
|
|
NM_004586.3(RPS6KA3):c.1353+5A>T
|
|
|
NM_004586.3(RPS6KA3):c.1353+6T>A
|
|
|
NM_004586.3(RPS6KA3):c.1354-15A>G
|
|
|
NM_004586.3(RPS6KA3):c.1354-17A>C
|
|
|
NM_004586.3(RPS6KA3):c.1377C>T (p.Asp459=)
|
|
|
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
|
|
|
NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=)
|
|
|
NM_004586.3(RPS6KA3):c.1422A>G (p.Pro474=)
|
|
|
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
|
|
|
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
|
|
|
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
|
|
|
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
|
|
|
NM_004586.3(RPS6KA3):c.1602+13A>C
|
|
|
NM_004586.3(RPS6KA3):c.1602+17C>T
|
|
|
NM_004586.3(RPS6KA3):c.1602+2del
|
rs2148649846
|
|
NM_004586.3(RPS6KA3):c.1602+2dup
|
|
|
NM_004586.3(RPS6KA3):c.1603-19T>G
|
|
|
NM_004586.3(RPS6KA3):c.1603-5A>G
|
rs1569194162
|
|
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
|
|
|
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
|
|
|
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
|
|
|
NM_004586.3(RPS6KA3):c.1765-2A>C
|
rs2067343280
|
|
NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro)
|
rs1429116502
|
|
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
|
|
|
NM_004586.3(RPS6KA3):c.1842-20T>C
|
|
|
NM_004586.3(RPS6KA3):c.1842-7A>G
|
|
|
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer)
|
rs1569190602
|
|
NM_004586.3(RPS6KA3):c.1851A>G (p.Pro617=)
|
|
|
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp)
|
rs2148635858
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=)
|
|
|
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
|
|
|
NM_004586.3(RPS6KA3):c.1959+17A>C
|
|
|
NM_004586.3(RPS6KA3):c.1960-16A>T
|
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
|
|
|
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
|
|
|
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
|
|
|
NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=)
|
|
|
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
|
|
|
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
|
|
|
NM_004586.3(RPS6KA3):c.2100+15A>G
|
|
|
NM_004586.3(RPS6KA3):c.2100+5G>A
|
|
|
NM_004586.3(RPS6KA3):c.2101-19C>A
|
|
|
NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)
|
|
|
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
|
|
|
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs)
|
rs2148622591
|
|
NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)
|
|
|
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=)
|
rs1555950495
|
|
NM_004586.3(RPS6KA3):c.243+19C>T
|
|
|
NM_004586.3(RPS6KA3):c.243+6T>G
|
|
|
NM_004586.3(RPS6KA3):c.244-17C>T
|
|
|
NM_004586.3(RPS6KA3):c.244-20T>C
|
|
|
NM_004586.3(RPS6KA3):c.244-4G>T
|
|
|
NM_004586.3(RPS6KA3):c.244-7A>C
|
|
|
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer)
|
rs2148721944
|
|
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val)
|
rs1569232184
|
|
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
|
|
|
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
|
|
|
NM_004586.3(RPS6KA3):c.318A>G (p.Thr106=)
|
|
|
NM_004586.3(RPS6KA3):c.325+16A>G
|
|
|
NM_004586.3(RPS6KA3):c.325+6T>A
|
|
|
NM_004586.3(RPS6KA3):c.326-20A>C
|
|
|
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
|
|
|
NM_004586.3(RPS6KA3):c.387T>C (p.Phe129=)
|
|
|
NM_004586.3(RPS6KA3):c.406+11G>A
|
rs2148703536
|
|
NM_004586.3(RPS6KA3):c.406+12C>A
|
|
|
NM_004586.3(RPS6KA3):c.406+13C>T
|
|
|
NM_004586.3(RPS6KA3):c.406+14G>A
|
|
|
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
|
|
|
NM_004586.3(RPS6KA3):c.486+20T>G
|
|
|
NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)
|
|
|
NM_004586.3(RPS6KA3):c.593+16A>G
|
|
|
NM_004586.3(RPS6KA3):c.593+2_593+5del
|
rs1555942692
|
|
NM_004586.3(RPS6KA3):c.593+7A>C
|
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
NM_004586.3(RPS6KA3):c.594-18T>C
|
|
|
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
|
|
|
NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile)
|
rs996264009
|
|
NM_004586.3(RPS6KA3):c.631+12del
|
|
|
NM_004586.3(RPS6KA3):c.631+12dup
|
rs751517771
|
|
NM_004586.3(RPS6KA3):c.631+17C>T
|
|
|
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
|
|
|
NM_004586.3(RPS6KA3):c.70-15C>T
|
|
|
NM_004586.3(RPS6KA3):c.70-19C>A
|
|
|
NM_004586.3(RPS6KA3):c.70-20G>A
|
|
|
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val)
|
rs1569216043
|
|
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
|
|
|
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)
|
rs1603425345
|
|
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs)
|
rs2148686409
|
|
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)
|
rs1569215936
|
|
NM_004586.3(RPS6KA3):c.765T>A (p.Gly255=)
|
|
|
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs)
|
rs2148686334
|
|
NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=)
|
|
|
NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val)
|
rs2148686350
|
|
NM_004586.3(RPS6KA3):c.775-17A>G
|
|
|
NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr)
|
|
|
NM_004586.3(RPS6KA3):c.840_845+3del
|
|
|
NM_004586.3(RPS6KA3):c.845+10C>T
|
|
|
NM_004586.3(RPS6KA3):c.845+5G>A
|
|
|
NM_004586.3(RPS6KA3):c.846-13A>G
|
|
|
NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
|
|
|
NM_004586.3(RPS6KA3):c.877C>G (p.Pro293Ala)
|
|
|
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
|
|
|
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)
|
rs1603422409
|
|
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
|
|
|
NM_004586.3(RPS6KA3):c.934+14_934+17del
|
|
|
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
|
|
|
NM_004586.3(RPS6KA3):c.999+2dup
|
rs2067702056
|
|