NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)
|
rs148932047
|
0.00004
|
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys)
|
rs371703979
|
0.00004
|
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)
|
rs141659018
|
0.00004
|
NM_007055.4(POLR3A):c.1572+1G>A
|
rs141484643
|
0.00003
|
NM_007055.4(POLR3A):c.2617-1G>A
|
rs181087667
|
0.00002
|
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)
|
rs267608682
|
0.00002
|
NM_007055.4(POLR3A):c.1048+5G>T
|
rs890755853
|
0.00001
|
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)
|
rs267608673
|
0.00001
|
NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter)
|
rs745418947
|
0.00001
|
NM_007055.4(POLR3A):c.147_148insT (p.Pro50fs)
|
rs772708260
|
0.00001
|
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)
|
rs774007232
|
0.00001
|
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)
|
rs267608670
|
0.00001
|
NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter)
|
rs780839834
|
0.00001
|
NM_007055.4(POLR3A):c.2422C>T (p.Arg808Ter)
|
rs750874617
|
0.00001
|
NM_007055.4(POLR3A):c.3337-11T>C
|
rs1564613755
|
0.00001
|
NM_007055.4(POLR3A):c.3337-5T>A
|
rs368905417
|
0.00001
|
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)
|
rs755978559
|
0.00001
|
NM_007055.4(POLR3A):c.3669C>A (p.Tyr1223Ter)
|
rs1337528878
|
0.00001
|
NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer)
|
rs1292401633
|
0.00001
|
NM_007055.4(POLR3A):c.601del (p.Ile201fs)
|
rs777280350
|
0.00001
|
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter)
|
rs546487084
|
0.00001
|
NC_000010.10:g.(79779024_79781303)_(79782143_79784306)del
|
|
|
NC_000010.10:g.(?_79737218)_(79745937_?)del
|
|
|
NC_000010.10:g.(?_79767440)_(79770318_?)del
|
|
|
NC_000010.10:g.(?_79780889)_(79784717_?)del
|
|
|
NC_000010.10:g.(?_79781284)_(79782162_?)del
|
|
|
NM_007055.4(POLR3A):c.*18C>T
|
rs1248039821
|
|
NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter)
|
rs1847583387
|
|
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)
|
rs769791060
|
|
NM_007055.4(POLR3A):c.112del (p.Ser38fs)
|
rs2131961978
|
|
NM_007055.4(POLR3A):c.1229dup (p.Asn410fs)
|
rs2131956457
|
|
NM_007055.4(POLR3A):c.1325_1326del (p.Gln442fs)
|
|
|
NM_007055.4(POLR3A):c.1608dup (p.Pro537fs)
|
rs2131950092
|
|
NM_007055.4(POLR3A):c.1681C>T (p.Arg561Ter)
|
rs1472614573
|
|
NM_007055.4(POLR3A):c.1738A>T (p.Lys580Ter)
|
|
|
NM_007055.4(POLR3A):c.1740dup (p.Val581fs)
|
rs781745727
|
|
NM_007055.4(POLR3A):c.1771-6C>G
|
rs115020338
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
NM_007055.4(POLR3A):c.1784G>A (p.Trp595Ter)
|
|
|
NM_007055.4(POLR3A):c.1800C>T (p.Ile600=)
|
rs1564620047
|
|
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs)
|
rs1847443896
|
|
NM_007055.4(POLR3A):c.1909+18G>A
|
rs267608677
|
|
NM_007055.4(POLR3A):c.2163C>A (p.Tyr721Ter)
|
rs2131945763
|
|
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)
|
rs267608679
|
|
NM_007055.4(POLR3A):c.2176G>T (p.Glu726Ter)
|
|
|
NM_007055.4(POLR3A):c.2257_2278dup (p.Arg760fs)
|
rs2131943863
|
|
NM_007055.4(POLR3A):c.2323_2329del (p.Asn775fs)
|
rs1847364209
|
|
NM_007055.4(POLR3A):c.2325C>G (p.Asn775Lys)
|
rs1589310432
|
|
NM_007055.4(POLR3A):c.2344del (p.Leu782fs)
|
|
|
NM_007055.4(POLR3A):c.2360_2364dup (p.Phe789fs)
|
|
|
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter)
|
rs1847352468
|
|
NM_007055.4(POLR3A):c.2474C>G (p.Ser825Ter)
|
rs1564617848
|
|
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)
|
rs267608671
|
|
NM_007055.4(POLR3A):c.2631_2640del (p.Ser878fs)
|
|
|
NM_007055.4(POLR3A):c.2658T>A (p.Tyr886Ter)
|
rs995590193
|
|
NM_007055.4(POLR3A):c.2671C>T (p.Arg891Ter)
|
|
|
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn)
|
rs267608681
|
|
NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)
|
|
|
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)
|
rs267608674
|
|
NM_007055.4(POLR3A):c.2988+1G>A
|
rs201733323
|
|
NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)
|
|
|
NM_007055.4(POLR3A):c.3337-1G>A
|
rs1041175828
|
|
NM_007055.4(POLR3A):c.3583del (p.Asp1195fs)
|
rs747683665
|
|
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)
|
rs928051665
|
|
NM_007055.4(POLR3A):c.3839dup (p.Met1280fs)
|
rs2131926804
|
|
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)
|
rs1378008503
|
|
NM_007055.4(POLR3A):c.3951dup (p.Leu1318fs)
|
|
|
NM_007055.4(POLR3A):c.3G>T (p.Met1Ile)
|
rs1168641193
|
|
NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)
|
rs768222183
|
|
NM_007055.4(POLR3A):c.491-2A>G
|
rs886041636
|
|
NM_007055.4(POLR3A):c.646-665_1185+867del
|
|
|
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)
|
|
|
NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]
|
|
|