NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)
|
rs758081262
|
0.00003
|
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)
|
rs587779815
|
0.00001
|
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)
|
rs762083530
|
0.00001
|
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)
|
rs764389018
|
0.00001
|
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)
|
rs786204433
|
0.00001
|
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)
|
rs775036118
|
0.00001
|
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)
|
rs730881336
|
0.00001
|
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)
|
rs876660933
|
0.00001
|
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)
|
rs747727055
|
0.00001
|
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)
|
rs1591517571
|
|
NM_000051.4(ATM):c.1235+2T>C
|
rs2135296157
|
|
NM_000051.4(ATM):c.1258del (p.Ile420fs)
|
|
|
NM_000051.4(ATM):c.1347_1348del (p.Glu450fs)
|
|
|
NM_000051.4(ATM):c.1608-1G>A
|
rs1565385010
|
|
NM_000051.4(ATM):c.1899-2A>C
|
|
|
NM_000051.4(ATM):c.191del (p.Leu64fs)
|
|
|
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)
|
rs768362387
|
|
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)
|
rs1060501599
|
|
NM_000051.4(ATM):c.211G>T (p.Glu71Ter)
|
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2145del (p.Val716fs)
|
|
|
NM_000051.4(ATM):c.2187C>G (p.Tyr729Ter)
|
|
|
NM_000051.4(ATM):c.2530G>T (p.Gly844Ter)
|
|
|
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)
|
rs879254046
|
|
NM_000051.4(ATM):c.2554dup (p.Gln852fs)
|
|
|
NM_000051.4(ATM):c.2638+1G>T
|
rs2135509713
|
|
NM_000051.4(ATM):c.270del (p.Arg90fs)
|
|
|
NM_000051.4(ATM):c.2723del (p.Val908fs)
|
|
|
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)
|
rs1057517253
|
|
NM_000051.4(ATM):c.3077+1G>T
|
rs192810283
|
|
NM_000051.4(ATM):c.3394A>T (p.Arg1132Ter)
|
|
|
NM_000051.4(ATM):c.3577-1G>A
|
|
|
NM_000051.4(ATM):c.3746+1G>T
|
rs2082309297
|
|
NM_000051.4(ATM):c.3921del (p.Met1308fs)
|
|
|
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
|
rs2082389962
|
|
NM_000051.4(ATM):c.3993+2T>C
|
rs2135710273
|
|
NM_000051.4(ATM):c.4228A>T (p.Lys1410Ter)
|
|
|
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs)
|
rs1591663236
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)
|
rs771936821
|
|
NM_000051.4(ATM):c.4772T>A (p.Leu1591Ter)
|
|
|
NM_000051.4(ATM):c.4776+2T>A
|
rs587781927
|
|
NM_000051.4(ATM):c.4879_4886dup (p.Asp1630fs)
|
|
|
NM_000051.4(ATM):c.4888dup (p.Asp1630fs)
|
|
|
NM_000051.4(ATM):c.5125C>T (p.Gln1709Ter)
|
|
|
NM_000051.4(ATM):c.5170G>T (p.Glu1724Ter)
|
|
|
NM_000051.4(ATM):c.5373_5376dup (p.Asn1793fs)
|
|
|
NM_000051.4(ATM):c.5462_5476delinsTCTTCAATTATTCTTCAATTATTAAAGCCAATGTGTGAAATTCTTCAATTA (p.Cys1821_Leu1826delinsPhePheAsnTyrSerSerIleIleLysAlaAsnValTer)
|
|
|
NM_000051.4(ATM):c.550A>T (p.Arg184Ter)
|
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5674+1G>A
|
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5756_5759del (p.Gln1919fs)
|
|
|
NM_000051.4(ATM):c.588del (p.Gly197fs)
|
rs1057516683
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|