Full data view for gene ATM

Information The variants shown are described using the NM_000051.3 transcript reference sequence.

521 entries on 6 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-30-13_-30-12insT r.(=) p.(=) g.108098309_108098310insT Copied from the Exome Variant Server ATM_000001 9/12510 5/8250 4/4260 - - - - - - -
?/? c.-18G>A r.(=) p.(=) g.108098334G>A Copied from the Exome Variant Server ATM_000002 1/12996 1/8594 0/4402 - - - - - - -
?/? c.37C>T r.(?) p.(Arg13Cys) g.108098388C>T Copied from the Exome Variant Server ATM_000003 1/12996 0/8594 1/4402 - - - - - - -
?/? c.72+37_72+38del r.(=) p.(=) g.108098460_108098461del Copied from the Exome Variant Server ATM_000004 4202/12514 3457/8250 745/4264 - - - - - - -
?/? c.86A>C r.(?) p.(Lys29Thr) g.108098516A>C Copied from the Exome Variant Server ATM_000005 1/12992 0/8594 1/4398 - - - - - - -
?/? c.94C>T r.(?) p.(Arg32Cys) g.108098524C>T Copied from the Exome Variant Server ATM_000006 1/12994 1/8594 0/4400 - - - - - - -
?/? c.95G>T r.(?) p.(Arg32Leu) g.108098525G>T Copied from the Exome Variant Server ATM_000007 1/12996 1/8594 0/4402 - - - - - - -
?/? c.103C>A r.(=) p.(=) g.108098533C>A Copied from the Exome Variant Server ATM_000008 5/12996 0/8594 5/4402 - - - - - - -
?/? c.131A>G r.(?) p.(Asp44Gly) g.108098561A>G Copied from the Exome Variant Server ATM_000009 3/12990 0/8588 3/4402 - - - - - - -
?/? c.133C>T r.(?) p.(Arg45Trp) g.108098563C>T Copied from the Exome Variant Server ATM_000010 2/12990 1/8588 1/4402 - - - - - - -
?/? c.146C>G r.(?) p.(Ser49Cys) g.108098576C>G Copied from the Exome Variant Server ATM_000011 129/12990 117/8588 12/4402 - - - - - - -
?/? c.162T>C r.(=) p.(=) g.108098592T>C Copied from the Exome Variant Server ATM_000012 26/12990 22/8588 4/4402 - - - - - - -
?/? c.185+40C>G r.(=) p.(=) g.108098655C>G Copied from the Exome Variant Server ATM_000013 3/12932 0/8556 3/4376 - - - - - - -
?/? c.186-17A>G r.(=) p.(=) g.108099888A>G Copied from the Exome Variant Server ATM_000014 203/12924 7/8580 196/4344 - - - - - - -
?/? c.186-7C>T r.(=) p.(=) g.108099898C>T Copied from the Exome Variant Server ATM_000015 62/12946 0/8584 62/4362 - - - - - - -
?/? c.266C>T r.(?) p.(Ser89Phe) g.108099985C>T Copied from the Exome Variant Server ATM_000016 1/12998 0/8596 1/4402 - - - - - - -
?/? c.279G>A r.(=) p.(=) g.108099998G>A Copied from the Exome Variant Server ATM_000017 1/12998 0/8596 1/4402 - - - - - - -
?/? c.295A>G r.(?) p.(Ser99Gly) g.108100014A>G Copied from the Exome Variant Server ATM_000018 2/12998 2/8596 0/4402 - - - - - - -
?/? c.320G>A r.(?) p.(Cys107Tyr) g.108100039G>A Copied from the Exome Variant Server ATM_000019 8/12998 0/8596 8/4402 - - - - - - -
?/? c.331+27A>G r.(=) p.(=) g.108100077A>G Copied from the Exome Variant Server ATM_000020 1/12998 0/8596 1/4402 - - - - - - -
?/? c.331+48C>T r.(=) p.(=) g.108100098C>T Copied from the Exome Variant Server ATM_000021 15/12982 10/8588 5/4394 - - - - - - -
?/? c.331+50C>T r.(=) p.(=) g.108100100C>T Copied from the Exome Variant Server ATM_000022 4/12976 1/8584 3/4392 - - - - - - -
?/? c.332-3T>C r.spl? p.? g.108106394T>C Copied from the Exome Variant Server ATM_000023 1/12994 1/8594 0/4400 - - - - - - -
?/? c.334G>A r.(?) p.(Ala112Thr) g.108106399G>A Copied from the Exome Variant Server ATM_000024 10/12996 0/8594 10/4402 - - - - - - -
?/? c.370A>G r.(?) p.(Ile124Val) g.108106435A>G Copied from the Exome Variant Server ATM_000025 35/12998 0/8596 35/4402 - - - - - - -
?/? c.378T>A r.(?) p.(Asp126Glu) g.108106443T>A Copied from the Exome Variant Server ATM_000027 855/12998 7/8596 848/4402 - - - - - - -
?/? c.412G>A r.(?) p.(Gly138Arg) g.108106477G>A Copied from the Exome Variant Server ATM_000029 1/12998 0/8596 1/4402 - - - - - - -
?/? c.496+14_496+16del r.(=) p.(=) g.108106575_108106577del Copied from the Exome Variant Server ATM_000031 3/12518 0/8254 3/4264 - - - - - - -
?/? c.496+39T>G r.(=) p.(=) g.108106600T>G Copied from the Exome Variant Server ATM_000033 1/12998 0/8596 1/4402 - - - - - - -
?/? c.497-18del r.(=) p.(=) g.108114662del Copied from the Exome Variant Server ATM_000028 2293/11582 1524/7712 769/3870 - - - - - - -
?/? c.497-18dup r.(=) p.(=) g.108114662dup Copied from the Exome Variant Server ATM_000026 1086/11582 724/7712 362/3870 - - - - - - -
?/? c.510G>A r.(=) p.(=) g.108114693G>A Copied from the Exome Variant Server ATM_000030 1/12974 1/8578 0/4396 - - - - - - -
?/? c.518G>T r.(?) p.(Arg173Met) g.108114701G>T Copied from the Exome Variant Server ATM_000032 1/12988 1/8588 0/4400 - - - - - - -
?/? c.526C>G r.(?) p.(Leu176Val) g.108114709C>G Copied from the Exome Variant Server ATM_000034 1/12994 0/8594 1/4400 - - - - - - -
?/? c.544G>C r.(?) p.(Val182Leu) g.108114727G>C Copied from the Exome Variant Server ATM_000035 104/12994 6/8594 98/4400 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.108114792C>T Copied from the Exome Variant Server ATM_000036 15/12994 13/8596 2/4398 - - - - - - -
?/? c.610G>A r.(?) p.(Gly204Arg) g.108114793G>A Copied from the Exome Variant Server ATM_000037 3/12994 3/8596 0/4398 - - - - - - -
?/? c.657T>C r.(=) p.(=) g.108114840T>C Copied from the Exome Variant Server ATM_000038 385/12998 1/8596 384/4402 - - - - - - -
?/? c.659C>T r.(?) p.(Ala220Val) g.108114842C>T Copied from the Exome Variant Server ATM_000039 1/12998 1/8596 0/4402 - - - - - - -
?/? c.662+19_662+20insT r.(=) p.(=) g.108114864_108114865insT Copied from the Exome Variant Server ATM_000040 2/12512 0/8252 2/4260 - - - - - - -
?/? c.662+23T>C r.(=) p.(=) g.108114868T>C Copied from the Exome Variant Server ATM_000041 1/12994 0/8594 1/4400 - - - - - - -
?/? c.662+38T>C r.(=) p.(=) g.108114883T>C Copied from the Exome Variant Server ATM_000042 387/12992 1/8596 386/4396 - - - - - - -
?/? c.663-43T>A r.(=) p.(=) g.108115472T>A Copied from the Exome Variant Server ATM_000043 3/12994 1/8594 2/4400 - - - - - - -
?/? c.663-41C>A r.(=) p.(=) g.108115474C>A Copied from the Exome Variant Server ATM_000044 2/12996 0/8594 2/4402 - - - - - - -
?/? c.663-37C>T r.(=) p.(=) g.108115478C>T Copied from the Exome Variant Server ATM_000045 1/12996 1/8594 0/4402 - - - - - - -
?/? c.670A>G r.(?) p.(Lys224Glu) g.108115522A>G Copied from the Exome Variant Server ATM_000046 2/12996 2/8596 0/4400 - - - - - - -
?/? c.709A>G r.(?) p.(Thr237Ala) g.108115561A>G Copied from the Exome Variant Server ATM_000047 1/12996 0/8596 1/4400 - - - - - - -
?/? c.713T>C r.(?) p.(Ile238Thr) g.108115565T>C Copied from the Exome Variant Server ATM_000048 1/12996 0/8596 1/4400 - - - - - - -
?/? c.716T>C r.(?) p.(Phe239Ser) g.108115568T>C Copied from the Exome Variant Server ATM_000049 1/12996 0/8596 1/4400 - - - - - - -
?/? c.735C>T r.(=) p.(=) g.108115587C>T Copied from the Exome Variant Server ATM_000050 125/12996 115/8596 10/4400 - - - - - - -
?/? c.749G>A r.(?) p.(Arg250Gln) g.108115601G>A Copied from the Exome Variant Server ATM_000051 2/12996 2/8596 0/4400 - - - - - - -
?/? c.852A>G r.(=) p.(=) g.108115704A>G Copied from the Exome Variant Server ATM_000052 1/12998 0/8596 1/4402 - - - - - - -
?/? c.858A>G r.(=) p.(=) g.108115710A>G Copied from the Exome Variant Server ATM_000053 2/12998 0/8596 2/4402 - - - - - - -
?/? c.861T>C r.(=) p.(=) g.108115713T>C Copied from the Exome Variant Server ATM_000054 3/12998 0/8596 3/4402 - - - - - - -
?/? c.901+25T>G r.(=) p.(=) g.108115778T>G Copied from the Exome Variant Server ATM_000055 758/12884 7/8554 751/4330 - - - - - - -
?/? c.902G>A r.(?) p.(Gly301Asp) g.108117691G>A Copied from the Exome Variant Server ATM_000056 1/12988 1/8588 0/4400 - - - - - - -
?/? c.946T>C r.(?) p.(Tyr316His) g.108117735T>C Copied from the Exome Variant Server ATM_000057 1/12994 1/8592 0/4402 - - - - - - -
?/? c.998C>T r.(?) p.(Ser333Phe) g.108117787C>T Copied from the Exome Variant Server ATM_000058 18/12998 15/8596 3/4402 - - - - - - -
?/? c.1009C>T r.(?) p.(Arg337Cys) g.108117798C>T Copied from the Exome Variant Server ATM_000059 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1048G>C r.(?) p.(Ala350Pro) g.108117837G>C Copied from the Exome Variant Server ATM_000060 1/12994 1/8592 0/4402 - - - - - - -
?/? c.1049C>T r.(?) p.(Ala350Val) g.108117838C>T Copied from the Exome Variant Server ATM_000061 1/12994 1/8592 0/4402 - - - - - - -
?/? c.1055T>C r.(?) p.(Ile352Thr) g.108117844T>C Copied from the Exome Variant Server ATM_000062 1/12994 1/8592 0/4402 - - - - - - -
?/? c.1065+17A>C r.(=) p.(=) g.108117871A>C Copied from the Exome Variant Server ATM_000063 1/12994 0/8592 1/4402 - - - - - - -
?/? c.1065+37C>T r.(=) p.(=) g.108117891C>T Copied from the Exome Variant Server ATM_000064 1/12984 1/8590 0/4394 - - - - - - -
?/? c.1066-48G>A r.(=) p.(=) g.108119612G>A Copied from the Exome Variant Server ATM_000065 1/12614 0/8442 1/4172 - - - - - - -
?/? c.1066-6T>G r.(=) p.(=) g.108119654T>G Copied from the Exome Variant Server ATM_000066 23/12980 22/8594 1/4386 - - - - - - -
?/? c.1073A>G r.(?) p.(Asn358Ser) g.108119667A>G Copied from the Exome Variant Server ATM_000067 9/12994 0/8594 9/4400 - - - - - - -
?/? c.1110C>T r.(=) p.(=) g.108119704C>T Copied from the Exome Variant Server ATM_000068 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1155A>T r.(?) p.(Lys385Asn) g.108119749A>T Copied from the Exome Variant Server ATM_000069 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1176C>G r.(=) p.(=) g.108119770C>G Copied from the Exome Variant Server ATM_000070 221/12998 0/8596 221/4402 - - - - - - -
?/? c.1229T>C r.(?) p.(Val410Ala) g.108119823T>C Copied from the Exome Variant Server ATM_000071 23/12998 19/8596 4/4402 - - - - - - -
?/? c.1235+45G>A r.(=) p.(=) g.108119874G>A Copied from the Exome Variant Server ATM_000072 1/12996 0/8594 1/4402 - - - - - - -
?/? c.1236-17_1236-16del r.(=) p.(=) g.108121411_108121412del Copied from the Exome Variant Server ATM_000074 202/12206 116/8068 86/4138 - - - - - - -
?/? c.1236-17_1236-16dup r.(=) p.(=) g.108121411_108121412dup Copied from the Exome Variant Server ATM_000076 443/12206 315/8068 128/4138 - - - - - - -
?/? c.1236-16del r.(=) p.(=) g.108121412del Copied from the Exome Variant Server ATM_000079 1438/12206 840/8068 598/4138 - - - - - - -
?/? c.1236-16dup r.(=) p.(=) g.108121412dup Copied from the Exome Variant Server ATM_000078 3969/12206 2803/8068 1166/4138 - - - - - - -
?/? c.1254A>G r.(=) p.(=) g.108121446A>G Copied from the Exome Variant Server ATM_000081 345/12998 7/8596 338/4402 - - - - - - -
?/? c.1261T>C r.(?) p.(Ser421Pro) g.108121453T>C Copied from the Exome Variant Server ATM_000083 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1271C>A r.(?) p.(Pro424His) g.108121463C>A Copied from the Exome Variant Server ATM_000085 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1272T>C r.(=) p.(=) g.108121464T>C Copied from the Exome Variant Server ATM_000073 5/12998 5/8596 0/4402 - - - - - - -
?/? c.1380G>C r.(=) p.(=) g.108121572G>C Copied from the Exome Variant Server ATM_000075 11/12998 0/8596 11/4402 - - - - - - -
?/? c.1402_1403del r.(?) p.(Lys468Glufs*18) g.108121594_108121595del Copied from the Exome Variant Server ATM_000077 1/12512 1/8250 0/4262 - - - - - - -
?/? c.1440A>C r.(?) p.(Leu480Phe) g.108121632A>C Copied from the Exome Variant Server ATM_000080 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1444A>C r.(?) p.(Lys482Gln) g.108121636A>C Copied from the Exome Variant Server ATM_000082 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1464G>T r.(?) p.(Trp488Cys) g.108121656G>T Copied from the Exome Variant Server ATM_000084 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1541G>A r.(?) p.(Gly514Asp) g.108121733G>A Copied from the Exome Variant Server ATM_000086 275/12996 2/8594 273/4402 - - - - - - -
?/? c.1561_1562del r.(?) p.(Glu522Ilefs*43) g.108121753_108121754del Copied from the Exome Variant Server ATM_000087 3/12512 1/8250 2/4262 - - - - - - -
?/? c.1595G>A r.(?) p.(Cys532Tyr) g.108121787G>A Copied from the Exome Variant Server ATM_000088 1/12992 1/8594 0/4398 - - - - - - -
?/? c.1607+43C>T r.(=) p.(=) g.108121842C>T Copied from the Exome Variant Server ATM_000089 1/12894 0/8566 1/4328 - - - - - - -
?/? c.1607+45C>G r.(=) p.(=) g.108121844C>G Copied from the Exome Variant Server ATM_000090 1/12890 1/8564 0/4326 - - - - - - -
?/? c.1607+49C>T r.(=) p.(=) g.108121848C>T Copied from the Exome Variant Server ATM_000091 2/12872 0/8556 2/4316 - - - - - - -
?/? c.1608-24C>A r.(=) p.(=) g.108122540C>A Copied from the Exome Variant Server ATM_000092 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1631T>C r.(?) p.(Leu544Ser) g.108122587T>C Copied from the Exome Variant Server ATM_000093 2/12998 0/8596 2/4402 - - - - - - -
?/? c.1636C>G r.(?) p.(Leu546Val) g.108122592C>G Copied from the Exome Variant Server ATM_000094 227/12998 1/8596 226/4402 - - - - - - -
?/? c.1685A>G r.(?) p.(Asn562Ser) g.108122641A>G Copied from the Exome Variant Server ATM_000095 2/12998 0/8596 2/4402 - - - - - - -
?/? c.1722A>G r.(=) p.(=) g.108122678A>G Copied from the Exome Variant Server ATM_000096 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1744T>C r.(?) p.(Phe582Leu) g.108122700T>C Copied from the Exome Variant Server ATM_000097 8/12998 8/8596 0/4402 - - - - - - -
?/? c.1746C>T r.(=) p.(=) g.108122702C>T Copied from the Exome Variant Server ATM_000098 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1773T>C r.(=) p.(=) g.108122729T>C Copied from the Exome Variant Server ATM_000099 3/12998 3/8596 0/4402 - - - - - - -
?/? c.1802+29_1802+30del r.(=) p.(=) g.108122787_108122788del Copied from the Exome Variant Server ATM_000100 2/12458 2/8232 0/4226 - - - - - - -
Legend   « First ‹ Prev     1 2 3 4 5 6     Next › Last »