All transcript variants in gene AAAS

Information The variants shown are described using the NM_001173466.1 transcript reference sequence.

124 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-48G>A r.(=) p.(=) g.53715297C>T Copied from the Exome Variant Server AAAS_000124 1/13006 0/8600 1/4406
?/? c.-29C>G r.(=) p.(=) g.53715278G>C Copied from the Exome Variant Server AAAS_000123 1/13006 0/8600 1/4406
?/? c.-7C>T r.(=) p.(=) g.53715256G>A Copied from the Exome Variant Server AAAS_000122 1/13006 1/8600 0/4406
?/? c.43C>A r.(?) p.(Gln15Lys) g.53715207G>T Copied from the Exome Variant Server AAAS_000121 2/13006 2/8600 0/4406
?/? c.57_58del r.(?) p.(Tyr19*) g.53715192_53715193del Copied from the Exome Variant Server AAAS_000120 8/12518 0/8254 8/4264
?/? c.63C>G r.(?) p.(His21Gln) g.53715187G>C Copied from the Exome Variant Server AAAS_000119 2/13006 1/8600 1/4406
?/? c.96_97insG r.(?) p.(Ser33Glufs*54) g.53715153_53715154insC Copied from the Exome Variant Server AAAS_000118 1/12518 0/8254 1/4264
?/? c.109G>A r.(?) p.(Asp37Asn) g.53715141C>T Copied from the Exome Variant Server AAAS_000117 1/13002 1/8598 0/4404
?/? c.123+11C>G r.(=) p.(=) g.53715116G>C Copied from the Exome Variant Server AAAS_000116 1/13004 0/8600 1/4404
?/? c.123+15G>C r.(=) p.(=) g.53715112C>G Copied from the Exome Variant Server AAAS_000115 1/13002 1/8598 0/4404
?/? c.124-47T>A r.(=) p.(=) g.53714523A>T Copied from the Exome Variant Server AAAS_000114 7/13006 7/8600 0/4406
?/? c.124-41G>T r.(=) p.(=) g.53714517C>A Copied from the Exome Variant Server AAAS_000113 1/13006 0/8600 1/4406
?/? c.124-33A>C r.(=) p.(=) g.53714509T>G Copied from the Exome Variant Server AAAS_000112 11891/13006 8592/8600 3299/4406
?/? c.124-28C>T r.(=) p.(=) g.53714504G>A Copied from the Exome Variant Server AAAS_000111 1/13006 1/8600 0/4406
?/? c.124-20T>C r.(=) p.(=) g.53714496A>G Copied from the Exome Variant Server AAAS_000110 11891/13006 8592/8600 3299/4406
?/? c.131A>G r.(?) p.(Asn44Ser) g.53714469T>C Copied from the Exome Variant Server AAAS_000109 2/13006 0/8600 2/4406
?/? c.234G>A r.(=) p.(=) g.53714366C>T Copied from the Exome Variant Server AAAS_000108 1/13006 0/8600 1/4406
?/? c.251+41A>G r.(=) p.(=) g.53714308T>C Copied from the Exome Variant Server AAAS_000107 1/13006 0/8600 1/4406
?/? c.252-42G>C r.(=) p.(=) g.53709608C>G Copied from the Exome Variant Server AAAS_000106 2/13004 2/8600 0/4404
?/? c.253C>A r.(?) p.(Arg85Ser) g.53709565G>T Copied from the Exome Variant Server AAAS_000105 1/13006 1/8600 0/4406
?/? c.270T>G r.(?) p.(Phe90Leu) g.53709548A>C Copied from the Exome Variant Server AAAS_000104 6/13006 0/8600 6/4406
?/? c.307+70C>A r.(=) p.(=) g.53709441G>T Copied from the Exome Variant Server AAAS_000103 3/4566 0/3182 3/1384
?/? c.333C>T r.(=) p.(=) g.53709185G>A Copied from the Exome Variant Server AAAS_000102 3/13004 0/8600 3/4404
?/? c.362C>T r.(?) p.(Ala121Val) g.53709156G>A Copied from the Exome Variant Server AAAS_000101 1/13004 0/8600 1/4404
?/? c.400-22T>C r.(=) p.(=) g.53708946A>G Copied from the Exome Variant Server AAAS_000100 6/13006 6/8600 0/4406
?/? c.408C>T r.(=) p.(=) g.53708916G>A Copied from the Exome Variant Server AAAS_000099 2/13006 0/8600 2/4406
?/? c.414T>C r.(=) p.(=) g.53708910A>G Copied from the Exome Variant Server AAAS_000098 985/13006 881/8600 104/4406
?/? c.420C>T r.(=) p.(=) g.53708904G>A Copied from the Exome Variant Server AAAS_000097 1/13006 0/8600 1/4406
?/? c.446+16C>G r.(=) p.(=) g.53708862G>C Copied from the Exome Variant Server AAAS_000096 2/13006 0/8600 2/4406
?/? c.446+29G>A r.(=) p.(=) g.53708849C>T Copied from the Exome Variant Server AAAS_000095 1/13006 0/8600 1/4406
?/? c.447-316C>A r.(=) p.(=) g.53708541G>T Copied from the Exome Variant Server AAAS_000094 1/13006 1/8600 0/4406
?/? c.447-299_447-298del r.(=) p.(=) g.53708523_53708524del Copied from the Exome Variant Server AAAS_000093 48/12518 24/8254 24/4264
?/? c.447-15G>T r.(=) p.(=) g.53708240C>A Copied from the Exome Variant Server AAAS_000092 16/13006 0/8600 16/4406
?/? c.447-8C>T r.(=) p.(=) g.53708233G>A Copied from the Exome Variant Server AAAS_000091 1/13006 1/8600 0/4406
?/? c.472C>T r.(?) p.(Arg158Trp) g.53708200G>A Copied from the Exome Variant Server AAAS_000090 2/13006 1/8600 1/4406
?/? c.491C>T r.(?) p.(Ala164Val) g.53708181G>A Copied from the Exome Variant Server AAAS_000089 1/13006 0/8600 1/4406
?/? c.492G>A r.(=) p.(=) g.53708180C>T Copied from the Exome Variant Server AAAS_000088 1/13006 1/8600 0/4406
?/? c.508C>G r.(?) p.(Pro170Ala) g.53708164G>C Copied from the Exome Variant Server AAAS_000087 1/13006 0/8600 1/4406
?/? c.533T>C r.(?) p.(Val178Ala) g.53708139A>G Copied from the Exome Variant Server AAAS_000086 1/13006 0/8600 1/4406
?/? c.539G>C r.(?) p.(Cys180Ser) g.53708133C>G Copied from the Exome Variant Server AAAS_000085 4/13006 4/8600 0/4406
?/? c.568G>C r.(?) p.(Asp190His) g.53708104C>G Copied from the Exome Variant Server AAAS_000084 1/13006 1/8600 0/4406
?/? c.580T>C r.(=) p.(=) g.53708092A>G Copied from the Exome Variant Server AAAS_000083 64/13006 58/8600 6/4406
?/? c.624C>T r.(=) p.(=) g.53703472G>A Copied from the Exome Variant Server AAAS_000082 5/13006 0/8600 5/4406
?/? c.693C>T r.(=) p.(=) g.53703403G>A Copied from the Exome Variant Server AAAS_000081 2/13006 1/8600 1/4406
?/? c.694G>A r.(?) p.(Val232Met) g.53703402C>T Copied from the Exome Variant Server AAAS_000080 1/13006 0/8600 1/4406
?/? c.711+12C>T r.(=) p.(=) g.53703373G>A Copied from the Exome Variant Server AAAS_000078 1/13006 0/8600 1/4406
?/? c.711+19C>T r.(=) p.(=) g.53703366G>A Copied from the Exome Variant Server AAAS_000076 1/13006 1/8600 0/4406
?/? c.711+23T>C r.(=) p.(=) g.53703362A>G Copied from the Exome Variant Server AAAS_000079 1/13006 0/8600 1/4406
?/? c.711+29T>C r.(=) p.(=) g.53703356A>G Copied from the Exome Variant Server AAAS_000077 2/13006 0/8600 2/4406
?/? c.711+34G>A r.(=) p.(=) g.53703351C>T Copied from the Exome Variant Server AAAS_000075 2/13006 2/8600 0/4406
?/? c.719A>G r.(?) p.(Asp240Gly) g.53703058T>C Copied from the Exome Variant Server AAAS_000074 1/13006 0/8600 1/4406
?/? c.720T>C r.(=) p.(=) g.53703057A>G Copied from the Exome Variant Server AAAS_000073 1/13006 1/8600 0/4406
?/? c.756C>T r.(=) p.(=) g.53703021G>A Copied from the Exome Variant Server AAAS_000072 11787/13006 8587/8600 3200/4406
?/? c.757C>T r.(?) p.(Arg253*) g.53703020G>A Copied from the Exome Variant Server AAAS_000071 1/13006 1/8600 0/4406
?/? c.796G>A r.(?) p.(Gly266Ser) g.53702981C>T Copied from the Exome Variant Server AAAS_000070 1/13006 1/8600 0/4406
?/? c.813T>G r.(=) p.(=) g.53702964A>C Copied from the Exome Variant Server AAAS_000069 5/13006 5/8600 0/4406
?/? c.836+34C>T r.(=) p.(=) g.53702907G>A Copied from the Exome Variant Server AAAS_000068 8/13006 0/8600 8/4406
?/? c.836+45G>A r.(=) p.(=) g.53702896C>T Copied from the Exome Variant Server AAAS_000067 1/13006 0/8600 1/4406
?/? c.836+67G>A r.(=) p.(=) g.53702874C>T Copied from the Exome Variant Server AAAS_000066 1/4566 1/3182 0/1384
?/? c.837-1G>C r.spl? p.? g.53702805C>G Copied from the Exome Variant Server AAAS_000065 1/13006 0/8600 1/4406
?/? c.852G>C r.(?) p.(Gln284His) g.53702789C>G Copied from the Exome Variant Server AAAS_000064 1/13006 1/8600 0/4406
?/? c.875C>G r.(?) p.(Pro292Arg) g.53702766G>C Copied from the Exome Variant Server AAAS_000063 1/13006 1/8600 0/4406
?/? c.897+12C>T r.(=) p.(=) g.53702732G>A Copied from the Exome Variant Server AAAS_000062 2/13006 2/8600 0/4406
?/? c.897+20C>T r.(=) p.(=) g.53702724G>A Copied from the Exome Variant Server AAAS_000061 59/13006 0/8600 59/4406
?/? c.897+26C>T r.(=) p.(=) g.53702718G>A Copied from the Exome Variant Server AAAS_000060 1/13006 1/8600 0/4406
?/? c.897+44T>G r.(=) p.(=) g.53702700A>C Copied from the Exome Variant Server AAAS_000059 2/13006 2/8600 0/4406
?/? c.898-39T>C r.(=) p.(=) g.53702638A>G Copied from the Exome Variant Server AAAS_000058 1/13006 0/8600 1/4406
?/? c.898-25C>A r.(=) p.(=) g.53702624G>T Copied from the Exome Variant Server AAAS_000057 59/13006 0/8600 59/4406
?/? c.898-21C>T r.(=) p.(=) g.53702620G>A Copied from the Exome Variant Server AAAS_000056 2/13006 2/8600 0/4406
?/? c.898-11C>T r.(=) p.(=) g.53702610G>A Copied from the Exome Variant Server AAAS_000055 1/13006 0/8600 1/4406
?/? c.916G>C r.(?) p.(Asp306His) g.53702581C>G Copied from the Exome Variant Server AAAS_000054 2/13006 2/8600 0/4406
?/? c.936C>T r.(=) p.(=) g.53702561G>A Copied from the Exome Variant Server AAAS_000053 2/13006 1/8600 1/4406
?/? c.971C>T r.(?) p.(Ser324Phe) g.53702526G>A Copied from the Exome Variant Server AAAS_000052 2/13006 2/8600 0/4406
?/? c.977C>T r.(?) p.(Pro326Leu) g.53702520G>A Copied from the Exome Variant Server AAAS_000051 1/13006 1/8600 0/4406
?/? c.984T>C r.(=) p.(=) g.53702513A>G Copied from the Exome Variant Server AAAS_000050 1/13006 0/8600 1/4406
?/? c.988+51A>G r.(=) p.(=) g.53702458T>C Copied from the Exome Variant Server AAAS_000049 1/13006 0/8600 1/4406
?/? c.989-36T>G r.(=) p.(=) g.53702348A>C Copied from the Exome Variant Server AAAS_000048 1/13006 1/8600 0/4406
?/? c.989-22C>T r.(=) p.(=) g.53702334G>A Copied from the Exome Variant Server AAAS_000047 8/13006 3/8600 5/4406
?/? c.1005C>T r.(=) p.(=) g.53702296G>A Copied from the Exome Variant Server AAAS_000046 6/13006 0/8600 6/4406
?/? c.1006G>A r.(?) p.(Val336Ile) g.53702295C>T Copied from the Exome Variant Server AAAS_000045 1/13006 0/8600 1/4406
?/? c.1028C>T r.(?) p.(Thr343Met) g.53702273G>A Copied from the Exome Variant Server AAAS_000044 1/13006 1/8600 0/4406
?/? c.1045_1048del r.(?) p.(Ser349Argfs*33) g.53702253_53702256del Copied from the Exome Variant Server AAAS_000043 3/12518 3/8254 0/4264
?/? c.1082+5G>A r.spl? p.? g.53702214C>T Copied from the Exome Variant Server AAAS_000042 1/13006 1/8600 0/4406
?/? c.1082+39G>A r.(=) p.(=) g.53702180C>T Copied from the Exome Variant Server AAAS_000041 1/13006 0/8600 1/4406
?/? c.1083-25T>C r.(=) p.(=) g.53702158A>G Copied from the Exome Variant Server AAAS_000040 24/13006 0/8600 24/4406
?/? c.1083G>C r.(?) p.(Arg361Ser) g.53702133C>G Copied from the Exome Variant Server AAAS_000039 1/13006 1/8600 0/4406
?/? c.1088G>T r.(?) p.(Gly363Val) g.53702128C>A Copied from the Exome Variant Server AAAS_000038 1/13006 1/8600 0/4406
?/? c.1090G>A r.(?) p.(Gly364Arg) g.53702126C>T Copied from the Exome Variant Server AAAS_000037 1/13006 1/8600 0/4406
?/? c.1092_1093insA r.(?) p.(Glu365Argfs*28) g.53702123_53702124insT Copied from the Exome Variant Server AAAS_000036 2/12518 0/8254 2/4264
?/? c.1135G>A r.(?) p.(Ala379Thr) g.53702081C>T Copied from the Exome Variant Server AAAS_000035 3/13006 3/8600 0/4406
?/? c.1145T>C r.(?) p.(Met382Thr) g.53702071A>G Copied from the Exome Variant Server AAAS_000034 2/13006 0/8600 2/4406
?/? c.1150+8G>A r.(=) p.(=) g.53702058C>T Copied from the Exome Variant Server AAAS_000033 29/13006 0/8600 29/4406
?/? c.1150+26G>T r.(=) p.(=) g.53702040C>A Copied from the Exome Variant Server AAAS_000032 1/13006 0/8600 1/4406
?/? c.1150+43C>T r.(=) p.(=) g.53702023G>A Copied from the Exome Variant Server AAAS_000031 1/13006 1/8600 0/4406
?/? c.1151-34G>C r.(=) p.(=) g.53701951C>G Copied from the Exome Variant Server AAAS_000030 27/13006 0/8600 27/4406
?/? c.1156C>T r.(?) p.(Pro386Ser) g.53701912G>A Copied from the Exome Variant Server AAAS_000029 1/13006 1/8600 0/4406
?/? c.1197C>T r.(=) p.(=) g.53701871G>A Copied from the Exome Variant Server AAAS_000028 2/13006 0/8600 2/4406
?/? c.1202G>A r.(?) p.(Arg401Gln) g.53701866C>T Copied from the Exome Variant Server AAAS_000027 6/13006 6/8600 0/4406
?/? c.1210C>T r.(?) p.(Pro404Ser) g.53701858G>A Copied from the Exome Variant Server AAAS_000026 1/13006 1/8600 0/4406
?/? c.1211C>G r.(?) p.(Pro404Arg) g.53701857G>C Copied from the Exome Variant Server AAAS_000025 2/13006 2/8600 0/4406
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