All transcript variants in gene CYP11B2

Information The variants shown are described using the NM_000498.3 transcript reference sequence.

129 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.9C>A r.(=) p.(=) g.143999248G>T Copied from the Exome Variant Server CYP11B2_000129 4/13006 4/8600 0/4406
?/? c.65G>A r.(?) p.(Arg22Gln) g.143999192C>T Copied from the Exome Variant Server CYP11B2_000128 1/13006 1/8600 0/4406
?/? c.83C>T r.(?) p.(Ala28Val) g.143999174G>A Copied from the Exome Variant Server CYP11B2_000127 6/13006 0/8600 6/4406
?/? c.85G>A r.(?) p.(Ala29Thr) g.143999172C>T Copied from the Exome Variant Server CYP11B2_000126 155/13006 1/8600 154/4406
?/? c.88C>T r.(?) p.(Arg30Trp) g.143999169G>A Copied from the Exome Variant Server CYP11B2_000125 1/13006 1/8600 0/4406
?/? c.89G>A r.(?) p.(Arg30Gln) g.143999168C>T Copied from the Exome Variant Server CYP11B2_000124 42/13006 1/8600 41/4406
?/? c.102G>A r.(=) p.(=) g.143999155C>T Copied from the Exome Variant Server CYP11B2_000123 2/13006 2/8600 0/4406
?/? c.111G>A r.(=) p.(=) g.143999146C>T Copied from the Exome Variant Server CYP11B2_000122 1/13006 1/8600 0/4406
?/? c.124C>T r.(?) p.(Pro42Ser) g.143999133G>A Copied from the Exome Variant Server CYP11B2_000121 1/13006 1/8600 0/4406
?/? c.169A>C r.(=) p.(=) g.143999088T>G Copied from the Exome Variant Server CYP11B2_000120 1/13006 1/8600 0/4406
?/? c.182A>T r.(?) p.(Tyr61Phe) g.143999075T>A Copied from the Exome Variant Server CYP11B2_000119 20/13006 0/8600 20/4406
?/? c.240-47C>T r.(=) p.(=) g.143998677G>A Copied from the Exome Variant Server CYP11B2_000118 334/13006 272/8600 62/4406
?/? c.240-32C>T r.(=) p.(=) g.143998662G>A Copied from the Exome Variant Server CYP11B2_000117 4147/13006 3742/8600 405/4406
?/? c.240-9del r.(=) p.(=) g.143998639del Copied from the Exome Variant Server CYP11B2_000116 2/12518 2/8254 0/4264
?/? c.256C>G r.(?) p.(Pro86Ala) g.143998614G>C Copied from the Exome Variant Server CYP11B2_000115 1/13006 0/8600 1/4406
?/? c.259C>G r.(?) p.(Arg87Gly) g.143998611G>C Copied from the Exome Variant Server CYP11B2_000114 1/13006 0/8600 1/4406
?/? c.281C>T r.(?) p.(Pro94Leu) g.143998589G>A Copied from the Exome Variant Server CYP11B2_000113 1/13006 1/8600 0/4406
?/? c.282G>A r.(=) p.(=) g.143998588C>T Copied from the Exome Variant Server CYP11B2_000112 14/13006 0/8600 14/4406
?/? c.384C>T r.(=) p.(=) g.143998486G>A Copied from the Exome Variant Server CYP11B2_000111 1/13006 0/8600 1/4406
?/? c.385G>A r.(?) p.(Val129Met) g.143998485C>T Copied from the Exome Variant Server CYP11B2_000110 1/13006 1/8600 0/4406
?/? c.395+37G>A r.(=) p.(=) g.143998438C>T Copied from the Exome Variant Server CYP11B2_000109 1/13006 0/8600 1/4406
?/? c.395+49G>A r.(=) p.(=) g.143998426C>T Copied from the Exome Variant Server CYP11B2_000108 4123/13006 3721/8600 402/4406
?/? c.396-46G>T r.(=) p.(=) g.143996707C>A Copied from the Exome Variant Server CYP11B2_000107 28/12912 27/8536 1/4376
?/? c.396-33G>A r.(=) p.(=) g.143996694C>T Copied from the Exome Variant Server CYP11B2_000106 1/12970 1/8572 0/4398
?/? c.396-31G>A r.(=) p.(=) g.143996692C>T Copied from the Exome Variant Server CYP11B2_000105 1/12982 0/8582 1/4400
?/? c.396-22A>G r.(=) p.(=) g.143996683T>C Copied from the Exome Variant Server CYP11B2_000104 1409/12988 20/8588 1389/4400
?/? c.413G>A r.(?) p.(Arg138His) g.143996644C>T Copied from the Exome Variant Server CYP11B2_000103 2/13006 2/8600 0/4406
?/? c.414C>T r.(=) p.(=) g.143996643G>A Copied from the Exome Variant Server CYP11B2_000102 2/13006 0/8600 2/4406
?/? c.435C>T r.(=) p.(=) g.143996622G>A Copied from the Exome Variant Server CYP11B2_000101 2/13006 1/8600 1/4406
?/? c.441T>A r.(?) p.(Asp147Glu) g.143996616A>T Copied from the Exome Variant Server CYP11B2_000100 4/13006 4/8600 0/4406
?/? c.449_450insTGTC r.(?) p.(Pro151Valfs*109) g.143996607_143996608insGACA Copied from the Exome Variant Server CYP11B2_000099 1/12518 0/8254 1/4264
?/? c.459C>T r.(=) p.(=) g.143996598G>A Copied from the Exome Variant Server CYP11B2_000098 1/13006 1/8600 0/4406
?/? c.477G>A r.(=) p.(=) g.143996580C>T Copied from the Exome Variant Server CYP11B2_000097 4/13006 3/8600 1/4406
?/? c.504C>T r.(=) p.(=) g.143996553G>A Copied from the Exome Variant Server CYP11B2_000096 4882/13002 3861/8596 1021/4406
?/? c.517A>G r.(?) p.(Lys173Glu) g.143996540T>C Copied from the Exome Variant Server CYP11B2_000095 1/12998 1/8592 0/4406
?/? c.518A>G r.(?) p.(Lys173Arg) g.143996539T>C Copied from the Exome Variant Server CYP11B2_000094 4895/12998 3857/8592 1038/4406
?/? c.531G>A r.(=) p.(=) g.143996526C>T Copied from the Exome Variant Server CYP11B2_000093 1/12994 1/8588 0/4406
?/? c.595+13C>T r.(=) p.(=) g.143996449G>A Copied from the Exome Variant Server CYP11B2_000092 1/13006 0/8600 1/4406
?/? c.595+14G>A r.(=) p.(=) g.143996448C>T Copied from the Exome Variant Server CYP11B2_000091 15/13006 0/8600 15/4406
?/? c.595+28C>T r.(=) p.(=) g.143996434G>A Copied from the Exome Variant Server CYP11B2_000090 2/13006 2/8600 0/4406
?/? c.595+29C>T r.(=) p.(=) g.143996433G>A Copied from the Exome Variant Server CYP11B2_000089 4/13006 4/8600 0/4406
?/? c.595+43T>C r.(=) p.(=) g.143996419A>G Copied from the Exome Variant Server CYP11B2_000088 2/13006 1/8600 1/4406
?/? c.596-43G>A r.(=) p.(=) g.143996367C>T Copied from the Exome Variant Server CYP11B2_000087 2/13004 0/8598 2/4406
?/? c.596-41C>T r.(=) p.(=) g.143996365G>A Copied from the Exome Variant Server CYP11B2_000086 402/13004 364/8598 38/4406
?/? c.596-39T>C r.(=) p.(=) g.143996363A>G Copied from the Exome Variant Server CYP11B2_000085 449/13002 395/8596 54/4406
?/? c.596-4G>A r.spl? p.? g.143996328C>T Copied from the Exome Variant Server CYP11B2_000084 1/13004 0/8598 1/4406
?/? c.630_637del r.(?) p.(Leu211Profs*45) g.143996283_143996290del Copied from the Exome Variant Server CYP11B2_000083 4/12512 3/8248 1/4264
?/? c.674A>G r.(?) p.(His225Arg) g.143996246T>C Copied from the Exome Variant Server CYP11B2_000082 2/12998 2/8592 0/4406
?/? c.675T>C r.(=) p.(=) g.143996245A>G Copied from the Exome Variant Server CYP11B2_000081 1/12998 1/8592 0/4406
?/? c.679C>T r.(=) p.(=) g.143996241G>A Copied from the Exome Variant Server CYP11B2_000080 23/12998 0/8592 23/4406
?/? c.683A>G r.(?) p.(Glu228Gly) g.143996237T>C Copied from the Exome Variant Server CYP11B2_000079 1/12998 1/8592 0/4406
?/? c.703G>A r.(?) p.(Val235Ile) g.143996217C>T Copied from the Exome Variant Server CYP11B2_000078 6/13004 2/8598 4/4406
?/? c.728G>A r.(?) p.(Ser243Asn) g.143996192C>T Copied from the Exome Variant Server CYP11B2_000077 1/13006 1/8600 0/4406
?/? c.737G>A r.(?) p.(Arg246His) g.143996183C>T Copied from the Exome Variant Server CYP11B2_000076 1/13004 0/8600 1/4404
?/? c.763G>T r.(?) p.(Glu255*) g.143996157C>A Copied from the Exome Variant Server CYP11B2_000075 1/13004 1/8600 0/4404
?/? c.786C>T r.(=) p.(=) g.143996134G>A Copied from the Exome Variant Server CYP11B2_000074 1/12996 1/8594 0/4402
?/? c.798C>T r.(=) p.(=) g.143996122G>A Copied from the Exome Variant Server CYP11B2_000073 42/12978 0/8582 42/4396
?/? c.799+17G>A r.(=) p.(=) g.143996104C>T Copied from the Exome Variant Server CYP11B2_000072 44/12934 0/8562 44/4372
?/? c.800-50G>A r.(=) p.(=) g.143995884C>T Copied from the Exome Variant Server CYP11B2_000071 1/13004 1/8598 0/4406
?/? c.800-46C>T r.(=) p.(=) g.143995880G>A Copied from the Exome Variant Server CYP11B2_000070 1540/13004 54/8598 1486/4406
?/? c.800-33A>C r.(=) p.(=) g.143995867T>G Copied from the Exome Variant Server CYP11B2_000069 1/13002 1/8596 0/4406
?/? c.800-19T>C r.(=) p.(=) g.143995853A>G Copied from the Exome Variant Server CYP11B2_000068 9/13004 0/8598 9/4406
?/? c.800-8C>T r.(=) p.(=) g.143995842G>A Copied from the Exome Variant Server CYP11B2_000067 2/13006 2/8600 0/4406
?/? c.842A>G r.(?) p.(Asn281Ser) g.143995792T>C Copied from the Exome Variant Server CYP11B2_000066 108/13006 1/8600 107/4406
?/? c.873G>A r.(=) p.(=) g.143995761C>T Copied from the Exome Variant Server CYP11B2_000065 12607/13006 8422/8600 4185/4406
?/? c.891G>A r.(=) p.(=) g.143995743C>T Copied from the Exome Variant Server CYP11B2_000064 1703/13006 753/8600 950/4406
?/? c.944G>T r.(?) p.(Ser315Ile) g.143995690C>A Copied from the Exome Variant Server CYP11B2_000063 1/13006 0/8600 1/4406
?/? c.946G>A r.(?) p.(Val316Met) g.143995688C>T Copied from the Exome Variant Server CYP11B2_000062 1/13006 1/8600 0/4406
?/? c.951C>A r.(?) p.(Asp317Glu) g.143995683G>T Copied from the Exome Variant Server CYP11B2_000061 1/13006 0/8600 1/4406
?/? c.954+6G>A r.(=) p.(=) g.143995674C>T Copied from the Exome Variant Server CYP11B2_000060 1/13006 1/8600 0/4406
?/? c.955-50G>C r.(=) p.(=) g.143994917C>G Copied from the Exome Variant Server CYP11B2_000059 1/13006 1/8600 0/4406
?/? c.955-27C>T r.(=) p.(=) g.143994894G>A Copied from the Exome Variant Server CYP11B2_000058 1/13006 0/8600 1/4406
?/? c.959C>T r.(?) p.(Ala320Val) g.143994863G>A Copied from the Exome Variant Server CYP11B2_000057 1/13006 1/8600 0/4406
?/? c.961T>A r.(?) p.(Phe321Ile) g.143994861A>T Copied from the Exome Variant Server CYP11B2_000056 1/13006 0/8600 1/4406
?/? c.968T>C r.(?) p.(Leu323Ser) g.143994854A>G Copied from the Exome Variant Server CYP11B2_000055 1/13006 1/8600 0/4406
?/? c.972G>A r.(=) p.(=) g.143994850C>T Copied from the Exome Variant Server CYP11B2_000054 1/13006 1/8600 0/4406
?/? c.977C>T r.(?) p.(Thr326Met) g.143994845G>A Copied from the Exome Variant Server CYP11B2_000053 1/13006 0/8600 1/4406
?/? c.978G>A r.(=) p.(=) g.143994844C>T Copied from the Exome Variant Server CYP11B2_000052 1/13006 1/8600 0/4406
?/? c.1000C>A r.(?) p.(Pro334Thr) g.143994822G>T Copied from the Exome Variant Server CYP11B2_000051 1/13006 1/8600 0/4406
?/? c.1002C>T r.(=) p.(=) g.143994820G>A Copied from the Exome Variant Server CYP11B2_000050 2/13006 1/8600 1/4406
?/? c.1003G>A r.(?) p.(Asp335Asn) g.143994819C>T Copied from the Exome Variant Server CYP11B2_000049 1/13006 1/8600 0/4406
?/? c.1006G>A r.(?) p.(Val336Met) g.143994816C>T Copied from the Exome Variant Server CYP11B2_000048 3/13006 3/8600 0/4406
?/? c.1015A>G r.(?) p.(Ile339Val) g.143994807T>C Copied from the Exome Variant Server CYP11B2_000047 27/13006 0/8600 27/4406
?/? c.1016T>C r.(?) p.(Ile339Thr) g.143994806A>G Copied from the Exome Variant Server CYP11B2_000046 1720/13006 55/8600 1665/4406
?/? c.1022G>A r.(?) p.(Arg341His) g.143994800C>T Copied from the Exome Variant Server CYP11B2_000045 2/13006 0/8600 2/4406
?/? c.1027G>A r.(?) p.(Glu343Lys) g.143994795C>T Copied from the Exome Variant Server CYP11B2_000044 1/13006 1/8600 0/4406
?/? c.1032C>T r.(=) p.(=) g.143994790G>A Copied from the Exome Variant Server CYP11B2_000043 1/13006 0/8600 1/4406
?/? c.1041C>T r.(=) p.(=) g.143994781G>A Copied from the Exome Variant Server CYP11B2_000042 1/12998 0/8594 1/4404
?/? c.1080C>T r.(=) p.(=) g.143994742G>A Copied from the Exome Variant Server CYP11B2_000040 106/13006 1/8600 105/4406
?/? c.1095G>A r.(=) p.(=) g.143994727C>T Copied from the Exome Variant Server CYP11B2_000038 1/13006 1/8600 0/4406
?/? c.1096C>T r.(?) p.(Arg366Trp) g.143994726G>A Copied from the Exome Variant Server CYP11B2_000041 1/13006 0/8600 1/4406
?/? c.1100C>T r.(?) p.(Ala367Val) g.143994722G>A Copied from the Exome Variant Server CYP11B2_000039 1/13006 1/8600 0/4406
?/? c.1101G>A r.(=) p.(=) g.143994721C>T Copied from the Exome Variant Server CYP11B2_000037 1/13006 1/8600 0/4406
?/? c.1120C>A r.(=) p.(=) g.143994702G>T Copied from the Exome Variant Server CYP11B2_000036 6944/13000 4778/8594 2166/4406
?/? c.1122-41A>G r.(=) p.(=) g.143994342T>C Copied from the Exome Variant Server CYP11B2_000035 156/12994 4/8594 152/4400
?/? c.1122-27C>G r.(=) p.(=) g.143994328G>C Copied from the Exome Variant Server CYP11B2_000034 1/12994 1/8590 0/4404
?/? c.1122-10C>T r.(=) p.(=) g.143994311G>A Copied from the Exome Variant Server CYP11B2_000033 58/13004 1/8598 57/4406
?/? c.1157T>C r.(?) p.(Val386Ala) g.143994266A>G Copied from the Exome Variant Server CYP11B2_000032 940/13006 821/8600 119/4406
?/? c.1160G>T r.(?) p.(Ser387Ile) g.143994263C>A Copied from the Exome Variant Server CYP11B2_000031 2/13006 0/8600 2/4406
?/? c.1170G>A r.(=) p.(=) g.143994253C>T Copied from the Exome Variant Server CYP11B2_000030 1514/13006 55/8600 1459/4406
Legend   « First ‹ Prev     1 2     Next › Last »