All transcript variants in gene DDB2

Information The variants shown are described using the NM_000107.2 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-47C>T r.(=) p.(=) g.47236641C>T Copied from the Exome Variant Server DDB2_000001 2/12998 1/8596 1/4402
?/? c.-36G>A r.(=) p.(=) g.47236652G>A Copied from the Exome Variant Server DDB2_000002 2/12998 2/8596 0/4402
?/? c.-31G>C r.(=) p.(=) g.47236657G>C Copied from the Exome Variant Server DDB2_000003 3/12998 3/8596 0/4402
?/? c.-21C>T r.(=) p.(=) g.47236667C>T Copied from the Exome Variant Server DDB2_000004 1/12998 1/8596 0/4402
?/? c.-14_-13insGAAG r.(=) p.(=) g.47236674_47236675insGAAG Copied from the Exome Variant Server DDB2_000005 11/12518 0/8254 11/4264
?/? c.-10G>C r.(=) p.(=) g.47236678G>C Copied from the Exome Variant Server DDB2_000006 2/12998 0/8596 2/4402
?/? c.-9G>A r.(=) p.(=) g.47236679G>A Copied from the Exome Variant Server DDB2_000007 1/12998 1/8596 0/4402
?/? c.20C>T r.(?) p.(Pro7Leu) g.47236707C>T Copied from the Exome Variant Server DDB2_000008 1/12998 1/8596 0/4402
?/? c.59G>A r.(?) p.(Arg20Lys) g.47236746G>A Copied from the Exome Variant Server DDB2_000009 2/12998 2/8596 0/4402
?/? c.79C>A r.(?) p.(Pro27Thr) g.47236766C>A Copied from the Exome Variant Server DDB2_000010 3/12998 0/8596 3/4402
?/? c.127+5T>G r.spl? p.? g.47236819T>G Copied from the Exome Variant Server DDB2_000011 10/12998 10/8596 0/4402
?/? c.128-46C>G r.(=) p.(=) g.47237841C>G Copied from the Exome Variant Server DDB2_000013 1/12998 0/8596 1/4402
?/? c.128-8C>T r.(=) p.(=) g.47237879C>T Copied from the Exome Variant Server DDB2_000015 1/12998 0/8596 1/4402
?/? c.200G>A r.(?) p.(Arg67His) g.47237959G>A Copied from the Exome Variant Server DDB2_000017 2/12998 2/8596 0/4402
?/? c.264+8A>G r.(=) p.(=) g.47238031A>G Copied from the Exome Variant Server DDB2_000019 1/12998 1/8596 0/4402
?/? c.265-24C>T r.(=) p.(=) g.47238385C>T Copied from the Exome Variant Server DDB2_000021 1/12996 1/8594 0/4402
?/? c.265-7G>C r.(=) p.(=) g.47238402G>C Copied from the Exome Variant Server DDB2_000023 1/12996 1/8596 0/4400
?/? c.281T>G r.(?) p.(Phe94Cys) g.47238425T>G Copied from the Exome Variant Server DDB2_000025 1/12998 1/8596 0/4402
?/? c.378T>C N/A N/A g.47238522T>C Copied from the Exome Variant Server DDB2_000027 12937/12998 8596/8596 4341/4402
?/? c.398G>C r.(?) p.(Gly133Ala) g.47238542G>C Copied from the Exome Variant Server DDB2_000029 1/12998 1/8596 0/4402
?/? c.450C>A r.(=) p.(=) g.47238594C>A Copied from the Exome Variant Server DDB2_000031 1/12998 0/8596 1/4402
?/? c.456+42G>C r.(=) p.(=) g.47238642G>C Copied from the Exome Variant Server DDB2_000032 1/12998 0/8596 1/4402
?/? c.457-2996del r.(=) p.(=) g.47251369del Copied from the Exome Variant Server DDB2_000012 688/5134 492/3542 196/1592
?/? c.457-47C>T r.(=) p.(=) g.47254318C>T Copied from the Exome Variant Server DDB2_000014 4/12998 4/8596 0/4402
?/? c.457-24T>C r.(=) p.(=) g.47254341T>C Copied from the Exome Variant Server DDB2_000016 1/12998 0/8596 1/4402
?/? c.457-7G>A r.(=) p.(=) g.47254358G>A Copied from the Exome Variant Server DDB2_000018 1/12998 1/8596 0/4402
?/? c.474C>T r.(=) p.(=) g.47254382C>T Copied from the Exome Variant Server DDB2_000020 1/12998 1/8596 0/4402
?/? c.602+9T>C r.(=) p.(=) g.47254519T>C Copied from the Exome Variant Server DDB2_000022 1/12998 0/8596 1/4402
?/? c.602+20G>A r.(=) p.(=) g.47254530G>A Copied from the Exome Variant Server DDB2_000024 36/12998 1/8596 35/4402
?/? c.602+37G>A r.(=) p.(=) g.47254547G>A Copied from the Exome Variant Server DDB2_000026 1/12998 1/8596 0/4402
?/? c.602+52C>T r.(=) p.(=) g.47254562C>T Copied from the Exome Variant Server DDB2_000028 4/7272 0/4618 4/2654
?/? c.640C>T r.(?) p.(Arg214*) g.47256161C>T Copied from the Exome Variant Server DDB2_000030 2/12998 2/8596 0/4402
?/? c.641G>A r.(?) p.(Arg214Gln) g.47256162G>A Copied from the Exome Variant Server DDB2_000033 1/12998 1/8596 0/4402
?/? c.644T>C r.(?) p.(Met215Thr) g.47256165T>C Copied from the Exome Variant Server DDB2_000034 17/12998 0/8596 17/4402
?/? c.674T>C r.(?) p.(Val225Ala) g.47256195T>C Copied from the Exome Variant Server DDB2_000035 1/12998 0/8596 1/4402
?/? c.696C>T r.(=) p.(=) g.47256217C>T Copied from the Exome Variant Server DDB2_000036 1/12998 1/8596 0/4402
?/? c.702+4C>T r.spl? p.? g.47256227C>T Copied from the Exome Variant Server DDB2_000037 1/12998 0/8596 1/4402
?/? c.702+12G>C r.(=) p.(=) g.47256235G>C Copied from the Exome Variant Server DDB2_000038 19/12998 0/8596 19/4402
?/? c.702+37C>T r.(=) p.(=) g.47256260C>T Copied from the Exome Variant Server DDB2_000039 1/12998 1/8596 0/4402
?/? c.703-39G>A r.(=) p.(=) g.47256269G>A Copied from the Exome Variant Server DDB2_000040 1/12998 1/8596 0/4402
?/? c.737C>A r.(?) p.(Thr246Lys) g.47256342C>A Copied from the Exome Variant Server DDB2_000041 1/12998 1/8596 0/4402
?/? c.738G>A r.(=) p.(=) g.47256343G>A Copied from the Exome Variant Server DDB2_000042 31/12998 31/8596 0/4402
?/? c.857C>T r.(?) p.(Pro286Leu) g.47256462C>T Copied from the Exome Variant Server DDB2_000043 3/12998 1/8596 2/4402
?/? c.862A>G r.(?) p.(Arg288Gly) g.47256467A>G Copied from the Exome Variant Server DDB2_000044 1/12998 0/8596 1/4402
?/? c.870T>C r.(=) p.(=) g.47256475T>C Copied from the Exome Variant Server DDB2_000045 1/12998 1/8596 0/4402
?/? c.880+8A>C r.(=) p.(=) g.47256493A>C Copied from the Exome Variant Server DDB2_000046 1/12998 1/8596 0/4402
?/? c.880+40C>G r.(=) p.(=) g.47256525C>G Copied from the Exome Variant Server DDB2_000047 6/12960 6/8568 0/4392
?/? c.880+51C>T r.(=) p.(=) g.47256536C>T Copied from the Exome Variant Server DDB2_000048 1/12906 0/8528 1/4378
?/? c.881-28T>A r.(=) p.(=) g.47256793T>A Copied from the Exome Variant Server DDB2_000049 1/12998 1/8596 0/4402
?/? c.894C>T r.(=) p.(=) g.47256834C>T Copied from the Exome Variant Server DDB2_000050 1/12998 1/8596 0/4402
?/? c.918G>A r.(=) p.(=) g.47256858G>A Copied from the Exome Variant Server DDB2_000051 3/12998 0/8596 3/4402
?/? c.947C>T r.(?) p.(Ser316Phe) g.47256887C>T Copied from the Exome Variant Server DDB2_000052 1/12998 1/8596 0/4402
?/? c.956A>G r.(?) p.(Gln319Arg) g.47256896A>G Copied from the Exome Variant Server DDB2_000053 1/12998 1/8596 0/4402
?/? c.983C>T r.(?) p.(Pro328Leu) g.47256923C>T Copied from the Exome Variant Server DDB2_000054 1/12998 1/8596 0/4402
?/? c.984G>A r.(=) p.(=) g.47256924G>A Copied from the Exome Variant Server DDB2_000055 4/12998 4/8596 0/4402
?/? c.1023+9C>T r.(=) p.(=) g.47256972C>T Copied from the Exome Variant Server DDB2_000056 1/12998 0/8596 1/4402
?/? c.1023+24C>T r.(=) p.(=) g.47256987C>T Copied from the Exome Variant Server DDB2_000057 1/12998 1/8596 0/4402
?/? c.1023+34G>A r.(=) p.(=) g.47256997G>A Copied from the Exome Variant Server DDB2_000058 1/12998 1/8596 0/4402
?/? c.1024-29C>T r.(=) p.(=) g.47259359C>T Copied from the Exome Variant Server DDB2_000059 1/12998 0/8596 1/4402
?/? c.1024-27C>T r.(=) p.(=) g.47259361C>T Copied from the Exome Variant Server DDB2_000060 2/12998 2/8596 0/4402
?/? c.1039C>T r.(?) p.(Arg347Cys) g.47259403C>T Copied from the Exome Variant Server DDB2_000061 2/12998 2/8596 0/4402
?/? c.1051_1053del r.(?) p.(Ile351del) g.47259415_47259417del Copied from the Exome Variant Server DDB2_000063 1/12518 1/8254 0/4264
?/? c.1053T>C r.(=) p.(=) g.47259417T>C Copied from the Exome Variant Server DDB2_000065 7/12998 7/8596 0/4402
?/? c.1113G>A r.(=) p.(=) g.47259477G>A Copied from the Exome Variant Server DDB2_000067 1/12998 1/8596 0/4402
?/? c.1120G>A r.(?) p.(Val374Met) g.47259484G>A Copied from the Exome Variant Server DDB2_000069 4/12998 0/8596 4/4402
?/? c.1126G>A r.(?) p.(Asp376Asn) g.47259490G>A Copied from the Exome Variant Server DDB2_000071 1/12998 1/8596 0/4402
?/? c.1188+8T>C r.(=) p.(=) g.47259560T>C Copied from the Exome Variant Server DDB2_000073 2/12998 0/8596 2/4402
?/? c.1188+49C>G r.(=) p.(=) g.47259601C>G Copied from the Exome Variant Server DDB2_000075 1/12998 0/8596 1/4402
?/? c.1188+61del r.(=) p.(=) g.47259613del Copied from the Exome Variant Server DDB2_000076 21/12518 13/8254 8/4264
?/? c.1189-60A>G r.(=) p.(=) g.47259629A>G Copied from the Exome Variant Server DDB2_000077 1/4566 1/3182 0/1384
?/? c.1189-21T>C r.(=) p.(=) g.47259668T>C Copied from the Exome Variant Server DDB2_000078 7811/12998 6090/8596 1721/4402
?/? c.1228G>A r.(?) p.(Ala410Thr) g.47259728G>A Copied from the Exome Variant Server DDB2_000079 47/12998 43/8596 4/4402
?/? c.1234+12G>A r.(=) p.(=) g.47259746G>A Copied from the Exome Variant Server DDB2_000062 1/12998 0/8596 1/4402
?/? c.1234+24G>C r.(=) p.(=) g.47259758G>C Copied from the Exome Variant Server DDB2_000064 1/12998 1/8596 0/4402
?/? c.1234+62C>T r.(=) p.(=) g.47259796C>T Copied from the Exome Variant Server DDB2_000066 1/4566 0/3182 1/1384
?/? c.1235-32A>G r.(=) p.(=) g.47260319A>G Copied from the Exome Variant Server DDB2_000068 4967/12998 2492/8596 2475/4402
?/? c.1278G>T r.(=) p.(=) g.47260394G>T Copied from the Exome Variant Server DDB2_000070 1/12998 1/8596 0/4402
?/? c.*50G>A r.(=) p.(=) g.47260450G>A Copied from the Exome Variant Server DDB2_000072 1/12998 0/8596 1/4402
?/? c.*77C>T r.(=) p.(=) g.47260477C>T Copied from the Exome Variant Server DDB2_000074 154/4566 120/3182 34/1384
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