All transcript variants in gene CD46

Information The variants shown are described using the NM_172361.2 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-11C>A r.(=) p.(=) g.207925547C>A Copied from the Exome Variant Server CD46_000001 39/13006 0/8600 39/4406
?/? c.11C>G r.(?) p.(Pro4Arg) g.207925568C>G Copied from the Exome Variant Server CD46_000002 1/13006 1/8600 0/4406
?/? c.38C>T r.(?) p.(Ser13Phe) g.207925595C>T Copied from the Exome Variant Server CD46_000003 19/13006 1/8600 18/4406
?/? c.97+33G>A r.(=) p.(=) g.207925687G>A Copied from the Exome Variant Server CD46_000005 1/13004 0/8598 1/4406
?/? c.97+42G>C r.(=) p.(=) g.207925696G>C Copied from the Exome Variant Server CD46_000007 1/13004 1/8598 0/4406
?/? c.97+47C>T r.(=) p.(=) g.207925701C>T Copied from the Exome Variant Server CD46_000009 53/13002 0/8598 53/4404
?/? c.198A>T r.(?) p.(Lys66Asn) g.207930459A>T Copied from the Exome Variant Server CD46_000010 5/13006 5/8600 0/4406
?/? c.276C>T r.(=) p.(=) g.207930537C>T Copied from the Exome Variant Server CD46_000012 3/13006 3/8600 0/4406
?/? c.285T>C r.(=) p.(=) g.207930546T>C Copied from the Exome Variant Server CD46_000014 27/13006 6/8600 21/4406
?/? c.286+18del r.(=) p.(=) g.207930565del Copied from the Exome Variant Server CD46_000018 249/12520 154/8254 95/4266
?/? c.286+18dup r.(=) p.(=) g.207930565dup Copied from the Exome Variant Server CD46_000017 210/12520 95/8254 115/4266
?/? c.286+49A>G r.(=) p.(=) g.207930596A>G Copied from the Exome Variant Server CD46_000020 293/12996 1/8594 292/4402
?/? c.287-48A>G r.(=) p.(=) g.207930837A>G Copied from the Exome Variant Server CD46_000004 1/12840 1/8514 0/4326
?/? c.287-43T>C r.(=) p.(=) g.207930842T>C Copied from the Exome Variant Server CD46_000006 2/12882 2/8546 0/4336
?/? c.370C>T r.(?) p.(His124Tyr) g.207930968C>T Copied from the Exome Variant Server CD46_000008 1/13006 1/8600 0/4406
?/? c.389+44T>A r.(=) p.(=) g.207931031T>A Copied from the Exome Variant Server CD46_000011 3/12988 0/8582 3/4406
?/? c.390-22del r.(=) p.(=) g.207932962del Copied from the Exome Variant Server CD46_000013 133/12472 49/8224 84/4248
?/? c.417A>G r.(=) p.(=) g.207933011A>G Copied from the Exome Variant Server CD46_000015 79/12990 74/8584 5/4406
?/? c.424G>C r.(?) p.(Glu142Gln) g.207933018G>C Copied from the Exome Variant Server CD46_000016 1/12994 1/8588 0/4406
?/? c.453C>T r.(=) p.(=) g.207933047C>T Copied from the Exome Variant Server CD46_000019 45/12998 11/8592 34/4406
?/? c.454G>A r.(?) p.(Gly152Ser) g.207933048G>A Copied from the Exome Variant Server CD46_000021 1/12998 1/8592 0/4406
?/? c.476-46G>A r.(=) p.(=) g.207934548G>A Copied from the Exome Variant Server CD46_000022 1/12894 0/8552 1/4342
?/? c.476-41A>T r.(=) p.(=) g.207934553A>T Copied from the Exome Variant Server CD46_000023 597/12914 542/8566 55/4348
?/? c.476-36T>G r.(=) p.(=) g.207934558T>G Copied from the Exome Variant Server CD46_000024 1/12930 1/8578 0/4352
?/? c.476-26C>G r.(=) p.(=) g.207934568C>G Copied from the Exome Variant Server CD46_000025 2/12974 0/8590 2/4384
?/? c.476-8del r.(=) p.(=) g.207934586del Copied from the Exome Variant Server CD46_000026 3/12508 3/8252 0/4256
?/? c.523T>G r.(?) p.(Phe175Val) g.207934641T>G Copied from the Exome Variant Server CD46_000027 3/13006 3/8600 0/4406
?/? c.553G>A r.(?) p.(Asp185Asn) g.207934671G>A Copied from the Exome Variant Server CD46_000028 2/13006 2/8600 0/4406
?/? c.577C>T r.(?) p.(Pro193Ser) g.207934695C>T Copied from the Exome Variant Server CD46_000029 1/13006 1/8600 0/4406
?/? c.635A>T r.(?) p.(Asp212Val) g.207934753A>T Copied from the Exome Variant Server CD46_000030 1/13006 1/8600 0/4406
?/? c.674-37G>A r.(=) p.(=) g.207940321G>A Copied from the Exome Variant Server CD46_000031 1/12960 0/8592 1/4368
?/? c.786C>T r.(=) p.(=) g.207940470C>T Copied from the Exome Variant Server CD46_000032 1/13006 0/8600 1/4406
?/? c.787G>A r.(?) p.(Asp263Asn) g.207940471G>A Copied from the Exome Variant Server CD46_000033 1/13006 1/8600 0/4406
?/? c.796G>A r.(?) p.(Asp266Asn) g.207940480G>A Copied from the Exome Variant Server CD46_000034 54/13006 0/8600 54/4406
?/? c.856+37_856+39del r.(=) p.(=) g.207940577_207940579del Copied from the Exome Variant Server CD46_000035 2/12518 2/8252 0/4266
?/? c.856+51C>G r.(=) p.(=) g.207940591C>G Copied from the Exome Variant Server CD46_000036 1/13002 1/8596 0/4406
?/? c.856+365C>T r.(=) p.(=) g.207940905C>T Copied from the Exome Variant Server CD46_000037 1/13006 1/8600 0/4406
?/? c.856+376A>G r.(=) p.(=) g.207940916A>G Copied from the Exome Variant Server CD46_000038 54/13006 0/8600 54/4406
?/? c.856+379T>C r.(=) p.(=) g.207940919T>C Copied from the Exome Variant Server CD46_000040 1/13006 1/8600 0/4406
?/? c.856+385A>G r.(=) p.(=) g.207940925A>G Copied from the Exome Variant Server CD46_000042 21/13006 0/8600 21/4406
?/? c.856+392A>T r.(=) p.(=) g.207940932A>T Copied from the Exome Variant Server CD46_000044 1/13006 1/8600 0/4406
?/? c.856+394C>T r.(=) p.(=) g.207940934C>T Copied from the Exome Variant Server CD46_000046 22/13006 1/8600 21/4406
?/? c.856+399T>C r.(=) p.(=) g.207940939T>C Copied from the Exome Variant Server CD46_000048 1/13006 1/8600 0/4406
?/? c.856+462G>A r.(=) p.(=) g.207941002G>A Copied from the Exome Variant Server CD46_000050 1/13006 1/8600 0/4406
?/? c.856+468T>A r.(=) p.(=) g.207941008T>A Copied from the Exome Variant Server CD46_000052 1/13006 0/8600 1/4406
?/? c.856+484T>A r.(=) p.(=) g.207941024T>A Copied from the Exome Variant Server CD46_000054 1/13006 1/8600 0/4406
?/? c.856+583G>A r.(=) p.(=) g.207941123G>A Copied from the Exome Variant Server CD46_000056 1/13006 0/8600 1/4406
?/? c.856+588G>A r.(=) p.(=) g.207941128G>A Copied from the Exome Variant Server CD46_000058 55/13006 0/8600 55/4406
?/? c.856+615G>A r.(=) p.(=) g.207941155G>A Copied from the Exome Variant Server CD46_000059 2/13006 1/8600 1/4406
?/? c.856+637A>G r.(=) p.(=) g.207941177A>G Copied from the Exome Variant Server CD46_000061 1/13006 1/8600 0/4406
?/? c.856+651G>T r.(=) p.(=) g.207941191G>T Copied from the Exome Variant Server CD46_000063 10261/13004 6741/8600 3520/4404
?/? c.856+3077A>G r.(=) p.(=) g.207943617A>G Copied from the Exome Variant Server CD46_000065 1/12942 1/8584 0/4358
?/? c.856+3114T>C r.(=) p.(=) g.207943654T>C Copied from the Exome Variant Server CD46_000067 1/12994 1/8600 0/4394
?/? c.856+3144A>G r.(=) p.(=) g.207943684A>G Copied from the Exome Variant Server CD46_000069 1/13006 1/8600 0/4406
?/? c.856+3147C>T r.(=) p.(=) g.207943687C>T Copied from the Exome Variant Server CD46_000071 1/13006 1/8600 0/4406
?/? c.856+3150C>T r.(=) p.(=) g.207943690C>T Copied from the Exome Variant Server CD46_000073 30/13006 0/8600 30/4406
?/? c.856+3208A>G r.(=) p.(=) g.207943748A>G Copied from the Exome Variant Server CD46_000075 1/12906 1/8578 0/4328
?/? c.857-1G>C r.spl? p.? g.207956636G>C Copied from the Exome Variant Server CD46_000077 3/13006 0/8600 3/4406
?/? c.889A>G r.(?) p.(Ser297Gly) g.207956669A>G Copied from the Exome Variant Server CD46_000079 2/13006 0/8600 2/4406
?/? c.895+48C>T r.(=) p.(=) g.207956723C>T Copied from the Exome Variant Server CD46_000081 1/13002 1/8596 0/4406
?/? c.896-48A>C r.(=) p.(=) g.207958368A>C Copied from the Exome Variant Server CD46_000083 1/13002 0/8598 1/4404
?/? c.896-21T>A r.(=) p.(=) g.207958395T>A Copied from the Exome Variant Server CD46_000084 1/13002 1/8598 0/4404
?/? c.904G>A r.(?) p.(Val302Ile) g.207958424G>A Copied from the Exome Variant Server CD46_000039 1/13002 1/8600 0/4402
?/? c.907A>G r.(?) p.(Ile303Val) g.207958427A>G Copied from the Exome Variant Server CD46_000041 1/13002 0/8600 1/4402
?/? c.926C>T r.(?) p.(Ala309Val) g.207958446C>T Copied from the Exome Variant Server CD46_000043 162/13006 149/8600 13/4406
?/? c.931+33C>A r.(=) p.(=) g.207958484C>A Copied from the Exome Variant Server CD46_000045 1/13006 1/8600 0/4406
?/? c.931+83A>G r.(=) p.(=) g.207958534A>G Copied from the Exome Variant Server CD46_000047 5/4566 0/3182 5/1384
?/? c.932-35G>C r.(=) p.(=) g.207958929G>C Copied from the Exome Variant Server CD46_000049 43/13006 12/8600 31/4406
?/? c.932-25T>A r.(=) p.(=) g.207958939T>A Copied from the Exome Variant Server CD46_000051 1/13006 1/8600 0/4406
?/? c.995+42A>G r.(=) p.(=) g.207959069A>G Copied from the Exome Variant Server CD46_000053 1/13004 1/8598 0/4406
?/? c.995+43T>C r.(=) p.(=) g.207959070T>C Copied from the Exome Variant Server CD46_000055 2022/13004 1824/8598 198/4406
?/? c.996-3331G>A r.(=) p.(=) g.207963533G>A Copied from the Exome Variant Server CD46_000057 3/4566 0/3182 3/1384
?/? c.996-3276C>T r.(=) p.(=) g.207963588C>T Copied from the Exome Variant Server CD46_000060 322/13006 3/8600 319/4406
?/? c.996-3269C>G r.(=) p.(=) g.207963595C>G Copied from the Exome Variant Server CD46_000062 1/13006 1/8600 0/4406
?/? c.996-3246C>T r.(=) p.(=) g.207963618C>T Copied from the Exome Variant Server CD46_000064 7/13006 5/8600 2/4406
?/? c.996-3238G>T r.(=) p.(=) g.207963626G>T Copied from the Exome Variant Server CD46_000066 1/13006 0/8600 1/4406
?/? c.996-3203G>C r.(=) p.(=) g.207963661G>C Copied from the Exome Variant Server CD46_000068 1/13006 1/8600 0/4406
?/? c.996-3169C>T r.(=) p.(=) g.207963695C>T Copied from the Exome Variant Server CD46_000070 1/13004 0/8600 1/4404
?/? c.996-3159_996-3156del r.(=) p.(=) g.207963705_207963708del Copied from the Exome Variant Server CD46_000072 1/12496 1/8244 0/4252
?/? c.996-36T>C r.(=) p.(=) g.207966828T>C Copied from the Exome Variant Server CD46_000074 1/13004 0/8600 1/4404
?/? c.996-4G>C r.spl? p.? g.207966860G>C Copied from the Exome Variant Server CD46_000076 1/13006 1/8600 0/4406
?/? c.1006G>A r.(?) p.(Gly336Ser) g.207966874G>A Copied from the Exome Variant Server CD46_000078 1/13006 1/8600 0/4406
?/? c.1038A>G r.(=) p.(=) g.207966906A>G Copied from the Exome Variant Server CD46_000080 1/13006 1/8600 0/4406
?/? c.1055_1056insGC r.(?) p.(Gln353Argfs*6) g.207966923_207966924insGC Copied from the Exome Variant Server CD46_000082 2/12520 0/8254 2/4266
?/? c.*1A>G r.(=) p.(=) g.207966937A>G Copied from the Exome Variant Server CD46_000085 1/13006 0/8600 1/4406
Legend