All transcript variants in gene NCLN

Information The variants shown are described using the NM_020170.3 transcript reference sequence.

160 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.-40G>A r.(=) p.(=) g.3185989G>A Copied from the Exome Variant Server NCLN_000001 3/12518 3/8264 0/4254
?/? c.-29C>T r.(=) p.(=) g.3186000C>T Copied from the Exome Variant Server NCLN_000002 3/12820 2/8494 1/4326
?/? c.44C>T r.(?) p.(Ala15Val) g.3186072C>T Copied from the Exome Variant Server NCLN_000003 1/13006 1/8600 0/4406
?/? c.57G>T r.(=) p.(=) g.3186085G>T Copied from the Exome Variant Server NCLN_000004 7204/13006 4550/8600 2654/4406
?/? c.82G>A r.(?) p.(Ala28Thr) g.3186110G>A Copied from the Exome Variant Server NCLN_000005 1/12998 1/8596 0/4402
?/? c.135G>A r.(=) p.(=) g.3186163G>A Copied from the Exome Variant Server NCLN_000006 2/12992 2/8592 0/4400
?/? c.138C>T r.(=) p.(=) g.3186166C>T Copied from the Exome Variant Server NCLN_000007 2/12992 2/8592 0/4400
?/? c.147C>T r.(=) p.(=) g.3186175C>T Copied from the Exome Variant Server NCLN_000008 1/12992 0/8592 1/4400
?/? c.184+7G>A r.(=) p.(=) g.3186219G>A Copied from the Exome Variant Server NCLN_000009 1/12918 1/8540 0/4378
?/? c.184+20C>T r.(=) p.(=) g.3186232C>T Copied from the Exome Variant Server NCLN_000010 1/12738 0/8396 1/4342
?/? c.184+25_184+33del r.(=) p.(=) g.3186237_3186245del Copied from the Exome Variant Server NCLN_000011 38/11022 1/7314 37/3708
?/? c.185-23C>T r.(=) p.(=) g.3192445C>T Copied from the Exome Variant Server NCLN_000012 3/12568 0/8324 3/4244
?/? c.191G>C r.(?) p.(Arg64Pro) g.3192474G>C Copied from the Exome Variant Server NCLN_000013 1/12820 1/8478 0/4342
?/? c.216G>T r.(=) p.(=) g.3192499G>T Copied from the Exome Variant Server NCLN_000014 1/12824 1/8470 0/4354
?/? c.242G>A r.(?) p.(Ser81Asn) g.3192525G>A Copied from the Exome Variant Server NCLN_000015 1/12616 1/8322 0/4294
?/? c.324G>T r.(=) p.(=) g.3192607G>T Copied from the Exome Variant Server NCLN_000016 1/12864 1/8512 0/4352
?/? c.351C>T r.(=) p.(=) g.3192634C>T Copied from the Exome Variant Server NCLN_000017 67/12844 0/8496 67/4348
?/? c.354C>T r.(=) p.(=) g.3192637C>T Copied from the Exome Variant Server NCLN_000018 1/12824 0/8488 1/4336
?/? c.360C>T r.(=) p.(=) g.3192643C>T Copied from the Exome Variant Server NCLN_000019 2/12804 2/8474 0/4330
?/? c.367G>A r.(?) p.(Val123Ile) g.3192650G>A Copied from the Exome Variant Server NCLN_000020 1/12740 0/8446 1/4294
?/? c.373C>T r.(?) p.(Arg125Trp) g.3192656C>T Copied from the Exome Variant Server NCLN_000021 1/12682 1/8398 0/4284
?/? c.374G>A r.(?) p.(Arg125Gln) g.3192657G>A Copied from the Exome Variant Server NCLN_000022 7/12650 1/8376 6/4274
?/? c.375+47G>A r.(=) p.(=) g.3192705G>A Copied from the Exome Variant Server NCLN_000023 7/12016 2/7978 5/4038
?/? c.376-41C>A r.(=) p.(=) g.3193241C>A Copied from the Exome Variant Server NCLN_000024 2/13004 0/8598 2/4406
?/? c.376-35G>A r.(=) p.(=) g.3193247G>A Copied from the Exome Variant Server NCLN_000025 1/13006 0/8600 1/4406
?/? c.382A>G r.(?) p.(Met128Val) g.3193288A>G Copied from the Exome Variant Server NCLN_000026 1/13006 1/8600 0/4406
?/? c.390C>T r.(=) p.(=) g.3193296C>T Copied from the Exome Variant Server NCLN_000027 64/13006 3/8600 61/4406
?/? c.396G>A r.(=) p.(=) g.3193302G>A Copied from the Exome Variant Server NCLN_000028 1/13006 1/8600 0/4406
?/? c.417C>A r.(=) p.(=) g.3193323C>A Copied from the Exome Variant Server NCLN_000029 13/13006 0/8600 13/4406
?/? c.418G>A r.(?) p.(Ala140Thr) g.3193324G>A Copied from the Exome Variant Server NCLN_000030 1/13006 1/8600 0/4406
?/? c.469A>C r.(?) p.(Lys157Gln) g.3193375A>C Copied from the Exome Variant Server NCLN_000031 5/13006 5/8600 0/4406
?/? c.470A>G r.(?) p.(Lys157Arg) g.3193376A>G Copied from the Exome Variant Server NCLN_000032 1/13006 1/8600 0/4406
?/? c.504C>T r.(=) p.(=) g.3193410C>T Copied from the Exome Variant Server NCLN_000033 1/13000 1/8596 0/4404
?/? c.520+22C>T r.(=) p.(=) g.3193448C>T Copied from the Exome Variant Server NCLN_000034 1/13002 0/8600 1/4402
?/? c.520+30G>A r.(=) p.(=) g.3193456G>A Copied from the Exome Variant Server NCLN_000035 1/12996 1/8596 0/4400
?/? c.520+51C>T r.(=) p.(=) g.3193477C>T Copied from the Exome Variant Server NCLN_000036 378/12992 2/8596 376/4396
?/? c.521-12del r.(=) p.(=) g.3196169del Copied from the Exome Variant Server NCLN_000037 687/12134 127/7986 560/4148
?/? c.603T>G r.(?) p.(Ile201Met) g.3196263T>G Copied from the Exome Variant Server NCLN_000038 1/12688 1/8390 0/4298
?/? c.615+10G>A r.(=) p.(=) g.3196285G>A Copied from the Exome Variant Server NCLN_000039 66/12586 1/8348 65/4238
?/? c.615+25A>T r.(=) p.(=) g.3196300A>T Copied from the Exome Variant Server NCLN_000040 1/12416 0/8264 1/4152
?/? c.615+33G>A r.(=) p.(=) g.3196308G>A Copied from the Exome Variant Server NCLN_000041 93/12234 55/8152 38/4082
?/? c.616-60C>T r.(=) p.(=) g.3198755C>T Copied from the Exome Variant Server NCLN_000042 570/4566 517/3182 53/1384
?/? c.616-41C>G r.(=) p.(=) g.3198774C>G Copied from the Exome Variant Server NCLN_000043 1/13006 1/8600 0/4406
?/? c.616-38A>G r.(=) p.(=) g.3198777A>G Copied from the Exome Variant Server NCLN_000044 5548/13006 3526/8600 2022/4406
?/? c.616-25C>G r.(=) p.(=) g.3198790C>G Copied from the Exome Variant Server NCLN_000045 10/13006 0/8600 10/4406
?/? c.616-12C>G r.(=) p.(=) g.3198803C>G Copied from the Exome Variant Server NCLN_000046 1/13006 0/8600 1/4406
?/? c.616-10C>G r.(=) p.(=) g.3198805C>G Copied from the Exome Variant Server NCLN_000047 1/13006 0/8600 1/4406
?/? c.616-6C>T r.(=) p.(=) g.3198809C>T Copied from the Exome Variant Server NCLN_000048 2/13006 0/8600 2/4406
?/? c.618G>A r.(=) p.(=) g.3198817G>A Copied from the Exome Variant Server NCLN_000049 15/13006 7/8600 8/4406
?/? c.636C>T r.(=) p.(=) g.3198835C>T Copied from the Exome Variant Server NCLN_000050 4/13006 4/8600 0/4406
?/? c.642G>C r.(?) p.(Glu214Asp) g.3198841G>C Copied from the Exome Variant Server NCLN_000051 243/13006 224/8600 19/4406
?/? c.663C>T r.(=) p.(=) g.3198862C>T Copied from the Exome Variant Server NCLN_000052 3/13006 0/8600 3/4406
?/? c.678C>T r.(=) p.(=) g.3198877C>T Copied from the Exome Variant Server NCLN_000053 3/13006 1/8600 2/4406
?/? c.696+22C>T r.(=) p.(=) g.3198917C>T Copied from the Exome Variant Server NCLN_000054 12/13002 10/8600 2/4402
?/? c.696+25C>T r.(=) p.(=) g.3198920C>T Copied from the Exome Variant Server NCLN_000055 1/13002 1/8600 0/4402
?/? c.696+41T>C r.(=) p.(=) g.3198936T>C Copied from the Exome Variant Server NCLN_000056 1/13002 0/8600 1/4402
?/? c.697-42C>T r.(=) p.(=) g.3201479C>T Copied from the Exome Variant Server NCLN_000057 628/12428 9/8238 619/4190
?/? c.697-41G>A r.(=) p.(=) g.3201480G>A Copied from the Exome Variant Server NCLN_000058 481/12474 340/8276 141/4198
?/? c.697-38C>T r.(=) p.(=) g.3201483C>T Copied from the Exome Variant Server NCLN_000059 1/12522 0/8296 1/4226
?/? c.697-34G>T r.(=) p.(=) g.3201487G>T Copied from the Exome Variant Server NCLN_000060 11/12674 0/8398 11/4276
?/? c.697-11C>T r.(=) p.(=) g.3201510C>T Copied from the Exome Variant Server NCLN_000061 1/12850 0/8498 1/4352
?/? c.711C>T r.(=) p.(=) g.3201535C>T Copied from the Exome Variant Server NCLN_000062 1/12706 1/8408 0/4298
?/? c.722A>G r.(?) p.(Asn241Ser) g.3201546A>G Copied from the Exome Variant Server NCLN_000063 1/12846 1/8500 0/4346
?/? c.792G>A r.(=) p.(=) g.3201616G>A Copied from the Exome Variant Server NCLN_000064 1/12826 0/8478 1/4348
?/? c.800+10G>A r.(=) p.(=) g.3201634G>A Copied from the Exome Variant Server NCLN_000065 4/12076 3/7994 1/4082
?/? c.801-49C>T r.(=) p.(=) g.3203705C>T Copied from the Exome Variant Server NCLN_000066 3/12950 2/8574 1/4376
?/? c.801-17T>C r.(=) p.(=) g.3203737T>C Copied from the Exome Variant Server NCLN_000067 6/12994 6/8596 0/4398
?/? c.813G>C r.(=) p.(=) g.3203766G>C Copied from the Exome Variant Server NCLN_000068 1/13000 1/8598 0/4402
?/? c.859C>T r.(?) p.(Arg287Cys) g.3203812C>T Copied from the Exome Variant Server NCLN_000069 1/13000 1/8596 0/4404
?/? c.889+12C>T r.(=) p.(=) g.3203854C>T Copied from the Exome Variant Server NCLN_000070 1/12994 1/8596 0/4398
?/? c.889+23del r.(=) p.(=) g.3203865del Copied from the Exome Variant Server NCLN_000071 259/12476 194/8240 65/4236
?/? c.889+28T>C r.(=) p.(=) g.3203870T>C Copied from the Exome Variant Server NCLN_000072 5/12980 0/8590 5/4390
?/? c.889+30C>T r.(=) p.(=) g.3203872C>T Copied from the Exome Variant Server NCLN_000073 1/12974 0/8586 1/4388
?/? c.889+31C>T r.(=) p.(=) g.3203873C>T Copied from the Exome Variant Server NCLN_000074 2/12972 2/8586 0/4386
?/? c.889+32G>A r.(=) p.(=) g.3203874G>A Copied from the Exome Variant Server NCLN_000075 2/12970 0/8586 2/4384
?/? c.889+33C>T r.(=) p.(=) g.3203875C>T Copied from the Exome Variant Server NCLN_000076 1/12966 0/8582 1/4384
?/? c.889+34_889+36del r.(=) p.(=) g.3203876_3203878del Copied from the Exome Variant Server NCLN_000077 16/12434 13/8206 3/4228
?/? c.890-41C>T r.(=) p.(=) g.3203962C>T Copied from the Exome Variant Server NCLN_000078 52/12876 47/8538 5/4338
?/? c.890-22G>A r.(=) p.(=) g.3203981G>A Copied from the Exome Variant Server NCLN_000079 1/12906 1/8550 0/4356
?/? c.890-21C>T r.(=) p.(=) g.3203982C>T Copied from the Exome Variant Server NCLN_000080 1/12916 1/8556 0/4360
?/? c.890-12G>A r.(=) p.(=) g.3203991G>A Copied from the Exome Variant Server NCLN_000081 3/12940 3/8568 0/4372
?/? c.890-7C>T r.(=) p.(=) g.3203996C>T Copied from the Exome Variant Server NCLN_000082 11/12938 0/8568 11/4370
?/? c.912T>C r.(=) p.(=) g.3204025T>C Copied from the Exome Variant Server NCLN_000083 1/12962 0/8582 1/4380
?/? c.947G>A r.(?) p.(Arg316Gln) g.3204060G>A Copied from the Exome Variant Server NCLN_000084 1/12968 1/8584 0/4384
?/? c.969C>T r.(=) p.(=) g.3204082C>T Copied from the Exome Variant Server NCLN_000085 1/12978 1/8584 0/4394
?/? c.995C>T r.(?) p.(Thr332Ile) g.3204108C>T Copied from the Exome Variant Server NCLN_000086 1/12986 0/8592 1/4394
?/? c.1005C>T r.(=) p.(=) g.3204118C>T Copied from the Exome Variant Server NCLN_000087 3/12990 2/8590 1/4400
?/? c.1029+13T>C r.(=) p.(=) g.3204155T>C Copied from the Exome Variant Server NCLN_000088 45/12980 43/8586 2/4394
?/? c.1029+17T>C r.(=) p.(=) g.3204159T>C Copied from the Exome Variant Server NCLN_000089 578/12980 384/8586 194/4394
?/? c.1029+30A>G r.(=) p.(=) g.3204172A>G Copied from the Exome Variant Server NCLN_000090 6437/12976 3850/8580 2587/4396
?/? c.1029+37C>T r.(=) p.(=) g.3204179C>T Copied from the Exome Variant Server NCLN_000091 1/12966 0/8570 1/4396
?/? c.1030-44C>T r.(=) p.(=) g.3204527C>T Copied from the Exome Variant Server NCLN_000092 1/12986 1/8584 0/4402
?/? c.1030-34G>A r.(=) p.(=) g.3204537G>A Copied from the Exome Variant Server NCLN_000093 1/12992 0/8588 1/4404
?/? c.1035C>T r.(=) p.(=) g.3204576C>T Copied from the Exome Variant Server NCLN_000094 2/13002 2/8596 0/4406
?/? c.1054G>A r.(?) p.(Val352Ile) g.3204595G>A Copied from the Exome Variant Server NCLN_000095 1/13004 0/8598 1/4406
?/? c.1071G>A r.(=) p.(=) g.3204612G>A Copied from the Exome Variant Server NCLN_000096 71/13004 0/8598 71/4406
?/? c.1116C>T r.(=) p.(=) g.3204657C>T Copied from the Exome Variant Server NCLN_000097 1/13000 1/8594 0/4406
?/? c.1131C>A r.(=) p.(=) g.3204672C>A Copied from the Exome Variant Server NCLN_000098 2/13000 1/8594 1/4406
?/? c.1180G>A r.(?) p.(Gly394Ser) g.3204721G>A Copied from the Exome Variant Server NCLN_000099 2/12968 2/8580 0/4388
?/? c.1191C>T r.(=) p.(=) g.3204732C>T Copied from the Exome Variant Server NCLN_000100 23/12968 21/8580 2/4388
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