All transcript variants in gene RUVBL2

Information The variants shown are described using the NM_006666.1 transcript reference sequence.

138 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.12+9G>T r.(=) p.(=) g.49497189G>T Copied from the Exome Variant Server RUVBL2_000001 16/12922 16/8560 0/4362
?/? c.12+21G>C r.(=) p.(=) g.49497201G>C Copied from the Exome Variant Server RUVBL2_000002 1/12932 0/8568 1/4364
?/? c.13-51G>A r.(=) p.(=) g.49502525G>A Copied from the Exome Variant Server RUVBL2_000003 194/12642 176/8432 18/4210
?/? c.13-19C>T r.(=) p.(=) g.49502557C>T Copied from the Exome Variant Server RUVBL2_000004 32/12644 30/8438 2/4206
?/? c.13-9C>T r.(=) p.(=) g.49502567C>T Copied from the Exome Variant Server RUVBL2_000005 1/12628 0/8426 1/4202
?/? c.32C>T r.(?) p.(Pro11Leu) g.49502595C>T Copied from the Exome Variant Server RUVBL2_000006 2/12524 1/8398 1/4126
?/? c.67+7G>A r.(=) p.(=) g.49502637G>A Copied from the Exome Variant Server RUVBL2_000007 1/12540 1/8386 0/4154
?/? c.67+14G>A r.(=) p.(=) g.49502644G>A Copied from the Exome Variant Server RUVBL2_000008 1/12536 0/8386 1/4150
?/? c.67+16C>A r.(=) p.(=) g.49502646C>A Copied from the Exome Variant Server RUVBL2_000009 1/12528 0/8382 1/4146
?/? c.68-41G>A r.(=) p.(=) g.49506495G>A Copied from the Exome Variant Server RUVBL2_000010 1/12252 1/8306 0/3946
?/? c.107C>T r.(?) p.(Ala36Val) g.49506575C>T Copied from the Exome Variant Server RUVBL2_000011 2/12250 0/8290 2/3960
?/? c.119G>A r.(?) p.(Arg40Gln) g.49506587G>A Copied from the Exome Variant Server RUVBL2_000012 1/12214 1/8282 0/3932
?/? c.123+6G>T r.(=) p.(=) g.49506597G>T Copied from the Exome Variant Server RUVBL2_000013 1/12214 0/8282 1/3932
?/? c.123+67T>C r.(=) p.(=) g.49506658T>C Copied from the Exome Variant Server RUVBL2_000014 25/4566 0/3182 25/1384
?/? c.124-25C>T r.(=) p.(=) g.49507509C>T Copied from the Exome Variant Server RUVBL2_000015 1/12210 1/8292 0/3918
?/? c.124-25_124-23del r.(=) p.(=) g.49507509_49507511del Copied from the Exome Variant Server RUVBL2_000016 1/11696 0/7936 1/3760
?/? c.124-16C>T r.(=) p.(=) g.49507518C>T Copied from the Exome Variant Server RUVBL2_000017 105/12212 1/8286 104/3926
?/? c.132A>G r.(=) p.(=) g.49507542A>G Copied from the Exome Variant Server RUVBL2_000018 1023/12222 632/8262 391/3960
?/? c.168T>C r.(=) p.(=) g.49507578T>C Copied from the Exome Variant Server RUVBL2_000019 1305/12218 654/8266 651/3952
?/? c.207C>T r.(=) p.(=) g.49507617C>T Copied from the Exome Variant Server RUVBL2_000020 28/12200 0/8270 28/3930
?/? c.208G>A r.(?) p.(Gly70Ser) g.49507618G>A Copied from the Exome Variant Server RUVBL2_000021 1/12208 0/8278 1/3930
?/? c.237G>A r.(=) p.(=) g.49507647G>A Copied from the Exome Variant Server RUVBL2_000022 1/12172 0/8286 1/3886
?/? c.243G>A r.(=) p.(=) g.49507653G>A Copied from the Exome Variant Server RUVBL2_000023 1/12168 0/8286 1/3882
?/? c.252G>A r.(=) p.(=) g.49507662G>A Copied from the Exome Variant Server RUVBL2_000024 10/12170 0/8284 10/3886
?/? c.265+50C>T r.(=) p.(=) g.49507725C>T Copied from the Exome Variant Server RUVBL2_000025 22/12098 20/8254 2/3844
?/? c.266-33C>T r.(=) p.(=) g.49510242C>T Copied from the Exome Variant Server RUVBL2_000026 453/12494 414/8356 39/4138
?/? c.266-32G>A r.(=) p.(=) g.49510243G>A Copied from the Exome Variant Server RUVBL2_000027 2/12526 0/8374 2/4152
?/? c.266-15C>G r.(=) p.(=) g.49510260C>G Copied from the Exome Variant Server RUVBL2_000028 1/12544 1/8386 0/4158
?/? c.273G>A r.(=) p.(=) g.49510282G>A Copied from the Exome Variant Server RUVBL2_000029 3/12476 0/8358 3/4118
?/? c.294G>A r.(=) p.(=) g.49510303G>A Copied from the Exome Variant Server RUVBL2_000030 1/12418 0/8338 1/4080
?/? c.304G>A r.(?) p.(Ala102Thr) g.49510313G>A Copied from the Exome Variant Server RUVBL2_000031 1/12432 0/8346 1/4086
?/? c.307A>G r.(?) p.(Ile103Val) g.49510316A>G Copied from the Exome Variant Server RUVBL2_000032 1/12432 0/8352 1/4080
?/? c.312C>T r.(=) p.(=) g.49510321C>T Copied from the Exome Variant Server RUVBL2_000033 1/12416 0/8350 1/4066
?/? c.354G>A r.(=) p.(=) g.49510363G>A Copied from the Exome Variant Server RUVBL2_000034 5/12368 4/8344 1/4024
?/? c.395+6C>T r.(=) p.(=) g.49510410C>T Copied from the Exome Variant Server RUVBL2_000035 2/12048 0/8214 2/3834
?/? c.395+20C>T r.(=) p.(=) g.49510424C>T Copied from the Exome Variant Server RUVBL2_000036 1/11974 1/8184 0/3790
?/? c.395+26C>T r.(=) p.(=) g.49510430C>T Copied from the Exome Variant Server RUVBL2_000037 103/11960 0/8182 103/3778
?/? c.396-48C>T r.(=) p.(=) g.49510511C>T Copied from the Exome Variant Server RUVBL2_000038 1/12248 1/8300 0/3948
?/? c.396-47G>A r.(=) p.(=) g.49510512G>A Copied from the Exome Variant Server RUVBL2_000039 114/12276 20/8306 94/3970
?/? c.462+19G>C r.(=) p.(=) g.49510644G>C Copied from the Exome Variant Server RUVBL2_000040 5/12668 0/8452 5/4216
?/? c.462+23C>G r.(=) p.(=) g.49510648C>G Copied from the Exome Variant Server RUVBL2_000041 31/12654 30/8440 1/4214
?/? c.462+65T>C r.(=) p.(=) g.49510690T>C Copied from the Exome Variant Server RUVBL2_000042 21/4566 0/3182 21/1384
?/? c.463-45C>T r.(=) p.(=) g.49512988C>T Copied from the Exome Variant Server RUVBL2_000043 12/12252 0/8282 12/3970
?/? c.463-29C>T r.(=) p.(=) g.49513004C>T Copied from the Exome Variant Server RUVBL2_000044 160/12218 0/8288 160/3930
?/? c.463-11C>T r.(=) p.(=) g.49513022C>T Copied from the Exome Variant Server RUVBL2_000045 1187/12226 653/8288 534/3938
?/? c.516C>T r.(=) p.(=) g.49513086C>T Copied from the Exome Variant Server RUVBL2_000046 5/12560 0/8408 5/4152
?/? c.520C>T r.(=) p.(=) g.49513090C>T Copied from the Exome Variant Server RUVBL2_000047 1/12584 1/8422 0/4162
?/? c.561C>T r.(=) p.(=) g.49513131C>T Copied from the Exome Variant Server RUVBL2_000048 26/12646 0/8430 26/4216
?/? c.567C>T r.(=) p.(=) g.49513137C>T Copied from the Exome Variant Server RUVBL2_000049 23/12644 9/8438 14/4206
?/? c.569+26C>T r.(=) p.(=) g.49513165C>T Copied from the Exome Variant Server RUVBL2_000050 1/12648 1/8434 0/4214
?/? c.569+43G>A r.(=) p.(=) g.49513182G>A Copied from the Exome Variant Server RUVBL2_000051 1/12646 0/8428 1/4218
?/? c.570-43T>C r.(=) p.(=) g.49513187T>C Copied from the Exome Variant Server RUVBL2_000052 2/12636 2/8420 0/4216
?/? c.570-36A>C r.(=) p.(=) g.49513194A>C Copied from the Exome Variant Server RUVBL2_000053 2/12634 0/8426 2/4208
?/? c.570-18del r.(=) p.(=) g.49513212del Copied from the Exome Variant Server RUVBL2_000054 11/12004 7/8014 4/3990
?/? c.570-13C>T r.(=) p.(=) g.49513217C>T Copied from the Exome Variant Server RUVBL2_000055 1/12546 1/8382 0/4164
?/? c.570-9C>T r.(=) p.(=) g.49513221C>T Copied from the Exome Variant Server RUVBL2_000056 3/12530 0/8374 3/4156
?/? c.570-6C>A r.(=) p.(=) g.49513224C>A Copied from the Exome Variant Server RUVBL2_000057 1/12522 1/8368 0/4154
?/? c.573C>T r.(=) p.(=) g.49513233C>T Copied from the Exome Variant Server RUVBL2_000058 15/12538 0/8384 15/4154
?/? c.585C>T r.(=) p.(=) g.49513245C>T Copied from the Exome Variant Server RUVBL2_000059 6/12528 5/8372 1/4156
?/? c.594G>A r.(=) p.(=) g.49513254G>A Copied from the Exome Variant Server RUVBL2_000060 2/12476 2/8346 0/4130
?/? c.613C>T r.(=) p.(=) g.49513273C>T Copied from the Exome Variant Server RUVBL2_000061 4904/12382 3994/8314 910/4068
?/? c.633C>T r.(=) p.(=) g.49513293C>T Copied from the Exome Variant Server RUVBL2_000062 31/12314 25/8298 6/4016
?/? c.639C>T r.(=) p.(=) g.49513299C>T Copied from the Exome Variant Server RUVBL2_000063 72/12240 0/8276 72/3964
?/? c.640G>A r.(?) p.(Asp214Asn) g.49513300G>A Copied from the Exome Variant Server RUVBL2_000064 1/12232 1/8268 0/3964
?/? c.645C>T r.(=) p.(=) g.49513305C>T Copied from the Exome Variant Server RUVBL2_000065 5/12218 4/8270 1/3948
?/? c.648C>T r.(=) p.(=) g.49513308C>T Copied from the Exome Variant Server RUVBL2_000066 3/12158 1/8250 2/3908
?/? c.657C>T r.(=) p.(=) g.49513317C>T Copied from the Exome Variant Server RUVBL2_000067 9/12102 0/8228 9/3874
?/? c.663+5G>A r.spl? p.? g.49513328G>A Copied from the Exome Variant Server RUVBL2_000068 3/12040 3/8212 0/3828
?/? c.663+8C>T r.(=) p.(=) g.49513331C>T Copied from the Exome Variant Server RUVBL2_000069 321/12034 293/8210 28/3824
?/? c.663+26C>G r.(=) p.(=) g.49513349C>G Copied from the Exome Variant Server RUVBL2_000070 7180/12044 4838/8222 2342/3822
?/? c.664-38C>T r.(=) p.(=) g.49513707C>T Copied from the Exome Variant Server RUVBL2_000071 1/12062 1/8218 0/3844
?/? c.664-29G>A r.(=) p.(=) g.49513716G>A Copied from the Exome Variant Server RUVBL2_000072 645/12086 572/8224 73/3862
?/? c.664-27C>T r.(=) p.(=) g.49513718C>T Copied from the Exome Variant Server RUVBL2_000073 3/12090 0/8224 3/3866
?/? c.664-26G>A r.(=) p.(=) g.49513719G>A Copied from the Exome Variant Server RUVBL2_000074 3/12116 3/8232 0/3884
?/? c.664-12C>T r.(=) p.(=) g.49513733C>T Copied from the Exome Variant Server RUVBL2_000075 6/12114 0/8236 6/3878
?/? c.664-9G>A r.(=) p.(=) g.49513736G>A Copied from the Exome Variant Server RUVBL2_000076 1/12136 1/8254 0/3882
?/? c.664-3T>C r.spl? p.? g.49513742T>C Copied from the Exome Variant Server RUVBL2_000077 16/12186 0/8274 16/3912
?/? c.741C>T r.(=) p.(=) g.49513822C>T Copied from the Exome Variant Server RUVBL2_000078 1/12658 1/8422 0/4236
?/? c.775G>A r.(?) p.(Ala259Thr) g.49513856G>A Copied from the Exome Variant Server RUVBL2_000079 1/12652 1/8442 0/4210
?/? c.777G>A r.(=) p.(=) g.49513858G>A Copied from the Exome Variant Server RUVBL2_000080 2/12650 2/8438 0/4212
?/? c.785C>T r.(?) p.(Ser262Leu) g.49513866C>T Copied from the Exome Variant Server RUVBL2_000081 1/12652 0/8440 1/4212
?/? c.787+11T>G r.(=) p.(=) g.49513879T>G Copied from the Exome Variant Server RUVBL2_000082 1/12618 0/8424 1/4194
?/? c.787+12_787+16del r.(=) p.(=) g.49513880_49513884del Copied from the Exome Variant Server RUVBL2_000083 84/11820 25/7954 59/3866
?/? c.787+32C>T r.(=) p.(=) g.49513900C>T Copied from the Exome Variant Server RUVBL2_000084 1/12512 1/8378 0/4134
?/? c.788-43G>A r.(=) p.(=) g.49514213G>A Copied from the Exome Variant Server RUVBL2_000085 1/12650 1/8458 0/4192
?/? c.807G>A r.(=) p.(=) g.49514275G>A Copied from the Exome Variant Server RUVBL2_000086 51/12748 0/8500 51/4248
?/? c.851G>A r.(?) p.(Arg284His) g.49514319G>A Copied from the Exome Variant Server RUVBL2_000087 1/12724 1/8484 0/4240
?/? c.852C>T r.(=) p.(=) g.49514320C>T Copied from the Exome Variant Server RUVBL2_000088 53/12726 0/8486 53/4240
?/? c.867G>A r.(=) p.(=) g.49514335G>A Copied from the Exome Variant Server RUVBL2_000089 6/12644 0/8452 6/4192
?/? c.882+22G>A r.(=) p.(=) g.49514372G>A Copied from the Exome Variant Server RUVBL2_000090 3/12108 2/8246 1/3862
?/? c.883-49G>A r.(=) p.(=) g.49514400G>A Copied from the Exome Variant Server RUVBL2_000091 3/12364 2/8322 1/4042
?/? c.883-36C>T r.(=) p.(=) g.49514413C>T Copied from the Exome Variant Server RUVBL2_000092 2/12554 2/8408 0/4146
?/? c.883-35G>A r.(=) p.(=) g.49514414G>A Copied from the Exome Variant Server RUVBL2_000093 2/12600 0/8426 2/4174
?/? c.883-34C>T r.(=) p.(=) g.49514415C>T Copied from the Exome Variant Server RUVBL2_000094 1/12608 1/8430 0/4178
?/? c.883-33G>A r.(=) p.(=) g.49514416G>A Copied from the Exome Variant Server RUVBL2_000095 2/12666 1/8452 1/4214
?/? c.883-22C>T r.(=) p.(=) g.49514427C>T Copied from the Exome Variant Server RUVBL2_000096 64/12788 63/8514 1/4274
?/? c.883-20_883-19del r.(=) p.(=) g.49514429_49514430del Copied from the Exome Variant Server RUVBL2_000097 62/12254 46/8144 16/4110
?/? c.918C>G r.(?) p.(Ile306Met) g.49514484C>G Copied from the Exome Variant Server RUVBL2_000098 1/12884 1/8558 0/4326
?/? c.926T>G r.(?) p.(Phe309Cys) g.49514492T>G Copied from the Exome Variant Server RUVBL2_000099 1/12888 1/8560 0/4328
?/? c.930C>G r.(=) p.(=) g.49514496C>G Copied from the Exome Variant Server RUVBL2_000100 1/12884 1/8552 0/4332
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