All transcript variants in gene TMEM131

Information The variants shown are described using the NM_015348.1 transcript reference sequence.

272 entries on 3 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.188-59T>C r.(=) p.(=) g.98544009A>G Copied from the Exome Variant Server TMEM131_000265 27/4562 26/3178 1/1384
?/? c.188-39T>C r.(=) p.(=) g.98543989A>G Copied from the Exome Variant Server TMEM131_000263 1/11832 0/8160 1/3672
?/? c.192C>T r.(=) p.(=) g.98543946G>A Copied from the Exome Variant Server TMEM131_000271 3/11934 0/8192 3/3742
?/? c.193G>A r.(?) p.(Val65Ile) g.98543945C>T Copied from the Exome Variant Server TMEM131_000270 63/11934 4/8194 59/3740
?/? c.249+13del r.(=) p.(=) g.98543876del Copied from the Exome Variant Server TMEM131_000269 102/11316 69/7812 33/3504
?/? c.249+48T>C r.(=) p.(=) g.98543841A>G Copied from the Exome Variant Server TMEM131_000268 1/11674 1/8094 0/3580
?/? c.250-25A>G r.(=) p.(=) g.98525186T>C Copied from the Exome Variant Server TMEM131_000267 1/11704 1/8126 0/3578
?/? c.252C>T r.(=) p.(=) g.98525159G>A Copied from the Exome Variant Server TMEM131_000266 6/11740 1/8136 5/3604
?/? c.253G>A r.(?) p.(Glu85Lys) g.98525158C>T Copied from the Exome Variant Server TMEM131_000264 1/11750 1/8140 0/3610
?/? c.290+14A>G r.(=) p.(=) g.98525107T>C Copied from the Exome Variant Server TMEM131_000262 9587/11786 6356/8146 3231/3640
?/? c.290+20T>C r.(=) p.(=) g.98525101A>G Copied from the Exome Variant Server TMEM131_000261 1/11794 1/8150 0/3644
?/? c.291-23T>C r.(=) p.(=) g.98504606A>G Copied from the Exome Variant Server TMEM131_000260 23/11740 1/8142 22/3598
?/? c.353A>G r.(?) p.(His118Arg) g.98504521T>C Copied from the Exome Variant Server TMEM131_000259 1/11804 1/8160 0/3644
?/? c.359+22T>A r.(=) p.(=) g.98504493A>T Copied from the Exome Variant Server TMEM131_000258 2/11812 2/8154 0/3658
?/? c.359+40T>C r.(=) p.(=) g.98504475A>G Copied from the Exome Variant Server TMEM131_000257 1/11830 1/8158 0/3672
?/? c.359+58T>C r.(=) p.(=) g.98504457A>G Copied from the Exome Variant Server TMEM131_000256 100/4566 0/3182 100/1384
?/? c.360-25T>C r.(=) p.(=) g.98475915A>G Copied from the Exome Variant Server TMEM131_000255 148/11682 4/8098 144/3584
?/? c.360-24G>A r.(=) p.(=) g.98475914C>T Copied from the Exome Variant Server TMEM131_000254 11/11682 11/8098 0/3584
?/? c.397C>A r.(?) p.(His133Asn) g.98475853G>T Copied from the Exome Variant Server TMEM131_000253 3/11792 3/8154 0/3638
?/? c.429A>G r.(=) p.(=) g.98475821T>C Copied from the Exome Variant Server TMEM131_000252 1/11806 0/8154 1/3652
?/? c.435A>G r.(=) p.(=) g.98475815T>C Copied from the Exome Variant Server TMEM131_000251 1/11800 0/8148 1/3652
?/? c.483+40A>G r.(=) p.(=) g.98475727T>C Copied from the Exome Variant Server TMEM131_000250 1/11758 0/8132 1/3626
?/? c.484-18C>T r.(=) p.(=) g.98460742G>A Copied from the Exome Variant Server TMEM131_000249 3519/10388 2322/7210 1197/3178
?/? c.498A>C r.(=) p.(=) g.98460710T>G Copied from the Exome Variant Server TMEM131_000248 5/11114 0/7710 5/3404
?/? c.603A>G r.(=) p.(=) g.98458398T>C Copied from the Exome Variant Server TMEM131_000247 1/11798 0/8150 1/3648
?/? c.627A>G r.(=) p.(=) g.98458374T>C Copied from the Exome Variant Server TMEM131_000246 1/11832 1/8160 0/3672
?/? c.642G>A r.(=) p.(=) g.98458359C>T Copied from the Exome Variant Server TMEM131_000245 4/11870 4/8178 0/3692
?/? c.699C>T r.(=) p.(=) g.98458302G>A Copied from the Exome Variant Server TMEM131_000244 1/11884 0/8184 1/3700
?/? c.723+16T>C r.(=) p.(=) g.98458262A>G Copied from the Exome Variant Server TMEM131_000243 3/11836 3/8170 0/3666
?/? c.724-29C>T r.(=) p.(=) g.98453649G>A Copied from the Exome Variant Server TMEM131_000242 9/12026 8/8256 1/3770
?/? c.724-28G>A r.(=) p.(=) g.98453648C>T Copied from the Exome Variant Server TMEM131_000241 1/12024 1/8256 0/3768
?/? c.724-12C>T r.(=) p.(=) g.98453632G>A Copied from the Exome Variant Server TMEM131_000240 5/12024 5/8254 0/3770
?/? c.804+13C>G r.(=) p.(=) g.98453527G>C Copied from the Exome Variant Server TMEM131_000239 1017/11908 640/8196 377/3712
?/? c.805-20A>G r.(=) p.(=) g.98451408T>C Copied from the Exome Variant Server TMEM131_000238 1/11948 1/8200 0/3748
?/? c.805-4T>C r.spl? p.? g.98451392A>G Copied from the Exome Variant Server TMEM131_000237 1/11948 0/8206 1/3742
?/? c.855T>C r.(=) p.(=) g.98451338A>G Copied from the Exome Variant Server TMEM131_000236 1/11910 1/8196 0/3714
?/? c.866A>T r.(?) p.(Asp289Val) g.98451327T>A Copied from the Exome Variant Server TMEM131_000235 3/11938 0/8206 3/3732
?/? c.956-39C>T r.(=) p.(=) g.98451179G>A Copied from the Exome Variant Server TMEM131_000233 1/11772 0/8154 1/3618
?/? c.1012+31G>A r.(=) p.(=) g.98451053C>T Copied from the Exome Variant Server TMEM131_000231 54/11066 2/7728 52/3338
?/? c.1105A>G r.(?) p.(Ile369Val) g.98435154T>C Copied from the Exome Variant Server TMEM131_000229 2/11912 0/8204 2/3708
?/? c.1183+21C>G r.(=) p.(=) g.98435055G>C Copied from the Exome Variant Server TMEM131_000227 1/11844 1/8176 0/3668
?/? c.1183+27T>C r.(=) p.(=) g.98435049A>G Copied from the Exome Variant Server TMEM131_000225 1/11838 1/8174 0/3664
?/? c.1183+42T>C r.(=) p.(=) g.98435034A>G Copied from the Exome Variant Server TMEM131_000223 1/11796 1/8154 0/3642
?/? c.1183+51T>A r.(=) p.(=) g.98435025A>T Copied from the Exome Variant Server TMEM131_000221 1/6072 1/4188 0/1884
?/? c.1184-25_1184-24del r.(=) p.(=) g.98431794_98431795del Copied from the Exome Variant Server TMEM131_000219 1/11216 1/7764 0/3452
?/? c.1184-15T>C r.(=) p.(=) g.98431785A>G Copied from the Exome Variant Server TMEM131_000217 3/11670 3/8104 0/3566
?/? c.1208A>G r.(?) p.(Gln403Arg) g.98431746T>C Copied from the Exome Variant Server TMEM131_000215 2/11694 2/8116 0/3578
?/? c.1215T>C r.(=) p.(=) g.98431739A>G Copied from the Exome Variant Server TMEM131_000213 1/11696 1/8118 0/3578
?/? c.1247G>A r.(?) p.(Ser416Asn) g.98431707C>T Copied from the Exome Variant Server TMEM131_000211 6/11692 0/8116 6/3576
?/? c.1292+14T>C r.(=) p.(=) g.98431648A>G Copied from the Exome Variant Server TMEM131_000209 2/11644 2/8086 0/3558
?/? c.1292+46T>C r.(=) p.(=) g.98431616A>G Copied from the Exome Variant Server TMEM131_000207 1/11574 0/8048 1/3526
?/? c.1293-52A>C r.(=) p.(=) g.98430903T>G Copied from the Exome Variant Server TMEM131_000205 21/5966 21/4140 0/1826
?/? c.1293-8T>C r.(=) p.(=) g.98430859A>G Copied from the Exome Variant Server TMEM131_000234 1/11790 1/8162 0/3628
?/? c.1293-6_1293-5insT r.spl? p.? g.98430856_98430857insA Copied from the Exome Variant Server TMEM131_000232 24/11322 21/7814 3/3508
?/? c.1307A>T r.(?) p.(Asp436Val) g.98430837T>A Copied from the Exome Variant Server TMEM131_000230 8/11908 7/8200 1/3708
?/? c.1348_1349insCTG r.(?) p.(Ala449dup) g.98430795_98430796insCAG Copied from the Exome Variant Server TMEM131_000228 1/11512 1/7894 0/3618
?/? c.1382C>T r.(?) p.(Thr461Ile) g.98430762G>A Copied from the Exome Variant Server TMEM131_000226 1/12048 0/8260 1/3788
?/? c.1407C>T r.(=) p.(=) g.98430737G>A Copied from the Exome Variant Server TMEM131_000224 2/12028 2/8252 0/3776
?/? c.1418T>G r.(?) p.(Leu473Arg) g.98430726A>C Copied from the Exome Variant Server TMEM131_000222 2/12002 2/8242 0/3760
?/? c.1446+19A>G r.(=) p.(=) g.98430679T>C Copied from the Exome Variant Server TMEM131_000220 1/11900 0/8196 1/3704
?/? c.1446+33C>G r.(=) p.(=) g.98430665G>C Copied from the Exome Variant Server TMEM131_000218 1/11870 0/8176 1/3694
?/? c.1447-20_1447-19insT r.(=) p.(=) g.98430623_98430624insA Copied from the Exome Variant Server TMEM131_000216 8/11404 7/7828 1/3576
?/? c.1488A>G r.(=) p.(=) g.98430563T>C Copied from the Exome Variant Server TMEM131_000214 34/11974 13/8220 21/3754
?/? c.1511T>A r.(?) p.(Leu504His) g.98430540A>T Copied from the Exome Variant Server TMEM131_000212 1/11962 1/8216 0/3746
?/? c.1549A>C r.(?) p.(Asn517His) g.98430502T>G Copied from the Exome Variant Server TMEM131_000210 1/11932 1/8212 0/3720
?/? c.1591G>A r.(?) p.(Val531Met) g.98430460C>T Copied from the Exome Variant Server TMEM131_000208 2/11836 2/8176 0/3660
?/? c.1597G>A r.(?) p.(Val533Ile) g.98430454C>T Copied from the Exome Variant Server TMEM131_000206 1/11820 1/8166 0/3654
?/? c.1617+28_1617+29insT r.(=) p.(=) g.98430405_98430406insA Copied from the Exome Variant Server TMEM131_000203 654/11358 607/7822 47/3536
?/? c.1618-10A>C r.(=) p.(=) g.98429222T>G Copied from the Exome Variant Server TMEM131_000201 5/11722 5/8124 0/3598
?/? c.1648C>T r.(?) p.(Arg550Cys) g.98429182G>A Copied from the Exome Variant Server TMEM131_000199 1/11744 0/8126 1/3618
?/? c.1653C>T r.(=) p.(=) g.98429177G>A Copied from the Exome Variant Server TMEM131_000197 2/11736 2/8120 0/3616
?/? c.1657G>A r.(?) p.(Asp553Asn) g.98429173C>T Copied from the Exome Variant Server TMEM131_000195 1/11734 1/8122 0/3612
?/? c.1728+24A>G r.(=) p.(=) g.98429078T>C Copied from the Exome Variant Server TMEM131_000193 2/11726 0/8124 2/3602
?/? c.1728+36G>A r.(=) p.(=) g.98429066C>T Copied from the Exome Variant Server TMEM131_000191 2/11724 2/8124 0/3600
?/? c.1729-39C>T r.(=) p.(=) g.98429057G>A Copied from the Exome Variant Server TMEM131_000189 1/11732 1/8128 0/3604
?/? c.1811T>G r.(?) p.(Ile604Arg) g.98428936A>C Copied from the Exome Variant Server TMEM131_000187 1/11806 1/8160 0/3646
?/? c.1821C>A r.(?) p.(Ser607Arg) g.98428926G>T Copied from the Exome Variant Server TMEM131_000185 1/11804 1/8154 0/3650
?/? c.1857A>G r.(=) p.(=) g.98428890T>C Copied from the Exome Variant Server TMEM131_000204 6/11846 1/8172 5/3674
?/? c.1863+16A>G r.(=) p.(=) g.98428868T>C Copied from the Exome Variant Server TMEM131_000202 7/11882 1/8182 6/3700
?/? c.1863+23C>T r.(=) p.(=) g.98428861G>A Copied from the Exome Variant Server TMEM131_000200 49/11894 42/8188 7/3706
?/? c.1864-42A>G r.(=) p.(=) g.98427737T>C Copied from the Exome Variant Server TMEM131_000198 2/11982 0/8220 2/3762
?/? c.1864-10C>G r.(=) p.(=) g.98427705G>C Copied from the Exome Variant Server TMEM131_000196 1/11928 1/8210 0/3718
?/? c.1897A>G r.(?) p.(Arg633Gly) g.98427662T>C Copied from the Exome Variant Server TMEM131_000194 20/11864 0/8196 20/3668
?/? c.1926G>A r.(=) p.(=) g.98427633C>T Copied from the Exome Variant Server TMEM131_000192 371/11860 192/8192 179/3668
?/? c.1968+17G>T r.(=) p.(=) g.98427574C>A Copied from the Exome Variant Server TMEM131_000190 1/11862 1/8194 0/3668
?/? c.1969-27T>C r.(=) p.(=) g.98426264A>G Copied from the Exome Variant Server TMEM131_000188 1/12042 0/8230 1/3812
?/? c.1969-26C>T r.(=) p.(=) g.98426263G>A Copied from the Exome Variant Server TMEM131_000186 1/12048 1/8232 0/3816
?/? c.1969-14T>G r.(=) p.(=) g.98426251A>C Copied from the Exome Variant Server TMEM131_000184 8/12100 8/8266 0/3834
?/? c.1971C>T r.(=) p.(=) g.98426235G>A Copied from the Exome Variant Server TMEM131_000183 1/12150 0/8284 1/3866
?/? c.2055+3A>G r.spl? p.? g.98426148T>C Copied from the Exome Variant Server TMEM131_000182 4/12136 0/8270 4/3866
?/? c.2055+29A>G r.(=) p.(=) g.98426122T>C Copied from the Exome Variant Server TMEM131_000181 1/12022 1/8234 0/3788
?/? c.2055+42_2055+43insT r.(=) p.(=) g.98426108_98426109insA Copied from the Exome Variant Server TMEM131_000180 9/11506 4/7878 5/3628
?/? c.2101C>G r.(?) p.(Gln701Glu) g.98422121G>C Copied from the Exome Variant Server TMEM131_000179 1/11786 1/8158 0/3628
?/? c.2143G>T r.(?) p.(Val715Leu) g.98422079C>A Copied from the Exome Variant Server TMEM131_000178 13/11798 12/8160 1/3638
?/? c.2147G>A r.(?) p.(Arg716Gln) g.98422075C>T Copied from the Exome Variant Server TMEM131_000177 1/11796 1/8158 0/3638
?/? c.2208+12T>C r.(=) p.(=) g.98422002A>G Copied from the Exome Variant Server TMEM131_000176 28/11786 0/8148 28/3638
?/? c.2208+14A>G r.(=) p.(=) g.98422000T>C Copied from the Exome Variant Server TMEM131_000175 1/11782 0/8146 1/3636
?/? c.2208+31T>C r.(=) p.(=) g.98421983A>G Copied from the Exome Variant Server TMEM131_000174 142/11812 2/8164 140/3648
?/? c.2327T>C r.(?) p.(Met776Thr) g.98421626A>G Copied from the Exome Variant Server TMEM131_000173 2/12204 2/8310 0/3894
?/? c.2386G>A r.(?) p.(Glu796Lys) g.98421567C>T Copied from the Exome Variant Server TMEM131_000172 2/12018 2/8250 0/3768
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