Unique variants in gene ATG2B

Information The variants shown are described using the NM_018036.5 transcript reference sequence.

339 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-44G>T r.(=) p.(=) g.96829357C>A Copied from the Exome Variant Server ATG2B_000339 4/12742 0/8494 4/4248
1 c.-40C>T r.(=) p.(=) g.96829353G>A Copied from the Exome Variant Server ATG2B_000338 2/12742 0/8500 2/4242
1 c.-18C>T r.(=) p.(=) g.96829331G>A Copied from the Exome Variant Server ATG2B_000337 1/12808 0/8540 1/4268
1 c.-7A>G r.(=) p.(=) g.96829320T>C Copied from the Exome Variant Server ATG2B_000336 5/12804 0/8540 5/4264
1 c.10C>T r.(?) p.(Pro4Ser) g.96829304G>A Copied from the Exome Variant Server ATG2B_000335 1/12746 1/8510 0/4236
1 c.12G>A r.(=) p.(=) g.96829302C>T Copied from the Exome Variant Server ATG2B_000334 212/12738 195/8510 17/4228
1 c.24C>T r.(=) p.(=) g.96829290G>A Copied from the Exome Variant Server ATG2B_000333 7627/12668 6047/8470 1580/4198
1 c.39_40insC r.(?) p.(Cys14Leufs*45) g.96829274_96829275insG Copied from the Exome Variant Server ATG2B_000332 96/11890 57/8024 39/3866
1 c.45G>A r.(=) p.(=) g.96829269C>T Copied from the Exome Variant Server ATG2B_000331 1/12432 0/8370 1/4062
1 c.69C>A r.(=) p.(=) g.96829245G>T Copied from the Exome Variant Server ATG2B_000330 1/12266 1/8308 0/3958
1 c.78G>T r.(=) p.(=) g.96829236C>A Copied from the Exome Variant Server ATG2B_000329 1/12214 0/8288 1/3926
1 c.147C>A r.(=) p.(=) g.96829167G>T Copied from the Exome Variant Server ATG2B_000328 1/11876 1/8164 0/3712
1 c.162+25G>A r.(=) p.(=) g.96829127C>T Copied from the Exome Variant Server ATG2B_000327 1/11638 0/8026 1/3612
1 c.162+39C>T r.(=) p.(=) g.96829113G>A Copied from the Exome Variant Server ATG2B_000326 1/11610 0/8010 1/3600
1 c.163-39G>C r.(=) p.(=) g.96813717C>G Copied from the Exome Variant Server ATG2B_000325 444/12244 4/8318 440/3926
1 c.163-25T>A r.(=) p.(=) g.96813703A>T Copied from the Exome Variant Server ATG2B_000324 12039/12286 8253/8336 3786/3950
1 c.307C>T r.(?) p.(Arg103Trp) g.96813534G>A Copied from the Exome Variant Server ATG2B_000323 1/12072 0/8250 1/3822
1 c.319C>T r.(?) p.(Arg107Cys) g.96813522G>A Copied from the Exome Variant Server ATG2B_000322 3/12028 2/8224 1/3804
1 c.320G>A r.(?) p.(Arg107His) g.96813521C>T Copied from the Exome Variant Server ATG2B_000321 3/12012 2/8214 1/3798
1 c.379T>C r.(=) p.(=) g.96811669A>G Copied from the Exome Variant Server ATG2B_000320 1/11864 1/8182 0/3682
1 c.384A>G r.(=) p.(=) g.96811664T>C Copied from the Exome Variant Server ATG2B_000319 5/11860 3/8180 2/3680
1 c.459T>C r.(=) p.(=) g.96811589A>G Copied from the Exome Variant Server ATG2B_000318 10/11826 0/8194 10/3632
1 c.462T>C r.(=) p.(=) g.96811586A>G Copied from the Exome Variant Server ATG2B_000317 71/11824 0/8192 71/3632
1 c.479-41A>G r.(=) p.(=) g.96811134T>C Copied from the Exome Variant Server ATG2B_000316 334/11650 3/8088 331/3562
1 c.479-26C>T r.(=) p.(=) g.96811119G>A Copied from the Exome Variant Server ATG2B_000315 53/11672 1/8096 52/3576
1 c.507A>G r.(?) p.(Ile169Met) g.96811065T>C Copied from the Exome Variant Server ATG2B_000314 2/11700 0/8104 2/3596
1 c.529C>T r.(?) p.(His177Tyr) g.96811043G>A Copied from the Exome Variant Server ATG2B_000313 2/11716 1/8108 1/3608
1 c.561A>G r.(=) p.(=) g.96811011T>C Copied from the Exome Variant Server ATG2B_000312 1/11734 1/8118 0/3616
1 c.581+23A>G r.(=) p.(=) g.96810968T>C Copied from the Exome Variant Server ATG2B_000311 1/11700 1/8102 0/3598
1 c.581+38G>A r.(=) p.(=) g.96810953C>T Copied from the Exome Variant Server ATG2B_000310 1/11658 0/8078 1/3580
1 c.581+42C>T r.(=) p.(=) g.96810949G>A Copied from the Exome Variant Server ATG2B_000309 19/11640 18/8070 1/3570
1 c.618A>G r.(=) p.(=) g.96809582T>C Copied from the Exome Variant Server ATG2B_000308 2/12060 2/8246 0/3814
1 c.653A>G r.(?) p.(His218Arg) g.96809547T>C Copied from the Exome Variant Server ATG2B_000307 1/12078 0/8252 1/3826
1 c.669C>T r.(=) p.(=) g.96809531G>A Copied from the Exome Variant Server ATG2B_000306 68/12044 17/8248 51/3796
1 c.739C>T r.(?) p.(Pro247Ser) g.96809461G>A Copied from the Exome Variant Server ATG2B_000305 117/11868 1/8182 116/3686
1 c.744+28A>G r.(=) p.(=) g.96809428T>C Copied from the Exome Variant Server ATG2B_000304 2/11730 2/8126 0/3604
1 c.744+50del r.(=) p.(=) g.96809406del Copied from the Exome Variant Server ATG2B_000303 1/11244 1/7786 0/3458
1 c.761T>G r.(?) p.(Leu254Arg) g.96808022A>C Copied from the Exome Variant Server ATG2B_000302 1/11792 1/8150 0/3642
1 c.764C>T r.(?) p.(Ser255Leu) g.96808019G>A Copied from the Exome Variant Server ATG2B_000301 14/11798 0/8152 14/3646
1 c.824C>T r.(?) p.(Pro275Leu) g.96807959G>A Copied from the Exome Variant Server ATG2B_000300 2/11994 0/8230 2/3764
1 c.852G>A r.(=) p.(=) g.96807931C>T Copied from the Exome Variant Server ATG2B_000299 1/12062 0/8258 1/3804
1 c.859C>T r.(?) p.(Arg287Trp) g.96807924G>A Copied from the Exome Variant Server ATG2B_000298 2/12072 2/8256 0/3816
1 c.924+17C>T r.(=) p.(=) g.96807842G>A Copied from the Exome Variant Server ATG2B_000297 1/12026 0/8220 1/3806
1 c.925-16_925-15insA r.(=) p.(=) g.96800853_96800854insT Copied from the Exome Variant Server ATG2B_000296 2/11362 2/7834 0/3528
1 c.925-9del r.(=) p.(=) g.96800847del Copied from the Exome Variant Server ATG2B_000295 1540/11334 1069/7818 471/3516
1 c.925-9dup r.(=) p.(=) g.96800847dup Copied from the Exome Variant Server ATG2B_000294 130/11334 96/7818 34/3516
1 c.948C>T r.(=) p.(=) g.96800815G>A Copied from the Exome Variant Server ATG2B_000293 1/11870 1/8180 0/3690
1 c.1011T>A r.(=) p.(=) g.96800752A>T Copied from the Exome Variant Server ATG2B_000292 1/11800 0/8150 1/3650
1 c.1021+37T>C r.(=) p.(=) g.96800705A>G Copied from the Exome Variant Server ATG2B_000291 4/11620 0/8080 4/3540
1 c.1022-51A>C r.(=) p.(=) g.96800261T>G Copied from the Exome Variant Server ATG2B_000290 6/11802 6/8160 0/3642
1 c.1022-7C>G r.(=) p.(=) g.96800217G>C Copied from the Exome Variant Server ATG2B_000288 2/11780 0/8150 2/3630
1 c.1039G>A r.(?) p.(Gly347Arg) g.96800193C>T Copied from the Exome Variant Server ATG2B_000286 1/11790 0/8152 1/3638
1 c.1086C>T r.(=) p.(=) g.96800146G>A Copied from the Exome Variant Server ATG2B_000284 2/11848 0/8172 2/3676
1 c.1205G>A r.(?) p.(Arg402His) g.96800027C>T Copied from the Exome Variant Server ATG2B_000289 63/11844 59/8190 4/3654
1 c.1207+13A>G r.(=) p.(=) g.96800012T>C Copied from the Exome Variant Server ATG2B_000287 4/11818 0/8180 4/3638
1 c.1207+15C>A r.(=) p.(=) g.96800010G>T Copied from the Exome Variant Server ATG2B_000285 1/11814 1/8178 0/3636
1 c.1207+39A>G r.(=) p.(=) g.96799986T>C Copied from the Exome Variant Server ATG2B_000283 1/11740 1/8142 0/3598
1 c.1270C>G r.(?) p.(Pro424Ala) g.96798930G>C Copied from the Exome Variant Server ATG2B_000282 1/11826 1/8152 0/3674
1 c.1288A>C r.(?) p.(Asn430His) g.96798912T>G Copied from the Exome Variant Server ATG2B_000281 1/11780 0/8136 1/3644
1 c.1297C>T r.(?) p.(Leu433Phe) g.96798903G>A Copied from the Exome Variant Server ATG2B_000280 1/11782 1/8138 0/3644
1 c.1312A>G r.(?) p.(Thr438Ala) g.96798888T>C Copied from the Exome Variant Server ATG2B_000279 1/11774 1/8144 0/3630
1 c.1322A>C r.(?) p.(Tyr441Ser) g.96798878T>G Copied from the Exome Variant Server ATG2B_000278 1/11760 0/8140 1/3620
1 c.1360G>A r.(?) p.(Val454Met) g.96798840C>T Copied from the Exome Variant Server ATG2B_000277 56/11758 51/8154 5/3604
1 c.1362+22C>T r.(=) p.(=) g.96798816G>A Copied from the Exome Variant Server ATG2B_000276 1/11746 1/8142 0/3604
1 c.1362+44C>T r.(=) p.(=) g.96798794G>A Copied from the Exome Variant Server ATG2B_000275 4/11748 0/8144 4/3604
1 c.1363-24G>A r.(=) p.(=) g.96798771C>T Copied from the Exome Variant Server ATG2B_000274 1/11762 0/8140 1/3622
1 c.1365_1366insTT r.(?) p.(Gln456Phefs*17) g.96798744_96798745insAA Copied from the Exome Variant Server ATG2B_000273 1/11340 1/7808 0/3532
1 c.1374T>C r.(=) p.(=) g.96798736A>G Copied from the Exome Variant Server ATG2B_000272 6/11804 4/8152 2/3652
1 c.1430C>T r.(?) p.(Pro477Leu) g.96798680G>A Copied from the Exome Variant Server ATG2B_000271 236/11854 3/8182 233/3672
1 c.1436A>G r.(?) p.(Asn479Ser) g.96798674T>C Copied from the Exome Variant Server ATG2B_000270 325/11840 1/8178 324/3662
1 c.1468+34C>T r.(=) p.(=) g.96798608G>A Copied from the Exome Variant Server ATG2B_000269 2/11750 0/8142 2/3608
1 c.1497T>C r.(=) p.(=) g.96797946A>G Copied from the Exome Variant Server ATG2B_000268 2/11804 2/8180 0/3624
1 c.1546A>G r.(?) p.(Ile516Val) g.96797897T>C Copied from the Exome Variant Server ATG2B_000267 1/11924 0/8216 1/3708
1 c.1576C>G r.(?) p.(Pro526Ala) g.96797867G>C Copied from the Exome Variant Server ATG2B_000266 6/11982 3/8242 3/3740
1 c.1668A>G r.(=) p.(=) g.96797775T>C Copied from the Exome Variant Server ATG2B_000265 68/11884 63/8196 5/3688
1 c.1719C>T r.(=) p.(=) g.96797724G>A Copied from the Exome Variant Server ATG2B_000264 11697/11948 8137/8222 3560/3726
1 c.1730+16T>C r.(=) p.(=) g.96797697A>G Copied from the Exome Variant Server ATG2B_000263 53/11932 0/8220 53/3712
1 c.1730+40C>T r.(=) p.(=) g.96797673G>A Copied from the Exome Variant Server ATG2B_000262 1/11890 1/8202 0/3688
1 c.1730+44T>G r.(=) p.(=) g.96797669A>C Copied from the Exome Variant Server ATG2B_000261 7/11884 7/8206 0/3678
1 c.1731-26C>G r.(=) p.(=) g.96795997G>C Copied from the Exome Variant Server ATG2B_000260 3590/11708 2195/8118 1395/3590
1 c.1731-14A>G r.(=) p.(=) g.96795985T>C Copied from the Exome Variant Server ATG2B_000259 139/11722 0/8118 139/3604
1 c.1759T>C r.(?) p.(Tyr587His) g.96795943A>G Copied from the Exome Variant Server ATG2B_000258 65/11750 0/8120 65/3630
1 c.1764A>G r.(=) p.(=) g.96795938T>C Copied from the Exome Variant Server ATG2B_000257 1/11754 1/8126 0/3628
1 c.1784C>T r.(?) p.(Ser595Phe) g.96795918G>A Copied from the Exome Variant Server ATG2B_000256 2/11778 1/8140 1/3638
1 c.1817A>G r.(?) p.(Gln606Arg) g.96795885T>C Copied from the Exome Variant Server ATG2B_000255 11/11792 0/8160 11/3632
1 c.1846A>G r.(?) p.(Thr616Ala) g.96795856T>C Copied from the Exome Variant Server ATG2B_000254 1/11766 0/8144 1/3622
1 c.1864C>T r.(?) p.(Pro622Ser) g.96795838G>A Copied from the Exome Variant Server ATG2B_000253 3/11762 3/8144 0/3618
1 c.1882-41G>C r.(=) p.(=) g.96795144C>G Copied from the Exome Variant Server ATG2B_000252 10/11732 0/8128 10/3604
1 c.1956T>C r.(=) p.(=) g.96795029A>G Copied from the Exome Variant Server ATG2B_000251 161/11752 145/8154 16/3598
1 c.1961A>C r.(?) p.(Asn654Thr) g.96795024T>G Copied from the Exome Variant Server ATG2B_000250 1/11746 0/8154 1/3592
1 c.1964G>C r.(?) p.(Arg655Thr) g.96795021C>G Copied from the Exome Variant Server ATG2B_000249 1/11742 1/8152 0/3590
1 c.1974+15T>C r.(=) p.(=) g.96794996A>G Copied from the Exome Variant Server ATG2B_000248 1/11684 1/8120 0/3564
1 c.1974+21A>C r.(=) p.(=) g.96794990T>G Copied from the Exome Variant Server ATG2B_000247 5/11680 5/8116 0/3564
1 c.1974+29C>T r.(=) p.(=) g.96794982G>A Copied from the Exome Variant Server ATG2B_000246 2/11684 2/8118 0/3566
1 c.1975-25G>T r.(=) p.(=) g.96794897C>A Copied from the Exome Variant Server ATG2B_000245 9/11694 0/8132 9/3562
1 c.1975-16T>A r.(=) p.(=) g.96794888A>T Copied from the Exome Variant Server ATG2B_000244 11/11700 11/8134 0/3566
1 c.1975-6del r.(=) p.(=) g.96794878del Copied from the Exome Variant Server ATG2B_000243 97/11250 75/7794 22/3456
1 c.1975-6dup r.(=) p.(=) g.96794878dup Copied from the Exome Variant Server ATG2B_000242 123/11250 93/7794 30/3456
1 c.2005C>T r.(?) p.(His669Tyr) g.96794842G>A Copied from the Exome Variant Server ATG2B_000241 1/11864 1/8188 0/3676
1 c.2053G>A r.(?) p.(Asp685Asn) g.96794794C>T Copied from the Exome Variant Server ATG2B_000240 1/11978 1/8236 0/3742
Legend   « First ‹ Prev     1 2 3 4     Next › Last »