All transcript variants in gene MTMR14

Information The variants shown are described using the NM_022485.4 transcript reference sequence.

135 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.-9G>C r.(=) p.(=) g.9691259G>C Copied from the Exome Variant Server MTMR14_000001 10/7370 0/5118 10/2252
?/? c.16_18del r.(?) p.(Ala11del) g.9691283_9691285del Copied from the Exome Variant Server MTMR14_000002 31/6728 25/4826 6/1902
?/? c.66G>A r.(=) p.(=) g.9691333G>A Copied from the Exome Variant Server MTMR14_000003 18/11702 0/8076 18/3626
?/? c.160-32C>G r.(=) p.(=) g.9695273C>G Copied from the Exome Variant Server MTMR14_000004 6/12092 5/8264 1/3828
?/? c.160-24G>C r.(=) p.(=) g.9695281G>C Copied from the Exome Variant Server MTMR14_000005 1/12128 0/8272 1/3856
?/? c.160-16C>A r.(=) p.(=) g.9695289C>A Copied from the Exome Variant Server MTMR14_000006 1/12156 0/8296 1/3860
?/? c.166C>G r.(?) p.(Arg56Gly) g.9695311C>G Copied from the Exome Variant Server MTMR14_000007 1/12216 1/8318 0/3898
?/? c.183T>C r.(=) p.(=) g.9695328T>C Copied from the Exome Variant Server MTMR14_000008 1/12258 1/8322 0/3936
?/? c.187G>T r.(?) p.(Glu63*) g.9695332G>T Copied from the Exome Variant Server MTMR14_000009 1/12270 1/8330 0/3940
?/? c.231G>A r.(=) p.(=) g.9695376G>A Copied from the Exome Variant Server MTMR14_000010 1/12298 0/8342 1/3956
?/? c.301_302del r.(?) p.(Lys101Argfs*4) g.9695446_9695447del Copied from the Exome Variant Server MTMR14_000011 2/11892 2/8028 0/3864
?/? c.308+17C>T r.(=) p.(=) g.9695470C>T Copied from the Exome Variant Server MTMR14_000012 1/12412 1/8380 0/4032
?/? c.309-38A>G r.(=) p.(=) g.9703913A>G Copied from the Exome Variant Server MTMR14_000013 1/12390 1/8378 0/4012
?/? c.309-30C>T r.(=) p.(=) g.9703921C>T Copied from the Exome Variant Server MTMR14_000014 1/12416 1/8388 0/4028
?/? c.309-8T>A r.(=) p.(=) g.9703943T>A Copied from the Exome Variant Server MTMR14_000015 1/12438 1/8390 0/4048
?/? c.370C>A r.(=) p.(=) g.9704012C>A Copied from the Exome Variant Server MTMR14_000016 1/12420 1/8382 0/4038
?/? c.371G>A r.(?) p.(Arg124Gln) g.9704013G>A Copied from the Exome Variant Server MTMR14_000017 1/12398 1/8380 0/4018
?/? c.382C>T r.(?) p.(Arg128Trp) g.9704024C>T Copied from the Exome Variant Server MTMR14_000018 1/12406 1/8376 0/4030
?/? c.417del r.(?) p.(Lys139Asnfs*76) g.9704059del Copied from the Exome Variant Server MTMR14_000019 5/11862 1/7988 4/3874
?/? c.417+31C>T r.(=) p.(=) g.9704090C>T Copied from the Exome Variant Server MTMR14_000020 9/12288 1/8330 8/3958
?/? c.418-24G>A r.(=) p.(=) g.9710379G>A Copied from the Exome Variant Server MTMR14_000022 14/12452 14/8398 0/4054
?/? c.418-15A>G r.(=) p.(=) g.9710388A>G Copied from the Exome Variant Server MTMR14_000024 2/12428 0/8390 2/4038
?/? c.480C>T r.(=) p.(=) g.9710465C>T Copied from the Exome Variant Server MTMR14_000026 15/12226 0/8308 15/3918
?/? c.493+13C>T r.(=) p.(=) g.9710491C>T Copied from the Exome Variant Server MTMR14_000028 12/12120 10/8266 2/3854
?/? c.497G>C r.(?) p.(Gly166Ala) g.9711119G>C Copied from the Exome Variant Server MTMR14_000030 1/12656 1/8448 0/4208
?/? c.519T>A r.(?) p.(Asp173Glu) g.9711141T>A Copied from the Exome Variant Server MTMR14_000032 33/12762 32/8490 1/4272
?/? c.528C>T r.(=) p.(=) g.9711150C>T Copied from the Exome Variant Server MTMR14_000034 1/12788 0/8496 1/4292
?/? c.554+13T>G r.(=) p.(=) g.9711189T>G Copied from the Exome Variant Server MTMR14_000036 1/12816 0/8504 1/4312
?/? c.555-40A>G r.(=) p.(=) g.9712692A>G Copied from the Exome Variant Server MTMR14_000021 30/12298 28/8334 2/3964
?/? c.567G>A r.(=) p.(=) g.9712744G>A Copied from the Exome Variant Server MTMR14_000023 15/12288 0/8352 15/3936
?/? c.597C>T r.(=) p.(=) g.9712774C>T Copied from the Exome Variant Server MTMR14_000025 1/12378 0/8374 1/4004
?/? c.624C>T r.(=) p.(=) g.9712801C>T Copied from the Exome Variant Server MTMR14_000027 1/12436 0/8386 1/4050
?/? c.630C>T r.(=) p.(=) g.9712807C>T Copied from the Exome Variant Server MTMR14_000029 1/12432 0/8382 1/4050
?/? c.656A>G r.(?) p.(Lys219Arg) g.9712833A>G Copied from the Exome Variant Server MTMR14_000031 1/12446 1/8370 0/4076
?/? c.677+25A>G r.(=) p.(=) g.9712879A>G Copied from the Exome Variant Server MTMR14_000033 1/12480 0/8382 1/4098
?/? c.678-51T>C r.(=) p.(=) g.9714318T>C Copied from the Exome Variant Server MTMR14_000035 1/12306 1/8324 0/3982
?/? c.678-47_678-46del r.(=) p.(=) g.9714322_9714323del Copied from the Exome Variant Server MTMR14_000037 40/11814 21/7986 19/3828
?/? c.678-34C>T r.(=) p.(=) g.9714335C>T Copied from the Exome Variant Server MTMR14_000038 4/12394 4/8362 0/4032
?/? c.678-29C>T r.(=) p.(=) g.9714340C>T Copied from the Exome Variant Server MTMR14_000039 2/12410 2/8362 0/4048
?/? c.678T>C r.(=) p.(=) g.9714369T>C Copied from the Exome Variant Server MTMR14_000040 1/12422 1/8372 0/4050
?/? c.721G>A r.(?) p.(Asp241Asn) g.9714412G>A Copied from the Exome Variant Server MTMR14_000041 1/12352 1/8342 0/4010
?/? c.727A>G r.(?) p.(Thr243Ala) g.9714418A>G Copied from the Exome Variant Server MTMR14_000042 2/12338 2/8334 0/4004
?/? c.752-34A>C r.(=) p.(=) g.9718967A>C Copied from the Exome Variant Server MTMR14_000043 400/11960 2/8216 398/3744
?/? c.780T>A r.(?) p.(Asp260Glu) g.9719029T>A Copied from the Exome Variant Server MTMR14_000044 8/11950 0/8216 8/3734
?/? c.799del r.(?) p.(Leu268Serfs*14) g.9719048del Copied from the Exome Variant Server MTMR14_000045 1/11502 0/7874 1/3628
?/? c.808T>C r.(?) p.(Phe270Leu) g.9719057T>C Copied from the Exome Variant Server MTMR14_000046 1/11980 1/8224 0/3756
?/? c.822+4T>A r.spl? p.? g.9719075T>A Copied from the Exome Variant Server MTMR14_000047 1/12040 1/8244 0/3796
?/? c.822+10A>G r.(=) p.(=) g.9719081A>G Copied from the Exome Variant Server MTMR14_000048 4/12038 0/8244 4/3794
?/? c.823-33A>T r.(=) p.(=) g.9719635A>T Copied from the Exome Variant Server MTMR14_000049 1/12416 1/8364 0/4052
?/? c.823-14C>G r.(=) p.(=) g.9719654C>G Copied from the Exome Variant Server MTMR14_000050 3/12376 3/8358 0/4018
?/? c.849C>A r.(=) p.(=) g.9719694C>A Copied from the Exome Variant Server MTMR14_000051 1/12374 0/8354 1/4020
?/? c.850C>T r.(?) p.(Pro284Ser) g.9719695C>T Copied from the Exome Variant Server MTMR14_000052 1/12362 0/8348 1/4014
?/? c.852C>T r.(=) p.(=) g.9719697C>T Copied from the Exome Variant Server MTMR14_000053 1/12338 0/8340 1/3998
?/? c.915A>G r.(=) p.(=) g.9724879A>G Copied from the Exome Variant Server MTMR14_000054 1/12076 1/8260 0/3816
?/? c.965-42C>T r.(=) p.(=) g.9726227C>T Copied from the Exome Variant Server MTMR14_000055 1/12424 1/8350 0/4074
?/? c.965-22C>T r.(=) p.(=) g.9726247C>T Copied from the Exome Variant Server MTMR14_000056 1/12462 0/8376 1/4086
?/? c.965-14C>T r.(=) p.(=) g.9726255C>T Copied from the Exome Variant Server MTMR14_000057 29/12444 0/8370 29/4074
?/? c.973G>A r.(?) p.(Gly325Arg) g.9726277G>A Copied from the Exome Variant Server MTMR14_000058 1/12392 0/8356 1/4036
?/? c.1032G>A r.(=) p.(=) g.9726336G>A Copied from the Exome Variant Server MTMR14_000059 1/12248 1/8298 0/3950
?/? c.1050+25_1050+26insAG r.(=) p.(=) g.9726379_9726380insAG Copied from the Exome Variant Server MTMR14_000060 3/11764 1/7956 2/3808
?/? c.1050+27_1050+30del r.(=) p.(=) g.9726381_9726384del Copied from the Exome Variant Server MTMR14_000061 1/11756 1/7954 0/3802
?/? c.1050+34C>G r.(=) p.(=) g.9726388C>G Copied from the Exome Variant Server MTMR14_000062 1/12258 0/8300 1/3958
?/? c.1050+51T>C r.(=) p.(=) g.9726405T>C Copied from the Exome Variant Server MTMR14_000063 1/12360 0/8330 1/4030
?/? c.1050+53G>A r.(=) p.(=) g.9726407G>A Copied from the Exome Variant Server MTMR14_000064 1/4566 0/3182 1/1384
?/? c.1050+56T>C r.(=) p.(=) g.9726410T>C Copied from the Exome Variant Server MTMR14_000065 1/4566 1/3182 0/1384
?/? c.1051-60A>G r.(=) p.(=) g.9726512A>G Copied from the Exome Variant Server MTMR14_000066 1/4566 0/3182 1/1384
?/? c.1051-57G>T r.(=) p.(=) g.9726515G>T Copied from the Exome Variant Server MTMR14_000067 7/4566 0/3182 7/1384
?/? c.1051-37del r.(=) p.(=) g.9726535del Copied from the Exome Variant Server MTMR14_000068 30/11964 23/8036 7/3928
?/? c.1065C>T r.(=) p.(=) g.9726586C>T Copied from the Exome Variant Server MTMR14_000070 1/12430 1/8376 0/4054
?/? c.1067C>T r.(?) p.(Thr356Met) g.9726588C>T Copied from the Exome Variant Server MTMR14_000072 2/12432 1/8376 1/4056
?/? c.1068G>A r.(=) p.(=) g.9726589G>A Copied from the Exome Variant Server MTMR14_000074 1/12422 1/8366 0/4056
?/? c.1080C>T r.(=) p.(=) g.9726601C>T Copied from the Exome Variant Server MTMR14_000076 1/12394 1/8360 0/4034
?/? c.1125C>T r.(=) p.(=) g.9726646C>T Copied from the Exome Variant Server MTMR14_000077 87/12280 0/8320 87/3960
?/? c.1127+32C>T r.(=) p.(=) g.9726680C>T Copied from the Exome Variant Server MTMR14_000080 14/12276 2/8300 12/3976
?/? c.1127+48A>G r.(=) p.(=) g.9726696A>G Copied from the Exome Variant Server MTMR14_000081 28/12256 1/8296 27/3960
?/? c.1128-40T>C r.(=) p.(=) g.9726855T>C Copied from the Exome Variant Server MTMR14_000084 1/12824 1/8512 0/4312
?/? c.1128-20C>G r.(=) p.(=) g.9726875C>G Copied from the Exome Variant Server MTMR14_000086 1/12796 1/8504 0/4292
?/? c.1151G>A r.(?) p.(Ser384Asn) g.9726918G>A Copied from the Exome Variant Server MTMR14_000088 5/12740 0/8498 5/4242
?/? c.1164+17C>T r.(=) p.(=) g.9726948C>T Copied from the Exome Variant Server MTMR14_000069 2/12790 0/8516 2/4274
?/? c.1164+18G>A r.(=) p.(=) g.9726949G>A Copied from the Exome Variant Server MTMR14_000071 1/12786 0/8510 1/4276
?/? c.1164+37del r.(=) p.(=) g.9726968del Copied from the Exome Variant Server MTMR14_000073 1/12300 1/8162 0/4138
?/? c.1164+50G>A r.(=) p.(=) g.9726981G>A Copied from the Exome Variant Server MTMR14_000075 11/12842 1/8536 10/4306
?/? c.1164+58_1164+59insTA r.(=) p.(=) g.9726989_9726990insTA Copied from the Exome Variant Server MTMR14_000078 4/12348 0/8178 4/4170
?/? c.1164+67_1164+68insTT r.(=) p.(=) g.9726998_9726999insTT Copied from the Exome Variant Server MTMR14_000079 1/12390 0/8188 1/4202
?/? c.1164+71G>C r.(=) p.(=) g.9727002G>C Copied from the Exome Variant Server MTMR14_000082 648/4566 553/3182 95/1384
?/? c.1164+77C>T r.(=) p.(=) g.9727008C>T Copied from the Exome Variant Server MTMR14_000083 1/4566 1/3182 0/1384
?/? c.1165-23C>T r.(=) p.(=) g.9729482C>T Copied from the Exome Variant Server MTMR14_000085 1/12210 1/8270 0/3940
?/? c.1165-18C>T r.(=) p.(=) g.9729487C>T Copied from the Exome Variant Server MTMR14_000087 7/12232 0/8284 7/3948
?/? c.1168_1170del r.(?) p.(Phe392del) g.9729508_9729510del Copied from the Exome Variant Server MTMR14_000089 58/11616 43/7900 15/3716
?/? c.1219G>A r.(?) p.(Ala407Thr) g.9729559G>A Copied from the Exome Variant Server MTMR14_000090 1/12326 0/8338 1/3988
?/? c.1235+19G>A r.(=) p.(=) g.9729594G>A Copied from the Exome Variant Server MTMR14_000091 1/12540 0/8394 1/4146
?/? c.1235+27C>T r.(=) p.(=) g.9729602C>T Copied from the Exome Variant Server MTMR14_000092 29/12538 29/8386 0/4152
?/? c.1235+38C>T r.(=) p.(=) g.9729613C>T Copied from the Exome Variant Server MTMR14_000093 6/12558 6/8384 0/4174
?/? c.1236-68T>C r.(=) p.(=) g.9730312T>C Copied from the Exome Variant Server MTMR14_000094 8/4566 0/3182 8/1384
?/? c.1236-51_1236-49del r.(=) p.(=) g.9730329_9730331del Copied from the Exome Variant Server MTMR14_000095 25/11676 18/7946 7/3730
?/? c.1236-35G>C r.(=) p.(=) g.9730345G>C Copied from the Exome Variant Server MTMR14_000096 1/12158 1/8286 0/3872
?/? c.1236-16C>T r.(=) p.(=) g.9730364C>T Copied from the Exome Variant Server MTMR14_000097 1/12164 0/8282 1/3882
?/? c.1236-15G>A r.(=) p.(=) g.9730365G>A Copied from the Exome Variant Server MTMR14_000098 1/12160 0/8282 1/3878
?/? c.1256G>A r.(?) p.(Arg419Gln) g.9730400G>A Copied from the Exome Variant Server MTMR14_000099 1/12206 1/8290 0/3916
?/? c.1272C>T r.(=) p.(=) g.9730416C>T Copied from the Exome Variant Server MTMR14_000100 4/12268 0/8314 4/3954
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