Unique variants in gene GTPBP6

Information The variants shown are described using the NM_012227.2 transcript reference sequence.

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

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.7G>A r.(?) p.(Ala3Thr) g.230881C>T Copied from the Exome Variant Server GTPBP6_000183 1/12556 0/8394 1/4162
1 c.11T>C r.(?) p.(Leu4Pro) g.230877A>G Copied from the Exome Variant Server GTPBP6_000182 80/12550 2/8392 78/4158
1 c.23G>A N/A N/A g.230865C>T Copied from the Exome Variant Server GTPBP6_000181 1/12564 0/8398 1/4166
1 c.25C>T r.(?) p.(Arg9Cys) g.230863G>A Copied from the Exome Variant Server GTPBP6_000180 15/12564 13/8400 2/4164
1 c.26G>A r.(?) p.(Arg9His) g.230862C>T Copied from the Exome Variant Server GTPBP6_000179 29/12572 2/8406 27/4166
1 c.34G>A N/A N/A g.230854C>T Copied from the Exome Variant Server GTPBP6_000178 1/12574 1/8408 0/4166
1 c.39G>A r.(=) p.(=) g.230849C>T Copied from the Exome Variant Server GTPBP6_000177 1/12582 1/8408 0/4174
1 c.46C>T r.(?) p.(Arg16Cys) g.230842G>A Copied from the Exome Variant Server GTPBP6_000176 2/12594 1/8402 1/4192
1 c.47G>C r.(?) p.(Arg16Pro) g.230841C>G Copied from the Exome Variant Server GTPBP6_000175 5/12590 3/8394 2/4196
1 c.52G>A r.(?) p.(Gly18Ser) g.230836C>T Copied from the Exome Variant Server GTPBP6_000174 22/12576 17/8390 5/4186
1 c.53C>T N/A N/A g.230835G>A Copied from the Exome Variant Server GTPBP6_000173 1/12580 0/8396 1/4184
1 c.54G>A N/A N/A g.230834C>T Copied from the Exome Variant Server GTPBP6_000172 3/12578 3/8400 0/4178
1 c.69C>T N/A N/A g.230819G>A Copied from the Exome Variant Server GTPBP6_000171 3/12560 2/8390 1/4170
1 c.71+7C>T r.(=) p.(=) g.230810G>A Copied from the Exome Variant Server GTPBP6_000170 8/12528 3/8382 5/4146
1 c.71+8G>A r.(=) p.(=) g.230809C>T Copied from the Exome Variant Server GTPBP6_000169 2/12538 0/8382 2/4156
1 c.71+12C>G r.(=) p.(=) g.230805G>C Copied from the Exome Variant Server GTPBP6_000168 227/12536 1/8378 226/4158
1 c.71+13G>A r.(=) p.(=) g.230804C>T Copied from the Exome Variant Server GTPBP6_000167 2/12546 2/8378 0/4168
1 c.71+17G>A r.(=) p.(=) g.230800C>T Copied from the Exome Variant Server GTPBP6_000166 4/12530 1/8368 3/4162
1 c.71+19G>A r.(=) p.(=) g.230798C>T Copied from the Exome Variant Server GTPBP6_000165 8/12526 0/8364 8/4162
1 c.71+22G>A r.(=) p.(=) g.230795C>T Copied from the Exome Variant Server GTPBP6_000164 4/12522 1/8372 3/4150
1 c.71+25C>T r.(=) p.(=) g.230792G>A Copied from the Exome Variant Server GTPBP6_000163 2/12518 0/8374 2/4144
1 c.71+29A>G r.(=) p.(=) g.230788T>C Copied from the Exome Variant Server GTPBP6_000162 675/12510 566/8370 109/4140
1 c.71+37C>T r.(=) p.(=) g.230780G>A Copied from the Exome Variant Server GTPBP6_000161 685/12496 569/8366 116/4130
1 c.71+44C>T r.(=) p.(=) g.230773G>A Copied from the Exome Variant Server GTPBP6_000160 2/12474 1/8358 1/4116
1 c.71+45G>A r.(=) p.(=) g.230772C>T Copied from the Exome Variant Server GTPBP6_000159 23/12474 0/8356 23/4118
1 c.71+55G>A r.(=) p.(=) g.230762C>T Copied from the Exome Variant Server GTPBP6_000158 2/4566 1/3182 1/1384
1 c.72-36G>A r.(=) p.(=) g.229627C>T Copied from the Exome Variant Server GTPBP6_000157 1974/12228 1431/8276 543/3952
1 c.72-27C>T r.(=) p.(=) g.229618G>A Copied from the Exome Variant Server GTPBP6_000156 1/12238 1/8282 0/3956
1 c.72-26G>A r.(=) p.(=) g.229617C>T Copied from the Exome Variant Server GTPBP6_000155 1/12248 0/8284 1/3964
1 c.72-20C>T r.(=) p.(=) g.229611G>A Copied from the Exome Variant Server GTPBP6_000154 1/12270 1/8296 0/3974
1 c.72-13G>T r.(=) p.(=) g.229604C>A Copied from the Exome Variant Server GTPBP6_000153 1/12292 0/8300 1/3992
1 c.72-8T>A r.(=) p.(=) g.229599A>T Copied from the Exome Variant Server GTPBP6_000152 70/12318 1/8308 69/4010
1 c.72-7C>G r.(=) p.(=) g.229598G>C Copied from the Exome Variant Server GTPBP6_000151 9/12316 0/8308 9/4008
1 c.72-3T>C r.spl? p.? g.229594A>G Copied from the Exome Variant Server GTPBP6_000150 237/12308 2/8304 235/4004
1 c.83A>G N/A N/A g.229580T>C Copied from the Exome Variant Server GTPBP6_000149 1/12366 1/8312 0/4054
1 c.99G>A r.(=) p.(=) g.229564C>T Copied from the Exome Variant Server GTPBP6_000148 211/12404 4/8332 207/4072
1 c.106G>A N/A N/A g.229557C>T Copied from the Exome Variant Server GTPBP6_000147 464/12400 3/8338 461/4062
1 c.113A>G N/A N/A g.229550T>C Copied from the Exome Variant Server GTPBP6_000146 1/12404 1/8338 0/4066
1 c.117A>C N/A N/A g.229546T>G Copied from the Exome Variant Server GTPBP6_000145 1/12412 1/8336 0/4076
1 c.121C>T r.(?) p.(Arg41Cys) g.229542G>A Copied from the Exome Variant Server GTPBP6_000144 5103/12412 3431/8334 1672/4078
1 c.137T>G N/A N/A g.229526A>C Copied from the Exome Variant Server GTPBP6_000143 4/12410 3/8330 1/4080
1 c.150G>A r.(=) p.(=) g.229513C>T Copied from the Exome Variant Server GTPBP6_000142 7/12378 7/8314 0/4064
1 c.170C>T N/A N/A g.229493G>A Copied from the Exome Variant Server GTPBP6_000141 760/12324 563/8290 197/4034
1 c.183C>T r.(=) p.(=) g.229480G>A Copied from the Exome Variant Server GTPBP6_000140 11/12300 1/8276 10/4024
1 c.184G>A r.(?) p.(Gly62Ser) g.229479C>T Copied from the Exome Variant Server GTPBP6_000139 1/12296 1/8274 0/4022
1 c.189G>A N/A N/A g.229474C>T Copied from the Exome Variant Server GTPBP6_000138 2/12284 2/8270 0/4014
1 c.193G>C N/A N/A g.229470C>G Copied from the Exome Variant Server GTPBP6_000137 1/12290 1/8266 0/4024
1 c.199C>T N/A N/A g.229464G>A Copied from the Exome Variant Server GTPBP6_000136 2/12290 1/8270 1/4020
1 c.202G>T r.(?) p.(Asp68Tyr) g.229461C>A Copied from the Exome Variant Server GTPBP6_000135 42/12272 0/8262 42/4010
1 c.205C>G N/A N/A g.229458G>C Copied from the Exome Variant Server GTPBP6_000134 22/12266 2/8262 20/4004
1 c.212G>A N/A N/A g.229451C>T Copied from the Exome Variant Server GTPBP6_000133 4/12242 3/8252 1/3990
1 c.214G>A r.(?) p.(Glu72Lys) g.229449C>T Copied from the Exome Variant Server GTPBP6_000132 1/12248 0/8256 1/3992
1 c.230+8C>T r.(=) p.(=) g.229425G>A Copied from the Exome Variant Server GTPBP6_000131 653/12204 335/8242 318/3962
1 c.230+11G>A r.(=) p.(=) g.229422C>T Copied from the Exome Variant Server GTPBP6_000130 3/12126 0/8218 3/3908
1 c.230+16G>A r.(=) p.(=) g.229417C>T Copied from the Exome Variant Server GTPBP6_000129 2/12090 2/8200 0/3890
1 c.230+18G>A r.(=) p.(=) g.229415C>T Copied from the Exome Variant Server GTPBP6_000128 28/12088 0/8198 28/3890
1 c.230+22G>C r.(=) p.(=) g.229411C>G Copied from the Exome Variant Server GTPBP6_000127 2/12084 2/8192 0/3892
1 c.230+31G>A r.(=) p.(=) g.229402C>T Copied from the Exome Variant Server GTPBP6_000126 1/12070 0/8194 1/3876
1 c.230+33G>A r.(=) p.(=) g.229400C>T Copied from the Exome Variant Server GTPBP6_000125 1/12058 1/8190 0/3868
1 c.230+39C>T r.(=) p.(=) g.229394G>A Copied from the Exome Variant Server GTPBP6_000124 92/12046 41/8196 51/3850
1 c.230+43_230+44insGGGGTA r.(=) p.(=) g.229389_229390insTACCCC Copied from the Exome Variant Server GTPBP6_000123 4420/11494 2878/7814 1542/3680
1 c.230+48G>A r.(=) p.(=) g.229385C>T Copied from the Exome Variant Server GTPBP6_000122 10/12048 10/8178 0/3870
1 c.231-42C>T r.(=) p.(=) g.228336G>A Copied from the Exome Variant Server GTPBP6_000121 4/12804 2/8482 2/4322
1 c.231-41G>A r.(=) p.(=) g.228335C>T Copied from the Exome Variant Server GTPBP6_000120 1/12832 0/8498 1/4334
1 c.231-35A>G r.(=) p.(=) g.228329T>C Copied from the Exome Variant Server GTPBP6_000119 3229/12902 1401/8528 1828/4374
1 c.231-34T>C r.(=) p.(=) g.228328A>G Copied from the Exome Variant Server GTPBP6_000118 3/12902 0/8528 3/4374
1 c.231-25C>T r.(=) p.(=) g.228319G>A Copied from the Exome Variant Server GTPBP6_000117 25/12934 23/8544 2/4390
1 c.231-24G>A r.(=) p.(=) g.228318C>T Copied from the Exome Variant Server GTPBP6_000116 1/12940 1/8546 0/4394
1 c.231-17C>A r.(=) p.(=) g.228311G>T Copied from the Exome Variant Server GTPBP6_000115 2/12948 2/8552 0/4396
1 c.242C>T N/A N/A g.228283G>A Copied from the Exome Variant Server GTPBP6_000114 1/12974 1/8572 0/4402
1 c.255T>A N/A N/A g.228270A>T Copied from the Exome Variant Server GTPBP6_000113 1/12984 0/8582 1/4402
1 c.258C>T N/A N/A g.228267G>A Copied from the Exome Variant Server GTPBP6_000112 5/12986 1/8582 4/4404
1 c.259G>A r.(?) p.(Gly87Arg) g.228266C>T Copied from the Exome Variant Server GTPBP6_000111 31/12986 0/8582 31/4404
1 c.262C>T N/A N/A g.228263G>A Copied from the Exome Variant Server GTPBP6_000110 2/12986 1/8582 1/4404
1 c.269G>A N/A N/A g.228256C>T Copied from the Exome Variant Server GTPBP6_000109 129/12984 0/8580 129/4404
1 c.276A>C N/A N/A g.228249T>G Copied from the Exome Variant Server GTPBP6_000108 1/12986 0/8582 1/4404
1 c.278C>T r.(?) p.(Ala93Val) g.228247G>A Copied from the Exome Variant Server GTPBP6_000107 1/12986 1/8582 0/4404
1 c.300C>T N/A N/A g.228225G>A Copied from the Exome Variant Server GTPBP6_000106 2/12986 0/8580 2/4406
1 c.313G>A r.(?) p.(Val105Ile) g.228212C>T Copied from the Exome Variant Server GTPBP6_000105 1/12988 0/8582 1/4406
1 c.319C>T N/A N/A g.228206G>A Copied from the Exome Variant Server GTPBP6_000104 1/12992 1/8586 0/4406
1 c.320G>A r.(?) p.(Trp107*) g.228205C>T Copied from the Exome Variant Server GTPBP6_000103 18/12992 16/8586 2/4406
1 c.322G>A r.(?) p.(Gly108Ser) g.228203C>T Copied from the Exome Variant Server GTPBP6_000102 2/12996 0/8590 2/4406
1 c.327C>T N/A N/A g.228198G>A Copied from the Exome Variant Server GTPBP6_000101 14/12996 13/8590 1/4406
1 c.328G>A r.(?) p.(Gly110Arg) g.228197C>T Copied from the Exome Variant Server GTPBP6_000100 3/12996 3/8590 0/4406
1 c.346C>T r.(?) p.(Arg116*) g.228179G>A Copied from the Exome Variant Server GTPBP6_000099 1/12988 1/8584 0/4404
1 c.347G>A r.(?) p.(Arg116Gln) g.228178C>T Copied from the Exome Variant Server GTPBP6_000098 7/12986 4/8584 3/4402
1 c.354A>C N/A N/A g.228171T>G Copied from the Exome Variant Server GTPBP6_000097 1/12982 1/8580 0/4402
1 c.355C>T N/A N/A g.228170G>A Copied from the Exome Variant Server GTPBP6_000096 1/12978 0/8578 1/4400
1 c.376C>G N/A N/A g.228149G>C Copied from the Exome Variant Server GTPBP6_000095 166/12958 2/8564 164/4394
1 c.387C>T r.(=) p.(=) g.228138G>A Copied from the Exome Variant Server GTPBP6_000094 1/12944 1/8554 0/4390
1 c.388G>A N/A N/A g.228137C>T Copied from the Exome Variant Server GTPBP6_000093 2/12940 2/8554 0/4386
1 c.389C>T r.(?) p.(Thr130Met) g.228136G>A Copied from the Exome Variant Server GTPBP6_000092 24/12940 0/8550 24/4390
1 c.391C>T r.(=) p.(=) g.228134G>A Copied from the Exome Variant Server GTPBP6_000091 2/12938 2/8550 0/4388
1 c.401G>A r.(?) p.(Trp134*) g.228124C>T Copied from the Exome Variant Server GTPBP6_000090 1/12912 1/8534 0/4378
1 c.412C>T r.(?) p.(Gln138*) g.228113G>A Copied from the Exome Variant Server GTPBP6_000089 2/12888 1/8524 1/4364
1 c.413G>T N/A N/A g.228112C>A Copied from the Exome Variant Server GTPBP6_000088 7/12872 1/8518 6/4354
1 c.428G>A N/A N/A g.228097C>T Copied from the Exome Variant Server GTPBP6_000087 1/12796 0/8476 1/4320
1 c.439+4A>G r.spl? p.? g.228082T>C Copied from the Exome Variant Server GTPBP6_000086 3/12682 0/8420 3/4262
1 c.439+7G>A r.(=) p.(=) g.228079C>T Copied from the Exome Variant Server GTPBP6_000085 4/12650 0/8406 4/4244
1 c.439+14G>A r.(=) p.(=) g.228072C>T Copied from the Exome Variant Server GTPBP6_000084 38/12586 9/8386 29/4200
Legend   « First ‹ Prev     1 2     Next › Last »