All transcript variants in gene ASMTL

Information The variants shown are described using the NM_004192.3 transcript reference sequence.

260 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.-46_-45insG r.(=) p.(=) g.1571778_1571779insC Copied from the Exome Variant Server ASMTL_000260 4/9984 0/6894 4/3090
?/? c.-35A>T r.(=) p.(=) g.1571768T>A Copied from the Exome Variant Server ASMTL_000259 4/11454 4/7864 0/3590
?/? c.-1C>T r.(=) p.(=) g.1571734G>A Copied from the Exome Variant Server ASMTL_000258 1/11988 1/8158 0/3830
?/? c.21T>C r.(=) p.(=) g.1571713A>G Copied from the Exome Variant Server ASMTL_000257 6/12106 6/8222 0/3884
?/? c.41G>A r.(?) p.(Arg14His) g.1571693C>T Copied from the Exome Variant Server ASMTL_000256 1/12138 1/8240 0/3898
?/? c.45G>A r.(=) p.(=) g.1571689C>T Copied from the Exome Variant Server ASMTL_000255 1/12122 1/8234 0/3888
?/? c.92C>G r.(?) p.(Ala31Gly) g.1571642G>C Copied from the Exome Variant Server ASMTL_000254 6/12010 3/8186 3/3824
?/? c.93+12G>A r.(=) p.(=) g.1571629C>T Copied from the Exome Variant Server ASMTL_000253 8/11894 0/8146 8/3748
?/? c.94-52C>A r.(=) p.(=) g.1561262G>T Copied from the Exome Variant Server ASMTL_000252 2/6416 2/4290 0/2126
?/? c.94-46A>C r.(=) p.(=) g.1561256T>G Copied from the Exome Variant Server ASMTL_000251 1/12130 1/8266 0/3864
?/? c.94-32T>C r.(=) p.(=) g.1561242A>G Copied from the Exome Variant Server ASMTL_000250 126/12112 94/8270 32/3842
?/? c.94-25T>C r.(=) p.(=) g.1561235A>G Copied from the Exome Variant Server ASMTL_000249 2/12078 0/8256 2/3822
?/? c.94-22G>C r.(=) p.(=) g.1561232C>G Copied from the Exome Variant Server ASMTL_000248 8/12066 0/8246 8/3820
?/? c.154G>A r.(?) p.(Ala52Thr) g.1561150C>T Copied from the Exome Variant Server ASMTL_000247 5/12014 0/8208 5/3806
?/? c.162G>A r.(=) p.(=) g.1561142C>T Copied from the Exome Variant Server ASMTL_000246 1/12006 0/8204 1/3802
?/? c.178G>A r.(?) p.(Glu60Lys) g.1561126C>T Copied from the Exome Variant Server ASMTL_000245 1/12000 1/8206 0/3794
?/? c.184G>A r.(?) p.(Ala62Thr) g.1561120C>T Copied from the Exome Variant Server ASMTL_000244 1/11978 0/8198 1/3780
?/? c.225+41T>C r.(=) p.(=) g.1561038A>G Copied from the Exome Variant Server ASMTL_000243 1/11942 1/8200 0/3742
?/? c.225+45G>A r.(=) p.(=) g.1561034C>T Copied from the Exome Variant Server ASMTL_000242 1/11992 1/8210 0/3782
?/? c.226-77C>T r.(=) p.(=) g.1558114G>A Copied from the Exome Variant Server ASMTL_000241 1/4566 0/3182 1/1384
?/? c.226-76G>A r.(=) p.(=) g.1558113C>T Copied from the Exome Variant Server ASMTL_000240 3/4566 0/3182 3/1384
?/? c.226-75C>G r.(=) p.(=) g.1558112G>C Copied from the Exome Variant Server ASMTL_000239 48/4566 0/3182 48/1384
?/? c.226-72G>A r.(=) p.(=) g.1558109C>T Copied from the Exome Variant Server ASMTL_000238 10/4566 0/3182 10/1384
?/? c.226-38G>A r.(=) p.(=) g.1558075C>T Copied from the Exome Variant Server ASMTL_000237 1/12042 0/8228 1/3814
?/? c.226-35C>T r.(=) p.(=) g.1558072G>A Copied from the Exome Variant Server ASMTL_000236 4620/12046 3002/8232 1618/3814
?/? c.226-34G>A r.(=) p.(=) g.1558071C>T Copied from the Exome Variant Server ASMTL_000235 3/12038 2/8226 1/3812
?/? c.226-32C>T r.(=) p.(=) g.1558069G>A Copied from the Exome Variant Server ASMTL_000234 1/12030 0/8224 1/3806
?/? c.226-29C>T r.(=) p.(=) g.1558066G>A Copied from the Exome Variant Server ASMTL_000233 1/12030 0/8224 1/3806
?/? c.226-20G>A r.(=) p.(=) g.1558057C>T Copied from the Exome Variant Server ASMTL_000232 11/12010 2/8218 9/3792
?/? c.226-3C>G r.spl? p.? g.1558040G>C Copied from the Exome Variant Server ASMTL_000231 1/12010 1/8224 0/3786
?/? c.235C>T r.(?) p.(Arg79Trp) g.1558028G>A Copied from the Exome Variant Server ASMTL_000230 27/12008 25/8216 2/3792
?/? c.261G>A r.(=) p.(=) g.1558002C>T Copied from the Exome Variant Server ASMTL_000229 1/12368 1/8326 0/4042
?/? c.267G>A r.(=) p.(=) g.1557996C>T Copied from the Exome Variant Server ASMTL_000228 1/12412 0/8334 1/4078
?/? c.270C>G r.(?) p.(Ile90Met) g.1557993G>C Copied from the Exome Variant Server ASMTL_000227 93/12422 88/8332 5/4090
?/? c.273+10G>A r.(=) p.(=) g.1557980C>T Copied from the Exome Variant Server ASMTL_000226 1/12492 0/8366 1/4126
?/? c.273+19C>G r.(=) p.(=) g.1557971G>C Copied from the Exome Variant Server ASMTL_000225 16/12504 16/8366 0/4138
?/? c.273+23G>A r.(=) p.(=) g.1557967C>T Copied from the Exome Variant Server ASMTL_000224 1/12510 1/8372 0/4138
?/? c.273+57G>C r.(=) p.(=) g.1557933C>G Copied from the Exome Variant Server ASMTL_000223 2/4566 0/3182 2/1384
?/? c.274-65G>A r.(=) p.(=) g.1554716C>T Copied from the Exome Variant Server ASMTL_000222 4/4566 0/3182 4/1384
?/? c.274-48C>G r.(=) p.(=) g.1554699G>C Copied from the Exome Variant Server ASMTL_000221 30/12424 0/8326 30/4098
?/? c.274-38C>T r.(=) p.(=) g.1554689G>A Copied from the Exome Variant Server ASMTL_000220 1/12336 1/8306 0/4030
?/? c.274-37G>A r.(=) p.(=) g.1554688C>T Copied from the Exome Variant Server ASMTL_000219 6/12308 6/8292 0/4016
?/? c.274-26A>G r.(=) p.(=) g.1554677T>C Copied from the Exome Variant Server ASMTL_000218 25/12302 0/8294 25/4008
?/? c.274-12T>C r.(=) p.(=) g.1554663A>G Copied from the Exome Variant Server ASMTL_000217 1/12212 1/8262 0/3950
?/? c.274-4A>G r.spl? p.? g.1554655T>C Copied from the Exome Variant Server ASMTL_000216 4336/12154 2668/8238 1668/3916
?/? c.276A>G r.(=) p.(=) g.1554649T>C Copied from the Exome Variant Server ASMTL_000215 4561/12158 2726/8250 1835/3908
?/? c.280G>A r.(?) p.(Gly94Arg) g.1554645C>T Copied from the Exome Variant Server ASMTL_000214 13/12154 13/8248 0/3906
?/? c.303G>A r.(=) p.(=) g.1554622C>T Copied from the Exome Variant Server ASMTL_000213 1/12200 1/8268 0/3932
?/? c.337C>T r.(?) p.(Arg113Trp) g.1554588G>A Copied from the Exome Variant Server ASMTL_000212 1/12340 0/8320 1/4020
?/? c.338G>A r.(?) p.(Arg113Gln) g.1554587C>T Copied from the Exome Variant Server ASMTL_000211 35/12342 34/8322 1/4020
?/? c.338+17C>T r.(=) p.(=) g.1554570G>A Copied from the Exome Variant Server ASMTL_000210 2/12394 0/8340 2/4054
?/? c.338+26C>T r.(=) p.(=) g.1554561G>A Copied from the Exome Variant Server ASMTL_000209 1/12400 1/8338 0/4062
?/? c.338+39G>C r.(=) p.(=) g.1554548C>G Copied from the Exome Variant Server ASMTL_000208 3/12452 2/8344 1/4108
?/? c.339-60C>T r.(=) p.(=) g.1554036G>A Copied from the Exome Variant Server ASMTL_000207 1/4566 0/3182 1/1384
?/? c.339-48C>T r.(=) p.(=) g.1554024G>A Copied from the Exome Variant Server ASMTL_000206 79/12662 74/8428 5/4234
?/? c.339-46C>T r.(=) p.(=) g.1554022G>A Copied from the Exome Variant Server ASMTL_000205 2/12660 1/8430 1/4230
?/? c.339-44C>T r.(=) p.(=) g.1554020G>A Copied from the Exome Variant Server ASMTL_000204 1/12650 0/8426 1/4224
?/? c.339-16C>T r.(=) p.(=) g.1553992G>A Copied from the Exome Variant Server ASMTL_000203 1/12688 1/8444 0/4244
?/? c.339-15G>C r.(=) p.(=) g.1553991C>G Copied from the Exome Variant Server ASMTL_000202 3/12686 0/8446 3/4240
?/? c.339-3C>T r.spl? p.? g.1553979G>A Copied from the Exome Variant Server ASMTL_000201 1/12686 1/8436 0/4250
?/? c.339G>C r.(=) p.(=) g.1553976C>G Copied from the Exome Variant Server ASMTL_000200 1/12680 0/8440 1/4240
?/? c.372_376del r.(?) p.(Val125Aspfs*114) g.1553939_1553943del Copied from the Exome Variant Server ASMTL_000199 11/12040 11/8034 0/4006
?/? c.376G>A r.(?) p.(Ala126Thr) g.1553939C>T Copied from the Exome Variant Server ASMTL_000198 2/12568 1/8404 1/4164
?/? c.381C>T r.(=) p.(=) g.1553934G>A Copied from the Exome Variant Server ASMTL_000197 2/12562 0/8394 2/4168
?/? c.400+7G>A r.(=) p.(=) g.1553908C>T Copied from the Exome Variant Server ASMTL_000196 1/12354 0/8316 1/4038
?/? c.400+8C>T r.(=) p.(=) g.1553907G>A Copied from the Exome Variant Server ASMTL_000195 1771/12348 861/8312 910/4036
?/? c.400+20C>T r.(=) p.(=) g.1553895G>A Copied from the Exome Variant Server ASMTL_000194 3/12254 2/8284 1/3970
?/? c.400+31C>A r.(=) p.(=) g.1553884G>T Copied from the Exome Variant Server ASMTL_000193 54/12174 0/8258 54/3916
?/? c.400+43C>G r.(=) p.(=) g.1553872G>C Copied from the Exome Variant Server ASMTL_000192 2323/12108 1947/8230 376/3878
?/? c.400+49C>T r.(=) p.(=) g.1553866G>A Copied from the Exome Variant Server ASMTL_000191 1/12100 1/8228 0/3872
?/? c.400+60C>G r.(=) p.(=) g.1553855G>C Copied from the Exome Variant Server ASMTL_000190 2/4566 0/3182 2/1384
?/? c.401-29C>T r.(=) p.(=) g.1551299G>A Copied from the Exome Variant Server ASMTL_000189 1/12784 1/8488 0/4296
?/? c.401-27C>T r.(=) p.(=) g.1551297G>A Copied from the Exome Variant Server ASMTL_000188 1/12778 0/8492 1/4286
?/? c.404A>G r.(?) p.(His135Arg) g.1551267T>C Copied from the Exome Variant Server ASMTL_000187 7/12714 0/8442 7/4272
?/? c.450G>A r.(=) p.(=) g.1551221C>T Copied from the Exome Variant Server ASMTL_000186 1/12416 0/8322 1/4094
?/? c.459G>A r.(=) p.(=) g.1551212C>T Copied from the Exome Variant Server ASMTL_000185 1/12360 0/8312 1/4048
?/? c.474G>C r.(?) p.(Glu158Asp) g.1551197C>G Copied from the Exome Variant Server ASMTL_000184 2/12274 0/8282 2/3992
?/? c.498C>T r.(=) p.(=) g.1551173G>A Copied from the Exome Variant Server ASMTL_000183 331/12124 309/8242 22/3882
?/? c.509+14G>T r.(=) p.(=) g.1551148C>A Copied from the Exome Variant Server ASMTL_000182 2/12002 1/8190 1/3812
?/? c.509+21G>T r.(=) p.(=) g.1551141C>A Copied from the Exome Variant Server ASMTL_000181 1/11984 0/8178 1/3806
?/? c.509+26C>T r.(=) p.(=) g.1551136G>A Copied from the Exome Variant Server ASMTL_000180 2/11984 2/8176 0/3808
?/? c.509+35C>T r.(=) p.(=) g.1551127G>A Copied from the Exome Variant Server ASMTL_000179 379/11968 3/8178 376/3790
?/? c.510-48G>A r.(=) p.(=) g.1547062C>T Copied from the Exome Variant Server ASMTL_000178 4/12074 0/8248 4/3826
?/? c.510-7C>T r.(=) p.(=) g.1547021G>A Copied from the Exome Variant Server ASMTL_000177 1/12080 0/8248 1/3832
?/? c.522C>T r.(=) p.(=) g.1547002G>A Copied from the Exome Variant Server ASMTL_000176 1/12102 1/8254 0/3848
?/? c.524G>A r.(?) p.(Gly175Asp) g.1547000C>T Copied from the Exome Variant Server ASMTL_000175 1/12114 1/8250 0/3864
?/? c.529G>A r.(?) p.(Gly177Arg) g.1546995C>T Copied from the Exome Variant Server ASMTL_000174 2/12102 1/8248 1/3854
?/? c.531G>T r.(=) p.(=) g.1546993C>A Copied from the Exome Variant Server ASMTL_000173 459/12112 1/8248 458/3864
?/? c.565G>A r.(?) p.(Val189Ile) g.1546959C>T Copied from the Exome Variant Server ASMTL_000172 1/12214 0/8248 1/3966
?/? c.570C>T r.(=) p.(=) g.1546954G>A Copied from the Exome Variant Server ASMTL_000171 77/12214 71/8252 6/3962
?/? c.571G>A r.(?) p.(Gly191Arg) g.1546953C>T Copied from the Exome Variant Server ASMTL_000170 1/12212 1/8254 0/3958
?/? c.575A>G r.(?) p.(Asp192Gly) g.1546949T>C Copied from the Exome Variant Server ASMTL_000169 1/12216 0/8254 1/3962
?/? c.583A>T r.(?) p.(Asn195Tyr) g.1546941T>A Copied from the Exome Variant Server ASMTL_000168 1/12202 0/8252 1/3950
?/? c.597C>A r.(?) p.(Phe199Leu) g.1546927G>T Copied from the Exome Variant Server ASMTL_000167 23/12208 0/8250 23/3958
?/? c.629A>G r.(?) p.(Lys210Arg) g.1546895T>C Copied from the Exome Variant Server ASMTL_000166 1/12186 1/8246 0/3940
?/? c.633C>A r.(=) p.(=) g.1546891G>T Copied from the Exome Variant Server ASMTL_000165 1/12170 1/8240 0/3930
?/? c.635A>G r.(?) p.(Tyr212Cys) g.1546889T>C Copied from the Exome Variant Server ASMTL_000164 1/12172 0/8242 1/3930
?/? c.646C>T r.(?) p.(Arg216Cys) g.1546878G>A Copied from the Exome Variant Server ASMTL_000163 1/12170 1/8236 0/3934
?/? c.648T>C r.(=) p.(=) g.1546876A>G Copied from the Exome Variant Server ASMTL_000162 7823/12156 5719/8230 2104/3926
?/? c.655G>A r.(?) p.(Asp219Asn) g.1546869C>T Copied from the Exome Variant Server ASMTL_000161 1/12174 1/8232 0/3942
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