All transcript variants in gene ACCSL

Information The variants shown are described using the NM_001031854.2 transcript reference sequence.

117 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.-32A>G r.(=) p.(=) g.44069555A>G Copied from the Exome Variant Server ACCSL_000001 1/12130 1/8280 0/3850
?/? c.-13A>G r.(=) p.(=) g.44069574A>G Copied from the Exome Variant Server ACCSL_000002 1/12148 1/8286 0/3862
?/? c.-6C>T r.(=) p.(=) g.44069581C>T Copied from the Exome Variant Server ACCSL_000003 2/12148 1/8282 1/3866
?/? c.3G>A r.? p.? g.44069589G>A Copied from the Exome Variant Server ACCSL_000004 158/12210 0/8304 158/3906
?/? c.11G>A r.(?) p.(Arg4Gln) g.44069597G>A Copied from the Exome Variant Server ACCSL_000005 2/12212 2/8304 0/3908
?/? c.32C>A r.(?) p.(Pro11His) g.44069618C>A Copied from the Exome Variant Server ACCSL_000006 2/12244 0/8316 2/3928
?/? c.98C>T r.(?) p.(Thr33Met) g.44069684C>T Copied from the Exome Variant Server ACCSL_000007 1/12562 1/8432 0/4130
?/? c.117C>A r.(=) p.(=) g.44069703C>A Copied from the Exome Variant Server ACCSL_000008 1/12636 1/8446 0/4190
?/? c.122C>T r.(?) p.(Thr41Met) g.44069708C>T Copied from the Exome Variant Server ACCSL_000009 2/12640 1/8442 1/4198
?/? c.133G>A r.(?) p.(Val45Met) g.44069719G>A Copied from the Exome Variant Server ACCSL_000010 21/12634 19/8446 2/4188
?/? c.148A>G r.(?) p.(Arg50Gly) g.44069734A>G Copied from the Exome Variant Server ACCSL_000011 5/12656 5/8458 0/4198
?/? c.162G>A r.(=) p.(=) g.44069748G>A Copied from the Exome Variant Server ACCSL_000012 9/12694 8/8466 1/4228
?/? c.189C>T r.(=) p.(=) g.44069775C>T Copied from the Exome Variant Server ACCSL_000013 1/12692 0/8468 1/4224
?/? c.218G>A r.(?) p.(Arg73His) g.44069804G>A Copied from the Exome Variant Server ACCSL_000014 20/12562 15/8428 5/4134
?/? c.226T>C r.(?) p.(Cys76Arg) g.44069812T>C Copied from the Exome Variant Server ACCSL_000015 1/12526 1/8410 0/4116
?/? c.230G>A r.(?) p.(Arg77Gln) g.44069816G>A Copied from the Exome Variant Server ACCSL_000016 2/12490 2/8406 0/4084
?/? c.259G>A r.(?) p.(Ala87Thr) g.44069845G>A Copied from the Exome Variant Server ACCSL_000017 2/12412 1/8370 1/4042
?/? c.260C>T r.(?) p.(Ala87Val) g.44069846C>T Copied from the Exome Variant Server ACCSL_000018 3/12410 2/8370 1/4040
?/? c.276C>T r.(=) p.(=) g.44069862C>T Copied from the Exome Variant Server ACCSL_000019 1/12346 1/8354 0/3992
?/? c.282G>A r.(=) p.(=) g.44069868G>A Copied from the Exome Variant Server ACCSL_000020 2/12324 2/8336 0/3988
?/? c.297G>A r.(=) p.(=) g.44069883G>A Copied from the Exome Variant Server ACCSL_000021 250/12230 4/8306 246/3924
?/? c.298G>A r.(?) p.(Asp100Asn) g.44069884G>A Copied from the Exome Variant Server ACCSL_000022 1/12230 1/8308 0/3922
?/? c.356C>T r.(?) p.(Pro119Leu) g.44069942C>T Copied from the Exome Variant Server ACCSL_000023 1/12212 1/8270 0/3942
?/? c.374A>G r.(?) p.(Asp125Gly) g.44069960A>G Copied from the Exome Variant Server ACCSL_000024 1/12208 1/8280 0/3928
?/? c.397C>T r.(?) p.(Arg133Cys) g.44069983C>T Copied from the Exome Variant Server ACCSL_000026 1/12156 0/8286 1/3870
?/? c.398G>A r.(?) p.(Arg133His) g.44069984G>A Copied from the Exome Variant Server ACCSL_000025 1/12138 0/8280 1/3858
?/? c.412C>T r.(?) p.(Arg138Cys) g.44069998C>T Copied from the Exome Variant Server ACCSL_000027 2/12086 1/8268 1/3818
?/? c.413G>A r.(?) p.(Arg138His) g.44069999G>A Copied from the Exome Variant Server ACCSL_000028 1/12084 1/8266 0/3818
?/? c.504+28G>A r.(=) p.(=) g.44070118G>A Copied from the Exome Variant Server ACCSL_000029 1/11344 1/7770 0/3574
?/? c.505-51G>A r.(=) p.(=) g.44071561G>A Copied from the Exome Variant Server ACCSL_000030 1/12492 0/8430 1/4062
?/? c.505-35G>A r.(=) p.(=) g.44071577G>A Copied from the Exome Variant Server ACCSL_000031 45/12624 41/8474 4/4150
?/? c.505-27C>G r.(=) p.(=) g.44071585C>G Copied from the Exome Variant Server ACCSL_000032 1/12652 0/8484 1/4168
?/? c.511A>G r.(?) p.(Ile171Val) g.44071618A>G Copied from the Exome Variant Server ACCSL_000033 1/12694 0/8484 1/4210
?/? c.549T>A r.(?) p.(Asp183Glu) g.44071656T>A Copied from the Exome Variant Server ACCSL_000034 2/12698 0/8482 2/4216
?/? c.564+9_564+10insT r.(=) p.(=) g.44071680_44071681insT Copied from the Exome Variant Server ACCSL_000035 1/12066 0/8078 1/3988
?/? c.564+22T>G r.(=) p.(=) g.44071693T>G Copied from the Exome Variant Server ACCSL_000037 17/12576 0/8444 17/4132
?/? c.564+58G>A r.(=) p.(=) g.44071729G>A Copied from the Exome Variant Server ACCSL_000039 21/4566 19/3182 2/1384
?/? c.564+72T>C r.(=) p.(=) g.44071743T>C Copied from the Exome Variant Server ACCSL_000041 311/4566 279/3182 32/1384
?/? c.565-50C>T r.(=) p.(=) g.44072052C>T Copied from the Exome Variant Server ACCSL_000043 1/12314 1/8336 0/3978
?/? c.565-3C>T r.spl? p.? g.44072099C>T Copied from the Exome Variant Server ACCSL_000045 2/12328 1/8340 1/3988
?/? c.590T>C r.(?) p.(Ile197Thr) g.44072127T>C Copied from the Exome Variant Server ACCSL_000047 2/12348 2/8362 0/3986
?/? c.599C>T r.(?) p.(Thr200Ile) g.44072136C>T Copied from the Exome Variant Server ACCSL_000049 1/12320 1/8350 0/3970
?/? c.619T>C r.(?) p.(Trp207Arg) g.44072156T>C Copied from the Exome Variant Server ACCSL_000051 1/12270 1/8342 0/3928
?/? c.635+14A>T r.(=) p.(=) g.44072186A>T Copied from the Exome Variant Server ACCSL_000053 1/12192 0/8316 1/3876
?/? c.636-41del r.(=) p.(=) g.44072844del Copied from the Exome Variant Server ACCSL_000055 16/11492 15/7866 1/3626
?/? c.636-35C>T r.(=) p.(=) g.44072850C>T Copied from the Exome Variant Server ACCSL_000057 71/12010 0/8218 71/3792
?/? c.636-34G>A r.(=) p.(=) g.44072851G>A Copied from the Exome Variant Server ACCSL_000059 4/11992 0/8218 4/3774
?/? c.636-3C>T r.spl? p.? g.44072882C>T Copied from the Exome Variant Server ACCSL_000061 8/12070 0/8230 8/3840
?/? c.655C>T r.(?) p.(Arg219Trp) g.44072904C>T Copied from the Exome Variant Server ACCSL_000063 1/12116 0/8252 1/3864
?/? c.656G>A r.(?) p.(Arg219Gln) g.44072905G>A Copied from the Exome Variant Server ACCSL_000065 2/12122 0/8262 2/3860
?/? c.688C>T r.(?) p.(Arg230*) g.44072937C>T Copied from the Exome Variant Server ACCSL_000036 1/12152 0/8280 1/3872
?/? c.705+18C>G r.(=) p.(=) g.44072972C>G Copied from the Exome Variant Server ACCSL_000038 47/12160 0/8276 47/3884
?/? c.705+62C>T r.(=) p.(=) g.44073016C>T Copied from the Exome Variant Server ACCSL_000040 1/4566 1/3182 0/1384
?/? c.706-28A>T r.(=) p.(=) g.44073175A>T Copied from the Exome Variant Server ACCSL_000042 287/12582 258/8408 29/4174
?/? c.706-23T>C r.(=) p.(=) g.44073180T>C Copied from the Exome Variant Server ACCSL_000044 184/12582 2/8410 182/4172
?/? c.706-3C>T r.spl? p.? g.44073200C>T Copied from the Exome Variant Server ACCSL_000046 10/12592 9/8416 1/4176
?/? c.706G>A r.(?) p.(Val236Met) g.44073203G>A Copied from the Exome Variant Server ACCSL_000048 3/12602 3/8414 0/4188
?/? c.720T>C r.(=) p.(=) g.44073217T>C Copied from the Exome Variant Server ACCSL_000050 12/12614 0/8418 12/4196
?/? c.728G>T r.(?) p.(Cys243Phe) g.44073225G>T Copied from the Exome Variant Server ACCSL_000052 2/12646 0/8432 2/4214
?/? c.738C>T r.(=) p.(=) g.44073235C>T Copied from the Exome Variant Server ACCSL_000054 23/12628 0/8422 23/4206
?/? c.747G>A r.(=) p.(=) g.44073244G>A Copied from the Exome Variant Server ACCSL_000056 1/12602 1/8416 0/4186
?/? c.771C>T r.(=) p.(=) g.44073268C>T Copied from the Exome Variant Server ACCSL_000058 10/12584 0/8428 10/4156
?/? c.772+52T>G r.(=) p.(=) g.44073321T>G Copied from the Exome Variant Server ACCSL_000060 37/6756 19/4406 18/2350
?/? c.773-35_773-34del r.(=) p.(=) g.44074177_44074178del Copied from the Exome Variant Server ACCSL_000062 1/11496 0/7884 1/3612
?/? c.773-20C>G r.(=) p.(=) g.44074192C>G Copied from the Exome Variant Server ACCSL_000064 13/12042 11/8248 2/3794
?/? c.823C>T r.(?) p.(Arg275Cys) g.44074262C>T Copied from the Exome Variant Server ACCSL_000066 1/12176 0/8282 1/3894
?/? c.864G>A r.(=) p.(=) g.44074303G>A Copied from the Exome Variant Server ACCSL_000067 72/12158 40/8268 32/3890
?/? c.871-32G>A r.(=) p.(=) g.44074509G>A Copied from the Exome Variant Server ACCSL_000068 194/12154 3/8294 191/3860
?/? c.948+39G>A r.(=) p.(=) g.44074657G>A Copied from the Exome Variant Server ACCSL_000069 1/12088 1/8256 0/3832
?/? c.949-51G>A r.(=) p.(=) g.44074905G>A Copied from the Exome Variant Server ACCSL_000070 263/11836 9/8170 254/3666
?/? c.949-27A>C r.(=) p.(=) g.44074929A>C Copied from the Exome Variant Server ACCSL_000071 1/11830 1/8158 0/3672
?/? c.949-16T>C r.(=) p.(=) g.44074940T>C Copied from the Exome Variant Server ACCSL_000072 2/11822 2/8160 0/3662
?/? c.949-13G>T r.(=) p.(=) g.44074943G>T Copied from the Exome Variant Server ACCSL_000073 1/11816 0/8156 1/3660
?/? c.957G>T r.(?) p.(Lys319Asn) g.44074964G>T Copied from the Exome Variant Server ACCSL_000074 1/11842 0/8170 1/3672
?/? c.966C>A r.(=) p.(=) g.44074973C>A Copied from the Exome Variant Server ACCSL_000075 1/11870 0/8170 1/3700
?/? c.975A>G r.(=) p.(=) g.44074982A>G Copied from the Exome Variant Server ACCSL_000076 1/11868 0/8170 1/3698
?/? c.1029A>G r.(=) p.(=) g.44075036A>G Copied from the Exome Variant Server ACCSL_000077 1/11964 0/8214 1/3750
?/? c.1043C>A r.(?) p.(Ala348Asp) g.44075050C>A Copied from the Exome Variant Server ACCSL_000078 1/11948 0/8204 1/3744
?/? c.1049+51A>G r.(=) p.(=) g.44075107A>G Copied from the Exome Variant Server ACCSL_000079 1/12018 0/8214 1/3804
?/? c.1050-33G>A r.(=) p.(=) g.44076719G>A Copied from the Exome Variant Server ACCSL_000080 1/12040 0/8248 1/3792
?/? c.1050-31T>C r.(=) p.(=) g.44076721T>C Copied from the Exome Variant Server ACCSL_000081 1/12032 1/8246 0/3786
?/? c.1070T>C r.(?) p.(Ile357Thr) g.44076772T>C Copied from the Exome Variant Server ACCSL_000082 1/12120 1/8272 0/3848
?/? c.1072G>C r.(?) p.(Asp358His) g.44076774G>C Copied from the Exome Variant Server ACCSL_000083 1/12132 1/8280 0/3852
?/? c.1074T>C r.(=) p.(=) g.44076776T>C Copied from the Exome Variant Server ACCSL_000084 1/12134 1/8276 0/3858
?/? c.1089G>C r.(=) p.(=) g.44076791G>C Copied from the Exome Variant Server ACCSL_000085 3/12150 3/8286 0/3864
?/? c.1114T>C r.(?) p.(Phe372Leu) g.44076816T>C Copied from the Exome Variant Server ACCSL_000086 1/12226 1/8320 0/3906
?/? c.1139+29C>T r.(=) p.(=) g.44076870C>T Copied from the Exome Variant Server ACCSL_000087 69/12226 1/8330 68/3896
?/? c.1144C>G r.(?) p.(Pro382Ala) g.44077594C>G Copied from the Exome Variant Server ACCSL_000088 4/11988 0/8230 4/3758
?/? c.1154A>G r.(?) p.(Asn385Ser) g.44077604A>G Copied from the Exome Variant Server ACCSL_000089 1/12042 0/8244 1/3798
?/? c.1185+2T>G r.spl? p.? g.44077637T>G Copied from the Exome Variant Server ACCSL_000090 1/12122 1/8262 0/3860
?/? c.1185+9T>C r.(=) p.(=) g.44077644T>C Copied from the Exome Variant Server ACCSL_000092 11/12150 0/8270 11/3880
?/? c.1185+13T>G r.(=) p.(=) g.44077648T>G Copied from the Exome Variant Server ACCSL_000094 1/12130 1/8262 0/3868
?/? c.1186-27T>C r.(=) p.(=) g.44077708T>C Copied from the Exome Variant Server ACCSL_000096 1/12278 1/8308 0/3970
?/? c.1208G>A r.(?) p.(Arg403His) g.44077757G>A Copied from the Exome Variant Server ACCSL_000098 1/12326 1/8328 0/3998
?/? c.1233C>T r.(=) p.(=) g.44077782C>T Copied from the Exome Variant Server ACCSL_000100 1/12328 1/8346 0/3982
?/? c.1286G>T r.(?) p.(Gly429Val) g.44077835G>T Copied from the Exome Variant Server ACCSL_000102 1/12352 1/8364 0/3988
?/? c.1299C>T r.(=) p.(=) g.44077848C>T Copied from the Exome Variant Server ACCSL_000104 1/12362 0/8362 1/4000
?/? c.1327+47C>T r.(=) p.(=) g.44077923C>T Copied from the Exome Variant Server ACCSL_000106 1/12236 1/8318 0/3918
?/? c.1328-36A>G r.(=) p.(=) g.44079831A>G Copied from the Exome Variant Server ACCSL_000108 1363/11952 893/8214 470/3738
?/? c.1348C>T r.(=) p.(=) g.44079887C>T Copied from the Exome Variant Server ACCSL_000110 1/12068 0/8240 1/3828
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