All transcript variants in gene ABHD12

Information The variants shown are described using the NM_015600.4 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-50_-49insG r.(=) p.(=) g.25371388_25371389insC - ABHD12_000050 rs745695417 - - - - - - Admin
./. - c.-44C>G r.(=) p.(=) g.25371383G>C - ABHD12_000049 rs373200654 0.022 9 418 1034 - - Admin
./. - c.-40_-39insGGCGGAGGC r.(=) p.(=) g.25371378_25371379insGCCTCCGCC - ABHD12_000048 rs145380090 - - - - - - Admin
./. - c.65C>G r.(?) p.(Ser22Cys) g.25371275G>C - ABHD12_000047 - 0.001938 1 516 5099 1 0 Admin
./. - c.191+10C>T r.(=) p.(=) g.25371139G>A - ABHD12_000046 rs770190326 0.001976 1 506 2202 - - Admin
./. - c.191+24G>A r.(=) p.(=) g.25371125C>T - ABHD12_000045 rs77202707 0.002066 1 484 1650 - - Admin
./. - c.191+24G>C r.(=) p.(=) g.25371125C>G - ABHD12_000043 rs77202707 0.583 282 484 1650 - - Admin
./. - c.191+24G>T r.(=) p.(=) g.25371125C>A - ABHD12_000044 rs77202707 0.004132 2 484 1650 - - Admin
./. - c.191+30_191+36del r.(=) p.(=) g.25371113_25371119del - ABHD12_000042 rs139848340 0.001938 1 516 8478 1 0 Admin
./. - c.191+31_191+36del r.(=) p.(=) g.25371113_25371118del - ABHD12_000041 rs139848340 0.001938 1 516 8478 1 0 Admin
./. - c.191+36C>G r.(=) p.(=) g.25371113G>C - ABHD12_000040 rs6115166 0.084 33 394 1391 - - Admin
./. - c.192-413C>G r.(=) p.(=) g.25320400G>C - ABHD12_000039 rs185329556 0.003968 2 504 1381 - - Admin
./. - c.192-241A>T r.(=) p.(=) g.25320228T>A - ABHD12_000038 rs6050544 0.566 292 516 4259 - - Admin
./. - c.192-68A>G r.(=) p.(=) g.25320055T>C - ABHD12_000037 rs940074109 0.001938 1 516 8478 1 0 Admin
./. - c.202G>A r.(?) p.(Val68Met) g.25319977C>T - ABHD12_000036 rs11904930 0.007752 4 516 8516 - - Admin
./. - c.317-45T>C r.(=) p.(=) g.25304111A>G - ABHD12_000035 rs76752183 0.014 7 516 4533 - - Admin
./. - c.422+29C>T r.(=) p.(=) g.25303932G>A - ABHD12_000034 rs62213662 0.066 34 516 4064 - - Admin
./. - c.422+69G>C r.(=) p.(=) g.25303892C>G - ABHD12_000033 rs114038555 0.003876 2 516 3589 - - Admin
./. - c.423-81T>C r.(=) p.(=) g.25301035A>G - ABHD12_000032 rs73907308 0.005859 3 512 2769 - - Admin
./. - c.423-68C>T r.(=) p.(=) g.25301022G>A - ABHD12_000031 rs2274890 0.228 117 514 3421 - - Admin
./. - c.454G>A r.(?) p.(Ala152Thr) g.25300923C>T - ABHD12_000030 rs569637456 0.001938 1 516 7329 - - Admin
./. - c.543-47C>A r.(=) p.(=) g.25297761G>T - ABHD12_000029 rs367893490 0.001938 1 516 4743 - - Admin
./. - c.573+44T>C r.(=) p.(=) g.25297640A>G - ABHD12_000028 rs41297630 0.007752 4 516 5239 - - Admin
./. - c.573+186G>A r.(=) p.(=) g.25297498C>T - ABHD12_000027 rs550522856 0.003891 2 514 1761 - - Admin
./. - c.574-181A>G r.(=) p.(=) g.25295787T>C - ABHD12_000026 rs2297496 0.496 244 492 1348 - - Admin
./. - c.574-148G>A r.(=) p.(=) g.25295754C>T - ABHD12_000025 rs73904062 0.001946 1 514 1848 - - Admin
./. - c.619+52G>A r.(=) p.(=) g.25295509C>T - ABHD12_000024 rs1048427865 0.001938 1 516 3226 1 0 Admin
./. - c.641C>T r.(?) p.(Thr214Met) g.25290190G>A - ABHD12_000023 rs148799594 0.003876 2 516 8845 - - Admin
./. - c.787+80G>T r.(=) p.(=) g.25289013C>A - ABHD12_000022 rs137947761 0.006148 3 488 957 - - Admin
./. - c.787+123G>A r.(=) p.(=) g.25288970C>T - ABHD12_000021 rs371474566 0.004386 2 456 716 - - Admin
./. - c.837C>T r.(=) p.(=) g.25288632G>A - ABHD12_000020 rs6107027 0.461 238 516 9314 - - Admin
./. - c.867+25T>A r.(=) p.(=) g.25288577A>T - ABHD12_000019 rs191089093 0.005814 3 516 4026 - - Admin
./. - c.867+38_867+40del r.(=) p.(=) g.25288562_25288564del - ABHD12_000018 rs759550508 0.45 163 362 697 - - Admin
./. - c.867+97G>A r.(=) p.(=) g.25288505C>T - ABHD12_000017 rs884613 0.45 163 362 697 - - Admin
./. - c.868-185G>T r.(=) p.(=) g.25287736C>A - ABHD12_000016 rs41310161 0.003953 2 506 1344 - - Admin
./. - c.868-86T>A r.(=) p.(=) g.25287637A>T - ABHD12_000015 rs189760008 0.003876 2 516 4595 - - Admin
./. - c.868-73C>T r.(=) p.(=) g.25287624G>A - ABHD12_000014 rs923113462 0.001938 1 516 5033 1 0 Admin
./. - c.868-32G>T r.(=) p.(=) g.25287583C>A - ABHD12_000013 rs376340408 0.001938 1 516 6568 - - Admin
./. - c.951-138G>A r.(=) p.(=) g.25284402C>T - ABHD12_000012 rs142531256 0.001938 1 516 9001 - - Admin
./. - c.951-79A>G r.(=) p.(=) g.25284343T>C - ABHD12_000011 rs2260197 0.607 313 516 12072 - - Admin
./. - c.1029+62G>T r.(=) p.(=) g.25284124C>A - ABHD12_000010 rs45545632 0.025 13 516 3878 - - Admin
./. - c.1041C>T r.(=) p.(=) g.25282971G>A - ABHD12_000009 rs188888939 0.001938 1 516 5222 - - Admin
./. - c.1045G>A r.(?) p.(Ala349Thr) g.25282967C>T - ABHD12_000008 rs746748 0.066 34 516 5419 - - Admin
./. - c.1068T>C r.(=) p.(=) g.25282944A>G - ABHD12_000007 rs10966 0.448 231 516 6110 - - Admin
./. - c.1140G>A r.(=) p.(=) g.25282872C>T - ABHD12_000006 - 0.001938 1 516 4854 1 0 Admin
./. - c.1148G>A r.(?) p.(Arg383Gln) g.25282864C>T - ABHD12_000005 rs139135254 0.001938 1 516 4456 - - Admin
./. - c.1157+54C>T r.(=) p.(=) g.25282801G>A - ABHD12_000004 rs1039217171 0.001938 1 516 2196 1 0 Admin
./. - c.1157+102G>A r.(=) p.(=) g.25282753C>T - ABHD12_000003 rs4358194 0.022 11 500 1190 - - Admin
./. - c.1157+1387G>T r.(=) p.(=) g.25281468C>A - ABHD12_000002 rs566046493 0.003876 2 516 7565 - - Admin
./. - c.1157+1457G>A r.(=) p.(=) g.25281398C>T - ABHD12_000001 rs2424708 0.405 209 516 3046 - - Admin
./. - c.1158-1565G>A r.(=) p.(=) g.25277231C>T - PYGB_000135 rs41282340 0.004098 2 488 1587 - - Admin
./. - c.1158-1532G>T r.(=) p.(=) g.25277198C>A - PYGB_000134 rs770926149 0.001946 1 514 2506 - - Admin
./. - c.1158-1453G>A r.(=) p.(=) g.25277119C>T - PYGB_000133 rs141315124 0.001938 1 516 7115 - - Admin
./. - c.1158-1427G>A r.(=) p.(=) g.25277093C>T - PYGB_000132 rs199554595 0.001938 1 516 8399 - - Admin
./. - c.1158-1307G>A r.(=) p.(=) g.25276973C>T - PYGB_000131 rs185096864 0.001938 1 516 8342 - - Admin
./. - c.1158-858C>T r.(=) p.(=) g.25276524G>A - PYGB_000130 rs145117315 0.007752 4 516 4146 - - Admin
./. - c.1158-838_1158-837insGTTT r.(=) p.(=) g.25276503_25276504insAAAC - PYGB_000129 rs1253578453 - - - - - - Admin
./. - c.1158-677C>T r.(=) p.(=) g.25276343G>A - PYGB_000128 rs2258728 0.438 226 516 12221 - - Admin
./. - c.1158-631C>T r.(=) p.(=) g.25276297G>A - PYGB_000127 rs1130694 0.43 222 516 11085 - - Admin
./. - c.1158-457G>A r.(=) p.(=) g.25276123C>T - PYGB_000126 rs561568357 0.004016 2 498 1809 - - Admin
./. - c.1158-177G>A r.(=) p.(=) g.25275843C>T - PYGB_000125 rs2258719 0.397 205 516 3975 - - Admin
./. - c.1158-129G>C r.(=) p.(=) g.25275795C>G - PYGB_000124 rs75097410 0.014 7 516 6074 - - Admin
./. - c.1158-36G>A r.(=) p.(=) g.25275702C>T - PYGB_000123 rs200446581 0.001938 1 516 8873 - - Admin
./. - c.1203A>G r.(=) p.(=) g.25275621T>C - PYGB_000122 rs73598373 0.07 36 516 8283 - - Admin
./. - c.1207C>T r.(=) p.(=) g.25275617G>A - PYGB_000121 rs2500429 0.016 8 516 8038 - - Admin
./. - c.*50_*55del r.(=) p.(=) g.25275554_25275559del - PYGB_000120 rs16436 0.023 11 478 1521 - - Admin
./. - c.*98del r.(=) p.(=) g.25275511del - PYGB_000119 rs57215790 0.023 11 478 1521 - - Admin
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