Unique variants in gene ABCC8

Information The variants shown are described using the NM_000352.3 transcript reference sequence.

348 entries on 4 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-49G>C r.(=) p.(=) g.17498372C>G Copied from the Exome Variant Server ABCC8_000347 142/9526 5/6302 137/3224
1 c.-26C>A r.(=) p.(=) g.17498349G>T Copied from the Exome Variant Server ABCC8_000346 1/11856 0/7800 1/4056
1 c.-19A>G r.(=) p.(=) g.17498342T>C Copied from the Exome Variant Server ABCC8_000345 166/12340 3/8148 163/4192
1 c.-8G>T r.(=) p.(=) g.17498331C>A Copied from the Exome Variant Server ABCC8_000344 33/12724 25/8414 8/4310
1 c.-1C>T r.(=) p.(=) g.17498324G>A Copied from the Exome Variant Server ABCC8_000343 1/12884 0/8530 1/4354
1 c.90G>A r.(=) p.(=) g.17498234C>T Copied from the Exome Variant Server ABCC8_000342 1/12984 1/8584 0/4400
1 c.105G>A r.(=) p.(=) g.17498219C>T Copied from the Exome Variant Server ABCC8_000341 4/12986 3/8586 1/4400
1 c.148+46G>A r.(=) p.(=) g.17498130C>T Copied from the Exome Variant Server ABCC8_000340 1/12978 0/8584 1/4394
1 c.207T>C r.(=) p.(=) g.17496516A>G Copied from the Exome Variant Server ABCC8_000339 6192/12986 4381/8586 1811/4400
1 c.290+24G>A r.(=) p.(=) g.17496409C>T Copied from the Exome Variant Server ABCC8_000338 32/12986 30/8586 2/4400
1 c.290+45G>C r.(=) p.(=) g.17496388C>G Copied from the Exome Variant Server ABCC8_000337 1/12986 0/8586 1/4400
1 c.291-42T>G r.(=) p.(=) g.17491811A>C Copied from the Exome Variant Server ABCC8_000336 1/12986 1/8586 0/4400
1 c.291-8C>T r.(=) p.(=) g.17491777G>A Copied from the Exome Variant Server ABCC8_000335 1/12986 0/8586 1/4400
1 c.330C>T r.(=) p.(=) g.17491730G>A Copied from the Exome Variant Server ABCC8_000334 894/12986 333/8586 561/4400
1 c.343A>G r.(?) p.(Met115Val) g.17491717T>C Copied from the Exome Variant Server ABCC8_000333 1/12986 0/8586 1/4400
1 c.352G>A r.(?) p.(Val118Ile) g.17491708C>T Copied from the Exome Variant Server ABCC8_000332 2/12986 2/8586 0/4400
1 c.354C>T r.(=) p.(=) g.17491706G>A Copied from the Exome Variant Server ABCC8_000331 35/12986 33/8586 2/4400
1 c.375C>G r.(?) p.(His125Gln) g.17491685G>C Copied from the Exome Variant Server ABCC8_000330 1/12986 1/8586 0/4400
1 c.393C>T r.(=) p.(=) g.17491667G>A Copied from the Exome Variant Server ABCC8_000328 1/12986 1/8586 0/4400
1 c.403C>G r.(?) p.(Leu135Val) g.17491657G>C Copied from the Exome Variant Server ABCC8_000326 1/12986 1/8586 0/4400
1 c.412+27A>T r.(=) p.(=) g.17491621T>A Copied from the Exome Variant Server ABCC8_000324 1/12986 0/8586 1/4400
1 c.412+33T>G r.(=) p.(=) g.17491615A>C Copied from the Exome Variant Server ABCC8_000322 1/12986 0/8586 1/4400
1 c.412+40A>G r.(=) p.(=) g.17491608T>C Copied from the Exome Variant Server ABCC8_000320 4/12986 0/8586 4/4400
1 c.413-32C>T r.(=) p.(=) g.17485183G>A Copied from the Exome Variant Server ABCC8_000318 2/12950 0/8556 2/4394
1 c.413-29C>T r.(=) p.(=) g.17485180G>A Copied from the Exome Variant Server ABCC8_000329 3/12956 3/8562 0/4394
1 c.413-23G>A r.(=) p.(=) g.17485174C>T Copied from the Exome Variant Server ABCC8_000327 1/12960 0/8564 1/4396
1 c.413-6C>T r.(=) p.(=) g.17485157G>A Copied from the Exome Variant Server ABCC8_000325 1/12964 1/8570 0/4394
1 c.413-5G>A r.spl? p.? g.17485156C>T Copied from the Exome Variant Server ABCC8_000323 13/12966 1/8572 12/4394
1 c.414C>T r.(=) p.(=) g.17485150G>A Copied from the Exome Variant Server ABCC8_000321 1/12972 1/8574 0/4398
1 c.423G>A r.(=) p.(=) g.17485141C>T Copied from the Exome Variant Server ABCC8_000319 125/12976 22/8576 103/4400
1 c.486C>T r.(=) p.(=) g.17485078G>A Copied from the Exome Variant Server ABCC8_000317 2/12984 0/8584 2/4400
1 c.495G>A r.(=) p.(=) g.17485069C>T Copied from the Exome Variant Server ABCC8_000316 1/12984 1/8584 0/4400
1 c.504C>T r.(=) p.(=) g.17485060G>A Copied from the Exome Variant Server ABCC8_000315 1/12984 1/8584 0/4400
1 c.541A>T r.(?) p.(Met181Leu) g.17485023T>A Copied from the Exome Variant Server ABCC8_000314 1/12986 0/8586 1/4400
1 c.552C>T r.(=) p.(=) g.17485012G>A Copied from the Exome Variant Server ABCC8_000313 2/12986 2/8586 0/4400
1 c.579+14C>T r.(=) p.(=) g.17484971G>A Copied from the Exome Variant Server ABCC8_000312 6324/12986 3337/8586 2987/4400
1 c.579+28G>T r.(=) p.(=) g.17484957C>A Copied from the Exome Variant Server ABCC8_000311 2/12980 0/8584 2/4396
1 c.579+29G>C r.(=) p.(=) g.17484956C>G Copied from the Exome Variant Server ABCC8_000310 113/12980 18/8584 95/4396
1 c.580-30C>G r.(=) p.(=) g.17483402G>C Copied from the Exome Variant Server ABCC8_000309 1/12986 1/8586 0/4400
1 c.580-29C>T r.(=) p.(=) g.17483401G>A Copied from the Exome Variant Server ABCC8_000308 2/12986 0/8586 2/4400
1 c.580-17G>A r.(=) p.(=) g.17483389C>T Copied from the Exome Variant Server ABCC8_000307 1/12986 0/8586 1/4400
1 c.580-16_580-14del r.(=) p.(=) g.17483386_17483388del Copied from the Exome Variant Server ABCC8_000306 2/12518 0/8254 2/4264
1 c.610G>A r.(?) p.(Val204Met) g.17483342C>T Copied from the Exome Variant Server ABCC8_000305 1/12986 0/8586 1/4400
1 c.627C>T r.(=) p.(=) g.17483325G>A Copied from the Exome Variant Server ABCC8_000304 2/12986 0/8586 2/4400
1 c.647G>A r.(?) p.(Arg216His) g.17483305C>T Copied from the Exome Variant Server ABCC8_000303 2/12986 2/8586 0/4400
1 c.689A>G r.(?) p.(Tyr230Cys) g.17483263T>C Copied from the Exome Variant Server ABCC8_000302 1/12986 1/8586 0/4400
1 c.723C>T r.(=) p.(=) g.17483229G>A Copied from the Exome Variant Server ABCC8_000301 2/12986 0/8586 2/4400
1 c.742C>T r.(?) p.(Arg248*) g.17483210G>A Copied from the Exome Variant Server ABCC8_000300 1/12986 1/8586 0/4400
1 c.743G>A r.(?) p.(Arg248Gln) g.17483209C>T Copied from the Exome Variant Server ABCC8_000299 1/12986 1/8586 0/4400
1 c.806C>G r.(?) p.(Ala269Gly) g.17483146G>C Copied from the Exome Variant Server ABCC8_000298 1/12986 1/8586 0/4400
1 c.822+3C>T r.spl? p.? g.17483127G>A Copied from the Exome Variant Server ABCC8_000297 1/12986 0/8586 1/4400
1 c.822+14C>A r.(=) p.(=) g.17483116G>T Copied from the Exome Variant Server ABCC8_000296 1/12986 1/8586 0/4400
1 c.822+20C>T r.(=) p.(=) g.17483110G>A Copied from the Exome Variant Server ABCC8_000295 21/12986 1/8586 20/4400
1 c.822+47A>G r.(=) p.(=) g.17483083T>C Copied from the Exome Variant Server ABCC8_000294 1/12986 1/8586 0/4400
1 c.823-49G>A r.(=) p.(=) g.17482272C>T Copied from the Exome Variant Server ABCC8_000293 171/12986 39/8586 132/4400
1 c.823-21G>A r.(=) p.(=) g.17482244C>T Copied from the Exome Variant Server ABCC8_000292 2/12986 2/8586 0/4400
1 c.823-17A>G r.(=) p.(=) g.17482240T>C Copied from the Exome Variant Server ABCC8_000291 1/12986 1/8586 0/4400
1 c.823-8C>T r.(=) p.(=) g.17482231G>A Copied from the Exome Variant Server ABCC8_000290 1/12986 0/8586 1/4400
1 c.823-5G>A r.spl? p.? g.17482228C>T Copied from the Exome Variant Server ABCC8_000289 2/12986 1/8586 1/4400
1 c.854G>A r.(?) p.(Arg285Gln) g.17482192C>T Copied from the Exome Variant Server ABCC8_000288 3/12986 2/8586 1/4400
1 c.886G>A r.(?) p.(Gly296Arg) g.17482160C>T Copied from the Exome Variant Server ABCC8_000287 1/12986 1/8586 0/4400
1 c.890G>T r.(?) p.(Arg297Met) g.17482156C>A Copied from the Exome Variant Server ABCC8_000286 1/12986 1/8586 0/4400
1 c.892C>T r.(?) p.(Arg298Cys) g.17482154G>A Copied from the Exome Variant Server ABCC8_000285 1/12986 0/8586 1/4400
1 c.894C>A r.(=) p.(=) g.17482152G>T Copied from the Exome Variant Server ABCC8_000284 1/12986 0/8586 1/4400
1 c.926C>G r.(?) p.(Ala309Gly) g.17482120G>C Copied from the Exome Variant Server ABCC8_000283 2/12986 1/8586 1/4400
1 c.945C>T r.(=) p.(=) g.17482101G>A Copied from the Exome Variant Server ABCC8_000282 19/12986 0/8586 19/4400
1 c.1012-20T>C r.(=) p.(=) g.17474850A>G Copied from the Exome Variant Server ABCC8_000281 1/12986 1/8586 0/4400
1 c.1063G>A r.(?) p.(Ala355Thr) g.17474779C>T Copied from the Exome Variant Server ABCC8_000280 10/12986 10/8586 0/4400
1 c.1064C>T r.(?) p.(Ala355Val) g.17474778G>A Copied from the Exome Variant Server ABCC8_000278 1/12986 1/8586 0/4400
1 c.1158C>T r.(=) p.(=) g.17474684G>A Copied from the Exome Variant Server ABCC8_000276 194/12986 2/8586 192/4400
1 c.1176+8G>C r.(=) p.(=) g.17474658C>G Copied from the Exome Variant Server ABCC8_000274 1/12986 1/8586 0/4400
1 c.1176+40A>G r.(=) p.(=) g.17474626T>C Copied from the Exome Variant Server ABCC8_000272 2/12986 0/8586 2/4400
1 c.1177-46T>C r.(=) p.(=) g.17470264A>G Copied from the Exome Variant Server ABCC8_000270 2/12986 2/8586 0/4400
1 c.1178C>G r.(?) p.(Thr393Ser) g.17470217G>C Copied from the Exome Variant Server ABCC8_000268 1/12986 0/8586 1/4400
1 c.1212C>T r.(=) p.(=) g.17470183G>A Copied from the Exome Variant Server ABCC8_000279 2/12986 2/8586 0/4400
1 c.1252T>C r.(?) p.(Cys418Arg) g.17470143A>G Copied from the Exome Variant Server ABCC8_000277 13/12986 10/8586 3/4400
1 c.1269C>T r.(=) p.(=) g.17470126G>A Copied from the Exome Variant Server ABCC8_000275 1/12986 1/8586 0/4400
1 c.1332+4del r.spl? p.? g.17470059del Copied from the Exome Variant Server ABCC8_000273 7/12518 7/8254 0/4264
1 c.1332+27G>C r.(=) p.(=) g.17470036C>G Copied from the Exome Variant Server ABCC8_000271 6/12986 0/8586 6/4400
1 c.1332+28G>A r.(=) p.(=) g.17470035C>T Copied from the Exome Variant Server ABCC8_000269 5/12986 1/8586 4/4400
1 c.1332+51G>T r.(=) p.(=) g.17470012C>A Copied from the Exome Variant Server ABCC8_000267 1/12986 1/8586 0/4400
1 c.1384A>G r.(?) p.(Ile462Val) g.17464808T>C Copied from the Exome Variant Server ABCC8_000266 16/12986 15/8586 1/4400
1 c.1389A>G r.(=) p.(=) g.17464803T>C Copied from the Exome Variant Server ABCC8_000265 1/12986 0/8586 1/4400
1 c.1396G>A r.(?) p.(Val466Ile) g.17464796C>T Copied from the Exome Variant Server ABCC8_000264 2/12986 0/8586 2/4400
1 c.1457G>A r.(?) p.(Arg486Gln) g.17464735C>T Copied from the Exome Variant Server ABCC8_000263 1/12986 1/8586 0/4400
1 c.1465C>T r.(=) p.(=) g.17464727G>A Copied from the Exome Variant Server ABCC8_000262 1/12986 0/8586 1/4400
1 c.1467+31C>T r.(=) p.(=) g.17464694G>A Copied from the Exome Variant Server ABCC8_000261 1/12986 0/8586 1/4400
1 c.1467+47C>T r.(=) p.(=) g.17464678G>A Copied from the Exome Variant Server ABCC8_000260 1/12986 1/8586 0/4400
1 c.1468-42C>T r.(=) p.(=) g.17464471G>A Copied from the Exome Variant Server ABCC8_000259 2/12986 0/8586 2/4400
1 c.1468-26C>T r.(=) p.(=) g.17464455G>A Copied from the Exome Variant Server ABCC8_000258 1/12986 0/8586 1/4400
1 c.1468-17C>T r.(=) p.(=) g.17464446G>A Copied from the Exome Variant Server ABCC8_000257 1/12986 1/8586 0/4400
1 c.1468-14G>A r.(=) p.(=) g.17464443C>T Copied from the Exome Variant Server ABCC8_000256 1/12986 0/8586 1/4400
1 c.1486C>T r.(=) p.(=) g.17464411G>A Copied from the Exome Variant Server ABCC8_000255 2/12986 2/8586 0/4400
1 c.1501G>A r.(?) p.(Glu501Lys) g.17464396C>T Copied from the Exome Variant Server ABCC8_000254 1/12986 0/8586 1/4400
1 c.1511G>A r.(?) p.(Arg504His) g.17464386C>T Copied from the Exome Variant Server ABCC8_000253 2/12986 1/8586 1/4400
1 c.1512C>T r.(=) p.(=) g.17464385G>A Copied from the Exome Variant Server ABCC8_000252 1/12986 1/8586 0/4400
1 c.1562G>A r.(?) p.(Arg521Gln) g.17464335C>T Copied from the Exome Variant Server ABCC8_000251 2/12986 2/8586 0/4400
1 c.1564G>A r.(?) p.(Val522Met) g.17464333C>T Copied from the Exome Variant Server ABCC8_000250 1/12986 1/8586 0/4400
1 c.1572G>A r.(=) p.(=) g.17464325C>T Copied from the Exome Variant Server ABCC8_000249 143/12986 2/8586 141/4400
1 c.1577G>A r.(?) p.(Arg526His) g.17464320C>T Copied from the Exome Variant Server ABCC8_000248 1/12986 1/8586 0/4400
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