All transcript variants in gene WDR12

Information The variants shown are described using the NM_018256.3 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-82G>T r.(=) p.(=) g.203776281C>A Copied from the Exome Variant Server WDR12_000083 3/4566 0/3182 3/1384
?/? c.-68C>T r.(=) p.(=) g.203776267G>A Copied from the Exome Variant Server WDR12_000081 1/4566 0/3182 1/1384
?/? c.-54T>A r.(=) p.(=) g.203776253A>T Copied from the Exome Variant Server WDR12_000079 5/4566 0/3182 5/1384
?/? c.28A>G r.(?) p.(Thr10Ala) g.203776172T>C Copied from the Exome Variant Server WDR12_000077 1/13006 0/8600 1/4406
?/? c.31G>T r.(?) p.(Asp11Tyr) g.203776169C>A Copied from the Exome Variant Server WDR12_000075 1/13006 1/8600 0/4406
?/? c.41+17G>T r.(=) p.(=) g.203776142C>A Copied from the Exome Variant Server WDR12_000073 1/13006 1/8600 0/4406
?/? c.41+36G>C r.(=) p.(=) g.203776123C>G Copied from the Exome Variant Server WDR12_000071 2/13006 0/8600 2/4406
?/? c.41+46C>T r.(=) p.(=) g.203776113G>A Copied from the Exome Variant Server WDR12_000069 1/13006 0/8600 1/4406
?/? c.42-38T>C r.(=) p.(=) g.203772720A>G Copied from the Exome Variant Server WDR12_000067 20/13006 0/8600 20/4406
?/? c.42-32C>G r.(=) p.(=) g.203772714G>C Copied from the Exome Variant Server WDR12_000087 1/13006 1/8600 0/4406
?/? c.42-28A>T r.(=) p.(=) g.203772710T>A Copied from the Exome Variant Server WDR12_000086 1/13006 0/8600 1/4406
?/? c.48C>T r.(=) p.(=) g.203772676G>A Copied from the Exome Variant Server WDR12_000085 6/13006 1/8600 5/4406
?/? c.94G>A r.(?) p.(Asp32Asn) g.203772630C>T Copied from the Exome Variant Server WDR12_000084 12/13006 11/8600 1/4406
?/? c.136+12T>C r.(=) p.(=) g.203772576A>G Copied from the Exome Variant Server WDR12_000082 1/13006 1/8600 0/4406
?/? c.136+26C>G r.(=) p.(=) g.203772562G>C Copied from the Exome Variant Server WDR12_000080 1/13006 1/8600 0/4406
?/? c.136+40T>G r.(=) p.(=) g.203772548A>C Copied from the Exome Variant Server WDR12_000078 2/13006 2/8600 0/4406
?/? c.137-11A>G r.(=) p.(=) g.203765853T>C Copied from the Exome Variant Server WDR12_000076 1/13006 1/8600 0/4406
?/? c.160G>A r.(?) p.(Asp54Asn) g.203765819C>T Copied from the Exome Variant Server WDR12_000074 1/13006 1/8600 0/4406
?/? c.170T>C r.(?) p.(Ile57Thr) g.203765809A>G Copied from the Exome Variant Server WDR12_000072 1/13006 1/8600 0/4406
?/? c.179A>G r.(?) p.(Gln60Arg) g.203765800T>C Copied from the Exome Variant Server WDR12_000070 30/13006 0/8600 30/4406
?/? c.181T>C r.(?) p.(Phe61Leu) g.203765798A>G Copied from the Exome Variant Server WDR12_000068 5/13006 4/8600 1/4406
?/? c.223A>G r.(?) p.(Ile75Val) g.203765756T>C Copied from the Exome Variant Server WDR12_000066 1266/13006 1117/8600 149/4406
?/? c.224T>C r.(?) p.(Ile75Thr) g.203765755A>G Copied from the Exome Variant Server WDR12_000065 1/13006 1/8600 0/4406
?/? c.231+6T>C r.(=) p.(=) g.203765742A>G Copied from the Exome Variant Server WDR12_000064 1/13006 1/8600 0/4406
?/? c.231+18T>C r.(=) p.(=) g.203765730A>G Copied from the Exome Variant Server WDR12_000063 1/13006 0/8600 1/4406
?/? c.231+53G>A r.(=) p.(=) g.203765695C>T Copied from the Exome Variant Server WDR12_000062 9/4566 1/3182 8/1384
?/? c.232-11C>T r.(=) p.(=) g.203764371G>A Copied from the Exome Variant Server WDR12_000061 1/13006 1/8600 0/4406
?/? c.255C>T r.(=) p.(=) g.203764337G>A Copied from the Exome Variant Server WDR12_000060 5/13006 0/8600 5/4406
?/? c.261G>T r.(?) p.(Glu87Asp) g.203764331C>A Copied from the Exome Variant Server WDR12_000059 1/13006 1/8600 0/4406
?/? c.282A>G r.(=) p.(=) g.203764310T>C Copied from the Exome Variant Server WDR12_000058 1/13006 0/8600 1/4406
?/? c.338+33_338+34insT r.(=) p.(=) g.203764220_203764221insA Copied from the Exome Variant Server WDR12_000057 10/12520 1/8254 9/4266
?/? c.339-3T>C r.spl? p.? g.203762141A>G Copied from the Exome Variant Server WDR12_000056 146/13006 0/8600 146/4406
?/? c.388G>A r.(?) p.(Gly130Arg) g.203762089C>T Copied from the Exome Variant Server WDR12_000055 1/13006 1/8600 0/4406
?/? c.391A>G r.(?) p.(Lys131Glu) g.203762086T>C Copied from the Exome Variant Server WDR12_000054 1/13006 0/8600 1/4406
?/? c.407T>C r.(?) p.(Ile136Thr) g.203762070A>G Copied from the Exome Variant Server WDR12_000053 2/13006 0/8600 2/4406
?/? c.419C>T r.(?) p.(Thr140Met) g.203762058G>A Copied from the Exome Variant Server WDR12_000052 2/13006 0/8600 2/4406
?/? c.422A>G r.(?) p.(Asp141Gly) g.203762055T>C Copied from the Exome Variant Server WDR12_000051 1/13006 1/8600 0/4406
?/? c.455-39A>G r.(=) p.(=) g.203760981T>C Copied from the Exome Variant Server WDR12_000050 1/13006 0/8600 1/4406
?/? c.456T>C r.(=) p.(=) g.203760941A>G Copied from the Exome Variant Server WDR12_000049 1/13006 0/8600 1/4406
?/? c.457A>G r.(?) p.(Ser153Gly) g.203760940T>C Copied from the Exome Variant Server WDR12_000048 1/13006 1/8600 0/4406
?/? c.461T>C r.(?) p.(Leu154Ser) g.203760936A>G Copied from the Exome Variant Server WDR12_000047 1/13006 1/8600 0/4406
?/? c.487A>G r.(?) p.(Met163Val) g.203760910T>C Copied from the Exome Variant Server WDR12_000046 1/13006 0/8600 1/4406
?/? c.586G>A r.(?) p.(Ala196Thr) g.203760811C>T Copied from the Exome Variant Server WDR12_000045 1/13006 1/8600 0/4406
?/? c.609+12G>A r.(=) p.(=) g.203760776C>T Copied from the Exome Variant Server WDR12_000044 1/13006 1/8600 0/4406
?/? c.610-58A>G r.(=) p.(=) g.203759407T>C Copied from the Exome Variant Server WDR12_000043 1/4566 1/3182 0/1384
?/? c.610-11C>T r.(=) p.(=) g.203759360G>A Copied from the Exome Variant Server WDR12_000042 1/13006 1/8600 0/4406
?/? c.610T>G r.(?) p.(Phe204Val) g.203759349A>C Copied from the Exome Variant Server WDR12_000041 1/13006 1/8600 0/4406
?/? c.655+7_655+11del r.(=) p.(=) g.203759293_203759297del Copied from the Exome Variant Server WDR12_000040 139/12504 101/8244 38/4260
?/? c.655+36T>C r.(=) p.(=) g.203759268A>G Copied from the Exome Variant Server WDR12_000038 38/12990 35/8592 3/4398
?/? c.655+40_655+42del r.(=) p.(=) g.203759262_203759264del Copied from the Exome Variant Server WDR12_000036 36/12466 16/8232 20/4234
?/? c.656-47G>C r.(=) p.(=) g.203757472C>G Copied from the Exome Variant Server WDR12_000034 1/13006 0/8600 1/4406
?/? c.656-3C>T r.spl? p.? g.203757428G>A Copied from the Exome Variant Server WDR12_000032 11/13006 0/8600 11/4406
?/? c.694A>G r.(?) p.(Asn232Asp) g.203757387T>C Copied from the Exome Variant Server WDR12_000030 1/13006 1/8600 0/4406
?/? c.695A>G r.(?) p.(Asn232Ser) g.203757386T>C Copied from the Exome Variant Server WDR12_000028 1/13006 1/8600 0/4406
?/? c.697C>T r.(?) p.(Arg233*) g.203757384G>A Copied from the Exome Variant Server WDR12_000026 1/13006 1/8600 0/4406
?/? c.742-27_742-26insT r.(=) p.(=) g.203749284_203749285insA Copied from the Exome Variant Server WDR12_000024 189/12516 168/8250 21/4266
?/? c.810A>G r.(=) p.(=) g.203749190T>C Copied from the Exome Variant Server WDR12_000022 1/13006 1/8600 0/4406
?/? c.833A>G r.(?) p.(His278Arg) g.203749167T>C Copied from the Exome Variant Server WDR12_000020 1/13006 1/8600 0/4406
?/? c.882+37T>G r.(=) p.(=) g.203749081A>C Copied from the Exome Variant Server WDR12_000018 1/13006 0/8600 1/4406
?/? c.883-25_883-20del r.(=) p.(=) g.203749046_203749051del Copied from the Exome Variant Server WDR12_000039 25/12518 10/8254 15/4264
?/? c.883-15C>G r.(=) p.(=) g.203749041G>C Copied from the Exome Variant Server WDR12_000037 1/13004 1/8600 0/4404
?/? c.900T>G r.(?) p.(Phe300Leu) g.203749009A>C Copied from the Exome Variant Server WDR12_000035 6/13006 6/8600 0/4406
?/? c.925T>C r.(?) p.(Cys309Arg) g.203748984A>G Copied from the Exome Variant Server WDR12_000033 1/13006 1/8600 0/4406
?/? c.932G>A r.(?) p.(Arg311His) g.203748977C>T Copied from the Exome Variant Server WDR12_000031 1/13006 1/8600 0/4406
?/? c.953A>G r.(?) p.(Asp318Gly) g.203748956T>C Copied from the Exome Variant Server WDR12_000029 1/13006 1/8600 0/4406
?/? c.988+23G>T r.(=) p.(=) g.203748898C>A Copied from the Exome Variant Server WDR12_000027 1/13006 1/8600 0/4406
?/? c.988+32G>A r.(=) p.(=) g.203748889C>T Copied from the Exome Variant Server WDR12_000025 1/13006 1/8600 0/4406
?/? c.988+34G>A r.(=) p.(=) g.203748887C>T Copied from the Exome Variant Server WDR12_000023 1/13006 0/8600 1/4406
?/? c.1017G>A r.(=) p.(=) g.203748436C>T Copied from the Exome Variant Server WDR12_000021 6/13006 6/8600 0/4406
?/? c.1076T>C r.(?) p.(Ile359Thr) g.203748377A>G Copied from the Exome Variant Server WDR12_000019 1/13006 1/8600 0/4406
?/? c.1116A>G r.(=) p.(=) g.203748337T>C Copied from the Exome Variant Server WDR12_000017 1/13006 1/8600 0/4406
?/? c.1117A>G r.(?) p.(Arg373Gly) g.203748336T>C Copied from the Exome Variant Server WDR12_000016 1/13006 1/8600 0/4406
?/? c.1121+21A>G r.(=) p.(=) g.203748311T>C Copied from the Exome Variant Server WDR12_000015 1/13006 0/8600 1/4406
?/? c.1121+49T>C r.(=) p.(=) g.203748283A>G Copied from the Exome Variant Server WDR12_000014 1/13004 1/8598 0/4406
?/? c.1122-71_1122-66del r.(=) p.(=) g.203747572_203747577del Copied from the Exome Variant Server WDR12_000013 2/12474 0/8244 2/4230
?/? c.1122-16T>C r.(=) p.(=) g.203747522A>G Copied from the Exome Variant Server WDR12_000012 1267/13002 1118/8596 149/4406
?/? c.1129G>T r.(?) p.(Ala377Ser) g.203747499C>A Copied from the Exome Variant Server WDR12_000011 3/13006 0/8600 3/4406
?/? c.1194+16T>C r.(=) p.(=) g.203747418A>G Copied from the Exome Variant Server WDR12_000010 1/13006 0/8600 1/4406
?/? c.1194+15_1194+18del r.(=) p.(=) g.203747416_203747419del Copied from the Exome Variant Server WDR12_000009 43/12520 23/8254 20/4266
?/? c.1194+40T>G r.(=) p.(=) g.203747394A>C Copied from the Exome Variant Server WDR12_000008 1/13006 1/8600 0/4406
?/? c.1195-11C>G r.(=) p.(=) g.203745671G>C Copied from the Exome Variant Server WDR12_000007 1/13004 0/8598 1/4406
?/? c.1211G>A r.(?) p.(Gly404Glu) g.203745644C>T Copied from the Exome Variant Server WDR12_000006 1/13004 0/8598 1/4406
?/? c.1218C>T r.(=) p.(=) g.203745637G>A Copied from the Exome Variant Server WDR12_000005 1/13004 0/8598 1/4406
?/? c.1236C>T r.(=) p.(=) g.203745619G>A Copied from the Exome Variant Server WDR12_000004 1/13002 1/8596 0/4406
?/? c.1253C>T r.(?) p.(Thr418Ile) g.203745602G>A Copied from the Exome Variant Server WDR12_000003 1/13002 1/8596 0/4406
?/? c.1258C>T r.(?) p.(His420Tyr) g.203745597G>A Copied from the Exome Variant Server WDR12_000002 1/13002 0/8596 1/4406
?/? c.*42G>T r.(=) p.(=) g.203745541C>A Copied from the Exome Variant Server WDR12_000001 3/13000 0/8594 3/4406
Legend