All transcript variants in gene YME1L1

Information The variants shown are described using the NM_139312.2 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-25T>A r.(=) p.(=) g.27443164A>T Copied from the Exome Variant Server YME1L1_000145 1/12900 1/8534 0/4366
?/? c.9C>T r.(=) p.(=) g.27443131G>A Copied from the Exome Variant Server YME1L1_000144 1/12976 0/8582 1/4394
?/? c.33+6C>G r.(=) p.(=) g.27443101G>C Copied from the Exome Variant Server YME1L1_000143 5/12980 5/8582 0/4398
?/? c.33+24T>A r.(=) p.(=) g.27443083A>T Copied from the Exome Variant Server YME1L1_000142 778/12968 686/8578 92/4390
?/? c.33+29del r.(=) p.(=) g.27443078del Copied from the Exome Variant Server YME1L1_000141 114/12460 88/8216 26/4244
?/? c.33+35C>T r.(=) p.(=) g.27443072G>A Copied from the Exome Variant Server YME1L1_000140 455/12958 179/8570 276/4388
?/? c.34-33_34-32insA r.(=) p.(=) g.27438001_27438002insT Copied from the Exome Variant Server YME1L1_000139 17/12514 12/8254 5/4260
?/? c.34-25G>A r.(=) p.(=) g.27437994C>T Copied from the Exome Variant Server YME1L1_000138 2857/13006 1529/8600 1328/4406
?/? c.34-8T>C r.(=) p.(=) g.27437977A>G Copied from the Exome Variant Server YME1L1_000137 1/13006 1/8600 0/4406
?/? c.39A>G r.(=) p.(=) g.27437964T>C Copied from the Exome Variant Server YME1L1_000136 840/13006 711/8600 129/4406
?/? c.58A>T r.(?) p.(Ile20Phe) g.27437945T>A Copied from the Exome Variant Server YME1L1_000135 1/13006 0/8600 1/4406
?/? c.88T>G r.(?) p.(Ser30Ala) g.27437915A>C Copied from the Exome Variant Server YME1L1_000134 1/13006 1/8600 0/4406
?/? c.90T>G r.(=) p.(=) g.27437913A>C Copied from the Exome Variant Server YME1L1_000133 2/13006 0/8600 2/4406
?/? c.91G>T r.(?) p.(Val31Phe) g.27437912C>A Copied from the Exome Variant Server YME1L1_000132 1/13006 1/8600 0/4406
?/? c.131G>A r.(?) p.(Arg44Gln) g.27437872C>T Copied from the Exome Variant Server YME1L1_000131 2/13006 2/8600 0/4406
?/? c.139G>T r.(?) p.(Val47Phe) g.27437864C>A Copied from the Exome Variant Server YME1L1_000130 1/13006 0/8600 1/4406
?/? c.192G>A r.(=) p.(=) g.27436574C>T Copied from the Exome Variant Server YME1L1_000129 12/12508 1/8246 11/4262
?/? c.200A>G r.(?) p.(Asn67Ser) g.27436566T>C Copied from the Exome Variant Server YME1L1_000128 664/12682 387/8376 277/4306
?/? c.219A>G r.(=) p.(=) g.27436547T>C Copied from the Exome Variant Server YME1L1_000127 1/12912 0/8538 1/4374
?/? c.220G>A r.(?) p.(Gly74Arg) g.27436546C>T Copied from the Exome Variant Server YME1L1_000126 2/12918 1/8542 1/4376
?/? c.286G>T r.(?) p.(Asp96Tyr) g.27436480C>A Copied from the Exome Variant Server YME1L1_000125 1/13006 1/8600 0/4406
?/? c.303_304del r.(?) p.(Trp101*) g.27436462_27436463del Copied from the Exome Variant Server YME1L1_000124 1452/12518 44/8254 1408/4264
?/? c.310C>T r.(?) p.(Arg104Cys) g.27436456G>A Copied from the Exome Variant Server YME1L1_000123 1/13006 1/8600 0/4406
?/? c.327C>T r.(=) p.(=) g.27436439G>A Copied from the Exome Variant Server YME1L1_000122 1/13006 0/8600 1/4406
?/? c.336C>G r.(?) p.(Ile112Met) g.27436430G>C Copied from the Exome Variant Server YME1L1_000121 2/13006 2/8600 0/4406
?/? c.339+9C>T r.(=) p.(=) g.27436418G>A Copied from the Exome Variant Server YME1L1_000120 1/13006 1/8600 0/4406
?/? c.340-34T>C r.(=) p.(=) g.27434553A>G Copied from the Exome Variant Server YME1L1_000119 1/12982 1/8596 0/4386
?/? c.376C>T r.(=) p.(=) g.27434483G>A Copied from the Exome Variant Server YME1L1_000118 2898/13004 1532/8598 1366/4406
?/? c.411T>C r.(=) p.(=) g.27434448A>G Copied from the Exome Variant Server YME1L1_000117 1/13004 0/8598 1/4406
?/? c.441C>T r.(=) p.(=) g.27434418G>A Copied from the Exome Variant Server YME1L1_000116 1/13006 1/8600 0/4406
?/? c.465C>G r.(=) p.(=) g.27434394G>C Copied from the Exome Variant Server YME1L1_000115 6/13006 0/8600 6/4406
?/? c.470T>C r.(?) p.(Val157Ala) g.27434389A>G Copied from the Exome Variant Server YME1L1_000114 1/13006 1/8600 0/4406
?/? c.474T>G r.(=) p.(=) g.27434385A>C Copied from the Exome Variant Server YME1L1_000113 4/13006 1/8600 3/4406
?/? c.502+10T>C r.(=) p.(=) g.27434347A>G Copied from the Exome Variant Server YME1L1_000112 1/13002 1/8596 0/4406
?/? c.502+22del r.(=) p.(=) g.27434335del Copied from the Exome Variant Server YME1L1_000110 10/12512 6/8248 4/4264
?/? c.502+25A>C r.(=) p.(=) g.27434332T>G Copied from the Exome Variant Server YME1L1_000109 37/12998 0/8594 37/4404
?/? c.502+33A>G r.(=) p.(=) g.27434324T>C Copied from the Exome Variant Server YME1L1_000107 1/12990 0/8590 1/4400
?/? c.502+33_502+42del r.(=) p.(=) g.27434315_27434324del Copied from the Exome Variant Server YME1L1_000105 10/12494 1/8240 9/4254
?/? c.502+47_502+48insG r.(=) p.(=) g.27434309_27434310insC Copied from the Exome Variant Server YME1L1_000102 9/12476 0/8238 9/4238
?/? c.502+50_502+51del r.(=) p.(=) g.27434306_27434307del Copied from the Exome Variant Server YME1L1_000100 15/12466 0/8232 15/4234
?/? c.529C>T r.(?) p.(Arg177Cys) g.27431388G>A Copied from the Exome Variant Server YME1L1_000099 1/13006 1/8600 0/4406
?/? c.540C>T r.(=) p.(=) g.27431377G>A Copied from the Exome Variant Server YME1L1_000111 2/13006 0/8600 2/4406
?/? c.583G>C r.(?) p.(Asp195His) g.27431334C>G Copied from the Exome Variant Server YME1L1_000108 1/13006 0/8600 1/4406
?/? c.601+28A>G r.(=) p.(=) g.27431288T>C Copied from the Exome Variant Server YME1L1_000106 282/13002 140/8598 142/4404
?/? c.601+36del r.(=) p.(=) g.27431280del Copied from the Exome Variant Server YME1L1_000104 138/12504 54/8246 84/4258
?/? c.602-20_602-17del r.(=) p.(=) g.27425331_27425334del Copied from the Exome Variant Server YME1L1_000103 1/12518 0/8254 1/4264
?/? c.602-12T>C r.(=) p.(=) g.27425326A>G Copied from the Exome Variant Server YME1L1_000101 1/13006 1/8600 0/4406
?/? c.608T>C r.(?) p.(Ile203Thr) g.27425308A>G Copied from the Exome Variant Server YME1L1_000098 52/13006 0/8600 52/4406
?/? c.617G>A r.(?) p.(Arg206Gln) g.27425299C>T Copied from the Exome Variant Server YME1L1_000097 1/13006 1/8600 0/4406
?/? c.620_621insG r.(?) p.(Lys209*) g.27425295_27425296insC Copied from the Exome Variant Server YME1L1_000096 64/12518 39/8254 25/4264
?/? c.711+12T>G r.(=) p.(=) g.27425193A>C Copied from the Exome Variant Server YME1L1_000095 3/13006 0/8600 3/4406
?/? c.711+17_711+18insA r.(=) p.(=) g.27425187_27425188insT Copied from the Exome Variant Server YME1L1_000094 1/12518 1/8254 0/4264
?/? c.711+19G>A r.(=) p.(=) g.27425186C>T Copied from the Exome Variant Server YME1L1_000093 1/13006 1/8600 0/4406
?/? c.711+28_711+29del r.(=) p.(=) g.27425176_27425177del Copied from the Exome Variant Server YME1L1_000092 1/12518 0/8254 1/4264
?/? c.711+30C>G r.(=) p.(=) g.27425175G>C Copied from the Exome Variant Server YME1L1_000091 1/13006 0/8600 1/4406
?/? c.711+43G>T r.(=) p.(=) g.27425162C>A Copied from the Exome Variant Server YME1L1_000090 1/13006 0/8600 1/4406
?/? c.712-16T>C r.(=) p.(=) g.27423926A>G Copied from the Exome Variant Server YME1L1_000089 20/13006 17/8600 3/4406
?/? c.723G>C r.(?) p.(Leu241Phe) g.27423899C>G Copied from the Exome Variant Server YME1L1_000088 1/13006 1/8600 0/4406
?/? c.725G>A r.(?) p.(Arg242Gln) g.27423897C>T Copied from the Exome Variant Server YME1L1_000087 1/13006 0/8600 1/4406
?/? c.757A>G r.(?) p.(Lys253Glu) g.27423865T>C Copied from the Exome Variant Server YME1L1_000086 1/13006 1/8600 0/4406
?/? c.771C>T r.(=) p.(=) g.27423851G>A Copied from the Exome Variant Server YME1L1_000085 1/13006 0/8600 1/4406
?/? c.784G>A r.(?) p.(Glu262Lys) g.27423838C>T Copied from the Exome Variant Server YME1L1_000084 9/13006 0/8600 9/4406
?/? c.818C>T r.(?) p.(Ala273Val) g.27423804G>A Copied from the Exome Variant Server YME1L1_000083 1/13006 0/8600 1/4406
?/? c.819G>A r.(=) p.(=) g.27423803C>T Copied from the Exome Variant Server YME1L1_000082 4/13006 3/8600 1/4406
?/? c.841G>A r.(?) p.(Ala281Thr) g.27423781C>T Copied from the Exome Variant Server YME1L1_000081 1/13006 0/8600 1/4406
?/? c.862+16A>G r.(=) p.(=) g.27423744T>C Copied from the Exome Variant Server YME1L1_000080 2849/13004 1514/8600 1335/4404
?/? c.862+50G>A r.(=) p.(=) g.27423710C>T Copied from the Exome Variant Server YME1L1_000079 1/13004 0/8600 1/4404
?/? c.863-50T>C r.(=) p.(=) g.27423101A>G Copied from the Exome Variant Server YME1L1_000078 1/12994 0/8592 1/4402
?/? c.863-49C>T r.(=) p.(=) g.27423100G>A Copied from the Exome Variant Server YME1L1_000077 10/12994 0/8592 10/4402
?/? c.863-6_863-5del r.spl? p.? g.27423056_27423057del Copied from the Exome Variant Server YME1L1_000076 3/12512 3/8248 0/4264
?/? c.876A>C r.(=) p.(=) g.27423038T>G Copied from the Exome Variant Server YME1L1_000075 1/13006 1/8600 0/4406
?/? c.881G>A r.(?) p.(Arg294His) g.27423033C>T Copied from the Exome Variant Server YME1L1_000074 1/13006 1/8600 0/4406
?/? c.888T>G r.(?) p.(Ile296Met) g.27423026A>C Copied from the Exome Variant Server YME1L1_000073 1/13006 1/8600 0/4406
?/? c.891C>G r.(=) p.(=) g.27423023G>C Copied from the Exome Variant Server YME1L1_000072 2/13006 0/8600 2/4406
?/? c.909C>T r.(=) p.(=) g.27423005G>A Copied from the Exome Variant Server YME1L1_000071 4/13006 0/8600 4/4406
?/? c.925C>T r.(=) p.(=) g.27422989G>A Copied from the Exome Variant Server YME1L1_000070 1/13004 1/8598 0/4406
?/? c.946+24A>G r.(=) p.(=) g.27422944T>C Copied from the Exome Variant Server YME1L1_000069 1/12994 1/8598 0/4396
?/? c.946+33C>G r.(=) p.(=) g.27422935G>C Copied from the Exome Variant Server YME1L1_000068 22/12974 0/8588 22/4386
?/? c.963A>G r.(=) p.(=) g.27420854T>C Copied from the Exome Variant Server YME1L1_000067 1/13006 0/8600 1/4406
?/? c.1017A>G r.(=) p.(=) g.27420800T>C Copied from the Exome Variant Server YME1L1_000066 1/13006 1/8600 0/4406
?/? c.1029+23C>A r.(=) p.(=) g.27420765G>T Copied from the Exome Variant Server YME1L1_000065 1/13006 0/8600 1/4406
?/? c.1030-44C>T r.(=) p.(=) g.27415759G>A Copied from the Exome Variant Server YME1L1_000064 1/12966 0/8568 1/4398
?/? c.1030-17A>T r.(=) p.(=) g.27415732T>A Copied from the Exome Variant Server YME1L1_000063 19/12984 19/8586 0/4398
?/? c.1096A>G r.(?) p.(Ile366Val) g.27415649T>C Copied from the Exome Variant Server YME1L1_000062 1/12976 1/8580 0/4396
?/? c.1120+11T>G r.(=) p.(=) g.27415614A>C Copied from the Exome Variant Server YME1L1_000061 2/12954 0/8568 2/4386
?/? c.1120+48_1120+49del r.(=) p.(=) g.27415576_27415577del Copied from the Exome Variant Server YME1L1_000060 306/12292 6/8142 300/4150
?/? c.1121-52G>A r.(=) p.(=) g.27412680C>T Copied from the Exome Variant Server YME1L1_000057 43/7116 0/4562 43/2554
?/? c.1121-41T>A r.(=) p.(=) g.27412669A>T Copied from the Exome Variant Server YME1L1_000055 2555/12926 1386/8576 1169/4350
?/? c.1121-27A>G r.(=) p.(=) g.27412655T>C Copied from the Exome Variant Server YME1L1_000054 1/12988 1/8590 0/4398
?/? c.1121-25C>T r.(=) p.(=) g.27412653G>A Copied from the Exome Variant Server YME1L1_000052 1/12990 1/8592 0/4398
?/? c.1121-19C>T r.(=) p.(=) g.27412647G>A Copied from the Exome Variant Server YME1L1_000050 2/12998 1/8596 1/4402
?/? c.1121-18G>A r.(=) p.(=) g.27412646C>T Copied from the Exome Variant Server YME1L1_000059 1/12998 1/8596 0/4402
?/? c.1121-3T>C r.spl? p.? g.27412631A>G Copied from the Exome Variant Server YME1L1_000058 55/13002 0/8596 55/4406
?/? c.1133T>C r.(?) p.(Val378Ala) g.27412616A>G Copied from the Exome Variant Server YME1L1_000056 1/13006 1/8600 0/4406
?/? c.1210T>G r.(?) p.(Ser404Ala) g.27412539A>C Copied from the Exome Variant Server YME1L1_000053 1/13006 1/8600 0/4406
?/? c.1218C>T r.(=) p.(=) g.27412531G>A Copied from the Exome Variant Server YME1L1_000051 2/13006 1/8600 1/4406
?/? c.1257_1258insT r.(?) p.(Ile420Tyrfs*6) g.27412491_27412492insA Copied from the Exome Variant Server YME1L1_000049 1/12518 0/8254 1/4264
?/? c.1274-42T>C r.(=) p.(=) g.27411944A>G Copied from the Exome Variant Server YME1L1_000048 8/13004 0/8600 8/4404
?/? c.1326T>C r.(=) p.(=) g.27411850A>G Copied from the Exome Variant Server YME1L1_000047 1/13006 1/8600 0/4406
?/? c.1407-24G>T r.(=) p.(=) g.27410401C>A Copied from the Exome Variant Server YME1L1_000046 94/13006 0/8600 94/4406
Legend   « First ‹ Prev     1 2     Next › Last »