All transcript variants in gene STK11

Information The variants shown are described using the NM_000455.4 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.126G>A r.(=) p.(=) g.1207038G>A Copied from the Exome Variant Server STK11_000001 1/12538 1/8386 0/4152
?/? c.181G>A r.(?) p.(Gly61Ser) g.1207093G>A Copied from the Exome Variant Server STK11_000002 1/12576 1/8402 0/4174
?/? c.248A>G r.(?) p.(Lys83Arg) g.1207160A>G Copied from the Exome Variant Server STK11_000003 1/12356 0/8328 1/4028
?/? c.264C>A r.(=) p.(=) g.1207176C>A Copied from the Exome Variant Server STK11_000004 257/12330 2/8302 255/4028
?/? c.290+22C>T r.(=) p.(=) g.1207224C>T Copied from the Exome Variant Server STK11_000005 2/12166 0/8248 2/3918
?/? c.290+36G>T r.(=) p.(=) g.1207238G>T Copied from the Exome Variant Server STK11_000006 2812/12252 1763/8266 1049/3986
?/? c.290+45G>A r.(=) p.(=) g.1207247G>A Copied from the Exome Variant Server STK11_000007 1/12260 1/8266 0/3994
?/? c.291-38T>C r.(=) p.(=) g.1218378T>C Copied from the Exome Variant Server STK11_000008 1/12562 0/8400 1/4162
?/? c.291-32C>T r.(=) p.(=) g.1218384C>T Copied from the Exome Variant Server STK11_000009 540/12554 3/8392 537/4162
?/? c.291-25_291-24insA r.(=) p.(=) g.1218391_1218392insA Copied from the Exome Variant Server STK11_000010 1/11994 0/8018 1/3976
?/? c.291-18_291-17del r.(=) p.(=) g.1218398_1218399del Copied from the Exome Variant Server STK11_000011 1/11980 1/8010 0/3970
?/? c.291-17T>C r.(=) p.(=) g.1218399T>C Copied from the Exome Variant Server STK11_000012 1/12476 1/8368 0/4108
?/? c.306G>C r.(=) p.(=) g.1218431G>C Copied from the Exome Variant Server STK11_000013 1/12358 0/8338 1/4020
?/? c.317G>A r.(?) p.(Arg106Gln) g.1218442G>A Copied from the Exome Variant Server STK11_000014 1/12310 0/8324 1/3986
?/? c.330C>T r.(=) p.(=) g.1218455C>T Copied from the Exome Variant Server STK11_000015 1/12272 0/8302 1/3970
?/? c.357C>T r.(=) p.(=) g.1218482C>T Copied from the Exome Variant Server STK11_000016 1/12172 1/8288 0/3884
?/? c.366G>A r.(=) p.(=) g.1218491G>A Copied from the Exome Variant Server STK11_000017 2/12132 2/8274 0/3858
?/? c.369G>A r.(=) p.(=) g.1218494G>A Copied from the Exome Variant Server STK11_000018 61/12098 2/8266 59/3832
?/? c.374+11C>T r.(=) p.(=) g.1218510C>T Copied from the Exome Variant Server STK11_000019 2/12022 0/8228 2/3794
?/? c.374+24G>T r.(=) p.(=) g.1218523G>T Copied from the Exome Variant Server STK11_000020 2149/12016 825/8226 1324/3790
?/? c.374+25C>T r.(=) p.(=) g.1218524C>T Copied from the Exome Variant Server STK11_000021 5/12014 0/8224 5/3790
?/? c.375-49G>A r.(=) p.(=) g.1219274G>A Copied from the Exome Variant Server STK11_000022 5343/12612 3504/8426 1839/4186
?/? c.432G>A r.(=) p.(=) g.1219380G>A Copied from the Exome Variant Server STK11_000023 1/12960 1/8580 0/4380
?/? c.434A>G r.(?) p.(Glu145Gly) g.1219382A>G Copied from the Exome Variant Server STK11_000024 1/12958 1/8578 0/4380
?/? c.464+4C>T r.spl? p.? g.1219416C>T Copied from the Exome Variant Server STK11_000025 1/12916 1/8562 0/4354
?/? c.464+9G>A r.(=) p.(=) g.1219421G>A Copied from the Exome Variant Server STK11_000026 23/12856 0/8540 23/4316
?/? c.464+31_464+32insCGGGGGC r.(=) p.(=) g.1219443_1219444insCGGGGGC Copied from the Exome Variant Server STK11_000027 716/8426 478/5948 238/2478
?/? c.464+39C>T r.(=) p.(=) g.1219451C>T Copied from the Exome Variant Server STK11_000028 1/10400 0/7126 1/3274
?/? c.464+39_464+40insG r.(=) p.(=) g.1219451_1219452insG Copied from the Exome Variant Server STK11_000029 166/8962 63/6262 103/2700
?/? c.464+50_464+51del r.(=) p.(=) g.1219462_1219463del Copied from the Exome Variant Server STK11_000030 68/9150 54/6404 14/2746
?/? c.465-51T>C r.(=) p.(=) g.1220321T>C Copied from the Exome Variant Server STK11_000031 1786/6654 948/4370 838/2284
?/? c.465-6C>T r.(=) p.(=) g.1220366C>T Copied from the Exome Variant Server STK11_000032 1/12534 1/8422 0/4112
?/? c.495G>A r.(=) p.(=) g.1220402G>A Copied from the Exome Variant Server STK11_000033 1/12678 1/8474 0/4204
?/? c.597+14del r.(=) p.(=) g.1220518del Copied from the Exome Variant Server STK11_000034 9/11536 8/7842 1/3694
?/? c.598-8C>T r.(=) p.(=) g.1220572C>T Copied from the Exome Variant Server STK11_000035 13/11868 0/8080 13/3788
?/? c.598-7G>A r.(=) p.(=) g.1220573G>A Copied from the Exome Variant Server STK11_000036 1/11890 1/8092 0/3798
?/? c.618G>A r.(=) p.(=) g.1220600G>A Copied from the Exome Variant Server STK11_000037 1/12028 1/8180 0/3848
?/? c.648C>T r.(=) p.(=) g.1220630C>T Copied from the Exome Variant Server STK11_000038 1/12148 0/8248 1/3900
?/? c.651G>A r.(=) p.(=) g.1220633G>A Copied from the Exome Variant Server STK11_000039 1/12146 0/8250 1/3896
?/? c.734+12_734+13insC r.(=) p.(=) g.1220728_1220729insC Copied from the Exome Variant Server STK11_000040 20/11654 10/7900 10/3754
?/? c.734+19C>T r.(=) p.(=) g.1220735C>T Copied from the Exome Variant Server STK11_000041 1/12238 1/8280 0/3958
?/? c.734+20G>A r.(=) p.(=) g.1220736G>A Copied from the Exome Variant Server STK11_000042 1/12274 1/8286 0/3988
?/? c.734+41T>C r.(=) p.(=) g.1220757T>C Copied from the Exome Variant Server STK11_000043 230/12294 1/8292 229/4002
?/? c.734+49G>A r.(=) p.(=) g.1220765G>A Copied from the Exome Variant Server STK11_000044 10/12244 0/8268 10/3976
?/? c.735-51C>T r.(=) p.(=) g.1221161C>T Copied from the Exome Variant Server STK11_000045 296/6594 186/4352 110/2242
?/? c.735-46A>C r.(=) p.(=) g.1221166A>C Copied from the Exome Variant Server STK11_000046 1/12326 1/8330 0/3996
?/? c.787T>C r.(=) p.(=) g.1221264T>C Copied from the Exome Variant Server STK11_000047 2/12240 2/8262 0/3978
?/? c.816C>T r.(=) p.(=) g.1221293C>T Copied from the Exome Variant Server STK11_000048 299/12196 6/8258 293/3938
?/? c.825G>A r.(=) p.(=) g.1221302G>A Copied from the Exome Variant Server STK11_000049 1/12128 1/8238 0/3890
?/? c.837C>T r.(=) p.(=) g.1221314C>T Copied from the Exome Variant Server STK11_000050 1/12104 1/8226 0/3878
?/? c.841C>A r.(?) p.(Pro281Thr) g.1221318C>A Copied from the Exome Variant Server STK11_000051 1/12072 0/8208 1/3864
?/? c.862+39C>T r.(=) p.(=) g.1221378C>T Copied from the Exome Variant Server STK11_000052 1/11808 0/8134 1/3674
?/? c.863-16G>A r.(=) p.(=) g.1221932G>A Copied from the Exome Variant Server STK11_000053 1/11592 0/7854 1/3738
?/? c.894C>A r.(?) p.(Phe298Leu) g.1221979C>A Copied from the Exome Variant Server STK11_000054 6/12042 0/8138 6/3904
?/? c.902G>A r.(?) p.(Arg301Gln) g.1221987G>A Copied from the Exome Variant Server STK11_000055 1/12038 1/8136 0/3902
?/? c.911G>A r.(?) p.(Arg304Gln) g.1221996G>A Copied from the Exome Variant Server STK11_000056 2/12020 1/8118 1/3902
?/? c.920+7G>C r.(=) p.(=) g.1222012G>C Copied from the Exome Variant Server STK11_000057 1640/11880 1426/8038 214/3842
?/? c.920+28C>T r.(=) p.(=) g.1222033C>T Copied from the Exome Variant Server STK11_000058 2/11718 0/7964 2/3754
?/? c.920+32G>A r.(=) p.(=) g.1222037G>A Copied from the Exome Variant Server STK11_000059 12/11686 10/7936 2/3750
?/? c.921-48C>T r.(=) p.(=) g.1222936C>T Copied from the Exome Variant Server STK11_000060 5/11356 0/7652 5/3704
?/? c.921-25C>T r.(=) p.(=) g.1222959C>T Copied from the Exome Variant Server STK11_000061 1/11956 1/8070 0/3886
?/? c.945G>A r.(=) p.(=) g.1223008G>A Copied from the Exome Variant Server STK11_000062 12/12550 10/8402 2/4148
?/? c.971C>T r.(?) p.(Pro324Leu) g.1223034C>T Copied from the Exome Variant Server STK11_000063 1/12662 1/8440 0/4222
?/? c.992G>A r.(?) p.(Arg331Gln) g.1223055G>A Copied from the Exome Variant Server STK11_000064 1/12778 1/8488 0/4290
?/? c.1014G>A r.(=) p.(=) g.1223077G>A Copied from the Exome Variant Server STK11_000065 1/12784 0/8494 1/4290
?/? c.1027G>A r.(?) p.(Asp343Asn) g.1223090G>A Copied from the Exome Variant Server STK11_000066 1/12800 1/8506 0/4294
?/? c.1032G>A r.(=) p.(=) g.1223095G>A Copied from the Exome Variant Server STK11_000067 1/12808 0/8510 1/4298
?/? c.1036G>A r.(?) p.(Gly346Ser) g.1223099G>A Copied from the Exome Variant Server STK11_000068 1/12816 0/8510 1/4306
?/? c.1039G>A r.(?) p.(Ala347Thr) g.1223102G>A Copied from the Exome Variant Server STK11_000069 1/12822 1/8518 0/4304
?/? c.1062C>G r.(?) p.(Phe354Leu) g.1223125C>G Copied from the Exome Variant Server STK11_000070 49/12822 45/8520 4/4302
?/? c.1107C>T r.(=) p.(=) g.1223170C>T Copied from the Exome Variant Server STK11_000071 1/12594 1/8416 0/4178
?/? c.1108+11C>T r.(=) p.(=) g.1223182C>T Copied from the Exome Variant Server STK11_000072 1/12474 1/8366 0/4108
?/? c.1108+30C>G r.(=) p.(=) g.1223201C>G Copied from the Exome Variant Server STK11_000073 1/12510 1/8392 0/4118
?/? c.1108+40G>A r.(=) p.(=) g.1223211G>A Copied from the Exome Variant Server STK11_000074 2/12582 1/8422 1/4160
?/? c.1109-21C>T r.(=) p.(=) g.1226432C>T Copied from the Exome Variant Server STK11_000075 1/12350 1/8308 0/4042
?/? c.1127A>C r.(?) p.(Glu376Ala) g.1226471A>C Copied from the Exome Variant Server STK11_000076 1/12362 1/8318 0/4044
?/? c.1130C>T r.(?) p.(Ala377Val) g.1226474C>T Copied from the Exome Variant Server STK11_000077 2/12360 2/8316 0/4044
?/? c.1151G>A r.(?) p.(Arg384Gln) g.1226495G>A Copied from the Exome Variant Server STK11_000078 1/12242 1/8252 0/3990
?/? c.1168G>A r.(?) p.(Val390Met) g.1226512G>A Copied from the Exome Variant Server STK11_000079 1/12230 1/8240 0/3990
?/? c.1170G>A r.(=) p.(=) g.1226514G>A Copied from the Exome Variant Server STK11_000080 1/12230 1/8240 0/3990
?/? c.1185A>G r.(=) p.(=) g.1226529A>G Copied from the Exome Variant Server STK11_000081 1/12166 1/8224 0/3942
?/? c.1194G>A r.(=) p.(=) g.1226538G>A Copied from the Exome Variant Server STK11_000082 1/12110 1/8212 0/3898
?/? c.1200G>A r.(=) p.(=) g.1226544G>A Copied from the Exome Variant Server STK11_000083 1/12082 1/8206 0/3876
?/? c.1211C>T r.(?) p.(Ser404Phe) g.1226555C>T Copied from the Exome Variant Server STK11_000084 5/12032 5/8184 0/3848
?/? c.1213A>T r.(?) p.(Arg405Trp) g.1226557A>T Copied from the Exome Variant Server STK11_000085 1/12006 1/8178 0/3828
?/? c.1225C>T r.(?) p.(Arg409Trp) g.1226569C>T Copied from the Exome Variant Server STK11_000086 1/11922 1/8128 0/3794
?/? c.1229C>T r.(?) p.(Ala410Val) g.1226573C>T Copied from the Exome Variant Server STK11_000087 1/11836 1/8084 0/3752
?/? c.1257C>T r.(=) p.(=) g.1226601C>T Copied from the Exome Variant Server STK11_000088 2/11276 2/7732 0/3544
?/? c.1259C>T r.(?) p.(Ala420Val) g.1226603C>T Copied from the Exome Variant Server STK11_000089 1/10922 1/7552 0/3370
?/? c.1284G>A r.(=) p.(=) g.1226628G>A Copied from the Exome Variant Server STK11_000090 5/10346 0/7148 5/3198
Legend