Unique variants in gene MET

Information The variants shown are described using the NM_000245.2 transcript reference sequence.

176 entries on 2 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.-14-21G>A r.(=) p.(=) g.116339104G>A Copied from the Exome Variant Server MET_000001 1/11946 0/8210 1/3736
1 c.-14-13C>T r.(=) p.(=) g.116339112C>T Copied from the Exome Variant Server MET_000002 100/11994 0/8234 100/3760
1 c.-14-4G>A r.(=) p.(=) g.116339121G>A Copied from the Exome Variant Server MET_000003 36/12020 0/8242 36/3778
1 c.71G>A r.(?) p.(Gly24Glu) g.116339209G>A Copied from the Exome Variant Server MET_000004 4/12246 0/8340 4/3906
1 c.103A>T r.(?) p.(Met35Leu) g.116339241A>T Copied from the Exome Variant Server MET_000005 5/12246 0/8326 5/3920
1 c.105G>C r.(?) p.(Met35Ile) g.116339243G>C Copied from the Exome Variant Server MET_000006 1/12248 0/8324 1/3924
1 c.110T>C r.(?) p.(Val37Ala) g.116339248T>C Copied from the Exome Variant Server MET_000007 1/12250 1/8322 0/3928
1 c.142G>A r.(?) p.(Ala48Thr) g.116339280G>A Copied from the Exome Variant Server MET_000008 1/12234 1/8302 0/3932
1 c.144G>A r.(=) p.(=) g.116339282G>A Copied from the Exome Variant Server MET_000009 433/12234 391/8306 42/3928
1 c.146A>C r.(?) p.(Glu49Ala) g.116339284A>C Copied from the Exome Variant Server MET_000010 3/12246 0/8318 3/3928
1 c.173A>G r.(?) p.(His58Arg) g.116339311A>G Copied from the Exome Variant Server MET_000011 1/12182 1/8282 0/3900
1 c.181C>G r.(?) p.(His61Asp) g.116339319C>G Copied from the Exome Variant Server MET_000012 1/12130 1/8252 0/3878
1 c.229G>A r.(?) p.(Asp77Asn) g.116339367G>A Copied from the Exome Variant Server MET_000013 1/12090 0/8264 1/3826
1 c.268C>T r.(=) p.(=) g.116339406C>T Copied from the Exome Variant Server MET_000015 1/12204 0/8312 1/3892
1 c.281A>G r.(?) p.(Asp94Gly) g.116339419A>G Copied from the Exome Variant Server MET_000017 1/12210 0/8308 1/3902
1 c.287T>G r.(?) p.(Phe96Cys) g.116339425T>G Copied from the Exome Variant Server MET_000019 1/12216 1/8316 0/3900
1 c.289C>G r.(?) p.(Pro97Ala) g.116339427C>G Copied from the Exome Variant Server MET_000021 3/12222 0/8316 3/3906
1 c.331G>A r.(?) p.(Val111Ile) g.116339469G>A Copied from the Exome Variant Server MET_000023 1/12354 1/8358 0/3996
1 c.390C>T r.(=) p.(=) g.116339528C>T Copied from the Exome Variant Server MET_000025 85/12424 2/8396 83/4028
1 c.406G>A r.(?) p.(Val136Ile) g.116339544G>A Copied from the Exome Variant Server MET_000027 2/12420 2/8376 0/4044
1 c.428G>A r.(?) p.(Arg143Gln) g.116339566G>A Copied from the Exome Variant Server MET_000029 1/12422 1/8380 0/4042
1 c.438T>C r.(=) p.(=) g.116339576T>C Copied from the Exome Variant Server MET_000031 1/12440 1/8392 0/4048
1 c.467C>T r.(?) p.(Ser156Leu) g.116339605C>T Copied from the Exome Variant Server MET_000033 7/12426 0/8386 7/4040
1 c.504G>T r.(?) p.(Glu168Asp) g.116339642G>T Copied from the Exome Variant Server MET_000035 65/12304 57/8314 8/3990
1 c.534C>T r.(=) p.(=) g.116339672C>T Copied from the Exome Variant Server MET_000037 851/12216 337/8286 514/3930
1 c.553C>A r.(?) p.(Leu185Ile) g.116339691C>A Copied from the Exome Variant Server MET_000014 1/12138 1/8256 0/3882
1 c.581A>C r.(?) p.(Asn194Thr) g.116339719A>C Copied from the Exome Variant Server MET_000016 1/12076 0/8226 1/3850
1 c.607T>A r.(?) p.(Ser203Thr) g.116339745T>A Copied from the Exome Variant Server MET_000018 4/12018 2/8228 2/3790
1 c.638C>T r.(?) p.(Ser213Leu) g.116339776C>T Copied from the Exome Variant Server MET_000020 1/12020 1/8232 0/3788
1 c.654G>A r.(=) p.(=) g.116339792G>A Copied from the Exome Variant Server MET_000022 20/12024 0/8234 20/3790
1 c.665C>T r.(?) p.(Thr222Met) g.116339803C>T Copied from the Exome Variant Server MET_000024 2/12024 1/8234 1/3790
1 c.675T>C r.(=) p.(=) g.116339813T>C Copied from the Exome Variant Server MET_000026 1/12010 1/8226 0/3784
1 c.690G>A r.(=) p.(=) g.116339828G>A Copied from the Exome Variant Server MET_000028 1/12032 1/8230 0/3802
1 c.798G>A r.(=) p.(=) g.116339936G>A Copied from the Exome Variant Server MET_000030 5/11898 0/8208 5/3690
1 c.818C>G r.(?) p.(Thr273Ser) g.116339956C>G Copied from the Exome Variant Server MET_000032 1/11884 1/8198 0/3686
1 c.901A>G r.(?) p.(Thr301Ala) g.116340039A>G Copied from the Exome Variant Server MET_000034 8/11864 4/8186 4/3678
1 c.939G>A r.(=) p.(=) g.116340077G>A Copied from the Exome Variant Server MET_000036 1/11912 1/8190 0/3722
1 c.948A>G r.(?) p.(Ile316Met) g.116340086A>G Copied from the Exome Variant Server MET_000038 75/11920 3/8188 72/3732
1 c.959C>T r.(?) p.(Ala320Val) g.116340097C>T Copied from the Exome Variant Server MET_000039 9/11954 4/8188 5/3766
1 c.960G>A r.(=) p.(=) g.116340098G>A Copied from the Exome Variant Server MET_000040 2/11968 1/8190 1/3778
1 c.967A>G r.(?) p.(Ser323Gly) g.116340105A>G Copied from the Exome Variant Server MET_000041 5/11986 4/8196 1/3790
1 c.1019A>G r.(?) p.(Asp340Gly) g.116340157A>G Copied from the Exome Variant Server MET_000042 1/12132 1/8270 0/3862
1 c.1038C>T r.(=) p.(=) g.116340176C>T Copied from the Exome Variant Server MET_000043 1/12188 1/8288 0/3900
1 c.1039G>A r.(?) p.(Ala347Thr) g.116340177G>A Copied from the Exome Variant Server MET_000044 13/12202 9/8296 4/3906
1 c.1076G>A r.(?) p.(Arg359Gln) g.116340214G>A Copied from the Exome Variant Server MET_000045 4/12214 3/8308 1/3906
1 c.1085T>C r.(?) p.(Met362Thr) g.116340223T>C Copied from the Exome Variant Server MET_000046 84/12200 2/8308 82/3892
1 c.1106A>G r.(?) p.(Tyr369Cys) g.116340244A>G Copied from the Exome Variant Server MET_000047 1/12164 1/8288 0/3876
1 c.1124A>G r.(?) p.(Asn375Ser) g.116340262A>G Copied from the Exome Variant Server MET_000048 177/12132 151/8278 26/3854
1 c.1131C>T r.(=) p.(=) g.116340269C>T Copied from the Exome Variant Server MET_000049 753/12138 9/8280 744/3858
1 c.1191C>T r.(=) p.(=) g.116340329C>T Copied from the Exome Variant Server MET_000050 3/11944 0/8208 3/3736
1 c.1200+46A>C r.(=) p.(=) g.116340384A>C Copied from the Exome Variant Server MET_000051 2/11720 2/8124 0/3596
1 c.1201-50C>G r.(=) p.(=) g.116371672C>G Copied from the Exome Variant Server MET_000052 1/11926 1/8200 0/3726
1 c.1221A>G r.(=) p.(=) g.116371742A>G Copied from the Exome Variant Server MET_000053 1/11906 1/8178 0/3728
1 c.1233G>A r.(=) p.(=) g.116371754G>A Copied from the Exome Variant Server MET_000054 1/11938 0/8194 1/3744
1 c.1234C>T r.(?) p.(Arg412Cys) g.116371755C>T Copied from the Exome Variant Server MET_000055 1/11938 1/8194 0/3744
1 c.1235G>A r.(?) p.(Arg412His) g.116371756G>A Copied from the Exome Variant Server MET_000056 1/11946 0/8194 1/3752
1 c.1238G>A r.(?) p.(Arg413His) g.116371759G>A Copied from the Exome Variant Server MET_000057 2/11964 1/8196 1/3768
1 c.1249C>A r.(=) p.(=) g.116371770C>A Copied from the Exome Variant Server MET_000058 1/12002 0/8214 1/3788
1 c.1270T>C r.(=) p.(=) g.116371791T>C Copied from the Exome Variant Server MET_000059 2/12050 0/8226 2/3824
1 c.1279G>A r.(?) p.(Val427Ile) g.116371800G>A Copied from the Exome Variant Server MET_000060 1/12082 1/8230 0/3852
1 c.1365T>G r.(=) p.(=) g.116371886T>G Copied from the Exome Variant Server MET_000061 1/12130 1/8262 0/3868
1 c.1412G>A r.(?) p.(Gly471Glu) g.116380023G>A Copied from the Exome Variant Server MET_000062 2/11904 2/8178 0/3726
1 c.1414C>T r.(?) p.(Pro472Ser) g.116380025C>T Copied from the Exome Variant Server MET_000063 1/11912 0/8184 1/3728
1 c.1527+32C>T r.(=) p.(=) g.116380170C>T Copied from the Exome Variant Server MET_000064 1/11918 0/8204 1/3714
1 c.1527+51A>G r.(=) p.(=) g.116380189A>G Copied from the Exome Variant Server MET_000065 11/11920 11/8200 0/3720
1 c.1532C>T r.(?) p.(Thr511Met) g.116380910C>T Copied from the Exome Variant Server MET_000066 1/11986 1/8222 0/3764
1 c.1584A>G r.(=) p.(=) g.116380962A>G Copied from the Exome Variant Server MET_000067 1/12172 1/8286 0/3886
1 c.1618_1619insG r.(?) p.(Cys541Valfs*32) g.116380996_116380997insG Copied from the Exome Variant Server MET_000068 16/11632 9/7910 7/3722
1 c.1659C>T r.(=) p.(=) g.116381037C>T Copied from the Exome Variant Server MET_000069 1/12246 1/8298 0/3948
1 c.1663A>G r.(?) p.(Thr555Ala) g.116381041A>G Copied from the Exome Variant Server MET_000070 1/12220 1/8292 0/3928
1 c.1669A>G r.(?) p.(Thr557Ala) g.116381047A>G Copied from the Exome Variant Server MET_000071 1/12216 0/8292 1/3924
1 c.1701+25A>G r.(=) p.(=) g.116381104A>G Copied from the Exome Variant Server MET_000072 374/11968 5/8196 369/3772
1 c.1715G>A r.(?) p.(Ser572Asn) g.116395422G>A Copied from the Exome Variant Server MET_000074 28/11746 0/8154 28/3592
1 c.1839T>G r.(=) p.(=) g.116395546T>G Copied from the Exome Variant Server MET_000076 1/11906 1/8200 0/3706
1 c.1854G>A r.(=) p.(=) g.116395561G>A Copied from the Exome Variant Server MET_000078 1/11892 0/8194 1/3698
1 c.1858A>G r.(?) p.(Asn620Asp) g.116395565A>G Copied from the Exome Variant Server MET_000073 1/11894 1/8194 0/3700
1 c.1862C>T r.(?) p.(Thr621Ile) g.116395569C>T Copied from the Exome Variant Server MET_000075 5/11884 5/8194 0/3690
1 c.1862+43A>T r.(=) p.(=) g.116395612A>T Copied from the Exome Variant Server MET_000077 1/11832 0/8160 1/3672
1 c.1863-13_1863-12insT r.(=) p.(=) g.116397478_116397479insT Copied from the Exome Variant Server MET_000079 6/11334 5/7814 1/3520
1 c.1932C>T r.(=) p.(=) g.116397560C>T Copied from the Exome Variant Server MET_000080 3/11908 0/8200 3/3708
1 c.1944A>G r.(=) p.(=) g.116397572A>G Copied from the Exome Variant Server MET_000081 2007/11896 1521/8186 486/3710
1 c.1966-36A>G r.(=) p.(=) g.116397656A>G Copied from the Exome Variant Server MET_000082 4/11768 4/8142 0/3626
1 c.1966-23T>C r.(=) p.(=) g.116397669T>C Copied from the Exome Variant Server MET_000083 1/11754 1/8138 0/3616
1 c.1988C>T r.(?) p.(Ser663Leu) g.116397714C>T Copied from the Exome Variant Server MET_000084 1/11802 0/8160 1/3642
1 c.1989G>A r.(=) p.(=) g.116397715G>A Copied from the Exome Variant Server MET_000085 1/11816 0/8166 1/3650
1 c.1992G>A r.(=) p.(=) g.116397718G>A Copied from the Exome Variant Server MET_000086 1/11822 1/8166 0/3656
1 c.2097A>G r.(=) p.(=) g.116397823A>G Copied from the Exome Variant Server MET_000087 1/11824 1/8172 0/3652
1 c.2102+9A>T r.(=) p.(=) g.116397837A>T Copied from the Exome Variant Server MET_000089 1/11800 0/8162 1/3638
1 c.2110A>G r.(?) p.(Asn704Asp) g.116398520A>G Copied from the Exome Variant Server MET_000091 3/11804 0/8154 3/3650
1 c.2191C>A r.(=) p.(=) g.116398601C>A Copied from the Exome Variant Server MET_000093 1/11804 1/8158 0/3646
1 c.2198C>T r.(?) p.(Thr733Ile) g.116398608C>T Copied from the Exome Variant Server MET_000095 3/11816 0/8156 3/3660
1 c.2216G>A r.(?) p.(Arg739His) g.116398626G>A Copied from the Exome Variant Server MET_000097 1/11808 0/8158 1/3650
1 c.2265-37C>T r.(=) p.(=) g.116399408C>T Copied from the Exome Variant Server MET_000099 1/11974 1/8228 0/3746
1 c.2265-31A>G r.(=) p.(=) g.116399414A>G Copied from the Exome Variant Server MET_000101 1/11970 1/8230 0/3740
1 c.2339A>G r.(?) p.(His780Arg) g.116399519A>G Copied from the Exome Variant Server MET_000103 1/12134 1/8266 0/3868
1 c.2365-38G>A r.(=) p.(=) g.116403066G>A Copied from the Exome Variant Server MET_000105 2/11958 0/8200 2/3758
1 c.2365-21G>C r.(=) p.(=) g.116403083G>C Copied from the Exome Variant Server MET_000107 30/12036 26/8236 4/3800
1 c.2377C>T r.(?) p.(Arg793Cys) g.116403116C>T Copied from the Exome Variant Server MET_000109 2/12118 1/8250 1/3868
1 c.2378G>A r.(?) p.(Arg793His) g.116403117G>A Copied from the Exome Variant Server MET_000111 3/12126 0/8254 3/3872
1 c.2381C>G r.(?) p.(Ser794Cys) g.116403120C>G Copied from the Exome Variant Server MET_000113 1/12122 1/8252 0/3870
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