Full data view for gene MITF

Information The variants shown are described using the NM_198159.2 transcript reference sequence.

111 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-34C>T r.(=) p.(=) g.69788715C>T Copied from the Exome Variant Server MITF_000001 2/11842 2/8130 0/3712 - - - - - - -
?/? c.-7G>T r.(=) p.(=) g.69788742G>T Copied from the Exome Variant Server MITF_000002 2/12008 2/8206 0/3802 - - - - - - -
?/? c.26C>G r.(?) p.(Pro9Arg) g.69788774C>G Copied from the Exome Variant Server MITF_000003 1/12172 0/8282 1/3890 - - - - - - -
?/? c.104+24226G>A r.(=) p.(=) g.69813078G>A Copied from the Exome Variant Server MITF_000004 5/11808 0/8166 5/3642 - - - - - - -
?/? c.104+24277A>G r.(=) p.(=) g.69813129A>G Copied from the Exome Variant Server MITF_000005 6/11714 4/8088 2/3626 - - - - - - -
?/? c.105-12907G>A r.(=) p.(=) g.69915378G>A Copied from the Exome Variant Server MITF_000006 1/4566 1/3182 0/1384 - - - - - - -
?/? c.105-12875A>G r.(=) p.(=) g.69915410A>G Copied from the Exome Variant Server MITF_000007 1/12060 0/8254 1/3806 - - - - - - -
?/? c.105-12835G>T r.(=) p.(=) g.69915450G>T Copied from the Exome Variant Server MITF_000008 1/11962 0/8228 1/3734 - - - - - - -
?/? c.105-12806C>T r.(=) p.(=) g.69915479C>T Copied from the Exome Variant Server MITF_000009 1/11900 1/8194 0/3706 - - - - - - -
?/? c.105-12791A>G r.(=) p.(=) g.69915494A>G Copied from the Exome Variant Server MITF_000010 2/11856 1/8186 1/3670 - - - - - - -
?/? c.105-12773A>C r.(=) p.(=) g.69915512A>C Copied from the Exome Variant Server MITF_000011 1/11818 1/8168 0/3650 - - - - - - -
?/? c.105-12756G>A r.(=) p.(=) g.69915529G>A Copied from the Exome Variant Server MITF_000012 1/11782 1/8140 0/3642 - - - - - - -
?/? c.105-12750A>G r.(=) p.(=) g.69915535A>G Copied from the Exome Variant Server MITF_000013 1/11776 1/8142 0/3634 - - - - - - -
?/? c.105-12741G>A r.(=) p.(=) g.69915544G>A Copied from the Exome Variant Server MITF_000014 1/11756 1/8134 0/3622 - - - - - - -
?/? c.105-12736_105-12735insT r.(=) p.(=) g.69915549_69915550insT Copied from the Exome Variant Server MITF_000015 3/11286 1/7800 2/3486 - - - - - - -
?/? c.105-25T>G r.(=) p.(=) g.69928260T>G Copied from the Exome Variant Server MITF_000016 1/12226 0/8312 1/3914 - - - - - - -
?/? c.105-18A>G r.(=) p.(=) g.69928267A>G Copied from the Exome Variant Server MITF_000017 1/12262 1/8324 0/3938 - - - - - - -
?/? c.105-12G>A r.(=) p.(=) g.69928273G>A Copied from the Exome Variant Server MITF_000018 7/12292 1/8342 6/3950 - - - - - - -
?/? c.114C>T r.(=) p.(=) g.69928294C>T Copied from the Exome Variant Server MITF_000019 5/12364 5/8354 0/4010 - - - - - - -
?/? c.211C>G r.(?) p.(Gln71Glu) g.69928391C>G Copied from the Exome Variant Server MITF_000020 1/12794 1/8516 0/4278 - - - - - - -
?/? c.316C>T r.(?) p.(Leu106Phe) g.69928496C>T Copied from the Exome Variant Server MITF_000021 3/12818 0/8502 3/4316 - - - - - - -
?/? c.329C>T r.(?) p.(Thr110Met) g.69928509C>T Copied from the Exome Variant Server MITF_000022 3/12770 3/8490 0/4280 - - - - - - -
?/? c.330G>A r.(=) p.(=) g.69928510G>A Copied from the Exome Variant Server MITF_000023 206/12756 1/8488 205/4268 - - - - - - -
?/? c.345A>G r.(=) p.(=) g.69928525A>G Copied from the Exome Variant Server MITF_000024 1/12700 1/8470 0/4230 - - - - - - -
?/? c.354+17C>G r.(=) p.(=) g.69928551C>G Copied from the Exome Variant Server MITF_000025 1/12566 1/8410 0/4156 - - - - - - -
?/? c.354+44A>G r.(=) p.(=) g.69928578A>G Copied from the Exome Variant Server MITF_000026 1/12326 1/8348 0/3978 - - - - - - -
?/? c.355-1135G>A r.(=) p.(=) g.69985838G>A Copied from the Exome Variant Server MITF_000027 201/13006 78/8600 123/4406 - - - - - - -
?/? c.355-1127C>T r.(=) p.(=) g.69985846C>T Copied from the Exome Variant Server MITF_000028 20/13006 0/8600 20/4406 - - - - - - -
?/? c.355-1113C>T r.(=) p.(=) g.69985860C>T Copied from the Exome Variant Server MITF_000029 8/13006 8/8600 0/4406 - - - - - - -
?/? c.355-1108A>G r.(=) p.(=) g.69985865A>G Copied from the Exome Variant Server MITF_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.355-1102G>T r.(=) p.(=) g.69985871G>T Copied from the Exome Variant Server MITF_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.355-1050C>T r.(=) p.(=) g.69985923C>T Copied from the Exome Variant Server MITF_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.355-1049T>C r.(=) p.(=) g.69985924T>C Copied from the Exome Variant Server MITF_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.355-43A>G r.(=) p.(=) g.69986930A>G Copied from the Exome Variant Server MITF_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.355-25C>G r.(=) p.(=) g.69986948C>G Copied from the Exome Variant Server MITF_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.366C>T r.(=) p.(=) g.69986984C>T Copied from the Exome Variant Server MITF_000036 34/13006 30/8600 4/4406 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.69986987C>T Copied from the Exome Variant Server MITF_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.394C>A r.(?) p.(Gln132Lys) g.69987012C>A Copied from the Exome Variant Server MITF_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.415G>A r.(?) p.(Val139Ile) g.69987033G>A Copied from the Exome Variant Server MITF_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.495C>G r.(=) p.(=) g.69987113C>G Copied from the Exome Variant Server MITF_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.496G>A r.(?) p.(Asp166Asn) g.69987114G>A Copied from the Exome Variant Server MITF_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.505A>C r.(?) p.(Met169Leu) g.69987123A>C Copied from the Exome Variant Server MITF_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.518C>T r.(?) p.(Pro173Leu) g.69987136C>T Copied from the Exome Variant Server MITF_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.519G>A r.(=) p.(=) g.69987137G>A Copied from the Exome Variant Server MITF_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.532C>T r.(?) p.(Pro178Ser) g.69987150C>T Copied from the Exome Variant Server MITF_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.537C>T r.(=) p.(=) g.69987155C>T Copied from the Exome Variant Server MITF_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.582+14C>G r.(=) p.(=) g.69987214C>G Copied from the Exome Variant Server MITF_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.582+40A>G r.(=) p.(=) g.69987240A>G Copied from the Exome Variant Server MITF_000049 4/13006 4/8600 0/4406 - - - - - - -
?/? c.582+280C>T r.(=) p.(=) g.69987480C>T Copied from the Exome Variant Server MITF_000051 56/5724 20/3974 36/1750 - - - - - - -
?/? c.583-50A>G r.(=) p.(=) g.69988199A>G Copied from the Exome Variant Server MITF_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.69988287C>T Copied from the Exome Variant Server MITF_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.632G>A r.(?) p.(Gly211Asp) g.69988298G>A Copied from the Exome Variant Server MITF_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.639C>T r.(=) p.(=) g.69988305C>T Copied from the Exome Variant Server MITF_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.666+5T>C r.spl? p.? g.69988337T>C Copied from the Exome Variant Server MITF_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.666+15G>C r.(=) p.(=) g.69988347G>C Copied from the Exome Variant Server MITF_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.666+38G>C r.(=) p.(=) g.69988370G>C Copied from the Exome Variant Server MITF_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.667-47A>G r.(=) p.(=) g.69990340A>G Copied from the Exome Variant Server MITF_000050 1/13002 1/8596 0/4406 - - - - - - -
?/? c.667-3C>T r.spl? p.? g.69990384C>T Copied from the Exome Variant Server MITF_000052 3/13006 0/8600 3/4406 - - - - - - -
?/? c.726G>C r.(?) p.(Leu242Phe) g.69990446G>C Copied from the Exome Variant Server MITF_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.738T>C r.(=) p.(=) g.69990458T>C Copied from the Exome Variant Server MITF_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.761C>T r.(?) p.(Thr254Met) g.69990481C>T Copied from the Exome Variant Server MITF_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.762G>A r.(=) p.(=) g.69990482G>A Copied from the Exome Variant Server MITF_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.762+31C>T r.(=) p.(=) g.69990513C>T Copied from the Exome Variant Server MITF_000062 3/13006 0/8600 3/4406 - - - - - - -
?/? c.763-40G>C r.(=) p.(=) g.69998162G>C Copied from the Exome Variant Server MITF_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.768T>C r.(=) p.(=) g.69998207T>C Copied from the Exome Variant Server MITF_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.773C>T r.(?) p.(Ser258Leu) g.69998212C>T Copied from the Exome Variant Server MITF_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.880+9C>G r.(=) p.(=) g.69998328C>G Copied from the Exome Variant Server MITF_000067 31/13006 30/8600 1/4406 - - - - - - -
?/? c.881-67T>C r.(=) p.(=) g.70000914T>C Copied from the Exome Variant Server MITF_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.881-47A>G r.(=) p.(=) g.70000934A>G Copied from the Exome Variant Server MITF_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881-25T>A r.(=) p.(=) g.70000956T>A Copied from the Exome Variant Server MITF_000070 6/13006 6/8600 0/4406 - - - - - - -
?/? c.881-18C>T r.(=) p.(=) g.70000963C>T Copied from the Exome Variant Server MITF_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881-5C>A r.spl? p.? g.70000976C>A Copied from the Exome Variant Server MITF_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.938-46A>G r.(=) p.(=) g.70005560A>G Copied from the Exome Variant Server MITF_000073 5/13002 0/8598 5/4404 - - - - - - -
?/? c.968A>G r.(?) p.(Asp323Gly) g.70005636A>G Copied from the Exome Variant Server MITF_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.972C>T r.(=) p.(=) g.70005640C>T Copied from the Exome Variant Server MITF_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.979G>A r.(?) p.(Glu327Lys) g.70005647G>A Copied from the Exome Variant Server MITF_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1013+14C>T r.(=) p.(=) g.70005695C>T Copied from the Exome Variant Server MITF_000077 11/13006 10/8600 1/4406 - - - - - - -
?/? c.1013+31T>C r.(=) p.(=) g.70005712T>C Copied from the Exome Variant Server MITF_000078 284/13006 255/8600 29/4406 - - - - - - -
?/? c.1013+41G>A r.(=) p.(=) g.70005722G>A Copied from the Exome Variant Server MITF_000079 2/13004 2/8600 0/4404 - - - - - - -
?/? c.1014-42T>G r.(=) p.(=) g.70008382T>G Copied from the Exome Variant Server MITF_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1014-40A>G r.(=) p.(=) g.70008384A>G Copied from the Exome Variant Server MITF_000081 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1014-38A>T r.(=) p.(=) g.70008386A>T Copied from the Exome Variant Server MITF_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1014-4G>A r.spl? p.? g.70008420G>A Copied from the Exome Variant Server MITF_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1053C>T r.(=) p.(=) g.70008463C>T Copied from the Exome Variant Server MITF_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1090C>T r.(?) p.(Arg364Cys) g.70008500C>T Copied from the Exome Variant Server MITF_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1100A>G r.(?) p.(Glu367Gly) g.70008510A>G Copied from the Exome Variant Server MITF_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1136A>G r.(?) p.(Asn379Ser) g.70008546A>G Copied from the Exome Variant Server MITF_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1141C>T r.(?) p.(His381Tyr) g.70008551C>T Copied from the Exome Variant Server MITF_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1161+14G>A r.(=) p.(=) g.70008585G>A Copied from the Exome Variant Server MITF_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1161+27T>C r.(=) p.(=) g.70008598T>C Copied from the Exome Variant Server MITF_000090 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1162-27A>G r.(=) p.(=) g.70013971A>G Copied from the Exome Variant Server MITF_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1162G>A r.(?) p.(Glu388Lys) g.70013998G>A Copied from the Exome Variant Server MITF_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1164A>G r.(=) p.(=) g.70014000A>G Copied from the Exome Variant Server MITF_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1195T>C r.(?) p.(Ser399Pro) g.70014031T>C Copied from the Exome Variant Server MITF_000094 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1211C>T r.(?) p.(Thr404Met) g.70014047C>T Copied from the Exome Variant Server MITF_000095 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1255G>A r.(?) p.(Glu419Lys) g.70014091G>A Copied from the Exome Variant Server MITF_000097 29/13006 27/8600 2/4406 - - - - - - -
?/? c.1262T>C r.(?) p.(Val421Ala) g.70014098T>C Copied from the Exome Variant Server MITF_000099 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1344C>G r.(=) p.(=) g.70014180C>G Copied from the Exome Variant Server MITF_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1366G>A r.(?) p.(Gly456Arg) g.70014202G>A Copied from the Exome Variant Server MITF_000104 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1394A>T r.(?) p.(Tyr465Phe) g.70014230A>T Copied from the Exome Variant Server MITF_000106 3/13006 0/8600 3/4406 - - - - - - -
Legend   « First ‹ Prev     1 2     Next › Last »