All transcript variants in gene MTF1

Information The variants shown are described using the NM_005955.2 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-39G>A r.(=) p.(=) g.38323369C>T Copied from the Exome Variant Server MTF1_000093 1/13006 0/8600 1/4406
?/? c.-35T>C r.(=) p.(=) g.38323365A>G Copied from the Exome Variant Server MTF1_000092 4/13006 4/8600 0/4406
?/? c.99C>T r.(=) p.(=) g.38323232G>A Copied from the Exome Variant Server MTF1_000091 2/13006 2/8600 0/4406
?/? c.135T>C r.(=) p.(=) g.38323196A>G Copied from the Exome Variant Server MTF1_000090 1/13006 1/8600 0/4406
?/? c.189C>A r.(?) p.(Asp63Glu) g.38323142G>T Copied from the Exome Variant Server MTF1_000089 80/13006 77/8600 3/4406
?/? c.192C>T r.(=) p.(=) g.38323139G>A Copied from the Exome Variant Server MTF1_000088 3/13006 1/8600 2/4406
?/? c.213G>A r.(=) p.(=) g.38323118C>T Copied from the Exome Variant Server MTF1_000087 1/13006 0/8600 1/4406
?/? c.223G>C r.(?) p.(Val75Leu) g.38323108C>G Copied from the Exome Variant Server MTF1_000086 1/13006 0/8600 1/4406
?/? c.261A>G r.(=) p.(=) g.38323070T>C Copied from the Exome Variant Server MTF1_000085 1/13006 1/8600 0/4406
?/? c.390G>A r.(=) p.(=) g.38322941C>T Copied from the Exome Variant Server MTF1_000084 2/13006 1/8600 1/4406
?/? c.400C>T r.(?) p.(Arg134Cys) g.38322931G>A Copied from the Exome Variant Server MTF1_000083 1/13006 1/8600 0/4406
?/? c.409-4C>T r.spl? p.? g.38305834G>A Copied from the Exome Variant Server MTF1_000082 1/13006 0/8600 1/4406
?/? c.468C>T r.(=) p.(=) g.38305771G>A Copied from the Exome Variant Server MTF1_000081 1/13006 1/8600 0/4406
?/? c.471G>A r.(=) p.(=) g.38305768C>T Copied from the Exome Variant Server MTF1_000079 1/13006 0/8600 1/4406
?/? c.582C>T r.(=) p.(=) g.38305657G>A Copied from the Exome Variant Server MTF1_000077 1/13006 0/8600 1/4406
?/? c.585G>A r.(=) p.(=) g.38305654C>T Copied from the Exome Variant Server MTF1_000075 1/13006 1/8600 0/4406
?/? c.647+9C>T r.(=) p.(=) g.38305583G>A Copied from the Exome Variant Server MTF1_000073 5/13006 2/8600 3/4406
?/? c.647+17A>G r.(=) p.(=) g.38305575T>C Copied from the Exome Variant Server MTF1_000071 1/13006 1/8600 0/4406
?/? c.647+23T>G r.(=) p.(=) g.38305569A>C Copied from the Exome Variant Server MTF1_000069 1/13006 0/8600 1/4406
?/? c.647+29C>T r.(=) p.(=) g.38305563G>A Copied from the Exome Variant Server MTF1_000067 1/13006 0/8600 1/4406
?/? c.647+45T>C r.(=) p.(=) g.38305547A>G Copied from the Exome Variant Server MTF1_000065 172/13006 1/8600 171/4406
?/? c.648-39A>G r.(=) p.(=) g.38304467T>C Copied from the Exome Variant Server MTF1_000063 10/13002 0/8596 10/4406
?/? c.648-16C>G r.(=) p.(=) g.38304444G>C Copied from the Exome Variant Server MTF1_000061 2/13006 0/8600 2/4406
?/? c.648-16del r.(=) p.(=) g.38304444del Copied from the Exome Variant Server MTF1_000059 1/12520 0/8254 1/4266
?/? c.648G>A r.(=) p.(=) g.38304428C>T Copied from the Exome Variant Server MTF1_000080 1/13006 1/8600 0/4406
?/? c.681A>G r.(=) p.(=) g.38304395T>C Copied from the Exome Variant Server MTF1_000078 1/13006 1/8600 0/4406
?/? c.684G>A r.(=) p.(=) g.38304392C>T Copied from the Exome Variant Server MTF1_000076 2/13006 1/8600 1/4406
?/? c.696A>C r.(?) p.(Glu232Asp) g.38304380T>G Copied from the Exome Variant Server MTF1_000074 1/13006 1/8600 0/4406
?/? c.779+42G>C r.(=) p.(=) g.38304255C>G Copied from the Exome Variant Server MTF1_000072 102/13006 86/8600 16/4406
?/? c.780-60C>T r.(=) p.(=) g.38301476G>A Copied from the Exome Variant Server MTF1_000070 2745/4566 2238/3182 507/1384
?/? c.780-47G>C r.(=) p.(=) g.38301463C>G Copied from the Exome Variant Server MTF1_000068 1/13006 1/8600 0/4406
?/? c.780-41T>C r.(=) p.(=) g.38301457A>G Copied from the Exome Variant Server MTF1_000066 3/13006 3/8600 0/4406
?/? c.780-33T>C r.(=) p.(=) g.38301449A>G Copied from the Exome Variant Server MTF1_000064 3/13006 0/8600 3/4406
?/? c.783C>T r.(=) p.(=) g.38301413G>A Copied from the Exome Variant Server MTF1_000062 1/13006 1/8600 0/4406
?/? c.789C>T r.(=) p.(=) g.38301407G>A Copied from the Exome Variant Server MTF1_000060 1/13006 0/8600 1/4406
?/? c.837C>T r.(=) p.(=) g.38301359G>A Copied from the Exome Variant Server MTF1_000058 1/13006 0/8600 1/4406
?/? c.853+3G>C r.spl? p.? g.38301340C>G Copied from the Exome Variant Server MTF1_000057 1/13006 1/8600 0/4406
?/? c.853+62G>A r.(=) p.(=) g.38301281C>T Copied from the Exome Variant Server MTF1_000056 1/4566 1/3182 0/1384
?/? c.909A>G r.(=) p.(=) g.38300832T>C Copied from the Exome Variant Server MTF1_000055 2/13006 1/8600 1/4406
?/? c.990+33C>G r.(=) p.(=) g.38300718G>C Copied from the Exome Variant Server MTF1_000054 6/13006 0/8600 6/4406
?/? c.1047A>G r.(=) p.(=) g.38297938T>C Copied from the Exome Variant Server MTF1_000053 1/13006 1/8600 0/4406
?/? c.1068+15A>G r.(=) p.(=) g.38297902T>C Copied from the Exome Variant Server MTF1_000052 3/13006 0/8600 3/4406
?/? c.1069-28A>G r.(=) p.(=) g.38289512T>C Copied from the Exome Variant Server MTF1_000051 2/13006 1/8600 1/4406
?/? c.1091C>T r.(?) p.(Thr364Ile) g.38289462G>A Copied from the Exome Variant Server MTF1_000050 47/13006 41/8600 6/4406
?/? c.1141A>G r.(?) p.(Thr381Ala) g.38289412T>C Copied from the Exome Variant Server MTF1_000049 1/13006 1/8600 0/4406
?/? c.1153G>A r.(?) p.(Glu385Lys) g.38289400C>T Copied from the Exome Variant Server MTF1_000048 3/13006 3/8600 0/4406
?/? c.1170A>G r.(=) p.(=) g.38289383T>C Copied from the Exome Variant Server MTF1_000047 2953/13006 2492/8600 461/4406
?/? c.1171+11C>T r.(=) p.(=) g.38289371G>A Copied from the Exome Variant Server MTF1_000046 3/13006 3/8600 0/4406
?/? c.1171+26C>T r.(=) p.(=) g.38289356G>A Copied from the Exome Variant Server MTF1_000045 2/13006 2/8600 0/4406
?/? c.1171+42C>T r.(=) p.(=) g.38289340G>A Copied from the Exome Variant Server MTF1_000044 2/13006 0/8600 2/4406
?/? c.1171+50_1171+51del r.(=) p.(=) g.38289331_38289332del Copied from the Exome Variant Server MTF1_000043 1/12520 1/8254 0/4266
?/? c.1224G>A r.(=) p.(=) g.38288336C>T Copied from the Exome Variant Server MTF1_000042 2/13006 0/8600 2/4406
?/? c.1250T>C r.(?) p.(Leu417Ser) g.38288310A>G Copied from the Exome Variant Server MTF1_000041 1/13006 0/8600 1/4406
?/? c.1284C>T r.(=) p.(=) g.38288276G>A Copied from the Exome Variant Server MTF1_000040 1/13006 1/8600 0/4406
?/? c.1300C>G r.(?) p.(Leu434Val) g.38288260G>C Copied from the Exome Variant Server MTF1_000039 1/13006 0/8600 1/4406
?/? c.1318C>T r.(?) p.(Pro440Ser) g.38288242G>A Copied from the Exome Variant Server MTF1_000038 63/13006 0/8600 63/4406
?/? c.1327C>T r.(?) p.(Pro443Ser) g.38288233G>A Copied from the Exome Variant Server MTF1_000037 1/13006 1/8600 0/4406
?/? c.1331C>T r.(?) p.(Pro444Leu) g.38288229G>A Copied from the Exome Variant Server MTF1_000036 1/13006 0/8600 1/4406
?/? c.1333C>T r.(?) p.(Pro445Ser) g.38288227G>A Copied from the Exome Variant Server MTF1_000035 25/13006 0/8600 25/4406
?/? c.1352C>T r.(?) p.(Pro451Leu) g.38288208G>A Copied from the Exome Variant Server MTF1_000034 1/13006 0/8600 1/4406
?/? c.1377C>T r.(=) p.(=) g.38288183G>A Copied from the Exome Variant Server MTF1_000033 1/13006 0/8600 1/4406
?/? c.1381C>G r.(?) p.(Pro461Ala) g.38288179G>C Copied from the Exome Variant Server MTF1_000032 1/13006 1/8600 0/4406
?/? c.1397A>C r.(?) p.(Gln466Pro) g.38288163T>G Copied from the Exome Variant Server MTF1_000030 1/13006 1/8600 0/4406
?/? c.1411C>T r.(?) p.(Pro471Ser) g.38288149G>A Copied from the Exome Variant Server MTF1_000027 1/13006 1/8600 0/4406
?/? c.1417C>G r.(?) p.(Pro473Ala) g.38288143G>C Copied from the Exome Variant Server MTF1_000025 1/13006 0/8600 1/4406
?/? c.1460C>T r.(?) p.(Pro487Leu) g.38288100G>A Copied from the Exome Variant Server MTF1_000023 2/13006 0/8600 2/4406
?/? c.1479G>T r.(?) p.(Gln493His) g.38288081C>A Copied from the Exome Variant Server MTF1_000021 2/13006 0/8600 2/4406
?/? c.1486G>A r.(?) p.(Val496Ile) g.38288074C>T Copied from the Exome Variant Server MTF1_000020 1/13006 1/8600 0/4406
?/? c.1530G>A r.(=) p.(=) g.38288030C>T Copied from the Exome Variant Server MTF1_000018 3/13006 0/8600 3/4406
?/? c.1539A>G r.(=) p.(=) g.38288021T>C Copied from the Exome Variant Server MTF1_000016 1/13006 1/8600 0/4406
?/? c.1568A>C r.(?) p.(Gln523Pro) g.38287992T>G Copied from the Exome Variant Server MTF1_000014 2/13006 1/8600 1/4406
?/? c.1593C>G r.(=) p.(=) g.38287967G>C Copied from the Exome Variant Server MTF1_000012 1/13006 1/8600 0/4406
?/? c.1615G>C r.(?) p.(Gly539Arg) g.38287945C>G Copied from the Exome Variant Server MTF1_000010 1/13006 1/8600 0/4406
?/? c.1693C>A r.(?) p.(Leu565Ile) g.38287867G>T Copied from the Exome Variant Server MTF1_000008 1/13006 0/8600 1/4406
?/? c.1719A>G r.(=) p.(=) g.38287841T>C Copied from the Exome Variant Server MTF1_000031 1/13006 1/8600 0/4406
?/? c.1723A>G r.(?) p.(Ile575Val) g.38287837T>C Copied from the Exome Variant Server MTF1_000029 3/13006 3/8600 0/4406
?/? c.1767+11T>C r.(=) p.(=) g.38287782A>G Copied from the Exome Variant Server MTF1_000028 172/13006 1/8600 171/4406
?/? c.1768-37C>T r.(=) p.(=) g.38283191G>A Copied from the Exome Variant Server MTF1_000026 1/13006 1/8600 0/4406
?/? c.1768-21G>A r.(=) p.(=) g.38283175C>T Copied from the Exome Variant Server MTF1_000024 1/13006 0/8600 1/4406
?/? c.1811T>C r.(?) p.(Val604Ala) g.38283111A>G Copied from the Exome Variant Server MTF1_000022 1/13006 1/8600 0/4406
?/? c.1895G>A r.(?) p.(Cys632Tyr) g.38281175C>T Copied from the Exome Variant Server MTF1_000019 1/13006 0/8600 1/4406
?/? c.1967C>T r.(?) p.(Pro656Leu) g.38281103G>A Copied from the Exome Variant Server MTF1_000017 1/13006 1/8600 0/4406
?/? c.2024C>T r.(?) p.(Ala675Val) g.38281046G>A Copied from the Exome Variant Server MTF1_000015 2/13006 2/8600 0/4406
?/? c.2025G>A r.(=) p.(=) g.38281045C>T Copied from the Exome Variant Server MTF1_000013 1/13006 1/8600 0/4406
?/? c.2043C>T r.(=) p.(=) g.38281027G>A Copied from the Exome Variant Server MTF1_000011 1/13006 0/8600 1/4406
?/? c.2070C>T r.(=) p.(=) g.38281000G>A Copied from the Exome Variant Server MTF1_000009 1/13006 0/8600 1/4406
?/? c.2108C>T r.(?) p.(Thr703Ile) g.38280962G>A Copied from the Exome Variant Server MTF1_000007 3/13006 3/8600 0/4406
?/? c.2117A>G r.(?) p.(Asp706Gly) g.38280953T>C Copied from the Exome Variant Server MTF1_000006 21/13006 17/8600 4/4406
?/? c.2163A>G r.(=) p.(=) g.38280907T>C Copied from the Exome Variant Server MTF1_000005 7/13006 2/8600 5/4406
?/? c.2187G>A r.(=) p.(=) g.38280883C>T Copied from the Exome Variant Server MTF1_000004 1/13006 1/8600 0/4406
?/? c.2204T>C r.(?) p.(Ile735Thr) g.38280866A>G Copied from the Exome Variant Server MTF1_000003 5/13006 4/8600 1/4406
?/? c.2222G>T r.(?) p.(Gly741Val) g.38280848C>A Copied from the Exome Variant Server MTF1_000002 1/13006 1/8600 0/4406
?/? c.*14G>A r.(=) p.(=) g.38280794C>T Copied from the Exome Variant Server MTF1_000001 1/13006 0/8600 1/4406
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