All transcript variants in gene THRAP3

Information The variants shown are described using the NM_005119.3 transcript reference sequence.

114 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-28T>C r.(=) p.(=) g.36748137T>C Copied from the Exome Variant Server THRAP3_000001 1/13006 1/8600 0/4406
?/? c.68G>A r.(?) p.(Arg23His) g.36748232G>A Copied from the Exome Variant Server THRAP3_000002 1/13006 0/8600 1/4406
?/? c.73C>T r.(?) p.(Arg25Cys) g.36748237C>T Copied from the Exome Variant Server THRAP3_000003 2/13006 2/8600 0/4406
?/? c.84G>A r.(=) p.(=) g.36748248G>A Copied from the Exome Variant Server THRAP3_000004 3/13006 3/8600 0/4406
?/? c.93G>A r.(=) p.(=) g.36748257G>A Copied from the Exome Variant Server THRAP3_000005 1/13006 0/8600 1/4406
?/? c.137+9G>A r.(=) p.(=) g.36748310G>A Copied from the Exome Variant Server THRAP3_000006 1/13006 1/8600 0/4406
?/? c.137+16T>C r.(=) p.(=) g.36748317T>C Copied from the Exome Variant Server THRAP3_000007 2/13006 2/8600 0/4406
?/? c.138-21T>C r.(=) p.(=) g.36751948T>C Copied from the Exome Variant Server THRAP3_000008 1/13006 0/8600 1/4406
?/? c.138-9C>T r.(=) p.(=) g.36751960C>T Copied from the Exome Variant Server THRAP3_000009 5/13004 0/8600 5/4404
?/? c.302G>A r.(?) p.(Arg101Gln) g.36752133G>A Copied from the Exome Variant Server THRAP3_000010 1/13006 1/8600 0/4406
?/? c.321C>T r.(=) p.(=) g.36752152C>T Copied from the Exome Variant Server THRAP3_000011 3915/13006 3300/8600 615/4406
?/? c.414G>A r.(=) p.(=) g.36752245G>A Copied from the Exome Variant Server THRAP3_000012 504/13006 1/8600 503/4406
?/? c.458G>A r.(?) p.(Arg153Gln) g.36752289G>A Copied from the Exome Variant Server THRAP3_000013 2/13006 0/8600 2/4406
?/? c.468C>G r.(=) p.(=) g.36752299C>G Copied from the Exome Variant Server THRAP3_000014 1/13006 1/8600 0/4406
?/? c.473C>T r.(?) p.(Ser158Leu) g.36752304C>T Copied from the Exome Variant Server THRAP3_000015 1/13006 1/8600 0/4406
?/? c.496C>T r.(?) p.(His166Tyr) g.36752327C>T Copied from the Exome Variant Server THRAP3_000016 2/13006 2/8600 0/4406
?/? c.503G>A r.(?) p.(Arg168Gln) g.36752334G>A Copied from the Exome Variant Server THRAP3_000017 1/13006 1/8600 0/4406
?/? c.561C>T r.(=) p.(=) g.36752392C>T Copied from the Exome Variant Server THRAP3_000018 2/13006 2/8600 0/4406
?/? c.579C>T r.(=) p.(=) g.36752410C>T Copied from the Exome Variant Server THRAP3_000019 19/13006 11/8600 8/4406
?/? c.602C>T r.(?) p.(Ala201Val) g.36752433C>T Copied from the Exome Variant Server THRAP3_000020 10161/13006 7549/8600 2612/4406
?/? c.605A>G r.(?) p.(Lys202Arg) g.36752436A>G Copied from the Exome Variant Server THRAP3_000021 71/13006 0/8600 71/4406
?/? c.609G>C r.(?) p.(Glu203Asp) g.36752440G>C Copied from the Exome Variant Server THRAP3_000022 1/13006 1/8600 0/4406
?/? c.622G>A r.(?) p.(Gly208Arg) g.36752453G>A Copied from the Exome Variant Server THRAP3_000023 1/13006 1/8600 0/4406
?/? c.660G>A r.(=) p.(=) g.36752491G>A Copied from the Exome Variant Server THRAP3_000024 1/13000 0/8594 1/4406
?/? c.672A>G r.(=) p.(=) g.36752503A>G Copied from the Exome Variant Server THRAP3_000025 8/13006 0/8600 8/4406
?/? c.684C>T r.(=) p.(=) g.36752515C>T Copied from the Exome Variant Server THRAP3_000026 82/13006 1/8600 81/4406
?/? c.714A>C r.(=) p.(=) g.36752545A>C Copied from the Exome Variant Server THRAP3_000027 1/13006 1/8600 0/4406
?/? c.755A>G r.(?) p.(Lys252Arg) g.36752586A>G Copied from the Exome Variant Server THRAP3_000028 1/13006 0/8600 1/4406
?/? c.856A>G r.(?) p.(Thr286Ala) g.36752687A>G Copied from the Exome Variant Server THRAP3_000029 782/13006 9/8600 773/4406
?/? c.864G>A r.(=) p.(=) g.36752695G>A Copied from the Exome Variant Server THRAP3_000030 1/13006 1/8600 0/4406
?/? c.872C>T r.(?) p.(Ala291Val) g.36752703C>T Copied from the Exome Variant Server THRAP3_000031 1/13006 0/8600 1/4406
?/? c.874G>A r.(?) p.(Gly292Arg) g.36752705G>A Copied from the Exome Variant Server THRAP3_000032 2/13006 1/8600 1/4406
?/? c.883T>G r.(?) p.(Ser295Ala) g.36752714T>G Copied from the Exome Variant Server THRAP3_000033 1/13006 1/8600 0/4406
?/? c.907G>A r.(?) p.(Asp303Asn) g.36752738G>A Copied from the Exome Variant Server THRAP3_000034 1/13006 1/8600 0/4406
?/? c.911A>G r.(?) p.(His304Arg) g.36752742A>G Copied from the Exome Variant Server THRAP3_000035 7/13006 0/8600 7/4406
?/? c.1040+17C>T r.(=) p.(=) g.36752888C>T Copied from the Exome Variant Server THRAP3_000036 1/13006 0/8600 1/4406
?/? c.1040+39C>T r.(=) p.(=) g.36752910C>T Copied from the Exome Variant Server THRAP3_000037 1/13004 1/8600 0/4404
?/? c.1041-7_1041-6insA r.(=) p.(=) g.36754654_36754655insA Copied from the Exome Variant Server THRAP3_000038 108/12144 103/8158 5/3986
?/? c.1041G>A r.(=) p.(=) g.36754661G>A Copied from the Exome Variant Server THRAP3_000039 1/12768 1/8544 0/4224
?/? c.1046T>C r.(?) p.(Leu349Pro) g.36754666T>C Copied from the Exome Variant Server THRAP3_000040 2/12812 0/8558 2/4254
?/? c.1062A>G r.(=) p.(=) g.36754682A>G Copied from the Exome Variant Server THRAP3_000041 7/12928 0/8584 7/4344
?/? c.1149G>C r.(?) p.(Leu383Phe) g.36754769G>C Copied from the Exome Variant Server THRAP3_000043 7/13006 5/8600 2/4406
?/? c.1164G>A r.(?) p.(Met388Ile) g.36754784G>A Copied from the Exome Variant Server THRAP3_000045 42/13004 0/8600 42/4404
?/? c.1191T>A r.(=) p.(=) g.36754811T>A Copied from the Exome Variant Server THRAP3_000047 5/13006 0/8600 5/4406
?/? c.1345G>A r.(?) p.(Glu449Lys) g.36754965G>A Copied from the Exome Variant Server THRAP3_000049 3/13006 0/8600 3/4406
?/? c.1359G>A r.(?) p.(Met453Ile) g.36754979G>A Copied from the Exome Variant Server THRAP3_000051 1/13006 1/8600 0/4406
?/? c.1380C>G r.(?) p.(Asn460Lys) g.36755000C>G Copied from the Exome Variant Server THRAP3_000054 1/13006 1/8600 0/4406
?/? c.1420C>G r.(?) p.(Leu474Val) g.36755040C>G Copied from the Exome Variant Server THRAP3_000055 3/13006 3/8600 0/4406
?/? c.1425A>G r.(=) p.(=) g.36755045A>G Copied from the Exome Variant Server THRAP3_000058 1/13006 1/8600 0/4406
?/? c.1519A>G r.(?) p.(Arg507Gly) g.36755139A>G Copied from the Exome Variant Server THRAP3_000059 1/13006 0/8600 1/4406
?/? c.1541G>T r.(?) p.(Gly514Val) g.36755161G>T Copied from the Exome Variant Server THRAP3_000042 1/13006 0/8600 1/4406
?/? c.1623C>T r.(=) p.(=) g.36755243C>T Copied from the Exome Variant Server THRAP3_000044 1/13006 0/8600 1/4406
?/? c.1666A>G r.(?) p.(Thr556Ala) g.36755286A>G Copied from the Exome Variant Server THRAP3_000046 1/13006 1/8600 0/4406
?/? c.1708A>G r.(?) p.(Asn570Asp) g.36755328A>G Copied from the Exome Variant Server THRAP3_000048 1/13006 1/8600 0/4406
?/? c.1734G>A r.(=) p.(=) g.36755354G>A Copied from the Exome Variant Server THRAP3_000050 2/13002 2/8598 0/4404
?/? c.1741G>A r.(?) p.(Ala581Thr) g.36755361G>A Copied from the Exome Variant Server THRAP3_000052 5/13004 0/8598 5/4406
?/? c.1745+6A>T r.(=) p.(=) g.36755371A>T Copied from the Exome Variant Server THRAP3_000053 1/13000 0/8598 1/4402
?/? c.1745+16T>C r.(=) p.(=) g.36755381T>C Copied from the Exome Variant Server THRAP3_000056 145/12996 2/8594 143/4402
?/? c.1746-20T>G r.(=) p.(=) g.36756955T>G Copied from the Exome Variant Server THRAP3_000057 1/13006 0/8600 1/4406
?/? c.1815G>A r.(=) p.(=) g.36757044G>A Copied from the Exome Variant Server THRAP3_000060 1/13006 1/8600 0/4406
?/? c.1823G>A r.(?) p.(Arg608His) g.36757052G>A Copied from the Exome Variant Server THRAP3_000061 4/13006 3/8600 1/4406
?/? c.1884C>T r.(=) p.(=) g.36757113C>T Copied from the Exome Variant Server THRAP3_000062 1/13006 0/8600 1/4406
?/? c.1919-52A>G r.(=) p.(=) g.36758147A>G Copied from the Exome Variant Server THRAP3_000063 1/5734 0/3982 1/1752
?/? c.1931G>A r.(?) p.(Gly644Glu) g.36758211G>A Copied from the Exome Variant Server THRAP3_000064 1/13006 1/8600 0/4406
?/? c.1935C>A r.(=) p.(=) g.36758215C>A Copied from the Exome Variant Server THRAP3_000065 55/13006 2/8600 53/4406
?/? c.1995G>C r.(?) p.(Glu665Asp) g.36758275G>C Copied from the Exome Variant Server THRAP3_000066 1/13006 0/8600 1/4406
?/? c.2016C>T r.(=) p.(=) g.36758296C>T Copied from the Exome Variant Server THRAP3_000067 1/13006 0/8600 1/4406
?/? c.2030+13G>A r.(=) p.(=) g.36758323G>A Copied from the Exome Variant Server THRAP3_000068 3/13006 0/8600 3/4406
?/? c.2030+31T>C r.(=) p.(=) g.36758341T>C Copied from the Exome Variant Server THRAP3_000069 4/13006 0/8600 4/4406
?/? c.2030+41C>A r.(=) p.(=) g.36758351C>A Copied from the Exome Variant Server THRAP3_000070 1/13006 1/8600 0/4406
?/? c.2031-40_2031-39insA r.(=) p.(=) g.36759412_36759413insA Copied from the Exome Variant Server THRAP3_000071 2/12520 0/8254 2/4266
?/? c.2031-33G>T r.(=) p.(=) g.36759419G>T Copied from the Exome Variant Server THRAP3_000072 1/13006 1/8600 0/4406
?/? c.2031-26A>G r.(=) p.(=) g.36759426A>G Copied from the Exome Variant Server THRAP3_000073 38/13006 31/8600 7/4406
?/? c.2054C>T r.(?) p.(Thr685Ile) g.36759475C>T Copied from the Exome Variant Server THRAP3_000074 1/13006 0/8600 1/4406
?/? c.2058C>G r.(?) p.(Phe686Leu) g.36759479C>G Copied from the Exome Variant Server THRAP3_000075 1/13006 0/8600 1/4406
?/? c.2077C>T r.(?) p.(His693Tyr) g.36759498C>T Copied from the Exome Variant Server THRAP3_000076 1/13006 0/8600 1/4406
?/? c.2115+21G>C r.(=) p.(=) g.36759557G>C Copied from the Exome Variant Server THRAP3_000077 1/13006 0/8600 1/4406
?/? c.2115+43G>C r.(=) p.(=) g.36759579G>C Copied from the Exome Variant Server THRAP3_000078 1/13006 1/8600 0/4406
?/? c.2115+53_2115+54insT r.(=) p.(=) g.36759589_36759590insT Copied from the Exome Variant Server THRAP3_000079 1/12520 0/8254 1/4266
?/? c.2116-10C>A r.(=) p.(=) g.36762174C>A Copied from the Exome Variant Server THRAP3_000080 2/13006 0/8600 2/4406
?/? c.2168G>A r.(?) p.(Arg723His) g.36762236G>A Copied from the Exome Variant Server THRAP3_000081 1/13006 0/8600 1/4406
?/? c.2194C>G r.(?) p.(Leu732Val) g.36762262C>G Copied from the Exome Variant Server THRAP3_000082 1/13006 0/8600 1/4406
?/? c.2201G>A r.(?) p.(Arg734Gln) g.36762269G>A Copied from the Exome Variant Server THRAP3_000083 1/13006 0/8600 1/4406
?/? c.2282A>G r.(?) p.(His761Arg) g.36762350A>G Copied from the Exome Variant Server THRAP3_000084 3/13006 3/8600 0/4406
?/? c.2303+20C>T r.(=) p.(=) g.36762391C>T Copied from the Exome Variant Server THRAP3_000085 1/13006 0/8600 1/4406
?/? c.2303+25C>T r.(=) p.(=) g.36762396C>T Copied from the Exome Variant Server THRAP3_000086 12228/13006 8593/8600 3635/4406
?/? c.2303+49T>A r.(=) p.(=) g.36762420T>A Copied from the Exome Variant Server THRAP3_000087 2/13000 2/8596 0/4404
?/? c.2304-48T>C r.(=) p.(=) g.36766439T>C Copied from the Exome Variant Server THRAP3_000088 2/13006 0/8600 2/4406
?/? c.2304-17C>T r.(=) p.(=) g.36766470C>T Copied from the Exome Variant Server THRAP3_000089 1/13006 0/8600 1/4406
?/? c.2304-15C>T r.(=) p.(=) g.36766472C>T Copied from the Exome Variant Server THRAP3_000090 1/13006 0/8600 1/4406
?/? c.2304-4A>C r.spl? p.? g.36766483A>C Copied from the Exome Variant Server THRAP3_000091 1/13006 0/8600 1/4406
?/? c.2331C>T r.(=) p.(=) g.36766514C>T Copied from the Exome Variant Server THRAP3_000092 1/13006 1/8600 0/4406
?/? c.2333G>C r.(?) p.(Arg778Thr) g.36766516G>C Copied from the Exome Variant Server THRAP3_000093 1/13006 1/8600 0/4406
?/? c.2421G>A r.(=) p.(=) g.36766604G>A Copied from the Exome Variant Server THRAP3_000094 75/13006 65/8600 10/4406
?/? c.2503-33C>G r.(=) p.(=) g.36767121C>G Copied from the Exome Variant Server THRAP3_000095 1/13006 0/8600 1/4406
?/? c.2503-5A>G r.spl? p.? g.36767149A>G Copied from the Exome Variant Server THRAP3_000096 1/13006 1/8600 0/4406
?/? c.2510G>A r.(?) p.(Arg837Gln) g.36767161G>A Copied from the Exome Variant Server THRAP3_000097 1/13006 0/8600 1/4406
?/? c.2531G>T r.(?) p.(Gly844Val) g.36767182G>T Copied from the Exome Variant Server THRAP3_000098 1/13006 0/8600 1/4406
?/? c.2533A>G r.(?) p.(Arg845Gly) g.36767184A>G Copied from the Exome Variant Server THRAP3_000099 1/13006 1/8600 0/4406
?/? c.2582A>G r.(?) p.(Gln861Arg) g.36767233A>G Copied from the Exome Variant Server THRAP3_000100 1/13006 1/8600 0/4406
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