All transcript variants in gene TFDP1

Information The variants shown are described using the NM_007111.4 transcript reference sequence.

129 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.-64-25_-64-21del r.(=) p.(=) g.114240064_114240068del Copied from the Exome Variant Server TFDP1_000001 15/12482 4/8234 11/4248
?/? c.-34A>C r.(=) p.(=) g.114240119A>C Copied from the Exome Variant Server TFDP1_000002 1/13006 1/8600 0/4406
?/? c.-8C>T r.(=) p.(=) g.114240145C>T Copied from the Exome Variant Server TFDP1_000003 10/13006 8/8600 2/4406
?/? c.13-50C>T r.(=) p.(=) g.114265261C>T Copied from the Exome Variant Server TFDP1_000004 5/13006 5/8600 0/4406
?/? c.13-43C>G r.(=) p.(=) g.114265268C>G Copied from the Exome Variant Server TFDP1_000005 1/13006 1/8600 0/4406
?/? c.13-42T>G r.(=) p.(=) g.114265269T>G Copied from the Exome Variant Server TFDP1_000006 1/13006 0/8600 1/4406
?/? c.13-25A>G r.(=) p.(=) g.114265286A>G Copied from the Exome Variant Server TFDP1_000007 1/13006 1/8600 0/4406
?/? c.13-6C>T r.(=) p.(=) g.114265305C>T Copied from the Exome Variant Server TFDP1_000008 483/13006 435/8600 48/4406
?/? c.13-4G>A r.spl? p.? g.114265307G>A Copied from the Exome Variant Server TFDP1_000009 20/13006 19/8600 1/4406
?/? c.15C>T r.(=) p.(=) g.114265313C>T Copied from the Exome Variant Server TFDP1_000010 13/13006 10/8600 3/4406
?/? c.33C>T r.(=) p.(=) g.114265331C>T Copied from the Exome Variant Server TFDP1_000011 263/13006 2/8600 261/4406
?/? c.72C>T r.(=) p.(=) g.114265370C>T Copied from the Exome Variant Server TFDP1_000012 2/13006 1/8600 1/4406
?/? c.79+10C>T r.(=) p.(=) g.114265387C>T Copied from the Exome Variant Server TFDP1_000013 2/13006 2/8600 0/4406
?/? c.79+25C>G r.(=) p.(=) g.114265402C>G Copied from the Exome Variant Server TFDP1_000014 1/13006 1/8600 0/4406
?/? c.80-20C>T r.(=) p.(=) g.114277475C>T Copied from the Exome Variant Server TFDP1_000015 21/13006 0/8600 21/4406
?/? c.81C>T r.(=) p.(=) g.114277496C>T Copied from the Exome Variant Server TFDP1_000016 1/13006 1/8600 0/4406
?/? c.85G>T r.(?) p.(Val29Leu) g.114277500G>T Copied from the Exome Variant Server TFDP1_000017 1/13006 1/8600 0/4406
?/? c.93C>T r.(=) p.(=) g.114277508C>T Copied from the Exome Variant Server TFDP1_000018 1/13006 1/8600 0/4406
?/? c.99C>T r.(=) p.(=) g.114277514C>T Copied from the Exome Variant Server TFDP1_000019 4/13004 0/8600 4/4404
?/? c.100G>A r.(?) p.(Val34Ile) g.114277515G>A Copied from the Exome Variant Server TFDP1_000020 1/13004 0/8600 1/4404
?/? c.115G>A r.(?) p.(Val39Ile) g.114277530G>A Copied from the Exome Variant Server TFDP1_000021 1/13006 1/8600 0/4406
?/? c.122C>T r.(?) p.(Pro41Leu) g.114277537C>T Copied from the Exome Variant Server TFDP1_000022 2/13006 1/8600 1/4406
?/? c.126C>T r.(=) p.(=) g.114277541C>T Copied from the Exome Variant Server TFDP1_000023 87/13006 13/8600 74/4406
?/? c.143C>T r.(?) p.(Pro48Leu) g.114277558C>T Copied from the Exome Variant Server TFDP1_000024 1/13006 0/8600 1/4406
?/? c.159G>C r.(?) p.(Gln53His) g.114277574G>C Copied from the Exome Variant Server TFDP1_000025 12/13006 11/8600 1/4406
?/? c.164A>G r.(?) p.(Asn55Ser) g.114277579A>G Copied from the Exome Variant Server TFDP1_000026 1/13006 0/8600 1/4406
?/? c.186+11C>T r.(=) p.(=) g.114277612C>T Copied from the Exome Variant Server TFDP1_000027 3/12998 3/8600 0/4398
?/? c.186+12G>A r.(=) p.(=) g.114277613G>A Copied from the Exome Variant Server TFDP1_000028 2/12998 2/8600 0/4398
?/? c.186+19C>T r.(=) p.(=) g.114277620C>T Copied from the Exome Variant Server TFDP1_000029 1/12994 0/8598 1/4396
?/? c.186+31A>G r.(=) p.(=) g.114277632A>G Copied from the Exome Variant Server TFDP1_000030 2/12992 0/8598 2/4394
?/? c.186+35C>T r.(=) p.(=) g.114277636C>T Copied from the Exome Variant Server TFDP1_000031 2/12994 0/8596 2/4398
?/? c.186+36G>A r.(=) p.(=) g.114277637G>A Copied from the Exome Variant Server TFDP1_000032 6/12994 6/8596 0/4398
?/? c.186+46C>T r.(=) p.(=) g.114277647C>T Copied from the Exome Variant Server TFDP1_000033 2/12986 1/8592 1/4394
?/? c.187-48G>A r.(=) p.(=) g.114285890G>A Copied from the Exome Variant Server TFDP1_000034 3/13006 0/8600 3/4406
?/? c.187-44T>C r.(=) p.(=) g.114285894T>C Copied from the Exome Variant Server TFDP1_000035 1/13006 1/8600 0/4406
?/? c.187-4G>C r.spl? p.? g.114285934G>C Copied from the Exome Variant Server TFDP1_000036 1/13006 0/8600 1/4406
?/? c.216G>A r.(=) p.(=) g.114285967G>A Copied from the Exome Variant Server TFDP1_000037 1/13006 0/8600 1/4406
?/? c.266C>T r.(?) p.(Ala89Val) g.114286017C>T Copied from the Exome Variant Server TFDP1_000038 1/13006 1/8600 0/4406
?/? c.306C>T r.(=) p.(=) g.114286057C>T Copied from the Exome Variant Server TFDP1_000039 1/13006 1/8600 0/4406
?/? c.308+17G>A r.(=) p.(=) g.114286076G>A Copied from the Exome Variant Server TFDP1_000041 1/13006 1/8600 0/4406
?/? c.308+22C>T r.(=) p.(=) g.114286081C>T Copied from the Exome Variant Server TFDP1_000043 50/13006 2/8600 48/4406
?/? c.308+27A>G r.(=) p.(=) g.114286086A>G Copied from the Exome Variant Server TFDP1_000044 6/13006 0/8600 6/4406
?/? c.308+37C>G r.(=) p.(=) g.114286096C>G Copied from the Exome Variant Server TFDP1_000046 38/13006 1/8600 37/4406
?/? c.308+45G>A r.(=) p.(=) g.114286104G>A Copied from the Exome Variant Server TFDP1_000040 1/13006 1/8600 0/4406
?/? c.309-47C>T r.(=) p.(=) g.114287388C>T Copied from the Exome Variant Server TFDP1_000042 24/13004 14/8600 10/4404
?/? c.309-15C>T r.(=) p.(=) g.114287420C>T Copied from the Exome Variant Server TFDP1_000045 1/13006 0/8600 1/4406
?/? c.372C>T r.(=) p.(=) g.114287498C>T Copied from the Exome Variant Server TFDP1_000047 1/13006 0/8600 1/4406
?/? c.411A>G r.(=) p.(=) g.114287537A>G Copied from the Exome Variant Server TFDP1_000048 1/13006 0/8600 1/4406
?/? c.447C>G r.(=) p.(=) g.114287573C>G Copied from the Exome Variant Server TFDP1_000049 1/13006 1/8600 0/4406
?/? c.448G>A r.(?) p.(Asp150Asn) g.114287574G>A Copied from the Exome Variant Server TFDP1_000050 1/13006 1/8600 0/4406
?/? c.474+19C>T r.(=) p.(=) g.114287619C>T Copied from the Exome Variant Server TFDP1_000051 1/13006 0/8600 1/4406
?/? c.474+26G>A r.(=) p.(=) g.114287626G>A Copied from the Exome Variant Server TFDP1_000052 2/13006 0/8600 2/4406
?/? c.475-48A>G r.(=) p.(=) g.114288157A>G Copied from the Exome Variant Server TFDP1_000053 2/13006 1/8600 1/4406
?/? c.475-46C>T r.(=) p.(=) g.114288159C>T Copied from the Exome Variant Server TFDP1_000054 1/13006 1/8600 0/4406
?/? c.475-33T>C r.(=) p.(=) g.114288172T>C Copied from the Exome Variant Server TFDP1_000055 1/13006 0/8600 1/4406
?/? c.478T>C r.(?) p.(Tyr160His) g.114288208T>C Copied from the Exome Variant Server TFDP1_000056 1/13006 0/8600 1/4406
?/? c.504C>T r.(=) p.(=) g.114288234C>T Copied from the Exome Variant Server TFDP1_000057 1/13006 1/8600 0/4406
?/? c.564G>A r.(=) p.(=) g.114288294G>A Copied from the Exome Variant Server TFDP1_000058 30/13006 0/8600 30/4406
?/? c.618+23A>C r.(=) p.(=) g.114288371A>C Copied from the Exome Variant Server TFDP1_000059 2/13006 0/8600 2/4406
?/? c.618+36del r.(=) p.(=) g.114288384del Copied from the Exome Variant Server TFDP1_000060 2/12518 0/8254 2/4264
?/? c.618+42T>A r.(=) p.(=) g.114288390T>A Copied from the Exome Variant Server TFDP1_000061 1/13006 0/8600 1/4406
?/? c.619-9T>C r.(=) p.(=) g.114288840T>C Copied from the Exome Variant Server TFDP1_000062 4/13006 0/8600 4/4406
?/? c.634A>G r.(?) p.(Arg212Gly) g.114288864A>G Copied from the Exome Variant Server TFDP1_000063 1/13006 1/8600 0/4406
?/? c.663T>C r.(=) p.(=) g.114288893T>C Copied from the Exome Variant Server TFDP1_000064 3/13006 0/8600 3/4406
?/? c.687+3A>G r.spl? p.? g.114288920A>G Copied from the Exome Variant Server TFDP1_000065 1/13006 0/8600 1/4406
?/? c.687+30G>A r.(=) p.(=) g.114288947G>A Copied from the Exome Variant Server TFDP1_000066 3/13006 0/8600 3/4406
?/? c.687+54C>T r.(=) p.(=) g.114288971C>T Copied from the Exome Variant Server TFDP1_000067 2239/4566 1172/3182 1067/1384
?/? c.688-51G>T r.(=) p.(=) g.114290241G>T Copied from the Exome Variant Server TFDP1_000068 2/12994 2/8594 0/4400
?/? c.688-47C>T r.(=) p.(=) g.114290245C>T Copied from the Exome Variant Server TFDP1_000069 3/13000 0/8598 3/4402
?/? c.688-36C>T r.(=) p.(=) g.114290256C>T Copied from the Exome Variant Server TFDP1_000070 55/13004 0/8598 55/4406
?/? c.688-29G>C r.(=) p.(=) g.114290263G>C Copied from the Exome Variant Server TFDP1_000071 32/13006 0/8600 32/4406
?/? c.688-17C>G r.(=) p.(=) g.114290275C>G Copied from the Exome Variant Server TFDP1_000072 1/13006 1/8600 0/4406
?/? c.688-11_688-10insT r.(=) p.(=) g.114290281_114290282insT Copied from the Exome Variant Server TFDP1_000073 13/12518 9/8254 4/4264
?/? c.705C>T r.(=) p.(=) g.114290309C>T Copied from the Exome Variant Server TFDP1_000074 2/13006 2/8600 0/4406
?/? c.709G>C r.(?) p.(Val237Leu) g.114290313G>C Copied from the Exome Variant Server TFDP1_000075 1/13006 1/8600 0/4406
?/? c.728C>T r.(?) p.(Ala243Val) g.114290332C>T Copied from the Exome Variant Server TFDP1_000076 2/13006 2/8600 0/4406
?/? c.729G>A r.(=) p.(=) g.114290333G>A Copied from the Exome Variant Server TFDP1_000077 86/13006 0/8600 86/4406
?/? c.747G>C r.(=) p.(=) g.114290351G>C Copied from the Exome Variant Server TFDP1_000078 1/13006 0/8600 1/4406
?/? c.789C>T r.(=) p.(=) g.114290393C>T Copied from the Exome Variant Server TFDP1_000079 3/13006 1/8600 2/4406
?/? c.792C>T r.(=) p.(=) g.114290396C>T Copied from the Exome Variant Server TFDP1_000080 2/13006 0/8600 2/4406
?/? c.816C>T r.(=) p.(=) g.114290420C>T Copied from the Exome Variant Server TFDP1_000081 3/13006 2/8600 1/4406
?/? c.839+6T>G r.(=) p.(=) g.114290449T>G Copied from the Exome Variant Server TFDP1_000082 10/13006 0/8600 10/4406
?/? c.839+29G>A r.(=) p.(=) g.114290472G>A Copied from the Exome Variant Server TFDP1_000083 49/13006 45/8600 4/4406
?/? c.840-49C>A r.(=) p.(=) g.114290800C>A Copied from the Exome Variant Server TFDP1_000084 1/13006 0/8600 1/4406
?/? c.840-48G>A r.(=) p.(=) g.114290801G>A Copied from the Exome Variant Server TFDP1_000085 1/13006 1/8600 0/4406
?/? c.840-43C>T r.(=) p.(=) g.114290806C>T Copied from the Exome Variant Server TFDP1_000086 9/13006 8/8600 1/4406
?/? c.840-38G>C r.(=) p.(=) g.114290811G>C Copied from the Exome Variant Server TFDP1_000087 3/13006 3/8600 0/4406
?/? c.840-33C>G r.(=) p.(=) g.114290816C>G Copied from the Exome Variant Server TFDP1_000088 1/13006 1/8600 0/4406
?/? c.897G>A r.(=) p.(=) g.114290906G>A Copied from the Exome Variant Server TFDP1_000089 1/13006 0/8600 1/4406
?/? c.922G>A r.(?) p.(Gly308Arg) g.114290931G>A Copied from the Exome Variant Server TFDP1_000090 2/13006 2/8600 0/4406
?/? c.933G>A r.(=) p.(=) g.114290942G>A Copied from the Exome Variant Server TFDP1_000091 1/13006 1/8600 0/4406
?/? c.948C>T r.(=) p.(=) g.114290957C>T Copied from the Exome Variant Server TFDP1_000092 1/13006 1/8600 0/4406
?/? c.971G>A r.(?) p.(Ser324Asn) g.114290980G>A Copied from the Exome Variant Server TFDP1_000094 1/13006 1/8600 0/4406
?/? c.982A>G r.(?) p.(Lys328Glu) g.114290991A>G Copied from the Exome Variant Server TFDP1_000093 2/13006 0/8600 2/4406
?/? c.999C>T r.(=) p.(=) g.114291008C>T Copied from the Exome Variant Server TFDP1_000095 1/13006 1/8600 0/4406
?/? c.1000G>A r.(?) p.(Val334Met) g.114291009G>A Copied from the Exome Variant Server TFDP1_000096 2/13006 1/8600 1/4406
?/? c.1006+3C>T r.spl? p.? g.114291018C>T Copied from the Exome Variant Server TFDP1_000097 1/13006 1/8600 0/4406
?/? c.1006+8A>G r.(=) p.(=) g.114291023A>G Copied from the Exome Variant Server TFDP1_000098 1/13006 1/8600 0/4406
?/? c.1006+20C>T r.(=) p.(=) g.114291035C>T Copied from the Exome Variant Server TFDP1_000099 1/13006 1/8600 0/4406
?/? c.1006+32G>A r.(=) p.(=) g.114291047G>A Copied from the Exome Variant Server TFDP1_000100 1/13004 1/8598 0/4406
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