All transcript variants in gene ABCF3

Information The variants shown are described using the NM_018358.2 transcript reference sequence.

217 entries on 3 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.-61_-60insA r.(=) p.(=) g.183903935_183903936insA Copied from the Exome Variant Server ABCF3_000001 4/12436 2/8208 2/4228
?/? c.-60del r.(=) p.(=) g.183903936del Copied from the Exome Variant Server ABCF3_000003 14/12436 4/8208 10/4228
?/? c.-60dup r.(=) p.(=) g.183903936dup Copied from the Exome Variant Server ABCF3_000002 5490/12436 3876/8208 1614/4228
?/? c.-60_-59insGG r.(=) p.(=) g.183903936_183903937insGG Copied from the Exome Variant Server ABCF3_000004 17/12436 7/8208 10/4228
?/? c.-59dup r.(=) p.(=) g.183903937dup Copied from the Exome Variant Server ABCF3_000005 4112/12484 2634/8230 1478/4254
?/? c.-59_-58insC r.(=) p.(=) g.183903937_183903938insC Copied from the Exome Variant Server ABCF3_000006 1416/12484 1260/8230 156/4254
?/? c.-50C>A r.(=) p.(=) g.183903946C>A Copied from the Exome Variant Server ABCF3_000007 1/13006 0/8600 1/4406
?/? c.-46G>T r.(=) p.(=) g.183903950G>T Copied from the Exome Variant Server ABCF3_000008 3/13006 3/8600 0/4406
?/? c.-43C>T r.(=) p.(=) g.183903953C>T Copied from the Exome Variant Server ABCF3_000009 1/13006 1/8600 0/4406
?/? c.-34A>T r.(=) p.(=) g.183903962A>T Copied from the Exome Variant Server ABCF3_000011 3/13006 3/8600 0/4406
?/? c.-31G>A r.(=) p.(=) g.183903965G>A Copied from the Exome Variant Server ABCF3_000013 1/13006 1/8600 0/4406
?/? c.-1C>T r.(=) p.(=) g.183903995C>T Copied from the Exome Variant Server ABCF3_000015 3/13006 0/8600 3/4406
?/? c.21C>T r.(=) p.(=) g.183904016C>T Copied from the Exome Variant Server ABCF3_000017 1/13006 1/8600 0/4406
?/? c.30C>G r.(?) p.(Ser10Arg) g.183904025C>G Copied from the Exome Variant Server ABCF3_000019 1/13006 1/8600 0/4406
?/? c.36C>T r.(=) p.(=) g.183904031C>T Copied from the Exome Variant Server ABCF3_000021 29/13006 0/8600 29/4406
?/? c.54A>G r.(=) p.(=) g.183904049A>G Copied from the Exome Variant Server ABCF3_000022 1853/13006 1618/8600 235/4406
?/? c.69G>C r.(=) p.(=) g.183904064G>C Copied from the Exome Variant Server ABCF3_000010 1/13006 1/8600 0/4406
?/? c.73+27G>A r.(=) p.(=) g.183904095G>A Copied from the Exome Variant Server ABCF3_000012 1/13006 1/8600 0/4406
?/? c.73+28G>C r.(=) p.(=) g.183904096G>C Copied from the Exome Variant Server ABCF3_000014 23/13006 0/8600 23/4406
?/? c.73+35G>A r.(=) p.(=) g.183904103G>A Copied from the Exome Variant Server ABCF3_000016 4/13006 3/8600 1/4406
?/? c.73+63G>A r.(=) p.(=) g.183904131G>A Copied from the Exome Variant Server ABCF3_000018 50/4566 0/3182 50/1384
?/? c.74-44C>T r.(=) p.(=) g.183904251C>T Copied from the Exome Variant Server ABCF3_000020 1/13006 0/8600 1/4406
?/? c.74-9C>T r.(=) p.(=) g.183904286C>T Copied from the Exome Variant Server ABCF3_000023 1/13006 1/8600 0/4406
?/? c.74-4C>T r.spl? p.? g.183904291C>T Copied from the Exome Variant Server ABCF3_000024 2/13006 2/8600 0/4406
?/? c.92G>T r.(?) p.(Ser31Ile) g.183904313G>T Copied from the Exome Variant Server ABCF3_000025 1/13006 1/8600 0/4406
?/? c.102C>T r.(=) p.(=) g.183904323C>T Copied from the Exome Variant Server ABCF3_000026 1/13006 1/8600 0/4406
?/? c.130G>C r.(?) p.(Val44Leu) g.183904351G>C Copied from the Exome Variant Server ABCF3_000027 2/13006 2/8600 0/4406
?/? c.136_137insAACT r.(?) p.(Leu48Thrfs*12) g.183904357_183904358insAACT Copied from the Exome Variant Server ABCF3_000028 1/12520 1/8254 0/4266
?/? c.144G>A r.(=) p.(=) g.183904365G>A Copied from the Exome Variant Server ABCF3_000029 1/13006 1/8600 0/4406
?/? c.162C>T r.(=) p.(=) g.183904383C>T Copied from the Exome Variant Server ABCF3_000030 1/13006 1/8600 0/4406
?/? c.206A>G r.(?) p.(Tyr69Cys) g.183904427A>G Copied from the Exome Variant Server ABCF3_000031 1/13006 1/8600 0/4406
?/? c.218G>A r.(?) p.(Arg73His) g.183904439G>A Copied from the Exome Variant Server ABCF3_000032 1/13006 1/8600 0/4406
?/? c.221+12G>C r.(=) p.(=) g.183904454G>C Copied from the Exome Variant Server ABCF3_000033 16/13006 0/8600 16/4406
?/? c.221+31G>T r.(=) p.(=) g.183904473G>T Copied from the Exome Variant Server ABCF3_000034 15/13006 0/8600 15/4406
?/? c.221+39A>T r.(=) p.(=) g.183904481A>T Copied from the Exome Variant Server ABCF3_000035 1/13006 0/8600 1/4406
?/? c.222-24C>A r.(=) p.(=) g.183904560C>A Copied from the Exome Variant Server ABCF3_000036 1/13006 0/8600 1/4406
?/? c.222-9C>T r.(=) p.(=) g.183904575C>T Copied from the Exome Variant Server ABCF3_000037 2/13006 0/8600 2/4406
?/? c.265G>A r.(?) p.(Ala89Thr) g.183904627G>A Copied from the Exome Variant Server ABCF3_000038 4/13006 0/8600 4/4406
?/? c.301+17G>A r.(=) p.(=) g.183904680G>A Copied from the Exome Variant Server ABCF3_000039 1/13006 0/8600 1/4406
?/? c.301+27C>T r.(=) p.(=) g.183904690C>T Copied from the Exome Variant Server ABCF3_000040 3/13006 3/8600 0/4406
?/? c.301+49G>A r.(=) p.(=) g.183904712G>A Copied from the Exome Variant Server ABCF3_000041 4/13006 0/8600 4/4406
?/? c.302-38C>T r.(=) p.(=) g.183905147C>T Copied from the Exome Variant Server ABCF3_000042 2/13006 2/8600 0/4406
?/? c.308G>A r.(?) p.(Gly103Glu) g.183905191G>A Copied from the Exome Variant Server ABCF3_000043 1/13006 0/8600 1/4406
?/? c.316C>T r.(?) p.(Leu106Phe) g.183905199C>T Copied from the Exome Variant Server ABCF3_000044 1/13006 0/8600 1/4406
?/? c.348+78G>C r.(=) p.(=) g.183905309G>C Copied from the Exome Variant Server ABCF3_000045 75/4566 64/3182 11/1384
?/? c.349-32C>T r.(=) p.(=) g.183905420C>T Copied from the Exome Variant Server ABCF3_000046 1/13006 1/8600 0/4406
?/? c.349-20C>T r.(=) p.(=) g.183905432C>T Copied from the Exome Variant Server ABCF3_000047 1/13006 0/8600 1/4406
?/? c.425C>T r.(?) p.(Thr142Met) g.183905528C>T Copied from the Exome Variant Server ABCF3_000048 16/13006 0/8600 16/4406
?/? c.440A>G r.(?) p.(Asn147Ser) g.183905543A>G Copied from the Exome Variant Server ABCF3_000049 1/13006 1/8600 0/4406
?/? c.445C>T r.(=) p.(=) g.183905548C>T Copied from the Exome Variant Server ABCF3_000050 1/13006 1/8600 0/4406
?/? c.446+39G>C r.(=) p.(=) g.183905588G>C Copied from the Exome Variant Server ABCF3_000051 1/13006 1/8600 0/4406
?/? c.447-49A>G r.(=) p.(=) g.183905600A>G Copied from the Exome Variant Server ABCF3_000052 13/13006 12/8600 1/4406
?/? c.447-47A>G r.(=) p.(=) g.183905602A>G Copied from the Exome Variant Server ABCF3_000053 2/13006 0/8600 2/4406
?/? c.447-43G>A r.(=) p.(=) g.183905606G>A Copied from the Exome Variant Server ABCF3_000054 1/13006 0/8600 1/4406
?/? c.447-32G>C r.(=) p.(=) g.183905617G>C Copied from the Exome Variant Server ABCF3_000055 1/13006 0/8600 1/4406
?/? c.447-29C>G r.(=) p.(=) g.183905620C>G Copied from the Exome Variant Server ABCF3_000056 1/13006 1/8600 0/4406
?/? c.447-22C>G r.(=) p.(=) g.183905627C>G Copied from the Exome Variant Server ABCF3_000057 2/13006 1/8600 1/4406
?/? c.447-18C>G r.(=) p.(=) g.183905631C>G Copied from the Exome Variant Server ABCF3_000058 218/13006 3/8600 215/4406
?/? c.447-12C>T r.(=) p.(=) g.183905637C>T Copied from the Exome Variant Server ABCF3_000059 1/13006 0/8600 1/4406
?/? c.448G>A r.(?) p.(Val150Ile) g.183905650G>A Copied from the Exome Variant Server ABCF3_000060 2/13006 2/8600 0/4406
?/? c.497G>T r.(?) p.(Arg166Leu) g.183905699G>T Copied from the Exome Variant Server ABCF3_000061 1/13006 0/8600 1/4406
?/? c.508T>G r.(?) p.(Ser170Ala) g.183905710T>G Copied from the Exome Variant Server ABCF3_000062 3/13006 0/8600 3/4406
?/? c.540T>C r.(=) p.(=) g.183905742T>C Copied from the Exome Variant Server ABCF3_000063 1/13006 1/8600 0/4406
?/? c.569+8A>C r.(=) p.(=) g.183905779A>C Copied from the Exome Variant Server ABCF3_000065 363/13006 2/8600 361/4406
?/? c.569+15G>A r.(=) p.(=) g.183905786G>A Copied from the Exome Variant Server ABCF3_000067 1/13004 0/8598 1/4406
?/? c.569+45_569+47del r.(=) p.(=) g.183905816_183905818del Copied from the Exome Variant Server ABCF3_000069 1/12518 0/8252 1/4266
?/? c.570-44C>T r.(=) p.(=) g.183905885C>T Copied from the Exome Variant Server ABCF3_000064 1/13006 1/8600 0/4406
?/? c.636T>C r.(=) p.(=) g.183905995T>C Copied from the Exome Variant Server ABCF3_000066 1/13006 1/8600 0/4406
?/? c.654G>A r.(=) p.(=) g.183906013G>A Copied from the Exome Variant Server ABCF3_000068 1/13006 0/8600 1/4406
?/? c.715G>A r.(?) p.(Val239Ile) g.183906074G>A Copied from the Exome Variant Server ABCF3_000070 2/13006 2/8600 0/4406
?/? c.750C>T r.(=) p.(=) g.183906109C>T Copied from the Exome Variant Server ABCF3_000071 1/13006 1/8600 0/4406
?/? c.766G>A r.(?) p.(Glu256Lys) g.183906125G>A Copied from the Exome Variant Server ABCF3_000072 1/13006 1/8600 0/4406
?/? c.775A>C r.(?) p.(Ser259Arg) g.183906134A>C Copied from the Exome Variant Server ABCF3_000073 1/13006 0/8600 1/4406
?/? c.776G>T r.(?) p.(Ser259Ile) g.183906135G>T Copied from the Exome Variant Server ABCF3_000074 1/13006 1/8600 0/4406
?/? c.781C>T r.(?) p.(Arg261*) g.183906140C>T Copied from the Exome Variant Server ABCF3_000075 1/13006 1/8600 0/4406
?/? c.788A>T r.(?) p.(Asp263Val) g.183906147A>T Copied from the Exome Variant Server ABCF3_000076 1/13006 1/8600 0/4406
?/? c.797G>A r.(?) p.(Arg266Gln) g.183906156G>A Copied from the Exome Variant Server ABCF3_000077 2/13006 1/8600 1/4406
?/? c.819C>G r.(=) p.(=) g.183906178C>G Copied from the Exome Variant Server ABCF3_000078 1/13006 1/8600 0/4406
?/? c.820C>G r.(?) p.(Gln274Glu) g.183906179C>G Copied from the Exome Variant Server ABCF3_000079 1/13006 0/8600 1/4406
?/? c.831T>C r.(=) p.(=) g.183906190T>C Copied from the Exome Variant Server ABCF3_000080 1/13006 0/8600 1/4406
?/? c.836+34C>T r.(=) p.(=) g.183906229C>T Copied from the Exome Variant Server ABCF3_000081 7/12962 1/8574 6/4388
?/? c.836+41G>A r.(=) p.(=) g.183906236G>A Copied from the Exome Variant Server ABCF3_000082 201/12890 3/8534 198/4356
?/? c.837-44A>G r.(=) p.(=) g.183906505A>G Copied from the Exome Variant Server ABCF3_000083 4/13006 3/8600 1/4406
?/? c.837-34T>C r.(=) p.(=) g.183906515T>C Copied from the Exome Variant Server ABCF3_000084 6847/13006 4314/8600 2533/4406
?/? c.837-32C>T r.(=) p.(=) g.183906517C>T Copied from the Exome Variant Server ABCF3_000085 1/13006 1/8600 0/4406
?/? c.837-26C>T r.(=) p.(=) g.183906523C>T Copied from the Exome Variant Server ABCF3_000086 1/13006 1/8600 0/4406
?/? c.837-23A>G r.(=) p.(=) g.183906526A>G Copied from the Exome Variant Server ABCF3_000087 2/13006 0/8600 2/4406
?/? c.839C>T r.(?) p.(Ala280Val) g.183906551C>T Copied from the Exome Variant Server ABCF3_000088 1/13006 1/8600 0/4406
?/? c.840G>A r.(=) p.(=) g.183906552G>A Copied from the Exome Variant Server ABCF3_000089 2/13006 2/8600 0/4406
?/? c.875A>C r.(?) p.(Tyr292Ser) g.183906587A>C Copied from the Exome Variant Server ABCF3_000090 2/13006 2/8600 0/4406
?/? c.917+15C>T r.(=) p.(=) g.183906644C>T Copied from the Exome Variant Server ABCF3_000091 1/13006 1/8600 0/4406
?/? c.918-42G>C r.(=) p.(=) g.183906675G>C Copied from the Exome Variant Server ABCF3_000092 1/13006 0/8600 1/4406
?/? c.918-34del r.(=) p.(=) g.183906683del Copied from the Exome Variant Server ABCF3_000093 5/12520 5/8254 0/4266
?/? c.918-32C>G r.(=) p.(=) g.183906685C>G Copied from the Exome Variant Server ABCF3_000094 5/13006 5/8600 0/4406
?/? c.918-29A>G r.(=) p.(=) g.183906688A>G Copied from the Exome Variant Server ABCF3_000095 1/13006 1/8600 0/4406
?/? c.933C>T r.(=) p.(=) g.183906732C>T Copied from the Exome Variant Server ABCF3_000096 1/13006 1/8600 0/4406
?/? c.948T>C r.(=) p.(=) g.183906747T>C Copied from the Exome Variant Server ABCF3_000097 1/13006 1/8600 0/4406
?/? c.951C>T r.(=) p.(=) g.183906750C>T Copied from the Exome Variant Server ABCF3_000098 3/13006 0/8600 3/4406
?/? c.976C>T r.(?) p.(Arg326Trp) g.183906775C>T Copied from the Exome Variant Server ABCF3_000099 1/13006 1/8600 0/4406
?/? c.977G>A r.(?) p.(Arg326Gln) g.183906776G>A Copied from the Exome Variant Server ABCF3_000100 1/13006 1/8600 0/4406
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