All transcript variants in gene CSF2RA

Information The variants shown are described using the NM_001161529.1 transcript reference sequence.

157 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     
?/? c.-26-7C>T r.(=) p.(=) g.1401564C>T Copied from the Exome Variant Server CSF2RA_000001 2/12998 0/8592 2/4406
?/? c.-20_-19insCT r.(=) p.(=) g.1401577_1401578insCT Copied from the Exome Variant Server CSF2RA_000002 1/12504 1/8246 0/4258
?/? c.-8C>G r.(=) p.(=) g.1401589C>G Copied from the Exome Variant Server CSF2RA_000003 1/12998 1/8592 0/4406
?/? c.15G>T r.(=) p.(=) g.1401611G>T Copied from the Exome Variant Server CSF2RA_000004 1/12998 1/8592 0/4406
?/? c.22C>G r.(?) p.(Leu8Val) g.1401618C>G Copied from the Exome Variant Server CSF2RA_000005 1/12998 1/8592 0/4406
?/? c.50C>G r.(?) p.(Ala17Gly) g.1401646C>G Copied from the Exome Variant Server CSF2RA_000006 2890/12998 358/8592 2532/4406
?/? c.76+24C>G r.(=) p.(=) g.1401696C>G Copied from the Exome Variant Server CSF2RA_000007 1/12998 1/8592 0/4406
?/? c.76+34G>C r.(=) p.(=) g.1401706G>C Copied from the Exome Variant Server CSF2RA_000008 3/12998 3/8592 0/4406
?/? c.76+36C>T r.(=) p.(=) g.1401708C>T Copied from the Exome Variant Server CSF2RA_000009 106/12998 1/8592 105/4406
?/? c.76+51C>T r.(=) p.(=) g.1401723C>T Copied from the Exome Variant Server CSF2RA_000010 42/12998 0/8592 42/4406
?/? c.77-48_77-46del r.(=) p.(=) g.1404623_1404625del Copied from the Exome Variant Server CSF2RA_000011 2204/12496 1909/8240 295/4256
?/? c.77-48_77-45del r.(=) p.(=) g.1404623_1404626del Copied from the Exome Variant Server CSF2RA_000012 412/12496 278/8240 134/4256
?/? c.77-47_77-46del r.(=) p.(=) g.1404624_1404625del Copied from the Exome Variant Server CSF2RA_000013 2340/12504 2018/8246 322/4258
?/? c.77-16T>C r.(=) p.(=) g.1404655T>C Copied from the Exome Variant Server CSF2RA_000014 9/12998 7/8592 2/4406
?/? c.77-12C>T r.(=) p.(=) g.1404659C>T Copied from the Exome Variant Server CSF2RA_000015 3/12998 2/8592 1/4406
?/? c.77A>T r.(?) p.(Asp26Val) g.1404671A>T Copied from the Exome Variant Server CSF2RA_000016 1/12998 0/8592 1/4406
?/? c.101C>G r.(?) p.(Ser34Cys) g.1404695C>G Copied from the Exome Variant Server CSF2RA_000017 2/12998 1/8592 1/4406
?/? c.116G>A r.(?) p.(Arg39Lys) g.1404710G>A Copied from the Exome Variant Server CSF2RA_000018 1/12998 0/8592 1/4406
?/? c.191A>G r.(?) p.(Asp64Gly) g.1404785A>G Copied from the Exome Variant Server CSF2RA_000019 5/12998 5/8592 0/4406
?/? c.213A>G r.(=) p.(=) g.1404807A>G Copied from the Exome Variant Server CSF2RA_000020 1/12998 1/8592 0/4406
?/? c.214C>T r.(?) p.(Pro72Ser) g.1404808C>T Copied from the Exome Variant Server CSF2RA_000021 1/12998 1/8592 0/4406
?/? c.219+15C>G r.(=) p.(=) g.1404828C>G Copied from the Exome Variant Server CSF2RA_000022 1/12998 1/8592 0/4406
?/? c.219+19T>G r.(=) p.(=) g.1404832T>G Copied from the Exome Variant Server CSF2RA_000023 2444/12998 2124/8592 320/4406
?/? c.219+42C>T r.(=) p.(=) g.1404855C>T Copied from the Exome Variant Server CSF2RA_000024 94/12998 1/8592 93/4406
?/? c.220-41G>A r.(=) p.(=) g.1407371G>A Copied from the Exome Variant Server CSF2RA_000025 2/12998 0/8592 2/4406
?/? c.220-35T>C r.(=) p.(=) g.1407377T>C Copied from the Exome Variant Server CSF2RA_000026 244/12998 2/8592 242/4406
?/? c.222C>T r.(=) p.(=) g.1407414C>T Copied from the Exome Variant Server CSF2RA_000027 1/12998 1/8592 0/4406
?/? c.223A>G r.(?) p.(Ser75Gly) g.1407415A>G Copied from the Exome Variant Server CSF2RA_000028 147/12998 0/8592 147/4406
?/? c.251G>A r.(?) p.(Arg84His) g.1407443G>A Copied from the Exome Variant Server CSF2RA_000029 9/12998 7/8592 2/4406
?/? c.279A>G r.(=) p.(=) g.1407471A>G Copied from the Exome Variant Server CSF2RA_000030 25/12998 20/8592 5/4406
?/? c.300T>C r.(=) p.(=) g.1407492T>C Copied from the Exome Variant Server CSF2RA_000031 48/12998 0/8592 48/4406
?/? c.334C>T r.(?) p.(Pro112Ser) g.1407526C>T Copied from the Exome Variant Server CSF2RA_000032 6/12998 5/8592 1/4406
?/? c.343+25G>A r.(=) p.(=) g.1407560G>A Copied from the Exome Variant Server CSF2RA_000033 1/12998 0/8592 1/4406
?/? c.343+47C>T r.(=) p.(=) g.1407582C>T Copied from the Exome Variant Server CSF2RA_000034 4/12998 4/8592 0/4406
?/? c.343+50C>T r.(=) p.(=) g.1407585C>T Copied from the Exome Variant Server CSF2RA_000035 129/12998 110/8592 19/4406
?/? c.358G>A r.(?) p.(Ala120Thr) g.1407666G>A Copied from the Exome Variant Server CSF2RA_000036 1/12998 1/8592 0/4406
?/? c.393G>A r.(=) p.(=) g.1407701G>A Copied from the Exome Variant Server CSF2RA_000037 13/12998 0/8592 13/4406
?/? c.417G>A r.(=) p.(=) g.1407725G>A Copied from the Exome Variant Server CSF2RA_000038 1/12998 1/8592 0/4406
?/? c.420G>C r.(?) p.(Arg140Ser) g.1407728G>C Copied from the Exome Variant Server CSF2RA_000039 1/12998 0/8592 1/4406
?/? c.425C>T r.(?) p.(Pro142Leu) g.1407733C>T Copied from the Exome Variant Server CSF2RA_000040 211/12998 1/8592 210/4406
?/? c.428C>T r.(?) p.(Thr143Met) g.1407736C>T Copied from the Exome Variant Server CSF2RA_000041 2/12998 2/8592 0/4406
?/? c.429G>A r.(=) p.(=) g.1407737G>A Copied from the Exome Variant Server CSF2RA_000042 1/12998 1/8592 0/4406
?/? c.447G>A r.(=) p.(=) g.1407755G>A Copied from the Exome Variant Server CSF2RA_000043 3/12996 2/8590 1/4406
?/? c.473+16_473+17del r.(=) p.(=) g.1407797_1407798del Copied from the Exome Variant Server CSF2RA_000044 5730/12492 4938/8238 792/4254
?/? c.473+29T>C r.(=) p.(=) g.1407810T>C Copied from the Exome Variant Server CSF2RA_000045 1/12982 1/8578 0/4404
?/? c.473+44T>C r.(=) p.(=) g.1407825T>C Copied from the Exome Variant Server CSF2RA_000046 4/12956 4/8566 0/4390
?/? c.473+46G>A r.(=) p.(=) g.1407827G>A Copied from the Exome Variant Server CSF2RA_000047 1/12948 0/8562 1/4386
?/? c.474G>A r.(=) p.(=) g.1409230G>A Copied from the Exome Variant Server CSF2RA_000048 1/12998 0/8592 1/4406
?/? c.490C>T r.(?) p.(Arg164Trp) g.1409246C>T Copied from the Exome Variant Server CSF2RA_000049 1/12998 1/8592 0/4406
?/? c.491G>A r.(?) p.(Arg164Gln) g.1409247G>A Copied from the Exome Variant Server CSF2RA_000050 72/12998 66/8592 6/4406
?/? c.530G>C r.(?) p.(Gly177Ala) g.1409286G>C Copied from the Exome Variant Server CSF2RA_000051 4/12998 4/8592 0/4406
?/? c.540G>A r.(=) p.(=) g.1409296G>A Copied from the Exome Variant Server CSF2RA_000052 17/12998 0/8592 17/4406
?/? c.547C>G r.(?) p.(Leu183Val) g.1409303C>G Copied from the Exome Variant Server CSF2RA_000053 1/12998 0/8592 1/4406
?/? c.549G>C r.(=) p.(=) g.1409305G>C Copied from the Exome Variant Server CSF2RA_000054 33/12998 1/8592 32/4406
?/? c.552A>G r.(=) p.(=) g.1409308A>G Copied from the Exome Variant Server CSF2RA_000055 4/12998 1/8592 3/4406
?/? c.561G>A r.(=) p.(=) g.1409317G>A Copied from the Exome Variant Server CSF2RA_000056 392/12998 2/8592 390/4406
?/? c.565C>T r.(?) p.(Arg189Cys) g.1409321C>T Copied from the Exome Variant Server CSF2RA_000057 1/12998 0/8592 1/4406
?/? c.566G>A r.(?) p.(Arg189His) g.1409322G>A Copied from the Exome Variant Server CSF2RA_000058 4/12998 3/8592 1/4406
?/? c.585C>T r.(=) p.(=) g.1409341C>T Copied from the Exome Variant Server CSF2RA_000059 3/12998 3/8592 0/4406
?/? c.596G>A r.(?) p.(Arg199Gln) g.1409352G>A Copied from the Exome Variant Server CSF2RA_000060 1/12998 0/8592 1/4406
?/? c.634A>G r.(?) p.(Thr212Ala) g.1409390A>G Copied from the Exome Variant Server CSF2RA_000061 1/12998 1/8592 0/4406
?/? c.646+3G>A r.spl? p.? g.1409405G>A Copied from the Exome Variant Server CSF2RA_000062 1/12998 1/8592 0/4406
?/? c.646+8T>C r.(=) p.(=) g.1409410T>C Copied from the Exome Variant Server CSF2RA_000063 1/12998 0/8592 1/4406
?/? c.646+9A>G r.(=) p.(=) g.1409411A>G Copied from the Exome Variant Server CSF2RA_000064 4/12998 0/8592 4/4406
?/? c.646+18G>T r.(=) p.(=) g.1409420G>T Copied from the Exome Variant Server CSF2RA_000065 1552/12998 780/8592 772/4406
?/? c.647-47G>A r.(=) p.(=) g.1413174G>A Copied from the Exome Variant Server CSF2RA_000066 42/12998 41/8592 1/4406
?/? c.647-13G>A r.(=) p.(=) g.1413208G>A Copied from the Exome Variant Server CSF2RA_000067 7/12998 6/8592 1/4406
?/? c.647-7G>A r.(=) p.(=) g.1413214G>A Copied from the Exome Variant Server CSF2RA_000068 28/12998 1/8592 27/4406
?/? c.650G>A r.(?) p.(Arg217Gln) g.1413224G>A Copied from the Exome Variant Server CSF2RA_000069 1/12998 0/8592 1/4406
?/? c.676G>A r.(?) p.(Val226Ile) g.1413250G>A Copied from the Exome Variant Server CSF2RA_000070 5/12998 5/8592 0/4406
?/? c.689C>T r.(?) p.(Thr230Met) g.1413263C>T Copied from the Exome Variant Server CSF2RA_000071 1/12998 0/8592 1/4406
?/? c.692C>T r.(?) p.(Thr231Met) g.1413266C>T Copied from the Exome Variant Server CSF2RA_000072 7/12998 5/8592 2/4406
?/? c.720C>T r.(=) p.(=) g.1413294C>T Copied from the Exome Variant Server CSF2RA_000073 1/12998 1/8592 0/4406
?/? c.756G>C r.(?) p.(Gln252His) g.1413330G>C Copied from the Exome Variant Server CSF2RA_000074 1/12998 1/8592 0/4406
?/? c.780+3C>T r.spl? p.? g.1413357C>T Copied from the Exome Variant Server CSF2RA_000075 4/12998 0/8592 4/4406
?/? c.780+42G>A r.(=) p.(=) g.1413396G>A Copied from the Exome Variant Server CSF2RA_000076 3/12996 0/8592 3/4404
?/? c.780+45C>T r.(=) p.(=) g.1413399C>T Copied from the Exome Variant Server CSF2RA_000077 61/12994 6/8592 55/4402
?/? c.781-70G>A r.(=) p.(=) g.1414250G>A Copied from the Exome Variant Server CSF2RA_000078 1/4566 0/3182 1/1384
?/? c.781-45A>G r.(=) p.(=) g.1414275A>G Copied from the Exome Variant Server CSF2RA_000079 2/12998 2/8592 0/4406
?/? c.781-18_781-17insT r.(=) p.(=) g.1414302_1414303insT Copied from the Exome Variant Server CSF2RA_000080 1/12504 0/8246 1/4258
?/? c.781-15T>G r.(=) p.(=) g.1414305T>G Copied from the Exome Variant Server CSF2RA_000081 1/12998 1/8592 0/4406
?/? c.787C>T r.(?) p.(Gln263*) g.1414326C>T Copied from the Exome Variant Server CSF2RA_000082 2/12998 2/8592 0/4406
?/? c.810+30C>T r.(=) p.(=) g.1414379C>T Copied from the Exome Variant Server CSF2RA_000083 1/12998 1/8592 0/4406
?/? c.810+48G>A r.(=) p.(=) g.1414397G>A Copied from the Exome Variant Server CSF2RA_000084 2/12998 2/8592 0/4406
?/? c.810+70G>A r.(=) p.(=) g.1414419G>A Copied from the Exome Variant Server CSF2RA_000085 420/4566 342/3182 78/1384
?/? c.811-28A>G r.(=) p.(=) g.1419356A>G Copied from the Exome Variant Server CSF2RA_000086 1/12998 0/8592 1/4406
?/? c.821C>G r.(?) p.(Ser274Cys) g.1419394C>G Copied from the Exome Variant Server CSF2RA_000087 1/12998 1/8592 0/4406
?/? c.826G>A r.(?) p.(Asp276Asn) g.1419399G>A Copied from the Exome Variant Server CSF2RA_000088 2/12998 0/8592 2/4406
?/? c.830T>G r.(?) p.(Leu277Trp) g.1419403T>G Copied from the Exome Variant Server CSF2RA_000089 1/12998 0/8592 1/4406
?/? c.867A>G r.(=) p.(=) g.1419440A>G Copied from the Exome Variant Server CSF2RA_000090 1/12998 0/8592 1/4406
?/? c.900C>T r.(=) p.(=) g.1419473C>T Copied from the Exome Variant Server CSF2RA_000091 1/12998 1/8592 0/4406
?/? c.921C>T r.(=) p.(=) g.1419494C>T Copied from the Exome Variant Server CSF2RA_000092 10/12998 1/8592 9/4406
?/? c.938T>A r.(?) p.(Ile313Asn) g.1419511T>A Copied from the Exome Variant Server CSF2RA_000093 1/12998 1/8592 0/4406
?/? c.946+13C>T r.(=) p.(=) g.1419532C>T Copied from the Exome Variant Server CSF2RA_000094 12/12998 0/8592 12/4406
?/? c.946+34C>G r.(=) p.(=) g.1419553C>G Copied from the Exome Variant Server CSF2RA_000095 5/12998 5/8592 0/4406
?/? c.946+36G>A r.(=) p.(=) g.1419555G>A Copied from the Exome Variant Server CSF2RA_000096 1/12998 1/8592 0/4406
?/? c.946+41C>T r.(=) p.(=) g.1419560C>T Copied from the Exome Variant Server CSF2RA_000097 1/12998 1/8592 0/4406
?/? c.946+42G>A r.(=) p.(=) g.1419561G>A Copied from the Exome Variant Server CSF2RA_000098 4/12998 3/8592 1/4406
?/? c.946+52C>G r.(=) p.(=) g.1419571C>G Copied from the Exome Variant Server CSF2RA_000099 4855/7264 2923/4610 1932/2654
?/? c.947-43C>T r.(=) p.(=) g.1422773C>T Copied from the Exome Variant Server CSF2RA_000100 1/12998 1/8592 0/4406
Legend   « First ‹ Prev     1 2     Next › Last »