All transcript variants in gene F3

Information The variants shown are described using the NM_001993.4 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.22C>T r.(?) p.(Arg8Trp) g.95007171G>A Copied from the Exome Variant Server F3_000042 1/12380 0/8254 1/4126
?/? c.23G>A r.(?) p.(Arg8Gln) g.95007170C>T Copied from the Exome Variant Server F3_000040 2/12362 2/8238 0/4124
?/? c.68G>T r.(?) p.(Gly23Val) g.95007125C>A Copied from the Exome Variant Server F3_000038 1/12030 0/8088 1/3942
?/? c.99A>G r.(=) p.(=) g.95007094T>C Copied from the Exome Variant Server F3_000036 10/11138 10/7580 0/3558
?/? c.101-33A>G r.(=) p.(=) g.95005957T>C Copied from the Exome Variant Server F3_000034 1/13006 0/8600 1/4406
?/? c.101-20T>C r.(=) p.(=) g.95005944A>G Copied from the Exome Variant Server F3_000032 3/13006 0/8600 3/4406
?/? c.106A>G r.(?) p.(Thr36Ala) g.95005919T>C Copied from the Exome Variant Server F3_000030 113/13006 0/8600 113/4406
?/? c.118G>A r.(?) p.(Ala40Thr) g.95005907C>T Copied from the Exome Variant Server F3_000028 21/13006 2/8600 19/4406
?/? c.160A>G r.(?) p.(Ile54Val) g.95005865T>C Copied from the Exome Variant Server F3_000026 32/13006 3/8600 29/4406
?/? c.183C>T r.(=) p.(=) g.95005842G>A Copied from the Exome Variant Server F3_000024 1/13006 0/8600 1/4406
?/? c.205C>T r.(?) p.(Gln69*) g.95005820G>A Copied from the Exome Variant Server F3_000022 1/13006 1/8600 0/4406
?/? c.212+21del r.(=) p.(=) g.95005792del Copied from the Exome Variant Server F3_000047 1/12518 1/8254 0/4264
?/? c.212+29A>G r.(=) p.(=) g.95005784T>C Copied from the Exome Variant Server F3_000046 5/13004 0/8600 5/4404
?/? c.212+31G>T r.(=) p.(=) g.95005782C>A Copied from the Exome Variant Server F3_000045 1/13004 0/8600 1/4404
?/? c.213-38C>T r.(=) p.(=) g.95001758G>A Copied from the Exome Variant Server F3_000044 1/13006 1/8600 0/4406
?/? c.278A>G r.(?) p.(Asp93Gly) g.95001655T>C Copied from the Exome Variant Server F3_000043 79/13006 1/8600 78/4406
?/? c.321C>A r.(=) p.(=) g.95001612G>T Copied from the Exome Variant Server F3_000041 1/13006 0/8600 1/4406
?/? c.333T>G N/A N/A g.95001600A>C Copied from the Exome Variant Server F3_000039 12794/13006 8600/8600 4194/4406
?/? c.365G>A r.(?) p.(Gly122Glu) g.95001568C>T Copied from the Exome Variant Server F3_000037 1/13006 0/8600 1/4406
?/? c.374T>A r.(?) p.(Leu125Gln) g.95001559A>T Copied from the Exome Variant Server F3_000035 1/13006 1/8600 0/4406
?/? c.412+8G>A r.(=) p.(=) g.95001513C>T Copied from the Exome Variant Server F3_000033 1/13006 0/8600 1/4406
?/? c.447A>T r.(?) p.(Glu149Asp) g.94998790T>A Copied from the Exome Variant Server F3_000031 1/13006 1/8600 0/4406
?/? c.487C>T r.(?) p.(Arg163Trp) g.94998750G>A Copied from the Exome Variant Server F3_000029 13/13006 7/8600 6/4406
?/? c.516C>A r.(?) p.(Phe172Leu) g.94998721G>T Copied from the Exome Variant Server F3_000027 1/13006 1/8600 0/4406
?/? c.522C>G r.(?) p.(Ser174Arg) g.94998715G>C Copied from the Exome Variant Server F3_000025 1/13006 0/8600 1/4406
?/? c.591+28A>T r.(=) p.(=) g.94998618T>A Copied from the Exome Variant Server F3_000023 1/13004 1/8598 0/4406
?/? c.591+30C>G r.(=) p.(=) g.94998616G>C Copied from the Exome Variant Server F3_000021 3/13004 3/8598 0/4406
?/? c.592-29G>A r.(=) p.(=) g.94998065C>T Copied from the Exome Variant Server F3_000020 1/13004 0/8598 1/4406
?/? c.592-17A>G r.(=) p.(=) g.94998053T>C Copied from the Exome Variant Server F3_000019 1/13004 0/8598 1/4406
?/? c.592-2A>G r.spl? p.? g.94998038T>C Copied from the Exome Variant Server F3_000018 1/13004 0/8598 1/4406
?/? c.642A>G r.(=) p.(=) g.94997986T>C Copied from the Exome Variant Server F3_000017 1/13006 0/8600 1/4406
?/? c.694C>T r.(?) p.(Arg232Trp) g.94997934G>A Copied from the Exome Variant Server F3_000016 3/13006 0/8600 3/4406
?/? c.714G>A r.(=) p.(=) g.94997914C>T Copied from the Exome Variant Server F3_000015 1/13006 0/8600 1/4406
?/? c.751+15C>G r.(=) p.(=) g.94997862G>C Copied from the Exome Variant Server F3_000014 1/13006 1/8600 0/4406
?/? c.751+32_751+33insG r.(=) p.(=) g.94997844_94997845insC Copied from the Exome Variant Server F3_000013 82/12520 73/8254 9/4266
?/? c.751+47del r.(=) p.(=) g.94997830del Copied from the Exome Variant Server F3_000012 1/12520 0/8254 1/4266
?/? c.752-26T>A r.(=) p.(=) g.94996178A>T Copied from the Exome Variant Server F3_000011 7/12996 0/8600 7/4396
?/? c.752-26_752-19del r.(=) p.(=) g.94996171_94996178del Copied from the Exome Variant Server F3_000010 291/12520 6/8254 285/4266
?/? c.792C>G r.(?) p.(Ile264Met) g.94996112G>C Copied from the Exome Variant Server F3_000009 1/13006 1/8600 0/4406
?/? c.830G>A r.(?) p.(Cys277Tyr) g.94996074C>T Copied from the Exome Variant Server F3_000008 1/13006 1/8600 0/4406
?/? c.842G>A r.(?) p.(Gly281Glu) g.94996062C>T Copied from the Exome Variant Server F3_000007 114/13006 21/8600 93/4406
?/? c.846G>T r.(=) p.(=) g.94996058C>A Copied from the Exome Variant Server F3_000006 2/13006 0/8600 2/4406
?/? c.870C>T r.(=) p.(=) g.94996034G>A Copied from the Exome Variant Server F3_000005 1/13006 1/8600 0/4406
?/? c.871C>T r.(?) p.(Pro291Ser) g.94996033G>A Copied from the Exome Variant Server F3_000004 7/13006 7/8600 0/4406
?/? c.*9C>T r.(=) p.(=) g.94996007G>A Copied from the Exome Variant Server F3_000003 1/13006 0/8600 1/4406
?/? c.*47C>T r.(=) p.(=) g.94995969G>A Copied from the Exome Variant Server F3_000002 1/13006 1/8600 0/4406
?/? c.*48G>A r.(=) p.(=) g.94995968C>T Copied from the Exome Variant Server F3_000001 1/13006 0/8600 1/4406
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