Full data view for gene NCOA5

Information The variants shown are described using the NM_020967.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-29A>G r.(=) p.(=) g.44708092T>C Copied from the Exome Variant Server NCOA5_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.23C>T r.(?) p.(Pro8Leu) g.44708041G>A Copied from the Exome Variant Server NCOA5_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.39-31del r.(=) p.(=) g.44699206del Copied from the Exome Variant Server NCOA5_000079 2/12516 1/8254 1/4262 - - - - - - -
?/? c.39-14G>C r.(=) p.(=) g.44699189C>G Copied from the Exome Variant Server NCOA5_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.39G>T r.(?) p.(Arg13Ser) g.44699175C>A Copied from the Exome Variant Server NCOA5_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.77G>A r.(?) p.(Arg26His) g.44699137C>T Copied from the Exome Variant Server NCOA5_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.82C>T r.(?) p.(Arg28*) g.44699132G>A Copied from the Exome Variant Server NCOA5_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.146G>A r.(?) p.(Arg49Gln) g.44699068C>T Copied from the Exome Variant Server NCOA5_000074 2/13006 0/8600 2/4406 - - - - - - -
?/? c.147G>A r.(=) p.(=) g.44699067C>T Copied from the Exome Variant Server NCOA5_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.151A>G r.(?) p.(Ser51Gly) g.44699063T>C Copied from the Exome Variant Server NCOA5_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.44698977G>A Copied from the Exome Variant Server NCOA5_000071 13/13006 1/8600 12/4406 - - - - - - -
?/? c.244C>T r.(?) p.(Arg82Trp) g.44698970G>A Copied from the Exome Variant Server NCOA5_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.245G>A r.(?) p.(Arg82Gln) g.44698969C>T Copied from the Exome Variant Server NCOA5_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.249C>T r.(=) p.(=) g.44698965G>A Copied from the Exome Variant Server NCOA5_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.267C>T r.(=) p.(=) g.44698947G>A Copied from the Exome Variant Server NCOA5_000067 2/13006 0/8600 2/4406 - - - - - - -
?/? c.271C>G r.(?) p.(Arg91Gly) g.44698943G>C Copied from the Exome Variant Server NCOA5_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.273T>C r.(=) p.(=) g.44698941A>G Copied from the Exome Variant Server NCOA5_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.316A>G r.(?) p.(Met106Val) g.44698898T>C Copied from the Exome Variant Server NCOA5_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.321C>T r.(=) p.(=) g.44698893G>A Copied from the Exome Variant Server NCOA5_000063 916/13006 2/8600 914/4406 - - - - - - -
?/? c.364A>G r.(?) p.(Arg122Gly) g.44698850T>C Copied from the Exome Variant Server NCOA5_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.365+9G>A r.(=) p.(=) g.44698840C>T Copied from the Exome Variant Server NCOA5_000061 5/13006 5/8600 0/4406 - - - - - - -
?/? c.366-10A>G r.(=) p.(=) g.44697287T>C Copied from the Exome Variant Server NCOA5_000060 22/13006 0/8600 22/4406 - - - - - - -
?/? c.407A>C r.(?) p.(Tyr136Ser) g.44697236T>G Copied from the Exome Variant Server NCOA5_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.422A>T r.(?) p.(Asp141Val) g.44697221T>A Copied from the Exome Variant Server NCOA5_000058 2/13006 0/8600 2/4406 - - - - - - -
?/? c.424G>A r.(?) p.(Asp142Asn) g.44697219C>T Copied from the Exome Variant Server NCOA5_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.502+43C>T r.(=) p.(=) g.44697098G>A Copied from the Exome Variant Server NCOA5_000056 3/13006 2/8600 1/4406 - - - - - - -
?/? c.503-17C>G r.(=) p.(=) g.44695837G>C Copied from the Exome Variant Server NCOA5_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.506G>A r.(?) p.(Arg169His) g.44695817C>T Copied from the Exome Variant Server NCOA5_000054 12/13006 0/8600 12/4406 - - - - - - -
?/? c.526C>T r.(?) p.(Arg176Cys) g.44695797G>A Copied from the Exome Variant Server NCOA5_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.549A>G r.(=) p.(=) g.44695774T>C Copied from the Exome Variant Server NCOA5_000052 3/13006 0/8600 3/4406 - - - - - - -
?/? c.571C>T r.(?) p.(Arg191Cys) g.44695752G>A Copied from the Exome Variant Server NCOA5_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.629+33_629+35del r.(=) p.(=) g.44695659_44695661del Copied from the Exome Variant Server NCOA5_000050 15/12518 10/8254 5/4264 - - - - - - -
?/? c.630-33G>A r.(=) p.(=) g.44693900C>T Copied from the Exome Variant Server NCOA5_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.630-30C>T r.(=) p.(=) g.44693897G>A Copied from the Exome Variant Server NCOA5_000048 2187/13006 1531/8600 656/4406 - - - - - - -
?/? c.630-19A>T r.(=) p.(=) g.44693886T>A Copied from the Exome Variant Server NCOA5_000047 15/13006 14/8600 1/4406 - - - - - - -
?/? c.667C>T r.(=) p.(=) g.44693830G>A Copied from the Exome Variant Server NCOA5_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.669G>A r.(=) p.(=) g.44693828C>T Copied from the Exome Variant Server NCOA5_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.702A>T r.(=) p.(=) g.44693795T>A Copied from the Exome Variant Server NCOA5_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.729G>A r.(=) p.(=) g.44693768C>T Copied from the Exome Variant Server NCOA5_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.760A>G r.(?) p.(Ile254Val) g.44693737T>C Copied from the Exome Variant Server NCOA5_000042 2/13006 1/8600 1/4406 - - - - - - -
?/? c.765C>T r.(=) p.(=) g.44693732G>A Copied from the Exome Variant Server NCOA5_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.791G>A r.(?) p.(Arg264His) g.44693706C>T Copied from the Exome Variant Server NCOA5_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.812T>C r.(?) p.(Met271Thr) g.44693685A>G Copied from the Exome Variant Server NCOA5_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.829+22G>A r.(=) p.(=) g.44693646C>T Copied from the Exome Variant Server NCOA5_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.829+23G>A r.(=) p.(=) g.44693645C>T Copied from the Exome Variant Server NCOA5_000037 3/13006 3/8600 0/4406 - - - - - - -
?/? c.830-38T>C r.(=) p.(=) g.44692357A>G Copied from the Exome Variant Server NCOA5_000036 1/13004 1/8600 0/4404 - - - - - - -
?/? c.830-15C>A r.(=) p.(=) g.44692334G>T Copied from the Exome Variant Server NCOA5_000035 1/13004 1/8598 0/4406 - - - - - - -
?/? c.841A>G r.(?) p.(Met281Val) g.44692308T>C Copied from the Exome Variant Server NCOA5_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.928G>A r.(?) p.(Ala310Thr) g.44692221C>T Copied from the Exome Variant Server NCOA5_000033 3/13006 0/8600 3/4406 - - - - - - -
?/? c.947T>C r.(?) p.(Met316Thr) g.44692202A>G Copied from the Exome Variant Server NCOA5_000032 38/13006 34/8600 4/4406 - - - - - - -
?/? c.951C>T r.(=) p.(=) g.44692198G>A Copied from the Exome Variant Server NCOA5_000031 8/13006 0/8600 8/4406 - - - - - - -
?/? c.954T>C r.(=) p.(=) g.44692195A>G Copied from the Exome Variant Server NCOA5_000030 2/13006 2/8600 0/4406 - - - - - - -
?/? c.979A>C r.(=) p.(=) g.44692170T>G Copied from the Exome Variant Server NCOA5_000029 388/13006 2/8600 386/4406 - - - - - - -
?/? c.1004G>A r.(?) p.(Arg335His) g.44692145C>T Copied from the Exome Variant Server NCOA5_000028 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1015C>T r.(?) p.(Pro339Ser) g.44692134G>A Copied from the Exome Variant Server NCOA5_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1083C>G r.(?) p.(Asp361Glu) g.44692066G>C Copied from the Exome Variant Server NCOA5_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1123A>T r.(?) p.(Met375Leu) g.44692026T>A Copied from the Exome Variant Server NCOA5_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1150+10G>C r.(=) p.(=) g.44691989C>G Copied from the Exome Variant Server NCOA5_000024 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1150+20C>T r.(=) p.(=) g.44691979G>A Copied from the Exome Variant Server NCOA5_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1151-40G>A r.(=) p.(=) g.44691568C>T Copied from the Exome Variant Server NCOA5_000022 3/12130 0/7998 3/4132 - - - - - - -
?/? c.1173C>T r.(=) p.(=) g.44691506G>A Copied from the Exome Variant Server NCOA5_000021 1/12932 1/8548 0/4384 - - - - - - -
?/? c.1174G>A r.(?) p.(Gly392Arg) g.44691505C>T Copied from the Exome Variant Server NCOA5_000020 1/12970 0/8574 1/4396 - - - - - - -
?/? c.1176G>A r.(=) p.(=) g.44691503C>T Copied from the Exome Variant Server NCOA5_000019 1/12978 1/8578 0/4400 - - - - - - -
?/? c.1179G>A r.(=) p.(=) g.44691500C>T Copied from the Exome Variant Server NCOA5_000018 1/12992 0/8592 1/4400 - - - - - - -
?/? c.1220C>T r.(?) p.(Pro407Leu) g.44691459G>A Copied from the Exome Variant Server NCOA5_000017 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1231G>A r.(?) p.(Gly411Ser) g.44691448C>T Copied from the Exome Variant Server NCOA5_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1258A>G r.(?) p.(Thr420Ala) g.44691421T>C Copied from the Exome Variant Server NCOA5_000015 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1319A>G r.(?) p.(Asn440Ser) g.44691360T>C Copied from the Exome Variant Server NCOA5_000014 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1329A>C r.(=) p.(=) g.44691350T>G Copied from the Exome Variant Server NCOA5_000013 3915/13006 2790/8600 1125/4406 - - - - - - -
?/? c.1341T>C r.(=) p.(=) g.44691338A>G Copied from the Exome Variant Server NCOA5_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1361C>T r.(?) p.(Ser454Leu) g.44691318G>A Copied from the Exome Variant Server NCOA5_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1366G>C r.(?) p.(Ala456Pro) g.44691313C>G Copied from the Exome Variant Server NCOA5_000010 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1419T>G r.(=) p.(=) g.44691260A>C Copied from the Exome Variant Server NCOA5_000009 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1442G>A r.(?) p.(Gly481Asp) g.44691237C>T Copied from the Exome Variant Server NCOA5_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1445A>G r.(?) p.(Asn482Ser) g.44691234T>C Copied from the Exome Variant Server NCOA5_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1545C>T r.(=) p.(=) g.44691134G>A Copied from the Exome Variant Server NCOA5_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1568C>G r.(?) p.(Thr523Ser) g.44691111G>C Copied from the Exome Variant Server NCOA5_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1598T>G r.(?) p.(Ile533Ser) g.44691081A>C Copied from the Exome Variant Server NCOA5_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1715T>C r.(?) p.(Met572Thr) g.44690964A>G Copied from the Exome Variant Server NCOA5_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1719A>G r.(=) p.(=) g.44690960T>C Copied from the Exome Variant Server NCOA5_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1727A>T r.(?) p.(Gln576Leu) g.44690952T>A Copied from the Exome Variant Server NCOA5_000001 1/13006 0/8600 1/4406 - - - - - - -
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