Full data view for gene CDC20

Information The variants shown are described using the NM_001255.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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.-22C>T r.(=) p.(=) g.43824865C>T Copied from the Exome Variant Server CDC20_000001 705/13002 283/8600 422/4402 - - - - - - -
?/? c.28C>T r.(=) p.(=) g.43824914C>T Copied from the Exome Variant Server CDC20_000002 7/13006 5/8600 2/4406 - - - - - - -
?/? c.111_116del r.(?) p.(Ala39_Pro40del) g.43824997_43825002del Copied from the Exome Variant Server CDC20_000003 2/12454 0/8212 2/4242 - - - - - - -
?/? c.120C>T r.(=) p.(=) g.43825006C>T Copied from the Exome Variant Server CDC20_000004 1/12988 1/8588 0/4400 - - - - - - -
?/? c.169G>C r.(?) p.(Gly57Arg) g.43825055G>C Copied from the Exome Variant Server CDC20_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.181+44C>T r.(=) p.(=) g.43825111C>T Copied from the Exome Variant Server CDC20_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.182-44C>G r.(=) p.(=) g.43825117C>G Copied from the Exome Variant Server CDC20_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.182-34C>T r.(=) p.(=) g.43825127C>T Copied from the Exome Variant Server CDC20_000008 41/13006 0/8600 41/4406 - - - - - - -
?/? c.182-29T>A r.(=) p.(=) g.43825132T>A Copied from the Exome Variant Server CDC20_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.189C>A r.(=) p.(=) g.43825168C>A Copied from the Exome Variant Server CDC20_000010 3/13006 1/8600 2/4406 - - - - - - -
?/? c.304G>C r.(?) p.(Glu102Gln) g.43825283G>C Copied from the Exome Variant Server CDC20_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.327G>A r.(=) p.(=) g.43825306G>A Copied from the Exome Variant Server CDC20_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.330+28C>T r.(=) p.(=) g.43825337C>T Copied from the Exome Variant Server CDC20_000013 5/13006 3/8600 2/4406 - - - - - - -
?/? c.330+38C>T r.(=) p.(=) g.43825347C>T Copied from the Exome Variant Server CDC20_000014 3/13006 0/8600 3/4406 - - - - - - -
?/? c.330+39T>C r.(=) p.(=) g.43825348T>C Copied from the Exome Variant Server CDC20_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.331-24C>T r.(=) p.(=) g.43825372C>T Copied from the Exome Variant Server CDC20_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.331-13C>T r.(=) p.(=) g.43825383C>T Copied from the Exome Variant Server CDC20_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354G>A r.(=) p.(=) g.43825419G>A Copied from the Exome Variant Server CDC20_000022 60/13006 0/8600 60/4406 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.43825422C>T Copied from the Exome Variant Server CDC20_000024 8/13006 0/8600 8/4406 - - - - - - -
?/? c.419C>T r.(?) p.(Ala140Val) g.43825484C>T Copied from the Exome Variant Server CDC20_000026 3/13006 0/8600 3/4406 - - - - - - -
?/? c.424G>A r.(?) p.(Glu142Lys) g.43825489G>A Copied from the Exome Variant Server CDC20_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.427+6A>G r.(=) p.(=) g.43825498A>G Copied from the Exome Variant Server CDC20_000031 3/13006 3/8600 0/4406 - - - - - - -
?/? c.427+13G>A r.(=) p.(=) g.43825505G>A Copied from the Exome Variant Server CDC20_000033 2/13006 2/8600 0/4406 - - - - - - -
?/? c.427+16C>T r.(=) p.(=) g.43825508C>T Copied from the Exome Variant Server CDC20_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428-30C>A r.(=) p.(=) g.43825610C>A Copied from the Exome Variant Server CDC20_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.432T>C r.(=) p.(=) g.43825644T>C Copied from the Exome Variant Server CDC20_000019 4530/13006 3288/8600 1242/4406 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.43825689C>T Copied from the Exome Variant Server CDC20_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507T>A r.(=) p.(=) g.43825719T>A Copied from the Exome Variant Server CDC20_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.517G>C r.(?) p.(Asp173His) g.43825729G>C Copied from the Exome Variant Server CDC20_000025 2/13006 2/8600 0/4406 - - - - - - -
?/? c.556+21G>A r.(=) p.(=) g.43825789G>A Copied from the Exome Variant Server CDC20_000027 74/13006 1/8600 73/4406 - - - - - - -
?/? c.556+25C>T r.(=) p.(=) g.43825793C>T Copied from the Exome Variant Server CDC20_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.556+38A>T r.(=) p.(=) g.43825806A>T Copied from the Exome Variant Server CDC20_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.557-24T>A r.(=) p.(=) g.43825840T>A Copied from the Exome Variant Server CDC20_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.609C>T r.(=) p.(=) g.43825916C>T Copied from the Exome Variant Server CDC20_000034 4/13006 0/8600 4/4406 - - - - - - -
?/? c.753+7C>T r.(=) p.(=) g.43826067C>T Copied from the Exome Variant Server CDC20_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.753+8G>A r.(=) p.(=) g.43826068G>A Copied from the Exome Variant Server CDC20_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.753+39A>G r.(=) p.(=) g.43826099A>G Copied from the Exome Variant Server CDC20_000037 648/13006 582/8600 66/4406 - - - - - - -
?/? c.754-51G>A r.(=) p.(=) g.43826119G>A Copied from the Exome Variant Server CDC20_000038 47/13006 0/8600 47/4406 - - - - - - -
?/? c.754-48A>G r.(=) p.(=) g.43826122A>G Copied from the Exome Variant Server CDC20_000039 39/13006 36/8600 3/4406 - - - - - - -
?/? c.754-7T>G r.(=) p.(=) g.43826163T>G Copied from the Exome Variant Server CDC20_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.795_798del r.(?) p.(Ser266Thrfs*8) g.43826211_43826214del Copied from the Exome Variant Server CDC20_000041 1/12490 1/8236 0/4254 - - - - - - -
?/? c.813G>A r.(=) p.(=) g.43826229G>A Copied from the Exome Variant Server CDC20_000042 10/13006 10/8600 0/4406 - - - - - - -
?/? c.848+35A>G r.(=) p.(=) g.43826299A>G Copied from the Exome Variant Server CDC20_000043 33/13006 0/8600 33/4406 - - - - - - -
?/? c.848+48C>A r.(=) p.(=) g.43826312C>A Copied from the Exome Variant Server CDC20_000044 8641/13006 5661/8600 2980/4406 - - - - - - -
?/? c.964C>T r.(?) p.(Arg322*) g.43826519C>T Copied from the Exome Variant Server CDC20_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.965G>A r.(?) p.(Arg322Gln) g.43826520G>A Copied from the Exome Variant Server CDC20_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1013G>A r.(?) p.(Ser338Asn) g.43826568G>A Copied from the Exome Variant Server CDC20_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1029T>C r.(=) p.(=) g.43826584T>C Copied from the Exome Variant Server CDC20_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1044G>A r.(=) p.(=) g.43826599G>A Copied from the Exome Variant Server CDC20_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1058A>C r.(?) p.(Gln353Pro) g.43826613A>C Copied from the Exome Variant Server CDC20_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1077+30G>A r.(=) p.(=) g.43826662G>A Copied from the Exome Variant Server CDC20_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1077+34C>T r.(=) p.(=) g.43826666C>T Copied from the Exome Variant Server CDC20_000052 20/13006 0/8600 20/4406 - - - - - - -
?/? c.1078-18C>T r.(=) p.(=) g.43826773C>T Copied from the Exome Variant Server CDC20_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1078-10T>A r.(=) p.(=) g.43826781T>A Copied from the Exome Variant Server CDC20_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1081G>A r.(?) p.(Val361Ile) g.43826794G>A Copied from the Exome Variant Server CDC20_000055 81/13006 72/8600 9/4406 - - - - - - -
?/? c.1121_1122insA r.(?) p.(Gly375Argfs*5) g.43826834_43826835insA Copied from the Exome Variant Server CDC20_000056 1/12506 0/8244 1/4262 - - - - - - -
?/? c.1180A>G r.(?) p.(Ser394Gly) g.43826893A>G Copied from the Exome Variant Server CDC20_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1185C>T r.(=) p.(=) g.43826898C>T Copied from the Exome Variant Server CDC20_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1186G>C r.(?) p.(Val396Leu) g.43826899G>C Copied from the Exome Variant Server CDC20_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1197T>C r.(=) p.(=) g.43826910T>C Copied from the Exome Variant Server CDC20_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1203+28C>T r.(=) p.(=) g.43826944C>T Copied from the Exome Variant Server CDC20_000061 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1204-33A>G r.(=) p.(=) g.43827833A>G Copied from the Exome Variant Server CDC20_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1204-19C>T r.(=) p.(=) g.43827847C>T Copied from the Exome Variant Server CDC20_000065 34/13006 0/8600 34/4406 - - - - - - -
?/? c.1263A>C r.(=) p.(=) g.43827925A>C Copied from the Exome Variant Server CDC20_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1321+22C>T r.(=) p.(=) g.43828005C>T Copied from the Exome Variant Server CDC20_000069 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1321+28T>C r.(=) p.(=) g.43828011T>C Copied from the Exome Variant Server CDC20_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1351A>G r.(?) p.(Met451Val) g.43828651A>G Copied from the Exome Variant Server CDC20_000073 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1434G>A r.(=) p.(=) g.43828734G>A Copied from the Exome Variant Server CDC20_000075 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1436G>A r.(?) p.(Arg479Gln) g.43828736G>A Copied from the Exome Variant Server CDC20_000076 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1447C>T r.(?) p.(Arg483Trp) g.43828747C>T Copied from the Exome Variant Server CDC20_000077 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1448G>A r.(?) p.(Arg483Gln) g.43828748G>A Copied from the Exome Variant Server CDC20_000078 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1449_1451del r.(?) p.(Glu484del) g.43828749_43828751del Copied from the Exome Variant Server CDC20_000079 2/12520 0/8254 2/4266 - - - - - - -
?/? c.1450G>A r.(?) p.(Glu484Lys) g.43828750G>A Copied from the Exome Variant Server CDC20_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1452G>A r.(=) p.(=) g.43828752G>A Copied from the Exome Variant Server CDC20_000062 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1461T>G r.(?) p.(Ser487Arg) g.43828761T>G Copied from the Exome Variant Server CDC20_000064 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1477C>A r.(?) p.(Leu493Ile) g.43828777C>A Copied from the Exome Variant Server CDC20_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1495C>T r.(?) p.(Arg499Cys) g.43828795C>T Copied from the Exome Variant Server CDC20_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*20_*22del r.(=) p.(=) g.43828820_43828822del Copied from the Exome Variant Server CDC20_000070 2/12520 0/8254 2/4266 - - - - - - -
?/? c.*33T>C r.(=) p.(=) g.43828833T>C Copied from the Exome Variant Server CDC20_000072 1/13004 0/8600 1/4404 - - - - - - -
?/? c.*38A>G r.(=) p.(=) g.43828838A>G Copied from the Exome Variant Server CDC20_000074 1/13004 0/8600 1/4404 - - - - - - -
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