All transcript variants in gene S100A1

Information The variants shown are described using the NM_006271.1 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-13-12G>A r.(=) p.(=) g.153602973G>A Copied from the Exome Variant Server S100A13_000019 2/13006 2/8600 0/4406
?/? c.-13-5G>T r.(=) p.(=) g.153602980G>T Copied from the Exome Variant Server S100A13_000020 3/13006 3/8600 0/4406
?/? c.-12T>C r.(=) p.(=) g.153602986T>C Copied from the Exome Variant Server S100A13_000021 1/13006 1/8600 0/4406
?/? c.19A>T r.(?) p.(Thr7Ser) g.153603016A>T Copied from the Exome Variant Server S100A13_000022 1/13006 1/8600 0/4406
?/? c.20C>T r.(?) p.(Thr7Met) g.153603017C>T Copied from the Exome Variant Server S100A13_000023 2/13006 0/8600 2/4406
?/? c.21G>A r.(=) p.(=) g.153603018G>A Copied from the Exome Variant Server S100A13_000024 2/13006 1/8600 1/4406
?/? c.43G>A r.(?) p.(Val15Met) g.153603040G>A Copied from the Exome Variant Server S100A13_000025 1/13006 1/8600 0/4406
?/? c.46T>C r.(?) p.(Phe16Leu) g.153603043T>C Copied from the Exome Variant Server S100A13_000026 1/13006 0/8600 1/4406
?/? c.60G>A r.(=) p.(=) g.153603057G>A Copied from the Exome Variant Server S100A13_000027 16/13006 0/8600 16/4406
?/? c.106G>A r.(?) p.(Glu36Lys) g.153603103G>A Copied from the Exome Variant Server S100A13_000028 1/13006 0/8600 1/4406
?/? c.119C>T r.(?) p.(Thr40Met) g.153603116C>T Copied from the Exome Variant Server S100A13_000029 1/13006 0/8600 1/4406
?/? c.120G>A r.(=) p.(=) g.153603117G>A Copied from the Exome Variant Server S100A13_000030 1/13006 1/8600 0/4406
?/? c.141+8T>C r.(=) p.(=) g.153603146T>C Copied from the Exome Variant Server S100A13_000031 3/13006 3/8600 0/4406
?/? c.141+9A>G r.(=) p.(=) g.153603147A>G Copied from the Exome Variant Server S100A13_000032 1/13006 0/8600 1/4406
?/? c.141+41G>A r.(=) p.(=) g.153603179G>A Copied from the Exome Variant Server S100A13_000033 1/13006 0/8600 1/4406
?/? c.141+45G>A r.(=) p.(=) g.153603183G>A Copied from the Exome Variant Server S100A13_000034 1/13006 1/8600 0/4406
?/? c.171G>A r.(=) p.(=) g.153604203G>A Copied from the Exome Variant Server S100A13_000035 2/13006 0/8600 2/4406
?/? c.201C>T r.(=) p.(=) g.153604233C>T Copied from the Exome Variant Server S100A13_000036 1/13006 1/8600 0/4406
?/? c.202G>A r.(?) p.(Gly68Arg) g.153604234G>A Copied from the Exome Variant Server S100A13_000037 1/13006 1/8600 0/4406
?/? c.213C>T r.(=) p.(=) g.153604245C>T Copied from the Exome Variant Server S100A13_000038 1/13006 1/8600 0/4406
?/? c.275_277del r.(?) p.(Glu92_Asn93delinsAsp) g.153604307_153604309del Copied from the Exome Variant Server S100A13_000039 1/12500 1/8236 0/4264
?/? c.*6C>G r.(=) p.(=) g.153604323C>G Copied from the Exome Variant Server S100A13_000040 1/13006 1/8600 0/4406
?/? c.*22C>T r.(=) p.(=) g.153604339C>T Copied from the Exome Variant Server S100A13_000041 1/13006 0/8600 1/4406
?/? c.*23G>A r.(=) p.(=) g.153604340G>A Copied from the Exome Variant Server S100A13_000042 136/13006 4/8600 132/4406
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