All transcript variants in gene PRPS1

Information The variants shown are described using the NM_001204402.1 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-240G>A r.(=) p.(=) g.106871823G>A Copied from the Exome Variant Server PRPS1_000001 1/10563 0/6728 1/3835
?/? c.-83+24A>G r.(=) p.(=) g.106872004A>G Copied from the Exome Variant Server PRPS1_000002 1/10563 1/6728 0/3835
?/? c.-83+37T>G r.(=) p.(=) g.106872017T>G Copied from the Exome Variant Server PRPS1_000003 3/10562 2/6727 1/3835
?/? c.-82-5929T>C r.(=) p.(=) g.106882478T>C Copied from the Exome Variant Server PRPS1_000004 1/10563 1/6728 0/3835
?/? c.-82-5918A>G r.(=) p.(=) g.106882489A>G Copied from the Exome Variant Server PRPS1_000005 9/10563 8/6728 1/3835
?/? c.-82-5912T>G r.(=) p.(=) g.106882495T>G Copied from the Exome Variant Server PRPS1_000006 2/10563 2/6728 0/3835
?/? c.-82-5901_-82-5900insT r.(=) p.(=) g.106882506_106882507insT Copied from the Exome Variant Server PRPS1_000007 2/10205 2/6484 0/3721
?/? c.-82-5828T>A r.(=) p.(=) g.106882579T>A Copied from the Exome Variant Server PRPS1_000008 1/10563 1/6728 0/3835
?/? c.-82-5822C>T r.(=) p.(=) g.106882585C>T Copied from the Exome Variant Server PRPS1_000009 2/10563 1/6728 1/3835
?/? c.-82-4326T>A r.(=) p.(=) g.106884081T>A Copied from the Exome Variant Server PRPS1_000010 1/10561 0/6726 1/3835
?/? c.-82-4312del r.(=) p.(=) g.106884095del Copied from the Exome Variant Server PRPS1_000011 7/10204 3/6483 4/3721
?/? c.-82-4302T>C r.(=) p.(=) g.106884105T>C Copied from the Exome Variant Server PRPS1_000012 1/10563 1/6728 0/3835
?/? c.-82-2857G>A r.(=) p.(=) g.106885550G>A Copied from the Exome Variant Server PRPS1_000013 1/10563 0/6728 1/3835
?/? c.-82-2848G>A r.(=) p.(=) g.106885559G>A Copied from the Exome Variant Server PRPS1_000014 1/10563 0/6728 1/3835
?/? c.-82-2797C>T r.(=) p.(=) g.106885610C>T Copied from the Exome Variant Server PRPS1_000015 1/10563 1/6728 0/3835
?/? c.-82-2761A>G r.(=) p.(=) g.106885646A>G Copied from the Exome Variant Server PRPS1_000016 119/10563 1/6728 118/3835
?/? c.-82-2740C>T r.(=) p.(=) g.106885667C>T Copied from the Exome Variant Server PRPS1_000017 63/10563 56/6728 7/3835
?/? c.-82-2672A>T r.(=) p.(=) g.106885735A>T Copied from the Exome Variant Server PRPS1_000018 1/10563 1/6728 0/3835
?/? c.-82-2669A>G r.(=) p.(=) g.106885738A>G Copied from the Exome Variant Server PRPS1_000019 1/10563 0/6728 1/3835
?/? c.-82-21T>C r.(=) p.(=) g.106888386T>C Copied from the Exome Variant Server PRPS1_000020 3/10563 3/6728 0/3835
?/? c.-19G>A r.(=) p.(=) g.106888470G>A Copied from the Exome Variant Server PRPS1_000021 1/10563 1/6728 0/3835
?/? c.92+24G>A r.(=) p.(=) g.106888604G>A Copied from the Exome Variant Server PRPS1_000022 1/10563 1/6728 0/3835
?/? c.93-11T>C r.(=) p.(=) g.106890825T>C Copied from the Exome Variant Server PRPS1_000023 3/10563 0/6728 3/3835
?/? c.93-6C>T r.(=) p.(=) g.106890830C>T Copied from the Exome Variant Server PRPS1_000024 1/10563 1/6728 0/3835
?/? c.252+41T>A r.(=) p.(=) g.106891036T>A Copied from the Exome Variant Server PRPS1_000025 8/10563 0/6728 8/3835
?/? c.253-36A>G r.(=) p.(=) g.106893134A>G Copied from the Exome Variant Server PRPS1_000026 1/10563 1/6728 0/3835
?/? c.330C>T r.(=) p.(=) g.106893247C>T Copied from the Exome Variant Server PRPS1_000027 5/10563 3/6728 2/3835
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