Full data view for gene RCHY1

Information The variants shown are described using the NM_015436.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-35G>C r.(=) p.(=) g.76439531C>G Copied from the Exome Variant Server RCHY1_000046 3/13006 2/8600 1/4406 - - - - - - -
?/? c.-4G>A r.(=) p.(=) g.76439500C>T Copied from the Exome Variant Server RCHY1_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-1G>A r.(=) p.(=) g.76439497C>T Copied from the Exome Variant Server RCHY1_000044 28/13006 0/8600 28/4406 - - - - - - -
?/? c.12G>A r.(=) p.(=) g.76439485C>T Copied from the Exome Variant Server RCHY1_000043 130/13006 118/8600 12/4406 - - - - - - -
?/? c.26G>A r.(?) p.(Gly9Asp) g.76439471C>T Copied from the Exome Variant Server RCHY1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.32G>A r.(?) p.(Ser11Asn) g.76439465C>T Copied from the Exome Variant Server RCHY1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.33C>G r.(?) p.(Ser11Arg) g.76439464G>C Copied from the Exome Variant Server RCHY1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.35G>A r.(?) p.(Gly12Asp) g.76439462C>T Copied from the Exome Variant Server RCHY1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.50A>G r.(?) p.(Gln17Arg) g.76439447T>C Copied from the Exome Variant Server RCHY1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90+10T>C r.(=) p.(=) g.76439397A>G Copied from the Exome Variant Server RCHY1_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90+19T>G r.(=) p.(=) g.76439388A>C Copied from the Exome Variant Server RCHY1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90+25C>G r.(=) p.(=) g.76439382G>C Copied from the Exome Variant Server RCHY1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.90+30A>G r.(=) p.(=) g.76439377T>C Copied from the Exome Variant Server RCHY1_000034 4/13006 3/8600 1/4406 - - - - - - -
?/? c.90+32G>A r.(=) p.(=) g.76439375C>T Copied from the Exome Variant Server RCHY1_000033 6/13006 6/8600 0/4406 - - - - - - -
?/? c.126G>A r.(=) p.(=) g.76434471C>T Copied from the Exome Variant Server RCHY1_000032 2/13004 2/8598 0/4406 - - - - - - -
?/? c.160C>T r.(?) p.(Arg54Cys) g.76434437G>A Copied from the Exome Variant Server RCHY1_000031 1/13004 0/8598 1/4406 - - - - - - -
?/? c.161G>A r.(?) p.(Arg54His) g.76434436C>T Copied from the Exome Variant Server RCHY1_000030 1/13004 1/8598 0/4406 - - - - - - -
?/? c.210+35A>T r.(=) p.(=) g.76434352T>A Copied from the Exome Variant Server RCHY1_000028 2857/12968 1802/8578 1055/4390 - - - - - - -
?/? c.211-15A>G r.(=) p.(=) g.76434160T>C Copied from the Exome Variant Server RCHY1_000026 70/12996 0/8590 70/4406 - - - - - - -
?/? c.326+1G>A r.spl? p.? g.76434029C>T Copied from the Exome Variant Server RCHY1_000024 1/12990 0/8586 1/4404 - - - - - - -
?/? c.326+27A>C r.(=) p.(=) g.76434003T>G Copied from the Exome Variant Server RCHY1_000021 1/12986 1/8582 0/4404 - - - - - - -
?/? c.327-46G>A r.(=) p.(=) g.76419435C>T Copied from the Exome Variant Server RCHY1_000029 1/12966 0/8570 1/4396 - - - - - - -
?/? c.327-31C>G r.(=) p.(=) g.76419420G>C Copied from the Exome Variant Server RCHY1_000027 1/12974 1/8574 0/4400 - - - - - - -
?/? c.400C>T r.(?) p.(His134Tyr) g.76419316G>A Copied from the Exome Variant Server RCHY1_000025 1/12978 0/8578 1/4400 - - - - - - -
?/? c.405+5A>G r.spl? p.? g.76419306T>C Copied from the Exome Variant Server RCHY1_000023 18/12930 0/8554 18/4376 - - - - - - -
?/? c.416A>G r.(?) p.(Asn139Ser) g.76417133T>C Copied from the Exome Variant Server RCHY1_000022 1/12976 1/8582 0/4394 - - - - - - -
?/? c.450+37C>T r.(=) p.(=) g.76417062G>A Copied from the Exome Variant Server RCHY1_000020 9/12994 0/8590 9/4404 - - - - - - -
?/? c.450+50A>G r.(=) p.(=) g.76417049T>C Copied from the Exome Variant Server RCHY1_000019 2/12996 2/8592 0/4404 - - - - - - -
?/? c.451-45T>C r.(=) p.(=) g.76417037A>G Copied from the Exome Variant Server RCHY1_000018 1/12994 0/8590 1/4404 - - - - - - -
?/? c.451-33T>A r.(=) p.(=) g.76417025A>T Copied from the Exome Variant Server RCHY1_000017 1/12996 1/8590 0/4406 - - - - - - -
?/? c.451-29del r.(=) p.(=) g.76417021del Copied from the Exome Variant Server RCHY1_000016 1/12510 1/8244 0/4266 - - - - - - -
?/? c.509+3A>G r.spl? p.? g.76416931T>C Copied from the Exome Variant Server RCHY1_000015 3/13000 0/8594 3/4406 - - - - - - -
?/? c.536_536+1del N/A N/A g.76416820_76416821del Copied from the Exome Variant Server RCHY1_000014 5/12388 2/8200 3/4188 - - - - - - -
?/? c.536+42C>T r.(=) p.(=) g.76416779G>A Copied from the Exome Variant Server RCHY1_000013 8252/12660 5025/8470 3227/4190 - - - - - - -
?/? c.537-41del r.(=) p.(=) g.76415952del Copied from the Exome Variant Server RCHY1_000012 1/12520 1/8254 0/4266 - - - - - - -
?/? c.537-13C>G r.(=) p.(=) g.76415924G>C Copied from the Exome Variant Server RCHY1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.558T>G r.(?) p.(Cys186Trp) g.76415890A>C Copied from the Exome Variant Server RCHY1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.563A>G r.(?) p.(His188Arg) g.76415885T>C Copied from the Exome Variant Server RCHY1_000009 9/13006 0/8600 9/4406 - - - - - - -
?/? c.630A>G r.(=) p.(=) g.76415818T>C Copied from the Exome Variant Server RCHY1_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.667A>G r.(?) p.(Asn223Asp) g.76407867T>C Copied from the Exome Variant Server RCHY1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.683G>A r.(?) p.(Arg228Gln) g.76407851C>T Copied from the Exome Variant Server RCHY1_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.748C>G r.(?) p.(Gln250Glu) g.76407786G>C Copied from the Exome Variant Server RCHY1_000005 2/13006 2/8600 0/4406 - - - - - - -
?/? c.761G>C r.(?) p.(Arg254Pro) g.76407773C>G Copied from the Exome Variant Server RCHY1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.783A>G r.(=) p.(=) g.76407751T>C Copied from the Exome Variant Server RCHY1_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*2G>A r.(=) p.(=) g.76407746C>T Copied from the Exome Variant Server RCHY1_000002 2/13006 0/8600 2/4406 - - - - - - -
?/? c.*21G>T r.(=) p.(=) g.76407727C>A Copied from the Exome Variant Server RCHY1_000001 1/13006 1/8600 0/4406 - - - - - - -
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