Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.81933277A>CCA502334090PYCR1c.897T>G (p.Ala299=)
c.867+30T>G (n.867+30T>G)
c.978T>G (p.Ala326=)
c.804T>G (p.Ala268=)
c.*79T>G (n.*79T>G)
c.601T>G (n.601T>G)
17g.81933277A>GCA502334088PYCR1c.897T>C (p.Ala299=)
c.867+30T>C (n.867+30T>C)
c.978T>C (p.Ala326=)
c.804T>C (p.Ala268=)
c.*79T>C (n.*79T>C)
c.601T>C (n.601T>C)
17g.81933277A>TCA502334089PYCR1c.897T>A (p.Ala299=)
c.867+30T>A (n.867+30T>A)
c.978T>A (p.Ala326=)
c.804T>A (p.Ala268=)
c.*79T>A (n.*79T>A)
c.601T>A (n.601T>A)
 gnomAD v4
17g.81933278G>ACA401536513PYCR1c.896C>T (p.Ala299Val)
c.867+29C>T (n.867+29C>T)
c.977C>T (p.Ala326Val)
c.803C>T (p.Ala268Val)
c.*78C>T (n.*78C>T)
c.600C>T (n.600C>T)
 dbSNP
17g.81933278G>CCA401536514PYCR1c.896C>G (p.Ala299Gly)
c.867+29C>G (n.867+29C>G)
c.977C>G (p.Ala326Gly)
c.803C>G (p.Ala268Gly)
c.*78C>G (n.*78C>G)
c.600C>G (n.600C>G)
17g.81933278G=CA2278748903PYCR1c.896C= (p.Ala299=)
c.867+29C= (n.867+29C=)
c.977C= (p.Ala326=)
c.803C= (p.Ala268=)
c.*78C= (n.*78C=)
c.600C= (n.600C=)
17g.81933278G>TCA401536516PYCR1c.896C>A (p.Ala299Asp)
c.867+29C>A (n.867+29C>A)
c.977C>A (p.Ala326Asp)
c.803C>A (p.Ala268Asp)
c.*78C>A (n.*78C>A)
c.600C>A (n.600C>A)
17g.81933279C>ACA401536518PYCR1c.895G>T (p.Ala299Ser)
c.867+28G>T (n.867+28G>T)
c.976G>T (p.Ala326Ser)
c.802G>T (p.Ala268Ser)
c.*77G>T (n.*77G>T)
c.599G>T (n.599G>T)
17g.81933279C=CA2278748904PYCR1c.895G= (p.Ala299=)
c.867+28G= (n.867+28G=)
c.976G= (p.Ala326=)
c.802G= (p.Ala268=)
c.*77G= (n.*77G=)
c.599G= (n.599G=)
17g.81933279C>GCA401536520PYCR1c.895G>C (p.Ala299Pro)
c.867+28G>C (n.867+28G>C)
c.976G>C (p.Ala326Pro)
c.802G>C (p.Ala268Pro)
c.*77G>C (n.*77G>C)
c.599G>C (n.599G>C)
 gnomAD v4
17g.81933279C>TCA8845238PYCR1c.895G>A (p.Ala299Thr)
c.867+28G>A (n.867+28G>A)
c.976G>A (p.Ala326Thr)
c.802G>A (p.Ala268Thr)
c.*77G>A (n.*77G>A)
c.599G>A (n.599G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81933280G>ACA8845239PYCR1c.894C>T (p.Thr298=)
c.867+27C>T (n.867+27C>T)
c.975C>T (p.Thr325=)
c.801C>T (p.Thr267=)
c.*76C>T (n.*76C>T)
c.598C>T (n.598C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81933280G>CCA502334106PYCR1c.894C>G (p.Thr298=)
c.867+27C>G (n.867+27C>G)
c.975C>G (p.Thr325=)
c.801C>G (p.Thr267=)
c.*76C>G (n.*76C>G)
c.598C>G (n.598C>G)
17g.81933280G=CA2278748905PYCR1c.894C= (p.Thr298=)
c.867+27C= (n.867+27C=)
c.975C= (p.Thr325=)
c.801C= (p.Thr267=)
c.*76C= (n.*76C=)
c.598C= (n.598C=)
17g.81933280G>TCA502334108PYCR1c.894C>A (p.Thr298=)
c.867+27C>A (n.867+27C>A)
c.975C>A (p.Thr325=)
c.801C>A (p.Thr267=)
c.*76C>A (n.*76C>A)
c.598C>A (n.598C>A)
17g.81933280_81933282delCA2526980166PYCR1c.892_894del (p.Thr298del)
c.867+25_867+27del (n.867+25_867+27del)
c.973_975del (p.Thr325del)
c.799_801del (p.Thr267del)
c.*74_*76del (n.*74_*76del)
c.596_598del (n.596_598del)
17g.81933281G>ACA401536521PYCR1c.893C>T (p.Thr298Ile)
c.867+26C>T (n.867+26C>T)
c.974C>T (p.Thr325Ile)
c.800C>T (p.Thr267Ile)
c.*75C>T (n.*75C>T)
c.597C>T (n.597C>T)
17g.81933281G>CCA401536522PYCR1c.893C>G (p.Thr298Ser)
c.867+26C>G (n.867+26C>G)
c.974C>G (p.Thr325Ser)
c.800C>G (p.Thr267Ser)
c.*75C>G (n.*75C>G)
c.597C>G (n.597C>G)
 gnomAD v4
17g.81933281G>TCA401536524PYCR1c.893C>A (p.Thr298Asn)
c.867+26C>A (n.867+26C>A)
c.974C>A (p.Thr325Asn)
c.800C>A (p.Thr267Asn)
c.*75C>A (n.*75C>A)
c.597C>A (n.597C>A)
17g.81933282T>ACA8845240PYCR1c.892A>T (p.Thr298Ser)
c.867+25A>T (n.867+25A>T)
c.973A>T (p.Thr325Ser)
c.799A>T (p.Thr267Ser)
c.*74A>T (n.*74A>T)
c.596A>T (n.596A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.81933282T>CCA401536526PYCR1c.892A>G (p.Thr298Ala)
c.867+25A>G (n.867+25A>G)
c.973A>G (p.Thr325Ala)
c.799A>G (p.Thr267Ala)
c.*74A>G (n.*74A>G)
c.596A>G (n.596A>G)
17g.81933282T>GCA401536527PYCR1c.892A>C (p.Thr298Pro)
c.867+25A>C (n.867+25A>C)
c.973A>C (p.Thr325Pro)
c.799A>C (p.Thr267Pro)
c.*74A>C (n.*74A>C)
c.596A>C (n.596A>C)
17g.81933282T=CA2278748906PYCR1c.892A= (p.Thr298=)
c.867+25A= (n.867+25A=)
c.973A= (p.Thr325=)
c.799A= (p.Thr267=)
c.*74A= (n.*74A=)
c.596A= (n.596A=)
17g.81933283C>ACA502334117PYCR1c.891G>T (p.Gly297=)
c.867+24G>T (n.867+24G>T)
c.972G>T (p.Gly324=)
c.798G>T (p.Gly266=)
c.*73G>T (n.*73G>T)
c.595G>T (n.595G>T)
17g.81933283C=CA2278748907PYCR1c.891G= (p.Gly297=)
c.867+24G= (n.867+24G=)
c.972G= (p.Gly324=)
c.798G= (p.Gly266=)
c.*73G= (n.*73G=)
c.595G= (n.595G=)
17g.81933283C>GCA502334120PYCR1c.891G>C (p.Gly297=)
c.867+24G>C (n.867+24G>C)
c.972G>C (p.Gly324=)
c.798G>C (p.Gly266=)
c.*73G>C (n.*73G>C)
c.595G>C (n.595G>C)
17g.81933283C>TCA502334123PYCR1c.891G>A (p.Gly297=)
c.867+24G>A (n.867+24G>A)
c.972G>A (p.Gly324=)
c.798G>A (p.Gly266=)
c.*73G>A (n.*73G>A)
c.595G>A (n.595G>A)
 dbSNP
17g.81933284C>ACA401536529PYCR1c.890G>T (p.Gly297Val)
c.867+23G>T (n.867+23G>T)
c.971G>T (p.Gly324Val)
c.797G>T (p.Gly266Val)
c.*72G>T (n.*72G>T)
c.594G>T (n.594G>T)
17g.81933284C=CA2278748908PYCR1c.890G= (p.Gly297=)
c.867+23G= (n.867+23G=)
c.971G= (p.Gly324=)
c.797G= (p.Gly266=)
c.*72G= (n.*72G=)
c.594G= (n.594G=)
17g.81933284C>GCA401536530PYCR1c.890G>C (p.Gly297Ala)
c.867+23G>C (n.867+23G>C)
c.971G>C (p.Gly324Ala)
c.797G>C (p.Gly266Ala)
c.*72G>C (n.*72G>C)
c.594G>C (n.594G>C)
17g.81933284C>TCA8845241PYCR1c.890G>A (p.Gly297Glu)
c.867+23G>A (n.867+23G>A)
c.971G>A (p.Gly324Glu)
c.797G>A (p.Gly266Glu)
c.*72G>A (n.*72G>A)
c.594G>A (n.594G>A)
 dbSNP ExAC gnomAD v2
17g.81933285C>ACA401536535PYCR1c.889G>T (p.Gly297Trp)
c.867+22G>T (n.867+22G>T)
c.970G>T (p.Gly324Trp)
c.796G>T (p.Gly266Trp)
c.*71G>T (n.*71G>T)
c.593G>T (n.593G>T)
17g.81933285C>GCA401536534PYCR1c.889G>C (p.Gly297Arg)
c.867+22G>C (n.867+22G>C)
c.970G>C (p.Gly324Arg)
c.796G>C (p.Gly266Arg)
c.*71G>C (n.*71G>C)
c.593G>C (n.593G>C)
17g.81933285C>TCA401536532PYCR1c.889G>A (p.Gly297Arg)
c.867+22G>A (n.867+22G>A)
c.970G>A (p.Gly324Arg)
c.796G>A (p.Gly266Arg)
c.*71G>A (n.*71G>A)
c.593G>A (n.593G>A)
 gnomAD v4 COSMIC
17g.81933286T>ACA502334136PYCR1c.888A>T (p.Ala296=)
c.867+21A>T (n.867+21A>T)
c.969A>T (p.Ala323=)
c.795A>T (p.Ala265=)
c.*70A>T (n.*70A>T)
c.592A>T (n.592A>T)
17g.81933286T>CCA502334139PYCR1c.888A>G (p.Ala296=)
c.867+21A>G (n.867+21A>G)
c.969A>G (p.Ala323=)
c.795A>G (p.Ala265=)
c.*70A>G (n.*70A>G)
c.592A>G (n.592A>G)
 ClinVar gnomAD v4
17g.81933286T>GCA502334142PYCR1c.888A>C (p.Ala296=)
c.867+21A>C (n.867+21A>C)
c.969A>C (p.Ala323=)
c.795A>C (p.Ala265=)
c.*70A>C (n.*70A>C)
c.592A>C (n.592A>C)
17g.81933287G>ACA401536537PYCR1c.887C>T (p.Ala296Val)
c.867+20C>T (n.867+20C>T)
c.968C>T (p.Ala323Val)
c.794C>T (p.Ala265Val)
c.*69C>T (n.*69C>T)
c.591C>T (n.591C>T)
17g.81933287G>CCA401536540PYCR1c.887C>G (p.Ala296Gly)
c.867+20C>G (n.867+20C>G)
c.968C>G (p.Ala323Gly)
c.794C>G (p.Ala265Gly)
c.*69C>G (n.*69C>G)
c.591C>G (n.591C>G)
17g.81933287G>TCA401536538PYCR1c.887C>A (p.Ala296Glu)
c.867+20C>A (n.867+20C>A)
c.968C>A (p.Ala323Glu)
c.794C>A (p.Ala265Glu)
c.*69C>A (n.*69C>A)
c.591C>A (n.591C>A)
17g.81933288C>ACA401536542PYCR1c.886G>T (p.Ala296Ser)
c.867+19G>T (n.867+19G>T)
c.967G>T (p.Ala323Ser)
c.793G>T (p.Ala265Ser)
c.*68G>T (n.*68G>T)
c.590G>T (n.590G>T)
17g.81933288C=CA2278748909PYCR1c.886G= (p.Ala296=)
c.867+19G= (n.867+19G=)
c.967G= (p.Ala323=)
c.793G= (p.Ala265=)
c.*68G= (n.*68G=)
c.590G= (n.590G=)
17g.81933288C>GCA401536545PYCR1c.886G>C (p.Ala296Pro)
c.867+19G>C (n.867+19G>C)
c.967G>C (p.Ala323Pro)
c.793G>C (p.Ala265Pro)
c.*68G>C (n.*68G>C)
c.590G>C (n.590G>C)
17g.81933288C>TCA401536544PYCR1c.886G>A (p.Ala296Thr)
c.867+19G>A (n.867+19G>A)
c.967G>A (p.Ala323Thr)
c.793G>A (p.Ala265Thr)
c.*68G>A (n.*68G>A)
c.590G>A (n.590G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.81933289A>CCA502334160PYCR1c.885T>G (p.Pro295=)
c.867+18T>G (n.867+18T>G)
c.966T>G (p.Pro322=)
c.792T>G (p.Pro264=)
c.*67T>G (n.*67T>G)
c.589T>G (n.589T>G)
17g.81933289A>GCA502334164PYCR1c.885T>C (p.Pro295=)
c.867+18T>C (n.867+18T>C)
c.966T>C (p.Pro322=)
c.792T>C (p.Pro264=)
c.*67T>C (n.*67T>C)
c.589T>C (n.589T>C)
 gnomAD v4
17g.81933289A>TCA502334166PYCR1c.885T>A (p.Pro295=)
c.867+18T>A (n.867+18T>A)
c.966T>A (p.Pro322=)
c.792T>A (p.Pro264=)
c.*67T>A (n.*67T>A)
c.589T>A (n.589T>A)
17g.81933290G>ACA401536546PYCR1c.884C>T (p.Pro295Leu)
c.867+17C>T (n.867+17C>T)
c.965C>T (p.Pro322Leu)
c.791C>T (p.Pro264Leu)
c.*66C>T (n.*66C>T)
c.588C>T (n.588C>T)
 gnomAD v4
17g.81933290G>CCA401536548PYCR1c.884C>G (p.Pro295Arg)
c.867+17C>G (n.867+17C>G)
c.965C>G (p.Pro322Arg)
c.791C>G (p.Pro264Arg)
c.*66C>G (n.*66C>G)
c.588C>G (n.588C>G)
17g.81933290G>TCA401536547PYCR1c.884C>A (p.Pro295His)
c.867+17C>A (n.867+17C>A)
c.965C>A (p.Pro322His)
c.791C>A (p.Pro264His)
c.*66C>A (n.*66C>A)
c.588C>A (n.588C>A)
 COSMIC

Number of alleles fetched