Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44006589A>CCA399726186NAGS,PYYc.976A>C (p.Ser326Arg)
c.883A>C (p.Ser295Arg)
n.251A>C
c.478A>C (p.Ser160Arg)
c.-463+16983T>G (n.-463+16983T>G)
17g.44006589A>GCA399726188NAGS,PYYc.976A>G (p.Ser326Gly)
c.883A>G (p.Ser295Gly)
n.251A>G
c.478A>G (p.Ser160Gly)
c.-463+16983T>C (n.-463+16983T>C)
17g.44006589A>TCA399726190NAGS,PYYc.976A>T (p.Ser326Cys)
c.883A>T (p.Ser295Cys)
n.251A>T
c.478A>T (p.Ser160Cys)
c.-463+16983T>A (n.-463+16983T>A)
gnomAD v4
17g.44006590G>ACA399726192NAGS,PYYc.977G>A (p.Ser326Asn)
c.884G>A (p.Ser295Asn)
n.252G>A
c.479G>A (p.Ser160Asn)
c.-463+16982C>T (n.-463+16982C>T)
dbSNP gnomAD v4
17g.44006590G>CCA399726193NAGS,PYYc.977G>C (p.Ser326Thr)
c.884G>C (p.Ser295Thr)
n.252G>C
c.479G>C (p.Ser160Thr)
c.-463+16982C>G (n.-463+16982C>G)
17g.44006590G=CA2261182205NAGS,PYYc.977G= (p.Ser326=)
c.884G= (p.Ser295=)
n.252G=
c.479G= (p.Ser160=)
c.-463+16982C= (n.-463+16982C=)
17g.44006590G>TCA399726194NAGS,PYYc.977G>T (p.Ser326Ile)
c.884G>T (p.Ser295Ile)
n.252G>T
c.479G>T (p.Ser160Ile)
c.-463+16982C>A (n.-463+16982C>A)
17g.44006591C>ACA399726197NAGS,PYYc.978C>A (p.Ser326Arg)
c.885C>A (p.Ser295Arg)
n.253C>A
c.480C>A (p.Ser160Arg)
c.-463+16981G>T (n.-463+16981G>T)
gnomAD v4
17g.44006591C>GCA399726198NAGS,PYYc.978C>G (p.Ser326Arg)
c.885C>G (p.Ser295Arg)
n.253C>G
c.480C>G (p.Ser160Arg)
c.-463+16981G>C (n.-463+16981G>C)
17g.44006591C>TCA500241095NAGS,PYYc.978C>T (p.Ser326=)
c.885C>T (p.Ser295=)
n.253C>T
c.480C>T (p.Ser160=)
c.-463+16981G>A (n.-463+16981G>A)
gnomAD v4 COSMIC
17g.44006592A=CA2261182206NAGS,PYYc.979A= (p.Thr327=)
c.886A= (p.Thr296=)
n.254A=
c.481A= (p.Thr161=)
c.-463+16980T= (n.-463+16980T=)
17g.44006592A>CCA399726203NAGS,PYYc.979A>C (p.Thr327Pro)
c.886A>C (p.Thr296Pro)
n.254A>C
c.481A>C (p.Thr161Pro)
c.-463+16980T>G (n.-463+16980T>G)
dbSNP gnomAD v3 gnomAD v4
17g.44006592A>GCA399726202NAGS,PYYc.979A>G (p.Thr327Ala)
c.886A>G (p.Thr296Ala)
n.254A>G
c.481A>G (p.Thr161Ala)
c.-463+16980T>C (n.-463+16980T>C)
17g.44006592A>TCA399726200NAGS,PYYc.979A>T (p.Thr327Ser)
c.886A>T (p.Thr296Ser)
n.254A>T
c.481A>T (p.Thr161Ser)
c.-463+16980T>A (n.-463+16980T>A)
17g.44006593C>ACA399726205NAGS,PYYc.980C>A (p.Thr327Lys)
c.887C>A (p.Thr296Lys)
n.255C>A
c.482C>A (p.Thr161Lys)
c.-463+16979G>T (n.-463+16979G>T)
17g.44006593C>GCA399726207NAGS,PYYc.980C>G (p.Thr327Arg)
c.887C>G (p.Thr296Arg)
n.255C>G
c.482C>G (p.Thr161Arg)
c.-463+16979G>C (n.-463+16979G>C)
17g.44006593C>TCA399726208NAGS,PYYc.980C>T (p.Thr327Ile)
c.887C>T (p.Thr296Ile)
n.255C>T
c.482C>T (p.Thr161Ile)
c.-463+16979G>A (n.-463+16979G>A)
gnomAD v4
17g.44006594A=CA2261182207NAGS,PYYc.981A= (p.Thr327=)
c.888A= (p.Thr296=)
n.256A=
c.483A= (p.Thr161=)
c.-463+16978T= (n.-463+16978T=)
17g.44006594A>CCA500241096NAGS,PYYc.981A>C (p.Thr327=)
c.888A>C (p.Thr296=)
n.256A>C
c.483A>C (p.Thr161=)
c.-463+16978T>G (n.-463+16978T>G)
17g.44006594A>GCA500241097NAGS,PYYc.981A>G (p.Thr327=)
c.888A>G (p.Thr296=)
n.256A>G
c.483A>G (p.Thr161=)
c.-463+16978T>C (n.-463+16978T>C)
17g.44006594A>TCA500241098NAGS,PYYc.981A>T (p.Thr327=)
c.888A>T (p.Thr296=)
n.256A>T
c.483A>T (p.Thr161=)
c.-463+16978T>A (n.-463+16978T>A)
dbSNP gnomAD v2 gnomAD v4
17g.44006595A=CA2261182208NAGS,PYYc.982A= (p.Lys328=)
c.889A= (p.Lys297=)
n.257A=
c.484A= (p.Lys162=)
c.-463+16977T= (n.-463+16977T=)
17g.44006595A>CCA399726210NAGS,PYYc.982A>C (p.Lys328Gln)
c.889A>C (p.Lys297Gln)
n.257A>C
c.484A>C (p.Lys162Gln)
c.-463+16977T>G (n.-463+16977T>G)
17g.44006595A>GCA399726211NAGS,PYYc.982A>G (p.Lys328Glu)
c.889A>G (p.Lys297Glu)
n.257A>G
c.484A>G (p.Lys162Glu)
c.-463+16977T>C (n.-463+16977T>C)
dbSNP gnomAD v4
17g.44006595A>TCA399726212NAGS,PYYc.982A>T (p.Lys328Ter)
c.889A>T (p.Lys297Ter)
n.257A>T
c.484A>T (p.Lys162Ter)
c.-463+16977T>A (n.-463+16977T>A)
17g.44006596A>CCA399726215NAGS,PYYc.983A>C (p.Lys328Thr)
c.890A>C (p.Lys297Thr)
n.258A>C
c.485A>C (p.Lys162Thr)
c.-463+16976T>G (n.-463+16976T>G)
17g.44006596A>GCA399726216NAGS,PYYc.983A>G (p.Lys328Arg)
c.890A>G (p.Lys297Arg)
n.258A>G
c.485A>G (p.Lys162Arg)
c.-463+16976T>C (n.-463+16976T>C)
17g.44006596A>TCA399726218NAGS,PYYc.983A>T (p.Lys328Ile)
c.890A>T (p.Lys297Ile)
n.258A>T
c.485A>T (p.Lys162Ile)
c.-463+16976T>A (n.-463+16976T>A)
17g.44006597A>CCA399726219NAGS,PYYc.984A>C (p.Lys328Asn)
c.891A>C (p.Lys297Asn)
n.259A>C
c.486A>C (p.Lys162Asn)
c.-463+16975T>G (n.-463+16975T>G)
ClinVar
17g.44006597A>GCA500241099NAGS,PYYc.984A>G (p.Lys328=)
c.891A>G (p.Lys297=)
n.259A>G
c.486A>G (p.Lys162=)
c.-463+16975T>C (n.-463+16975T>C)
17g.44006597A>TCA399726221NAGS,PYYc.984A>T (p.Lys328Asn)
c.891A>T (p.Lys297Asn)
n.259A>T
c.486A>T (p.Lys162Asn)
c.-463+16975T>A (n.-463+16975T>A)
gnomAD v4
17g.44006598G>ACA399726225NAGS,PYYc.985G>A (p.Glu329Lys)
c.892G>A (p.Glu298Lys)
n.260G>A
c.487G>A (p.Glu163Lys)
c.-463+16974C>T (n.-463+16974C>T)
17g.44006598G>CCA399726223NAGS,PYYc.985G>C (p.Glu329Gln)
c.892G>C (p.Glu298Gln)
n.260G>C
c.487G>C (p.Glu163Gln)
c.-463+16974C>G (n.-463+16974C>G)
17g.44006598G>TCA399726222NAGS,PYYc.985G>T (p.Glu329Ter)
c.892G>T (p.Glu298Ter)
n.260G>T
c.487G>T (p.Glu163Ter)
c.-463+16974C>A (n.-463+16974C>A)
gnomAD v4
17g.44006599A>CCA399726226NAGS,PYYc.986A>C (p.Glu329Ala)
c.893A>C (p.Glu298Ala)
n.261A>C
c.488A>C (p.Glu163Ala)
c.-463+16973T>G (n.-463+16973T>G)
17g.44006599A>GCA399726228NAGS,PYYc.986A>G (p.Glu329Gly)
c.893A>G (p.Glu298Gly)
n.261A>G
c.488A>G (p.Glu163Gly)
c.-463+16973T>C (n.-463+16973T>C)
17g.44006599A>TCA399726230NAGS,PYYc.986A>T (p.Glu329Val)
c.893A>T (p.Glu298Val)
n.261A>T
c.488A>T (p.Glu163Val)
c.-463+16973T>A (n.-463+16973T>A)
17g.44006600A>CCA399726232NAGS,PYYc.987A>C (p.Glu329Asp)
c.894A>C (p.Glu298Asp)
n.262A>C
c.489A>C (p.Glu163Asp)
c.-463+16972T>G (n.-463+16972T>G)
17g.44006600A>GCA500241100NAGS,PYYc.987A>G (p.Glu329=)
c.894A>G (p.Glu298=)
n.262A>G
c.489A>G (p.Glu163=)
c.-463+16972T>C (n.-463+16972T>C)
17g.44006600A>TCA399726233NAGS,PYYc.987A>T (p.Glu329Asp)
c.894A>T (p.Glu298Asp)
n.262A>T
c.489A>T (p.Glu163Asp)
c.-463+16972T>A (n.-463+16972T>A)
17g.44006601C>ACA500241101NAGS,PYYc.988C>A (p.Arg330=)
c.895C>A (p.Arg299=)
n.263C>A
c.490C>A (p.Arg164=)
c.-463+16971G>T (n.-463+16971G>T)
17g.44006601C=CA2261182209NAGS,PYYc.988C= (p.Arg330=)
c.895C= (p.Arg299=)
n.263C=
c.490C= (p.Arg164=)
c.-463+16971G= (n.-463+16971G=)
17g.44006601C>GCA399726235NAGS,PYYc.988C>G (p.Arg330Gly)
c.895C>G (p.Arg299Gly)
n.263C>G
c.490C>G (p.Arg164Gly)
c.-463+16971G>C (n.-463+16971G>C)
17g.44006601C>TCA8595288NAGS,PYYc.988C>T (p.Arg330Trp)
c.895C>T (p.Arg299Trp)
n.263C>T
c.490C>T (p.Arg164Trp)
c.-463+16971G>A (n.-463+16971G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44006602G>ACA399726238NAGS,PYYc.989G>A (p.Arg330Gln)
c.896G>A (p.Arg299Gln)
n.264G>A
c.491G>A (p.Arg164Gln)
c.-463+16970C>T (n.-463+16970C>T)
dbSNP gnomAD v3 gnomAD v4
17g.44006602G>CCA399726240NAGS,PYYc.989G>C (p.Arg330Pro)
c.896G>C (p.Arg299Pro)
n.264G>C
c.491G>C (p.Arg164Pro)
c.-463+16970C>G (n.-463+16970C>G)
dbSNP gnomAD v2 gnomAD v4
17g.44006602G=CA2261182210NAGS,PYYc.989G= (p.Arg330=)
c.896G= (p.Arg299=)
n.264G=
c.491G= (p.Arg164=)
c.-463+16970C= (n.-463+16970C=)
17g.44006602G>TCA399726242NAGS,PYYc.989G>T (p.Arg330Leu)
c.896G>T (p.Arg299Leu)
n.264G>T
c.491G>T (p.Arg164Leu)
c.-463+16970C>A (n.-463+16970C>A)
gnomAD v4
17g.44006603G>ACA500241102NAGS,PYYc.990G>A (p.Arg330=)
c.897G>A (p.Arg299=)
n.265G>A
c.492G>A (p.Arg164=)
c.-463+16969C>T (n.-463+16969C>T)
17g.44006603G>CCA500241103NAGS,PYYc.990G>C (p.Arg330=)
c.897G>C (p.Arg299=)
n.265G>C
c.492G>C (p.Arg164=)
c.-463+16969C>G (n.-463+16969C>G)

Number of alleles fetched