Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44006581_44006585delinsAGTGGCA2261182198NAGS,PYYc.968_972delinsAGTGG (p.Glu323=)
c.875_879delinsAGTGG (p.Glu292=)
n.243_247delinsAGTGG
c.470_474delinsAGTGG (p.Glu157=)
c.-463+16987_-463+16991delinsCCACT (n.-463+16987_-463+16991delinsCCACT)
17g.44006585_44006588dupCA8595285NAGS,PYYc.972_975dup (p.Ser326GlyfsTer31)
c.879_882dup (p.Ser295GlyfsTer31)
n.247_250dup
c.474_477dup (p.Ser160GlyfsTer31)
c.-463+16987_-463+16990dup (n.-463+16987_-463+16990dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44006585_44006588delCA8595286NAGS,PYYc.972_975del (p.Trp324Ter)
c.879_882del (p.Trp293Ter)
n.247_250del
c.474_477del (p.Trp158Ter)
c.-463+16987_-463+16990del (n.-463+16987_-463+16990del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44006584G>ACA115543NAGS,PYYc.971G>A (p.Trp324Ter)
c.878G>A (p.Trp293Ter)
n.246G>A
c.473G>A (p.Trp158Ter)
c.-463+16988C>T (n.-463+16988C>T)
 ClinVar dbSNP gnomAD v4
17g.44006584G>CCA399726168NAGS,PYYc.971G>C (p.Trp324Ser)
c.878G>C (p.Trp293Ser)
n.246G>C
c.473G>C (p.Trp158Ser)
c.-463+16988C>G (n.-463+16988C>G)
17g.44006584G=CA2261182200NAGS,PYYc.971G= (p.Trp324=)
c.878G= (p.Trp293=)
n.246G=
c.473G= (p.Trp158=)
c.-463+16988C= (n.-463+16988C=)
17g.44006584G>TCA399726170NAGS,PYYc.971G>T (p.Trp324Leu)
c.878G>T (p.Trp293Leu)
n.246G>T
c.473G>T (p.Trp158Leu)
c.-463+16988C>A (n.-463+16988C>A)
 gnomAD v4
17g.44006585G>ACA399726172NAGS,PYYc.972G>A (p.Trp324Ter)
c.879G>A (p.Trp293Ter)
n.247G>A
c.474G>A (p.Trp158Ter)
c.-463+16987C>T (n.-463+16987C>T)
 gnomAD v4
17g.44006585G>CCA399726173NAGS,PYYc.972G>C (p.Trp324Cys)
c.879G>C (p.Trp293Cys)
n.247G>C
c.474G>C (p.Trp158Cys)
c.-463+16987C>G (n.-463+16987C>G)
 gnomAD v4
17g.44006585G=CA2261182201NAGS,PYYc.972G= (p.Trp324=)
c.879G= (p.Trp293=)
n.247G=
c.474G= (p.Trp158=)
c.-463+16987C= (n.-463+16987C=)
17g.44006585G>TCA290853133NAGS,PYYc.972G>T (p.Trp324Cys)
c.879G>T (p.Trp293Cys)
n.247G>T
c.474G>T (p.Trp158Cys)
c.-463+16987C>A (n.-463+16987C>A)
 dbSNP gnomAD v4
17g.44006586G>ACA399726175NAGS,PYYc.973G>A (p.Val325Met)
c.880G>A (p.Val294Met)
n.248G>A
c.475G>A (p.Val159Met)
c.-463+16986C>T (n.-463+16986C>T)
17g.44006586G>CCA399726176NAGS,PYYc.973G>C (p.Val325Leu)
c.880G>C (p.Val294Leu)
n.248G>C
c.475G>C (p.Val159Leu)
c.-463+16986C>G (n.-463+16986C>G)
17g.44006586G=CA2261182202NAGS,PYYc.973G= (p.Val325=)
c.880G= (p.Val294=)
n.248G=
c.475G= (p.Val159=)
c.-463+16986C= (n.-463+16986C=)
17g.44006586G>TCA399726178NAGS,PYYc.973G>T (p.Val325Leu)
c.880G>T (p.Val294Leu)
n.248G>T
c.475G>T (p.Val159Leu)
c.-463+16986C>A (n.-463+16986C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.44006587T>ACA399726180NAGS,PYYc.974T>A (p.Val325Glu)
c.881T>A (p.Val294Glu)
n.249T>A
c.476T>A (p.Val159Glu)
c.-463+16985A>T (n.-463+16985A>T)
 gnomAD v4
17g.44006587T>CCA399726183NAGS,PYYc.974T>C (p.Val325Ala)
c.881T>C (p.Val294Ala)
n.249T>C
c.476T>C (p.Val159Ala)
c.-463+16985A>G (n.-463+16985A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.44006587T>GCA399726181NAGS,PYYc.974T>G (p.Val325Gly)
c.881T>G (p.Val294Gly)
n.249T>G
c.476T>G (p.Val159Gly)
c.-463+16985A>C (n.-463+16985A>C)
 gnomAD v4
17g.44006587T=CA2261182203NAGS,PYYc.974T= (p.Val325=)
c.881T= (p.Val294=)
n.249T=
c.476T= (p.Val159=)
c.-463+16985A= (n.-463+16985A=)
17g.44006588G>ACA8595287NAGS,PYYc.975G>A (p.Val325=)
c.882G>A (p.Val294=)
n.250G>A
c.477G>A (p.Val159=)
c.-463+16984C>T (n.-463+16984C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44006588G>CCA500241093NAGS,PYYc.975G>C (p.Val325=)
c.882G>C (p.Val294=)
n.250G>C
c.477G>C (p.Val159=)
c.-463+16984C>G (n.-463+16984C>G)
17g.44006588G=CA2261182204NAGS,PYYc.975G= (p.Val325=)
c.882G= (p.Val294=)
n.250G=
c.477G= (p.Val159=)
c.-463+16984C= (n.-463+16984C=)
17g.44006588G>TCA500241094NAGS,PYYc.975G>T (p.Val325=)
c.882G>T (p.Val294=)
n.250G>T
c.477G>T (p.Val159=)
c.-463+16984C>A (n.-463+16984C>A)
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)

Number of alleles fetched