Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44006637_44006638delinsCGCA2261182228NAGS,PYYc.1024_1025delinsCG (p.Arg342=)
c.931_932delinsCG (p.Arg311=)
n.299_300delinsCG
c.526_527delinsCG (p.Arg176=)
c.-463+16934_-463+16935delinsCG (n.-463+16934_-463+16935delinsCG)
17g.44006638delCA115542NAGS,PYYc.1025del (p.Arg342ProfsTer?)
c.932del (p.Arg311ProfsTer?)
n.300del
c.527del (p.Arg176ProfsTer?)
c.-463+16934del (n.-463+16934del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44006638G>ACA399726357NAGS,PYYc.1025G>A (p.Arg342His)
c.932G>A (p.Arg311His)
n.300G>A
c.527G>A (p.Arg176His)
c.-463+16934C>T (n.-463+16934C>T)
 dbSNP gnomAD v3 gnomAD v4
17g.44006638G>CCA399726359NAGS,PYYc.1025G>C (p.Arg342Pro)
c.932G>C (p.Arg311Pro)
n.300G>C
c.527G>C (p.Arg176Pro)
c.-463+16934C>G (n.-463+16934C>G)
17g.44006638G=CA2261182230NAGS,PYYc.1025G= (p.Arg342=)
c.932G= (p.Arg311=)
n.300G=
c.527G= (p.Arg176=)
c.-463+16934C= (n.-463+16934C=)
17g.44006638G>TCA399726360NAGS,PYYc.1025G>T (p.Arg342Leu)
c.932G>T (p.Arg311Leu)
n.300G>T
c.527G>T (p.Arg176Leu)
c.-463+16934C>A (n.-463+16934C>A)
17g.44006639C>ACA500241129NAGS,PYYc.1026C>A (p.Arg342=)
c.933C>A (p.Arg311=)
n.301C>A
c.528C>A (p.Arg176=)
c.-463+16933G>T (n.-463+16933G>T)
 ClinVar dbSNP
17g.44006639C>GCA500241130NAGS,PYYc.1026C>G (p.Arg342=)
c.933C>G (p.Arg311=)
n.301C>G
c.528C>G (p.Arg176=)
c.-463+16933G>C (n.-463+16933G>C)
17g.44006639C>TCA500241128NAGS,PYYc.1026C>T (p.Arg342=)
c.933C>T (p.Arg311=)
n.301C>T
c.528C>T (p.Arg176=)
c.-463+16933G>A (n.-463+16933G>A)
17g.44006640C>ACA399726363NAGS,PYYc.1027C>A (p.Leu343Met)
c.934C>A (p.Leu312Met)
n.302C>A
c.529C>A (p.Leu177Met)
c.-463+16932G>T (n.-463+16932G>T)
17g.44006640C>GCA399726364NAGS,PYYc.1027C>G (p.Leu343Val)
c.934C>G (p.Leu312Val)
n.302C>G
c.529C>G (p.Leu177Val)
c.-463+16932G>C (n.-463+16932G>C)
17g.44006640C>TCA500241131NAGS,PYYc.1027C>T (p.Leu343=)
c.934C>T (p.Leu312=)
n.302C>T
c.529C>T (p.Leu177=)
c.-463+16932G>A (n.-463+16932G>A)
 gnomAD v4
17g.44006641T>ACA399726366NAGS,PYYc.1028T>A (p.Leu343Gln)
c.935T>A (p.Leu312Gln)
n.303T>A
c.530T>A (p.Leu177Gln)
c.-463+16931A>T (n.-463+16931A>T)
17g.44006641T>CCA399726368NAGS,PYYc.1028T>C (p.Leu343Pro)
c.935T>C (p.Leu312Pro)
n.303T>C
c.530T>C (p.Leu177Pro)
c.-463+16931A>G (n.-463+16931A>G)
17g.44006641T>GCA399726369NAGS,PYYc.1028T>G (p.Leu343Arg)
c.935T>G (p.Leu312Arg)
n.303T>G
c.530T>G (p.Leu177Arg)
c.-463+16931A>C (n.-463+16931A>C)
17g.44006642G>ACA500241132NAGS,PYYc.1029G>A (p.Leu343=)
c.936G>A (p.Leu312=)
n.304G>A
c.531G>A (p.Leu177=)
c.-463+16930C>T (n.-463+16930C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44006642G>CCA500241135NAGS,PYYc.1029G>C (p.Leu343=)
c.936G>C (p.Leu312=)
n.304G>C
c.531G>C (p.Leu177=)
c.-463+16930C>G (n.-463+16930C>G)
17g.44006642G=CA2261182231NAGS,PYYc.1029G= (p.Leu343=)
c.936G= (p.Leu312=)
n.304G=
c.531G= (p.Leu177=)
c.-463+16930C= (n.-463+16930C=)
17g.44006642G>TCA500241137NAGS,PYYc.1029G>T (p.Leu343=)
c.936G>T (p.Leu312=)
n.304G>T
c.531G>T (p.Leu177=)
c.-463+16930C>A (n.-463+16930C>A)
 dbSNP gnomAD v3 gnomAD v4
17g.44006643C>ACA399726371NAGS,PYYc.1030C>A (p.Pro344Thr)
c.937C>A (p.Pro313Thr)
n.305C>A
c.532C>A (p.Pro178Thr)
c.-463+16929G>T (n.-463+16929G>T)
17g.44006643C>GCA399726374NAGS,PYYc.1030C>G (p.Pro344Ala)
c.937C>G (p.Pro313Ala)
n.305C>G
c.532C>G (p.Pro178Ala)
c.-463+16929G>C (n.-463+16929G>C)
17g.44006643C>TCA399726373NAGS,PYYc.1030C>T (p.Pro344Ser)
c.937C>T (p.Pro313Ser)
n.305C>T
c.532C>T (p.Pro178Ser)
c.-463+16929G>A (n.-463+16929G>A)
17g.44006644C>ACA399726375NAGS,PYYc.1031C>A (p.Pro344His)
c.938C>A (p.Pro313His)
n.306C>A
c.533C>A (p.Pro178His)
c.-463+16928G>T (n.-463+16928G>T)
17g.44006644C>GCA399726376NAGS,PYYc.1031C>G (p.Pro344Arg)
c.938C>G (p.Pro313Arg)
n.306C>G
c.533C>G (p.Pro178Arg)
c.-463+16928G>C (n.-463+16928G>C)
17g.44006644C>TCA399726378NAGS,PYYc.1031C>T (p.Pro344Leu)
c.938C>T (p.Pro313Leu)
n.306C>T
c.533C>T (p.Pro178Leu)
c.-463+16928G>A (n.-463+16928G>A)
17g.44006644_44006647delinsCCCACA2261182232NAGS,PYYc.1031_1034delinsCCCA (p.Pro344=)
c.938_941delinsCCCA (p.Pro313=)
n.306_309delinsCCCA
c.533_536delinsCCCA (p.Pro178=)
c.-463+16925_-463+16928delinsTGGG (n.-463+16925_-463+16928delinsTGGG)
17g.44006645C>ACA8595296NAGS,PYYc.1032C>A (p.Pro344=)
c.939C>A (p.Pro313=)
n.307C>A
c.534C>A (p.Pro178=)
c.-463+16927G>T (n.-463+16927G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44006645C=CA2261182233NAGS,PYYc.1032C= (p.Pro344=)
c.939C= (p.Pro313=)
n.307C=
c.534C= (p.Pro178=)
c.-463+16927G= (n.-463+16927G=)
17g.44006645C>GCA500241153NAGS,PYYc.1032C>G (p.Pro344=)
c.939C>G (p.Pro313=)
n.307C>G
c.534C>G (p.Pro178=)
c.-463+16927G>C (n.-463+16927G>C)
17g.44006645C>TCA500241151NAGS,PYYc.1032C>T (p.Pro344=)
c.939C>T (p.Pro313=)
n.307C>T
c.534C>T (p.Pro178=)
c.-463+16927G>A (n.-463+16927G>A)
 ClinVar dbSNP
17g.44006649_44006651delCA2261182234NAGS,PYYc.1036_1038del (p.His346del)
c.943_945del (p.His315del)
n.311_313del
c.538_540del (p.His180del)
c.-463+16925_-463+16927del (n.-463+16925_-463+16927del)
 dbSNP
17g.44006646C>ACA399726381NAGS,PYYc.1033C>A (p.His345Asn)
c.940C>A (p.His314Asn)
n.308C>A
c.535C>A (p.His179Asn)
c.-463+16926G>T (n.-463+16926G>T)
17g.44006646C=CA2261182235NAGS,PYYc.1033C= (p.His345=)
c.940C= (p.His314=)
n.308C=
c.535C= (p.His179=)
c.-463+16926G= (n.-463+16926G=)
17g.44006646C>GCA399726382NAGS,PYYc.1033C>G (p.His345Asp)
c.940C>G (p.His314Asp)
n.308C>G
c.535C>G (p.His179Asp)
c.-463+16926G>C (n.-463+16926G>C)
17g.44006646C>TCA290853184NAGS,PYYc.1033C>T (p.His345Tyr)
c.940C>T (p.His314Tyr)
n.308C>T
c.535C>T (p.His179Tyr)
c.-463+16926G>A (n.-463+16926G>A)
 dbSNP gnomAD v4
17g.44006647A>CCA399726385NAGS,PYYc.1034A>C (p.His345Pro)
c.941A>C (p.His314Pro)
n.309A>C
c.536A>C (p.His179Pro)
c.-463+16925T>G (n.-463+16925T>G)
17g.44006647A>GCA399726386NAGS,PYYc.1034A>G (p.His345Arg)
c.941A>G (p.His314Arg)
n.309A>G
c.536A>G (p.His179Arg)
c.-463+16925T>C (n.-463+16925T>C)
 gnomAD v4
17g.44006647A>TCA399726387NAGS,PYYc.1034A>T (p.His345Leu)
c.941A>T (p.His314Leu)
n.309A>T
c.536A>T (p.His179Leu)
c.-463+16925T>A (n.-463+16925T>A)
17g.44006648C>ACA399726390NAGS,PYYc.1035C>A (p.His345Gln)
c.942C>A (p.His314Gln)
n.310C>A
c.537C>A (p.His179Gln)
c.-463+16924G>T (n.-463+16924G>T)
17g.44006648C>GCA399726388NAGS,PYYc.1035C>G (p.His345Gln)
c.942C>G (p.His314Gln)
n.310C>G
c.537C>G (p.His179Gln)
c.-463+16924G>C (n.-463+16924G>C)
17g.44006648C>TCA500241168NAGS,PYYc.1035C>T (p.His345=)
c.942C>T (p.His314=)
n.310C>T
c.537C>T (p.His179=)
c.-463+16924G>A (n.-463+16924G>A)
 ClinVar gnomAD v4
17g.44006649dupCA913203446NAGS,PYYc.1036dup (p.His346ProfsTer10)
c.943dup (p.His315ProfsTer10)
n.311dup
c.538dup (p.His180ProfsTer10)
c.-463+16924dup (n.-463+16924dup)
17g.44006649C>ACA399726392NAGS,PYYc.1036C>A (p.His346Asn)
c.943C>A (p.His315Asn)
n.311C>A
c.538C>A (p.His180Asn)
c.-463+16923G>T (n.-463+16923G>T)
17g.44006649C=CA2261182236NAGS,PYYc.1036C= (p.His346=)
c.943C= (p.His315=)
n.311C=
c.538C= (p.His180=)
c.-463+16923G= (n.-463+16923G=)
17g.44006649C>GCA399726393NAGS,PYYc.1036C>G (p.His346Asp)
c.943C>G (p.His315Asp)
n.311C>G
c.538C>G (p.His180Asp)
c.-463+16923G>C (n.-463+16923G>C)
17g.44006649C>TCA399726395NAGS,PYYc.1036C>T (p.His346Tyr)
c.943C>T (p.His315Tyr)
n.311C>T
c.538C>T (p.His180Tyr)
c.-463+16923G>A (n.-463+16923G>A)
 dbSNP
17g.44006650A>CCA399726397NAGS,PYYc.1037A>C (p.His346Pro)
c.944A>C (p.His315Pro)
n.312A>C
c.539A>C (p.His180Pro)
c.-463+16922T>G (n.-463+16922T>G)
17g.44006650A>GCA399726399NAGS,PYYc.1037A>G (p.His346Arg)
c.944A>G (p.His315Arg)
n.312A>G
c.539A>G (p.His180Arg)
c.-463+16922T>C (n.-463+16922T>C)
17g.44006650A>TCA399726400NAGS,PYYc.1037A>T (p.His346Leu)
c.944A>T (p.His315Leu)
n.312A>T
c.539A>T (p.His180Leu)
c.-463+16922T>A (n.-463+16922T>A)
17g.44006650_44006683delCA2580093934NAGS,PYYc.1037_1070del (p.His346ArgfsTer?)
c.944_977del (p.His315ArgfsTer?)
n.312_345del
c.539_572del (p.His180ArgfsTer?)
c.-463+16889_-463+16922del (n.-463+16889_-463+16922del)
 ClinVar

Number of alleles fetched