Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44006538A>CCA399726026NAGS,PYYc.925A>C (p.Asn309His)
c.832A>C (p.Asn278His)
n.200A>C
c.427A>C (p.Asn143His)
c.-463+17034T>G (n.-463+17034T>G)
17g.44006538A>GCA399726025NAGS,PYYc.925A>G (p.Asn309Asp)
c.832A>G (p.Asn278Asp)
n.200A>G
c.427A>G (p.Asn143Asp)
c.-463+17034T>C (n.-463+17034T>C)
17g.44006538A>TCA399726024NAGS,PYYc.925A>T (p.Asn309Tyr)
c.832A>T (p.Asn278Tyr)
n.200A>T
c.427A>T (p.Asn143Tyr)
c.-463+17034T>A (n.-463+17034T>A)
gnomAD v4
17g.44006539delCA2558519688NAGS,PYYc.926del (p.Asn309ThrfsTer2)
c.833del (p.Asn278ThrfsTer2)
n.201del
c.428del (p.Asn143ThrfsTer2)
c.-463+17034del (n.-463+17034del)
17g.44006539A>CCA399726027NAGS,PYYc.926A>C (p.Asn309Thr)
c.833A>C (p.Asn278Thr)
n.201A>C
c.428A>C (p.Asn143Thr)
c.-463+17033T>G (n.-463+17033T>G)
17g.44006539A>GCA399726028NAGS,PYYc.926A>G (p.Asn309Ser)
c.833A>G (p.Asn278Ser)
n.201A>G
c.428A>G (p.Asn143Ser)
c.-463+17033T>C (n.-463+17033T>C)
17g.44006539A>TCA399726029NAGS,PYYc.926A>T (p.Asn309Ile)
c.833A>T (p.Asn278Ile)
n.201A>T
c.428A>T (p.Asn143Ile)
c.-463+17033T>A (n.-463+17033T>A)
17g.44006540C>ACA399726030NAGS,PYYc.927C>A (p.Asn309Lys)
c.834C>A (p.Asn278Lys)
n.202C>A
c.429C>A (p.Asn143Lys)
c.-463+17032G>T (n.-463+17032G>T)
17g.44006540C=CA2261182177NAGS,PYYc.927C= (p.Asn309=)
c.834C= (p.Asn278=)
n.202C=
c.429C= (p.Asn143=)
c.-463+17032G= (n.-463+17032G=)
17g.44006540C>GCA8595275NAGS,PYYc.927C>G (p.Asn309Lys)
c.834C>G (p.Asn278Lys)
n.202C>G
c.429C>G (p.Asn143Lys)
c.-463+17032G>C (n.-463+17032G>C)
dbSNP ExAC gnomAD v3 gnomAD v4
17g.44006540C>TCA290853077NAGS,PYYc.927C>T (p.Asn309=)
c.834C>T (p.Asn278=)
n.202C>T
c.429C>T (p.Asn143=)
c.-463+17032G>A (n.-463+17032G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.44006541G>ACA399726033NAGS,PYYc.928G>A (p.Val310Met)
c.835G>A (p.Val279Met)
n.203G>A
c.430G>A (p.Val144Met)
c.-463+17031C>T (n.-463+17031C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44006541G>CCA399726032NAGS,PYYc.928G>C (p.Val310Leu)
c.835G>C (p.Val279Leu)
n.203G>C
c.430G>C (p.Val144Leu)
c.-463+17031C>G (n.-463+17031C>G)
17g.44006541G=CA2261182178NAGS,PYYc.928G= (p.Val310=)
c.835G= (p.Val279=)
n.203G=
c.430G= (p.Val144=)
c.-463+17031C= (n.-463+17031C=)
17g.44006541G>TCA399726031NAGS,PYYc.928G>T (p.Val310Leu)
c.835G>T (p.Val279Leu)
n.203G>T
c.430G>T (p.Val144Leu)
c.-463+17031C>A (n.-463+17031C>A)
gnomAD v4
17g.44006542T>ACA399726034NAGS,PYYc.929T>A (p.Val310Glu)
c.836T>A (p.Val279Glu)
n.204T>A
c.431T>A (p.Val144Glu)
c.-463+17030A>T (n.-463+17030A>T)
17g.44006542T>CCA399726035NAGS,PYYc.929T>C (p.Val310Ala)
c.836T>C (p.Val279Ala)
n.204T>C
c.431T>C (p.Val144Ala)
c.-463+17030A>G (n.-463+17030A>G)
17g.44006542T>GCA399726036NAGS,PYYc.929T>G (p.Val310Gly)
c.836T>G (p.Val279Gly)
n.204T>G
c.431T>G (p.Val144Gly)
c.-463+17030A>C (n.-463+17030A>C)
17g.44006543G>ACA500241057NAGS,PYYc.930G>A (p.Val310=)
c.837G>A (p.Val279=)
n.205G>A
c.432G>A (p.Val144=)
c.-463+17029C>T (n.-463+17029C>T)
17g.44006543G>CCA500241058NAGS,PYYc.930G>C (p.Val310=)
c.837G>C (p.Val279=)
n.205G>C
c.432G>C (p.Val144=)
c.-463+17029C>G (n.-463+17029C>G)
17g.44006543G>TCA500241059NAGS,PYYc.930G>T (p.Val310=)
c.837G>T (p.Val279=)
n.205G>T
c.432G>T (p.Val144=)
c.-463+17029C>A (n.-463+17029C>A)
gnomAD v4
17g.44006544A>CCA399726037NAGS,PYYc.931A>C (p.Asn311His)
c.838A>C (p.Asn280His)
n.206A>C
c.433A>C (p.Asn145His)
c.-463+17028T>G (n.-463+17028T>G)
gnomAD v4
17g.44006544A>GCA399726038NAGS,PYYc.931A>G (p.Asn311Asp)
c.838A>G (p.Asn280Asp)
n.206A>G
c.433A>G (p.Asn145Asp)
c.-463+17028T>C (n.-463+17028T>C)
gnomAD v4
17g.44006544A>TCA399726039NAGS,PYYc.931A>T (p.Asn311Tyr)
c.838A>T (p.Asn280Tyr)
n.206A>T
c.433A>T (p.Asn145Tyr)
c.-463+17028T>A (n.-463+17028T>A)
17g.44006545A=CA2261182179NAGS,PYYc.932A= (p.Asn311=)
c.839A= (p.Asn280=)
n.207A=
c.434A= (p.Asn145=)
c.-463+17027T= (n.-463+17027T=)
17g.44006545A>CCA399726040NAGS,PYYc.932A>C (p.Asn311Thr)
c.839A>C (p.Asn280Thr)
n.207A>C
c.434A>C (p.Asn145Thr)
c.-463+17027T>G (n.-463+17027T>G)
dbSNP
17g.44006545A>GCA399726042NAGS,PYYc.932A>G (p.Asn311Ser)
c.839A>G (p.Asn280Ser)
n.207A>G
c.434A>G (p.Asn145Ser)
c.-463+17027T>C (n.-463+17027T>C)
17g.44006545A>TCA399726041NAGS,PYYc.932A>T (p.Asn311Ile)
c.839A>T (p.Asn280Ile)
n.207A>T
c.434A>T (p.Asn145Ile)
c.-463+17027T>A (n.-463+17027T>A)
17g.44006546C>ACA399726043NAGS,PYYc.933C>A (p.Asn311Lys)
c.840C>A (p.Asn280Lys)
n.208C>A
c.435C>A (p.Asn145Lys)
c.-463+17026G>T (n.-463+17026G>T)
gnomAD v4
17g.44006546C>GCA399726044NAGS,PYYc.933C>G (p.Asn311Lys)
c.840C>G (p.Asn280Lys)
n.208C>G
c.435C>G (p.Asn145Lys)
c.-463+17026G>C (n.-463+17026G>C)
17g.44006546C>TCA500241060NAGS,PYYc.933C>T (p.Asn311=)
c.840C>T (p.Asn280=)
n.208C>T
c.435C>T (p.Asn145=)
c.-463+17026G>A (n.-463+17026G>A)
ClinVar dbSNP
17g.44006547C>ACA399726045NAGS,PYYc.934C>A (p.Leu312Met)
c.841C>A (p.Leu281Met)
n.209C>A
c.436C>A (p.Leu146Met)
c.-463+17025G>T (n.-463+17025G>T)
17g.44006547C>GCA399726046NAGS,PYYc.934C>G (p.Leu312Val)
c.841C>G (p.Leu281Val)
n.209C>G
c.436C>G (p.Leu146Val)
c.-463+17025G>C (n.-463+17025G>C)
17g.44006547C>TCA500241063NAGS,PYYc.934C>T (p.Leu312=)
c.841C>T (p.Leu281=)
n.209C>T
c.436C>T (p.Leu146=)
c.-463+17025G>A (n.-463+17025G>A)
17g.44006548T>ACA399726047NAGS,PYYc.935T>A (p.Leu312Gln)
c.842T>A (p.Leu281Gln)
n.210T>A
c.437T>A (p.Leu146Gln)
c.-463+17024A>T (n.-463+17024A>T)
17g.44006548T>CCA8595276NAGS,PYYc.935T>C (p.Leu312Pro)
c.842T>C (p.Leu281Pro)
n.210T>C
c.437T>C (p.Leu146Pro)
c.-463+17024A>G (n.-463+17024A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.44006548T>GCA399726048NAGS,PYYc.935T>G (p.Leu312Arg)
c.842T>G (p.Leu281Arg)
n.210T>G
c.437T>G (p.Leu146Arg)
c.-463+17024A>C (n.-463+17024A>C)
17g.44006548T=CA2261182180NAGS,PYYc.935T= (p.Leu312=)
c.842T= (p.Leu281=)
n.210T=
c.437T= (p.Leu146=)
c.-463+17024A= (n.-463+17024A=)
17g.44006549G>ACA8595277NAGS,PYYc.936G>A (p.Leu312=)
c.843G>A (p.Leu281=)
n.211G>A
c.438G>A (p.Leu146=)
c.-463+17023C>T (n.-463+17023C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44006549G>CCA500241065NAGS,PYYc.936G>C (p.Leu312=)
c.843G>C (p.Leu281=)
n.211G>C
c.438G>C (p.Leu146=)
c.-463+17023C>G (n.-463+17023C>G)
17g.44006549G=CA2261182181NAGS,PYYc.936G= (p.Leu312=)
c.843G= (p.Leu281=)
n.211G=
c.438G= (p.Leu146=)
c.-463+17023C= (n.-463+17023C=)
17g.44006549G>TCA500241066NAGS,PYYc.936G>T (p.Leu312=)
c.843G>T (p.Leu281=)
n.211G>T
c.438G>T (p.Leu146=)
c.-463+17023C>A (n.-463+17023C>A)
gnomAD v4
17g.44006550C>ACA399726049NAGS,PYYc.937C>A (p.Pro313Thr)
c.844C>A (p.Pro282Thr)
n.212C>A
c.439C>A (p.Pro147Thr)
c.-463+17022G>T (n.-463+17022G>T)
gnomAD v4
17g.44006550C>GCA399726050NAGS,PYYc.937C>G (p.Pro313Ala)
c.844C>G (p.Pro282Ala)
n.212C>G
c.439C>G (p.Pro147Ala)
c.-463+17022G>C (n.-463+17022G>C)
17g.44006550C>TCA399726051NAGS,PYYc.937C>T (p.Pro313Ser)
c.844C>T (p.Pro282Ser)
n.212C>T
c.439C>T (p.Pro147Ser)
c.-463+17022G>A (n.-463+17022G>A)
gnomAD v4
17g.44006551C>ACA399726054NAGS,PYYc.938C>A (p.Pro313His)
c.845C>A (p.Pro282His)
n.213C>A
c.440C>A (p.Pro147His)
c.-463+17021G>T (n.-463+17021G>T)
gnomAD v4
17g.44006551C>GCA399726053NAGS,PYYc.938C>G (p.Pro313Arg)
c.845C>G (p.Pro282Arg)
n.213C>G
c.440C>G (p.Pro147Arg)
c.-463+17021G>C (n.-463+17021G>C)
17g.44006551C>TCA399726052NAGS,PYYc.938C>T (p.Pro313Leu)
c.845C>T (p.Pro282Leu)
n.213C>T
c.440C>T (p.Pro147Leu)
c.-463+17021G>A (n.-463+17021G>A)
gnomAD v4
17g.44006552C>ACA500241067NAGS,PYYc.939C>A (p.Pro313=)
c.846C>A (p.Pro282=)
n.214C>A
c.441C>A (p.Pro147=)
c.-463+17020G>T (n.-463+17020G>T)
gnomAD v4
17g.44006552C=CA2261182182NAGS,PYYc.939C= (p.Pro313=)
c.846C= (p.Pro282=)
n.214C=
c.441C= (p.Pro147=)
c.-463+17020G= (n.-463+17020G=)

Number of alleles fetched