Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44006538A>C | CA399726026 | NAGS,PYY | c.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) | |
17 | g.44006538A>G | CA399726025 | NAGS,PYY | c.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) | |
17 | g.44006538A>T | CA399726024 | NAGS,PYY | c.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 |
17 | g.44006539del | CA2558519688 | NAGS,PYY | c.926del (p.Asn309ThrfsTer2) c.833del (p.Asn278ThrfsTer2) n.201del c.428del (p.Asn143ThrfsTer2) c.-463+17034del (n.-463+17034del) | |
17 | g.44006539A>C | CA399726027 | NAGS,PYY | c.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) | |
17 | g.44006539A>G | CA399726028 | NAGS,PYY | c.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) | |
17 | g.44006539A>T | CA399726029 | NAGS,PYY | c.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) | |
17 | g.44006540C>A | CA399726030 | NAGS,PYY | c.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) | |
17 | g.44006540C= | CA2261182177 | NAGS,PYY | c.927C= (p.Asn309=) c.834C= (p.Asn278=) n.202C= c.429C= (p.Asn143=) c.-463+17032G= (n.-463+17032G=) | |
17 | g.44006540C>G | CA8595275 | NAGS,PYY | c.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 |
17 | g.44006540C>T | CA290853077 | NAGS,PYY | c.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 |
17 | g.44006541G>A | CA399726033 | NAGS,PYY | c.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 |
17 | g.44006541G>C | CA399726032 | NAGS,PYY | c.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) | |
17 | g.44006541G= | CA2261182178 | NAGS,PYY | c.928G= (p.Val310=) c.835G= (p.Val279=) n.203G= c.430G= (p.Val144=) c.-463+17031C= (n.-463+17031C=) | |
17 | g.44006541G>T | CA399726031 | NAGS,PYY | c.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 |
17 | g.44006542T>A | CA399726034 | NAGS,PYY | c.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) | |
17 | g.44006542T>C | CA399726035 | NAGS,PYY | c.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) | |
17 | g.44006542T>G | CA399726036 | NAGS,PYY | c.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) | |
17 | g.44006543G>A | CA500241057 | NAGS,PYY | c.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) | |
17 | g.44006543G>C | CA500241058 | NAGS,PYY | c.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) | |
17 | g.44006543G>T | CA500241059 | NAGS,PYY | c.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 |
17 | g.44006544A>C | CA399726037 | NAGS,PYY | c.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 |
17 | g.44006544A>G | CA399726038 | NAGS,PYY | c.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 |
17 | g.44006544A>T | CA399726039 | NAGS,PYY | c.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) | |
17 | g.44006545A= | CA2261182179 | NAGS,PYY | c.932A= (p.Asn311=) c.839A= (p.Asn280=) n.207A= c.434A= (p.Asn145=) c.-463+17027T= (n.-463+17027T=) | |
17 | g.44006545A>C | CA399726040 | NAGS,PYY | c.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 |
17 | g.44006545A>G | CA399726042 | NAGS,PYY | c.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) | |
17 | g.44006545A>T | CA399726041 | NAGS,PYY | c.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) | |
17 | g.44006546C>A | CA399726043 | NAGS,PYY | c.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 |
17 | g.44006546C>G | CA399726044 | NAGS,PYY | c.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) | |
17 | g.44006546C>T | CA500241060 | NAGS,PYY | c.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 |
17 | g.44006547C>A | CA399726045 | NAGS,PYY | c.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) | |
17 | g.44006547C>G | CA399726046 | NAGS,PYY | c.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) | |
17 | g.44006547C>T | CA500241063 | NAGS,PYY | c.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) | |
17 | g.44006548T>A | CA399726047 | NAGS,PYY | c.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) | |
17 | g.44006548T>C | CA8595276 | NAGS,PYY | c.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 |
17 | g.44006548T>G | CA399726048 | NAGS,PYY | c.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) | |
17 | g.44006548T= | CA2261182180 | NAGS,PYY | c.935T= (p.Leu312=) c.842T= (p.Leu281=) n.210T= c.437T= (p.Leu146=) c.-463+17024A= (n.-463+17024A=) | |
17 | g.44006549G>A | CA8595277 | NAGS,PYY | c.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 |
17 | g.44006549G>C | CA500241065 | NAGS,PYY | c.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) | |
17 | g.44006549G= | CA2261182181 | NAGS,PYY | c.936G= (p.Leu312=) c.843G= (p.Leu281=) n.211G= c.438G= (p.Leu146=) c.-463+17023C= (n.-463+17023C=) | |
17 | g.44006549G>T | CA500241066 | NAGS,PYY | c.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 |
17 | g.44006550C>A | CA399726049 | NAGS,PYY | c.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 |
17 | g.44006550C>G | CA399726050 | NAGS,PYY | c.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) | |
17 | g.44006550C>T | CA399726051 | NAGS,PYY | c.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 |
17 | g.44006551C>A | CA399726054 | NAGS,PYY | c.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 |
17 | g.44006551C>G | CA399726053 | NAGS,PYY | c.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) | |
17 | g.44006551C>T | CA399726052 | NAGS,PYY | c.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 |
17 | g.44006552C>A | CA500241067 | NAGS,PYY | c.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 |
17 | g.44006552C= | CA2261182182 | NAGS,PYY | c.939C= (p.Pro313=) c.846C= (p.Pro282=) n.214C= c.441C= (p.Pro147=) c.-463+17020G= (n.-463+17020G=) |