Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44006502_44006520delinsAGGCTCACCCGCTGACTCC | CA2261182159 | NAGS,PYY | c.916-27_916-9delinsAGGCTCACCCGCTGACTCC (n.916-27_916-9delinsAGGCTCACCCGCTGACTCC) c.823-27_823-9delinsAGGCTCACCCGCTGACTCC (n.823-27_823-9delinsAGGCTCACCCGCTGACTCC) n.191-27_191-9delinsAGGCTCACCCGCTGACTCC c.418-27_418-9delinsAGGCTCACCCGCTGACTCC (n.418-27_418-9delinsAGGCTCACCCGCTGACTCC) c.-463+17052_-463+17070delinsGGAGTCAGCGGGTGAGCCT (n.-463+17052_-463+17070delinsGGAGTCAGCGGGTGAGCCT) | |
17 | g.44006505_44006522del | CA2261182160 | NAGS,PYY | c.916-24_916-7del (n.916-24_916-7del) c.823-24_823-7del (n.823-24_823-7del) n.191-24_191-7del c.418-24_418-7del (n.418-24_418-7del) c.-463+17052_-463+17069del (n.-463+17052_-463+17069del) | dbSNP |
17 | g.44006520C= | CA2261182170 | NAGS,PYY | c.916-9C= (n.916-9C=) c.823-9C= (n.823-9C=) n.191-9C= c.418-9C= (n.418-9C=) c.-463+17052G= (n.-463+17052G=) | |
17 | g.44006520C>T | CA626222675 | NAGS,PYY | c.916-9C>T (n.916-9C>T) c.823-9C>T (n.823-9C>T) n.191-9C>T c.418-9C>T (n.418-9C>T) c.-463+17052G>A (n.-463+17052G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006521G>A | CA2576286562 | NAGS,PYY | c.916-8G>A (n.916-8G>A) c.823-8G>A (n.823-8G>A) n.191-8G>A c.418-8G>A (n.418-8G>A) c.-463+17051C>T (n.-463+17051C>T) | gnomAD v4 |
17 | g.44006521G>T | CA2638146914 | NAGS,PYY | c.916-8G>T (n.916-8G>T) c.823-8G>T (n.823-8G>T) n.191-8G>T c.418-8G>T (n.418-8G>T) c.-463+17051C>A (n.-463+17051C>A) | gnomAD v4 |
17 | g.44006522G>T | CA2638146915 | NAGS,PYY | c.916-7G>T (n.916-7G>T) c.823-7G>T (n.823-7G>T) n.191-7G>T c.418-7G>T (n.418-7G>T) c.-463+17050C>A (n.-463+17050C>A) | gnomAD v4 |
17 | g.44006524C>A | CA2638146916 | NAGS,PYY | c.916-5C>A (n.916-5C>A) c.823-5C>A (n.823-5C>A) n.191-5C>A c.418-5C>A (n.418-5C>A) c.-463+17048G>T (n.-463+17048G>T) | gnomAD v4 |
17 | g.44006524C>T | CA2638146917 | NAGS,PYY | c.916-5C>T (n.916-5C>T) c.823-5C>T (n.823-5C>T) n.191-5C>T c.418-5C>T (n.418-5C>T) c.-463+17048G>A (n.-463+17048G>A) | gnomAD v4 |
17 | g.44006526C= | CA2261182171 | NAGS,PYY | c.916-3C= (n.916-3C=) c.823-3C= (n.823-3C=) n.191-3C= c.418-3C= (n.418-3C=) c.-463+17046G= (n.-463+17046G=) | |
17 | g.44006526C>G | CA16620450 | NAGS,PYY | c.916-3C>G (n.916-3C>G) c.823-3C>G (n.823-3C>G) n.191-3C>G c.418-3C>G (n.418-3C>G) c.-463+17046G>C (n.-463+17046G>C) | ClinVar dbSNP |
17 | g.44006527A= | CA2261182172 | NAGS,PYY | c.916-2A= (n.916-2A=) c.823-2A= (n.823-2A=) n.191-2A= c.418-2A= (n.418-2A=) c.-463+17045T= (n.-463+17045T=) | |
17 | g.44006527A>C | CA399725991 | NAGS,PYY | c.916-2A>C (n.916-2A>C) c.823-2A>C (n.823-2A>C) n.191-2A>C c.418-2A>C (n.418-2A>C) c.-463+17045T>G (n.-463+17045T>G) | |
17 | g.44006527A>G | CA399725992 | NAGS,PYY | c.916-2A>G (n.916-2A>G) c.823-2A>G (n.823-2A>G) n.191-2A>G c.418-2A>G (n.418-2A>G) c.-463+17045T>C (n.-463+17045T>C) | gnomAD v4 |
17 | g.44006527A>T | CA115545 | NAGS,PYY | c.916-2A>T (n.916-2A>T) c.823-2A>T (n.823-2A>T) n.191-2A>T c.418-2A>T (n.418-2A>T) c.-463+17045T>A (n.-463+17045T>A) | ClinVar dbSNP gnomAD v4 |
17 | g.44006528G>A | CA399725994 | NAGS,PYY | c.916-1G>A (n.916-1G>A) c.823-1G>A (n.823-1G>A) n.191-1G>A c.418-1G>A (n.418-1G>A) c.-463+17044C>T (n.-463+17044C>T) | |
17 | g.44006528G>C | CA399725996 | NAGS,PYY | c.916-1G>C (n.916-1G>C) c.823-1G>C (n.823-1G>C) n.191-1G>C c.418-1G>C (n.418-1G>C) c.-463+17044C>G (n.-463+17044C>G) | |
17 | g.44006528G>T | CA399725998 | NAGS,PYY | c.916-1G>T (n.916-1G>T) c.823-1G>T (n.823-1G>T) n.191-1G>T c.418-1G>T (n.418-1G>T) c.-463+17044C>A (n.-463+17044C>A) | |
17 | g.44006529G>A | CA399726000 | NAGS,PYY | c.916G>A (p.Val306Ile) c.823G>A (p.Val275Ile) n.191G>A c.418G>A (p.Val140Ile) c.-463+17043C>T (n.-463+17043C>T) | |
17 | g.44006529G>C | CA8595274 | NAGS,PYY | c.916G>C (p.Val306Leu) c.823G>C (p.Val275Leu) n.191G>C c.418G>C (p.Val140Leu) c.-463+17043C>G (n.-463+17043C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006529G= | CA2261182173 | NAGS,PYY | c.916G= (p.Val306=) c.823G= (p.Val275=) n.191G= c.418G= (p.Val140=) c.-463+17043C= (n.-463+17043C=) | |
17 | g.44006529G>T | CA399726002 | NAGS,PYY | c.916G>T (p.Val306Phe) c.823G>T (p.Val275Phe) n.191G>T c.418G>T (p.Val140Phe) c.-463+17043C>A (n.-463+17043C>A) | |
17 | g.44006530T>A | CA399726004 | NAGS,PYY | c.917T>A (p.Val306Asp) c.824T>A (p.Val275Asp) n.192T>A c.419T>A (p.Val140Asp) c.-463+17042A>T (n.-463+17042A>T) | dbSNP gnomAD v4 |
17 | g.44006530T>C | CA399726006 | NAGS,PYY | c.917T>C (p.Val306Ala) c.824T>C (p.Val275Ala) n.192T>C c.419T>C (p.Val140Ala) c.-463+17042A>G (n.-463+17042A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006530T>G | CA399726007 | NAGS,PYY | c.917T>G (p.Val306Gly) c.824T>G (p.Val275Gly) n.192T>G c.419T>G (p.Val140Gly) c.-463+17042A>C (n.-463+17042A>C) | |
17 | g.44006530T= | CA2261182174 | NAGS,PYY | c.917T= (p.Val306=) c.824T= (p.Val275=) n.192T= c.419T= (p.Val140=) c.-463+17042A= (n.-463+17042A=) | |
17 | g.44006531C>A | CA500241047 | NAGS,PYY | c.918C>A (p.Val306=) c.825C>A (p.Val275=) n.193C>A c.420C>A (p.Val140=) c.-463+17041G>T (n.-463+17041G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.44006531C= | CA2261182175 | NAGS,PYY | c.918C= (p.Val306=) c.825C= (p.Val275=) n.193C= c.420C= (p.Val140=) c.-463+17041G= (n.-463+17041G=) | |
17 | g.44006531C>G | CA500241048 | NAGS,PYY | c.918C>G (p.Val306=) c.825C>G (p.Val275=) n.193C>G c.420C>G (p.Val140=) c.-463+17041G>C (n.-463+17041G>C) | |
17 | g.44006531C>T | CA500241049 | NAGS,PYY | c.918C>T (p.Val306=) c.825C>T (p.Val275=) n.193C>T c.420C>T (p.Val140=) c.-463+17041G>A (n.-463+17041G>A) | ClinVar gnomAD v4 |
17 | g.44006532C>A | CA399726009 | NAGS,PYY | c.919C>A (p.Leu307Met) c.826C>A (p.Leu276Met) n.194C>A c.421C>A (p.Leu141Met) c.-463+17040G>T (n.-463+17040G>T) | |
17 | g.44006532C>G | CA399726010 | NAGS,PYY | c.919C>G (p.Leu307Val) c.826C>G (p.Leu276Val) n.194C>G c.421C>G (p.Leu141Val) c.-463+17040G>C (n.-463+17040G>C) | |
17 | g.44006532C>T | CA500241050 | NAGS,PYY | c.919C>T (p.Leu307=) c.826C>T (p.Leu276=) n.194C>T c.421C>T (p.Leu141=) c.-463+17040G>A (n.-463+17040G>A) | |
17 | g.44006533T>A | CA399726012 | NAGS,PYY | c.920T>A (p.Leu307Gln) c.827T>A (p.Leu276Gln) n.195T>A c.422T>A (p.Leu141Gln) c.-463+17039A>T (n.-463+17039A>T) | |
17 | g.44006533T>C | CA399726014 | NAGS,PYY | c.920T>C (p.Leu307Pro) c.827T>C (p.Leu276Pro) n.195T>C c.422T>C (p.Leu141Pro) c.-463+17039A>G (n.-463+17039A>G) | |
17 | g.44006533T>G | CA399726015 | NAGS,PYY | c.920T>G (p.Leu307Arg) c.827T>G (p.Leu276Arg) n.195T>G c.422T>G (p.Leu141Arg) c.-463+17039A>C (n.-463+17039A>C) | |
17 | g.44006534G>A | CA500241052 | NAGS,PYY | c.921G>A (p.Leu307=) c.828G>A (p.Leu276=) n.196G>A c.423G>A (p.Leu141=) c.-463+17038C>T (n.-463+17038C>T) | gnomAD v4 |
17 | g.44006534G>C | CA500241054 | NAGS,PYY | c.921G>C (p.Leu307=) c.828G>C (p.Leu276=) n.196G>C c.423G>C (p.Leu141=) c.-463+17038C>G (n.-463+17038C>G) | |
17 | g.44006534G>T | CA500241053 | NAGS,PYY | c.921G>T (p.Leu307=) c.828G>T (p.Leu276=) n.196G>T c.423G>T (p.Leu141=) c.-463+17038C>A (n.-463+17038C>A) | gnomAD v4 |
17 | g.44006535A>C | CA399726016 | NAGS,PYY | c.922A>C (p.Ser308Arg) c.829A>C (p.Ser277Arg) n.197A>C c.424A>C (p.Ser142Arg) c.-463+17037T>G (n.-463+17037T>G) | |
17 | g.44006535A>G | CA399726017 | NAGS,PYY | c.922A>G (p.Ser308Gly) c.829A>G (p.Ser277Gly) n.197A>G c.424A>G (p.Ser142Gly) c.-463+17037T>C (n.-463+17037T>C) | gnomAD v4 |
17 | g.44006535A>T | CA399726018 | NAGS,PYY | c.922A>T (p.Ser308Cys) c.829A>T (p.Ser277Cys) n.197A>T c.424A>T (p.Ser142Cys) c.-463+17037T>A (n.-463+17037T>A) | |
17 | g.44006536G>A | CA399726019 | NAGS,PYY | c.923G>A (p.Ser308Asn) c.830G>A (p.Ser277Asn) n.198G>A c.425G>A (p.Ser142Asn) c.-463+17036C>T (n.-463+17036C>T) | |
17 | g.44006536G>C | CA399726020 | NAGS,PYY | c.923G>C (p.Ser308Thr) c.830G>C (p.Ser277Thr) n.198G>C c.425G>C (p.Ser142Thr) c.-463+17036C>G (n.-463+17036C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006536G= | CA2261182176 | NAGS,PYY | c.923G= (p.Ser308=) c.830G= (p.Ser277=) n.198G= c.425G= (p.Ser142=) c.-463+17036C= (n.-463+17036C=) | |
17 | g.44006536G>T | CA399726021 | NAGS,PYY | c.923G>T (p.Ser308Ile) c.830G>T (p.Ser277Ile) n.198G>T c.425G>T (p.Ser142Ile) c.-463+17036C>A (n.-463+17036C>A) | gnomAD v4 |
17 | g.44006537T>A | CA399726022 | NAGS,PYY | c.924T>A (p.Ser308Arg) c.831T>A (p.Ser277Arg) n.199T>A c.426T>A (p.Ser142Arg) c.-463+17035A>T (n.-463+17035A>T) | |
17 | g.44006537T>C | CA500241056 | NAGS,PYY | c.924T>C (p.Ser308=) c.831T>C (p.Ser277=) n.199T>C c.426T>C (p.Ser142=) c.-463+17035A>G (n.-463+17035A>G) | |
17 | g.44006537T>G | CA399726023 | NAGS,PYY | c.924T>G (p.Ser308Arg) c.831T>G (p.Ser277Arg) n.199T>G c.426T>G (p.Ser142Arg) c.-463+17035A>C (n.-463+17035A>C) | |
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=) | |
17 | g.44006552C>G | CA500241068 | NAGS,PYY | c.939C>G (p.Pro313=) c.846C>G (p.Pro282=) n.214C>G c.441C>G (p.Pro147=) c.-463+17020G>C (n.-463+17020G>C) | ClinVar gnomAD v4 |
17 | g.44006552C>T | CA8595278 | NAGS,PYY | c.939C>T (p.Pro313=) c.846C>T (p.Pro282=) n.214C>T c.441C>T (p.Pro147=) c.-463+17020G>A (n.-463+17020G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006553G>A | CA8595279 | NAGS,PYY | c.940G>A (p.Ala314Thr) c.847G>A (p.Ala283Thr) n.215G>A c.442G>A (p.Ala148Thr) c.-463+17019C>T (n.-463+17019C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006553G>C | CA399726056 | NAGS,PYY | c.940G>C (p.Ala314Pro) c.847G>C (p.Ala283Pro) n.215G>C c.442G>C (p.Ala148Pro) c.-463+17019C>G (n.-463+17019C>G) | |
17 | g.44006553G= | CA2261182183 | NAGS,PYY | c.940G= (p.Ala314=) c.847G= (p.Ala283=) n.215G= c.442G= (p.Ala148=) c.-463+17019C= (n.-463+17019C=) | |
17 | g.44006553G>T | CA399726055 | NAGS,PYY | c.940G>T (p.Ala314Ser) c.847G>T (p.Ala283Ser) n.215G>T c.442G>T (p.Ala148Ser) c.-463+17019C>A (n.-463+17019C>A) | gnomAD v4 |
17 | g.44006554C>A | CA399726057 | NAGS,PYY | c.941C>A (p.Ala314Asp) c.848C>A (p.Ala283Asp) n.216C>A c.443C>A (p.Ala148Asp) c.-463+17018G>T (n.-463+17018G>T) | |
17 | g.44006554C>G | CA399726058 | NAGS,PYY | c.941C>G (p.Ala314Gly) c.848C>G (p.Ala283Gly) n.216C>G c.443C>G (p.Ala148Gly) c.-463+17018G>C (n.-463+17018G>C) | gnomAD v4 |
17 | g.44006554C>T | CA399726059 | NAGS,PYY | c.941C>T (p.Ala314Val) c.848C>T (p.Ala283Val) n.216C>T c.443C>T (p.Ala148Val) c.-463+17018G>A (n.-463+17018G>A) | gnomAD v4 |
17 | g.44006555C>A | CA500241072 | NAGS,PYY | c.942C>A (p.Ala314=) c.849C>A (p.Ala283=) n.217C>A c.444C>A (p.Ala148=) c.-463+17017G>T (n.-463+17017G>T) | |
17 | g.44006555C= | CA2261182184 | NAGS,PYY | c.942C= (p.Ala314=) c.849C= (p.Ala283=) n.217C= c.444C= (p.Ala148=) c.-463+17017G= (n.-463+17017G=) | |
17 | g.44006555C>G | CA500241073 | NAGS,PYY | c.942C>G (p.Ala314=) c.849C>G (p.Ala283=) n.217C>G c.444C>G (p.Ala148=) c.-463+17017G>C (n.-463+17017G>C) | |
17 | g.44006555C>T | CA500241074 | NAGS,PYY | c.942C>T (p.Ala314=) c.849C>T (p.Ala283=) n.217C>T c.444C>T (p.Ala148=) c.-463+17017G>A (n.-463+17017G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006556G>A | CA8595280 | NAGS,PYY | c.943G>A (p.Asp315Asn) c.850G>A (p.Asp284Asn) n.218G>A c.445G>A (p.Asp149Asn) c.-463+17016C>T (n.-463+17016C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006556G>C | CA399726060 | NAGS,PYY | c.943G>C (p.Asp315His) c.850G>C (p.Asp284His) n.218G>C c.445G>C (p.Asp149His) c.-463+17016C>G (n.-463+17016C>G) | |
17 | g.44006556G= | CA2261182185 | NAGS,PYY | c.943G= (p.Asp315=) c.850G= (p.Asp284=) n.218G= c.445G= (p.Asp149=) c.-463+17016C= (n.-463+17016C=) | |
17 | g.44006556G>T | CA399726061 | NAGS,PYY | c.943G>T (p.Asp315Tyr) c.850G>T (p.Asp284Tyr) n.218G>T c.445G>T (p.Asp149Tyr) c.-463+17016C>A (n.-463+17016C>A) | gnomAD v4 |
17 | g.44006557A>C | CA399726062 | NAGS,PYY | c.944A>C (p.Asp315Ala) c.851A>C (p.Asp284Ala) n.219A>C c.446A>C (p.Asp149Ala) c.-463+17015T>G (n.-463+17015T>G) | |
17 | g.44006557A>G | CA399726063 | NAGS,PYY | c.944A>G (p.Asp315Gly) c.851A>G (p.Asp284Gly) n.219A>G c.446A>G (p.Asp149Gly) c.-463+17015T>C (n.-463+17015T>C) | |
17 | g.44006557A>T | CA399726064 | NAGS,PYY | c.944A>T (p.Asp315Val) c.851A>T (p.Asp284Val) n.219A>T c.446A>T (p.Asp149Val) c.-463+17015T>A (n.-463+17015T>A) | COSMIC |
17 | g.44006558C>A | CA399726065 | NAGS,PYY | c.945C>A (p.Asp315Glu) c.852C>A (p.Asp284Glu) n.220C>A c.447C>A (p.Asp149Glu) c.-463+17014G>T (n.-463+17014G>T) | gnomAD v4 |
17 | g.44006558C>G | CA399726067 | NAGS,PYY | c.945C>G (p.Asp315Glu) c.852C>G (p.Asp284Glu) n.220C>G c.447C>G (p.Asp149Glu) c.-463+17014G>C (n.-463+17014G>C) | |
17 | g.44006558C>T | CA500241075 | NAGS,PYY | c.945C>T (p.Asp315=) c.852C>T (p.Asp284=) n.220C>T c.447C>T (p.Asp149=) c.-463+17014G>A (n.-463+17014G>A) | |
17 | g.44006559C>A | CA399726069 | NAGS,PYY | c.946C>A (p.Leu316Met) c.853C>A (p.Leu285Met) n.221C>A c.448C>A (p.Leu150Met) c.-463+17013G>T (n.-463+17013G>T) | gnomAD v4 |
17 | g.44006559C>G | CA399726071 | NAGS,PYY | c.946C>G (p.Leu316Val) c.853C>G (p.Leu285Val) n.221C>G c.448C>G (p.Leu150Val) c.-463+17013G>C (n.-463+17013G>C) | |
17 | g.44006559C>T | CA500241076 | NAGS,PYY | c.946C>T (p.Leu316=) c.853C>T (p.Leu285=) n.221C>T c.448C>T (p.Leu150=) c.-463+17013G>A (n.-463+17013G>A) | |
17 | g.44006560T>A | CA399726072 | NAGS,PYY | c.947T>A (p.Leu316Gln) c.854T>A (p.Leu285Gln) n.222T>A c.449T>A (p.Leu150Gln) c.-463+17012A>T (n.-463+17012A>T) | gnomAD v4 |
17 | g.44006560T>C | CA399726077 | NAGS,PYY | c.947T>C (p.Leu316Pro) c.854T>C (p.Leu285Pro) n.222T>C c.449T>C (p.Leu150Pro) c.-463+17012A>G (n.-463+17012A>G) | gnomAD v4 |
17 | g.44006560T>G | CA399726074 | NAGS,PYY | c.947T>G (p.Leu316Arg) c.854T>G (p.Leu285Arg) n.222T>G c.449T>G (p.Leu150Arg) c.-463+17012A>C (n.-463+17012A>C) | |
17 | g.44006561G>A | CA500241077 | NAGS,PYY | c.948G>A (p.Leu316=) c.855G>A (p.Leu285=) n.223G>A c.450G>A (p.Leu150=) c.-463+17011C>T (n.-463+17011C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006561G>C | CA500241078 | NAGS,PYY | c.948G>C (p.Leu316=) c.855G>C (p.Leu285=) n.223G>C c.450G>C (p.Leu150=) c.-463+17011C>G (n.-463+17011C>G) | |
17 | g.44006561G= | CA2261182186 | NAGS,PYY | c.948G= (p.Leu316=) c.855G= (p.Leu285=) n.223G= c.450G= (p.Leu150=) c.-463+17011C= (n.-463+17011C=) | |
17 | g.44006561G>T | CA500241079 | NAGS,PYY | c.948G>T (p.Leu316=) c.855G>T (p.Leu285=) n.223G>T c.450G>T (p.Leu150=) c.-463+17011C>A (n.-463+17011C>A) | gnomAD v4 |
17 | g.44006562G>A | CA399726079 | NAGS,PYY | c.949G>A (p.Asp317Asn) c.856G>A (p.Asp286Asn) n.224G>A c.451G>A (p.Asp151Asn) c.-463+17010C>T (n.-463+17010C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006562G>C | CA399726081 | NAGS,PYY | c.949G>C (p.Asp317His) c.856G>C (p.Asp286His) n.224G>C c.451G>C (p.Asp151His) c.-463+17010C>G (n.-463+17010C>G) | |
17 | g.44006562G= | CA2261182187 | NAGS,PYY | c.949G= (p.Asp317=) c.856G= (p.Asp286=) n.224G= c.451G= (p.Asp151=) c.-463+17010C= (n.-463+17010C=) | |
17 | g.44006562G>T | CA399726083 | NAGS,PYY | c.949G>T (p.Asp317Tyr) c.856G>T (p.Asp286Tyr) n.224G>T c.451G>T (p.Asp151Tyr) c.-463+17010C>A (n.-463+17010C>A) | gnomAD v4 |
17 | g.44006563A>C | CA399726084 | NAGS,PYY | c.950A>C (p.Asp317Ala) c.857A>C (p.Asp286Ala) n.225A>C c.452A>C (p.Asp151Ala) c.-463+17009T>G (n.-463+17009T>G) | gnomAD v4 |
17 | g.44006563A>G | CA399726086 | NAGS,PYY | c.950A>G (p.Asp317Gly) c.857A>G (p.Asp286Gly) n.225A>G c.452A>G (p.Asp151Gly) c.-463+17009T>C (n.-463+17009T>C) | |
17 | g.44006563A>T | CA399726088 | NAGS,PYY | c.950A>T (p.Asp317Val) c.857A>T (p.Asp286Val) n.225A>T c.452A>T (p.Asp151Val) c.-463+17009T>A (n.-463+17009T>A) | |
17 | g.44006564C>A | CA399726090 | NAGS,PYY | c.951C>A (p.Asp317Glu) c.858C>A (p.Asp286Glu) n.226C>A c.453C>A (p.Asp151Glu) c.-463+17008G>T (n.-463+17008G>T) | |
17 | g.44006564C>G | CA399726091 | NAGS,PYY | c.951C>G (p.Asp317Glu) c.858C>G (p.Asp286Glu) n.226C>G c.453C>G (p.Asp151Glu) c.-463+17008G>C (n.-463+17008G>C) | |
17 | g.44006564C>T | CA500241080 | NAGS,PYY | c.951C>T (p.Asp317=) c.858C>T (p.Asp286=) n.226C>T c.453C>T (p.Asp151=) c.-463+17008G>A (n.-463+17008G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.44006565C>A | CA399726093 | NAGS,PYY | c.952C>A (p.Leu318Met) c.859C>A (p.Leu287Met) n.227C>A c.454C>A (p.Leu152Met) c.-463+17007G>T (n.-463+17007G>T) | gnomAD v4 |
17 | g.44006565C>G | CA399726095 | NAGS,PYY | c.952C>G (p.Leu318Val) c.859C>G (p.Leu287Val) n.227C>G c.454C>G (p.Leu152Val) c.-463+17007G>C (n.-463+17007G>C) | |
17 | g.44006565C>T | CA500241081 | NAGS,PYY | c.952C>T (p.Leu318=) c.859C>T (p.Leu287=) n.227C>T c.454C>T (p.Leu152=) c.-463+17007G>A (n.-463+17007G>A) | gnomAD v4 |
17 | g.44006566T>A | CA399726101 | NAGS,PYY | c.953T>A (p.Leu318Gln) c.860T>A (p.Leu287Gln) n.228T>A c.455T>A (p.Leu152Gln) c.-463+17006A>T (n.-463+17006A>T) | |
17 | g.44006566T>C | CA399726100 | NAGS,PYY | c.953T>C (p.Leu318Pro) c.860T>C (p.Leu287Pro) n.228T>C c.455T>C (p.Leu152Pro) c.-463+17006A>G (n.-463+17006A>G) | gnomAD v4 |
17 | g.44006566T>G | CA399726098 | NAGS,PYY | c.953T>G (p.Leu318Arg) c.860T>G (p.Leu287Arg) n.228T>G c.455T>G (p.Leu152Arg) c.-463+17006A>C (n.-463+17006A>C) | |
17 | g.44006567G>A | CA500241082 | NAGS,PYY | c.954G>A (p.Leu318=) c.861G>A (p.Leu287=) n.229G>A c.456G>A (p.Leu152=) c.-463+17005C>T (n.-463+17005C>T) | |
17 | g.44006567G>C | CA500241083 | NAGS,PYY | c.954G>C (p.Leu318=) c.861G>C (p.Leu287=) n.229G>C c.456G>C (p.Leu152=) c.-463+17005C>G (n.-463+17005C>G) | |
17 | g.44006567G>T | CA500241084 | NAGS,PYY | c.954G>T (p.Leu318=) c.861G>T (p.Leu287=) n.229G>T c.456G>T (p.Leu152=) c.-463+17005C>A (n.-463+17005C>A) | |
17 | g.44006568G>A | CA399726104 | NAGS,PYY | c.955G>A (p.Val319Met) c.862G>A (p.Val288Met) n.230G>A c.457G>A (p.Val153Met) c.-463+17004C>T (n.-463+17004C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006568G>C | CA399726105 | NAGS,PYY | c.955G>C (p.Val319Leu) c.862G>C (p.Val288Leu) n.230G>C c.457G>C (p.Val153Leu) c.-463+17004C>G (n.-463+17004C>G) | |
17 | g.44006568G= | CA2261182188 | NAGS,PYY | c.955G= (p.Val319=) c.862G= (p.Val288=) n.230G= c.457G= (p.Val153=) c.-463+17004C= (n.-463+17004C=) | |
17 | g.44006568G>T | CA399726107 | NAGS,PYY | c.955G>T (p.Val319Leu) c.862G>T (p.Val288Leu) n.230G>T c.457G>T (p.Val153Leu) c.-463+17004C>A (n.-463+17004C>A) | gnomAD v4 |
17 | g.44006569T>A | CA399726108 | NAGS,PYY | c.956T>A (p.Val319Glu) c.863T>A (p.Val288Glu) n.231T>A c.458T>A (p.Val153Glu) c.-463+17003A>T (n.-463+17003A>T) | |
17 | g.44006569T>C | CA399726109 | NAGS,PYY | c.956T>C (p.Val319Ala) c.863T>C (p.Val288Ala) n.231T>C c.458T>C (p.Val153Ala) c.-463+17003A>G (n.-463+17003A>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.44006569T>G | CA399726111 | NAGS,PYY | c.956T>G (p.Val319Gly) c.863T>G (p.Val288Gly) n.231T>G c.458T>G (p.Val153Gly) c.-463+17003A>C (n.-463+17003A>C) | |
17 | g.44006569T= | CA2261182189 | NAGS,PYY | c.956T= (p.Val319=) c.863T= (p.Val288=) n.231T= c.458T= (p.Val153=) c.-463+17003A= (n.-463+17003A=) | |
17 | g.44006570G>A | CA500241085 | NAGS,PYY | c.957G>A (p.Val319=) c.864G>A (p.Val288=) n.232G>A c.459G>A (p.Val153=) c.-463+17002C>T (n.-463+17002C>T) | ClinVar gnomAD v4 |
17 | g.44006570G>C | CA500241086 | NAGS,PYY | c.957G>C (p.Val319=) c.864G>C (p.Val288=) n.232G>C c.459G>C (p.Val153=) c.-463+17002C>G (n.-463+17002C>G) | gnomAD v4 |
17 | g.44006570G>T | CA500241087 | NAGS,PYY | c.957G>T (p.Val319=) c.864G>T (p.Val288=) n.232G>T c.459G>T (p.Val153=) c.-463+17002C>A (n.-463+17002C>A) | |
17 | g.44006570_44006571delinsGT | CA2261182190 | NAGS,PYY | c.957_958delinsGT (p.Val319=) c.864_865delinsGT (p.Val288=) n.232_233delinsGT c.459_460delinsGT (p.Val153=) c.-463+17001_-463+17002delinsAC (n.-463+17001_-463+17002delinsAC) | |
17 | g.44006571del | CA626222676 | NAGS,PYY | c.958del (p.Cys320AlafsTer6) c.865del (p.Cys289AlafsTer6) n.233del c.460del (p.Cys154AlafsTer6) c.-463+17001del (n.-463+17001del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006571T>A | CA399726116 | NAGS,PYY | c.958T>A (p.Cys320Ser) c.865T>A (p.Cys289Ser) n.233T>A c.460T>A (p.Cys154Ser) c.-463+17001A>T (n.-463+17001A>T) | |
17 | g.44006571T>C | CA399726113 | NAGS,PYY | c.958T>C (p.Cys320Arg) c.865T>C (p.Cys289Arg) n.233T>C c.460T>C (p.Cys154Arg) c.-463+17001A>G (n.-463+17001A>G) | |
17 | g.44006571T>G | CA399726115 | NAGS,PYY | c.958T>G (p.Cys320Gly) c.865T>G (p.Cys289Gly) n.233T>G c.460T>G (p.Cys154Gly) c.-463+17001A>C (n.-463+17001A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006571T= | CA2261182191 | NAGS,PYY | c.958T= (p.Cys320=) c.865T= (p.Cys289=) n.233T= c.460T= (p.Cys154=) c.-463+17001A= (n.-463+17001A=) | |
17 | g.44006572G>A | CA399726117 | NAGS,PYY | c.959G>A (p.Cys320Tyr) c.866G>A (p.Cys289Tyr) n.234G>A c.461G>A (p.Cys154Tyr) c.-463+17000C>T (n.-463+17000C>T) | gnomAD v4 |
17 | g.44006572G>C | CA290853106 | NAGS,PYY | c.959G>C (p.Cys320Ser) c.866G>C (p.Cys289Ser) n.234G>C c.461G>C (p.Cys154Ser) c.-463+17000C>G (n.-463+17000C>G) | dbSNP gnomAD v4 |
17 | g.44006572G= | CA2261182192 | NAGS,PYY | c.959G= (p.Cys320=) c.866G= (p.Cys289=) n.234G= c.461G= (p.Cys154=) c.-463+17000C= (n.-463+17000C=) | |
17 | g.44006572G>T | CA399726120 | NAGS,PYY | c.959G>T (p.Cys320Phe) c.866G>T (p.Cys289Phe) n.234G>T c.461G>T (p.Cys154Phe) c.-463+17000C>A (n.-463+17000C>A) | |
17 | g.44006573C>A | CA399726122 | NAGS,PYY | c.960C>A (p.Cys320Ter) c.867C>A (p.Cys289Ter) n.235C>A c.462C>A (p.Cys154Ter) c.-463+16999G>T (n.-463+16999G>T) | gnomAD v4 |
17 | g.44006573C>G | CA399726124 | NAGS,PYY | c.960C>G (p.Cys320Trp) c.867C>G (p.Cys289Trp) n.235C>G c.462C>G (p.Cys154Trp) c.-463+16999G>C (n.-463+16999G>C) | |
17 | g.44006573C>T | CA500241088 | NAGS,PYY | c.960C>T (p.Cys320=) c.867C>T (p.Cys289=) n.235C>T c.462C>T (p.Cys154=) c.-463+16999G>A (n.-463+16999G>A) | gnomAD v4 |
17 | g.44006574A= | CA2261182193 | NAGS,PYY | c.961A= (p.Asn321=) c.868A= (p.Asn290=) n.236A= c.463A= (p.Asn155=) c.-463+16998T= (n.-463+16998T=) | |
17 | g.44006574A>C | CA399726126 | NAGS,PYY | c.961A>C (p.Asn321His) c.868A>C (p.Asn290His) n.236A>C c.463A>C (p.Asn155His) c.-463+16998T>G (n.-463+16998T>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006574A>G | CA399726129 | NAGS,PYY | c.961A>G (p.Asn321Asp) c.868A>G (p.Asn290Asp) n.236A>G c.463A>G (p.Asn155Asp) c.-463+16998T>C (n.-463+16998T>C) | gnomAD v4 |
17 | g.44006574A>T | CA399726128 | NAGS,PYY | c.961A>T (p.Asn321Tyr) c.868A>T (p.Asn290Tyr) n.236A>T c.463A>T (p.Asn155Tyr) c.-463+16998T>A (n.-463+16998T>A) | |
17 | g.44006575A= | CA2261182194 | NAGS,PYY | c.962A= (p.Asn321=) c.869A= (p.Asn290=) n.237A= c.464A= (p.Asn155=) c.-463+16997T= (n.-463+16997T=) | |
17 | g.44006575A>C | CA399726131 | NAGS,PYY | c.962A>C (p.Asn321Thr) c.869A>C (p.Asn290Thr) n.237A>C c.464A>C (p.Asn155Thr) c.-463+16997T>G (n.-463+16997T>G) | |
17 | g.44006575A>G | CA399726133 | NAGS,PYY | c.962A>G (p.Asn321Ser) c.869A>G (p.Asn290Ser) n.237A>G c.464A>G (p.Asn155Ser) c.-463+16997T>C (n.-463+16997T>C) | dbSNP |
17 | g.44006575A>T | CA8595281 | NAGS,PYY | c.962A>T (p.Asn321Ile) c.869A>T (p.Asn290Ile) n.237A>T c.464A>T (p.Asn155Ile) c.-463+16997T>A (n.-463+16997T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006576C>A | CA399726136 | NAGS,PYY | c.963C>A (p.Asn321Lys) c.870C>A (p.Asn290Lys) n.238C>A c.465C>A (p.Asn155Lys) c.-463+16996G>T (n.-463+16996G>T) | gnomAD v4 |
17 | g.44006576C= | CA2261182195 | NAGS,PYY | c.963C= (p.Asn321=) c.870C= (p.Asn290=) n.238C= c.465C= (p.Asn155=) c.-463+16996G= (n.-463+16996G=) | |
17 | g.44006576C>G | CA399726137 | NAGS,PYY | c.963C>G (p.Asn321Lys) c.870C>G (p.Asn290Lys) n.238C>G c.465C>G (p.Asn155Lys) c.-463+16996G>C (n.-463+16996G>C) | |
17 | g.44006576C>T | CA8595282 | NAGS,PYY | c.963C>T (p.Asn321=) c.870C>T (p.Asn290=) n.238C>T c.465C>T (p.Asn155=) c.-463+16996G>A (n.-463+16996G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006577G>A | CA399726140 | NAGS,PYY | c.964G>A (p.Ala322Thr) c.871G>A (p.Ala291Thr) n.239G>A c.466G>A (p.Ala156Thr) c.-463+16995C>T (n.-463+16995C>T) | gnomAD v4 |
17 | g.44006577G>C | CA399726141 | NAGS,PYY | c.964G>C (p.Ala322Pro) c.871G>C (p.Ala291Pro) n.239G>C c.466G>C (p.Ala156Pro) c.-463+16995C>G (n.-463+16995C>G) | |
17 | g.44006577G>T | CA399726142 | NAGS,PYY | c.964G>T (p.Ala322Ser) c.871G>T (p.Ala291Ser) n.239G>T c.466G>T (p.Ala156Ser) c.-463+16995C>A (n.-463+16995C>A) | gnomAD v4 |
17 | g.44006577dup | CA2638146936 | NAGS,PYY | c.964dup (p.Ala322GlyfsTer?) c.871dup (p.Ala291GlyfsTer?) n.239dup c.466dup (p.Ala156GlyfsTer?) c.-463+16995dup (n.-463+16995dup) | gnomAD v4 |
17 | g.44006578C>A | CA399726143 | NAGS,PYY | c.965C>A (p.Ala322Asp) c.872C>A (p.Ala291Asp) n.240C>A c.467C>A (p.Ala156Asp) c.-463+16994G>T (n.-463+16994G>T) | gnomAD v4 |
17 | g.44006578C= | CA2261182196 | NAGS,PYY | c.965C= (p.Ala322=) c.872C= (p.Ala291=) n.240C= c.467C= (p.Ala156=) c.-463+16994G= (n.-463+16994G=) | |
17 | g.44006578C>G | CA399726145 | NAGS,PYY | c.965C>G (p.Ala322Gly) c.872C>G (p.Ala291Gly) n.240C>G c.467C>G (p.Ala156Gly) c.-463+16994G>C (n.-463+16994G>C) | |
17 | g.44006578C>T | CA8595283 | NAGS,PYY | c.965C>T (p.Ala322Val) c.872C>T (p.Ala291Val) n.240C>T c.467C>T (p.Ala156Val) c.-463+16994G>A (n.-463+16994G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006579C>A | CA500241089 | NAGS,PYY | c.966C>A (p.Ala322=) c.873C>A (p.Ala291=) n.241C>A c.468C>A (p.Ala156=) c.-463+16993G>T (n.-463+16993G>T) | |
17 | g.44006579C>G | CA500241090 | NAGS,PYY | c.966C>G (p.Ala322=) c.873C>G (p.Ala291=) n.241C>G c.468C>G (p.Ala156=) c.-463+16993G>C (n.-463+16993G>C) | |
17 | g.44006579C>T | CA500241091 | NAGS,PYY | c.966C>T (p.Ala322=) c.873C>T (p.Ala291=) n.241C>T c.468C>T (p.Ala156=) c.-463+16993G>A (n.-463+16993G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.44006580G>A | CA8595284 | NAGS,PYY | c.967G>A (p.Glu323Lys) c.874G>A (p.Glu292Lys) n.242G>A c.469G>A (p.Glu157Lys) c.-463+16992C>T (n.-463+16992C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006580G>C | CA399726149 | NAGS,PYY | c.967G>C (p.Glu323Gln) c.874G>C (p.Glu292Gln) n.242G>C c.469G>C (p.Glu157Gln) c.-463+16992C>G (n.-463+16992C>G) | gnomAD v4 |
17 | g.44006580G= | CA2261182197 | NAGS,PYY | c.967G= (p.Glu323=) c.874G= (p.Glu292=) n.242G= c.469G= (p.Glu157=) c.-463+16992C= (n.-463+16992C=) | |
17 | g.44006580G>T | CA399726148 | NAGS,PYY | c.967G>T (p.Glu323Ter) c.874G>T (p.Glu292Ter) n.242G>T c.469G>T (p.Glu157Ter) c.-463+16992C>A (n.-463+16992C>A) | gnomAD v4 |
17 | g.44006581A>C | CA399726152 | NAGS,PYY | c.968A>C (p.Glu323Ala) c.875A>C (p.Glu292Ala) n.243A>C c.470A>C (p.Glu157Ala) c.-463+16991T>G (n.-463+16991T>G) | |
17 | g.44006581A>G | CA399726155 | NAGS,PYY | c.968A>G (p.Glu323Gly) c.875A>G (p.Glu292Gly) n.243A>G c.470A>G (p.Glu157Gly) c.-463+16991T>C (n.-463+16991T>C) | |
17 | g.44006581A>T | CA399726154 | NAGS,PYY | c.968A>T (p.Glu323Val) c.875A>T (p.Glu292Val) n.243A>T c.470A>T (p.Glu157Val) c.-463+16991T>A (n.-463+16991T>A) | |
17 | g.44006581_44006585delinsAGTGG | CA2261182198 | NAGS,PYY | c.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) | |
17 | g.44006582G>A | CA500241092 | NAGS,PYY | c.969G>A (p.Glu323=) c.876G>A (p.Glu292=) n.244G>A c.471G>A (p.Glu157=) c.-463+16990C>T (n.-463+16990C>T) | dbSNP gnomAD v2 |
17 | g.44006582G>C | CA399726158 | NAGS,PYY | c.969G>C (p.Glu323Asp) c.876G>C (p.Glu292Asp) n.244G>C c.471G>C (p.Glu157Asp) c.-463+16990C>G (n.-463+16990C>G) | gnomAD v4 |
17 | g.44006582G= | CA2261182199 | NAGS,PYY | c.969G= (p.Glu323=) c.876G= (p.Glu292=) n.244G= c.471G= (p.Glu157=) c.-463+16990C= (n.-463+16990C=) | |
17 | g.44006582G>T | CA399726160 | NAGS,PYY | c.969G>T (p.Glu323Asp) c.876G>T (p.Glu292Asp) n.244G>T c.471G>T (p.Glu157Asp) c.-463+16990C>A (n.-463+16990C>A) | gnomAD v4 |
17 | g.44006585_44006588dup | CA8595285 | NAGS,PYY | c.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 |
17 | g.44006585_44006588del | CA8595286 | NAGS,PYY | c.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 |
17 | g.44006583T>A | CA399726162 | NAGS,PYY | c.970T>A (p.Trp324Arg) c.877T>A (p.Trp293Arg) n.245T>A c.472T>A (p.Trp158Arg) c.-463+16989A>T (n.-463+16989A>T) | |
17 | g.44006583T>C | CA399726164 | NAGS,PYY | c.970T>C (p.Trp324Arg) c.877T>C (p.Trp293Arg) n.245T>C c.472T>C (p.Trp158Arg) c.-463+16989A>G (n.-463+16989A>G) | gnomAD v4 |
17 | g.44006583T>G | CA399726165 | NAGS,PYY | c.970T>G (p.Trp324Gly) c.877T>G (p.Trp293Gly) n.245T>G c.472T>G (p.Trp158Gly) c.-463+16989A>C (n.-463+16989A>C) | gnomAD v4 |
17 | g.44006584G>A | CA115543 | NAGS,PYY | c.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 |
17 | g.44006584G>C | CA399726168 | NAGS,PYY | c.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) | |
17 | g.44006584G= | CA2261182200 | NAGS,PYY | c.971G= (p.Trp324=) c.878G= (p.Trp293=) n.246G= c.473G= (p.Trp158=) c.-463+16988C= (n.-463+16988C=) | |
17 | g.44006584G>T | CA399726170 | NAGS,PYY | c.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 |
17 | g.44006585G>A | CA399726172 | NAGS,PYY | c.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 |
17 | g.44006585G>C | CA399726173 | NAGS,PYY | c.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 |
17 | g.44006585G= | CA2261182201 | NAGS,PYY | c.972G= (p.Trp324=) c.879G= (p.Trp293=) n.247G= c.474G= (p.Trp158=) c.-463+16987C= (n.-463+16987C=) | |
17 | g.44006585G>T | CA290853133 | NAGS,PYY | c.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 |
17 | g.44006586G>A | CA399726175 | NAGS,PYY | c.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) | |
17 | g.44006586G>C | CA399726176 | NAGS,PYY | c.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) | |
17 | g.44006586G= | CA2261182202 | NAGS,PYY | c.973G= (p.Val325=) c.880G= (p.Val294=) n.248G= c.475G= (p.Val159=) c.-463+16986C= (n.-463+16986C=) | |
17 | g.44006586G>T | CA399726178 | NAGS,PYY | c.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 |
17 | g.44006587T>A | CA399726180 | NAGS,PYY | c.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 |
17 | g.44006587T>C | CA399726183 | NAGS,PYY | c.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 |
17 | g.44006587T>G | CA399726181 | NAGS,PYY | c.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 |
17 | g.44006587T= | CA2261182203 | NAGS,PYY | c.974T= (p.Val325=) c.881T= (p.Val294=) n.249T= c.476T= (p.Val159=) c.-463+16985A= (n.-463+16985A=) | |
17 | g.44006588G>A | CA8595287 | NAGS,PYY | c.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 |
17 | g.44006588G>C | CA500241093 | NAGS,PYY | c.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) | |
17 | g.44006588G= | CA2261182204 | NAGS,PYY | c.975G= (p.Val325=) c.882G= (p.Val294=) n.250G= c.477G= (p.Val159=) c.-463+16984C= (n.-463+16984C=) | |
17 | g.44006588G>T | CA500241094 | NAGS,PYY | c.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) | |
17 | g.44006589A>C | CA399726186 | NAGS,PYY | c.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) | |
17 | g.44006589A>G | CA399726188 | NAGS,PYY | c.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) | |
17 | g.44006589A>T | CA399726190 | NAGS,PYY | c.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 |
17 | g.44006590G>A | CA399726192 | NAGS,PYY | c.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 |
17 | g.44006590G>C | CA399726193 | NAGS,PYY | c.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) | |
17 | g.44006590G= | CA2261182205 | NAGS,PYY | c.977G= (p.Ser326=) c.884G= (p.Ser295=) n.252G= c.479G= (p.Ser160=) c.-463+16982C= (n.-463+16982C=) | |
17 | g.44006590G>T | CA399726194 | NAGS,PYY | c.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) | |
17 | g.44006591C>A | CA399726197 | NAGS,PYY | c.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 |
17 | g.44006591C>G | CA399726198 | NAGS,PYY | c.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) | |
17 | g.44006591C>T | CA500241095 | NAGS,PYY | c.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 |
17 | g.44006592A= | CA2261182206 | NAGS,PYY | c.979A= (p.Thr327=) c.886A= (p.Thr296=) n.254A= c.481A= (p.Thr161=) c.-463+16980T= (n.-463+16980T=) | |
17 | g.44006592A>C | CA399726203 | NAGS,PYY | c.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 |
17 | g.44006592A>G | CA399726202 | NAGS,PYY | c.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) | |
17 | g.44006592A>T | CA399726200 | NAGS,PYY | c.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) | |
17 | g.44006593C>A | CA399726205 | NAGS,PYY | c.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) | |
17 | g.44006593C>G | CA399726207 | NAGS,PYY | c.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) | |
17 | g.44006593C>T | CA399726208 | NAGS,PYY | c.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 |
17 | g.44006594A= | CA2261182207 | NAGS,PYY | c.981A= (p.Thr327=) c.888A= (p.Thr296=) n.256A= c.483A= (p.Thr161=) c.-463+16978T= (n.-463+16978T=) | |
17 | g.44006594A>C | CA500241096 | NAGS,PYY | c.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) | |
17 | g.44006594A>G | CA500241097 | NAGS,PYY | c.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) | |
17 | g.44006594A>T | CA500241098 | NAGS,PYY | c.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 |
17 | g.44006595A= | CA2261182208 | NAGS,PYY | c.982A= (p.Lys328=) c.889A= (p.Lys297=) n.257A= c.484A= (p.Lys162=) c.-463+16977T= (n.-463+16977T=) | |
17 | g.44006595A>C | CA399726210 | NAGS,PYY | c.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) | |
17 | g.44006595A>G | CA399726211 | NAGS,PYY | c.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 |
17 | g.44006595A>T | CA399726212 | NAGS,PYY | c.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) | |
17 | g.44006596A>C | CA399726215 | NAGS,PYY | c.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) | |
17 | g.44006596A>G | CA399726216 | NAGS,PYY | c.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) | |
17 | g.44006596A>T | CA399726218 | NAGS,PYY | c.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) | |
17 | g.44006597A>C | CA399726219 | NAGS,PYY | c.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 |
17 | g.44006597A>G | CA500241099 | NAGS,PYY | c.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) | |
17 | g.44006597A>T | CA399726221 | NAGS,PYY | c.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 |
17 | g.44006598G>A | CA399726225 | NAGS,PYY | c.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) | |
17 | g.44006598G>C | CA399726223 | NAGS,PYY | c.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) | |
17 | g.44006598G>T | CA399726222 | NAGS,PYY | c.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 |
17 | g.44006599A>C | CA399726226 | NAGS,PYY | c.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) | |
17 | g.44006599A>G | CA399726228 | NAGS,PYY | c.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) | |
17 | g.44006599A>T | CA399726230 | NAGS,PYY | c.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) | |
17 | g.44006600A>C | CA399726232 | NAGS,PYY | c.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) | |
17 | g.44006600A>G | CA500241100 | NAGS,PYY | c.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) | |
17 | g.44006600A>T | CA399726233 | NAGS,PYY | c.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) | |
17 | g.44006601C>A | CA500241101 | NAGS,PYY | c.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) | |
17 | g.44006601C= | CA2261182209 | NAGS,PYY | c.988C= (p.Arg330=) c.895C= (p.Arg299=) n.263C= c.490C= (p.Arg164=) c.-463+16971G= (n.-463+16971G=) | |
17 | g.44006601C>G | CA399726235 | NAGS,PYY | c.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) | |
17 | g.44006601C>T | CA8595288 | NAGS,PYY | c.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 |
17 | g.44006602G>A | CA399726238 | NAGS,PYY | c.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 |
17 | g.44006602G>C | CA399726240 | NAGS,PYY | c.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 |
17 | g.44006602G= | CA2261182210 | NAGS,PYY | c.989G= (p.Arg330=) c.896G= (p.Arg299=) n.264G= c.491G= (p.Arg164=) c.-463+16970C= (n.-463+16970C=) | |
17 | g.44006602G>T | CA399726242 | NAGS,PYY | c.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 |
17 | g.44006603G>A | CA500241102 | NAGS,PYY | c.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) | |
17 | g.44006603G>C | CA500241103 | NAGS,PYY | c.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) | |
17 | g.44006603G>T | CA500241104 | NAGS,PYY | c.990G>T (p.Arg330=) c.897G>T (p.Arg299=) n.265G>T c.492G>T (p.Arg164=) c.-463+16969C>A (n.-463+16969C>A) | gnomAD v4 |
17 | g.44006604C>A | CA399726244 | NAGS,PYY | c.991C>A (p.Gln331Lys) c.898C>A (p.Gln300Lys) n.266C>A c.493C>A (p.Gln165Lys) c.-463+16968G>T (n.-463+16968G>T) | |
17 | g.44006604C= | CA2261182211 | NAGS,PYY | c.991C= (p.Gln331=) c.898C= (p.Gln300=) n.266C= c.493C= (p.Gln165=) c.-463+16968G= (n.-463+16968G=) | |
17 | g.44006604C>G | CA399726245 | NAGS,PYY | c.991C>G (p.Gln331Glu) c.898C>G (p.Gln300Glu) n.266C>G c.493C>G (p.Gln165Glu) c.-463+16968G>C (n.-463+16968G>C) | |
17 | g.44006604C>T | CA399726246 | NAGS,PYY | c.991C>T (p.Gln331Ter) c.898C>T (p.Gln300Ter) n.266C>T c.493C>T (p.Gln165Ter) c.-463+16968G>A (n.-463+16968G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006605A>C | CA399726252 | NAGS,PYY | c.992A>C (p.Gln331Pro) c.899A>C (p.Gln300Pro) n.267A>C c.494A>C (p.Gln165Pro) c.-463+16967T>G (n.-463+16967T>G) | |
17 | g.44006605A>G | CA399726250 | NAGS,PYY | c.992A>G (p.Gln331Arg) c.899A>G (p.Gln300Arg) n.267A>G c.494A>G (p.Gln165Arg) c.-463+16967T>C (n.-463+16967T>C) | gnomAD v4 |
17 | g.44006605A>T | CA399726249 | NAGS,PYY | c.992A>T (p.Gln331Leu) c.899A>T (p.Gln300Leu) n.267A>T c.494A>T (p.Gln165Leu) c.-463+16967T>A (n.-463+16967T>A) | |
17 | g.44006606G>A | CA500241105 | NAGS,PYY | c.993G>A (p.Gln331=) c.900G>A (p.Gln300=) n.268G>A c.495G>A (p.Gln165=) c.-463+16966C>T (n.-463+16966C>T) | dbSNP gnomAD v4 |
17 | g.44006606G>C | CA399726255 | NAGS,PYY | c.993G>C (p.Gln331His) c.900G>C (p.Gln300His) n.268G>C c.495G>C (p.Gln165His) c.-463+16966C>G (n.-463+16966C>G) | |
17 | g.44006606G= | CA2261182212 | NAGS,PYY | c.993G= (p.Gln331=) c.900G= (p.Gln300=) n.268G= c.495G= (p.Gln165=) c.-463+16966C= (n.-463+16966C=) | |
17 | g.44006606G>T | CA399726253 | NAGS,PYY | c.993G>T (p.Gln331His) c.900G>T (p.Gln300His) n.268G>T c.495G>T (p.Gln165His) c.-463+16966C>A (n.-463+16966C>A) | |
17 | g.44006607C>A | CA399726257 | NAGS,PYY | c.994C>A (p.Gln332Lys) c.901C>A (p.Gln301Lys) n.269C>A c.496C>A (p.Gln166Lys) c.-463+16965G>T (n.-463+16965G>T) | gnomAD v4 |
17 | g.44006607C= | CA2261182213 | NAGS,PYY | c.994C= (p.Gln332=) c.901C= (p.Gln301=) n.269C= c.496C= (p.Gln166=) c.-463+16965G= (n.-463+16965G=) | |
17 | g.44006607C>G | CA8595289 | NAGS,PYY | c.994C>G (p.Gln332Glu) c.901C>G (p.Gln301Glu) n.269C>G c.496C>G (p.Gln166Glu) c.-463+16965G>C (n.-463+16965G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006607C>T | CA399726259 | NAGS,PYY | c.994C>T (p.Gln332Ter) c.901C>T (p.Gln301Ter) n.269C>T c.496C>T (p.Gln166Ter) c.-463+16965G>A (n.-463+16965G>A) | |
17 | g.44006608A>C | CA399726261 | NAGS,PYY | c.995A>C (p.Gln332Pro) c.902A>C (p.Gln301Pro) n.270A>C c.497A>C (p.Gln166Pro) c.-463+16964T>G (n.-463+16964T>G) | gnomAD v4 |
17 | g.44006608A>G | CA399726263 | NAGS,PYY | c.995A>G (p.Gln332Arg) c.902A>G (p.Gln301Arg) n.270A>G c.497A>G (p.Gln166Arg) c.-463+16964T>C (n.-463+16964T>C) | dbSNP |
17 | g.44006608A>T | CA399726264 | NAGS,PYY | c.995A>T (p.Gln332Leu) c.902A>T (p.Gln301Leu) n.270A>T c.497A>T (p.Gln166Leu) c.-463+16964T>A (n.-463+16964T>A) | |
17 | g.44006609G>A | CA500241106 | NAGS,PYY | c.996G>A (p.Gln332=) c.903G>A (p.Gln301=) n.271G>A c.498G>A (p.Gln166=) c.-463+16963C>T (n.-463+16963C>T) | |
17 | g.44006609G>C | CA399726266 | NAGS,PYY | c.996G>C (p.Gln332His) c.903G>C (p.Gln301His) n.271G>C c.498G>C (p.Gln166His) c.-463+16963C>G (n.-463+16963C>G) | |
17 | g.44006609G>T | CA399726265 | NAGS,PYY | c.996G>T (p.Gln332His) c.903G>T (p.Gln301His) n.271G>T c.498G>T (p.Gln166His) c.-463+16963C>A (n.-463+16963C>A) | |
17 | g.44006610A= | CA2261182214 | NAGS,PYY | c.997A= (p.Met333=) c.904A= (p.Met302=) n.272A= c.499A= (p.Met167=) c.-463+16962T= (n.-463+16962T=) | |
17 | g.44006610A>C | CA399726267 | NAGS,PYY | c.997A>C (p.Met333Leu) c.904A>C (p.Met302Leu) n.272A>C c.499A>C (p.Met167Leu) c.-463+16962T>G (n.-463+16962T>G) | |
17 | g.44006610A>G | CA399726268 | NAGS,PYY | c.997A>G (p.Met333Val) c.904A>G (p.Met302Val) n.272A>G c.499A>G (p.Met167Val) c.-463+16962T>C (n.-463+16962T>C) | |
17 | g.44006610A>T | CA399726269 | NAGS,PYY | c.997A>T (p.Met333Leu) c.904A>T (p.Met302Leu) n.272A>T c.499A>T (p.Met167Leu) c.-463+16962T>A (n.-463+16962T>A) | dbSNP |
17 | g.44006611T>A | CA399726270 | NAGS,PYY | c.998T>A (p.Met333Lys) c.905T>A (p.Met302Lys) n.273T>A c.500T>A (p.Met167Lys) c.-463+16961A>T (n.-463+16961A>T) | |
17 | g.44006611T>C | CA399726271 | NAGS,PYY | c.998T>C (p.Met333Thr) c.905T>C (p.Met302Thr) n.273T>C c.500T>C (p.Met167Thr) c.-463+16961A>G (n.-463+16961A>G) | |
17 | g.44006611T>G | CA399726272 | NAGS,PYY | c.998T>G (p.Met333Arg) c.905T>G (p.Met302Arg) n.273T>G c.500T>G (p.Met167Arg) c.-463+16961A>C (n.-463+16961A>C) | |
17 | g.44006611_44006629del | CA2739267562 | NAGS,PYY | c.998_1016del (p.Met333SerfsTer?) c.905_923del (p.Met302SerfsTer?) n.273_291del c.500_518del (p.Met167SerfsTer?) c.-463+16943_-463+16961del (n.-463+16943_-463+16961del) | ClinVar |
17 | g.44006612G>A | CA399726273 | NAGS,PYY | c.999G>A (p.Met333Ile) c.906G>A (p.Met302Ile) n.274G>A c.501G>A (p.Met167Ile) c.-463+16960C>T (n.-463+16960C>T) | |
17 | g.44006612G>C | CA399726275 | NAGS,PYY | c.999G>C (p.Met333Ile) c.906G>C (p.Met302Ile) n.274G>C c.501G>C (p.Met167Ile) c.-463+16960C>G (n.-463+16960C>G) | |
17 | g.44006612G>T | CA399726274 | NAGS,PYY | c.999G>T (p.Met333Ile) c.906G>T (p.Met302Ile) n.274G>T c.501G>T (p.Met167Ile) c.-463+16960C>A (n.-463+16960C>A) | |
17 | g.44006613C>A | CA8595290 | NAGS,PYY | c.1000C>A (p.Arg334=) c.907C>A (p.Arg303=) n.275C>A c.502C>A (p.Arg168=) c.-463+16959G>T (n.-463+16959G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006613C= | CA2261182215 | NAGS,PYY | c.1000C= (p.Arg334=) c.907C= (p.Arg303=) n.275C= c.502C= (p.Arg168=) c.-463+16959G= (n.-463+16959G=) | |
17 | g.44006613C>G | CA399726276 | NAGS,PYY | c.1000C>G (p.Arg334Gly) c.907C>G (p.Arg303Gly) n.275C>G c.502C>G (p.Arg168Gly) c.-463+16959G>C (n.-463+16959G>C) | dbSNP gnomAD v4 |
17 | g.44006613C>T | CA399726277 | NAGS,PYY | c.1000C>T (p.Arg334Trp) c.907C>T (p.Arg303Trp) n.275C>T c.502C>T (p.Arg168Trp) c.-463+16959G>A (n.-463+16959G>A) | gnomAD v4 |
17 | g.44006614G>A | CA8595291 | NAGS,PYY | c.1001G>A (p.Arg334Gln) c.908G>A (p.Arg303Gln) n.276G>A c.503G>A (p.Arg168Gln) c.-463+16958C>T (n.-463+16958C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006614G>C | CA399726278 | NAGS,PYY | c.1001G>C (p.Arg334Pro) c.908G>C (p.Arg303Pro) n.276G>C c.503G>C (p.Arg168Pro) c.-463+16958C>G (n.-463+16958C>G) | |
17 | g.44006614G= | CA2261182216 | NAGS,PYY | c.1001G= (p.Arg334=) c.908G= (p.Arg303=) n.276G= c.503G= (p.Arg168=) c.-463+16958C= (n.-463+16958C=) | |
17 | g.44006614G>T | CA399726279 | NAGS,PYY | c.1001G>T (p.Arg334Leu) c.908G>T (p.Arg303Leu) n.276G>T c.503G>T (p.Arg168Leu) c.-463+16958C>A (n.-463+16958C>A) | |
17 | g.44006615G>A | CA500241108 | NAGS,PYY | c.1002G>A (p.Arg334=) c.909G>A (p.Arg303=) n.277G>A c.504G>A (p.Arg168=) c.-463+16957C>T (n.-463+16957C>T) | gnomAD v4 |
17 | g.44006615G>C | CA500241109 | NAGS,PYY | c.1002G>C (p.Arg334=) c.909G>C (p.Arg303=) n.277G>C c.504G>C (p.Arg168=) c.-463+16957C>G (n.-463+16957C>G) | |
17 | g.44006615G>T | CA500241110 | NAGS,PYY | c.1002G>T (p.Arg334=) c.909G>T (p.Arg303=) n.277G>T c.504G>T (p.Arg168=) c.-463+16957C>A (n.-463+16957C>A) | gnomAD v4 |
17 | g.44006616C>A | CA399726282 | NAGS,PYY | c.1003C>A (p.Leu335Ile) c.910C>A (p.Leu304Ile) n.278C>A c.505C>A (p.Leu169Ile) c.-463+16956G>T (n.-463+16956G>T) | |
17 | g.44006616C= | CA2261182217 | NAGS,PYY | c.1003C= (p.Leu335=) c.910C= (p.Leu304=) n.278C= c.505C= (p.Leu169=) c.-463+16956G= (n.-463+16956G=) | |
17 | g.44006616C>G | CA399726283 | NAGS,PYY | c.1003C>G (p.Leu335Val) c.910C>G (p.Leu304Val) n.278C>G c.505C>G (p.Leu169Val) c.-463+16956G>C (n.-463+16956G>C) | |
17 | g.44006616C>T | CA8595292 | NAGS,PYY | c.1003C>T (p.Leu335Phe) c.910C>T (p.Leu304Phe) n.278C>T c.505C>T (p.Leu169Phe) c.-463+16956G>A (n.-463+16956G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006617T>A | CA399726285 | NAGS,PYY | c.1004T>A (p.Leu335His) c.911T>A (p.Leu304His) n.279T>A c.506T>A (p.Leu169His) c.-463+16955A>T (n.-463+16955A>T) | |
17 | g.44006617T>C | CA399726286 | NAGS,PYY | c.1004T>C (p.Leu335Pro) c.911T>C (p.Leu304Pro) n.279T>C c.506T>C (p.Leu169Pro) c.-463+16955A>G (n.-463+16955A>G) | |
17 | g.44006617T>G | CA399726288 | NAGS,PYY | c.1004T>G (p.Leu335Arg) c.911T>G (p.Leu304Arg) n.279T>G c.506T>G (p.Leu169Arg) c.-463+16955A>C (n.-463+16955A>C) | |
17 | g.44006618C>A | CA500241111 | NAGS,PYY | c.1005C>A (p.Leu335=) c.912C>A (p.Leu304=) n.280C>A c.507C>A (p.Leu169=) c.-463+16954G>T (n.-463+16954G>T) | |
17 | g.44006618C= | CA2261182218 | NAGS,PYY | c.1005C= (p.Leu335=) c.912C= (p.Leu304=) n.280C= c.507C= (p.Leu169=) c.-463+16954G= (n.-463+16954G=) | |
17 | g.44006618C>G | CA500241113 | NAGS,PYY | c.1005C>G (p.Leu335=) c.912C>G (p.Leu304=) n.280C>G c.507C>G (p.Leu169=) c.-463+16954G>C (n.-463+16954G>C) | |
17 | g.44006618C>T | CA500241112 | NAGS,PYY | c.1005C>T (p.Leu335=) c.912C>T (p.Leu304=) n.280C>T c.507C>T (p.Leu169=) c.-463+16954G>A (n.-463+16954G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006619A>C | CA399726290 | NAGS,PYY | c.1006A>C (p.Ile336Leu) c.913A>C (p.Ile305Leu) n.281A>C c.508A>C (p.Ile170Leu) c.-463+16953T>G (n.-463+16953T>G) | |
17 | g.44006619A>G | CA399726293 | NAGS,PYY | c.1006A>G (p.Ile336Val) c.913A>G (p.Ile305Val) n.281A>G c.508A>G (p.Ile170Val) c.-463+16953T>C (n.-463+16953T>C) | |
17 | g.44006619A>T | CA399726292 | NAGS,PYY | c.1006A>T (p.Ile336Phe) c.913A>T (p.Ile305Phe) n.281A>T c.508A>T (p.Ile170Phe) c.-463+16953T>A (n.-463+16953T>A) | gnomAD v4 |
17 | g.44006620T>A | CA399726295 | NAGS,PYY | c.1007T>A (p.Ile336Asn) c.914T>A (p.Ile305Asn) n.282T>A c.509T>A (p.Ile170Asn) c.-463+16952A>T (n.-463+16952A>T) | |
17 | g.44006620T>C | CA399726296 | NAGS,PYY | c.1007T>C (p.Ile336Thr) c.914T>C (p.Ile305Thr) n.282T>C c.509T>C (p.Ile170Thr) c.-463+16952A>G (n.-463+16952A>G) | |
17 | g.44006620T>G | CA399726298 | NAGS,PYY | c.1007T>G (p.Ile336Ser) c.914T>G (p.Ile305Ser) n.282T>G c.509T>G (p.Ile170Ser) c.-463+16952A>C (n.-463+16952A>C) |