Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.44006621C>A | CA500241116 | NAGS,PYY | c.1008C>A (p.Ile336=) c.915C>A (p.Ile305=) n.283C>A c.510C>A (p.Ile170=) c.-463+16951G>T (n.-463+16951G>T) | |
17 | g.44006621C= | CA2261182219 | NAGS,PYY | c.1008C= (p.Ile336=) c.915C= (p.Ile305=) n.283C= c.510C= (p.Ile170=) c.-463+16951G= (n.-463+16951G=) | |
17 | g.44006621C>G | CA399726300 | NAGS,PYY | c.1008C>G (p.Ile336Met) c.915C>G (p.Ile305Met) n.283C>G c.510C>G (p.Ile170Met) c.-463+16951G>C (n.-463+16951G>C) | dbSNP |
17 | g.44006621C>T | CA500241115 | NAGS,PYY | c.1008C>T (p.Ile336=) c.915C>T (p.Ile305=) n.283C>T c.510C>T (p.Ile170=) c.-463+16951G>A (n.-463+16951G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006622G>A | CA399726302 | NAGS,PYY | c.1009G>A (p.Val337Met) c.916G>A (p.Val306Met) n.284G>A c.511G>A (p.Val171Met) c.-463+16950C>T (n.-463+16950C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006622G>C | CA399726303 | NAGS,PYY | c.1009G>C (p.Val337Leu) c.916G>C (p.Val306Leu) n.284G>C c.511G>C (p.Val171Leu) c.-463+16950C>G (n.-463+16950C>G) | |
17 | g.44006622G= | CA2261182220 | NAGS,PYY | c.1009G= (p.Val337=) c.916G= (p.Val306=) n.284G= c.511G= (p.Val171=) c.-463+16950C= (n.-463+16950C=) | |
17 | g.44006622G>T | CA399726305 | NAGS,PYY | c.1009G>T (p.Val337Leu) c.916G>T (p.Val306Leu) n.284G>T c.511G>T (p.Val171Leu) c.-463+16950C>A (n.-463+16950C>A) | gnomAD v4 COSMIC |
17 | g.44006623T>A | CA399726307 | NAGS,PYY | c.1010T>A (p.Val337Glu) c.917T>A (p.Val306Glu) n.285T>A c.512T>A (p.Val171Glu) c.-463+16949A>T (n.-463+16949A>T) | |
17 | g.44006623T>C | CA399726308 | NAGS,PYY | c.1010T>C (p.Val337Ala) c.917T>C (p.Val306Ala) n.285T>C c.512T>C (p.Val171Ala) c.-463+16949A>G (n.-463+16949A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006623T>G | CA399726310 | NAGS,PYY | c.1010T>G (p.Val337Gly) c.917T>G (p.Val306Gly) n.285T>G c.512T>G (p.Val171Gly) c.-463+16949A>C (n.-463+16949A>C) | |
17 | g.44006623T= | CA2261182221 | NAGS,PYY | c.1010T= (p.Val337=) c.917T= (p.Val306=) n.285T= c.512T= (p.Val171=) c.-463+16949A= (n.-463+16949A=) | |
17 | g.44006624G>A | CA500241117 | NAGS,PYY | c.1011G>A (p.Val337=) c.918G>A (p.Val306=) n.286G>A c.513G>A (p.Val171=) c.-463+16948C>T (n.-463+16948C>T) | |
17 | g.44006624G>C | CA500241119 | NAGS,PYY | c.1011G>C (p.Val337=) c.918G>C (p.Val306=) n.286G>C c.513G>C (p.Val171=) c.-463+16948C>G (n.-463+16948C>G) | dbSNP |
17 | g.44006624G= | CA2261182222 | NAGS,PYY | c.1011G= (p.Val337=) c.918G= (p.Val306=) n.286G= c.513G= (p.Val171=) c.-463+16948C= (n.-463+16948C=) | |
17 | g.44006624G>T | CA500241118 | NAGS,PYY | c.1011G>T (p.Val337=) c.918G>T (p.Val306=) n.286G>T c.513G>T (p.Val171=) c.-463+16948C>A (n.-463+16948C>A) | |
17 | g.44006625G>A | CA399726312 | NAGS,PYY | c.1012G>A (p.Asp338Asn) c.919G>A (p.Asp307Asn) n.287G>A c.514G>A (p.Asp172Asn) c.-463+16947C>T (n.-463+16947C>T) | |
17 | g.44006625G>C | CA399726314 | NAGS,PYY | c.1012G>C (p.Asp338His) c.919G>C (p.Asp307His) n.287G>C c.514G>C (p.Asp172His) c.-463+16947C>G (n.-463+16947C>G) | gnomAD v4 |
17 | g.44006625G>T | CA399726315 | NAGS,PYY | c.1012G>T (p.Asp338Tyr) c.919G>T (p.Asp307Tyr) n.287G>T c.514G>T (p.Asp172Tyr) c.-463+16947C>A (n.-463+16947C>A) | |
17 | g.44006626A>C | CA399726316 | NAGS,PYY | c.1013A>C (p.Asp338Ala) c.920A>C (p.Asp307Ala) n.288A>C c.515A>C (p.Asp172Ala) c.-463+16946T>G (n.-463+16946T>G) | |
17 | g.44006626A>G | CA399726320 | NAGS,PYY | c.1013A>G (p.Asp338Gly) c.920A>G (p.Asp307Gly) n.288A>G c.515A>G (p.Asp172Gly) c.-463+16946T>C (n.-463+16946T>C) | |
17 | g.44006626A>T | CA399726318 | NAGS,PYY | c.1013A>T (p.Asp338Val) c.920A>T (p.Asp307Val) n.288A>T c.515A>T (p.Asp172Val) c.-463+16946T>A (n.-463+16946T>A) | |
17 | g.44006627C>A | CA399726322 | NAGS,PYY | c.1014C>A (p.Asp338Glu) c.921C>A (p.Asp307Glu) n.289C>A c.516C>A (p.Asp172Glu) c.-463+16945G>T (n.-463+16945G>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006627C>G | CA399726323 | NAGS,PYY | c.1014C>G (p.Asp338Glu) c.921C>G (p.Asp307Glu) n.289C>G c.516C>G (p.Asp172Glu) c.-463+16945G>C (n.-463+16945G>C) | |
17 | g.44006627C>T | CA500241120 | NAGS,PYY | c.1014C>T (p.Asp338=) c.921C>T (p.Asp307=) n.289C>T c.516C>T (p.Asp172=) c.-463+16945G>A (n.-463+16945G>A) | |
17 | g.44006628G>A | CA399726324 | NAGS,PYY | c.1015G>A (p.Val339Met) c.922G>A (p.Val308Met) n.290G>A c.517G>A (p.Val173Met) c.-463+16944C>T (n.-463+16944C>T) | dbSNP gnomAD v4 |
17 | g.44006628G>C | CA399726326 | NAGS,PYY | c.1015G>C (p.Val339Leu) c.922G>C (p.Val308Leu) n.290G>C c.517G>C (p.Val173Leu) c.-463+16944C>G (n.-463+16944C>G) | |
17 | g.44006628G= | CA2261182223 | NAGS,PYY | c.1015G= (p.Val339=) c.922G= (p.Val308=) n.290G= c.517G= (p.Val173=) c.-463+16944C= (n.-463+16944C=) | |
17 | g.44006628G>T | CA8595293 | NAGS,PYY | c.1015G>T (p.Val339Leu) c.922G>T (p.Val308Leu) n.290G>T c.517G>T (p.Val173Leu) c.-463+16944C>A (n.-463+16944C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006629T>A | CA399726329 | NAGS,PYY | c.1016T>A (p.Val339Glu) c.923T>A (p.Val308Glu) n.291T>A c.518T>A (p.Val173Glu) c.-463+16943A>T (n.-463+16943A>T) | |
17 | g.44006629T>C | CA399726330 | NAGS,PYY | c.1016T>C (p.Val339Ala) c.923T>C (p.Val308Ala) n.291T>C c.518T>C (p.Val173Ala) c.-463+16943A>G (n.-463+16943A>G) | |
17 | g.44006629T>G | CA399726331 | NAGS,PYY | c.1016T>G (p.Val339Gly) c.923T>G (p.Val308Gly) n.291T>G c.518T>G (p.Val173Gly) c.-463+16943A>C (n.-463+16943A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006629T= | CA2261182224 | NAGS,PYY | c.1016T= (p.Val339=) c.923T= (p.Val308=) n.291T= c.518T= (p.Val173=) c.-463+16943A= (n.-463+16943A=) | |
17 | g.44006630G>A | CA500241121 | NAGS,PYY | c.1017G>A (p.Val339=) c.924G>A (p.Val308=) n.292G>A c.519G>A (p.Val173=) c.-463+16942C>T (n.-463+16942C>T) | gnomAD v4 |
17 | g.44006630G>C | CA500241122 | NAGS,PYY | c.1017G>C (p.Val339=) c.924G>C (p.Val308=) n.292G>C c.519G>C (p.Val173=) c.-463+16942C>G (n.-463+16942C>G) | gnomAD v4 |
17 | g.44006630G= | CA2261182225 | NAGS,PYY | c.1017G= (p.Val339=) c.924G= (p.Val308=) n.292G= c.519G= (p.Val173=) c.-463+16942C= (n.-463+16942C=) | |
17 | g.44006630G>T | CA500241123 | NAGS,PYY | c.1017G>T (p.Val339=) c.924G>T (p.Val308=) n.292G>T c.519G>T (p.Val173=) c.-463+16942C>A (n.-463+16942C>A) | dbSNP |
17 | g.44006631C>A | CA399726332 | NAGS,PYY | c.1018C>A (p.Leu340Ile) c.925C>A (p.Leu309Ile) n.293C>A c.520C>A (p.Leu174Ile) c.-463+16941G>T (n.-463+16941G>T) | |
17 | g.44006631C>G | CA399726333 | NAGS,PYY | c.1018C>G (p.Leu340Val) c.925C>G (p.Leu309Val) n.293C>G c.520C>G (p.Leu174Val) c.-463+16941G>C (n.-463+16941G>C) | |
17 | g.44006631C>T | CA399726335 | NAGS,PYY | c.1018C>T (p.Leu340Phe) c.925C>T (p.Leu309Phe) n.293C>T c.520C>T (p.Leu174Phe) c.-463+16941G>A (n.-463+16941G>A) | ClinVar dbSNP |
17 | g.44006632T>A | CA399726337 | NAGS,PYY | c.1019T>A (p.Leu340His) c.926T>A (p.Leu309His) n.294T>A c.521T>A (p.Leu174His) c.-463+16940A>T (n.-463+16940A>T) | |
17 | g.44006632T>C | CA399726338 | NAGS,PYY | c.1019T>C (p.Leu340Pro) c.926T>C (p.Leu309Pro) n.294T>C c.521T>C (p.Leu174Pro) c.-463+16940A>G (n.-463+16940A>G) | |
17 | g.44006632T>G | CA399726336 | NAGS,PYY | c.1019T>G (p.Leu340Arg) c.926T>G (p.Leu309Arg) n.294T>G c.521T>G (p.Leu174Arg) c.-463+16940A>C (n.-463+16940A>C) | |
17 | g.44006633C>A | CA500241124 | NAGS,PYY | c.1020C>A (p.Leu340=) c.927C>A (p.Leu309=) n.295C>A c.522C>A (p.Leu174=) c.-463+16939G>T (n.-463+16939G>T) | |
17 | g.44006633C>G | CA500241125 | NAGS,PYY | c.1020C>G (p.Leu340=) c.927C>G (p.Leu309=) n.295C>G c.522C>G (p.Leu174=) c.-463+16939G>C (n.-463+16939G>C) | |
17 | g.44006633C>T | CA500241126 | NAGS,PYY | c.1020C>T (p.Leu340=) c.927C>T (p.Leu309=) n.295C>T c.522C>T (p.Leu174=) c.-463+16939G>A (n.-463+16939G>A) | gnomAD v4 |
17 | g.44006634A= | CA2261182226 | NAGS,PYY | c.1021A= (p.Ser341=) c.928A= (p.Ser310=) n.296A= c.523A= (p.Ser175=) c.-463+16938T= (n.-463+16938T=) | |
17 | g.44006634A>C | CA399726340 | NAGS,PYY | c.1021A>C (p.Ser341Arg) c.928A>C (p.Ser310Arg) n.296A>C c.523A>C (p.Ser175Arg) c.-463+16938T>G (n.-463+16938T>G) | |
17 | g.44006634A>G | CA399726343 | NAGS,PYY | c.1021A>G (p.Ser341Gly) c.928A>G (p.Ser310Gly) n.296A>G c.523A>G (p.Ser175Gly) c.-463+16938T>C (n.-463+16938T>C) | |
17 | g.44006634A>T | CA8595294 | NAGS,PYY | c.1021A>T (p.Ser341Cys) c.928A>T (p.Ser310Cys) n.296A>T c.523A>T (p.Ser175Cys) c.-463+16938T>A (n.-463+16938T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006635G>A | CA399726345 | NAGS,PYY | c.1022G>A (p.Ser341Asn) c.929G>A (p.Ser310Asn) n.297G>A c.524G>A (p.Ser175Asn) c.-463+16937C>T (n.-463+16937C>T) | |
17 | g.44006635G>C | CA399726347 | NAGS,PYY | c.1022G>C (p.Ser341Thr) c.929G>C (p.Ser310Thr) n.297G>C c.524G>C (p.Ser175Thr) c.-463+16937C>G (n.-463+16937C>G) | dbSNP |
17 | g.44006635G= | CA2261182227 | NAGS,PYY | c.1022G= (p.Ser341=) c.929G= (p.Ser310=) n.297G= c.524G= (p.Ser175=) c.-463+16937C= (n.-463+16937C=) | |
17 | g.44006635G>T | CA8595295 | NAGS,PYY | c.1022G>T (p.Ser341Ile) c.929G>T (p.Ser310Ile) n.297G>T c.524G>T (p.Ser175Ile) c.-463+16937C>A (n.-463+16937C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006636C>A | CA399726349 | NAGS,PYY | c.1023C>A (p.Ser341Arg) c.930C>A (p.Ser310Arg) n.298C>A c.525C>A (p.Ser175Arg) c.-463+16936G>T (n.-463+16936G>T) | |
17 | g.44006636C>G | CA399726351 | NAGS,PYY | c.1023C>G (p.Ser341Arg) c.930C>G (p.Ser310Arg) n.298C>G c.525C>G (p.Ser175Arg) c.-463+16936G>C (n.-463+16936G>C) | |
17 | g.44006636C>T | CA500241127 | NAGS,PYY | c.1023C>T (p.Ser341=) c.930C>T (p.Ser310=) n.298C>T c.525C>T (p.Ser175=) c.-463+16936G>A (n.-463+16936G>A) | |
17 | g.44006637C>A | CA399726353 | NAGS,PYY | c.1024C>A (p.Arg342Ser) c.931C>A (p.Arg311Ser) n.299C>A c.526C>A (p.Arg176Ser) c.-463+16935G>T (n.-463+16935G>T) | |
17 | g.44006637C= | CA2261182229 | NAGS,PYY | c.1024C= (p.Arg342=) c.931C= (p.Arg311=) n.299C= c.526C= (p.Arg176=) c.-463+16935G= (n.-463+16935G=) | |
17 | g.44006637C>G | CA399726354 | NAGS,PYY | c.1024C>G (p.Arg342Gly) c.931C>G (p.Arg311Gly) n.299C>G c.526C>G (p.Arg176Gly) c.-463+16935G>C (n.-463+16935G>C) | |
17 | g.44006637C>T | CA399726355 | NAGS,PYY | c.1024C>T (p.Arg342Cys) c.931C>T (p.Arg311Cys) n.299C>T c.526C>T (p.Arg176Cys) c.-463+16935G>A (n.-463+16935G>A) | dbSNP gnomAD v4 |
17 | g.44006637_44006638delinsCG | CA2261182228 | NAGS,PYY | c.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) | |
17 | g.44006638del | CA115542 | NAGS,PYY | c.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 |
17 | g.44006638G>A | CA399726357 | NAGS,PYY | c.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 |
17 | g.44006638G>C | CA399726359 | NAGS,PYY | c.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) | |
17 | g.44006638G= | CA2261182230 | NAGS,PYY | c.1025G= (p.Arg342=) c.932G= (p.Arg311=) n.300G= c.527G= (p.Arg176=) c.-463+16934C= (n.-463+16934C=) | |
17 | g.44006638G>T | CA399726360 | NAGS,PYY | c.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) | |
17 | g.44006639C>A | CA500241129 | NAGS,PYY | c.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 |
17 | g.44006639C>G | CA500241130 | NAGS,PYY | c.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) | |
17 | g.44006639C>T | CA500241128 | NAGS,PYY | c.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) | |
17 | g.44006640C>A | CA399726363 | NAGS,PYY | c.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) | |
17 | g.44006640C>G | CA399726364 | NAGS,PYY | c.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) | |
17 | g.44006640C>T | CA500241131 | NAGS,PYY | c.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 |
17 | g.44006641T>A | CA399726366 | NAGS,PYY | c.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) | |
17 | g.44006641T>C | CA399726368 | NAGS,PYY | c.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) | |
17 | g.44006641T>G | CA399726369 | NAGS,PYY | c.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) | |
17 | g.44006642G>A | CA500241132 | NAGS,PYY | c.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 |
17 | g.44006642G>C | CA500241135 | NAGS,PYY | c.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) | |
17 | g.44006642G= | CA2261182231 | NAGS,PYY | c.1029G= (p.Leu343=) c.936G= (p.Leu312=) n.304G= c.531G= (p.Leu177=) c.-463+16930C= (n.-463+16930C=) | |
17 | g.44006642G>T | CA500241137 | NAGS,PYY | c.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 |
17 | g.44006643C>A | CA399726371 | NAGS,PYY | c.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) | |
17 | g.44006643C>G | CA399726374 | NAGS,PYY | c.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) | |
17 | g.44006643C>T | CA399726373 | NAGS,PYY | c.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) | |
17 | g.44006644C>A | CA399726375 | NAGS,PYY | c.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) | |
17 | g.44006644C>G | CA399726376 | NAGS,PYY | c.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) | |
17 | g.44006644C>T | CA399726378 | NAGS,PYY | c.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) | |
17 | g.44006644_44006647delinsCCCA | CA2261182232 | NAGS,PYY | c.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) | |
17 | g.44006645C>A | CA8595296 | NAGS,PYY | c.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 |
17 | g.44006645C= | CA2261182233 | NAGS,PYY | c.1032C= (p.Pro344=) c.939C= (p.Pro313=) n.307C= c.534C= (p.Pro178=) c.-463+16927G= (n.-463+16927G=) | |
17 | g.44006645C>G | CA500241153 | NAGS,PYY | c.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) | |
17 | g.44006645C>T | CA500241151 | NAGS,PYY | c.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 |
17 | g.44006649_44006651del | CA2261182234 | NAGS,PYY | c.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 |
17 | g.44006646C>A | CA399726381 | NAGS,PYY | c.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) | |
17 | g.44006646C= | CA2261182235 | NAGS,PYY | c.1033C= (p.His345=) c.940C= (p.His314=) n.308C= c.535C= (p.His179=) c.-463+16926G= (n.-463+16926G=) | |
17 | g.44006646C>G | CA399726382 | NAGS,PYY | c.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) | |
17 | g.44006646C>T | CA290853184 | NAGS,PYY | c.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 |
17 | g.44006647A>C | CA399726385 | NAGS,PYY | c.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) | |
17 | g.44006647A>G | CA399726386 | NAGS,PYY | c.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 |
17 | g.44006647A>T | CA399726387 | NAGS,PYY | c.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) | |
17 | g.44006648C>A | CA399726390 | NAGS,PYY | c.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) | |
17 | g.44006648C>G | CA399726388 | NAGS,PYY | c.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) | |
17 | g.44006648C>T | CA500241168 | NAGS,PYY | c.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 |
17 | g.44006649dup | CA913203446 | NAGS,PYY | c.1036dup (p.His346ProfsTer10) c.943dup (p.His315ProfsTer10) n.311dup c.538dup (p.His180ProfsTer10) c.-463+16924dup (n.-463+16924dup) | |
17 | g.44006649C>A | CA399726392 | NAGS,PYY | c.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) | |
17 | g.44006649C= | CA2261182236 | NAGS,PYY | c.1036C= (p.His346=) c.943C= (p.His315=) n.311C= c.538C= (p.His180=) c.-463+16923G= (n.-463+16923G=) | |
17 | g.44006649C>G | CA399726393 | NAGS,PYY | c.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) | |
17 | g.44006649C>T | CA399726395 | NAGS,PYY | c.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 |
17 | g.44006650A>C | CA399726397 | NAGS,PYY | c.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) | |
17 | g.44006650A>G | CA399726399 | NAGS,PYY | c.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) | |
17 | g.44006650A>T | CA399726400 | NAGS,PYY | c.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) | |
17 | g.44006650_44006683del | CA2580093934 | NAGS,PYY | c.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 |
17 | g.44006651C>A | CA399726402 | NAGS,PYY | c.1038C>A (p.His346Gln) c.945C>A (p.His315Gln) n.313C>A c.540C>A (p.His180Gln) c.-463+16921G>T (n.-463+16921G>T) | gnomAD v4 |
17 | g.44006651C= | CA2261182237 | NAGS,PYY | c.1038C= (p.His346=) c.945C= (p.His315=) n.313C= c.540C= (p.His180=) c.-463+16921G= (n.-463+16921G=) | |
17 | g.44006651C>G | CA399726404 | NAGS,PYY | c.1038C>G (p.His346Gln) c.945C>G (p.His315Gln) n.313C>G c.540C>G (p.His180Gln) c.-463+16921G>C (n.-463+16921G>C) | |
17 | g.44006651C>T | CA8595297 | NAGS,PYY | c.1038C>T (p.His346=) c.945C>T (p.His315=) n.313C>T c.540C>T (p.His180=) c.-463+16921G>A (n.-463+16921G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006652T>A | CA399726407 | NAGS,PYY | c.1039T>A (p.Ser347Thr) c.946T>A (p.Ser316Thr) n.314T>A c.541T>A (p.Ser181Thr) c.-463+16920A>T (n.-463+16920A>T) | |
17 | g.44006652T>C | CA399726408 | NAGS,PYY | c.1039T>C (p.Ser347Pro) c.946T>C (p.Ser316Pro) n.314T>C c.541T>C (p.Ser181Pro) c.-463+16920A>G (n.-463+16920A>G) | gnomAD v4 |
17 | g.44006652T>G | CA399726410 | NAGS,PYY | c.1039T>G (p.Ser347Ala) c.946T>G (p.Ser316Ala) n.314T>G c.541T>G (p.Ser181Ala) c.-463+16920A>C (n.-463+16920A>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006652T= | CA2261182238 | NAGS,PYY | c.1039T= (p.Ser347=) c.946T= (p.Ser316=) n.314T= c.541T= (p.Ser181=) c.-463+16920A= (n.-463+16920A=) | |
17 | g.44006653C>A | CA399726413 | NAGS,PYY | c.1040C>A (p.Ser347Tyr) c.947C>A (p.Ser316Tyr) n.315C>A c.542C>A (p.Ser181Tyr) c.-463+16919G>T (n.-463+16919G>T) | |
17 | g.44006653C>G | CA399726412 | NAGS,PYY | c.1040C>G (p.Ser347Cys) c.947C>G (p.Ser316Cys) n.315C>G c.542C>G (p.Ser181Cys) c.-463+16919G>C (n.-463+16919G>C) | |
17 | g.44006653C>T | CA399726411 | NAGS,PYY | c.1040C>T (p.Ser347Phe) c.947C>T (p.Ser316Phe) n.315C>T c.542C>T (p.Ser181Phe) c.-463+16919G>A (n.-463+16919G>A) | gnomAD v4 |
17 | g.44006654C>A | CA500241201 | NAGS,PYY | c.1041C>A (p.Ser347=) c.948C>A (p.Ser316=) n.316C>A c.543C>A (p.Ser181=) c.-463+16918G>T (n.-463+16918G>T) | |
17 | g.44006654C>G | CA500241197 | NAGS,PYY | c.1041C>G (p.Ser347=) c.948C>G (p.Ser316=) n.316C>G c.543C>G (p.Ser181=) c.-463+16918G>C (n.-463+16918G>C) | |
17 | g.44006654C>T | CA500241198 | NAGS,PYY | c.1041C>T (p.Ser347=) c.948C>T (p.Ser316=) n.316C>T c.543C>T (p.Ser181=) c.-463+16918G>A (n.-463+16918G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.44006655T>A | CA399726415 | NAGS,PYY | c.1042T>A (p.Ser348Thr) c.949T>A (p.Ser317Thr) n.317T>A c.544T>A (p.Ser182Thr) c.-463+16917A>T (n.-463+16917A>T) | |
17 | g.44006655T>C | CA399726417 | NAGS,PYY | c.1042T>C (p.Ser348Pro) c.949T>C (p.Ser317Pro) n.317T>C c.544T>C (p.Ser182Pro) c.-463+16917A>G (n.-463+16917A>G) | |
17 | g.44006655T>G | CA399726419 | NAGS,PYY | c.1042T>G (p.Ser348Ala) c.949T>G (p.Ser317Ala) n.317T>G c.544T>G (p.Ser182Ala) c.-463+16917A>C (n.-463+16917A>C) | |
17 | g.44006656C>A | CA399726420 | NAGS,PYY | c.1043C>A (p.Ser348Ter) c.950C>A (p.Ser317Ter) n.318C>A c.545C>A (p.Ser182Ter) c.-463+16916G>T (n.-463+16916G>T) | |
17 | g.44006656C= | CA2261182239 | NAGS,PYY | c.1043C= (p.Ser348=) c.950C= (p.Ser317=) n.318C= c.545C= (p.Ser182=) c.-463+16916G= (n.-463+16916G=) | |
17 | g.44006656C>G | CA399726421 | NAGS,PYY | c.1043C>G (p.Ser348Trp) c.950C>G (p.Ser317Trp) n.318C>G c.545C>G (p.Ser182Trp) c.-463+16916G>C (n.-463+16916G>C) | |
17 | g.44006656C>T | CA399726423 | NAGS,PYY | c.1043C>T (p.Ser348Leu) c.950C>T (p.Ser317Leu) n.318C>T c.545C>T (p.Ser182Leu) c.-463+16916G>A (n.-463+16916G>A) | dbSNP gnomAD v2 |
17 | g.44006657G>A | CA500241212 | NAGS,PYY | c.1044G>A (p.Ser348=) c.951G>A (p.Ser317=) n.319G>A c.546G>A (p.Ser182=) c.-463+16915C>T (n.-463+16915C>T) | ClinVar gnomAD v4 |
17 | g.44006657G>C | CA500241214 | NAGS,PYY | c.1044G>C (p.Ser348=) c.951G>C (p.Ser317=) n.319G>C c.546G>C (p.Ser182=) c.-463+16915C>G (n.-463+16915C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006657G= | CA2261182240 | NAGS,PYY | c.1044G= (p.Ser348=) c.951G= (p.Ser317=) n.319G= c.546G= (p.Ser182=) c.-463+16915C= (n.-463+16915C=) | |
17 | g.44006657G>T | CA500241216 | NAGS,PYY | c.1044G>T (p.Ser348=) c.951G>T (p.Ser317=) n.319G>T c.546G>T (p.Ser182=) c.-463+16915C>A (n.-463+16915C>A) | |
17 | g.44006657_44006660delinsGGCC | CA2261182241 | NAGS,PYY | c.1044_1047delinsGGCC (p.Ser348=) c.951_954delinsGGCC (p.Ser317=) n.319_322delinsGGCC c.546_549delinsGGCC (p.Ser182=) c.-463+16912_-463+16915delinsGGCC (n.-463+16912_-463+16915delinsGGCC) | |
17 | g.44006658G>A | CA399726424 | NAGS,PYY | c.1045G>A (p.Ala349Thr) c.952G>A (p.Ala318Thr) n.320G>A c.547G>A (p.Ala183Thr) c.-463+16914C>T (n.-463+16914C>T) | |
17 | g.44006658G>C | CA399726426 | NAGS,PYY | c.1045G>C (p.Ala349Pro) c.952G>C (p.Ala318Pro) n.320G>C c.547G>C (p.Ala183Pro) c.-463+16914C>G (n.-463+16914C>G) | |
17 | g.44006658G>T | CA399726427 | NAGS,PYY | c.1045G>T (p.Ala349Ser) c.952G>T (p.Ala318Ser) n.320G>T c.547G>T (p.Ala183Ser) c.-463+16914C>A (n.-463+16914C>A) | |
17 | g.44006659_44006661del | CA772278245 | NAGS,PYY | c.1046_1048del (p.Ala349del) c.953_955del (p.Ala318del) n.321_323del c.548_550del (p.Ala183del) c.-463+16912_-463+16914del (n.-463+16912_-463+16914del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44006659C>A | CA399726428 | NAGS,PYY | c.1046C>A (p.Ala349Asp) c.953C>A (p.Ala318Asp) n.321C>A c.548C>A (p.Ala183Asp) c.-463+16913G>T (n.-463+16913G>T) | |
17 | g.44006659C>G | CA399726430 | NAGS,PYY | c.1046C>G (p.Ala349Gly) c.953C>G (p.Ala318Gly) n.321C>G c.548C>G (p.Ala183Gly) c.-463+16913G>C (n.-463+16913G>C) | |
17 | g.44006659C>T | CA399726432 | NAGS,PYY | c.1046C>T (p.Ala349Val) c.953C>T (p.Ala318Val) n.321C>T c.548C>T (p.Ala183Val) c.-463+16913G>A (n.-463+16913G>A) | |
17 | g.44006660C>A | CA500241226 | NAGS,PYY | c.1047C>A (p.Ala349=) c.954C>A (p.Ala318=) n.322C>A c.549C>A (p.Ala183=) c.-463+16912G>T (n.-463+16912G>T) | gnomAD v4 |
17 | g.44006660C= | CA2261182243 | NAGS,PYY | c.1047C= (p.Ala349=) c.954C= (p.Ala318=) n.322C= c.549C= (p.Ala183=) c.-463+16912G= (n.-463+16912G=) | |
17 | g.44006660C>G | CA500241231 | NAGS,PYY | c.1047C>G (p.Ala349=) c.954C>G (p.Ala318=) n.322C>G c.549C>G (p.Ala183=) c.-463+16912G>C (n.-463+16912G>C) | dbSNP |
17 | g.44006660C>T | CA500241228 | NAGS,PYY | c.1047C>T (p.Ala349=) c.954C>T (p.Ala318=) n.322C>T c.549C>T (p.Ala183=) c.-463+16912G>A (n.-463+16912G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.44006660_44006667delinsCGTCATCA | CA2261182242 | NAGS,PYY | c.1047_1054delinsCGTCATCA (p.Ala349=) c.954_961delinsCGTCATCA (p.Ala318=) n.322_329delinsCGTCATCA c.549_556delinsCGTCATCA (p.Ala183=) c.-463+16905_-463+16912delinsTGATGACG (n.-463+16905_-463+16912delinsTGATGACG) | |
17 | g.44006661G>A | CA399726435 | NAGS,PYY | c.1048G>A (p.Val350Ile) c.955G>A (p.Val319Ile) n.323G>A c.550G>A (p.Val184Ile) c.-463+16911C>T (n.-463+16911C>T) | gnomAD v4 COSMIC |
17 | g.44006661G>C | CA399726436 | NAGS,PYY | c.1048G>C (p.Val350Leu) c.955G>C (p.Val319Leu) n.323G>C c.550G>C (p.Val184Leu) c.-463+16911C>G (n.-463+16911C>G) | |
17 | g.44006661G>T | CA399726434 | NAGS,PYY | c.1048G>T (p.Val350Phe) c.955G>T (p.Val319Phe) n.323G>T c.550G>T (p.Val184Phe) c.-463+16911C>A (n.-463+16911C>A) | gnomAD v4 |
17 | g.44006661_44006667del | CA290853191 | NAGS,PYY | c.1048_1054del (p.Val350ProfsTer?) c.955_961del (p.Val319ProfsTer?) n.323_329del c.550_556del (p.Val184ProfsTer?) c.-463+16905_-463+16911del (n.-463+16905_-463+16911del) | dbSNP |
17 | g.44006661_44006667dup | CA2261182244 | NAGS,PYY | c.1048_1054dup (p.Thr352SerfsTer6) c.955_961dup (p.Thr321SerfsTer6) n.323_329dup c.550_556dup (p.Thr186SerfsTer6) c.-463+16905_-463+16911dup (n.-463+16905_-463+16911dup) | dbSNP |
17 | g.44006662T>A | CA399726440 | NAGS,PYY | c.1049T>A (p.Val350Asp) c.956T>A (p.Val319Asp) n.324T>A c.551T>A (p.Val184Asp) c.-463+16910A>T (n.-463+16910A>T) | |
17 | g.44006662T>C | CA399726437 | NAGS,PYY | c.1049T>C (p.Val350Ala) c.956T>C (p.Val319Ala) n.324T>C c.551T>C (p.Val184Ala) c.-463+16910A>G (n.-463+16910A>G) | |
17 | g.44006662T>G | CA399726438 | NAGS,PYY | c.1049T>G (p.Val350Gly) c.956T>G (p.Val319Gly) n.324T>G c.551T>G (p.Val184Gly) c.-463+16910A>C (n.-463+16910A>C) | |
17 | g.44006662_44006668del | CA399726439 | NAGS,PYY | c.1049_1055del (p.Val350AlafsTer?) c.956_962del (p.Val319AlafsTer?) n.324_330del c.551_557del (p.Val184AlafsTer?) c.-463+16904_-463+16910del (n.-463+16904_-463+16910del) | |
17 | g.44006663C>A | CA500241243 | NAGS,PYY | c.1050C>A (p.Val350=) c.957C>A (p.Val319=) n.325C>A c.552C>A (p.Val184=) c.-463+16909G>T (n.-463+16909G>T) | |
17 | g.44006663C>G | CA500241244 | NAGS,PYY | c.1050C>G (p.Val350=) c.957C>G (p.Val319=) n.325C>G c.552C>G (p.Val184=) c.-463+16909G>C (n.-463+16909G>C) | |
17 | g.44006663C>T | CA500241245 | NAGS,PYY | c.1050C>T (p.Val350=) c.957C>T (p.Val319=) n.325C>T c.552C>T (p.Val184=) c.-463+16909G>A (n.-463+16909G>A) | |
17 | g.44006664A>C | CA399726441 | NAGS,PYY | c.1051A>C (p.Ile351Leu) c.958A>C (p.Ile320Leu) n.326A>C c.553A>C (p.Ile185Leu) c.-463+16908T>G (n.-463+16908T>G) | gnomAD v4 |
17 | g.44006664A>G | CA399726442 | NAGS,PYY | c.1051A>G (p.Ile351Val) c.958A>G (p.Ile320Val) n.326A>G c.553A>G (p.Ile185Val) c.-463+16908T>C (n.-463+16908T>C) | gnomAD v4 |
17 | g.44006664A>T | CA399726444 | NAGS,PYY | c.1051A>T (p.Ile351Phe) c.958A>T (p.Ile320Phe) n.326A>T c.553A>T (p.Ile185Phe) c.-463+16908T>A (n.-463+16908T>A) | |
17 | g.44006664_44006665del | CA2638146955 | NAGS,PYY | c.1051_1052del (p.Ile351HisfsTer4) c.958_959del (p.Ile320HisfsTer4) n.326_327del c.553_554del (p.Ile185HisfsTer4) c.-463+16907_-463+16908del (n.-463+16907_-463+16908del) | gnomAD v4 |
17 | g.44006665T>A | CA399726446 | NAGS,PYY | c.1052T>A (p.Ile351Asn) c.959T>A (p.Ile320Asn) n.327T>A c.554T>A (p.Ile185Asn) c.-463+16907A>T (n.-463+16907A>T) | |
17 | g.44006665T>C | CA399726448 | NAGS,PYY | c.1052T>C (p.Ile351Thr) c.959T>C (p.Ile320Thr) n.327T>C c.554T>C (p.Ile185Thr) c.-463+16907A>G (n.-463+16907A>G) | |
17 | g.44006665T>G | CA399726450 | NAGS,PYY | c.1052T>G (p.Ile351Ser) c.959T>G (p.Ile320Ser) n.327T>G c.554T>G (p.Ile185Ser) c.-463+16907A>C (n.-463+16907A>C) | |
17 | g.44006666C>A | CA500241248 | NAGS,PYY | c.1053C>A (p.Ile351=) c.960C>A (p.Ile320=) n.328C>A c.555C>A (p.Ile185=) c.-463+16906G>T (n.-463+16906G>T) | ClinVar gnomAD v4 |
17 | g.44006666C>G | CA399726452 | NAGS,PYY | c.1053C>G (p.Ile351Met) c.960C>G (p.Ile320Met) n.328C>G c.555C>G (p.Ile185Met) c.-463+16906G>C (n.-463+16906G>C) | |
17 | g.44006666C>T | CA500241249 | NAGS,PYY | c.1053C>T (p.Ile351=) c.960C>T (p.Ile320=) n.328C>T c.555C>T (p.Ile185=) c.-463+16906G>A (n.-463+16906G>A) | ClinVar dbSNP |
17 | g.44006667A= | CA2261182245 | NAGS,PYY | c.1054A= (p.Thr352=) c.961A= (p.Thr321=) n.329A= c.556A= (p.Thr186=) c.-463+16905T= (n.-463+16905T=) | |
17 | g.44006667A>C | CA8595298 | NAGS,PYY | c.1054A>C (p.Thr352Pro) c.961A>C (p.Thr321Pro) n.329A>C c.556A>C (p.Thr186Pro) c.-463+16905T>G (n.-463+16905T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006667A>G | CA399726454 | NAGS,PYY | c.1054A>G (p.Thr352Ala) c.961A>G (p.Thr321Ala) n.329A>G c.556A>G (p.Thr186Ala) c.-463+16905T>C (n.-463+16905T>C) | gnomAD v4 |
17 | g.44006667A>T | CA399726455 | NAGS,PYY | c.1054A>T (p.Thr352Ser) c.961A>T (p.Thr321Ser) n.329A>T c.556A>T (p.Thr186Ser) c.-463+16905T>A (n.-463+16905T>A) | |
17 | g.44006668C>A | CA399726460 | NAGS,PYY | c.1055C>A (p.Thr352Asn) c.962C>A (p.Thr321Asn) n.330C>A c.557C>A (p.Thr186Asn) c.-463+16904G>T (n.-463+16904G>T) | |
17 | g.44006668C= | CA2261182246 | NAGS,PYY | c.1055C= (p.Thr352=) c.962C= (p.Thr321=) n.330C= c.557C= (p.Thr186=) c.-463+16904G= (n.-463+16904G=) | |
17 | g.44006668C>G | CA290853208 | NAGS,PYY | c.1055C>G (p.Thr352Ser) c.962C>G (p.Thr321Ser) n.330C>G c.557C>G (p.Thr186Ser) c.-463+16904G>C (n.-463+16904G>C) | dbSNP gnomAD v4 |
17 | g.44006668C>T | CA399726458 | NAGS,PYY | c.1055C>T (p.Thr352Ile) c.962C>T (p.Thr321Ile) n.330C>T c.557C>T (p.Thr186Ile) c.-463+16904G>A (n.-463+16904G>A) | gnomAD v4 |
17 | g.44006669C>A | CA500241250 | NAGS,PYY | c.1056C>A (p.Thr352=) c.963C>A (p.Thr321=) n.331C>A c.558C>A (p.Thr186=) c.-463+16903G>T (n.-463+16903G>T) | |
17 | g.44006669C= | CA2261182247 | NAGS,PYY | c.1056C= (p.Thr352=) c.963C= (p.Thr321=) n.331C= c.558C= (p.Thr186=) c.-463+16903G= (n.-463+16903G=) | |
17 | g.44006669C>G | CA500241251 | NAGS,PYY | c.1056C>G (p.Thr352=) c.963C>G (p.Thr321=) n.331C>G c.558C>G (p.Thr186=) c.-463+16903G>C (n.-463+16903G>C) | |
17 | g.44006669C>T | CA500241252 | NAGS,PYY | c.1056C>T (p.Thr352=) c.963C>T (p.Thr321=) n.331C>T c.558C>T (p.Thr186=) c.-463+16903G>A (n.-463+16903G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006670G>A | CA399726462 | NAGS,PYY | c.1057G>A (p.Ala353Thr) c.964G>A (p.Ala322Thr) n.332G>A c.559G>A (p.Ala187Thr) c.-463+16902C>T (n.-463+16902C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006670G>C | CA399726463 | NAGS,PYY | c.1057G>C (p.Ala353Pro) c.964G>C (p.Ala322Pro) n.332G>C c.559G>C (p.Ala187Pro) c.-463+16902C>G (n.-463+16902C>G) | |
17 | g.44006670G= | CA2261182248 | NAGS,PYY | c.1057G= (p.Ala353=) c.964G= (p.Ala322=) n.332G= c.559G= (p.Ala187=) c.-463+16902C= (n.-463+16902C=) | |
17 | g.44006670G>T | CA399726465 | NAGS,PYY | c.1057G>T (p.Ala353Ser) c.964G>T (p.Ala322Ser) n.332G>T c.559G>T (p.Ala187Ser) c.-463+16902C>A (n.-463+16902C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006671C>A | CA399726467 | NAGS,PYY | c.1058C>A (p.Ala353Asp) c.965C>A (p.Ala322Asp) n.333C>A c.560C>A (p.Ala187Asp) c.-463+16901G>T (n.-463+16901G>T) | gnomAD v4 |
17 | g.44006671C= | CA2261182249 | NAGS,PYY | c.1058C= (p.Ala353=) c.965C= (p.Ala322=) n.333C= c.560C= (p.Ala187=) c.-463+16901G= (n.-463+16901G=) | |
17 | g.44006671C>G | CA399726468 | NAGS,PYY | c.1058C>G (p.Ala353Gly) c.965C>G (p.Ala322Gly) n.333C>G c.560C>G (p.Ala187Gly) c.-463+16901G>C (n.-463+16901G>C) | gnomAD v4 |
17 | g.44006671C>T | CA399726470 | NAGS,PYY | c.1058C>T (p.Ala353Val) c.965C>T (p.Ala322Val) n.333C>T c.560C>T (p.Ala187Val) c.-463+16901G>A (n.-463+16901G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006672C>A | CA500241253 | NAGS,PYY | c.1059C>A (p.Ala353=) c.966C>A (p.Ala322=) n.334C>A c.561C>A (p.Ala187=) c.-463+16900G>T (n.-463+16900G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006672C= | CA2261182250 | NAGS,PYY | c.1059C= (p.Ala353=) c.966C= (p.Ala322=) n.334C= c.561C= (p.Ala187=) c.-463+16900G= (n.-463+16900G=) | |
17 | g.44006672C>G | CA500241254 | NAGS,PYY | c.1059C>G (p.Ala353=) c.966C>G (p.Ala322=) n.334C>G c.561C>G (p.Ala187=) c.-463+16900G>C (n.-463+16900G>C) | |
17 | g.44006672C>T | CA500241255 | NAGS,PYY | c.1059C>T (p.Ala353=) c.966C>T (p.Ala322=) n.334C>T c.561C>T (p.Ala187=) c.-463+16900G>A (n.-463+16900G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.44006673G>A | CA399726471 | NAGS,PYY | c.1060G>A (p.Ala354Thr) c.967G>A (p.Ala323Thr) n.335G>A c.562G>A (p.Ala188Thr) c.-463+16899C>T (n.-463+16899C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.44006673G>C | CA399726473 | NAGS,PYY | c.1060G>C (p.Ala354Pro) c.967G>C (p.Ala323Pro) n.335G>C c.562G>C (p.Ala188Pro) c.-463+16899C>G (n.-463+16899C>G) | dbSNP gnomAD v4 |
17 | g.44006673G= | CA2261182251 | NAGS,PYY | c.1060G= (p.Ala354=) c.967G= (p.Ala323=) n.335G= c.562G= (p.Ala188=) c.-463+16899C= (n.-463+16899C=) | |
17 | g.44006673G>T | CA399726475 | NAGS,PYY | c.1060G>T (p.Ala354Ser) c.967G>T (p.Ala323Ser) n.335G>T c.562G>T (p.Ala188Ser) c.-463+16899C>A (n.-463+16899C>A) | gnomAD v4 |
17 | g.44006674C>A | CA399726477 | NAGS,PYY | c.1061C>A (p.Ala354Asp) c.968C>A (p.Ala323Asp) n.336C>A c.563C>A (p.Ala188Asp) c.-463+16898G>T (n.-463+16898G>T) | |
17 | g.44006674C>G | CA399726478 | NAGS,PYY | c.1061C>G (p.Ala354Gly) c.968C>G (p.Ala323Gly) n.336C>G c.563C>G (p.Ala188Gly) c.-463+16898G>C (n.-463+16898G>C) | |
17 | g.44006674C>T | CA399726480 | NAGS,PYY | c.1061C>T (p.Ala354Val) c.968C>T (p.Ala323Val) n.336C>T c.563C>T (p.Ala188Val) c.-463+16898G>A (n.-463+16898G>A) |