Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
17 | g.44006675T>A | CA500241257 | NAGS,PYY | c.1062T>A (p.Ala354=) c.969T>A (p.Ala323=) n.337T>A c.564T>A (p.Ala188=) c.-463+16897A>T (n.-463+16897A>T) | |
17 | g.44006675T>C | CA8595299 | NAGS,PYY | c.1062T>C (p.Ala354=) c.969T>C (p.Ala323=) n.337T>C c.564T>C (p.Ala188=) c.-463+16897A>G (n.-463+16897A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006675T>G | CA500241256 | NAGS,PYY | c.1062T>G (p.Ala354=) c.969T>G (p.Ala323=) n.337T>G c.564T>G (p.Ala188=) c.-463+16897A>C (n.-463+16897A>C) | gnomAD v4 |
17 | g.44006675T= | CA2261182252 | NAGS,PYY | c.1062T= (p.Ala354=) c.969T= (p.Ala323=) n.337T= c.564T= (p.Ala188=) c.-463+16897A= (n.-463+16897A=) | |
17 | g.44006676A>C | CA399726486 | NAGS,PYY | c.1063A>C (p.Ser355Arg) c.970A>C (p.Ser324Arg) n.338A>C c.565A>C (p.Ser189Arg) c.-463+16896T>G (n.-463+16896T>G) | |
17 | g.44006676A>G | CA399726482 | NAGS,PYY | c.1063A>G (p.Ser355Gly) c.970A>G (p.Ser324Gly) n.338A>G c.565A>G (p.Ser189Gly) c.-463+16896T>C (n.-463+16896T>C) | gnomAD v4 |
17 | g.44006676A>T | CA399726484 | NAGS,PYY | c.1063A>T (p.Ser355Cys) c.970A>T (p.Ser324Cys) n.338A>T c.565A>T (p.Ser189Cys) c.-463+16896T>A (n.-463+16896T>A) | |
17 | g.44006677G>A | CA399726487 | NAGS,PYY | c.1064G>A (p.Ser355Asn) c.971G>A (p.Ser324Asn) n.339G>A c.566G>A (p.Ser189Asn) c.-463+16895C>T (n.-463+16895C>T) | |
17 | g.44006677G>C | CA399726489 | NAGS,PYY | c.1064G>C (p.Ser355Thr) c.971G>C (p.Ser324Thr) n.339G>C c.566G>C (p.Ser189Thr) c.-463+16895C>G (n.-463+16895C>G) | |
17 | g.44006677G>T | CA399726490 | NAGS,PYY | c.1064G>T (p.Ser355Ile) c.971G>T (p.Ser324Ile) n.339G>T c.566G>T (p.Ser189Ile) c.-463+16895C>A (n.-463+16895C>A) | |
17 | g.44006678C>A | CA399726492 | NAGS,PYY | c.1065C>A (p.Ser355Arg) c.972C>A (p.Ser324Arg) n.340C>A c.567C>A (p.Ser189Arg) c.-463+16894G>T (n.-463+16894G>T) | |
17 | g.44006678C>G | CA399726494 | NAGS,PYY | c.1065C>G (p.Ser355Arg) c.972C>G (p.Ser324Arg) n.340C>G c.567C>G (p.Ser189Arg) c.-463+16894G>C (n.-463+16894G>C) | |
17 | g.44006678C>T | CA500241258 | NAGS,PYY | c.1065C>T (p.Ser355=) c.972C>T (p.Ser324=) n.340C>T c.567C>T (p.Ser189=) c.-463+16894G>A (n.-463+16894G>A) | |
17 | g.44006679A>C | CA399726496 | NAGS,PYY | c.1066A>C (p.Thr356Pro) c.973A>C (p.Thr325Pro) n.341A>C c.568A>C (p.Thr190Pro) c.-463+16893T>G (n.-463+16893T>G) | |
17 | g.44006679A>G | CA399726497 | NAGS,PYY | c.1066A>G (p.Thr356Ala) c.973A>G (p.Thr325Ala) n.341A>G c.568A>G (p.Thr190Ala) c.-463+16893T>C (n.-463+16893T>C) | dbSNP |
17 | g.44006679A>T | CA399726499 | NAGS,PYY | c.1066A>T (p.Thr356Ser) c.973A>T (p.Thr325Ser) n.341A>T c.568A>T (p.Thr190Ser) c.-463+16893T>A (n.-463+16893T>A) | |
17 | g.44006680C>A | CA399726500 | NAGS,PYY | c.1067C>A (p.Thr356Lys) c.974C>A (p.Thr325Lys) n.342C>A c.569C>A (p.Thr190Lys) c.-463+16892G>T (n.-463+16892G>T) | |
17 | g.44006680C= | CA2261182253 | NAGS,PYY | c.1067C= (p.Thr356=) c.974C= (p.Thr325=) n.342C= c.569C= (p.Thr190=) c.-463+16892G= (n.-463+16892G=) | |
17 | g.44006680C>G | CA399726501 | NAGS,PYY | c.1067C>G (p.Thr356Arg) c.974C>G (p.Thr325Arg) n.342C>G c.569C>G (p.Thr190Arg) c.-463+16892G>C (n.-463+16892G>C) | |
17 | g.44006680C>T | CA8595300 | NAGS,PYY | c.1067C>T (p.Thr356Met) c.974C>T (p.Thr325Met) n.342C>T c.569C>T (p.Thr190Met) c.-463+16892G>A (n.-463+16892G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44006681G>A | CA500241259 | NAGS,PYY | c.1068G>A (p.Thr356=) c.975G>A (p.Thr325=) n.343G>A c.570G>A (p.Thr190=) c.-463+16891C>T (n.-463+16891C>T) | |
17 | g.44006681G>C | CA500241260 | NAGS,PYY | c.1068G>C (p.Thr356=) c.975G>C (p.Thr325=) n.343G>C c.570G>C (p.Thr190=) c.-463+16891C>G (n.-463+16891C>G) | |
17 | g.44006681G= | CA2261182254 | NAGS,PYY | c.1068G= (p.Thr356=) c.975G= (p.Thr325=) n.343G= c.570G= (p.Thr190=) c.-463+16891C= (n.-463+16891C=) | |
17 | g.44006681G>T | CA500241261 | NAGS,PYY | c.1068G>T (p.Thr356=) c.975G>T (p.Thr325=) n.343G>T c.570G>T (p.Thr190=) c.-463+16891C>A (n.-463+16891C>A) | dbSNP |
17 | g.44006682C>A | CA399726504 | NAGS,PYY | c.1069C>A (p.Leu357Met) c.976C>A (p.Leu326Met) n.344C>A c.571C>A (p.Leu191Met) c.-463+16890G>T (n.-463+16890G>T) | |
17 | g.44006682C= | CA2261182255 | NAGS,PYY | c.1069C= (p.Leu357=) c.976C= (p.Leu326=) n.344C= c.571C= (p.Leu191=) c.-463+16890G= (n.-463+16890G=) | |
17 | g.44006682C>G | CA8595301 | NAGS,PYY | c.1069C>G (p.Leu357Val) c.976C>G (p.Leu326Val) n.344C>G c.571C>G (p.Leu191Val) c.-463+16890G>C (n.-463+16890G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006682C>T | CA500241262 | NAGS,PYY | c.1069C>T (p.Leu357=) c.976C>T (p.Leu326=) n.344C>T c.571C>T (p.Leu191=) c.-463+16890G>A (n.-463+16890G>A) | |
17 | g.44006683T>A | CA399726505 | NAGS,PYY | c.1070T>A (p.Leu357Gln) c.977T>A (p.Leu326Gln) n.345T>A c.572T>A (p.Leu191Gln) c.-463+16889A>T (n.-463+16889A>T) | |
17 | g.44006683T>C | CA399726506 | NAGS,PYY | c.1070T>C (p.Leu357Pro) c.977T>C (p.Leu326Pro) n.345T>C c.572T>C (p.Leu191Pro) c.-463+16889A>G (n.-463+16889A>G) | |
17 | g.44006683T>G | CA399726507 | NAGS,PYY | c.1070T>G (p.Leu357Arg) c.977T>G (p.Leu326Arg) n.345T>G c.572T>G (p.Leu191Arg) c.-463+16889A>C (n.-463+16889A>C) | |
17 | g.44006684G>A | CA500241263 | NAGS,PYY | c.1071G>A (p.Leu357=) c.978G>A (p.Leu326=) n.346G>A c.573G>A (p.Leu191=) c.-463+16888C>T (n.-463+16888C>T) | gnomAD v4 |
17 | g.44006684G>C | CA500241264 | NAGS,PYY | c.1071G>C (p.Leu357=) c.978G>C (p.Leu326=) n.346G>C c.573G>C (p.Leu191=) c.-463+16888C>G (n.-463+16888C>G) | |
17 | g.44006684G>T | CA500241265 | NAGS,PYY | c.1071G>T (p.Leu357=) c.978G>T (p.Leu326=) n.346G>T c.573G>T (p.Leu191=) c.-463+16888C>A (n.-463+16888C>A) | |
17 | g.44006685C>A | CA399726509 | NAGS,PYY | c.1072C>A (p.Leu358Ile) c.979C>A (p.Leu327Ile) n.347C>A c.574C>A (p.Leu192Ile) c.-463+16887G>T (n.-463+16887G>T) | |
17 | g.44006685C>G | CA399726511 | NAGS,PYY | c.1072C>G (p.Leu358Val) c.979C>G (p.Leu327Val) n.347C>G c.574C>G (p.Leu192Val) c.-463+16887G>C (n.-463+16887G>C) | |
17 | g.44006685C>T | CA399726513 | NAGS,PYY | c.1072C>T (p.Leu358Phe) c.979C>T (p.Leu327Phe) n.347C>T c.574C>T (p.Leu192Phe) c.-463+16887G>A (n.-463+16887G>A) | |
17 | g.44006686T>A | CA399726514 | NAGS,PYY | c.1073T>A (p.Leu358His) c.980T>A (p.Leu327His) n.348T>A c.575T>A (p.Leu192His) c.-463+16886A>T (n.-463+16886A>T) | |
17 | g.44006686T>C | CA399726515 | NAGS,PYY | c.1073T>C (p.Leu358Pro) c.980T>C (p.Leu327Pro) n.348T>C c.575T>C (p.Leu192Pro) c.-463+16886A>G (n.-463+16886A>G) | dbSNP |
17 | g.44006686T>G | CA399726517 | NAGS,PYY | c.1073T>G (p.Leu358Arg) c.980T>G (p.Leu327Arg) n.348T>G c.575T>G (p.Leu192Arg) c.-463+16886A>C (n.-463+16886A>C) | |
17 | g.44006687C>A | CA500241267 | NAGS,PYY | c.1074C>A (p.Leu358=) c.981C>A (p.Leu327=) n.349C>A c.576C>A (p.Leu192=) c.-463+16885G>T (n.-463+16885G>T) | gnomAD v4 |
17 | g.44006687C>G | CA500241268 | NAGS,PYY | c.1074C>G (p.Leu358=) c.981C>G (p.Leu327=) n.349C>G c.576C>G (p.Leu192=) c.-463+16885G>C (n.-463+16885G>C) | |
17 | g.44006687C>T | CA500241269 | NAGS,PYY | c.1074C>T (p.Leu358=) c.981C>T (p.Leu327=) n.349C>T c.576C>T (p.Leu192=) c.-463+16885G>A (n.-463+16885G>A) | ClinVar dbSNP |
17 | g.44006688A>C | CA399726519 | NAGS,PYY | c.1075A>C (p.Thr359Pro) c.982A>C (p.Thr328Pro) n.350A>C c.577A>C (p.Thr193Pro) c.-463+16884T>G (n.-463+16884T>G) | |
17 | g.44006688A>G | CA399726521 | NAGS,PYY | c.1075A>G (p.Thr359Ala) c.982A>G (p.Thr328Ala) n.350A>G c.577A>G (p.Thr193Ala) c.-463+16884T>C (n.-463+16884T>C) | |
17 | g.44006688A>T | CA399726522 | NAGS,PYY | c.1075A>T (p.Thr359Ser) c.982A>T (p.Thr328Ser) n.350A>T c.577A>T (p.Thr193Ser) c.-463+16884T>A (n.-463+16884T>A) | |
17 | g.44006689C>A | CA399726527 | NAGS,PYY | c.1076C>A (p.Thr359Asn) c.983C>A (p.Thr328Asn) n.351C>A c.578C>A (p.Thr193Asn) c.-463+16883G>T (n.-463+16883G>T) | |
17 | g.44006689C>G | CA399726526 | NAGS,PYY | c.1076C>G (p.Thr359Ser) c.983C>G (p.Thr328Ser) n.351C>G c.578C>G (p.Thr193Ser) c.-463+16883G>C (n.-463+16883G>C) | |
17 | g.44006689C>T | CA399726524 | NAGS,PYY | c.1076C>T (p.Thr359Ile) c.983C>T (p.Thr328Ile) n.351C>T c.578C>T (p.Thr193Ile) c.-463+16883G>A (n.-463+16883G>A) | |
17 | g.44006690T>A | CA500241270 | NAGS,PYY | c.1077T>A (p.Thr359=) c.984T>A (p.Thr328=) n.352T>A c.579T>A (p.Thr193=) c.-463+16882A>T (n.-463+16882A>T) | |
17 | g.44006690T>C | CA500241271 | NAGS,PYY | c.1077T>C (p.Thr359=) c.984T>C (p.Thr328=) n.352T>C c.579T>C (p.Thr193=) c.-463+16882A>G (n.-463+16882A>G) | |
17 | g.44006690T>G | CA500241272 | NAGS,PYY | c.1077T>G (p.Thr359=) c.984T>G (p.Thr328=) n.352T>G c.579T>G (p.Thr193=) c.-463+16882A>C (n.-463+16882A>C) | gnomAD v4 |
17 | g.44006691G>A | CA399726528 | NAGS,PYY | c.1078G>A (p.Glu360Lys) c.985G>A (p.Glu329Lys) n.353G>A c.580G>A (p.Glu194Lys) c.-463+16881C>T (n.-463+16881C>T) | |
17 | g.44006691G>C | CA399726531 | NAGS,PYY | c.1078G>C (p.Glu360Gln) c.985G>C (p.Glu329Gln) n.353G>C c.580G>C (p.Glu194Gln) c.-463+16881C>G (n.-463+16881C>G) | |
17 | g.44006691G>T | CA399726529 | NAGS,PYY | c.1078G>T (p.Glu360Ter) c.985G>T (p.Glu329Ter) n.353G>T c.580G>T (p.Glu194Ter) c.-463+16881C>A (n.-463+16881C>A) | gnomAD v4 COSMIC |
17 | g.44006692A>C | CA399726533 | NAGS,PYY | c.1079A>C (p.Glu360Ala) c.986A>C (p.Glu329Ala) n.354A>C c.581A>C (p.Glu194Ala) c.-463+16880T>G (n.-463+16880T>G) | |
17 | g.44006692A>G | CA399726536 | NAGS,PYY | c.1079A>G (p.Glu360Gly) c.986A>G (p.Glu329Gly) n.354A>G c.581A>G (p.Glu194Gly) c.-463+16880T>C (n.-463+16880T>C) | gnomAD v4 |
17 | g.44006692A>T | CA399726534 | NAGS,PYY | c.1079A>T (p.Glu360Val) c.986A>T (p.Glu329Val) n.354A>T c.581A>T (p.Glu194Val) c.-463+16880T>A (n.-463+16880T>A) | |
17 | g.44006693G>A | CA500241273 | NAGS,PYY | c.1080G>A (p.Glu360=) c.987G>A (p.Glu329=) n.355G>A c.582G>A (p.Glu194=) c.-463+16879C>T (n.-463+16879C>T) | |
17 | g.44006693G>C | CA399726538 | NAGS,PYY | c.1080G>C (p.Glu360Asp) c.987G>C (p.Glu329Asp) n.355G>C c.582G>C (p.Glu194Asp) c.-463+16879C>G (n.-463+16879C>G) | |
17 | g.44006693G>T | CA399726540 | NAGS,PYY | c.1080G>T (p.Glu360Asp) c.987G>T (p.Glu329Asp) n.355G>T c.582G>T (p.Glu194Asp) c.-463+16879C>A (n.-463+16879C>A) | gnomAD v4 |
17 | g.44006694C>A | CA399726541 | NAGS,PYY | c.1081C>A (p.Leu361Ile) c.988C>A (p.Leu330Ile) n.356C>A c.583C>A (p.Leu195Ile) c.-463+16878G>T (n.-463+16878G>T) | |
17 | g.44006694C>G | CA399726543 | NAGS,PYY | c.1081C>G (p.Leu361Val) c.988C>G (p.Leu330Val) n.356C>G c.583C>G (p.Leu195Val) c.-463+16878G>C (n.-463+16878G>C) | |
17 | g.44006694C>T | CA399726545 | NAGS,PYY | c.1081C>T (p.Leu361Phe) c.988C>T (p.Leu330Phe) n.356C>T c.583C>T (p.Leu195Phe) c.-463+16878G>A (n.-463+16878G>A) | |
17 | g.44006695T>A | CA399726547 | NAGS,PYY | c.1082T>A (p.Leu361His) c.989T>A (p.Leu330His) n.357T>A c.584T>A (p.Leu195His) c.-463+16877A>T (n.-463+16877A>T) | |
17 | g.44006695T>C | CA399726548 | NAGS,PYY | c.1082T>C (p.Leu361Pro) c.989T>C (p.Leu330Pro) n.357T>C c.584T>C (p.Leu195Pro) c.-463+16877A>G (n.-463+16877A>G) | |
17 | g.44006695T>G | CA399726550 | NAGS,PYY | c.1082T>G (p.Leu361Arg) c.989T>G (p.Leu330Arg) n.357T>G c.584T>G (p.Leu195Arg) c.-463+16877A>C (n.-463+16877A>C) | |
17 | g.44006696C>A | CA500241276 | NAGS,PYY | c.1083C>A (p.Leu361=) c.990C>A (p.Leu330=) n.358C>A c.585C>A (p.Leu195=) c.-463+16876G>T (n.-463+16876G>T) | |
17 | g.44006696C>G | CA500241274 | NAGS,PYY | c.1083C>G (p.Leu361=) c.990C>G (p.Leu330=) n.358C>G c.585C>G (p.Leu195=) c.-463+16876G>C (n.-463+16876G>C) | |
17 | g.44006696C>T | CA500241275 | NAGS,PYY | c.1083C>T (p.Leu361=) c.990C>T (p.Leu330=) n.358C>T c.585C>T (p.Leu195=) c.-463+16876G>A (n.-463+16876G>A) | |
17 | g.44006697T>A | CA399726552 | NAGS,PYY | c.1084T>A (p.Phe362Ile) c.991T>A (p.Phe331Ile) n.359T>A c.586T>A (p.Phe196Ile) c.-463+16875A>T (n.-463+16875A>T) | |
17 | g.44006697T>C | CA399726553 | NAGS,PYY | c.1084T>C (p.Phe362Leu) c.991T>C (p.Phe331Leu) n.359T>C c.586T>C (p.Phe196Leu) c.-463+16875A>G (n.-463+16875A>G) | |
17 | g.44006697T>G | CA399726554 | NAGS,PYY | c.1084T>G (p.Phe362Val) c.991T>G (p.Phe331Val) n.359T>G c.586T>G (p.Phe196Val) c.-463+16875A>C (n.-463+16875A>C) | |
17 | g.44006699del | CA2638145851 | NAGS,PYY | c.1086del (p.Phe362LeufsTer30) c.993del (p.Phe331LeufsTer30) n.361del c.588del (p.Phe196LeufsTer30) c.-463+16875del (n.-463+16875del) | gnomAD v4 |
17 | g.44006698T>A | CA399726560 | NAGS,PYY | c.1085T>A (p.Phe362Tyr) c.992T>A (p.Phe331Tyr) n.360T>A c.587T>A (p.Phe196Tyr) c.-463+16874A>T (n.-463+16874A>T) | |
17 | g.44006698T>C | CA399726558 | NAGS,PYY | c.1085T>C (p.Phe362Ser) c.992T>C (p.Phe331Ser) n.360T>C c.587T>C (p.Phe196Ser) c.-463+16874A>G (n.-463+16874A>G) | gnomAD v4 |
17 | g.44006698T>G | CA399726556 | NAGS,PYY | c.1085T>G (p.Phe362Cys) c.992T>G (p.Phe331Cys) n.360T>G c.587T>G (p.Phe196Cys) c.-463+16874A>C (n.-463+16874A>C) | gnomAD v4 |
17 | g.44006699T>A | CA399726561 | NAGS,PYY | c.1086T>A (p.Phe362Leu) c.993T>A (p.Phe331Leu) n.361T>A c.588T>A (p.Phe196Leu) c.-463+16873A>T (n.-463+16873A>T) | |
17 | g.44006699T>C | CA312792 | NAGS,PYY | c.1086T>C (p.Phe362=) c.993T>C (p.Phe331=) n.361T>C c.588T>C (p.Phe196=) c.-463+16873A>G (n.-463+16873A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006699T>G | CA399726562 | NAGS,PYY | c.1086T>G (p.Phe362Leu) c.993T>G (p.Phe331Leu) n.361T>G c.588T>G (p.Phe196Leu) c.-463+16873A>C (n.-463+16873A>C) | |
17 | g.44006699T= | CA2261182256 | NAGS,PYY | c.1086T= (p.Phe362=) c.993T= (p.Phe331=) n.361T= c.588T= (p.Phe196=) c.-463+16873A= (n.-463+16873A=) | |
17 | g.44006700A>C | CA399726563 | NAGS,PYY | c.1087A>C (p.Ser363Arg) c.994A>C (p.Ser332Arg) n.362A>C c.589A>C (p.Ser197Arg) c.-463+16872T>G (n.-463+16872T>G) | |
17 | g.44006700A>G | CA399726564 | NAGS,PYY | c.1087A>G (p.Ser363Gly) c.994A>G (p.Ser332Gly) n.362A>G c.589A>G (p.Ser197Gly) c.-463+16872T>C (n.-463+16872T>C) | gnomAD v4 |
17 | g.44006700A>T | CA399726565 | NAGS,PYY | c.1087A>T (p.Ser363Cys) c.994A>T (p.Ser332Cys) n.362A>T c.589A>T (p.Ser197Cys) c.-463+16872T>A (n.-463+16872T>A) | |
17 | g.44006701G>A | CA399726566 | NAGS,PYY | c.1088G>A (p.Ser363Asn) c.995G>A (p.Ser332Asn) n.363G>A c.590G>A (p.Ser197Asn) c.-463+16871C>T (n.-463+16871C>T) | gnomAD v4 |
17 | g.44006701G>C | CA399726567 | NAGS,PYY | c.1088G>C (p.Ser363Thr) c.995G>C (p.Ser332Thr) n.363G>C c.590G>C (p.Ser197Thr) c.-463+16871C>G (n.-463+16871C>G) | gnomAD v4 |
17 | g.44006701G>T | CA399726568 | NAGS,PYY | c.1088G>T (p.Ser363Ile) c.995G>T (p.Ser332Ile) n.363G>T c.590G>T (p.Ser197Ile) c.-463+16871C>A (n.-463+16871C>A) | gnomAD v4 |
17 | g.44006702C>A | CA399726569 | NAGS,PYY | c.1089C>A (p.Ser363Arg) c.996C>A (p.Ser332Arg) n.364C>A c.591C>A (p.Ser197Arg) c.-463+16870G>T (n.-463+16870G>T) | gnomAD v4 |
17 | g.44006702C>G | CA399726570 | NAGS,PYY | c.1089C>G (p.Ser363Arg) c.996C>G (p.Ser332Arg) n.364C>G c.591C>G (p.Ser197Arg) c.-463+16870G>C (n.-463+16870G>C) | |
17 | g.44006702C>T | CA500241277 | NAGS,PYY | c.1089C>T (p.Ser363=) c.996C>T (p.Ser332=) n.364C>T c.591C>T (p.Ser197=) c.-463+16870G>A (n.-463+16870G>A) | gnomAD v4 |
17 | g.44006703A>C | CA399726573 | NAGS,PYY | c.1090A>C (p.Asn364His) c.997A>C (p.Asn333His) n.365A>C c.592A>C (p.Asn198His) c.-463+16869T>G (n.-463+16869T>G) | |
17 | g.44006703A>G | CA399726572 | NAGS,PYY | c.1090A>G (p.Asn364Asp) c.997A>G (p.Asn333Asp) n.365A>G c.592A>G (p.Asn198Asp) c.-463+16869T>C (n.-463+16869T>C) | gnomAD v4 |
17 | g.44006703A>T | CA399726571 | NAGS,PYY | c.1090A>T (p.Asn364Tyr) c.997A>T (p.Asn333Tyr) n.365A>T c.592A>T (p.Asn198Tyr) c.-463+16869T>A (n.-463+16869T>A) | |
17 | g.44006704A>C | CA399726574 | NAGS,PYY | c.1091A>C (p.Asn364Thr) c.998A>C (p.Asn333Thr) n.366A>C c.593A>C (p.Asn198Thr) c.-463+16868T>G (n.-463+16868T>G) | |
17 | g.44006704A>G | CA399726575 | NAGS,PYY | c.1091A>G (p.Asn364Ser) c.998A>G (p.Asn333Ser) n.366A>G c.593A>G (p.Asn198Ser) c.-463+16868T>C (n.-463+16868T>C) | |
17 | g.44006704A>T | CA399726576 | NAGS,PYY | c.1091A>T (p.Asn364Ile) c.998A>T (p.Asn333Ile) n.366A>T c.593A>T (p.Asn198Ile) c.-463+16868T>A (n.-463+16868T>A) | |
17 | g.44006705C>A | CA399726577 | NAGS,PYY | c.1092C>A (p.Asn364Lys) c.999C>A (p.Asn333Lys) n.367C>A c.594C>A (p.Asn198Lys) c.-463+16867G>T (n.-463+16867G>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006705C= | CA2261182257 | NAGS,PYY | c.1092C= (p.Asn364=) c.999C= (p.Asn333=) n.367C= c.594C= (p.Asn198=) c.-463+16867G= (n.-463+16867G=) | |
17 | g.44006705C>G | CA399726578 | NAGS,PYY | c.1092C>G (p.Asn364Lys) c.999C>G (p.Asn333Lys) n.367C>G c.594C>G (p.Asn198Lys) c.-463+16867G>C (n.-463+16867G>C) | |
17 | g.44006705C>T | CA500241278 | NAGS,PYY | c.1092C>T (p.Asn364=) c.999C>T (p.Asn333=) n.367C>T c.594C>T (p.Asn198=) c.-463+16867G>A (n.-463+16867G>A) | |
17 | g.44006706A= | CA2261182258 | NAGS,PYY | c.1093A= (p.Lys365=) c.1000A= (p.Lys334=) n.368A= c.595A= (p.Lys199=) c.-463+16866T= (n.-463+16866T=) | |
17 | g.44006706A>C | CA399726579 | NAGS,PYY | c.1093A>C (p.Lys365Gln) c.1000A>C (p.Lys334Gln) n.368A>C c.595A>C (p.Lys199Gln) c.-463+16866T>G (n.-463+16866T>G) | |
17 | g.44006706A>G | CA399726580 | NAGS,PYY | c.1093A>G (p.Lys365Glu) c.1000A>G (p.Lys334Glu) n.368A>G c.595A>G (p.Lys199Glu) c.-463+16866T>C (n.-463+16866T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006706A>T | CA399726581 | NAGS,PYY | c.1093A>T (p.Lys365Ter) c.1000A>T (p.Lys334Ter) n.368A>T c.595A>T (p.Lys199Ter) c.-463+16866T>A (n.-463+16866T>A) | |
17 | g.44006707A>C | CA399726582 | NAGS,PYY | c.1094A>C (p.Lys365Thr) c.1001A>C (p.Lys334Thr) n.369A>C c.596A>C (p.Lys199Thr) c.-463+16865T>G (n.-463+16865T>G) | gnomAD v3 gnomAD v4 |
17 | g.44006707A>G | CA399726583 | NAGS,PYY | c.1094A>G (p.Lys365Arg) c.1001A>G (p.Lys334Arg) n.369A>G c.596A>G (p.Lys199Arg) c.-463+16865T>C (n.-463+16865T>C) | gnomAD v4 |
17 | g.44006707A>T | CA399726584 | NAGS,PYY | c.1094A>T (p.Lys365Met) c.1001A>T (p.Lys334Met) n.369A>T c.596A>T (p.Lys199Met) c.-463+16865T>A (n.-463+16865T>A) | gnomAD v4 |
17 | g.44006711_44006716del | CA2695200255 | NAGS,PYY | c.1096+2_1096+7del c.1003+2_1003+7del n.373_378del c.598+2_598+7del c.-463+16860_-463+16865del (n.-463+16860_-463+16865del) | ClinVar |
17 | g.44006708G>A | CA500241279 | NAGS,PYY | c.1095G>A (p.Lys365=) c.1002G>A (p.Lys334=) n.370G>A c.597G>A (p.Lys199=) c.-463+16864C>T (n.-463+16864C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44006708G>C | CA399726585 | NAGS,PYY | c.1095G>C (p.Lys365Asn) c.1002G>C (p.Lys334Asn) n.370G>C c.597G>C (p.Lys199Asn) c.-463+16864C>G (n.-463+16864C>G) | |
17 | g.44006708G= | CA2261182259 | NAGS,PYY | c.1095G= (p.Lys365=) c.1002G= (p.Lys334=) n.370G= c.597G= (p.Lys199=) c.-463+16864C= (n.-463+16864C=) | |
17 | g.44006708G>T | CA399726586 | NAGS,PYY | c.1095G>T (p.Lys365Asn) c.1002G>T (p.Lys334Asn) n.370G>T c.597G>T (p.Lys199Asn) c.-463+16864C>A (n.-463+16864C>A) | gnomAD v4 |
17 | g.44006709G>A | CA399726589 | NAGS,PYY | c.1096G>A (p.Gly366Arg) c.1003G>A (p.Gly335Arg) n.371G>A c.598G>A (p.Gly200Arg) c.-463+16863C>T (n.-463+16863C>T) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44006709G>C | CA399726587 | NAGS,PYY | c.1096G>C (p.Gly366Arg) c.1003G>C (p.Gly335Arg) n.371G>C c.598G>C (p.Gly200Arg) c.-463+16863C>G (n.-463+16863C>G) | gnomAD v4 |
17 | g.44006709G= | CA2261182260 | NAGS,PYY | c.1096G= (p.Gly366=) c.1003G= (p.Gly335=) n.371G= c.598G= (p.Gly200=) c.-463+16863C= (n.-463+16863C=) | |
17 | g.44006709G>T | CA399726588 | NAGS,PYY | c.1096G>T (p.Gly366Trp) c.1003G>T (p.Gly335Trp) n.371G>T c.598G>T (p.Gly200Trp) c.-463+16863C>A (n.-463+16863C>A) | |
17 | g.44006710G>A | CA399726590 | NAGS,PYY | c.1096+1G>A (n.1096+1G>A) c.1003+1G>A (n.1003+1G>A) n.372G>A c.598+1G>A (n.598+1G>A) c.-463+16862C>T (n.-463+16862C>T) | ClinVar dbSNP |
17 | g.44006710G>C | CA399726591 | NAGS,PYY | c.1096+1G>C (n.1096+1G>C) c.1003+1G>C (n.1003+1G>C) n.372G>C c.598+1G>C (n.598+1G>C) c.-463+16862C>G (n.-463+16862C>G) | |
17 | g.44006710G= | CA2261182261 | NAGS,PYY | c.1096+1G= (n.1096+1G=) c.1003+1G= (n.1003+1G=) n.372G= c.598+1G= (n.598+1G=) c.-463+16862C= (n.-463+16862C=) | |
17 | g.44006710G>T | CA399726592 | NAGS,PYY | c.1096+1G>T (n.1096+1G>T) c.1003+1G>T (n.1003+1G>T) n.372G>T c.598+1G>T (n.598+1G>T) c.-463+16862C>A (n.-463+16862C>A) | |
17 | g.44006711T>A | CA399726593 | NAGS,PYY | c.1096+2T>A (n.1096+2T>A) c.1003+2T>A (n.1003+2T>A) n.373T>A c.598+2T>A (n.598+2T>A) c.-463+16861A>T (n.-463+16861A>T) | |
17 | g.44006711T>C | CA399726594 | NAGS,PYY | c.1096+2T>C (n.1096+2T>C) c.1003+2T>C (n.1003+2T>C) n.373T>C c.598+2T>C (n.598+2T>C) c.-463+16861A>G (n.-463+16861A>G) | |
17 | g.44006711T>G | CA399726595 | NAGS,PYY | c.1096+2T>G (n.1096+2T>G) c.1003+2T>G (n.1003+2T>G) n.373T>G c.598+2T>G (n.598+2T>G) c.-463+16861A>C (n.-463+16861A>C) | ClinVar dbSNP |
17 | g.44006711T= | CA2261182262 | NAGS,PYY | c.1096+2T= (n.1096+2T=) c.1003+2T= (n.1003+2T=) n.373T= c.598+2T= (n.598+2T=) c.-463+16861A= (n.-463+16861A=) | |
17 | g.44006712G>C | CA2638145853 | NAGS,PYY | c.1096+3G>C (n.1096+3G>C) c.1003+3G>C (n.1003+3G>C) n.374G>C c.598+3G>C (n.598+3G>C) c.-463+16860C>G (n.-463+16860C>G) | gnomAD v4 |
17 | g.44006712G>T | CA2638145854 | NAGS,PYY | c.1096+3G>T (n.1096+3G>T) c.1003+3G>T (n.1003+3G>T) n.374G>T c.598+3G>T (n.598+3G>T) c.-463+16860C>A (n.-463+16860C>A) | gnomAD v4 |