Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.10457875G>C | CA631735095 | PDE4A | c.878-4G>C (n.878-4G>C) c.800-4G>C (n.800-4G>C) c.161-4G>C (n.161-4G>C) c.695-4G>C (n.695-4G>C) n.141-4G>C c.160+2953G>C (n.160+2953G>C) c.206-4G>C (n.206-4G>C) c.812-4G>C (n.812-4G>C) c.-35-4G>C (n.-35-4G>C) c.875-4G>C (n.875-4G>C) | dbSNP gnomAD v2 |
19 | g.10457875G= | CA2322438449 | PDE4A | c.878-4G= (n.878-4G=) c.800-4G= (n.800-4G=) c.161-4G= (n.161-4G=) c.695-4G= (n.695-4G=) n.141-4G= c.160+2953G= (n.160+2953G=) c.206-4G= (n.206-4G=) c.812-4G= (n.812-4G=) c.-35-4G= (n.-35-4G=) c.875-4G= (n.875-4G=) | |
19 | g.10457876C= | CA2322438450 | PDE4A | c.878-3C= (n.878-3C=) c.800-3C= (n.800-3C=) c.161-3C= (n.161-3C=) c.695-3C= (n.695-3C=) n.141-3C= c.160+2954C= (n.160+2954C=) c.206-3C= (n.206-3C=) c.812-3C= (n.812-3C=) c.-35-3C= (n.-35-3C=) c.875-3C= (n.875-3C=) | |
19 | g.10457876C>T | CA9194831 | PDE4A | c.878-3C>T (n.878-3C>T) c.800-3C>T (n.800-3C>T) c.161-3C>T (n.161-3C>T) c.695-3C>T (n.695-3C>T) n.141-3C>T c.160+2954C>T (n.160+2954C>T) c.206-3C>T (n.206-3C>T) c.812-3C>T (n.812-3C>T) c.-35-3C>T (n.-35-3C>T) c.875-3C>T (n.875-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457877A>C | CA404000272 | PDE4A | c.878-2A>C (n.878-2A>C) c.800-2A>C (n.800-2A>C) c.161-2A>C (n.161-2A>C) c.695-2A>C (n.695-2A>C) n.141-2A>C c.160+2955A>C (n.160+2955A>C) c.206-2A>C (n.206-2A>C) c.812-2A>C (n.812-2A>C) c.-35-2A>C (n.-35-2A>C) c.875-2A>C (n.875-2A>C) | |
19 | g.10457877A>G | CA404000274 | PDE4A | c.878-2A>G (n.878-2A>G) c.800-2A>G (n.800-2A>G) c.161-2A>G (n.161-2A>G) c.695-2A>G (n.695-2A>G) n.141-2A>G c.160+2955A>G (n.160+2955A>G) c.206-2A>G (n.206-2A>G) c.812-2A>G (n.812-2A>G) c.-35-2A>G (n.-35-2A>G) c.875-2A>G (n.875-2A>G) | |
19 | g.10457877A>T | CA404000276 | PDE4A | c.878-2A>T (n.878-2A>T) c.800-2A>T (n.800-2A>T) c.161-2A>T (n.161-2A>T) c.695-2A>T (n.695-2A>T) n.141-2A>T c.160+2955A>T (n.160+2955A>T) c.206-2A>T (n.206-2A>T) c.812-2A>T (n.812-2A>T) c.-35-2A>T (n.-35-2A>T) c.875-2A>T (n.875-2A>T) | |
19 | g.10457878G>A | CA404000282 | PDE4A | c.878-1G>A (n.878-1G>A) c.800-1G>A (n.800-1G>A) c.161-1G>A (n.161-1G>A) c.695-1G>A (n.695-1G>A) n.141-1G>A c.160+2956G>A (n.160+2956G>A) c.206-1G>A (n.206-1G>A) c.812-1G>A (n.812-1G>A) c.-35-1G>A (n.-35-1G>A) c.875-1G>A (n.875-1G>A) | |
19 | g.10457878G>C | CA404000281 | PDE4A | c.878-1G>C (n.878-1G>C) c.800-1G>C (n.800-1G>C) c.161-1G>C (n.161-1G>C) c.695-1G>C (n.695-1G>C) n.141-1G>C c.160+2956G>C (n.160+2956G>C) c.206-1G>C (n.206-1G>C) c.812-1G>C (n.812-1G>C) c.-35-1G>C (n.-35-1G>C) c.875-1G>C (n.875-1G>C) | |
19 | g.10457878G>T | CA404000278 | PDE4A | c.878-1G>T (n.878-1G>T) c.800-1G>T (n.800-1G>T) c.161-1G>T (n.161-1G>T) c.695-1G>T (n.695-1G>T) n.141-1G>T c.160+2956G>T (n.160+2956G>T) c.206-1G>T (n.206-1G>T) c.812-1G>T (n.812-1G>T) c.-35-1G>T (n.-35-1G>T) c.875-1G>T (n.875-1G>T) | |
19 | g.10457879A>C | CA404000283 | PDE4A | c.878A>C (p.Asp293Ala) c.800A>C (p.Asp267Ala) c.161A>C (p.Asp54Ala) c.695A>C (p.Asp232Ala) n.141A>C c.160+2957A>C (n.160+2957A>C) c.206A>C (p.Asp69Ala) c.812A>C (p.Asp271Ala) c.-35A>C (n.-35A>C) c.875A>C (p.Asp292Ala) | |
19 | g.10457879A>G | CA404000285 | PDE4A | c.878A>G (p.Asp293Gly) c.800A>G (p.Asp267Gly) c.161A>G (p.Asp54Gly) c.695A>G (p.Asp232Gly) n.141A>G c.160+2957A>G (n.160+2957A>G) c.206A>G (p.Asp69Gly) c.812A>G (p.Asp271Gly) c.-35A>G (n.-35A>G) c.875A>G (p.Asp292Gly) | COSMIC COSMIC COSMIC |
19 | g.10457879A>T | CA404000286 | PDE4A | c.878A>T (p.Asp293Val) c.800A>T (p.Asp267Val) c.161A>T (p.Asp54Val) c.695A>T (p.Asp232Val) n.141A>T c.160+2957A>T (n.160+2957A>T) c.206A>T (p.Asp69Val) c.812A>T (p.Asp271Val) c.-35A>T (n.-35A>T) c.875A>T (p.Asp292Val) | |
19 | g.10457880C>A | CA404000288 | PDE4A | c.879C>A (p.Asp293Glu) c.801C>A (p.Asp267Glu) c.162C>A (p.Asp54Glu) c.696C>A (p.Asp232Glu) n.142C>A c.160+2958C>A (n.160+2958C>A) c.207C>A (p.Asp69Glu) c.813C>A (p.Asp271Glu) c.-34C>A (n.-34C>A) c.876C>A (p.Asp292Glu) | |
19 | g.10457880C>G | CA404000290 | PDE4A | c.879C>G (p.Asp293Glu) c.801C>G (p.Asp267Glu) c.162C>G (p.Asp54Glu) c.696C>G (p.Asp232Glu) n.142C>G c.160+2958C>G (n.160+2958C>G) c.207C>G (p.Asp69Glu) c.813C>G (p.Asp271Glu) c.-34C>G (n.-34C>G) c.876C>G (p.Asp292Glu) | |
19 | g.10457880C>T | CA505382598 | PDE4A | c.879C>T (p.Asp293=) c.801C>T (p.Asp267=) c.162C>T (p.Asp54=) c.696C>T (p.Asp232=) n.142C>T c.160+2958C>T (n.160+2958C>T) c.207C>T (p.Asp69=) c.813C>T (p.Asp271=) c.-34C>T (n.-34C>T) c.876C>T (p.Asp292=) | |
19 | g.10457881A>C | CA404000293 | PDE4A | c.880A>C (p.Lys294Gln) c.802A>C (p.Lys268Gln) c.163A>C (p.Lys55Gln) c.697A>C (p.Lys233Gln) n.143A>C c.160+2959A>C (n.160+2959A>C) c.208A>C (p.Lys70Gln) c.814A>C (p.Lys272Gln) c.-33A>C (n.-33A>C) c.877A>C (p.Lys293Gln) | gnomAD v4 |
19 | g.10457881A>G | CA404000295 | PDE4A | c.880A>G (p.Lys294Glu) c.802A>G (p.Lys268Glu) c.163A>G (p.Lys55Glu) c.697A>G (p.Lys233Glu) n.143A>G c.160+2959A>G (n.160+2959A>G) c.208A>G (p.Lys70Glu) c.814A>G (p.Lys272Glu) c.-33A>G (n.-33A>G) c.877A>G (p.Lys293Glu) | |
19 | g.10457881A>T | CA404000297 | PDE4A | c.880A>T (p.Lys294Ter) c.802A>T (p.Lys268Ter) c.163A>T (p.Lys55Ter) c.697A>T (p.Lys233Ter) n.143A>T c.160+2959A>T (n.160+2959A>T) c.208A>T (p.Lys70Ter) c.814A>T (p.Lys272Ter) c.-33A>T (n.-33A>T) c.877A>T (p.Lys293Ter) | |
19 | g.10457882A>C | CA404000299 | PDE4A | c.881A>C (p.Lys294Thr) c.803A>C (p.Lys268Thr) c.164A>C (p.Lys55Thr) c.698A>C (p.Lys233Thr) n.144A>C c.160+2960A>C (n.160+2960A>C) c.209A>C (p.Lys70Thr) c.815A>C (p.Lys272Thr) c.-32A>C (n.-32A>C) c.878A>C (p.Lys293Thr) | |
19 | g.10457882A>G | CA404000300 | PDE4A | c.881A>G (p.Lys294Arg) c.803A>G (p.Lys268Arg) c.164A>G (p.Lys55Arg) c.698A>G (p.Lys233Arg) n.144A>G c.160+2960A>G (n.160+2960A>G) c.209A>G (p.Lys70Arg) c.815A>G (p.Lys272Arg) c.-32A>G (n.-32A>G) c.878A>G (p.Lys293Arg) | |
19 | g.10457882A>T | CA404000301 | PDE4A | c.881A>T (p.Lys294Ile) c.803A>T (p.Lys268Ile) c.164A>T (p.Lys55Ile) c.698A>T (p.Lys233Ile) n.144A>T c.160+2960A>T (n.160+2960A>T) c.209A>T (p.Lys70Ile) c.815A>T (p.Lys272Ile) c.-32A>T (n.-32A>T) c.878A>T (p.Lys293Ile) | |
19 | g.10457883A>C | CA404000303 | PDE4A | c.882A>C (p.Lys294Asn) c.804A>C (p.Lys268Asn) c.165A>C (p.Lys55Asn) c.699A>C (p.Lys233Asn) n.145A>C c.160+2961A>C (n.160+2961A>C) c.210A>C (p.Lys70Asn) c.816A>C (p.Lys272Asn) c.-31A>C (n.-31A>C) c.879A>C (p.Lys293Asn) | |
19 | g.10457883A>G | CA505382599 | PDE4A | c.882A>G (p.Lys294=) c.804A>G (p.Lys268=) c.165A>G (p.Lys55=) c.699A>G (p.Lys233=) n.145A>G c.160+2961A>G (n.160+2961A>G) c.210A>G (p.Lys70=) c.816A>G (p.Lys272=) c.-31A>G (n.-31A>G) c.879A>G (p.Lys293=) | |
19 | g.10457883A>T | CA404000304 | PDE4A | c.882A>T (p.Lys294Asn) c.804A>T (p.Lys268Asn) c.165A>T (p.Lys55Asn) c.699A>T (p.Lys233Asn) n.145A>T c.160+2961A>T (n.160+2961A>T) c.210A>T (p.Lys70Asn) c.816A>T (p.Lys272Asn) c.-31A>T (n.-31A>T) c.879A>T (p.Lys293Asn) | |
19 | g.10457884C>A | CA404000310 | PDE4A | c.883C>A (p.Gln295Lys) c.805C>A (p.Gln269Lys) c.166C>A (p.Gln56Lys) c.700C>A (p.Gln234Lys) n.146C>A c.160+2962C>A (n.160+2962C>A) c.211C>A (p.Gln71Lys) c.817C>A (p.Gln273Lys) c.-30C>A (n.-30C>A) c.880C>A (p.Gln294Lys) | |
19 | g.10457884C>G | CA404000308 | PDE4A | c.883C>G (p.Gln295Glu) c.805C>G (p.Gln269Glu) c.166C>G (p.Gln56Glu) c.700C>G (p.Gln234Glu) n.146C>G c.160+2962C>G (n.160+2962C>G) c.211C>G (p.Gln71Glu) c.817C>G (p.Gln273Glu) c.-30C>G (n.-30C>G) c.880C>G (p.Gln294Glu) | gnomAD v4 |
19 | g.10457884C>T | CA404000306 | PDE4A | c.883C>T (p.Gln295Ter) c.805C>T (p.Gln269Ter) c.166C>T (p.Gln56Ter) c.700C>T (p.Gln234Ter) n.146C>T c.160+2962C>T (n.160+2962C>T) c.211C>T (p.Gln71Ter) c.817C>T (p.Gln273Ter) c.-30C>T (n.-30C>T) c.880C>T (p.Gln294Ter) | |
19 | g.10457885A= | CA2322438451 | PDE4A | c.884A= (p.Gln295=) c.806A= (p.Gln269=) c.167A= (p.Gln56=) c.701A= (p.Gln234=) n.147A= c.160+2963A= (n.160+2963A=) c.212A= (p.Gln71=) c.818A= (p.Gln273=) c.-29A= (n.-29A=) c.881A= (p.Gln294=) | |
19 | g.10457885A>C | CA404000314 | PDE4A | c.884A>C (p.Gln295Pro) c.806A>C (p.Gln269Pro) c.167A>C (p.Gln56Pro) c.701A>C (p.Gln234Pro) n.147A>C c.160+2963A>C (n.160+2963A>C) c.212A>C (p.Gln71Pro) c.818A>C (p.Gln273Pro) c.-29A>C (n.-29A>C) c.881A>C (p.Gln294Pro) | |
19 | g.10457885A>G | CA9194832 | PDE4A | c.884A>G (p.Gln295Arg) c.806A>G (p.Gln269Arg) c.167A>G (p.Gln56Arg) c.701A>G (p.Gln234Arg) n.147A>G c.160+2963A>G (n.160+2963A>G) c.212A>G (p.Gln71Arg) c.818A>G (p.Gln273Arg) c.-29A>G (n.-29A>G) c.881A>G (p.Gln294Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457885A>T | CA404000316 | PDE4A | c.884A>T (p.Gln295Leu) c.806A>T (p.Gln269Leu) c.167A>T (p.Gln56Leu) c.701A>T (p.Gln234Leu) n.147A>T c.160+2963A>T (n.160+2963A>T) c.212A>T (p.Gln71Leu) c.818A>T (p.Gln273Leu) c.-29A>T (n.-29A>T) c.881A>T (p.Gln294Leu) | |
19 | g.10457886G>A | CA505382601 | PDE4A | c.885G>A (p.Gln295=) c.807G>A (p.Gln269=) c.168G>A (p.Gln56=) c.702G>A (p.Gln234=) n.148G>A c.160+2964G>A (n.160+2964G>A) c.213G>A (p.Gln71=) c.819G>A (p.Gln273=) c.-28G>A (n.-28G>A) c.882G>A (p.Gln294=) | dbSNP |
19 | g.10457886G>C | CA404000318 | PDE4A | c.885G>C (p.Gln295His) c.807G>C (p.Gln269His) c.168G>C (p.Gln56His) c.702G>C (p.Gln234His) n.148G>C c.160+2964G>C (n.160+2964G>C) c.213G>C (p.Gln71His) c.819G>C (p.Gln273His) c.-28G>C (n.-28G>C) c.882G>C (p.Gln294His) | |
19 | g.10457886G= | CA2322438452 | PDE4A | c.885G= (p.Gln295=) c.807G= (p.Gln269=) c.168G= (p.Gln56=) c.702G= (p.Gln234=) n.148G= c.160+2964G= (n.160+2964G=) c.213G= (p.Gln71=) c.819G= (p.Gln273=) c.-28G= (n.-28G=) c.882G= (p.Gln294=) | |
19 | g.10457886G>T | CA404000320 | PDE4A | c.885G>T (p.Gln295His) c.807G>T (p.Gln269His) c.168G>T (p.Gln56His) c.702G>T (p.Gln234His) n.148G>T c.160+2964G>T (n.160+2964G>T) c.213G>T (p.Gln71His) c.819G>T (p.Gln273His) c.-28G>T (n.-28G>T) c.882G>T (p.Gln294His) | |
19 | g.10457887A>C | CA404000321 | PDE4A | c.886A>C (p.Asn296His) c.808A>C (p.Asn270His) c.169A>C (p.Asn57His) c.703A>C (p.Asn235His) n.149A>C c.160+2965A>C (n.160+2965A>C) c.214A>C (p.Asn72His) c.820A>C (p.Asn274His) c.-27A>C (n.-27A>C) c.883A>C (p.Asn295His) | |
19 | g.10457887A>G | CA404000322 | PDE4A | c.886A>G (p.Asn296Asp) c.808A>G (p.Asn270Asp) c.169A>G (p.Asn57Asp) c.703A>G (p.Asn235Asp) n.149A>G c.160+2965A>G (n.160+2965A>G) c.214A>G (p.Asn72Asp) c.820A>G (p.Asn274Asp) c.-27A>G (n.-27A>G) c.883A>G (p.Asn295Asp) | |
19 | g.10457887A>T | CA404000325 | PDE4A | c.886A>T (p.Asn296Tyr) c.808A>T (p.Asn270Tyr) c.169A>T (p.Asn57Tyr) c.703A>T (p.Asn235Tyr) n.149A>T c.160+2965A>T (n.160+2965A>T) c.214A>T (p.Asn72Tyr) c.820A>T (p.Asn274Tyr) c.-27A>T (n.-27A>T) c.883A>T (p.Asn295Tyr) | |
19 | g.10457888A>C | CA404000326 | PDE4A | c.887A>C (p.Asn296Thr) c.809A>C (p.Asn270Thr) c.170A>C (p.Asn57Thr) c.704A>C (p.Asn235Thr) n.150A>C c.160+2966A>C (n.160+2966A>C) c.215A>C (p.Asn72Thr) c.821A>C (p.Asn274Thr) c.-26A>C (n.-26A>C) c.884A>C (p.Asn295Thr) | |
19 | g.10457888A>G | CA404000328 | PDE4A | c.887A>G (p.Asn296Ser) c.809A>G (p.Asn270Ser) c.170A>G (p.Asn57Ser) c.704A>G (p.Asn235Ser) n.150A>G c.160+2966A>G (n.160+2966A>G) c.215A>G (p.Asn72Ser) c.821A>G (p.Asn274Ser) c.-26A>G (n.-26A>G) c.884A>G (p.Asn295Ser) | |
19 | g.10457888A>T | CA404000330 | PDE4A | c.887A>T (p.Asn296Ile) c.809A>T (p.Asn270Ile) c.170A>T (p.Asn57Ile) c.704A>T (p.Asn235Ile) n.150A>T c.160+2966A>T (n.160+2966A>T) c.215A>T (p.Asn72Ile) c.821A>T (p.Asn274Ile) c.-26A>T (n.-26A>T) c.884A>T (p.Asn295Ile) | |
19 | g.10457889T>A | CA404000332 | PDE4A | c.888T>A (p.Asn296Lys) c.810T>A (p.Asn270Lys) c.171T>A (p.Asn57Lys) c.705T>A (p.Asn235Lys) n.151T>A c.160+2967T>A (n.160+2967T>A) c.216T>A (p.Asn72Lys) c.822T>A (p.Asn274Lys) c.-25T>A (n.-25T>A) c.885T>A (p.Asn295Lys) | |
19 | g.10457889T>C | CA505382603 | PDE4A | c.888T>C (p.Asn296=) c.810T>C (p.Asn270=) c.171T>C (p.Asn57=) c.705T>C (p.Asn235=) n.151T>C c.160+2967T>C (n.160+2967T>C) c.216T>C (p.Asn72=) c.822T>C (p.Asn274=) c.-25T>C (n.-25T>C) c.885T>C (p.Asn295=) | |
19 | g.10457889T>G | CA404000334 | PDE4A | c.888T>G (p.Asn296Lys) c.810T>G (p.Asn270Lys) c.171T>G (p.Asn57Lys) c.705T>G (p.Asn235Lys) n.151T>G c.160+2967T>G (n.160+2967T>G) c.216T>G (p.Asn72Lys) c.822T>G (p.Asn274Lys) c.-25T>G (n.-25T>G) c.885T>G (p.Asn295Lys) | |
19 | g.10457890G>A | CA404000337 | PDE4A | c.889G>A (p.Glu297Lys) c.811G>A (p.Glu271Lys) c.172G>A (p.Glu58Lys) c.706G>A (p.Glu236Lys) n.152G>A c.160+2968G>A (n.160+2968G>A) c.217G>A (p.Glu73Lys) c.823G>A (p.Glu275Lys) c.-24G>A (n.-24G>A) c.886G>A (p.Glu296Lys) | gnomAD v4 |
19 | g.10457890G>C | CA404000339 | PDE4A | c.889G>C (p.Glu297Gln) c.811G>C (p.Glu271Gln) c.172G>C (p.Glu58Gln) c.706G>C (p.Glu236Gln) n.152G>C c.160+2968G>C (n.160+2968G>C) c.217G>C (p.Glu73Gln) c.823G>C (p.Glu275Gln) c.-24G>C (n.-24G>C) c.886G>C (p.Glu296Gln) | |
19 | g.10457890G>T | CA404000341 | PDE4A | c.889G>T (p.Glu297Ter) c.811G>T (p.Glu271Ter) c.172G>T (p.Glu58Ter) c.706G>T (p.Glu236Ter) n.152G>T c.160+2968G>T (n.160+2968G>T) c.217G>T (p.Glu73Ter) c.823G>T (p.Glu275Ter) c.-24G>T (n.-24G>T) c.886G>T (p.Glu296Ter) | |
19 | g.10457891A>C | CA404000347 | PDE4A | c.890A>C (p.Glu297Ala) c.812A>C (p.Glu271Ala) c.173A>C (p.Glu58Ala) c.707A>C (p.Glu236Ala) n.153A>C c.160+2969A>C (n.160+2969A>C) c.218A>C (p.Glu73Ala) c.824A>C (p.Glu275Ala) c.-23A>C (n.-23A>C) c.887A>C (p.Glu296Ala) | |
19 | g.10457891A>G | CA404000343 | PDE4A | c.890A>G (p.Glu297Gly) c.812A>G (p.Glu271Gly) c.173A>G (p.Glu58Gly) c.707A>G (p.Glu236Gly) n.153A>G c.160+2969A>G (n.160+2969A>G) c.218A>G (p.Glu73Gly) c.824A>G (p.Glu275Gly) c.-23A>G (n.-23A>G) c.887A>G (p.Glu296Gly) | gnomAD v4 |
19 | g.10457891A>T | CA404000345 | PDE4A | c.890A>T (p.Glu297Val) c.812A>T (p.Glu271Val) c.173A>T (p.Glu58Val) c.707A>T (p.Glu236Val) n.153A>T c.160+2969A>T (n.160+2969A>T) c.218A>T (p.Glu73Val) c.824A>T (p.Glu275Val) c.-23A>T (n.-23A>T) c.887A>T (p.Glu296Val) | |
19 | g.10457892A>C | CA404000349 | PDE4A | c.891A>C (p.Glu297Asp) c.813A>C (p.Glu271Asp) c.174A>C (p.Glu58Asp) c.708A>C (p.Glu236Asp) n.154A>C c.160+2970A>C (n.160+2970A>C) c.219A>C (p.Glu73Asp) c.825A>C (p.Glu275Asp) c.-22A>C (n.-22A>C) c.888A>C (p.Glu296Asp) | |
19 | g.10457892A>G | CA505382605 | PDE4A | c.891A>G (p.Glu297=) c.813A>G (p.Glu271=) c.174A>G (p.Glu58=) c.708A>G (p.Glu236=) n.154A>G c.160+2970A>G (n.160+2970A>G) c.219A>G (p.Glu73=) c.825A>G (p.Glu275=) c.-22A>G (n.-22A>G) c.888A>G (p.Glu296=) | |
19 | g.10457892A>T | CA404000352 | PDE4A | c.891A>T (p.Glu297Asp) c.813A>T (p.Glu271Asp) c.174A>T (p.Glu58Asp) c.708A>T (p.Glu236Asp) n.154A>T c.160+2970A>T (n.160+2970A>T) c.219A>T (p.Glu73Asp) c.825A>T (p.Glu275Asp) c.-22A>T (n.-22A>T) c.888A>T (p.Glu296Asp) | |
19 | g.10457893G>A | CA305219021 | PDE4A | c.892G>A (p.Val298Met) c.814G>A (p.Val272Met) c.175G>A (p.Val59Met) c.709G>A (p.Val237Met) n.155G>A c.160+2971G>A (n.160+2971G>A) c.220G>A (p.Val74Met) c.826G>A (p.Val276Met) c.-21G>A (n.-21G>A) c.889G>A (p.Val297Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.10457893G>C | CA404000354 | PDE4A | c.892G>C (p.Val298Leu) c.814G>C (p.Val272Leu) c.175G>C (p.Val59Leu) c.709G>C (p.Val237Leu) n.155G>C c.160+2971G>C (n.160+2971G>C) c.220G>C (p.Val74Leu) c.826G>C (p.Val276Leu) c.-21G>C (n.-21G>C) c.889G>C (p.Val297Leu) | |
19 | g.10457893G= | CA2322438453 | PDE4A | c.892G= (p.Val298=) c.814G= (p.Val272=) c.175G= (p.Val59=) c.709G= (p.Val237=) n.155G= c.160+2971G= (n.160+2971G=) c.220G= (p.Val74=) c.826G= (p.Val276=) c.-21G= (n.-21G=) c.889G= (p.Val297=) | |
19 | g.10457893G>T | CA404000355 | PDE4A | c.892G>T (p.Val298Leu) c.814G>T (p.Val272Leu) c.175G>T (p.Val59Leu) c.709G>T (p.Val237Leu) n.155G>T c.160+2971G>T (n.160+2971G>T) c.220G>T (p.Val74Leu) c.826G>T (p.Val276Leu) c.-21G>T (n.-21G>T) c.889G>T (p.Val297Leu) | |
19 | g.10457894T>A | CA404000357 | PDE4A | c.893T>A (p.Val298Glu) c.815T>A (p.Val272Glu) c.176T>A (p.Val59Glu) c.710T>A (p.Val237Glu) n.156T>A c.160+2972T>A (n.160+2972T>A) c.221T>A (p.Val74Glu) c.827T>A (p.Val276Glu) c.-20T>A (n.-20T>A) c.890T>A (p.Val297Glu) | |
19 | g.10457894T>C | CA404000358 | PDE4A | c.893T>C (p.Val298Ala) c.815T>C (p.Val272Ala) c.176T>C (p.Val59Ala) c.710T>C (p.Val237Ala) n.156T>C c.160+2972T>C (n.160+2972T>C) c.221T>C (p.Val74Ala) c.827T>C (p.Val276Ala) c.-20T>C (n.-20T>C) c.890T>C (p.Val297Ala) | |
19 | g.10457894T>G | CA404000360 | PDE4A | c.893T>G (p.Val298Gly) c.815T>G (p.Val272Gly) c.176T>G (p.Val59Gly) c.710T>G (p.Val237Gly) n.156T>G c.160+2972T>G (n.160+2972T>G) c.221T>G (p.Val74Gly) c.827T>G (p.Val276Gly) c.-20T>G (n.-20T>G) c.890T>G (p.Val297Gly) | |
19 | g.10457895G>A | CA505382609 | PDE4A | c.894G>A (p.Val298=) c.816G>A (p.Val272=) c.177G>A (p.Val59=) c.711G>A (p.Val237=) n.157G>A c.160+2973G>A (n.160+2973G>A) c.222G>A (p.Val74=) c.828G>A (p.Val276=) c.-19G>A (n.-19G>A) c.891G>A (p.Val297=) | |
19 | g.10457895G>C | CA505382611 | PDE4A | c.894G>C (p.Val298=) c.816G>C (p.Val272=) c.177G>C (p.Val59=) c.711G>C (p.Val237=) n.157G>C c.160+2973G>C (n.160+2973G>C) c.222G>C (p.Val74=) c.828G>C (p.Val276=) c.-19G>C (n.-19G>C) c.891G>C (p.Val297=) | |
19 | g.10457895G>T | CA505382610 | PDE4A | c.894G>T (p.Val298=) c.816G>T (p.Val272=) c.177G>T (p.Val59=) c.711G>T (p.Val237=) n.157G>T c.160+2973G>T (n.160+2973G>T) c.222G>T (p.Val74=) c.828G>T (p.Val276=) c.-19G>T (n.-19G>T) c.891G>T (p.Val297=) | |
19 | g.10457896G>A | CA404000361 | PDE4A | c.895G>A (p.Glu299Lys) c.817G>A (p.Glu273Lys) c.178G>A (p.Glu60Lys) c.712G>A (p.Glu238Lys) n.158G>A c.160+2974G>A (n.160+2974G>A) c.223G>A (p.Glu75Lys) c.829G>A (p.Glu277Lys) c.-18G>A (n.-18G>A) c.892G>A (p.Glu298Lys) | gnomAD v4 |
19 | g.10457896G>C | CA404000363 | PDE4A | c.895G>C (p.Glu299Gln) c.817G>C (p.Glu273Gln) c.178G>C (p.Glu60Gln) c.712G>C (p.Glu238Gln) n.158G>C c.160+2974G>C (n.160+2974G>C) c.223G>C (p.Glu75Gln) c.829G>C (p.Glu277Gln) c.-18G>C (n.-18G>C) c.892G>C (p.Glu298Gln) | |
19 | g.10457896G>T | CA404000364 | PDE4A | c.895G>T (p.Glu299Ter) c.817G>T (p.Glu273Ter) c.178G>T (p.Glu60Ter) c.712G>T (p.Glu238Ter) n.158G>T c.160+2974G>T (n.160+2974G>T) c.223G>T (p.Glu75Ter) c.829G>T (p.Glu277Ter) c.-18G>T (n.-18G>T) c.892G>T (p.Glu298Ter) | |
19 | g.10457897A>C | CA404000369 | PDE4A | c.896A>C (p.Glu299Ala) c.818A>C (p.Glu273Ala) c.179A>C (p.Glu60Ala) c.713A>C (p.Glu238Ala) n.159A>C c.160+2975A>C (n.160+2975A>C) c.224A>C (p.Glu75Ala) c.830A>C (p.Glu277Ala) c.-17A>C (n.-17A>C) c.893A>C (p.Glu298Ala) | |
19 | g.10457897A>G | CA404000368 | PDE4A | c.896A>G (p.Glu299Gly) c.818A>G (p.Glu273Gly) c.179A>G (p.Glu60Gly) c.713A>G (p.Glu238Gly) n.159A>G c.160+2975A>G (n.160+2975A>G) c.224A>G (p.Glu75Gly) c.830A>G (p.Glu277Gly) c.-17A>G (n.-17A>G) c.893A>G (p.Glu298Gly) | gnomAD v4 |
19 | g.10457897A>T | CA404000366 | PDE4A | c.896A>T (p.Glu299Val) c.818A>T (p.Glu273Val) c.179A>T (p.Glu60Val) c.713A>T (p.Glu238Val) n.159A>T c.160+2975A>T (n.160+2975A>T) c.224A>T (p.Glu75Val) c.830A>T (p.Glu277Val) c.-17A>T (n.-17A>T) c.893A>T (p.Glu298Val) | |
19 | g.10457898G>A | CA505382612 | PDE4A | c.897G>A (p.Glu299=) c.819G>A (p.Glu273=) c.180G>A (p.Glu60=) c.714G>A (p.Glu238=) n.160G>A c.160+2976G>A (n.160+2976G>A) c.225G>A (p.Glu75=) c.831G>A (p.Glu277=) c.-16G>A (n.-16G>A) c.894G>A (p.Glu298=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457898G>C | CA404000371 | PDE4A | c.897G>C (p.Glu299Asp) c.819G>C (p.Glu273Asp) c.180G>C (p.Glu60Asp) c.714G>C (p.Glu238Asp) n.160G>C c.160+2976G>C (n.160+2976G>C) c.225G>C (p.Glu75Asp) c.831G>C (p.Glu277Asp) c.-16G>C (n.-16G>C) c.894G>C (p.Glu298Asp) | |
19 | g.10457898G= | CA2322438454 | PDE4A | c.897G= (p.Glu299=) c.819G= (p.Glu273=) c.180G= (p.Glu60=) c.714G= (p.Glu238=) n.160G= c.160+2976G= (n.160+2976G=) c.225G= (p.Glu75=) c.831G= (p.Glu277=) c.-16G= (n.-16G=) c.894G= (p.Glu298=) | |
19 | g.10457898G>T | CA404000373 | PDE4A | c.897G>T (p.Glu299Asp) c.819G>T (p.Glu273Asp) c.180G>T (p.Glu60Asp) c.714G>T (p.Glu238Asp) n.160G>T c.160+2976G>T (n.160+2976G>T) c.225G>T (p.Glu75Asp) c.831G>T (p.Glu277Asp) c.-16G>T (n.-16G>T) c.894G>T (p.Glu298Asp) | |
19 | g.10457899A>C | CA404000375 | PDE4A | c.898A>C (p.Ile300Leu) c.820A>C (p.Ile274Leu) c.181A>C (p.Ile61Leu) c.715A>C (p.Ile239Leu) n.161A>C c.160+2977A>C (n.160+2977A>C) c.226A>C (p.Ile76Leu) c.832A>C (p.Ile278Leu) c.-15A>C (n.-15A>C) c.895A>C (p.Ile299Leu) | gnomAD v4 |
19 | g.10457899A>G | CA404000377 | PDE4A | c.898A>G (p.Ile300Val) c.820A>G (p.Ile274Val) c.181A>G (p.Ile61Val) c.715A>G (p.Ile239Val) n.161A>G c.160+2977A>G (n.160+2977A>G) c.226A>G (p.Ile76Val) c.832A>G (p.Ile278Val) c.-15A>G (n.-15A>G) c.895A>G (p.Ile299Val) | |
19 | g.10457899A>T | CA404000379 | PDE4A | c.898A>T (p.Ile300Phe) c.820A>T (p.Ile274Phe) c.181A>T (p.Ile61Phe) c.715A>T (p.Ile239Phe) n.161A>T c.160+2977A>T (n.160+2977A>T) c.226A>T (p.Ile76Phe) c.832A>T (p.Ile278Phe) c.-15A>T (n.-15A>T) c.895A>T (p.Ile299Phe) | |
19 | g.10457900T>A | CA404000380 | PDE4A | c.899T>A (p.Ile300Asn) c.821T>A (p.Ile274Asn) c.182T>A (p.Ile61Asn) c.716T>A (p.Ile239Asn) n.162T>A c.160+2978T>A (n.160+2978T>A) c.227T>A (p.Ile76Asn) c.833T>A (p.Ile278Asn) c.-14T>A (n.-14T>A) c.896T>A (p.Ile299Asn) | |
19 | g.10457900T>C | CA404000382 | PDE4A | c.899T>C (p.Ile300Thr) c.821T>C (p.Ile274Thr) c.182T>C (p.Ile61Thr) c.716T>C (p.Ile239Thr) n.162T>C c.160+2978T>C (n.160+2978T>C) c.227T>C (p.Ile76Thr) c.833T>C (p.Ile278Thr) c.-14T>C (n.-14T>C) c.896T>C (p.Ile299Thr) | |
19 | g.10457900T>G | CA305219032 | PDE4A | c.899T>G (p.Ile300Ser) c.821T>G (p.Ile274Ser) c.182T>G (p.Ile61Ser) c.716T>G (p.Ile239Ser) n.162T>G c.160+2978T>G (n.160+2978T>G) c.227T>G (p.Ile76Ser) c.833T>G (p.Ile278Ser) c.-14T>G (n.-14T>G) c.896T>G (p.Ile299Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457900T= | CA2322438455 | PDE4A | c.899T= (p.Ile300=) c.821T= (p.Ile274=) c.182T= (p.Ile61=) c.716T= (p.Ile239=) n.162T= c.160+2978T= (n.160+2978T=) c.227T= (p.Ile76=) c.833T= (p.Ile278=) c.-14T= (n.-14T=) c.896T= (p.Ile299=) | |
19 | g.10457901C>A | CA505382613 | PDE4A | c.900C>A (p.Ile300=) c.822C>A (p.Ile274=) c.183C>A (p.Ile61=) c.717C>A (p.Ile239=) n.163C>A c.160+2979C>A (n.160+2979C>A) c.228C>A (p.Ile76=) c.834C>A (p.Ile278=) c.-13C>A (n.-13C>A) c.897C>A (p.Ile299=) | |
19 | g.10457901C= | CA2322438456 | PDE4A | c.900C= (p.Ile300=) c.822C= (p.Ile274=) c.183C= (p.Ile61=) c.717C= (p.Ile239=) n.163C= c.160+2979C= (n.160+2979C=) c.228C= (p.Ile76=) c.834C= (p.Ile278=) c.-13C= (n.-13C=) c.897C= (p.Ile299=) | |
19 | g.10457901C>G | CA9194833 | PDE4A | c.900C>G (p.Ile300Met) c.822C>G (p.Ile274Met) c.183C>G (p.Ile61Met) c.717C>G (p.Ile239Met) n.163C>G c.160+2979C>G (n.160+2979C>G) c.228C>G (p.Ile76Met) c.834C>G (p.Ile278Met) c.-13C>G (n.-13C>G) c.897C>G (p.Ile299Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457901C>T | CA9194834 | PDE4A | c.900C>T (p.Ile300=) c.822C>T (p.Ile274=) c.183C>T (p.Ile61=) c.717C>T (p.Ile239=) n.163C>T c.160+2979C>T (n.160+2979C>T) c.228C>T (p.Ile76=) c.834C>T (p.Ile278=) c.-13C>T (n.-13C>T) c.897C>T (p.Ile299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457902C>A | CA404000386 | PDE4A | c.901C>A (p.Pro301Thr) c.823C>A (p.Pro275Thr) c.184C>A (p.Pro62Thr) c.718C>A (p.Pro240Thr) n.164C>A c.160+2980C>A (n.160+2980C>A) c.229C>A (p.Pro77Thr) c.835C>A (p.Pro279Thr) c.-12C>A (n.-12C>A) c.898C>A (p.Pro300Thr) | |
19 | g.10457902C= | CA2322438457 | PDE4A | c.901C= (p.Pro301=) c.823C= (p.Pro275=) c.184C= (p.Pro62=) c.718C= (p.Pro240=) n.164C= c.160+2980C= (n.160+2980C=) c.229C= (p.Pro77=) c.835C= (p.Pro279=) c.-12C= (n.-12C=) c.898C= (p.Pro300=) | |
19 | g.10457902C>G | CA404000387 | PDE4A | c.901C>G (p.Pro301Ala) c.823C>G (p.Pro275Ala) c.184C>G (p.Pro62Ala) c.718C>G (p.Pro240Ala) n.164C>G c.160+2980C>G (n.160+2980C>G) c.229C>G (p.Pro77Ala) c.835C>G (p.Pro279Ala) c.-12C>G (n.-12C>G) c.898C>G (p.Pro300Ala) | gnomAD v4 |
19 | g.10457902C>T | CA404000388 | PDE4A | c.901C>T (p.Pro301Ser) c.823C>T (p.Pro275Ser) c.184C>T (p.Pro62Ser) c.718C>T (p.Pro240Ser) n.164C>T c.160+2980C>T (n.160+2980C>T) c.229C>T (p.Pro77Ser) c.835C>T (p.Pro279Ser) c.-12C>T (n.-12C>T) c.898C>T (p.Pro300Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457903C>A | CA404000394 | PDE4A | c.902C>A (p.Pro301Gln) c.824C>A (p.Pro275Gln) c.185C>A (p.Pro62Gln) c.719C>A (p.Pro240Gln) n.165C>A c.160+2981C>A (n.160+2981C>A) c.230C>A (p.Pro77Gln) c.836C>A (p.Pro279Gln) c.-11C>A (n.-11C>A) c.899C>A (p.Pro300Gln) | |
19 | g.10457903C= | CA2322438458 | PDE4A | c.902C= (p.Pro301=) c.824C= (p.Pro275=) c.185C= (p.Pro62=) c.719C= (p.Pro240=) n.165C= c.160+2981C= (n.160+2981C=) c.230C= (p.Pro77=) c.836C= (p.Pro279=) c.-11C= (n.-11C=) c.899C= (p.Pro300=) | |
19 | g.10457903C>G | CA404000391 | PDE4A | c.902C>G (p.Pro301Arg) c.824C>G (p.Pro275Arg) c.185C>G (p.Pro62Arg) c.719C>G (p.Pro240Arg) n.165C>G c.160+2981C>G (n.160+2981C>G) c.230C>G (p.Pro77Arg) c.836C>G (p.Pro279Arg) c.-11C>G (n.-11C>G) c.899C>G (p.Pro300Arg) | |
19 | g.10457903C>T | CA404000393 | PDE4A | c.902C>T (p.Pro301Leu) c.824C>T (p.Pro275Leu) c.185C>T (p.Pro62Leu) c.719C>T (p.Pro240Leu) n.165C>T c.160+2981C>T (n.160+2981C>T) c.230C>T (p.Pro77Leu) c.836C>T (p.Pro279Leu) c.-11C>T (n.-11C>T) c.899C>T (p.Pro300Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457904A>C | CA505382614 | PDE4A | c.903A>C (p.Pro301=) c.825A>C (p.Pro275=) c.186A>C (p.Pro62=) c.720A>C (p.Pro240=) n.166A>C c.160+2982A>C (n.160+2982A>C) c.231A>C (p.Pro77=) c.837A>C (p.Pro279=) c.-10A>C (n.-10A>C) c.900A>C (p.Pro300=) | |
19 | g.10457904A>G | CA505382615 | PDE4A | c.903A>G (p.Pro301=) c.825A>G (p.Pro275=) c.186A>G (p.Pro62=) c.720A>G (p.Pro240=) n.166A>G c.160+2982A>G (n.160+2982A>G) c.231A>G (p.Pro77=) c.837A>G (p.Pro279=) c.-10A>G (n.-10A>G) c.900A>G (p.Pro300=) | |
19 | g.10457904A>T | CA505382616 | PDE4A | c.903A>T (p.Pro301=) c.825A>T (p.Pro275=) c.186A>T (p.Pro62=) c.720A>T (p.Pro240=) n.166A>T c.160+2982A>T (n.160+2982A>T) c.231A>T (p.Pro77=) c.837A>T (p.Pro279=) c.-10A>T (n.-10A>T) c.900A>T (p.Pro300=) | |
19 | g.10457905T>A | CA404000395 | PDE4A | c.904T>A (p.Ser302Thr) c.826T>A (p.Ser276Thr) c.187T>A (p.Ser63Thr) c.721T>A (p.Ser241Thr) n.167T>A c.160+2983T>A (n.160+2983T>A) c.232T>A (p.Ser78Thr) c.838T>A (p.Ser280Thr) c.-9T>A (n.-9T>A) c.901T>A (p.Ser301Thr) | |
19 | g.10457905T>C | CA404000396 | PDE4A | c.904T>C (p.Ser302Pro) c.826T>C (p.Ser276Pro) c.187T>C (p.Ser63Pro) c.721T>C (p.Ser241Pro) n.167T>C c.160+2983T>C (n.160+2983T>C) c.232T>C (p.Ser78Pro) c.838T>C (p.Ser280Pro) c.-9T>C (n.-9T>C) c.901T>C (p.Ser301Pro) | gnomAD v4 |
19 | g.10457905T>G | CA404000399 | PDE4A | c.904T>G (p.Ser302Ala) c.826T>G (p.Ser276Ala) c.187T>G (p.Ser63Ala) c.721T>G (p.Ser241Ala) n.167T>G c.160+2983T>G (n.160+2983T>G) c.232T>G (p.Ser78Ala) c.838T>G (p.Ser280Ala) c.-9T>G (n.-9T>G) c.901T>G (p.Ser301Ala) | |
19 | g.10457906C>A | CA404000401 | PDE4A | c.905C>A (p.Ser302Ter) c.827C>A (p.Ser276Ter) c.188C>A (p.Ser63Ter) c.722C>A (p.Ser241Ter) n.168C>A c.160+2984C>A (n.160+2984C>A) c.233C>A (p.Ser78Ter) c.839C>A (p.Ser280Ter) c.-8C>A (n.-8C>A) c.902C>A (p.Ser301Ter) | |
19 | g.10457906C= | CA2322438459 | PDE4A | c.905C= (p.Ser302=) c.827C= (p.Ser276=) c.188C= (p.Ser63=) c.722C= (p.Ser241=) n.168C= c.160+2984C= (n.160+2984C=) c.233C= (p.Ser78=) c.839C= (p.Ser280=) c.-8C= (n.-8C=) c.902C= (p.Ser301=) | |
19 | g.10457906C>G | CA404000403 | PDE4A | c.905C>G (p.Ser302Ter) c.827C>G (p.Ser276Ter) c.188C>G (p.Ser63Ter) c.722C>G (p.Ser241Ter) n.168C>G c.160+2984C>G (n.160+2984C>G) c.233C>G (p.Ser78Ter) c.839C>G (p.Ser280Ter) c.-8C>G (n.-8C>G) c.902C>G (p.Ser301Ter) | |
19 | g.10457906C>T | CA305219042 | PDE4A | c.905C>T (p.Ser302Leu) c.827C>T (p.Ser276Leu) c.188C>T (p.Ser63Leu) c.722C>T (p.Ser241Leu) n.168C>T c.160+2984C>T (n.160+2984C>T) c.233C>T (p.Ser78Leu) c.839C>T (p.Ser280Leu) c.-8C>T (n.-8C>T) c.902C>T (p.Ser301Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457907A= | CA2322438460 | PDE4A | c.906A= (p.Ser302=) c.828A= (p.Ser276=) c.189A= (p.Ser63=) c.723A= (p.Ser241=) n.169A= c.160+2985A= (n.160+2985A=) c.234A= (p.Ser78=) c.840A= (p.Ser280=) c.-7A= (n.-7A=) c.903A= (p.Ser301=) | |
19 | g.10457907A>C | CA505382638 | PDE4A | c.906A>C (p.Ser302=) c.828A>C (p.Ser276=) c.189A>C (p.Ser63=) c.723A>C (p.Ser241=) n.169A>C c.160+2985A>C (n.160+2985A>C) c.234A>C (p.Ser78=) c.840A>C (p.Ser280=) c.-7A>C (n.-7A>C) c.903A>C (p.Ser301=) | |
19 | g.10457907A>G | CA9194835 | PDE4A | c.906A>G (p.Ser302=) c.828A>G (p.Ser276=) c.189A>G (p.Ser63=) c.723A>G (p.Ser241=) n.169A>G c.160+2985A>G (n.160+2985A>G) c.234A>G (p.Ser78=) c.840A>G (p.Ser280=) c.-7A>G (n.-7A>G) c.903A>G (p.Ser301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457907A>T | CA505382639 | PDE4A | c.906A>T (p.Ser302=) c.828A>T (p.Ser276=) c.189A>T (p.Ser63=) c.723A>T (p.Ser241=) n.169A>T c.160+2985A>T (n.160+2985A>T) c.234A>T (p.Ser78=) c.840A>T (p.Ser280=) c.-7A>T (n.-7A>T) c.903A>T (p.Ser301=) | |
19 | g.10457908C>A | CA404000408 | PDE4A | c.907C>A (p.Pro303Thr) c.829C>A (p.Pro277Thr) c.190C>A (p.Pro64Thr) c.724C>A (p.Pro242Thr) n.170C>A c.160+2986C>A (n.160+2986C>A) c.235C>A (p.Pro79Thr) c.841C>A (p.Pro281Thr) c.-6C>A (n.-6C>A) c.904C>A (p.Pro302Thr) | |
19 | g.10457908C= | CA2322438461 | PDE4A | c.907C= (p.Pro303=) c.829C= (p.Pro277=) c.190C= (p.Pro64=) c.724C= (p.Pro242=) n.170C= c.160+2986C= (n.160+2986C=) c.235C= (p.Pro79=) c.841C= (p.Pro281=) c.-6C= (n.-6C=) c.904C= (p.Pro302=) | |
19 | g.10457908C>G | CA9194836 | PDE4A | c.907C>G (p.Pro303Ala) c.829C>G (p.Pro277Ala) c.190C>G (p.Pro64Ala) c.724C>G (p.Pro242Ala) n.170C>G c.160+2986C>G (n.160+2986C>G) c.235C>G (p.Pro79Ala) c.841C>G (p.Pro281Ala) c.-6C>G (n.-6C>G) c.904C>G (p.Pro302Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.10457908C>T | CA305219046 | PDE4A | c.907C>T (p.Pro303Ser) c.829C>T (p.Pro277Ser) c.190C>T (p.Pro64Ser) c.724C>T (p.Pro242Ser) n.170C>T c.160+2986C>T (n.160+2986C>T) c.235C>T (p.Pro79Ser) c.841C>T (p.Pro281Ser) c.-6C>T (n.-6C>T) c.904C>T (p.Pro302Ser) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10457909C>A | CA404000412 | PDE4A | c.908C>A (p.Pro303His) c.830C>A (p.Pro277His) c.191C>A (p.Pro64His) c.725C>A (p.Pro242His) n.171C>A c.160+2987C>A (n.160+2987C>A) c.236C>A (p.Pro79His) c.842C>A (p.Pro281His) c.-5C>A (n.-5C>A) c.905C>A (p.Pro302His) | |
19 | g.10457909C= | CA2322438462 | PDE4A | c.908C= (p.Pro303=) c.830C= (p.Pro277=) c.191C= (p.Pro64=) c.725C= (p.Pro242=) n.171C= c.160+2987C= (n.160+2987C=) c.236C= (p.Pro79=) c.842C= (p.Pro281=) c.-5C= (n.-5C=) c.905C= (p.Pro302=) | |
19 | g.10457909C>G | CA404000415 | PDE4A | c.908C>G (p.Pro303Arg) c.830C>G (p.Pro277Arg) c.191C>G (p.Pro64Arg) c.725C>G (p.Pro242Arg) n.171C>G c.160+2987C>G (n.160+2987C>G) c.236C>G (p.Pro79Arg) c.842C>G (p.Pro281Arg) c.-5C>G (n.-5C>G) c.905C>G (p.Pro302Arg) | |
19 | g.10457909C>T | CA305219051 | PDE4A | c.908C>T (p.Pro303Leu) c.830C>T (p.Pro277Leu) c.191C>T (p.Pro64Leu) c.725C>T (p.Pro242Leu) n.171C>T c.160+2987C>T (n.160+2987C>T) c.236C>T (p.Pro79Leu) c.842C>T (p.Pro281Leu) c.-5C>T (n.-5C>T) c.905C>T (p.Pro302Leu) | dbSNP gnomAD v4 |
19 | g.10457910C>A | CA505382640 | PDE4A | c.909C>A (p.Pro303=) c.831C>A (p.Pro277=) c.192C>A (p.Pro64=) c.726C>A (p.Pro242=) n.172C>A c.160+2988C>A (n.160+2988C>A) c.237C>A (p.Pro79=) c.843C>A (p.Pro281=) c.-4C>A (n.-4C>A) c.906C>A (p.Pro302=) | |
19 | g.10457910C>G | CA505382641 | PDE4A | c.909C>G (p.Pro303=) c.831C>G (p.Pro277=) c.192C>G (p.Pro64=) c.726C>G (p.Pro242=) n.172C>G c.160+2988C>G (n.160+2988C>G) c.237C>G (p.Pro79=) c.843C>G (p.Pro281=) c.-4C>G (n.-4C>G) c.906C>G (p.Pro302=) | |
19 | g.10457910C>T | CA505382642 | PDE4A | c.909C>T (p.Pro303=) c.831C>T (p.Pro277=) c.192C>T (p.Pro64=) c.726C>T (p.Pro242=) n.172C>T c.160+2988C>T (n.160+2988C>T) c.237C>T (p.Pro79=) c.843C>T (p.Pro281=) c.-4C>T (n.-4C>T) c.906C>T (p.Pro302=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
19 | g.10457911A>C | CA404000421 | PDE4A | c.910A>C (p.Thr304Pro) c.832A>C (p.Thr278Pro) c.193A>C (p.Thr65Pro) c.727A>C (p.Thr243Pro) n.173A>C c.160+2989A>C (n.160+2989A>C) c.238A>C (p.Thr80Pro) c.844A>C (p.Thr282Pro) c.-3A>C (n.-3A>C) c.907A>C (p.Thr303Pro) | |
19 | g.10457911A>G | CA404000424 | PDE4A | c.910A>G (p.Thr304Ala) c.832A>G (p.Thr278Ala) c.193A>G (p.Thr65Ala) c.727A>G (p.Thr243Ala) n.173A>G c.160+2989A>G (n.160+2989A>G) c.238A>G (p.Thr80Ala) c.844A>G (p.Thr282Ala) c.-3A>G (n.-3A>G) c.907A>G (p.Thr303Ala) | |
19 | g.10457911A>T | CA404000419 | PDE4A | c.910A>T (p.Thr304Ser) c.832A>T (p.Thr278Ser) c.193A>T (p.Thr65Ser) c.727A>T (p.Thr243Ser) n.173A>T c.160+2989A>T (n.160+2989A>T) c.238A>T (p.Thr80Ser) c.844A>T (p.Thr282Ser) c.-3A>T (n.-3A>T) c.907A>T (p.Thr303Ser) | |
19 | g.10457912C>A | CA404000427 | PDE4A | c.911C>A (p.Thr304Lys) c.833C>A (p.Thr278Lys) c.194C>A (p.Thr65Lys) c.728C>A (p.Thr243Lys) n.174C>A c.160+2990C>A (n.160+2990C>A) c.239C>A (p.Thr80Lys) c.845C>A (p.Thr282Lys) c.-2C>A (n.-2C>A) c.908C>A (p.Thr303Lys) | |
19 | g.10457912C= | CA2322438463 | PDE4A | c.911C= (p.Thr304=) c.833C= (p.Thr278=) c.194C= (p.Thr65=) c.728C= (p.Thr243=) n.174C= c.160+2990C= (n.160+2990C=) c.239C= (p.Thr80=) c.845C= (p.Thr282=) c.-2C= (n.-2C=) c.908C= (p.Thr303=) | |
19 | g.10457912C>G | CA404000432 | PDE4A | c.911C>G (p.Thr304Arg) c.833C>G (p.Thr278Arg) c.194C>G (p.Thr65Arg) c.728C>G (p.Thr243Arg) n.174C>G c.160+2990C>G (n.160+2990C>G) c.239C>G (p.Thr80Arg) c.845C>G (p.Thr282Arg) c.-2C>G (n.-2C>G) c.908C>G (p.Thr303Arg) | gnomAD v4 |
19 | g.10457912C>T | CA9194837 | PDE4A | c.911C>T (p.Thr304Met) c.833C>T (p.Thr278Met) c.194C>T (p.Thr65Met) c.728C>T (p.Thr243Met) n.174C>T c.160+2990C>T (n.160+2990C>T) c.239C>T (p.Thr80Met) c.845C>T (p.Thr282Met) c.-2C>T (n.-2C>T) c.908C>T (p.Thr303Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457913G>A | CA9194838 | PDE4A | c.912G>A (p.Thr304=) c.834G>A (p.Thr278=) c.195G>A (p.Thr65=) c.729G>A (p.Thr243=) n.175G>A c.160+2991G>A (n.160+2991G>A) c.240G>A (p.Thr80=) c.846G>A (p.Thr282=) c.-1G>A (n.-1G>A) c.909G>A (p.Thr303=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457913G>C | CA505382643 | PDE4A | c.912G>C (p.Thr304=) c.834G>C (p.Thr278=) c.195G>C (p.Thr65=) c.729G>C (p.Thr243=) n.175G>C c.160+2991G>C (n.160+2991G>C) c.240G>C (p.Thr80=) c.846G>C (p.Thr282=) c.-1G>C (n.-1G>C) c.909G>C (p.Thr303=) | gnomAD v4 |
19 | g.10457913G= | CA2322438464 | PDE4A | c.912G= (p.Thr304=) c.834G= (p.Thr278=) c.195G= (p.Thr65=) c.729G= (p.Thr243=) n.175G= c.160+2991G= (n.160+2991G=) c.240G= (p.Thr80=) c.846G= (p.Thr282=) c.-1G= (n.-1G=) c.909G= (p.Thr303=) | |
19 | g.10457913G>T | CA505382644 | PDE4A | c.912G>T (p.Thr304=) c.834G>T (p.Thr278=) c.195G>T (p.Thr65=) c.729G>T (p.Thr243=) n.175G>T c.160+2991G>T (n.160+2991G>T) c.240G>T (p.Thr80=) c.846G>T (p.Thr282=) c.-1G>T (n.-1G>T) c.909G>T (p.Thr303=) | |
19 | g.10457914A>C | CA404000438 | PDE4A | c.913A>C (p.Met305Leu) c.835A>C (p.Met279Leu) c.196A>C (p.Met66Leu) c.730A>C (p.Met244Leu) n.176A>C c.160+2992A>C (n.160+2992A>C) c.241A>C (p.Met81Leu) c.847A>C (p.Met283Leu) c.1A>C (p.Met1Leu) c.910A>C (p.Met304Leu) | |
19 | g.10457914A>G | CA404000439 | PDE4A | c.913A>G (p.Met305Val) c.835A>G (p.Met279Val) c.196A>G (p.Met66Val) c.730A>G (p.Met244Val) n.176A>G c.160+2992A>G (n.160+2992A>G) c.241A>G (p.Met81Val) c.847A>G (p.Met283Val) c.1A>G (p.Met1Val) c.910A>G (p.Met304Val) | |
19 | g.10457914A>T | CA404000442 | PDE4A | c.913A>T (p.Met305Leu) c.835A>T (p.Met279Leu) c.196A>T (p.Met66Leu) c.730A>T (p.Met244Leu) n.176A>T c.160+2992A>T (n.160+2992A>T) c.241A>T (p.Met81Leu) c.847A>T (p.Met283Leu) c.1A>T (p.Met1Leu) c.910A>T (p.Met304Leu) | |
19 | g.10457915T>A | CA404000446 | PDE4A | c.914T>A (p.Met305Lys) c.836T>A (p.Met279Lys) c.197T>A (p.Met66Lys) c.731T>A (p.Met244Lys) n.177T>A c.160+2993T>A (n.160+2993T>A) c.242T>A (p.Met81Lys) c.848T>A (p.Met283Lys) c.2T>A (p.Met1Lys) c.911T>A (p.Met304Lys) | |
19 | g.10457915T>C | CA404000448 | PDE4A | c.914T>C (p.Met305Thr) c.836T>C (p.Met279Thr) c.197T>C (p.Met66Thr) c.731T>C (p.Met244Thr) n.177T>C c.160+2993T>C (n.160+2993T>C) c.242T>C (p.Met81Thr) c.848T>C (p.Met283Thr) c.2T>C (p.Met1Thr) c.911T>C (p.Met304Thr) | |
19 | g.10457915T>G | CA404000451 | PDE4A | c.914T>G (p.Met305Arg) c.836T>G (p.Met279Arg) c.197T>G (p.Met66Arg) c.731T>G (p.Met244Arg) n.177T>G c.160+2993T>G (n.160+2993T>G) c.242T>G (p.Met81Arg) c.848T>G (p.Met283Arg) c.2T>G (p.Met1Arg) c.911T>G (p.Met304Arg) | dbSNP |
19 | g.10457915T= | CA2322438465 | PDE4A | c.914T= (p.Met305=) c.836T= (p.Met279=) c.197T= (p.Met66=) c.731T= (p.Met244=) n.177T= c.160+2993T= (n.160+2993T=) c.242T= (p.Met81=) c.848T= (p.Met283=) c.2T= (p.Met1=) c.911T= (p.Met304=) | |
19 | g.10457916G>A | CA305219061 | PDE4A | c.915G>A (p.Met305Ile) c.837G>A (p.Met279Ile) c.198G>A (p.Met66Ile) c.732G>A (p.Met244Ile) n.178G>A c.160+2994G>A (n.160+2994G>A) c.243G>A (p.Met81Ile) c.849G>A (p.Met283Ile) c.3G>A (p.Met1Ile) c.912G>A (p.Met304Ile) | dbSNP gnomAD v4 |
19 | g.10457916G>C | CA305219068 | PDE4A | c.915G>C (p.Met305Ile) c.837G>C (p.Met279Ile) c.198G>C (p.Met66Ile) c.732G>C (p.Met244Ile) n.178G>C c.160+2994G>C (n.160+2994G>C) c.243G>C (p.Met81Ile) c.849G>C (p.Met283Ile) c.3G>C (p.Met1Ile) c.912G>C (p.Met304Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10457916G= | CA2322438466 | PDE4A | c.915G= (p.Met305=) c.837G= (p.Met279=) c.198G= (p.Met66=) c.732G= (p.Met244=) n.178G= c.160+2994G= (n.160+2994G=) c.243G= (p.Met81=) c.849G= (p.Met283=) c.3G= (p.Met1=) c.912G= (p.Met304=) | |
19 | g.10457916G>T | CA404000457 | PDE4A | c.915G>T (p.Met305Ile) c.837G>T (p.Met279Ile) c.198G>T (p.Met66Ile) c.732G>T (p.Met244Ile) n.178G>T c.160+2994G>T (n.160+2994G>T) c.243G>T (p.Met81Ile) c.849G>T (p.Met283Ile) c.3G>T (p.Met1Ile) c.912G>T (p.Met304Ile) | gnomAD v4 |
19 | g.10457917A>C | CA404000460 | PDE4A | c.916A>C (p.Lys306Gln) c.838A>C (p.Lys280Gln) c.199A>C (p.Lys67Gln) c.733A>C (p.Lys245Gln) n.179A>C c.160+2995A>C (n.160+2995A>C) c.244A>C (p.Lys82Gln) c.850A>C (p.Lys284Gln) c.4A>C (p.Lys2Gln) c.913A>C (p.Lys305Gln) | |
19 | g.10457917A>G | CA404000462 | PDE4A | c.916A>G (p.Lys306Glu) c.838A>G (p.Lys280Glu) c.199A>G (p.Lys67Glu) c.733A>G (p.Lys245Glu) n.179A>G c.160+2995A>G (n.160+2995A>G) c.244A>G (p.Lys82Glu) c.850A>G (p.Lys284Glu) c.4A>G (p.Lys2Glu) c.913A>G (p.Lys305Glu) | |
19 | g.10457917A>T | CA404000464 | PDE4A | c.916A>T (p.Lys306Ter) c.838A>T (p.Lys280Ter) c.199A>T (p.Lys67Ter) c.733A>T (p.Lys245Ter) n.179A>T c.160+2995A>T (n.160+2995A>T) c.244A>T (p.Lys82Ter) c.850A>T (p.Lys284Ter) c.4A>T (p.Lys2Ter) c.913A>T (p.Lys305Ter) | |
19 | g.10457918A= | CA2322438467 | PDE4A | c.917A= (p.Lys306=) c.839A= (p.Lys280=) c.200A= (p.Lys67=) c.734A= (p.Lys245=) n.180A= c.160+2996A= (n.160+2996A=) c.245A= (p.Lys82=) c.851A= (p.Lys284=) c.5A= (p.Lys2=) c.914A= (p.Lys305=) | |
19 | g.10457918A>C | CA404000467 | PDE4A | c.917A>C (p.Lys306Thr) c.839A>C (p.Lys280Thr) c.200A>C (p.Lys67Thr) c.734A>C (p.Lys245Thr) n.180A>C c.160+2996A>C (n.160+2996A>C) c.245A>C (p.Lys82Thr) c.851A>C (p.Lys284Thr) c.5A>C (p.Lys2Thr) c.914A>C (p.Lys305Thr) | |
19 | g.10457918A>G | CA404000476 | PDE4A | c.917A>G (p.Lys306Arg) c.839A>G (p.Lys280Arg) c.200A>G (p.Lys67Arg) c.734A>G (p.Lys245Arg) n.180A>G c.160+2996A>G (n.160+2996A>G) c.245A>G (p.Lys82Arg) c.851A>G (p.Lys284Arg) c.5A>G (p.Lys2Arg) c.914A>G (p.Lys305Arg) | dbSNP gnomAD v2 |
19 | g.10457918A>T | CA404000474 | PDE4A | c.917A>T (p.Lys306Met) c.839A>T (p.Lys280Met) c.200A>T (p.Lys67Met) c.734A>T (p.Lys245Met) n.180A>T c.160+2996A>T (n.160+2996A>T) c.245A>T (p.Lys82Met) c.851A>T (p.Lys284Met) c.5A>T (p.Lys2Met) c.914A>T (p.Lys305Met) | |
19 | g.10457919G>A | CA9194839 | PDE4A | c.918G>A (p.Lys306=) c.840G>A (p.Lys280=) c.201G>A (p.Lys67=) c.735G>A (p.Lys245=) n.181G>A c.160+2997G>A (n.160+2997G>A) c.246G>A (p.Lys82=) c.852G>A (p.Lys284=) c.6G>A (p.Lys2=) c.915G>A (p.Lys305=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457919G>C | CA404000479 | PDE4A | c.918G>C (p.Lys306Asn) c.840G>C (p.Lys280Asn) c.201G>C (p.Lys67Asn) c.735G>C (p.Lys245Asn) n.181G>C c.160+2997G>C (n.160+2997G>C) c.246G>C (p.Lys82Asn) c.852G>C (p.Lys284Asn) c.6G>C (p.Lys2Asn) c.915G>C (p.Lys305Asn) | |
19 | g.10457919G= | CA2322438468 | PDE4A | c.918G= (p.Lys306=) c.840G= (p.Lys280=) c.201G= (p.Lys67=) c.735G= (p.Lys245=) n.181G= c.160+2997G= (n.160+2997G=) c.246G= (p.Lys82=) c.852G= (p.Lys284=) c.6G= (p.Lys2=) c.915G= (p.Lys305=) | |
19 | g.10457919G>T | CA404000481 | PDE4A | c.918G>T (p.Lys306Asn) c.840G>T (p.Lys280Asn) c.201G>T (p.Lys67Asn) c.735G>T (p.Lys245Asn) n.181G>T c.160+2997G>T (n.160+2997G>T) c.246G>T (p.Lys82Asn) c.852G>T (p.Lys284Asn) c.6G>T (p.Lys2Asn) c.915G>T (p.Lys305Asn) | |
19 | g.10457920G>A | CA9194840 | PDE4A | c.919G>A (p.Glu307Lys) c.841G>A (p.Glu281Lys) c.202G>A (p.Glu68Lys) c.736G>A (p.Glu246Lys) n.182G>A c.160+2998G>A (n.160+2998G>A) c.247G>A (p.Glu83Lys) c.853G>A (p.Glu285Lys) c.7G>A (p.Glu3Lys) c.916G>A (p.Glu306Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457920G>C | CA404000484 | PDE4A | c.919G>C (p.Glu307Gln) c.841G>C (p.Glu281Gln) c.202G>C (p.Glu68Gln) c.736G>C (p.Glu246Gln) n.182G>C c.160+2998G>C (n.160+2998G>C) c.247G>C (p.Glu83Gln) c.853G>C (p.Glu285Gln) c.7G>C (p.Glu3Gln) c.916G>C (p.Glu306Gln) | |
19 | g.10457920G= | CA2322438469 | PDE4A | c.919G= (p.Glu307=) c.841G= (p.Glu281=) c.202G= (p.Glu68=) c.736G= (p.Glu246=) n.182G= c.160+2998G= (n.160+2998G=) c.247G= (p.Glu83=) c.853G= (p.Glu285=) c.7G= (p.Glu3=) c.916G= (p.Glu306=) | |
19 | g.10457920G>T | CA404000486 | PDE4A | c.919G>T (p.Glu307Ter) c.841G>T (p.Glu281Ter) c.202G>T (p.Glu68Ter) c.736G>T (p.Glu246Ter) n.182G>T c.160+2998G>T (n.160+2998G>T) c.247G>T (p.Glu83Ter) c.853G>T (p.Glu285Ter) c.7G>T (p.Glu3Ter) c.916G>T (p.Glu306Ter) | |
19 | g.10457921A>C | CA404000489 | PDE4A | c.920A>C (p.Glu307Ala) c.842A>C (p.Glu281Ala) c.203A>C (p.Glu68Ala) c.737A>C (p.Glu246Ala) n.183A>C c.160+2999A>C (n.160+2999A>C) c.248A>C (p.Glu83Ala) c.854A>C (p.Glu285Ala) c.8A>C (p.Glu3Ala) c.917A>C (p.Glu306Ala) | |
19 | g.10457921A>G | CA404000492 | PDE4A | c.920A>G (p.Glu307Gly) c.842A>G (p.Glu281Gly) c.203A>G (p.Glu68Gly) c.737A>G (p.Glu246Gly) n.183A>G c.160+2999A>G (n.160+2999A>G) c.248A>G (p.Glu83Gly) c.854A>G (p.Glu285Gly) c.8A>G (p.Glu3Gly) c.917A>G (p.Glu306Gly) | |
19 | g.10457921A>T | CA404000495 | PDE4A | c.920A>T (p.Glu307Val) c.842A>T (p.Glu281Val) c.203A>T (p.Glu68Val) c.737A>T (p.Glu246Val) n.183A>T c.160+2999A>T (n.160+2999A>T) c.248A>T (p.Glu83Val) c.854A>T (p.Glu285Val) c.8A>T (p.Glu3Val) c.917A>T (p.Glu306Val) | |
19 | g.10457922A>C | CA404000497 | PDE4A | c.921A>C (p.Glu307Asp) c.843A>C (p.Glu281Asp) c.204A>C (p.Glu68Asp) c.738A>C (p.Glu246Asp) n.184A>C c.160+3000A>C (n.160+3000A>C) c.249A>C (p.Glu83Asp) c.855A>C (p.Glu285Asp) c.9A>C (p.Glu3Asp) c.918A>C (p.Glu306Asp) | |
19 | g.10457922A>G | CA505382645 | PDE4A | c.921A>G (p.Glu307=) c.843A>G (p.Glu281=) c.204A>G (p.Glu68=) c.738A>G (p.Glu246=) n.184A>G c.160+3000A>G (n.160+3000A>G) c.249A>G (p.Glu83=) c.855A>G (p.Glu285=) c.9A>G (p.Glu3=) c.918A>G (p.Glu306=) | |
19 | g.10457922A>T | CA404000498 | PDE4A | c.921A>T (p.Glu307Asp) c.843A>T (p.Glu281Asp) c.204A>T (p.Glu68Asp) c.738A>T (p.Glu246Asp) n.184A>T c.160+3000A>T (n.160+3000A>T) c.249A>T (p.Glu83Asp) c.855A>T (p.Glu285Asp) c.9A>T (p.Glu3Asp) c.918A>T (p.Glu306Asp) | |
19 | g.10457923C>A | CA505382646 | PDE4A | c.922C>A (p.Arg308=) c.844C>A (p.Arg282=) c.205C>A (p.Arg69=) c.739C>A (p.Arg247=) n.185C>A c.160+3001C>A (n.160+3001C>A) c.250C>A (p.Arg84=) c.856C>A (p.Arg286=) c.10C>A (p.Arg4=) c.919C>A (p.Arg307=) | |
19 | g.10457923C= | CA2322438470 | PDE4A | c.922C= (p.Arg308=) c.844C= (p.Arg282=) c.205C= (p.Arg69=) c.739C= (p.Arg247=) n.185C= c.160+3001C= (n.160+3001C=) c.250C= (p.Arg84=) c.856C= (p.Arg286=) c.10C= (p.Arg4=) c.919C= (p.Arg307=) | |
19 | g.10457923C>G | CA9194841 | PDE4A | c.922C>G (p.Arg308Gly) c.844C>G (p.Arg282Gly) c.205C>G (p.Arg69Gly) c.739C>G (p.Arg247Gly) n.185C>G c.160+3001C>G (n.160+3001C>G) c.250C>G (p.Arg84Gly) c.856C>G (p.Arg286Gly) c.10C>G (p.Arg4Gly) c.919C>G (p.Arg307Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457923C>T | CA404000501 | PDE4A | c.922C>T (p.Arg308Ter) c.844C>T (p.Arg282Ter) c.205C>T (p.Arg69Ter) c.739C>T (p.Arg247Ter) n.185C>T c.160+3001C>T (n.160+3001C>T) c.250C>T (p.Arg84Ter) c.856C>T (p.Arg286Ter) c.10C>T (p.Arg4Ter) c.919C>T (p.Arg307Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457924G>A | CA9194842 | PDE4A | c.923G>A (p.Arg308Gln) c.845G>A (p.Arg282Gln) c.206G>A (p.Arg69Gln) c.740G>A (p.Arg247Gln) n.186G>A c.160+3002G>A (n.160+3002G>A) c.251G>A (p.Arg84Gln) c.857G>A (p.Arg286Gln) c.11G>A (p.Arg4Gln) c.920G>A (p.Arg307Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457924G>C | CA404000508 | PDE4A | c.923G>C (p.Arg308Pro) c.845G>C (p.Arg282Pro) c.206G>C (p.Arg69Pro) c.740G>C (p.Arg247Pro) n.186G>C c.160+3002G>C (n.160+3002G>C) c.251G>C (p.Arg84Pro) c.857G>C (p.Arg286Pro) c.11G>C (p.Arg4Pro) c.920G>C (p.Arg307Pro) | |
19 | g.10457924G= | CA2322438471 | PDE4A | c.923G= (p.Arg308=) c.845G= (p.Arg282=) c.206G= (p.Arg69=) c.740G= (p.Arg247=) n.186G= c.160+3002G= (n.160+3002G=) c.251G= (p.Arg84=) c.857G= (p.Arg286=) c.11G= (p.Arg4=) c.920G= (p.Arg307=) | |
19 | g.10457924G>T | CA404000511 | PDE4A | c.923G>T (p.Arg308Leu) c.845G>T (p.Arg282Leu) c.206G>T (p.Arg69Leu) c.740G>T (p.Arg247Leu) n.186G>T c.160+3002G>T (n.160+3002G>T) c.251G>T (p.Arg84Leu) c.857G>T (p.Arg286Leu) c.11G>T (p.Arg4Leu) c.920G>T (p.Arg307Leu) | |
19 | g.10457925A>C | CA505382648 | PDE4A | c.924A>C (p.Arg308=) c.846A>C (p.Arg282=) c.207A>C (p.Arg69=) c.741A>C (p.Arg247=) n.187A>C c.160+3003A>C (n.160+3003A>C) c.252A>C (p.Arg84=) c.858A>C (p.Arg286=) c.12A>C (p.Arg4=) c.921A>C (p.Arg307=) | |
19 | g.10457925A>G | CA505382649 | PDE4A | c.924A>G (p.Arg308=) c.846A>G (p.Arg282=) c.207A>G (p.Arg69=) c.741A>G (p.Arg247=) n.187A>G c.160+3003A>G (n.160+3003A>G) c.252A>G (p.Arg84=) c.858A>G (p.Arg286=) c.12A>G (p.Arg4=) c.921A>G (p.Arg307=) | |
19 | g.10457925A>T | CA505382647 | PDE4A | c.924A>T (p.Arg308=) c.846A>T (p.Arg282=) c.207A>T (p.Arg69=) c.741A>T (p.Arg247=) n.187A>T c.160+3003A>T (n.160+3003A>T) c.252A>T (p.Arg84=) c.858A>T (p.Arg286=) c.12A>T (p.Arg4=) c.921A>T (p.Arg307=) | |
19 | g.10457926G>A | CA404000514 | PDE4A | c.925G>A (p.Glu309Lys) c.847G>A (p.Glu283Lys) c.208G>A (p.Glu70Lys) c.742G>A (p.Glu248Lys) n.188G>A c.160+3004G>A (n.160+3004G>A) c.253G>A (p.Glu85Lys) c.859G>A (p.Glu287Lys) c.13G>A (p.Glu5Lys) c.922G>A (p.Glu308Lys) | |
19 | g.10457926G>C | CA404000517 | PDE4A | c.925G>C (p.Glu309Gln) c.847G>C (p.Glu283Gln) c.208G>C (p.Glu70Gln) c.742G>C (p.Glu248Gln) n.188G>C c.160+3004G>C (n.160+3004G>C) c.253G>C (p.Glu85Gln) c.859G>C (p.Glu287Gln) c.13G>C (p.Glu5Gln) c.922G>C (p.Glu308Gln) | |
19 | g.10457926G>T | CA404000520 | PDE4A | c.925G>T (p.Glu309Ter) c.847G>T (p.Glu283Ter) c.208G>T (p.Glu70Ter) c.742G>T (p.Glu248Ter) n.188G>T c.160+3004G>T (n.160+3004G>T) c.253G>T (p.Glu85Ter) c.859G>T (p.Glu287Ter) c.13G>T (p.Glu5Ter) c.922G>T (p.Glu308Ter) | |
19 | g.10457927A>C | CA404000527 | PDE4A | c.926A>C (p.Glu309Ala) c.848A>C (p.Glu283Ala) c.209A>C (p.Glu70Ala) c.743A>C (p.Glu248Ala) n.189A>C c.160+3005A>C (n.160+3005A>C) c.254A>C (p.Glu85Ala) c.860A>C (p.Glu287Ala) c.14A>C (p.Glu5Ala) c.923A>C (p.Glu308Ala) | |
19 | g.10457927A>G | CA404000522 | PDE4A | c.926A>G (p.Glu309Gly) c.848A>G (p.Glu283Gly) c.209A>G (p.Glu70Gly) c.743A>G (p.Glu248Gly) n.189A>G c.160+3005A>G (n.160+3005A>G) c.254A>G (p.Glu85Gly) c.860A>G (p.Glu287Gly) c.14A>G (p.Glu5Gly) c.923A>G (p.Glu308Gly) | |
19 | g.10457927A>T | CA404000525 | PDE4A | c.926A>T (p.Glu309Val) c.848A>T (p.Glu283Val) c.209A>T (p.Glu70Val) c.743A>T (p.Glu248Val) n.189A>T c.160+3005A>T (n.160+3005A>T) c.254A>T (p.Glu85Val) c.860A>T (p.Glu287Val) c.14A>T (p.Glu5Val) c.923A>T (p.Glu308Val) | |
19 | g.10457931del | CA505382650 | PDE4A | c.930del (p.Lys310AsnfsTer29) c.852del (p.Lys284AsnfsTer29) c.213del (p.Lys71AsnfsTer29) c.747del (p.Lys249AsnfsTer29) n.193del c.160+3009del (n.160+3009del) c.258del (p.Lys86AsnfsTer29) c.864del (p.Lys288AsnfsTer29) c.18del (p.Lys6AsnfsTer29) c.927del (p.Lys309AsnfsTer29) | COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457928A>C | CA404000530 | PDE4A | c.927A>C (p.Glu309Asp) c.849A>C (p.Glu283Asp) c.210A>C (p.Glu70Asp) c.744A>C (p.Glu248Asp) n.190A>C c.160+3006A>C (n.160+3006A>C) c.255A>C (p.Glu85Asp) c.861A>C (p.Glu287Asp) c.15A>C (p.Glu5Asp) c.924A>C (p.Glu308Asp) | |
19 | g.10457928A>G | CA505382651 | PDE4A | c.927A>G (p.Glu309=) c.849A>G (p.Glu283=) c.210A>G (p.Glu70=) c.744A>G (p.Glu248=) n.190A>G c.160+3006A>G (n.160+3006A>G) c.255A>G (p.Glu85=) c.861A>G (p.Glu287=) c.15A>G (p.Glu5=) c.924A>G (p.Glu308=) | |
19 | g.10457928A>T | CA404000533 | PDE4A | c.927A>T (p.Glu309Asp) c.849A>T (p.Glu283Asp) c.210A>T (p.Glu70Asp) c.744A>T (p.Glu248Asp) n.190A>T c.160+3006A>T (n.160+3006A>T) c.255A>T (p.Glu85Asp) c.861A>T (p.Glu287Asp) c.15A>T (p.Glu5Asp) c.924A>T (p.Glu308Asp) | |
19 | g.10457929A>C | CA404000536 | PDE4A | c.928A>C (p.Lys310Gln) c.850A>C (p.Lys284Gln) c.211A>C (p.Lys71Gln) c.745A>C (p.Lys249Gln) n.191A>C c.160+3007A>C (n.160+3007A>C) c.256A>C (p.Lys86Gln) c.862A>C (p.Lys288Gln) c.16A>C (p.Lys6Gln) c.925A>C (p.Lys309Gln) | |
19 | g.10457929A>G | CA404000538 | PDE4A | c.928A>G (p.Lys310Glu) c.850A>G (p.Lys284Glu) c.211A>G (p.Lys71Glu) c.745A>G (p.Lys249Glu) n.191A>G c.160+3007A>G (n.160+3007A>G) c.256A>G (p.Lys86Glu) c.862A>G (p.Lys288Glu) c.16A>G (p.Lys6Glu) c.925A>G (p.Lys309Glu) | |
19 | g.10457929A>T | CA404000542 | PDE4A | c.928A>T (p.Lys310Ter) c.850A>T (p.Lys284Ter) c.211A>T (p.Lys71Ter) c.745A>T (p.Lys249Ter) n.191A>T c.160+3007A>T (n.160+3007A>T) c.256A>T (p.Lys86Ter) c.862A>T (p.Lys288Ter) c.16A>T (p.Lys6Ter) c.925A>T (p.Lys309Ter) | |
19 | g.10457930A>C | CA404000551 | PDE4A | c.929A>C (p.Lys310Thr) c.851A>C (p.Lys284Thr) c.212A>C (p.Lys71Thr) c.746A>C (p.Lys249Thr) n.192A>C c.160+3008A>C (n.160+3008A>C) c.257A>C (p.Lys86Thr) c.863A>C (p.Lys288Thr) c.17A>C (p.Lys6Thr) c.926A>C (p.Lys309Thr) | |
19 | g.10457930A>G | CA404000545 | PDE4A | c.929A>G (p.Lys310Arg) c.851A>G (p.Lys284Arg) c.212A>G (p.Lys71Arg) c.746A>G (p.Lys249Arg) n.192A>G c.160+3008A>G (n.160+3008A>G) c.257A>G (p.Lys86Arg) c.863A>G (p.Lys288Arg) c.17A>G (p.Lys6Arg) c.926A>G (p.Lys309Arg) | |
19 | g.10457930A>T | CA404000547 | PDE4A | c.929A>T (p.Lys310Ile) c.851A>T (p.Lys284Ile) c.212A>T (p.Lys71Ile) c.746A>T (p.Lys249Ile) n.192A>T c.160+3008A>T (n.160+3008A>T) c.257A>T (p.Lys86Ile) c.863A>T (p.Lys288Ile) c.17A>T (p.Lys6Ile) c.926A>T (p.Lys309Ile) | |
19 | g.10457931A>C | CA404000553 | PDE4A | c.930A>C (p.Lys310Asn) c.852A>C (p.Lys284Asn) c.213A>C (p.Lys71Asn) c.747A>C (p.Lys249Asn) n.193A>C c.160+3009A>C (n.160+3009A>C) c.258A>C (p.Lys86Asn) c.864A>C (p.Lys288Asn) c.18A>C (p.Lys6Asn) c.927A>C (p.Lys309Asn) | dbSNP |
19 | g.10457931A>G | CA505382652 | PDE4A | c.930A>G (p.Lys310=) c.852A>G (p.Lys284=) c.213A>G (p.Lys71=) c.747A>G (p.Lys249=) n.193A>G c.160+3009A>G (n.160+3009A>G) c.258A>G (p.Lys86=) c.864A>G (p.Lys288=) c.18A>G (p.Lys6=) c.927A>G (p.Lys309=) | |
19 | g.10457931A>T | CA404000556 | PDE4A | c.930A>T (p.Lys310Asn) c.852A>T (p.Lys284Asn) c.213A>T (p.Lys71Asn) c.747A>T (p.Lys249Asn) n.193A>T c.160+3009A>T (n.160+3009A>T) c.258A>T (p.Lys86Asn) c.864A>T (p.Lys288Asn) c.18A>T (p.Lys6Asn) c.927A>T (p.Lys309Asn) | |
19 | g.10457932C>A | CA404000559 | PDE4A | c.931C>A (p.Gln311Lys) c.853C>A (p.Gln285Lys) c.214C>A (p.Gln72Lys) c.748C>A (p.Gln250Lys) n.194C>A c.160+3010C>A (n.160+3010C>A) c.259C>A (p.Gln87Lys) c.865C>A (p.Gln289Lys) c.19C>A (p.Gln7Lys) c.928C>A (p.Gln310Lys) | gnomAD v4 |
19 | g.10457932C= | CA2322438472 | PDE4A | c.931C= (p.Gln311=) c.853C= (p.Gln285=) c.214C= (p.Gln72=) c.748C= (p.Gln250=) n.194C= c.160+3010C= (n.160+3010C=) c.259C= (p.Gln87=) c.865C= (p.Gln289=) c.19C= (p.Gln7=) c.928C= (p.Gln310=) | |
19 | g.10457932C>G | CA404000561 | PDE4A | c.931C>G (p.Gln311Glu) c.853C>G (p.Gln285Glu) c.214C>G (p.Gln72Glu) c.748C>G (p.Gln250Glu) n.194C>G c.160+3010C>G (n.160+3010C>G) c.259C>G (p.Gln87Glu) c.865C>G (p.Gln289Glu) c.19C>G (p.Gln7Glu) c.928C>G (p.Gln310Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
19 | g.10457932C>T | CA404000564 | PDE4A | c.931C>T (p.Gln311Ter) c.853C>T (p.Gln285Ter) c.214C>T (p.Gln72Ter) c.748C>T (p.Gln250Ter) n.194C>T c.160+3010C>T (n.160+3010C>T) c.259C>T (p.Gln87Ter) c.865C>T (p.Gln289Ter) c.19C>T (p.Gln7Ter) c.928C>T (p.Gln310Ter) | |
19 | g.10457933A= | CA2322438473 | PDE4A | c.932A= (p.Gln311=) c.854A= (p.Gln285=) c.215A= (p.Gln72=) c.749A= (p.Gln250=) n.195A= c.160+3011A= (n.160+3011A=) c.260A= (p.Gln87=) c.866A= (p.Gln289=) c.20A= (p.Gln7=) c.929A= (p.Gln310=) | |
19 | g.10457933A>C | CA404000566 | PDE4A | c.932A>C (p.Gln311Pro) c.854A>C (p.Gln285Pro) c.215A>C (p.Gln72Pro) c.749A>C (p.Gln250Pro) n.195A>C c.160+3011A>C (n.160+3011A>C) c.260A>C (p.Gln87Pro) c.866A>C (p.Gln289Pro) c.20A>C (p.Gln7Pro) c.929A>C (p.Gln310Pro) | |
19 | g.10457933A>G | CA404000568 | PDE4A | c.932A>G (p.Gln311Arg) c.854A>G (p.Gln285Arg) c.215A>G (p.Gln72Arg) c.749A>G (p.Gln250Arg) n.195A>G c.160+3011A>G (n.160+3011A>G) c.260A>G (p.Gln87Arg) c.866A>G (p.Gln289Arg) c.20A>G (p.Gln7Arg) c.929A>G (p.Gln310Arg) | dbSNP |
19 | g.10457933A>T | CA404000571 | PDE4A | c.932A>T (p.Gln311Leu) c.854A>T (p.Gln285Leu) c.215A>T (p.Gln72Leu) c.749A>T (p.Gln250Leu) n.195A>T c.160+3011A>T (n.160+3011A>T) c.260A>T (p.Gln87Leu) c.866A>T (p.Gln289Leu) c.20A>T (p.Gln7Leu) c.929A>T (p.Gln310Leu) | |
19 | g.10457934G>A | CA505382653 | PDE4A | c.933G>A (p.Gln311=) c.855G>A (p.Gln285=) c.216G>A (p.Gln72=) c.750G>A (p.Gln250=) n.196G>A c.160+3012G>A (n.160+3012G>A) c.261G>A (p.Gln87=) c.867G>A (p.Gln289=) c.21G>A (p.Gln7=) c.930G>A (p.Gln310=) | |
19 | g.10457934G>C | CA404000574 | PDE4A | c.933G>C (p.Gln311His) c.855G>C (p.Gln285His) c.216G>C (p.Gln72His) c.750G>C (p.Gln250His) n.196G>C c.160+3012G>C (n.160+3012G>C) c.261G>C (p.Gln87His) c.867G>C (p.Gln289His) c.21G>C (p.Gln7His) c.930G>C (p.Gln310His) | |
19 | g.10457934G>T | CA404000576 | PDE4A | c.933G>T (p.Gln311His) c.855G>T (p.Gln285His) c.216G>T (p.Gln72His) c.750G>T (p.Gln250His) n.196G>T c.160+3012G>T (n.160+3012G>T) c.261G>T (p.Gln87His) c.867G>T (p.Gln289His) c.21G>T (p.Gln7His) c.930G>T (p.Gln310His) | |
19 | g.10457935C>A | CA404000579 | PDE4A | c.934C>A (p.Gln312Lys) c.856C>A (p.Gln286Lys) c.217C>A (p.Gln73Lys) c.751C>A (p.Gln251Lys) n.197C>A c.160+3013C>A (n.160+3013C>A) c.262C>A (p.Gln88Lys) c.868C>A (p.Gln290Lys) c.22C>A (p.Gln8Lys) c.931C>A (p.Gln311Lys) | |
19 | g.10457935C>G | CA404000581 | PDE4A | c.934C>G (p.Gln312Glu) c.856C>G (p.Gln286Glu) c.217C>G (p.Gln73Glu) c.751C>G (p.Gln251Glu) n.197C>G c.160+3013C>G (n.160+3013C>G) c.262C>G (p.Gln88Glu) c.868C>G (p.Gln290Glu) c.22C>G (p.Gln8Glu) c.931C>G (p.Gln311Glu) | |
19 | g.10457935C>T | CA404000582 | PDE4A | c.934C>T (p.Gln312Ter) c.856C>T (p.Gln286Ter) c.217C>T (p.Gln73Ter) c.751C>T (p.Gln251Ter) n.197C>T c.160+3013C>T (n.160+3013C>T) c.262C>T (p.Gln88Ter) c.868C>T (p.Gln290Ter) c.22C>T (p.Gln8Ter) c.931C>T (p.Gln311Ter) | |
19 | g.10457936A>C | CA404000584 | PDE4A | c.935A>C (p.Gln312Pro) c.857A>C (p.Gln286Pro) c.218A>C (p.Gln73Pro) c.752A>C (p.Gln251Pro) n.198A>C c.160+3014A>C (n.160+3014A>C) c.263A>C (p.Gln88Pro) c.869A>C (p.Gln290Pro) c.23A>C (p.Gln8Pro) c.932A>C (p.Gln311Pro) | dbSNP |
19 | g.10457936A>G | CA404000589 | PDE4A | c.935A>G (p.Gln312Arg) c.857A>G (p.Gln286Arg) c.218A>G (p.Gln73Arg) c.752A>G (p.Gln251Arg) n.198A>G c.160+3014A>G (n.160+3014A>G) c.263A>G (p.Gln88Arg) c.869A>G (p.Gln290Arg) c.23A>G (p.Gln8Arg) c.932A>G (p.Gln311Arg) | |
19 | g.10457936A>T | CA404000586 | PDE4A | c.935A>T (p.Gln312Leu) c.857A>T (p.Gln286Leu) c.218A>T (p.Gln73Leu) c.752A>T (p.Gln251Leu) n.198A>T c.160+3014A>T (n.160+3014A>T) c.263A>T (p.Gln88Leu) c.869A>T (p.Gln290Leu) c.23A>T (p.Gln8Leu) c.932A>T (p.Gln311Leu) | |
19 | g.10457937A>C | CA404000592 | PDE4A | c.936A>C (p.Gln312His) c.858A>C (p.Gln286His) c.219A>C (p.Gln73His) c.753A>C (p.Gln251His) n.199A>C c.160+3015A>C (n.160+3015A>C) c.264A>C (p.Gln88His) c.870A>C (p.Gln290His) c.24A>C (p.Gln8His) c.933A>C (p.Gln311His) | |
19 | g.10457937A>G | CA505382654 | PDE4A | c.936A>G (p.Gln312=) c.858A>G (p.Gln286=) c.219A>G (p.Gln73=) c.753A>G (p.Gln251=) n.199A>G c.160+3015A>G (n.160+3015A>G) c.264A>G (p.Gln88=) c.870A>G (p.Gln290=) c.24A>G (p.Gln8=) c.933A>G (p.Gln311=) | |
19 | g.10457937A>T | CA404000594 | PDE4A | c.936A>T (p.Gln312His) c.858A>T (p.Gln286His) c.219A>T (p.Gln73His) c.753A>T (p.Gln251His) n.199A>T c.160+3015A>T (n.160+3015A>T) c.264A>T (p.Gln88His) c.870A>T (p.Gln290His) c.24A>T (p.Gln8His) c.933A>T (p.Gln311His) | |
19 | g.10457938G>A | CA9194843 | PDE4A | c.937G>A (p.Ala313Thr) c.859G>A (p.Ala287Thr) c.220G>A (p.Ala74Thr) c.754G>A (p.Ala252Thr) n.200G>A c.160+3016G>A (n.160+3016G>A) c.265G>A (p.Ala89Thr) c.871G>A (p.Ala291Thr) c.25G>A (p.Ala9Thr) c.934G>A (p.Ala312Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457938G>C | CA404000598 | PDE4A | c.937G>C (p.Ala313Pro) c.859G>C (p.Ala287Pro) c.220G>C (p.Ala74Pro) c.754G>C (p.Ala252Pro) n.200G>C c.160+3016G>C (n.160+3016G>C) c.265G>C (p.Ala89Pro) c.871G>C (p.Ala291Pro) c.25G>C (p.Ala9Pro) c.934G>C (p.Ala312Pro) | |
19 | g.10457938G= | CA2322438474 | PDE4A | c.937G= (p.Ala313=) c.859G= (p.Ala287=) c.220G= (p.Ala74=) c.754G= (p.Ala252=) n.200G= c.160+3016G= (n.160+3016G=) c.265G= (p.Ala89=) c.871G= (p.Ala291=) c.25G= (p.Ala9=) c.934G= (p.Ala312=) | |
19 | g.10457938G>T | CA404000601 | PDE4A | c.937G>T (p.Ala313Ser) c.859G>T (p.Ala287Ser) c.220G>T (p.Ala74Ser) c.754G>T (p.Ala252Ser) n.200G>T c.160+3016G>T (n.160+3016G>T) c.265G>T (p.Ala89Ser) c.871G>T (p.Ala291Ser) c.25G>T (p.Ala9Ser) c.934G>T (p.Ala312Ser) | |
19 | g.10457939C>A | CA404000603 | PDE4A | c.938C>A (p.Ala313Glu) c.860C>A (p.Ala287Glu) c.221C>A (p.Ala74Glu) c.755C>A (p.Ala252Glu) n.201C>A c.160+3017C>A (n.160+3017C>A) c.266C>A (p.Ala89Glu) c.872C>A (p.Ala291Glu) c.26C>A (p.Ala9Glu) c.935C>A (p.Ala312Glu) | |
19 | g.10457939C= | CA2322438475 | PDE4A | c.938C= (p.Ala313=) c.860C= (p.Ala287=) c.221C= (p.Ala74=) c.755C= (p.Ala252=) n.201C= c.160+3017C= (n.160+3017C=) c.266C= (p.Ala89=) c.872C= (p.Ala291=) c.26C= (p.Ala9=) c.935C= (p.Ala312=) | |
19 | g.10457939C>G | CA404000606 | PDE4A | c.938C>G (p.Ala313Gly) c.860C>G (p.Ala287Gly) c.221C>G (p.Ala74Gly) c.755C>G (p.Ala252Gly) n.201C>G c.160+3017C>G (n.160+3017C>G) c.266C>G (p.Ala89Gly) c.872C>G (p.Ala291Gly) c.26C>G (p.Ala9Gly) c.935C>G (p.Ala312Gly) | |
19 | g.10457939C>T | CA9194844 | PDE4A | c.938C>T (p.Ala313Val) c.860C>T (p.Ala287Val) c.221C>T (p.Ala74Val) c.755C>T (p.Ala252Val) n.201C>T c.160+3017C>T (n.160+3017C>T) c.266C>T (p.Ala89Val) c.872C>T (p.Ala291Val) c.26C>T (p.Ala9Val) c.935C>T (p.Ala312Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457940G>A | CA9194845 | PDE4A | c.939G>A (p.Ala313=) c.861G>A (p.Ala287=) c.222G>A (p.Ala74=) c.756G>A (p.Ala252=) n.202G>A c.160+3018G>A (n.160+3018G>A) c.267G>A (p.Ala89=) c.873G>A (p.Ala291=) c.27G>A (p.Ala9=) c.936G>A (p.Ala312=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
19 | g.10457940G>C | CA505382655 | PDE4A | c.939G>C (p.Ala313=) c.861G>C (p.Ala287=) c.222G>C (p.Ala74=) c.756G>C (p.Ala252=) n.202G>C c.160+3018G>C (n.160+3018G>C) c.267G>C (p.Ala89=) c.873G>C (p.Ala291=) c.27G>C (p.Ala9=) c.936G>C (p.Ala312=) | |
19 | g.10457940G= | CA2322438476 | PDE4A | c.939G= (p.Ala313=) c.861G= (p.Ala287=) c.222G= (p.Ala74=) c.756G= (p.Ala252=) n.202G= c.160+3018G= (n.160+3018G=) c.267G= (p.Ala89=) c.873G= (p.Ala291=) c.27G= (p.Ala9=) c.936G= (p.Ala312=) | |
19 | g.10457940G>T | CA505382656 | PDE4A | c.939G>T (p.Ala313=) c.861G>T (p.Ala287=) c.222G>T (p.Ala74=) c.756G>T (p.Ala252=) n.202G>T c.160+3018G>T (n.160+3018G>T) c.267G>T (p.Ala89=) c.873G>T (p.Ala291=) c.27G>T (p.Ala9=) c.936G>T (p.Ala312=) | |
19 | g.10457941C>A | CA404000614 | PDE4A | c.940C>A (p.Pro314Thr) c.862C>A (p.Pro288Thr) c.223C>A (p.Pro75Thr) c.757C>A (p.Pro253Thr) n.203C>A c.160+3019C>A (n.160+3019C>A) c.268C>A (p.Pro90Thr) c.874C>A (p.Pro292Thr) c.28C>A (p.Pro10Thr) c.937C>A (p.Pro313Thr) | |
19 | g.10457941C= | CA2322438477 | PDE4A | c.940C= (p.Pro314=) c.862C= (p.Pro288=) c.223C= (p.Pro75=) c.757C= (p.Pro253=) n.203C= c.160+3019C= (n.160+3019C=) c.268C= (p.Pro90=) c.874C= (p.Pro292=) c.28C= (p.Pro10=) c.937C= (p.Pro313=) | |
19 | g.10457941C>G | CA9194846 | PDE4A | c.940C>G (p.Pro314Ala) c.862C>G (p.Pro288Ala) c.223C>G (p.Pro75Ala) c.757C>G (p.Pro253Ala) n.203C>G c.160+3019C>G (n.160+3019C>G) c.268C>G (p.Pro90Ala) c.874C>G (p.Pro292Ala) c.28C>G (p.Pro10Ala) c.937C>G (p.Pro313Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457941C>T | CA404000616 | PDE4A | c.940C>T (p.Pro314Ser) c.862C>T (p.Pro288Ser) c.223C>T (p.Pro75Ser) c.757C>T (p.Pro253Ser) n.203C>T c.160+3019C>T (n.160+3019C>T) c.268C>T (p.Pro90Ser) c.874C>T (p.Pro292Ser) c.28C>T (p.Pro10Ser) c.937C>T (p.Pro313Ser) | |
19 | g.10457942C>A | CA404000617 | PDE4A | c.941C>A (p.Pro314Gln) c.863C>A (p.Pro288Gln) c.224C>A (p.Pro75Gln) c.758C>A (p.Pro253Gln) n.204C>A c.160+3020C>A (n.160+3020C>A) c.269C>A (p.Pro90Gln) c.875C>A (p.Pro292Gln) c.29C>A (p.Pro10Gln) c.938C>A (p.Pro313Gln) | dbSNP gnomAD v4 |
19 | g.10457942C= | CA2322438478 | PDE4A | c.941C= (p.Pro314=) c.863C= (p.Pro288=) c.224C= (p.Pro75=) c.758C= (p.Pro253=) n.204C= c.160+3020C= (n.160+3020C=) c.269C= (p.Pro90=) c.875C= (p.Pro292=) c.29C= (p.Pro10=) c.938C= (p.Pro313=) | |
19 | g.10457942C>G | CA404000618 | PDE4A | c.941C>G (p.Pro314Arg) c.863C>G (p.Pro288Arg) c.224C>G (p.Pro75Arg) c.758C>G (p.Pro253Arg) n.204C>G c.160+3020C>G (n.160+3020C>G) c.269C>G (p.Pro90Arg) c.875C>G (p.Pro292Arg) c.29C>G (p.Pro10Arg) c.938C>G (p.Pro313Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457942C>T | CA9194847 | PDE4A | c.941C>T (p.Pro314Leu) c.863C>T (p.Pro288Leu) c.224C>T (p.Pro75Leu) c.758C>T (p.Pro253Leu) n.204C>T c.160+3020C>T (n.160+3020C>T) c.269C>T (p.Pro90Leu) c.875C>T (p.Pro292Leu) c.29C>T (p.Pro10Leu) c.938C>T (p.Pro313Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457943G>A | CA9194848 | PDE4A | c.942G>A (p.Pro314=) c.864G>A (p.Pro288=) c.225G>A (p.Pro75=) c.759G>A (p.Pro253=) n.205G>A c.160+3021G>A (n.160+3021G>A) c.270G>A (p.Pro90=) c.876G>A (p.Pro292=) c.30G>A (p.Pro10=) c.939G>A (p.Pro313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457943G>C | CA505382657 | PDE4A | c.942G>C (p.Pro314=) c.864G>C (p.Pro288=) c.225G>C (p.Pro75=) c.759G>C (p.Pro253=) n.205G>C c.160+3021G>C (n.160+3021G>C) c.270G>C (p.Pro90=) c.876G>C (p.Pro292=) c.30G>C (p.Pro10=) c.939G>C (p.Pro313=) | |
19 | g.10457943G= | CA2322438479 | PDE4A | c.942G= (p.Pro314=) c.864G= (p.Pro288=) c.225G= (p.Pro75=) c.759G= (p.Pro253=) n.205G= c.160+3021G= (n.160+3021G=) c.270G= (p.Pro90=) c.876G= (p.Pro292=) c.30G= (p.Pro10=) c.939G= (p.Pro313=) | |
19 | g.10457943G>T | CA505382658 | PDE4A | c.942G>T (p.Pro314=) c.864G>T (p.Pro288=) c.225G>T (p.Pro75=) c.759G>T (p.Pro253=) n.205G>T c.160+3021G>T (n.160+3021G>T) c.270G>T (p.Pro90=) c.876G>T (p.Pro292=) c.30G>T (p.Pro10=) c.939G>T (p.Pro313=) | |
19 | g.10457944C>A | CA505382659 | PDE4A | c.943C>A (p.Arg315=) c.865C>A (p.Arg289=) c.226C>A (p.Arg76=) c.760C>A (p.Arg254=) n.206C>A c.160+3022C>A (n.160+3022C>A) c.271C>A (p.Arg91=) c.877C>A (p.Arg293=) c.31C>A (p.Arg11=) c.940C>A (p.Arg314=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457944C= | CA2322438480 | PDE4A | c.943C= (p.Arg315=) c.865C= (p.Arg289=) c.226C= (p.Arg76=) c.760C= (p.Arg254=) n.206C= c.160+3022C= (n.160+3022C=) c.271C= (p.Arg91=) c.877C= (p.Arg293=) c.31C= (p.Arg11=) c.940C= (p.Arg314=) | |
19 | g.10457944C>G | CA404000624 | PDE4A | c.943C>G (p.Arg315Gly) c.865C>G (p.Arg289Gly) c.226C>G (p.Arg76Gly) c.760C>G (p.Arg254Gly) n.206C>G c.160+3022C>G (n.160+3022C>G) c.271C>G (p.Arg91Gly) c.877C>G (p.Arg293Gly) c.31C>G (p.Arg11Gly) c.940C>G (p.Arg314Gly) | |
19 | g.10457944C>T | CA404000625 | PDE4A | c.943C>T (p.Arg315Ter) c.865C>T (p.Arg289Ter) c.226C>T (p.Arg76Ter) c.760C>T (p.Arg254Ter) n.206C>T c.160+3022C>T (n.160+3022C>T) c.271C>T (p.Arg91Ter) c.877C>T (p.Arg293Ter) c.31C>T (p.Arg11Ter) c.940C>T (p.Arg314Ter) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457945G>A | CA9194849 | PDE4A | c.944G>A (p.Arg315Gln) c.866G>A (p.Arg289Gln) c.227G>A (p.Arg76Gln) c.761G>A (p.Arg254Gln) n.207G>A c.160+3023G>A (n.160+3023G>A) c.272G>A (p.Arg91Gln) c.878G>A (p.Arg293Gln) c.32G>A (p.Arg11Gln) c.941G>A (p.Arg314Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457945G>C | CA404000630 | PDE4A | c.944G>C (p.Arg315Pro) c.866G>C (p.Arg289Pro) c.227G>C (p.Arg76Pro) c.761G>C (p.Arg254Pro) n.207G>C c.160+3023G>C (n.160+3023G>C) c.272G>C (p.Arg91Pro) c.878G>C (p.Arg293Pro) c.32G>C (p.Arg11Pro) c.941G>C (p.Arg314Pro) | |
19 | g.10457945G= | CA2322438481 | PDE4A | c.944G= (p.Arg315=) c.866G= (p.Arg289=) c.227G= (p.Arg76=) c.761G= (p.Arg254=) n.207G= c.160+3023G= (n.160+3023G=) c.272G= (p.Arg91=) c.878G= (p.Arg293=) c.32G= (p.Arg11=) c.941G= (p.Arg314=) | |
19 | g.10457945G>T | CA404000632 | PDE4A | c.944G>T (p.Arg315Leu) c.866G>T (p.Arg289Leu) c.227G>T (p.Arg76Leu) c.761G>T (p.Arg254Leu) n.207G>T c.160+3023G>T (n.160+3023G>T) c.272G>T (p.Arg91Leu) c.878G>T (p.Arg293Leu) c.32G>T (p.Arg11Leu) c.941G>T (p.Arg314Leu) | |
19 | g.10457946A>C | CA505382662 | PDE4A | c.945A>C (p.Arg315=) c.867A>C (p.Arg289=) c.228A>C (p.Arg76=) c.762A>C (p.Arg254=) n.208A>C c.160+3024A>C (n.160+3024A>C) c.273A>C (p.Arg91=) c.879A>C (p.Arg293=) c.33A>C (p.Arg11=) c.942A>C (p.Arg314=) | dbSNP |
19 | g.10457946A>G | CA505382661 | PDE4A | c.945A>G (p.Arg315=) c.867A>G (p.Arg289=) c.228A>G (p.Arg76=) c.762A>G (p.Arg254=) n.208A>G c.160+3024A>G (n.160+3024A>G) c.273A>G (p.Arg91=) c.879A>G (p.Arg293=) c.33A>G (p.Arg11=) c.942A>G (p.Arg314=) | |
19 | g.10457946A>T | CA505382660 | PDE4A | c.945A>T (p.Arg315=) c.867A>T (p.Arg289=) c.228A>T (p.Arg76=) c.762A>T (p.Arg254=) n.208A>T c.160+3024A>T (n.160+3024A>T) c.273A>T (p.Arg91=) c.879A>T (p.Arg293=) c.33A>T (p.Arg11=) c.942A>T (p.Arg314=) | |
19 | g.10457947C>A | CA404000636 | PDE4A | c.946C>A (p.Pro316Thr) c.868C>A (p.Pro290Thr) c.229C>A (p.Pro77Thr) c.763C>A (p.Pro255Thr) n.209C>A c.160+3025C>A (n.160+3025C>A) c.274C>A (p.Pro92Thr) c.880C>A (p.Pro294Thr) c.34C>A (p.Pro12Thr) c.943C>A (p.Pro315Thr) | gnomAD v4 |
19 | g.10457947C= | CA2322438482 | PDE4A | c.946C= (p.Pro316=) c.868C= (p.Pro290=) c.229C= (p.Pro77=) c.763C= (p.Pro255=) n.209C= c.160+3025C= (n.160+3025C=) c.274C= (p.Pro92=) c.880C= (p.Pro294=) c.34C= (p.Pro12=) c.943C= (p.Pro315=) | |
19 | g.10457947C>G | CA404000638 | PDE4A | c.946C>G (p.Pro316Ala) c.868C>G (p.Pro290Ala) c.229C>G (p.Pro77Ala) c.763C>G (p.Pro255Ala) n.209C>G c.160+3025C>G (n.160+3025C>G) c.274C>G (p.Pro92Ala) c.880C>G (p.Pro294Ala) c.34C>G (p.Pro12Ala) c.943C>G (p.Pro315Ala) | |
19 | g.10457947C>T | CA9194850 | PDE4A | c.946C>T (p.Pro316Ser) c.868C>T (p.Pro290Ser) c.229C>T (p.Pro77Ser) c.763C>T (p.Pro255Ser) n.209C>T c.160+3025C>T (n.160+3025C>T) c.274C>T (p.Pro92Ser) c.880C>T (p.Pro294Ser) c.34C>T (p.Pro12Ser) c.943C>T (p.Pro315Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457948C>A | CA404000639 | PDE4A | c.947C>A (p.Pro316Gln) c.869C>A (p.Pro290Gln) c.230C>A (p.Pro77Gln) c.764C>A (p.Pro255Gln) n.210C>A c.160+3026C>A (n.160+3026C>A) c.275C>A (p.Pro92Gln) c.881C>A (p.Pro294Gln) c.35C>A (p.Pro12Gln) c.944C>A (p.Pro315Gln) | |
19 | g.10457948C>G | CA404000641 | PDE4A | c.947C>G (p.Pro316Arg) c.869C>G (p.Pro290Arg) c.230C>G (p.Pro77Arg) c.764C>G (p.Pro255Arg) n.210C>G c.160+3026C>G (n.160+3026C>G) c.275C>G (p.Pro92Arg) c.881C>G (p.Pro294Arg) c.35C>G (p.Pro12Arg) c.944C>G (p.Pro315Arg) | |
19 | g.10457948C>T | CA404000643 | PDE4A | c.947C>T (p.Pro316Leu) c.869C>T (p.Pro290Leu) c.230C>T (p.Pro77Leu) c.764C>T (p.Pro255Leu) n.210C>T c.160+3026C>T (n.160+3026C>T) c.275C>T (p.Pro92Leu) c.881C>T (p.Pro294Leu) c.35C>T (p.Pro12Leu) c.944C>T (p.Pro315Leu) | |
19 | g.10457949A>C | CA505382665 | PDE4A | c.948A>C (p.Pro316=) c.870A>C (p.Pro290=) c.231A>C (p.Pro77=) c.765A>C (p.Pro255=) n.211A>C c.160+3027A>C (n.160+3027A>C) c.276A>C (p.Pro92=) c.882A>C (p.Pro294=) c.36A>C (p.Pro12=) c.945A>C (p.Pro315=) | |
19 | g.10457949A>G | CA505382664 | PDE4A | c.948A>G (p.Pro316=) c.870A>G (p.Pro290=) c.231A>G (p.Pro77=) c.765A>G (p.Pro255=) n.211A>G c.160+3027A>G (n.160+3027A>G) c.276A>G (p.Pro92=) c.882A>G (p.Pro294=) c.36A>G (p.Pro12=) c.945A>G (p.Pro315=) | |
19 | g.10457949A>T | CA505382663 | PDE4A | c.948A>T (p.Pro316=) c.870A>T (p.Pro290=) c.231A>T (p.Pro77=) c.765A>T (p.Pro255=) n.211A>T c.160+3027A>T (n.160+3027A>T) c.276A>T (p.Pro92=) c.882A>T (p.Pro294=) c.36A>T (p.Pro12=) c.945A>T (p.Pro315=) | |
19 | g.10457950A>C | CA505382666 | PDE4A | c.949A>C (p.Arg317=) c.871A>C (p.Arg291=) c.232A>C (p.Arg78=) c.766A>C (p.Arg256=) n.212A>C c.160+3028A>C (n.160+3028A>C) c.277A>C (p.Arg93=) c.883A>C (p.Arg295=) c.37A>C (p.Arg13=) c.946A>C (p.Arg316=) | |
19 | g.10457950A>G | CA404000645 | PDE4A | c.949A>G (p.Arg317Gly) c.871A>G (p.Arg291Gly) c.232A>G (p.Arg78Gly) c.766A>G (p.Arg256Gly) n.212A>G c.160+3028A>G (n.160+3028A>G) c.277A>G (p.Arg93Gly) c.883A>G (p.Arg295Gly) c.37A>G (p.Arg13Gly) c.946A>G (p.Arg316Gly) | |
19 | g.10457950A>T | CA404000647 | PDE4A | c.949A>T (p.Arg317Ter) c.871A>T (p.Arg291Ter) c.232A>T (p.Arg78Ter) c.766A>T (p.Arg256Ter) n.212A>T c.160+3028A>T (n.160+3028A>T) c.277A>T (p.Arg93Ter) c.883A>T (p.Arg295Ter) c.37A>T (p.Arg13Ter) c.946A>T (p.Arg316Ter) | |
19 | g.10457951G>A | CA404000650 | PDE4A | c.950G>A (p.Arg317Lys) c.872G>A (p.Arg291Lys) c.233G>A (p.Arg78Lys) c.767G>A (p.Arg256Lys) n.213G>A c.160+3029G>A (n.160+3029G>A) c.278G>A (p.Arg93Lys) c.884G>A (p.Arg295Lys) c.38G>A (p.Arg13Lys) c.947G>A (p.Arg316Lys) | |
19 | g.10457951G>C | CA404000661 | PDE4A | c.950G>C (p.Arg317Thr) c.872G>C (p.Arg291Thr) c.233G>C (p.Arg78Thr) c.767G>C (p.Arg256Thr) n.213G>C c.160+3029G>C (n.160+3029G>C) c.278G>C (p.Arg93Thr) c.884G>C (p.Arg295Thr) c.38G>C (p.Arg13Thr) c.947G>C (p.Arg316Thr) | gnomAD v4 |
19 | g.10457951G>T | CA404000657 | PDE4A | c.950G>T (p.Arg317Ile) c.872G>T (p.Arg291Ile) c.233G>T (p.Arg78Ile) c.767G>T (p.Arg256Ile) n.213G>T c.160+3029G>T (n.160+3029G>T) c.278G>T (p.Arg93Ile) c.884G>T (p.Arg295Ile) c.38G>T (p.Arg13Ile) c.947G>T (p.Arg316Ile) | COSMIC COSMIC |
19 | g.10457952A= | CA2322438483 | PDE4A | c.951A= (p.Arg317=) c.873A= (p.Arg291=) c.234A= (p.Arg78=) c.768A= (p.Arg256=) n.214A= c.160+3030A= (n.160+3030A=) c.279A= (p.Arg93=) c.885A= (p.Arg295=) c.39A= (p.Arg13=) c.948A= (p.Arg316=) | |
19 | g.10457952A>C | CA404000664 | PDE4A | c.951A>C (p.Arg317Ser) c.873A>C (p.Arg291Ser) c.234A>C (p.Arg78Ser) c.768A>C (p.Arg256Ser) n.214A>C c.160+3030A>C (n.160+3030A>C) c.279A>C (p.Arg93Ser) c.885A>C (p.Arg295Ser) c.39A>C (p.Arg13Ser) c.948A>C (p.Arg316Ser) | dbSNP |
19 | g.10457952A>G | CA505382667 | PDE4A | c.951A>G (p.Arg317=) c.873A>G (p.Arg291=) c.234A>G (p.Arg78=) c.768A>G (p.Arg256=) n.214A>G c.160+3030A>G (n.160+3030A>G) c.279A>G (p.Arg93=) c.885A>G (p.Arg295=) c.39A>G (p.Arg13=) c.948A>G (p.Arg316=) | |
19 | g.10457952A>T | CA404000667 | PDE4A | c.951A>T (p.Arg317Ser) c.873A>T (p.Arg291Ser) c.234A>T (p.Arg78Ser) c.768A>T (p.Arg256Ser) n.214A>T c.160+3030A>T (n.160+3030A>T) c.279A>T (p.Arg93Ser) c.885A>T (p.Arg295Ser) c.39A>T (p.Arg13Ser) c.948A>T (p.Arg316Ser) | |
19 | g.10457953C>A | CA404000671 | PDE4A | c.952C>A (p.Pro318Thr) c.874C>A (p.Pro292Thr) c.235C>A (p.Pro79Thr) c.769C>A (p.Pro257Thr) n.215C>A c.160+3031C>A (n.160+3031C>A) c.280C>A (p.Pro94Thr) c.886C>A (p.Pro296Thr) c.40C>A (p.Pro14Thr) c.949C>A (p.Pro317Thr) | COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457953C>G | CA404000673 | PDE4A | c.952C>G (p.Pro318Ala) c.874C>G (p.Pro292Ala) c.235C>G (p.Pro79Ala) c.769C>G (p.Pro257Ala) n.215C>G c.160+3031C>G (n.160+3031C>G) c.280C>G (p.Pro94Ala) c.886C>G (p.Pro296Ala) c.40C>G (p.Pro14Ala) c.949C>G (p.Pro317Ala) | |
19 | g.10457953C>T | CA404000676 | PDE4A | c.952C>T (p.Pro318Ser) c.874C>T (p.Pro292Ser) c.235C>T (p.Pro79Ser) c.769C>T (p.Pro257Ser) n.215C>T c.160+3031C>T (n.160+3031C>T) c.280C>T (p.Pro94Ser) c.886C>T (p.Pro296Ser) c.40C>T (p.Pro14Ser) c.949C>T (p.Pro317Ser) | |
19 | g.10457953_10457954insAGAGAAA | CA2529490206 | PDE4A | c.952_953insAGAGAAA (p.Pro318GlnfsTer29) c.874_875insAGAGAAA (p.Pro292GlnfsTer29) c.235_236insAGAGAAA (p.Pro79GlnfsTer29) c.769_770insAGAGAAA (p.Pro257GlnfsTer29) n.215_216insAGAGAAA c.160+3031_160+3032insAGAGAAA (n.160+3031_160+3032insAGAGAAA) c.280_281insAGAGAAA (p.Pro94GlnfsTer29) c.886_887insAGAGAAA (p.Pro296GlnfsTer29) c.40_41insAGAGAAA (p.Pro14GlnfsTer29) c.949_950insAGAGAAA (p.Pro317GlnfsTer29) | |
19 | g.10457954C>A | CA404000679 | PDE4A | c.953C>A (p.Pro318His) c.875C>A (p.Pro292His) c.236C>A (p.Pro79His) c.770C>A (p.Pro257His) n.216C>A c.160+3032C>A (n.160+3032C>A) c.281C>A (p.Pro94His) c.887C>A (p.Pro296His) c.41C>A (p.Pro14His) c.950C>A (p.Pro317His) | |
19 | g.10457954C>G | CA404000681 | PDE4A | c.953C>G (p.Pro318Arg) c.875C>G (p.Pro292Arg) c.236C>G (p.Pro79Arg) c.770C>G (p.Pro257Arg) n.216C>G c.160+3032C>G (n.160+3032C>G) c.281C>G (p.Pro94Arg) c.887C>G (p.Pro296Arg) c.41C>G (p.Pro14Arg) c.950C>G (p.Pro317Arg) | |
19 | g.10457954C>T | CA404000683 | PDE4A | c.953C>T (p.Pro318Leu) c.875C>T (p.Pro292Leu) c.236C>T (p.Pro79Leu) c.770C>T (p.Pro257Leu) n.216C>T c.160+3032C>T (n.160+3032C>T) c.281C>T (p.Pro94Leu) c.887C>T (p.Pro296Leu) c.41C>T (p.Pro14Leu) c.950C>T (p.Pro317Leu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457954_10457955insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG | CA2566116009 | PDE4A | c.953_954insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro319LysfsTer8) c.875_876insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro293LysfsTer8) c.236_237insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro80LysfsTer8) c.770_771insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro258LysfsTer8) n.216_217insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG c.160+3032_160+3033insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (n.160+3032_160+3033insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG) c.281_282insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro95LysfsTer8) c.887_888insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro297LysfsTer8) c.41_42insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro15LysfsTer8) c.950_951insTAAAAGACTTATCTCTAATAGATAGCCGCACCGATTACAAAATCAGCCTGAGATTTATTGAGTTTCGCGCGCGTCAATTAGCTTTTGATAGAGCTTTTCAAGCTTCTTCACTTGACTTCG (p.Pro318LysfsTer8) | |
19 | g.10457955C>A | CA505382668 | PDE4A | c.954C>A (p.Pro318=) c.876C>A (p.Pro292=) c.237C>A (p.Pro79=) c.771C>A (p.Pro257=) n.217C>A c.160+3033C>A (n.160+3033C>A) c.282C>A (p.Pro94=) c.888C>A (p.Pro296=) c.42C>A (p.Pro14=) c.951C>A (p.Pro317=) | |
19 | g.10457955C= | CA2322438484 | PDE4A | c.954C= (p.Pro318=) c.876C= (p.Pro292=) c.237C= (p.Pro79=) c.771C= (p.Pro257=) n.217C= c.160+3033C= (n.160+3033C=) c.282C= (p.Pro94=) c.888C= (p.Pro296=) c.42C= (p.Pro14=) c.951C= (p.Pro317=) | |
19 | g.10457955C>G | CA505382669 | PDE4A | c.954C>G (p.Pro318=) c.876C>G (p.Pro292=) c.237C>G (p.Pro79=) c.771C>G (p.Pro257=) n.217C>G c.160+3033C>G (n.160+3033C>G) c.282C>G (p.Pro94=) c.888C>G (p.Pro296=) c.42C>G (p.Pro14=) c.951C>G (p.Pro317=) | gnomAD v4 |
19 | g.10457955C>T | CA9194851 | PDE4A | c.954C>T (p.Pro318=) c.876C>T (p.Pro292=) c.237C>T (p.Pro79=) c.771C>T (p.Pro257=) n.217C>T c.160+3033C>T (n.160+3033C>T) c.282C>T (p.Pro94=) c.888C>T (p.Pro296=) c.42C>T (p.Pro14=) c.951C>T (p.Pro317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457956T>A | CA404000687 | PDE4A | c.955T>A (p.Ser319Thr) c.877T>A (p.Ser293Thr) c.238T>A (p.Ser80Thr) c.772T>A (p.Ser258Thr) n.218T>A c.160+3034T>A (n.160+3034T>A) c.283T>A (p.Ser95Thr) c.889T>A (p.Ser297Thr) c.43T>A (p.Ser15Thr) c.952T>A (p.Ser318Thr) | gnomAD v4 |
19 | g.10457956T>C | CA305219093 | PDE4A | c.955T>C (p.Ser319Pro) c.877T>C (p.Ser293Pro) c.238T>C (p.Ser80Pro) c.772T>C (p.Ser258Pro) n.218T>C c.160+3034T>C (n.160+3034T>C) c.283T>C (p.Ser95Pro) c.889T>C (p.Ser297Pro) c.43T>C (p.Ser15Pro) c.952T>C (p.Ser318Pro) | dbSNP gnomAD v4 |
19 | g.10457956T>G | CA404000690 | PDE4A | c.955T>G (p.Ser319Ala) c.877T>G (p.Ser293Ala) c.238T>G (p.Ser80Ala) c.772T>G (p.Ser258Ala) n.218T>G c.160+3034T>G (n.160+3034T>G) c.283T>G (p.Ser95Ala) c.889T>G (p.Ser297Ala) c.43T>G (p.Ser15Ala) c.952T>G (p.Ser318Ala) | dbSNP gnomAD v4 |
19 | g.10457956T= | CA2322438485 | PDE4A | c.955T= (p.Ser319=) c.877T= (p.Ser293=) c.238T= (p.Ser80=) c.772T= (p.Ser258=) n.218T= c.160+3034T= (n.160+3034T=) c.283T= (p.Ser95=) c.889T= (p.Ser297=) c.43T= (p.Ser15=) c.952T= (p.Ser318=) | |
19 | g.10457957C>A | CA404000700 | PDE4A | c.956C>A (p.Ser319Tyr) c.878C>A (p.Ser293Tyr) c.239C>A (p.Ser80Tyr) c.773C>A (p.Ser258Tyr) n.219C>A c.160+3035C>A (n.160+3035C>A) c.284C>A (p.Ser95Tyr) c.890C>A (p.Ser297Tyr) c.44C>A (p.Ser15Tyr) c.953C>A (p.Ser318Tyr) | |
19 | g.10457957C>G | CA404000694 | PDE4A | c.956C>G (p.Ser319Cys) c.878C>G (p.Ser293Cys) c.239C>G (p.Ser80Cys) c.773C>G (p.Ser258Cys) n.219C>G c.160+3035C>G (n.160+3035C>G) c.284C>G (p.Ser95Cys) c.890C>G (p.Ser297Cys) c.44C>G (p.Ser15Cys) c.953C>G (p.Ser318Cys) | |
19 | g.10457957C>T | CA404000697 | PDE4A | c.956C>T (p.Ser319Phe) c.878C>T (p.Ser293Phe) c.239C>T (p.Ser80Phe) c.773C>T (p.Ser258Phe) n.219C>T c.160+3035C>T (n.160+3035C>T) c.284C>T (p.Ser95Phe) c.890C>T (p.Ser297Phe) c.44C>T (p.Ser15Phe) c.953C>T (p.Ser318Phe) | |
19 | g.10457958C>A | CA505382670 | PDE4A | c.957C>A (p.Ser319=) c.879C>A (p.Ser293=) c.240C>A (p.Ser80=) c.774C>A (p.Ser258=) n.220C>A c.160+3036C>A (n.160+3036C>A) c.285C>A (p.Ser95=) c.891C>A (p.Ser297=) c.45C>A (p.Ser15=) c.954C>A (p.Ser318=) | |
19 | g.10457958C= | CA2322438486 | PDE4A | c.957C= (p.Ser319=) c.879C= (p.Ser293=) c.240C= (p.Ser80=) c.774C= (p.Ser258=) n.220C= c.160+3036C= (n.160+3036C=) c.285C= (p.Ser95=) c.891C= (p.Ser297=) c.45C= (p.Ser15=) c.954C= (p.Ser318=) | |
19 | g.10457958C>G | CA505382671 | PDE4A | c.957C>G (p.Ser319=) c.879C>G (p.Ser293=) c.240C>G (p.Ser80=) c.774C>G (p.Ser258=) n.220C>G c.160+3036C>G (n.160+3036C>G) c.285C>G (p.Ser95=) c.891C>G (p.Ser297=) c.45C>G (p.Ser15=) c.954C>G (p.Ser318=) | |
19 | g.10457958C>T | CA505382672 | PDE4A | c.957C>T (p.Ser319=) c.879C>T (p.Ser293=) c.240C>T (p.Ser80=) c.774C>T (p.Ser258=) n.220C>T c.160+3036C>T (n.160+3036C>T) c.285C>T (p.Ser95=) c.891C>T (p.Ser297=) c.45C>T (p.Ser15=) c.954C>T (p.Ser318=) | dbSNP gnomAD v4 |
19 | g.10457959C>A | CA404000703 | PDE4A | c.958C>A (p.Gln320Lys) c.880C>A (p.Gln294Lys) c.241C>A (p.Gln81Lys) c.775C>A (p.Gln259Lys) n.221C>A c.160+3037C>A (n.160+3037C>A) c.286C>A (p.Gln96Lys) c.892C>A (p.Gln298Lys) c.46C>A (p.Gln16Lys) c.955C>A (p.Gln319Lys) | |
19 | g.10457959C>G | CA404000706 | PDE4A | c.958C>G (p.Gln320Glu) c.880C>G (p.Gln294Glu) c.241C>G (p.Gln81Glu) c.775C>G (p.Gln259Glu) n.221C>G c.160+3037C>G (n.160+3037C>G) c.286C>G (p.Gln96Glu) c.892C>G (p.Gln298Glu) c.46C>G (p.Gln16Glu) c.955C>G (p.Gln319Glu) | |
19 | g.10457959C>T | CA404000708 | PDE4A | c.958C>T (p.Gln320Ter) c.880C>T (p.Gln294Ter) c.241C>T (p.Gln81Ter) c.775C>T (p.Gln259Ter) n.221C>T c.160+3037C>T (n.160+3037C>T) c.286C>T (p.Gln96Ter) c.892C>T (p.Gln298Ter) c.46C>T (p.Gln16Ter) c.955C>T (p.Gln319Ter) | |
19 | g.10457960_10457962del | CA2576620028 | PDE4A | c.959_961del (p.Gln320del) c.881_883del (p.Gln294del) c.242_244del (p.Gln81del) c.776_778del (p.Gln259del) n.222_224del c.160+3038_160+3040del (n.160+3038_160+3040del) c.287_289del (p.Gln96del) c.893_895del (p.Gln298del) c.47_49del (p.Gln16del) c.956_958del (p.Gln319del) | |
19 | g.10457960A>C | CA404000712 | PDE4A | c.959A>C (p.Gln320Pro) c.881A>C (p.Gln294Pro) c.242A>C (p.Gln81Pro) c.776A>C (p.Gln259Pro) n.222A>C c.160+3038A>C (n.160+3038A>C) c.287A>C (p.Gln96Pro) c.893A>C (p.Gln298Pro) c.47A>C (p.Gln16Pro) c.956A>C (p.Gln319Pro) | dbSNP gnomAD v4 |
19 | g.10457960A>G | CA404000714 | PDE4A | c.959A>G (p.Gln320Arg) c.881A>G (p.Gln294Arg) c.242A>G (p.Gln81Arg) c.776A>G (p.Gln259Arg) n.222A>G c.160+3038A>G (n.160+3038A>G) c.287A>G (p.Gln96Arg) c.893A>G (p.Gln298Arg) c.47A>G (p.Gln16Arg) c.956A>G (p.Gln319Arg) | gnomAD v4 |
19 | g.10457960A>T | CA404000718 | PDE4A | c.959A>T (p.Gln320Leu) c.881A>T (p.Gln294Leu) c.242A>T (p.Gln81Leu) c.776A>T (p.Gln259Leu) n.222A>T c.160+3038A>T (n.160+3038A>T) c.287A>T (p.Gln96Leu) c.893A>T (p.Gln298Leu) c.47A>T (p.Gln16Leu) c.956A>T (p.Gln319Leu) | |
19 | g.10457960_10457961del | CA2582385144 | PDE4A | c.959_960del (p.Gln320ProfsTer24) c.881_882del (p.Gln294ProfsTer24) c.242_243del (p.Gln81ProfsTer24) c.776_777del (p.Gln259ProfsTer24) n.222_223del c.160+3038_160+3039del (n.160+3038_160+3039del) c.287_288del (p.Gln96ProfsTer24) c.893_894del (p.Gln298ProfsTer24) c.47_48del (p.Gln16ProfsTer24) c.956_957del (p.Gln319ProfsTer24) | gnomAD v4 |
19 | g.10457961G>A | CA505382674 | PDE4A | c.960G>A (p.Gln320=) c.882G>A (p.Gln294=) c.243G>A (p.Gln81=) c.777G>A (p.Gln259=) n.223G>A c.160+3039G>A (n.160+3039G>A) c.288G>A (p.Gln96=) c.894G>A (p.Gln298=) c.48G>A (p.Gln16=) c.957G>A (p.Gln319=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457961G>C | CA404000721 | PDE4A | c.960G>C (p.Gln320His) c.882G>C (p.Gln294His) c.243G>C (p.Gln81His) c.777G>C (p.Gln259His) n.223G>C c.160+3039G>C (n.160+3039G>C) c.288G>C (p.Gln96His) c.894G>C (p.Gln298His) c.48G>C (p.Gln16His) c.957G>C (p.Gln319His) | gnomAD v4 |
19 | g.10457961G= | CA2322438487 | PDE4A | c.960G= (p.Gln320=) c.882G= (p.Gln294=) c.243G= (p.Gln81=) c.777G= (p.Gln259=) n.223G= c.160+3039G= (n.160+3039G=) c.288G= (p.Gln96=) c.894G= (p.Gln298=) c.48G= (p.Gln16=) c.957G= (p.Gln319=) | |
19 | g.10457961G>T | CA404000724 | PDE4A | c.960G>T (p.Gln320His) c.882G>T (p.Gln294His) c.243G>T (p.Gln81His) c.777G>T (p.Gln259His) n.223G>T c.160+3039G>T (n.160+3039G>T) c.288G>T (p.Gln96His) c.894G>T (p.Gln298His) c.48G>T (p.Gln16His) c.957G>T (p.Gln319His) | gnomAD v4 |
19 | g.10457962C>A | CA404000726 | PDE4A | c.961C>A (p.Pro321Thr) c.883C>A (p.Pro295Thr) c.244C>A (p.Pro82Thr) c.778C>A (p.Pro260Thr) n.224C>A c.160+3040C>A (n.160+3040C>A) c.289C>A (p.Pro97Thr) c.895C>A (p.Pro299Thr) c.49C>A (p.Pro17Thr) c.958C>A (p.Pro320Thr) | |
19 | g.10457962C>G | CA404000729 | PDE4A | c.961C>G (p.Pro321Ala) c.883C>G (p.Pro295Ala) c.244C>G (p.Pro82Ala) c.778C>G (p.Pro260Ala) n.224C>G c.160+3040C>G (n.160+3040C>G) c.289C>G (p.Pro97Ala) c.895C>G (p.Pro299Ala) c.49C>G (p.Pro17Ala) c.958C>G (p.Pro320Ala) | |
19 | g.10457962C>T | CA404000732 | PDE4A | c.961C>T (p.Pro321Ser) c.883C>T (p.Pro295Ser) c.244C>T (p.Pro82Ser) c.778C>T (p.Pro260Ser) n.224C>T c.160+3040C>T (n.160+3040C>T) c.289C>T (p.Pro97Ser) c.895C>T (p.Pro299Ser) c.49C>T (p.Pro17Ser) c.958C>T (p.Pro320Ser) | gnomAD v4 |
19 | g.10457970_10457975dup | CA783183444 | PDE4A | c.969_974dup (p.Pro325_Val326insProPro) c.891_896dup (p.Pro299_Val300insProPro) c.252_257dup (p.Pro86_Val87insProPro) c.786_791dup (p.Pro264_Val265insProPro) n.232_237dup c.161-3034_161-3029dup (n.161-3034_161-3029dup) c.297_302dup (p.Pro101_Val102insProPro) c.903_908dup (p.Pro303_Val304insProPro) c.57_62dup (p.Pro21_Val22insProPro) c.966_971dup (p.Pro324_Val325insProPro) | dbSNP gnomAD v4 |
19 | g.10457970_10457975del | CA2582385145 | PDE4A | c.969_974del (p.Pro324_Pro325del) c.891_896del (p.Pro298_Pro299del) c.252_257del (p.Pro85_Pro86del) c.786_791del (p.Pro263_Pro264del) n.232_237del c.161-3034_161-3029del (n.161-3034_161-3029del) c.297_302del (p.Pro100_Pro101del) c.903_908del (p.Pro302_Pro303del) c.57_62del (p.Pro20_Pro21del) c.966_971del (p.Pro323_Pro324del) | gnomAD v4 |
19 | g.10457963C>A | CA404000738 | PDE4A | c.962C>A (p.Pro321Gln) c.884C>A (p.Pro295Gln) c.245C>A (p.Pro82Gln) c.779C>A (p.Pro260Gln) n.225C>A c.161-3041C>A (n.161-3041C>A) c.290C>A (p.Pro97Gln) c.896C>A (p.Pro299Gln) c.50C>A (p.Pro17Gln) c.959C>A (p.Pro320Gln) | gnomAD v4 |
19 | g.10457963C= | CA2322438488 | PDE4A | c.962C= (p.Pro321=) c.884C= (p.Pro295=) c.245C= (p.Pro82=) c.779C= (p.Pro260=) n.225C= c.161-3041C= (n.161-3041C=) c.290C= (p.Pro97=) c.896C= (p.Pro299=) c.50C= (p.Pro17=) c.959C= (p.Pro320=) | |
19 | g.10457963C>G | CA305219099 | PDE4A | c.962C>G (p.Pro321Arg) c.884C>G (p.Pro295Arg) c.245C>G (p.Pro82Arg) c.779C>G (p.Pro260Arg) n.225C>G c.161-3041C>G (n.161-3041C>G) c.290C>G (p.Pro97Arg) c.896C>G (p.Pro299Arg) c.50C>G (p.Pro17Arg) c.959C>G (p.Pro320Arg) | dbSNP |
19 | g.10457963C>T | CA9194852 | PDE4A | c.962C>T (p.Pro321Leu) c.884C>T (p.Pro295Leu) c.245C>T (p.Pro82Leu) c.779C>T (p.Pro260Leu) n.225C>T c.161-3041C>T (n.161-3041C>T) c.290C>T (p.Pro97Leu) c.896C>T (p.Pro299Leu) c.50C>T (p.Pro17Leu) c.959C>T (p.Pro320Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457964G>A | CA305219103 | PDE4A | c.963G>A (p.Pro321=) c.885G>A (p.Pro295=) c.246G>A (p.Pro82=) c.780G>A (p.Pro260=) n.226G>A c.161-3040G>A (n.161-3040G>A) c.291G>A (p.Pro97=) c.897G>A (p.Pro299=) c.51G>A (p.Pro17=) c.960G>A (p.Pro320=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457964G>C | CA505382676 | PDE4A | c.963G>C (p.Pro321=) c.885G>C (p.Pro295=) c.246G>C (p.Pro82=) c.780G>C (p.Pro260=) n.226G>C c.161-3040G>C (n.161-3040G>C) c.291G>C (p.Pro97=) c.897G>C (p.Pro299=) c.51G>C (p.Pro17=) c.960G>C (p.Pro320=) | gnomAD v4 |
19 | g.10457964G= | CA2322438489 | PDE4A | c.963G= (p.Pro321=) c.885G= (p.Pro295=) c.246G= (p.Pro82=) c.780G= (p.Pro260=) n.226G= c.161-3040G= (n.161-3040G=) c.291G= (p.Pro97=) c.897G= (p.Pro299=) c.51G= (p.Pro17=) c.960G= (p.Pro320=) | |
19 | g.10457964G>T | CA505382677 | PDE4A | c.963G>T (p.Pro321=) c.885G>T (p.Pro295=) c.246G>T (p.Pro82=) c.780G>T (p.Pro260=) n.226G>T c.161-3040G>T (n.161-3040G>T) c.291G>T (p.Pro97=) c.897G>T (p.Pro299=) c.51G>T (p.Pro17=) c.960G>T (p.Pro320=) | |
19 | g.10457965C>A | CA404000742 | PDE4A | c.964C>A (p.Pro322Thr) c.886C>A (p.Pro296Thr) c.247C>A (p.Pro83Thr) c.781C>A (p.Pro261Thr) n.227C>A c.161-3039C>A (n.161-3039C>A) c.292C>A (p.Pro98Thr) c.898C>A (p.Pro300Thr) c.52C>A (p.Pro18Thr) c.961C>A (p.Pro321Thr) | COSMIC COSMIC COSMIC |
19 | g.10457965C>G | CA404000745 | PDE4A | c.964C>G (p.Pro322Ala) c.886C>G (p.Pro296Ala) c.247C>G (p.Pro83Ala) c.781C>G (p.Pro261Ala) n.227C>G c.161-3039C>G (n.161-3039C>G) c.292C>G (p.Pro98Ala) c.898C>G (p.Pro300Ala) c.52C>G (p.Pro18Ala) c.961C>G (p.Pro321Ala) | |
19 | g.10457965C>T | CA404000743 | PDE4A | c.964C>T (p.Pro322Ser) c.886C>T (p.Pro296Ser) c.247C>T (p.Pro83Ser) c.781C>T (p.Pro261Ser) n.227C>T c.161-3039C>T (n.161-3039C>T) c.292C>T (p.Pro98Ser) c.898C>T (p.Pro300Ser) c.52C>T (p.Pro18Ser) c.961C>T (p.Pro321Ser) | gnomAD v4 |
19 | g.10457969dup | CA2813576338 | PDE4A | c.968dup (p.Pro324AlafsTer21) c.890dup (p.Pro298AlafsTer21) c.251dup (p.Pro85AlafsTer21) c.785dup (p.Pro263AlafsTer21) n.231dup c.161-3035dup (n.161-3035dup) c.296dup (p.Pro100AlafsTer21) c.902dup (p.Pro302AlafsTer21) c.56dup (p.Pro20AlafsTer21) c.965dup (p.Pro323AlafsTer21) | |
19 | g.10457966C>A | CA404000747 | PDE4A | c.965C>A (p.Pro322His) c.887C>A (p.Pro296His) c.248C>A (p.Pro83His) c.782C>A (p.Pro261His) n.228C>A c.161-3038C>A (n.161-3038C>A) c.293C>A (p.Pro98His) c.899C>A (p.Pro300His) c.53C>A (p.Pro18His) c.962C>A (p.Pro321His) | gnomAD v4 |
19 | g.10457966C>G | CA404000750 | PDE4A | c.965C>G (p.Pro322Arg) c.887C>G (p.Pro296Arg) c.248C>G (p.Pro83Arg) c.782C>G (p.Pro261Arg) n.228C>G c.161-3038C>G (n.161-3038C>G) c.293C>G (p.Pro98Arg) c.899C>G (p.Pro300Arg) c.53C>G (p.Pro18Arg) c.962C>G (p.Pro321Arg) | |
19 | g.10457966C>T | CA404000748 | PDE4A | c.965C>T (p.Pro322Leu) c.887C>T (p.Pro296Leu) c.248C>T (p.Pro83Leu) c.782C>T (p.Pro261Leu) n.228C>T c.161-3038C>T (n.161-3038C>T) c.293C>T (p.Pro98Leu) c.899C>T (p.Pro300Leu) c.53C>T (p.Pro18Leu) c.962C>T (p.Pro321Leu) | |
19 | g.10457967C>A | CA505382680 | PDE4A | c.966C>A (p.Pro322=) c.888C>A (p.Pro296=) c.249C>A (p.Pro83=) c.783C>A (p.Pro261=) n.229C>A c.161-3037C>A (n.161-3037C>A) c.294C>A (p.Pro98=) c.900C>A (p.Pro300=) c.54C>A (p.Pro18=) c.963C>A (p.Pro321=) | |
19 | g.10457967C>G | CA505382679 | PDE4A | c.966C>G (p.Pro322=) c.888C>G (p.Pro296=) c.249C>G (p.Pro83=) c.783C>G (p.Pro261=) n.229C>G c.161-3037C>G (n.161-3037C>G) c.294C>G (p.Pro98=) c.900C>G (p.Pro300=) c.54C>G (p.Pro18=) c.963C>G (p.Pro321=) | |
19 | g.10457967C>T | CA505382678 | PDE4A | c.966C>T (p.Pro322=) c.888C>T (p.Pro296=) c.249C>T (p.Pro83=) c.783C>T (p.Pro261=) n.229C>T c.161-3037C>T (n.161-3037C>T) c.294C>T (p.Pro98=) c.900C>T (p.Pro300=) c.54C>T (p.Pro18=) c.963C>T (p.Pro321=) | gnomAD v4 |
19 | g.10457968C>A | CA404000753 | PDE4A | c.967C>A (p.Pro323Thr) c.889C>A (p.Pro297Thr) c.250C>A (p.Pro84Thr) c.784C>A (p.Pro262Thr) n.230C>A c.161-3036C>A (n.161-3036C>A) c.295C>A (p.Pro99Thr) c.901C>A (p.Pro301Thr) c.55C>A (p.Pro19Thr) c.964C>A (p.Pro322Thr) | |
19 | g.10457968C= | CA2322438490 | PDE4A | c.967C= (p.Pro323=) c.889C= (p.Pro297=) c.250C= (p.Pro84=) c.784C= (p.Pro262=) n.230C= c.161-3036C= (n.161-3036C=) c.295C= (p.Pro99=) c.901C= (p.Pro301=) c.55C= (p.Pro19=) c.964C= (p.Pro322=) | |
19 | g.10457968C>G | CA404000758 | PDE4A | c.967C>G (p.Pro323Ala) c.889C>G (p.Pro297Ala) c.250C>G (p.Pro84Ala) c.784C>G (p.Pro262Ala) n.230C>G c.161-3036C>G (n.161-3036C>G) c.295C>G (p.Pro99Ala) c.901C>G (p.Pro301Ala) c.55C>G (p.Pro19Ala) c.964C>G (p.Pro322Ala) | |
19 | g.10457968C>T | CA9194853 | PDE4A | c.967C>T (p.Pro323Ser) c.889C>T (p.Pro297Ser) c.250C>T (p.Pro84Ser) c.784C>T (p.Pro262Ser) n.230C>T c.161-3036C>T (n.161-3036C>T) c.295C>T (p.Pro99Ser) c.901C>T (p.Pro301Ser) c.55C>T (p.Pro19Ser) c.964C>T (p.Pro322Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457969C>A | CA404000760 | PDE4A | c.968C>A (p.Pro323Gln) c.890C>A (p.Pro297Gln) c.251C>A (p.Pro84Gln) c.785C>A (p.Pro262Gln) n.231C>A c.161-3035C>A (n.161-3035C>A) c.296C>A (p.Pro99Gln) c.902C>A (p.Pro301Gln) c.56C>A (p.Pro19Gln) c.965C>A (p.Pro322Gln) | |
19 | g.10457969C= | CA2322438491 | PDE4A | c.968C= (p.Pro323=) c.890C= (p.Pro297=) c.251C= (p.Pro84=) c.785C= (p.Pro262=) n.231C= c.161-3035C= (n.161-3035C=) c.296C= (p.Pro99=) c.902C= (p.Pro301=) c.56C= (p.Pro19=) c.965C= (p.Pro322=) | |
19 | g.10457969C>G | CA9194854 | PDE4A | c.968C>G (p.Pro323Arg) c.890C>G (p.Pro297Arg) c.251C>G (p.Pro84Arg) c.785C>G (p.Pro262Arg) n.231C>G c.161-3035C>G (n.161-3035C>G) c.296C>G (p.Pro99Arg) c.902C>G (p.Pro301Arg) c.56C>G (p.Pro19Arg) c.965C>G (p.Pro322Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457969C>T | CA9194855 | PDE4A | c.968C>T (p.Pro323Leu) c.890C>T (p.Pro297Leu) c.251C>T (p.Pro84Leu) c.785C>T (p.Pro262Leu) n.231C>T c.161-3035C>T (n.161-3035C>T) c.296C>T (p.Pro99Leu) c.902C>T (p.Pro301Leu) c.56C>T (p.Pro19Leu) c.965C>T (p.Pro322Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457970_10457971dup | CA2582385146 | PDE4A | c.969_970dup (p.Pro324ArgfsTer16) c.891_892dup (p.Pro298ArgfsTer16) c.252_253dup (p.Pro85ArgfsTer16) c.786_787dup (p.Pro263ArgfsTer16) n.232_233dup c.161-3034_161-3033dup (n.161-3034_161-3033dup) c.297_298dup (p.Pro100ArgfsTer16) c.903_904dup (p.Pro302ArgfsTer16) c.57_58dup (p.Pro20ArgfsTer16) c.966_967dup (p.Pro323ArgfsTer16) | gnomAD v4 |
19 | g.10457970G>A | CA305219106 | PDE4A | c.969G>A (p.Pro323=) c.891G>A (p.Pro297=) c.252G>A (p.Pro84=) c.786G>A (p.Pro262=) n.232G>A c.161-3034G>A (n.161-3034G>A) c.297G>A (p.Pro99=) c.903G>A (p.Pro301=) c.57G>A (p.Pro19=) c.966G>A (p.Pro322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10457970G>C | CA505382682 | PDE4A | c.969G>C (p.Pro323=) c.891G>C (p.Pro297=) c.252G>C (p.Pro84=) c.786G>C (p.Pro262=) n.232G>C c.161-3034G>C (n.161-3034G>C) c.297G>C (p.Pro99=) c.903G>C (p.Pro301=) c.57G>C (p.Pro19=) c.966G>C (p.Pro322=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10457970G= | CA2322438492 | PDE4A | c.969G= (p.Pro323=) c.891G= (p.Pro297=) c.252G= (p.Pro84=) c.786G= (p.Pro262=) n.232G= c.161-3034G= (n.161-3034G=) c.297G= (p.Pro99=) c.903G= (p.Pro301=) c.57G= (p.Pro19=) c.966G= (p.Pro322=) | |
19 | g.10457970G>T | CA505382681 | PDE4A | c.969G>T (p.Pro323=) c.891G>T (p.Pro297=) c.252G>T (p.Pro84=) c.786G>T (p.Pro262=) n.232G>T c.161-3034G>T (n.161-3034G>T) c.297G>T (p.Pro99=) c.903G>T (p.Pro301=) c.57G>T (p.Pro19=) c.966G>T (p.Pro322=) | |
19 | g.10457971C>A | CA404000769 | PDE4A | c.970C>A (p.Pro324Thr) c.892C>A (p.Pro298Thr) c.253C>A (p.Pro85Thr) c.787C>A (p.Pro263Thr) n.233C>A c.161-3033C>A (n.161-3033C>A) c.298C>A (p.Pro100Thr) c.904C>A (p.Pro302Thr) c.58C>A (p.Pro20Thr) c.967C>A (p.Pro323Thr) | |
19 | g.10457971C>G | CA404000770 | PDE4A | c.970C>G (p.Pro324Ala) c.892C>G (p.Pro298Ala) c.253C>G (p.Pro85Ala) c.787C>G (p.Pro263Ala) n.233C>G c.161-3033C>G (n.161-3033C>G) c.298C>G (p.Pro100Ala) c.904C>G (p.Pro302Ala) c.58C>G (p.Pro20Ala) c.967C>G (p.Pro323Ala) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
19 | g.10457971C>T | CA404000773 | PDE4A | c.970C>T (p.Pro324Ser) c.892C>T (p.Pro298Ser) c.253C>T (p.Pro85Ser) c.787C>T (p.Pro263Ser) n.233C>T c.161-3033C>T (n.161-3033C>T) c.298C>T (p.Pro100Ser) c.904C>T (p.Pro302Ser) c.58C>T (p.Pro20Ser) c.967C>T (p.Pro323Ser) | |
19 | g.10457972C>A | CA404000776 | PDE4A | c.971C>A (p.Pro324His) c.893C>A (p.Pro298His) c.254C>A (p.Pro85His) c.788C>A (p.Pro263His) n.234C>A c.161-3032C>A (n.161-3032C>A) c.299C>A (p.Pro100His) c.905C>A (p.Pro302His) c.59C>A (p.Pro20His) c.968C>A (p.Pro323His) | |
19 | g.10457972C>G | CA404000778 | PDE4A | c.971C>G (p.Pro324Arg) c.893C>G (p.Pro298Arg) c.254C>G (p.Pro85Arg) c.788C>G (p.Pro263Arg) n.234C>G c.161-3032C>G (n.161-3032C>G) c.299C>G (p.Pro100Arg) c.905C>G (p.Pro302Arg) c.59C>G (p.Pro20Arg) c.968C>G (p.Pro323Arg) | |
19 | g.10457972C>T | CA404000780 | PDE4A | c.971C>T (p.Pro324Leu) c.893C>T (p.Pro298Leu) c.254C>T (p.Pro85Leu) c.788C>T (p.Pro263Leu) n.234C>T c.161-3032C>T (n.161-3032C>T) c.299C>T (p.Pro100Leu) c.905C>T (p.Pro302Leu) c.59C>T (p.Pro20Leu) c.968C>T (p.Pro323Leu) | |
19 | g.10457975_10457994del | CA2582385147 | PDE4A | c.974_993del (p.Pro325HisfsTer13) c.896_915del (p.Pro299HisfsTer13) c.257_276del (p.Pro86HisfsTer13) c.791_810del (p.Pro264HisfsTer13) n.237_256del c.161-3029_161-3010del (n.161-3029_161-3010del) c.302_321del (p.Pro101HisfsTer13) c.908_927del (p.Pro303HisfsTer13) c.62_81del (p.Pro21HisfsTer13) c.971_990del (p.Pro324HisfsTer13) | gnomAD v4 |
19 | g.10457973C>A | CA505382683 | PDE4A | c.972C>A (p.Pro324=) c.894C>A (p.Pro298=) c.255C>A (p.Pro85=) c.789C>A (p.Pro263=) n.235C>A c.161-3031C>A (n.161-3031C>A) c.300C>A (p.Pro100=) c.906C>A (p.Pro302=) c.60C>A (p.Pro20=) c.969C>A (p.Pro323=) | |
19 | g.10457973C= | CA2322438493 | PDE4A | c.972C= (p.Pro324=) c.894C= (p.Pro298=) c.255C= (p.Pro85=) c.789C= (p.Pro263=) n.235C= c.161-3031C= (n.161-3031C=) c.300C= (p.Pro100=) c.906C= (p.Pro302=) c.60C= (p.Pro20=) c.969C= (p.Pro323=) | |
19 | g.10457973C>G | CA505382684 | PDE4A | c.972C>G (p.Pro324=) c.894C>G (p.Pro298=) c.255C>G (p.Pro85=) c.789C>G (p.Pro263=) n.235C>G c.161-3031C>G (n.161-3031C>G) c.300C>G (p.Pro100=) c.906C>G (p.Pro302=) c.60C>G (p.Pro20=) c.969C>G (p.Pro323=) | dbSNP gnomAD v4 |
19 | g.10457973C>T | CA505382685 | PDE4A | c.972C>T (p.Pro324=) c.894C>T (p.Pro298=) c.255C>T (p.Pro85=) c.789C>T (p.Pro263=) n.235C>T c.161-3031C>T (n.161-3031C>T) c.300C>T (p.Pro100=) c.906C>T (p.Pro302=) c.60C>T (p.Pro20=) c.969C>T (p.Pro323=) | |
19 | g.10457974C>A | CA404000782 | PDE4A | c.973C>A (p.Pro325Thr) c.895C>A (p.Pro299Thr) c.256C>A (p.Pro86Thr) c.790C>A (p.Pro264Thr) n.236C>A c.161-3030C>A (n.161-3030C>A) c.301C>A (p.Pro101Thr) c.907C>A (p.Pro303Thr) c.61C>A (p.Pro21Thr) c.970C>A (p.Pro324Thr) | |
19 | g.10457974C= | CA2322438494 | PDE4A | c.973C= (p.Pro325=) c.895C= (p.Pro299=) c.256C= (p.Pro86=) c.790C= (p.Pro264=) n.236C= c.161-3030C= (n.161-3030C=) c.301C= (p.Pro101=) c.907C= (p.Pro303=) c.61C= (p.Pro21=) c.970C= (p.Pro324=) | |
19 | g.10457974C>G | CA404000785 | PDE4A | c.973C>G (p.Pro325Ala) c.895C>G (p.Pro299Ala) c.256C>G (p.Pro86Ala) c.790C>G (p.Pro264Ala) n.236C>G c.161-3030C>G (n.161-3030C>G) c.301C>G (p.Pro101Ala) c.907C>G (p.Pro303Ala) c.61C>G (p.Pro21Ala) c.970C>G (p.Pro324Ala) | |
19 | g.10457974C>T | CA9194856 | PDE4A | c.973C>T (p.Pro325Ser) c.895C>T (p.Pro299Ser) c.256C>T (p.Pro86Ser) c.790C>T (p.Pro264Ser) n.236C>T c.161-3030C>T (n.161-3030C>T) c.301C>T (p.Pro101Ser) c.907C>T (p.Pro303Ser) c.61C>T (p.Pro21Ser) c.970C>T (p.Pro324Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10457975C>A | CA404000789 | PDE4A | c.974C>A (p.Pro325His) c.896C>A (p.Pro299His) c.257C>A (p.Pro86His) c.791C>A (p.Pro264His) n.237C>A c.161-3029C>A (n.161-3029C>A) c.302C>A (p.Pro101His) c.908C>A (p.Pro303His) c.62C>A (p.Pro21His) c.971C>A (p.Pro324His) | |
19 | g.10457975C>G | CA404000794 | PDE4A | c.974C>G (p.Pro325Arg) c.896C>G (p.Pro299Arg) c.257C>G (p.Pro86Arg) c.791C>G (p.Pro264Arg) n.237C>G c.161-3029C>G (n.161-3029C>G) c.302C>G (p.Pro101Arg) c.908C>G (p.Pro303Arg) c.62C>G (p.Pro21Arg) c.971C>G (p.Pro324Arg) | |
19 | g.10457975C>T | CA404000791 | PDE4A | c.974C>T (p.Pro325Leu) c.896C>T (p.Pro299Leu) c.257C>T (p.Pro86Leu) c.791C>T (p.Pro264Leu) n.237C>T c.161-3029C>T (n.161-3029C>T) c.302C>T (p.Pro101Leu) c.908C>T (p.Pro303Leu) c.62C>T (p.Pro21Leu) c.971C>T (p.Pro324Leu) |