| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.24841324G>A | CA1554287 | ADCY3 | c.1131C>T (p.Pro377=) c.399C>T (p.Pro133=) c.981C>T (p.Pro327=) n.514C>T c.144C>T (p.Pro48=) c.465C>T (p.Pro155=) c.408C>T (p.Pro136=) c.495C>T (p.Pro165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24841324G>C | CA425176952 | ADCY3 | c.1131C>G (p.Pro377=) c.399C>G (p.Pro133=) c.981C>G (p.Pro327=) n.514C>G c.144C>G (p.Pro48=) c.465C>G (p.Pro155=) c.408C>G (p.Pro136=) c.495C>G (p.Pro165=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841324G= | CA1239081939 | ADCY3 | c.1131C= (p.Pro377=) c.399C= (p.Pro133=) c.981C= (p.Pro327=) n.514C= c.144C= (p.Pro48=) c.465C= (p.Pro155=) c.408C= (p.Pro136=) c.495C= (p.Pro165=) | |
| 2 | g.24841324G>T | CA425176953 | ADCY3 | c.1131C>A (p.Pro377=) c.399C>A (p.Pro133=) c.981C>A (p.Pro327=) n.514C>A c.144C>A (p.Pro48=) c.465C>A (p.Pro155=) c.408C>A (p.Pro136=) c.495C>A (p.Pro165=) | dbSNP gnomAD v4 |
| 2 | g.24841325G>A | CA346064123 | ADCY3 | c.1130C>T (p.Pro377Leu) c.398C>T (p.Pro133Leu) c.464C>T c.980C>T (p.Pro327Leu) n.513C>T c.143C>T (p.Pro48Leu) c.464C>T (p.Pro155Leu) c.407C>T (p.Pro136Leu) c.494C>T (p.Pro165Leu) | |
| 2 | g.24841325G>C | CA346064124 | ADCY3 | c.1130C>G (p.Pro377Arg) c.398C>G (p.Pro133Arg) c.464C>G c.980C>G (p.Pro327Arg) n.513C>G c.143C>G (p.Pro48Arg) c.464C>G (p.Pro155Arg) c.407C>G (p.Pro136Arg) c.494C>G (p.Pro165Arg) | |
| 2 | g.24841325G>T | CA346064125 | ADCY3 | c.1130C>A (p.Pro377His) c.398C>A (p.Pro133His) c.464C>A c.980C>A (p.Pro327His) n.513C>A c.143C>A (p.Pro48His) c.464C>A (p.Pro155His) c.407C>A (p.Pro136His) c.494C>A (p.Pro165His) | |
| 2 | g.24841326G>A | CA346064127 | ADCY3 | c.1129C>T (p.Pro377Ser) c.397C>T (p.Pro133Ser) c.463C>T c.979C>T (p.Pro327Ser) n.512C>T c.142C>T (p.Pro48Ser) c.463C>T (p.Pro155Ser) c.406C>T (p.Pro136Ser) c.493C>T (p.Pro165Ser) | gnomAD v4 |
| 2 | g.24841326G>C | CA346064129 | ADCY3 | c.1129C>G (p.Pro377Ala) c.397C>G (p.Pro133Ala) c.463C>G c.979C>G (p.Pro327Ala) n.512C>G c.142C>G (p.Pro48Ala) c.463C>G (p.Pro155Ala) c.406C>G (p.Pro136Ala) c.493C>G (p.Pro165Ala) | |
| 2 | g.24841326G>T | CA346064135 | ADCY3 | c.1129C>A (p.Pro377Thr) c.397C>A (p.Pro133Thr) c.463C>A c.979C>A (p.Pro327Thr) n.512C>A c.142C>A (p.Pro48Thr) c.463C>A (p.Pro155Thr) c.406C>A (p.Pro136Thr) c.493C>A (p.Pro165Thr) | gnomAD v4 |
| 2 | g.24841327C>A | CA1554288 | ADCY3 | c.1128G>T (p.Leu376Phe) c.396G>T (p.Leu132Phe) c.462G>T (p.Leu154Phe) c.978G>T (p.Leu326Phe) n.511G>T c.141G>T (p.Leu47Phe) c.405G>T (p.Leu135Phe) c.492G>T (p.Leu164Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24841327C= | CA1239081940 | ADCY3 | c.1128G= (p.Leu376=) c.396G= (p.Leu132=) c.462G= (p.Leu154=) c.978G= (p.Leu326=) n.511G= c.141G= (p.Leu47=) c.405G= (p.Leu135=) c.492G= (p.Leu164=) | |
| 2 | g.24841327C>G | CA346064139 | ADCY3 | c.1128G>C (p.Leu376Phe) c.396G>C (p.Leu132Phe) c.462G>C (p.Leu154Phe) c.978G>C (p.Leu326Phe) n.511G>C c.141G>C (p.Leu47Phe) c.405G>C (p.Leu135Phe) c.492G>C (p.Leu164Phe) | gnomAD v4 |
| 2 | g.24841327C>T | CA1554289 | ADCY3 | c.1128G>A (p.Leu376=) c.396G>A (p.Leu132=) c.462G>A (p.Leu154=) c.978G>A (p.Leu326=) n.511G>A c.141G>A (p.Leu47=) c.405G>A (p.Leu135=) c.492G>A (p.Leu164=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.24841328A>C | CA346064141 | ADCY3 | c.1127T>G (p.Leu376Trp) c.395T>G (p.Leu132Trp) c.461T>G (p.Leu154Trp) c.977T>G (p.Leu326Trp) n.510T>G c.140T>G (p.Leu47Trp) c.404T>G (p.Leu135Trp) c.491T>G (p.Leu164Trp) | |
| 2 | g.24841328A>G | CA346064142 | ADCY3 | c.1127T>C (p.Leu376Ser) c.395T>C (p.Leu132Ser) c.461T>C (p.Leu154Ser) c.977T>C (p.Leu326Ser) n.510T>C c.140T>C (p.Leu47Ser) c.404T>C (p.Leu135Ser) c.491T>C (p.Leu164Ser) | |
| 2 | g.24841328A>T | CA346064143 | ADCY3 | c.1127T>A (p.Leu376Ter) c.395T>A (p.Leu132Ter) c.461T>A (p.Leu154Ter) c.977T>A (p.Leu326Ter) n.510T>A c.140T>A (p.Leu47Ter) c.404T>A (p.Leu135Ter) c.491T>A (p.Leu164Ter) | gnomAD v4 |
| 2 | g.24841329A>C | CA346064145 | ADCY3 | c.1126T>G (p.Leu376Val) c.394T>G (p.Leu132Val) c.460T>G (p.Leu154Val) c.976T>G (p.Leu326Val) n.509T>G c.139T>G (p.Leu47Val) c.403T>G (p.Leu135Val) c.490T>G (p.Leu164Val) | gnomAD v4 |
| 2 | g.24841329A>G | CA425176954 | ADCY3 | c.1126T>C (p.Leu376=) c.394T>C (p.Leu132=) c.460T>C (p.Leu154=) c.976T>C (p.Leu326=) n.509T>C c.139T>C (p.Leu47=) c.403T>C (p.Leu135=) c.490T>C (p.Leu164=) | |
| 2 | g.24841329A>T | CA346064146 | ADCY3 | c.1126T>A (p.Leu376Met) c.394T>A (p.Leu132Met) c.460T>A (p.Leu154Met) c.976T>A (p.Leu326Met) n.509T>A c.139T>A (p.Leu47Met) c.403T>A (p.Leu135Met) c.490T>A (p.Leu164Met) | |
| 2 | g.24841330G>A | CA425176955 | ADCY3 | c.1125C>T (p.Gly375=) c.393C>T (p.Gly131=) c.459C>T (p.Gly153=) c.975C>T (p.Gly325=) n.508C>T c.138C>T (p.Gly46=) c.402C>T (p.Gly134=) c.489C>T (p.Gly163=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841330G>C | CA425176956 | ADCY3 | c.1125C>G (p.Gly375=) c.393C>G (p.Gly131=) c.459C>G (p.Gly153=) c.975C>G (p.Gly325=) n.508C>G c.138C>G (p.Gly46=) c.402C>G (p.Gly134=) c.489C>G (p.Gly163=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.24841330G= | CA1239081941 | ADCY3 | c.1125C= (p.Gly375=) c.393C= (p.Gly131=) c.459C= (p.Gly153=) c.975C= (p.Gly325=) n.508C= c.138C= (p.Gly46=) c.402C= (p.Gly134=) c.489C= (p.Gly163=) | |
| 2 | g.24841330G>T | CA425176957 | ADCY3 | c.1125C>A (p.Gly375=) c.393C>A (p.Gly131=) c.459C>A (p.Gly153=) c.975C>A (p.Gly325=) n.508C>A c.138C>A (p.Gly46=) c.402C>A (p.Gly134=) c.489C>A (p.Gly163=) | gnomAD v4 |
| 2 | g.24841331C>A | CA346064148 | ADCY3 | c.1124G>T (p.Gly375Val) c.392G>T (p.Gly131Val) c.458G>T (p.Gly153Val) c.974G>T (p.Gly325Val) n.507G>T c.137G>T (p.Gly46Val) c.401G>T (p.Gly134Val) c.488G>T (p.Gly163Val) | gnomAD v4 |
| 2 | g.24841331C= | CA1239081942 | ADCY3 | c.1124G= (p.Gly375=) c.392G= (p.Gly131=) c.458G= (p.Gly153=) c.974G= (p.Gly325=) n.507G= c.137G= (p.Gly46=) c.401G= (p.Gly134=) c.488G= (p.Gly163=) | |
| 2 | g.24841331C>G | CA346064152 | ADCY3 | c.1124G>C (p.Gly375Ala) c.392G>C (p.Gly131Ala) c.458G>C (p.Gly153Ala) c.974G>C (p.Gly325Ala) n.507G>C c.137G>C (p.Gly46Ala) c.401G>C (p.Gly134Ala) c.488G>C (p.Gly163Ala) | |
| 2 | g.24841331C>T | CA346064150 | ADCY3 | c.1124G>A (p.Gly375Asp) c.392G>A (p.Gly131Asp) c.458G>A (p.Gly153Asp) c.974G>A (p.Gly325Asp) n.507G>A c.137G>A (p.Gly46Asp) c.401G>A (p.Gly134Asp) c.488G>A (p.Gly163Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.24841332C>A | CA346064154 | ADCY3 | c.1123G>T (p.Gly375Cys) c.391G>T (p.Gly131Cys) c.457G>T (p.Gly153Cys) c.973G>T (p.Gly325Cys) n.506G>T c.136G>T (p.Gly46Cys) c.400G>T (p.Gly134Cys) c.487G>T (p.Gly163Cys) | gnomAD v4 |
| 2 | g.24841332C= | CA1239081943 | ADCY3 | c.1123G= (p.Gly375=) c.391G= (p.Gly131=) c.457G= (p.Gly153=) c.973G= (p.Gly325=) n.506G= c.136G= (p.Gly46=) c.400G= (p.Gly134=) c.487G= (p.Gly163=) | |
| 2 | g.24841332C>G | CA346064158 | ADCY3 | c.1123G>C (p.Gly375Arg) c.391G>C (p.Gly131Arg) c.457G>C (p.Gly153Arg) c.973G>C (p.Gly325Arg) n.506G>C c.136G>C (p.Gly46Arg) c.400G>C (p.Gly134Arg) c.487G>C (p.Gly163Arg) | |
| 2 | g.24841332C>T | CA346064156 | ADCY3 | c.1123G>A (p.Gly375Ser) c.391G>A (p.Gly131Ser) c.457G>A (p.Gly153Ser) c.973G>A (p.Gly325Ser) n.506G>A c.136G>A (p.Gly46Ser) c.400G>A (p.Gly134Ser) c.487G>A (p.Gly163Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24841333G>A | CA1554290 | ADCY3 | c.1122C>T (p.Cys374=) c.390C>T (p.Cys130=) c.456C>T (p.Cys152=) c.972C>T (p.Cys324=) n.505C>T c.135C>T (p.Cys45=) c.399C>T (p.Cys133=) c.486C>T (p.Cys162=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24841333G>C | CA346064161 | ADCY3 | c.1122C>G (p.Cys374Trp) c.390C>G (p.Cys130Trp) c.456C>G (p.Cys152Trp) c.972C>G (p.Cys324Trp) n.505C>G c.135C>G (p.Cys45Trp) c.399C>G (p.Cys133Trp) c.486C>G (p.Cys162Trp) | |
| 2 | g.24841333G= | CA1239081944 | ADCY3 | c.1122C= (p.Cys374=) c.390C= (p.Cys130=) c.456C= (p.Cys152=) c.972C= (p.Cys324=) n.505C= c.135C= (p.Cys45=) c.399C= (p.Cys133=) c.486C= (p.Cys162=) | |
| 2 | g.24841333G>T | CA346064163 | ADCY3 | c.1122C>A (p.Cys374Ter) c.390C>A (p.Cys130Ter) c.456C>A (p.Cys152Ter) c.972C>A (p.Cys324Ter) n.505C>A c.135C>A (p.Cys45Ter) c.399C>A (p.Cys133Ter) c.486C>A (p.Cys162Ter) | gnomAD v4 |
| 2 | g.24841334C>A | CA346064164 | ADCY3 | c.1121G>T (p.Cys374Phe) c.389G>T (p.Cys130Phe) c.455G>T (p.Cys152Phe) c.971G>T (p.Cys324Phe) n.504G>T c.134G>T (p.Cys45Phe) c.398G>T (p.Cys133Phe) c.485G>T (p.Cys162Phe) | |
| 2 | g.24841334C= | CA1239081945 | ADCY3 | c.1121G= (p.Cys374=) c.389G= (p.Cys130=) c.455G= (p.Cys152=) c.971G= (p.Cys324=) n.504G= c.134G= (p.Cys45=) c.398G= (p.Cys133=) c.485G= (p.Cys162=) | |
| 2 | g.24841334C>G | CA346064166 | ADCY3 | c.1121G>C (p.Cys374Ser) c.389G>C (p.Cys130Ser) c.455G>C (p.Cys152Ser) c.971G>C (p.Cys324Ser) n.504G>C c.134G>C (p.Cys45Ser) c.398G>C (p.Cys133Ser) c.485G>C (p.Cys162Ser) | |
| 2 | g.24841334C>T | CA1554291 | ADCY3 | c.1121G>A (p.Cys374Tyr) c.389G>A (p.Cys130Tyr) c.455G>A (p.Cys152Tyr) c.971G>A (p.Cys324Tyr) n.504G>A c.134G>A (p.Cys45Tyr) c.398G>A (p.Cys133Tyr) c.485G>A (p.Cys162Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.24841335A>C | CA346064169 | ADCY3 | c.1120T>G (p.Cys374Gly) c.388T>G (p.Cys130Gly) c.454T>G (p.Cys152Gly) c.970T>G (p.Cys324Gly) n.503T>G c.133T>G (p.Cys45Gly) c.397T>G (p.Cys133Gly) c.484T>G (p.Cys162Gly) | |
| 2 | g.24841335A>G | CA346064171 | ADCY3 | c.1120T>C (p.Cys374Arg) c.388T>C (p.Cys130Arg) c.454T>C (p.Cys152Arg) c.970T>C (p.Cys324Arg) n.503T>C c.133T>C (p.Cys45Arg) c.397T>C (p.Cys133Arg) c.484T>C (p.Cys162Arg) | |
| 2 | g.24841335A>T | CA346064173 | ADCY3 | c.1120T>A (p.Cys374Ser) c.388T>A (p.Cys130Ser) c.454T>A (p.Cys152Ser) c.970T>A (p.Cys324Ser) n.503T>A c.133T>A (p.Cys45Ser) c.397T>A (p.Cys133Ser) c.484T>A (p.Cys162Ser) | |
| 2 | g.24841336G>A | CA425176958 | ADCY3 | c.1119C>T (p.Ile373=) c.387C>T (p.Ile129=) c.453C>T (p.Ile151=) c.969C>T (p.Ile323=) n.502C>T c.132C>T (p.Ile44=) c.396C>T (p.Ile132=) c.483C>T (p.Ile161=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.24841336G>C | CA346064175 | ADCY3 | c.1119C>G (p.Ile373Met) c.387C>G (p.Ile129Met) c.453C>G (p.Ile151Met) c.969C>G (p.Ile323Met) n.502C>G c.132C>G (p.Ile44Met) c.396C>G (p.Ile132Met) c.483C>G (p.Ile161Met) | |
| 2 | g.24841336G= | CA1239081946 | ADCY3 | c.1119C= (p.Ile373=) c.387C= (p.Ile129=) c.453C= (p.Ile151=) c.969C= (p.Ile323=) n.502C= c.132C= (p.Ile44=) c.396C= (p.Ile132=) c.483C= (p.Ile161=) | |
| 2 | g.24841336G>T | CA425176959 | ADCY3 | c.1119C>A (p.Ile373=) c.387C>A (p.Ile129=) c.453C>A (p.Ile151=) c.969C>A (p.Ile323=) n.502C>A c.132C>A (p.Ile44=) c.396C>A (p.Ile132=) c.483C>A (p.Ile161=) | |
| 2 | g.24841337A= | CA1239081947 | ADCY3 | c.1118T= (p.Ile373=) c.386T= (p.Ile129=) c.452T= (p.Ile151=) c.968T= (p.Ile323=) n.501T= c.131T= (p.Ile44=) c.395T= (p.Ile132=) c.482T= (p.Ile161=) | |
| 2 | g.24841337A>C | CA346064177 | ADCY3 | c.1118T>G (p.Ile373Ser) c.386T>G (p.Ile129Ser) c.452T>G (p.Ile151Ser) c.968T>G (p.Ile323Ser) n.501T>G c.131T>G (p.Ile44Ser) c.395T>G (p.Ile132Ser) c.482T>G (p.Ile161Ser) | |
| 2 | g.24841337A>G | CA43638564 | ADCY3 | c.1118T>C (p.Ile373Thr) c.386T>C (p.Ile129Thr) c.452T>C (p.Ile151Thr) c.968T>C (p.Ile323Thr) n.501T>C c.131T>C (p.Ile44Thr) c.395T>C (p.Ile132Thr) c.482T>C (p.Ile161Thr) | dbSNP gnomAD v4 |