Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.4576587C>A | CA463728318 | SLC1A1,SPATA6L | c.1017C>A (p.Val339=) c.304C>A c.*782-22199G>T (n.*782-22199G>T) c.1086C>A (p.Val362=) c.1026C>A (p.Val342=) c.957C>A (p.Val319=) c.876C>A (p.Val292=) c.*1+27592G>T (n.*1+27592G>T) c.978C>A (p.Val326=) c.909C>A (p.Val303=) n.1478+24066G>T | gnomAD v4 |
9 | g.4576587C>G | CA463728319 | SLC1A1,SPATA6L | c.1017C>G (p.Val339=) c.304C>G c.*782-22199G>C (n.*782-22199G>C) c.1086C>G (p.Val362=) c.1026C>G (p.Val342=) c.957C>G (p.Val319=) c.876C>G (p.Val292=) c.*1+27592G>C (n.*1+27592G>C) c.978C>G (p.Val326=) c.909C>G (p.Val303=) n.1478+24066G>C | |
9 | g.4576587C>T | CA463728320 | SLC1A1,SPATA6L | c.1017C>T (p.Val339=) c.304C>T c.*782-22199G>A (n.*782-22199G>A) c.1086C>T (p.Val362=) c.1026C>T (p.Val342=) c.957C>T (p.Val319=) c.876C>T (p.Val292=) c.*1+27592G>A (n.*1+27592G>A) c.978C>T (p.Val326=) c.909C>T (p.Val303=) n.1478+24066G>A | |
9 | g.4576588A>C | CA372818295 | SLC1A1,SPATA6L | c.1018A>C (p.Thr340Pro) c.305A>C c.*782-22200T>G (n.*782-22200T>G) c.1087A>C (p.Thr363Pro) c.1027A>C (p.Thr343Pro) c.958A>C (p.Thr320Pro) c.877A>C (p.Thr293Pro) c.*1+27591T>G (n.*1+27591T>G) c.979A>C (p.Thr327Pro) c.910A>C (p.Thr304Pro) n.1478+24065T>G | |
9 | g.4576588A>G | CA372818292 | SLC1A1,SPATA6L | c.1018A>G (p.Thr340Ala) c.305A>G c.*782-22200T>C (n.*782-22200T>C) c.1087A>G (p.Thr363Ala) c.1027A>G (p.Thr343Ala) c.958A>G (p.Thr320Ala) c.877A>G (p.Thr293Ala) c.*1+27591T>C (n.*1+27591T>C) c.979A>G (p.Thr327Ala) c.910A>G (p.Thr304Ala) n.1478+24065T>C | |
9 | g.4576588A>T | CA372818293 | SLC1A1,SPATA6L | c.1018A>T (p.Thr340Ser) c.305A>T c.*782-22200T>A (n.*782-22200T>A) c.1087A>T (p.Thr363Ser) c.1027A>T (p.Thr343Ser) c.958A>T (p.Thr320Ser) c.877A>T (p.Thr293Ser) c.*1+27591T>A (n.*1+27591T>A) c.979A>T (p.Thr327Ser) c.910A>T (p.Thr304Ser) n.1478+24065T>A | |
9 | g.4576589C>A | CA372818298 | SLC1A1,SPATA6L | c.1019C>A (p.Thr340Asn) c.306C>A c.*782-22201G>T (n.*782-22201G>T) c.1088C>A (p.Thr363Asn) c.1028C>A (p.Thr343Asn) c.959C>A (p.Thr320Asn) c.878C>A (p.Thr293Asn) c.*1+27590G>T (n.*1+27590G>T) c.980C>A (p.Thr327Asn) c.911C>A (p.Thr304Asn) n.1478+24064G>T | |
9 | g.4576589C= | CA1829385456 | SLC1A1,SPATA6L | c.1019C= (p.Thr340=) c.306C= c.*782-22201G= (n.*782-22201G=) c.1088C= (p.Thr363=) c.1028C= (p.Thr343=) c.959C= (p.Thr320=) c.878C= (p.Thr293=) c.*1+27590G= (n.*1+27590G=) c.980C= (p.Thr327=) c.911C= (p.Thr304=) n.1478+24064G= | |
9 | g.4576589C>G | CA372818299 | SLC1A1,SPATA6L | c.1019C>G (p.Thr340Ser) c.306C>G c.*782-22201G>C (n.*782-22201G>C) c.1088C>G (p.Thr363Ser) c.1028C>G (p.Thr343Ser) c.959C>G (p.Thr320Ser) c.878C>G (p.Thr293Ser) c.*1+27590G>C (n.*1+27590G>C) c.980C>G (p.Thr327Ser) c.911C>G (p.Thr304Ser) n.1478+24064G>C | |
9 | g.4576589C>T | CA372818300 | SLC1A1,SPATA6L | c.1019C>T (p.Thr340Ile) c.306C>T c.*782-22201G>A (n.*782-22201G>A) c.1088C>T (p.Thr363Ile) c.1028C>T (p.Thr343Ile) c.959C>T (p.Thr320Ile) c.878C>T (p.Thr293Ile) c.*1+27590G>A (n.*1+27590G>A) c.980C>T (p.Thr327Ile) c.911C>T (p.Thr304Ile) n.1478+24064G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576590C>A | CA463728325 | SLC1A1,SPATA6L | c.1020C>A (p.Thr340=) c.307C>A c.*782-22202G>T (n.*782-22202G>T) c.1089C>A (p.Thr363=) c.1029C>A (p.Thr343=) c.960C>A (p.Thr320=) c.879C>A (p.Thr293=) c.*1+27589G>T (n.*1+27589G>T) c.981C>A (p.Thr327=) c.912C>A (p.Thr304=) n.1478+24063G>T | |
9 | g.4576590C>G | CA463728328 | SLC1A1,SPATA6L | c.1020C>G (p.Thr340=) c.307C>G c.*782-22202G>C (n.*782-22202G>C) c.1089C>G (p.Thr363=) c.1029C>G (p.Thr343=) c.960C>G (p.Thr320=) c.879C>G (p.Thr293=) c.*1+27589G>C (n.*1+27589G>C) c.981C>G (p.Thr327=) c.912C>G (p.Thr304=) n.1478+24063G>C | |
9 | g.4576590C>T | CA463728326 | SLC1A1,SPATA6L | c.1020C>T (p.Thr340=) c.307C>T c.*782-22202G>A (n.*782-22202G>A) c.1089C>T (p.Thr363=) c.1029C>T (p.Thr343=) c.960C>T (p.Thr320=) c.879C>T (p.Thr293=) c.*1+27589G>A (n.*1+27589G>A) c.981C>T (p.Thr327=) c.912C>T (p.Thr304=) n.1478+24063G>A | gnomAD v4 |
9 | g.4576591T>A | CA372818301 | SLC1A1,SPATA6L | c.1021T>A (p.Phe341Ile) c.308T>A c.*782-22203A>T (n.*782-22203A>T) c.1090T>A (p.Phe364Ile) c.1030T>A (p.Phe344Ile) c.961T>A (p.Phe321Ile) c.880T>A (p.Phe294Ile) c.*1+27588A>T (n.*1+27588A>T) c.982T>A (p.Phe328Ile) c.913T>A (p.Phe305Ile) n.1478+24062A>T | gnomAD v4 |
9 | g.4576591T>C | CA372818302 | SLC1A1,SPATA6L | c.1021T>C (p.Phe341Leu) c.308T>C c.*782-22203A>G (n.*782-22203A>G) c.1090T>C (p.Phe364Leu) c.1030T>C (p.Phe344Leu) c.961T>C (p.Phe321Leu) c.880T>C (p.Phe294Leu) c.*1+27588A>G (n.*1+27588A>G) c.982T>C (p.Phe328Leu) c.913T>C (p.Phe305Leu) n.1478+24062A>G | |
9 | g.4576591T>G | CA372818303 | SLC1A1,SPATA6L | c.1021T>G (p.Phe341Val) c.308T>G c.*782-22203A>C (n.*782-22203A>C) c.1090T>G (p.Phe364Val) c.1030T>G (p.Phe344Val) c.961T>G (p.Phe321Val) c.880T>G (p.Phe294Val) c.*1+27588A>C (n.*1+27588A>C) c.982T>G (p.Phe328Val) c.913T>G (p.Phe305Val) n.1478+24062A>C | |
9 | g.4576592T>A | CA372818304 | SLC1A1,SPATA6L | c.1022T>A (p.Phe341Tyr) c.309T>A c.*782-22204A>T (n.*782-22204A>T) c.1091T>A (p.Phe364Tyr) c.1031T>A (p.Phe344Tyr) c.962T>A (p.Phe321Tyr) c.881T>A (p.Phe294Tyr) c.*1+27587A>T (n.*1+27587A>T) c.983T>A (p.Phe328Tyr) c.914T>A (p.Phe305Tyr) n.1478+24061A>T | |
9 | g.4576592T>C | CA372818305 | SLC1A1,SPATA6L | c.1022T>C (p.Phe341Ser) c.309T>C c.*782-22204A>G (n.*782-22204A>G) c.1091T>C (p.Phe364Ser) c.1031T>C (p.Phe344Ser) c.962T>C (p.Phe321Ser) c.881T>C (p.Phe294Ser) c.*1+27587A>G (n.*1+27587A>G) c.983T>C (p.Phe328Ser) c.914T>C (p.Phe305Ser) n.1478+24061A>G | |
9 | g.4576592T>G | CA372818306 | SLC1A1,SPATA6L | c.1022T>G (p.Phe341Cys) c.309T>G c.*782-22204A>C (n.*782-22204A>C) c.1091T>G (p.Phe364Cys) c.1031T>G (p.Phe344Cys) c.962T>G (p.Phe321Cys) c.881T>G (p.Phe294Cys) c.*1+27587A>C (n.*1+27587A>C) c.983T>G (p.Phe328Cys) c.914T>G (p.Phe305Cys) n.1478+24061A>C | |
9 | g.4576593C>A | CA372818307 | SLC1A1,SPATA6L | c.1023C>A (p.Phe341Leu) c.310C>A c.*782-22205G>T (n.*782-22205G>T) c.1092C>A (p.Phe364Leu) c.1032C>A (p.Phe344Leu) c.963C>A (p.Phe321Leu) c.882C>A (p.Phe294Leu) c.*1+27586G>T (n.*1+27586G>T) c.984C>A (p.Phe328Leu) c.915C>A (p.Phe305Leu) n.1478+24060G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576593C= | CA1829385459 | SLC1A1,SPATA6L | c.1023C= (p.Phe341=) c.310C= c.*782-22205G= (n.*782-22205G=) c.1092C= (p.Phe364=) c.1032C= (p.Phe344=) c.963C= (p.Phe321=) c.882C= (p.Phe294=) c.*1+27586G= (n.*1+27586G=) c.984C= (p.Phe328=) c.915C= (p.Phe305=) n.1478+24060G= | |
9 | g.4576593C>G | CA372818308 | SLC1A1,SPATA6L | c.1023C>G (p.Phe341Leu) c.310C>G c.*782-22205G>C (n.*782-22205G>C) c.1092C>G (p.Phe364Leu) c.1032C>G (p.Phe344Leu) c.963C>G (p.Phe321Leu) c.882C>G (p.Phe294Leu) c.*1+27586G>C (n.*1+27586G>C) c.984C>G (p.Phe328Leu) c.915C>G (p.Phe305Leu) n.1478+24060G>C | |
9 | g.4576593C>T | CA463728336 | SLC1A1,SPATA6L | c.1023C>T (p.Phe341=) c.310C>T c.*782-22205G>A (n.*782-22205G>A) c.1092C>T (p.Phe364=) c.1032C>T (p.Phe344=) c.963C>T (p.Phe321=) c.882C>T (p.Phe294=) c.*1+27586G>A (n.*1+27586G>A) c.984C>T (p.Phe328=) c.915C>T (p.Phe305=) n.1478+24060G>A | gnomAD v4 |
9 | g.4576594C>A | CA372818310 | SLC1A1,SPATA6L | c.1024C>A (p.Arg342Ser) c.311C>A c.*782-22206G>T (n.*782-22206G>T) c.1093C>A (p.Arg365Ser) c.1033C>A (p.Arg345Ser) c.964C>A (p.Arg322Ser) c.883C>A (p.Arg295Ser) c.*1+27585G>T (n.*1+27585G>T) c.985C>A (p.Arg329Ser) c.916C>A (p.Arg306Ser) n.1478+24059G>T | |
9 | g.4576594C= | CA1829385462 | SLC1A1,SPATA6L | c.1024C= (p.Arg342=) c.311C= c.*782-22206G= (n.*782-22206G=) c.1093C= (p.Arg365=) c.1033C= (p.Arg345=) c.964C= (p.Arg322=) c.883C= (p.Arg295=) c.*1+27585G= (n.*1+27585G=) c.985C= (p.Arg329=) c.916C= (p.Arg306=) n.1478+24059G= | |
9 | g.4576594C>G | CA372818309 | SLC1A1,SPATA6L | c.1024C>G (p.Arg342Gly) c.311C>G c.*782-22206G>C (n.*782-22206G>C) c.1093C>G (p.Arg365Gly) c.1033C>G (p.Arg345Gly) c.964C>G (p.Arg322Gly) c.883C>G (p.Arg295Gly) c.*1+27585G>C (n.*1+27585G>C) c.985C>G (p.Arg329Gly) c.916C>G (p.Arg306Gly) n.1478+24059G>C | |
9 | g.4576594C>T | CA4969215 | SLC1A1,SPATA6L | c.1024C>T (p.Arg342Cys) c.311C>T c.*782-22206G>A (n.*782-22206G>A) c.1093C>T (p.Arg365Cys) c.1033C>T (p.Arg345Cys) c.964C>T (p.Arg322Cys) c.883C>T (p.Arg295Cys) c.*1+27585G>A (n.*1+27585G>A) c.985C>T (p.Arg329Cys) c.916C>T (p.Arg306Cys) n.1478+24059G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.4576595G>A | CA4969216 | SLC1A1,SPATA6L | c.1025G>A (p.Arg342His) c.312G>A c.*782-22207C>T (n.*782-22207C>T) c.1094G>A (p.Arg365His) c.1034G>A (p.Arg345His) c.965G>A (p.Arg322His) c.884G>A (p.Arg295His) c.*1+27584C>T (n.*1+27584C>T) c.986G>A (p.Arg329His) c.917G>A (p.Arg306His) n.1478+24058C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576595G>C | CA372818312 | SLC1A1,SPATA6L | c.1025G>C (p.Arg342Pro) c.312G>C c.*782-22207C>G (n.*782-22207C>G) c.1094G>C (p.Arg365Pro) c.1034G>C (p.Arg345Pro) c.965G>C (p.Arg322Pro) c.884G>C (p.Arg295Pro) c.*1+27584C>G (n.*1+27584C>G) c.986G>C (p.Arg329Pro) c.917G>C (p.Arg306Pro) n.1478+24058C>G | |
9 | g.4576595G= | CA1829385463 | SLC1A1,SPATA6L | c.1025G= (p.Arg342=) c.312G= c.*782-22207C= (n.*782-22207C=) c.1094G= (p.Arg365=) c.1034G= (p.Arg345=) c.965G= (p.Arg322=) c.884G= (p.Arg295=) c.*1+27584C= (n.*1+27584C=) c.986G= (p.Arg329=) c.917G= (p.Arg306=) n.1478+24058C= | |
9 | g.4576595G>T | CA372818311 | SLC1A1,SPATA6L | c.1025G>T (p.Arg342Leu) c.312G>T c.*782-22207C>A (n.*782-22207C>A) c.1094G>T (p.Arg365Leu) c.1034G>T (p.Arg345Leu) c.965G>T (p.Arg322Leu) c.884G>T (p.Arg295Leu) c.*1+27584C>A (n.*1+27584C>A) c.986G>T (p.Arg329Leu) c.917G>T (p.Arg306Leu) n.1478+24058C>A | |
9 | g.4576596C>A | CA463728344 | SLC1A1,SPATA6L | c.1026C>A (p.Arg342=) c.313C>A c.*782-22208G>T (n.*782-22208G>T) c.1095C>A (p.Arg365=) c.1035C>A (p.Arg345=) c.966C>A (p.Arg322=) c.885C>A (p.Arg295=) c.*1+27583G>T (n.*1+27583G>T) c.987C>A (p.Arg329=) c.918C>A (p.Arg306=) n.1478+24057G>T | |
9 | g.4576596C>G | CA463728346 | SLC1A1,SPATA6L | c.1026C>G (p.Arg342=) c.313C>G c.*782-22208G>C (n.*782-22208G>C) c.1095C>G (p.Arg365=) c.1035C>G (p.Arg345=) c.966C>G (p.Arg322=) c.885C>G (p.Arg295=) c.*1+27583G>C (n.*1+27583G>C) c.987C>G (p.Arg329=) c.918C>G (p.Arg306=) n.1478+24057G>C | |
9 | g.4576596C>T | CA463728347 | SLC1A1,SPATA6L | c.1026C>T (p.Arg342=) c.313C>T c.*782-22208G>A (n.*782-22208G>A) c.1095C>T (p.Arg365=) c.1035C>T (p.Arg345=) c.966C>T (p.Arg322=) c.885C>T (p.Arg295=) c.*1+27583G>A (n.*1+27583G>A) c.987C>T (p.Arg329=) c.918C>T (p.Arg306=) n.1478+24057G>A | |
9 | g.4576597T>A | CA372818313 | SLC1A1,SPATA6L | c.1027T>A (p.Cys343Ser) c.314T>A c.*782-22209A>T (n.*782-22209A>T) c.1096T>A (p.Cys366Ser) c.1036T>A (p.Cys346Ser) c.967T>A (p.Cys323Ser) c.886T>A (p.Cys296Ser) c.*1+27582A>T (n.*1+27582A>T) c.988T>A (p.Cys330Ser) c.919T>A (p.Cys307Ser) n.1478+24056A>T | |
9 | g.4576597T>C | CA372818315 | SLC1A1,SPATA6L | c.1027T>C (p.Cys343Arg) c.314T>C c.*782-22209A>G (n.*782-22209A>G) c.1096T>C (p.Cys366Arg) c.1036T>C (p.Cys346Arg) c.967T>C (p.Cys323Arg) c.886T>C (p.Cys296Arg) c.*1+27582A>G (n.*1+27582A>G) c.988T>C (p.Cys330Arg) c.919T>C (p.Cys307Arg) n.1478+24056A>G | |
9 | g.4576597T>G | CA372818314 | SLC1A1,SPATA6L | c.1027T>G (p.Cys343Gly) c.314T>G c.*782-22209A>C (n.*782-22209A>C) c.1096T>G (p.Cys366Gly) c.1036T>G (p.Cys346Gly) c.967T>G (p.Cys323Gly) c.886T>G (p.Cys296Gly) c.*1+27582A>C (n.*1+27582A>C) c.988T>G (p.Cys330Gly) c.919T>G (p.Cys307Gly) n.1478+24056A>C | |
9 | g.4576598G>A | CA372818316 | SLC1A1,SPATA6L | c.1028G>A (p.Cys343Tyr) c.315G>A c.*782-22210C>T (n.*782-22210C>T) c.1097G>A (p.Cys366Tyr) c.1037G>A (p.Cys346Tyr) c.968G>A (p.Cys323Tyr) c.887G>A (p.Cys296Tyr) c.*1+27581C>T (n.*1+27581C>T) c.989G>A (p.Cys330Tyr) c.920G>A (p.Cys307Tyr) n.1478+24055C>T | |
9 | g.4576598G>C | CA372818318 | SLC1A1,SPATA6L | c.1028G>C (p.Cys343Ser) c.315G>C c.*782-22210C>G (n.*782-22210C>G) c.1097G>C (p.Cys366Ser) c.1037G>C (p.Cys346Ser) c.968G>C (p.Cys323Ser) c.887G>C (p.Cys296Ser) c.*1+27581C>G (n.*1+27581C>G) c.989G>C (p.Cys330Ser) c.920G>C (p.Cys307Ser) n.1478+24055C>G | |
9 | g.4576598G= | CA1829385464 | SLC1A1,SPATA6L | c.1028G= (p.Cys343=) c.315G= c.*782-22210C= (n.*782-22210C=) c.1097G= (p.Cys366=) c.1037G= (p.Cys346=) c.968G= (p.Cys323=) c.887G= (p.Cys296=) c.*1+27581C= (n.*1+27581C=) c.989G= (p.Cys330=) c.920G= (p.Cys307=) n.1478+24055C= | |
9 | g.4576598G>T | CA372818317 | SLC1A1,SPATA6L | c.1028G>T (p.Cys343Phe) c.315G>T c.*782-22210C>A (n.*782-22210C>A) c.1097G>T (p.Cys366Phe) c.1037G>T (p.Cys346Phe) c.968G>T (p.Cys323Phe) c.887G>T (p.Cys296Phe) c.*1+27581C>A (n.*1+27581C>A) c.989G>T (p.Cys330Phe) c.920G>T (p.Cys307Phe) n.1478+24055C>A | dbSNP gnomAD v4 |
9 | g.4576599T>A | CA372818319 | SLC1A1,SPATA6L | c.1029T>A (p.Cys343Ter) c.316T>A c.*782-22211A>T (n.*782-22211A>T) c.1098T>A (p.Cys366Ter) c.1038T>A (p.Cys346Ter) c.969T>A (p.Cys323Ter) c.888T>A (p.Cys296Ter) c.*1+27580A>T (n.*1+27580A>T) c.990T>A (p.Cys330Ter) c.921T>A (p.Cys307Ter) n.1478+24054A>T | |
9 | g.4576599T>C | CA463728357 | SLC1A1,SPATA6L | c.1029T>C (p.Cys343=) c.316T>C c.*782-22211A>G (n.*782-22211A>G) c.1098T>C (p.Cys366=) c.1038T>C (p.Cys346=) c.969T>C (p.Cys323=) c.888T>C (p.Cys296=) c.*1+27580A>G (n.*1+27580A>G) c.990T>C (p.Cys330=) c.921T>C (p.Cys307=) n.1478+24054A>G | |
9 | g.4576599T>G | CA372818320 | SLC1A1,SPATA6L | c.1029T>G (p.Cys343Trp) c.316T>G c.*782-22211A>C (n.*782-22211A>C) c.1098T>G (p.Cys366Trp) c.1038T>G (p.Cys346Trp) c.969T>G (p.Cys323Trp) c.888T>G (p.Cys296Trp) c.*1+27580A>C (n.*1+27580A>C) c.990T>G (p.Cys330Trp) c.921T>G (p.Cys307Trp) n.1478+24054A>C | |
9 | g.4576600G>A | CA372818321 | SLC1A1,SPATA6L | c.1030G>A (p.Ala344Thr) c.317G>A c.*782-22212C>T (n.*782-22212C>T) c.1099G>A (p.Ala367Thr) c.1039G>A (p.Ala347Thr) c.970G>A (p.Ala324Thr) c.889G>A (p.Ala297Thr) c.*1+27579C>T (n.*1+27579C>T) c.991G>A (p.Ala331Thr) c.922G>A (p.Ala308Thr) n.1478+24053C>T | |
9 | g.4576600G>C | CA372818322 | SLC1A1,SPATA6L | c.1030G>C (p.Ala344Pro) c.317G>C c.*782-22212C>G (n.*782-22212C>G) c.1099G>C (p.Ala367Pro) c.1039G>C (p.Ala347Pro) c.970G>C (p.Ala324Pro) c.889G>C (p.Ala297Pro) c.*1+27579C>G (n.*1+27579C>G) c.991G>C (p.Ala331Pro) c.922G>C (p.Ala308Pro) n.1478+24053C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.4576600G= | CA1829385465 | SLC1A1,SPATA6L | c.1030G= (p.Ala344=) c.317G= c.*782-22212C= (n.*782-22212C=) c.1099G= (p.Ala367=) c.1039G= (p.Ala347=) c.970G= (p.Ala324=) c.889G= (p.Ala297=) c.*1+27579C= (n.*1+27579C=) c.991G= (p.Ala331=) c.922G= (p.Ala308=) n.1478+24053C= | |
9 | g.4576600G>T | CA372818323 | SLC1A1,SPATA6L | c.1030G>T (p.Ala344Ser) c.317G>T c.*782-22212C>A (n.*782-22212C>A) c.1099G>T (p.Ala367Ser) c.1039G>T (p.Ala347Ser) c.970G>T (p.Ala324Ser) c.889G>T (p.Ala297Ser) c.*1+27579C>A (n.*1+27579C>A) c.991G>T (p.Ala331Ser) c.922G>T (p.Ala308Ser) n.1478+24053C>A | |
9 | g.4576601C>A | CA372818324 | SLC1A1,SPATA6L | c.1031C>A (p.Ala344Asp) c.318C>A c.*782-22213G>T (n.*782-22213G>T) c.1100C>A (p.Ala367Asp) c.1040C>A (p.Ala347Asp) c.971C>A (p.Ala324Asp) c.890C>A (p.Ala297Asp) c.*1+27578G>T (n.*1+27578G>T) c.992C>A (p.Ala331Asp) c.923C>A (p.Ala308Asp) n.1478+24052G>T | |
9 | g.4576601C>G | CA372818325 | SLC1A1,SPATA6L | c.1031C>G (p.Ala344Gly) c.318C>G c.*782-22213G>C (n.*782-22213G>C) c.1100C>G (p.Ala367Gly) c.1040C>G (p.Ala347Gly) c.971C>G (p.Ala324Gly) c.890C>G (p.Ala297Gly) c.*1+27578G>C (n.*1+27578G>C) c.992C>G (p.Ala331Gly) c.923C>G (p.Ala308Gly) n.1478+24052G>C | |
9 | g.4576601C>T | CA372818326 | SLC1A1,SPATA6L | c.1031C>T (p.Ala344Val) c.318C>T c.*782-22213G>A (n.*782-22213G>A) c.1100C>T (p.Ala367Val) c.1040C>T (p.Ala347Val) c.971C>T (p.Ala324Val) c.890C>T (p.Ala297Val) c.*1+27578G>A (n.*1+27578G>A) c.992C>T (p.Ala331Val) c.923C>T (p.Ala308Val) n.1478+24052G>A | dbSNP |
9 | g.4576602T>A | CA463728370 | SLC1A1,SPATA6L | c.1032T>A (p.Ala344=) c.319T>A c.*782-22214A>T (n.*782-22214A>T) c.1101T>A (p.Ala367=) c.1041T>A (p.Ala347=) c.972T>A (p.Ala324=) c.891T>A (p.Ala297=) c.*1+27577A>T (n.*1+27577A>T) c.993T>A (p.Ala331=) c.924T>A (p.Ala308=) n.1478+24051A>T | |
9 | g.4576602T>C | CA463728371 | SLC1A1,SPATA6L | c.1032T>C (p.Ala344=) c.319T>C c.*782-22214A>G (n.*782-22214A>G) c.1101T>C (p.Ala367=) c.1041T>C (p.Ala347=) c.972T>C (p.Ala324=) c.891T>C (p.Ala297=) c.*1+27577A>G (n.*1+27577A>G) c.993T>C (p.Ala331=) c.924T>C (p.Ala308=) n.1478+24051A>G | |
9 | g.4576602T>G | CA463728373 | SLC1A1,SPATA6L | c.1032T>G (p.Ala344=) c.319T>G c.*782-22214A>C (n.*782-22214A>C) c.1101T>G (p.Ala367=) c.1041T>G (p.Ala347=) c.972T>G (p.Ala324=) c.891T>G (p.Ala297=) c.*1+27577A>C (n.*1+27577A>C) c.993T>G (p.Ala331=) c.924T>G (p.Ala308=) n.1478+24051A>C | |
9 | g.4576603G>A | CA372818327 | SLC1A1,SPATA6L | c.1033G>A (p.Glu345Lys) c.320G>A c.*782-22215C>T (n.*782-22215C>T) c.1102G>A (p.Glu368Lys) c.1042G>A (p.Glu348Lys) c.973G>A (p.Glu325Lys) c.892G>A (p.Glu298Lys) c.*1+27576C>T (n.*1+27576C>T) c.994G>A (p.Glu332Lys) c.925G>A (p.Glu309Lys) n.1478+24050C>T | gnomAD v4 COSMIC |
9 | g.4576603G>C | CA372818328 | SLC1A1,SPATA6L | c.1033G>C (p.Glu345Gln) c.320G>C c.*782-22215C>G (n.*782-22215C>G) c.1102G>C (p.Glu368Gln) c.1042G>C (p.Glu348Gln) c.973G>C (p.Glu325Gln) c.892G>C (p.Glu298Gln) c.*1+27576C>G (n.*1+27576C>G) c.994G>C (p.Glu332Gln) c.925G>C (p.Glu309Gln) n.1478+24050C>G | |
9 | g.4576603G= | CA1829385466 | SLC1A1,SPATA6L | c.1033G= (p.Glu345=) c.320G= c.*782-22215C= (n.*782-22215C=) c.1102G= (p.Glu368=) c.1042G= (p.Glu348=) c.973G= (p.Glu325=) c.892G= (p.Glu298=) c.*1+27576C= (n.*1+27576C=) c.994G= (p.Glu332=) c.925G= (p.Glu309=) n.1478+24050C= | |
9 | g.4576603G>T | CA372818329 | SLC1A1,SPATA6L | c.1033G>T (p.Glu345Ter) c.320G>T c.*782-22215C>A (n.*782-22215C>A) c.1102G>T (p.Glu368Ter) c.1042G>T (p.Glu348Ter) c.973G>T (p.Glu325Ter) c.892G>T (p.Glu298Ter) c.*1+27576C>A (n.*1+27576C>A) c.994G>T (p.Glu332Ter) c.925G>T (p.Glu309Ter) n.1478+24050C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576604A>C | CA372818330 | SLC1A1,SPATA6L | c.1034A>C (p.Glu345Ala) c.321A>C c.*782-22216T>G (n.*782-22216T>G) c.1103A>C (p.Glu368Ala) c.1043A>C (p.Glu348Ala) c.974A>C (p.Glu325Ala) c.893A>C (p.Glu298Ala) c.*1+27575T>G (n.*1+27575T>G) c.995A>C (p.Glu332Ala) c.926A>C (p.Glu309Ala) n.1478+24049T>G | |
9 | g.4576604A>G | CA372818331 | SLC1A1,SPATA6L | c.1034A>G (p.Glu345Gly) c.321A>G c.*782-22216T>C (n.*782-22216T>C) c.1103A>G (p.Glu368Gly) c.1043A>G (p.Glu348Gly) c.974A>G (p.Glu325Gly) c.893A>G (p.Glu298Gly) c.*1+27575T>C (n.*1+27575T>C) c.995A>G (p.Glu332Gly) c.926A>G (p.Glu309Gly) n.1478+24049T>C | |
9 | g.4576604A>T | CA372818332 | SLC1A1,SPATA6L | c.1034A>T (p.Glu345Val) c.321A>T c.*782-22216T>A (n.*782-22216T>A) c.1103A>T (p.Glu368Val) c.1043A>T (p.Glu348Val) c.974A>T (p.Glu325Val) c.893A>T (p.Glu298Val) c.*1+27575T>A (n.*1+27575T>A) c.995A>T (p.Glu332Val) c.926A>T (p.Glu309Val) n.1478+24049T>A | |
9 | g.4576605A>C | CA372818333 | SLC1A1,SPATA6L | c.1035A>C (p.Glu345Asp) c.322A>C c.*782-22217T>G (n.*782-22217T>G) c.1104A>C (p.Glu368Asp) c.1044A>C (p.Glu348Asp) c.975A>C (p.Glu325Asp) c.894A>C (p.Glu298Asp) c.*1+27574T>G (n.*1+27574T>G) c.996A>C (p.Glu332Asp) c.927A>C (p.Glu309Asp) n.1478+24048T>G | |
9 | g.4576605A>G | CA463728384 | SLC1A1,SPATA6L | c.1035A>G (p.Glu345=) c.322A>G c.*782-22217T>C (n.*782-22217T>C) c.1104A>G (p.Glu368=) c.1044A>G (p.Glu348=) c.975A>G (p.Glu325=) c.894A>G (p.Glu298=) c.*1+27574T>C (n.*1+27574T>C) c.996A>G (p.Glu332=) c.927A>G (p.Glu309=) n.1478+24048T>C | |
9 | g.4576605A>T | CA372818334 | SLC1A1,SPATA6L | c.1035A>T (p.Glu345Asp) c.322A>T c.*782-22217T>A (n.*782-22217T>A) c.1104A>T (p.Glu368Asp) c.1044A>T (p.Glu348Asp) c.975A>T (p.Glu325Asp) c.894A>T (p.Glu298Asp) c.*1+27574T>A (n.*1+27574T>A) c.996A>T (p.Glu332Asp) c.927A>T (p.Glu309Asp) n.1478+24048T>A | |
9 | g.4576606G>A | CA372818335 | SLC1A1,SPATA6L | c.1036G>A (p.Glu346Lys) c.323G>A c.*782-22218C>T (n.*782-22218C>T) c.1105G>A (p.Glu369Lys) c.1045G>A (p.Glu349Lys) c.976G>A (p.Glu326Lys) c.895G>A (p.Glu299Lys) c.*1+27573C>T (n.*1+27573C>T) c.997G>A (p.Glu333Lys) c.928G>A (p.Glu310Lys) n.1478+24047C>T | gnomAD v4 |
9 | g.4576606G>C | CA188358943 | SLC1A1,SPATA6L | c.1036G>C (p.Glu346Gln) c.323G>C c.*782-22218C>G (n.*782-22218C>G) c.1105G>C (p.Glu369Gln) c.1045G>C (p.Glu349Gln) c.976G>C (p.Glu326Gln) c.895G>C (p.Glu299Gln) c.*1+27573C>G (n.*1+27573C>G) c.997G>C (p.Glu333Gln) c.928G>C (p.Glu310Gln) n.1478+24047C>G | dbSNP gnomAD v4 |
9 | g.4576606G= | CA1829385467 | SLC1A1,SPATA6L | c.1036G= (p.Glu346=) c.323G= c.*782-22218C= (n.*782-22218C=) c.1105G= (p.Glu369=) c.1045G= (p.Glu349=) c.976G= (p.Glu326=) c.895G= (p.Glu299=) c.*1+27573C= (n.*1+27573C=) c.997G= (p.Glu333=) c.928G= (p.Glu310=) n.1478+24047C= | |
9 | g.4576606G>T | CA372818336 | SLC1A1,SPATA6L | c.1036G>T (p.Glu346Ter) c.323G>T c.*782-22218C>A (n.*782-22218C>A) c.1105G>T (p.Glu369Ter) c.1045G>T (p.Glu349Ter) c.976G>T (p.Glu326Ter) c.895G>T (p.Glu299Ter) c.*1+27573C>A (n.*1+27573C>A) c.997G>T (p.Glu333Ter) c.928G>T (p.Glu310Ter) n.1478+24047C>A | |
9 | g.4576607A>C | CA372818337 | SLC1A1,SPATA6L | c.1037A>C (p.Glu346Ala) c.324A>C c.*782-22219T>G (n.*782-22219T>G) c.1106A>C (p.Glu369Ala) c.1046A>C (p.Glu349Ala) c.977A>C (p.Glu326Ala) c.896A>C (p.Glu299Ala) c.*1+27572T>G (n.*1+27572T>G) c.998A>C (p.Glu333Ala) c.929A>C (p.Glu310Ala) n.1478+24046T>G | |
9 | g.4576607A>G | CA372818338 | SLC1A1,SPATA6L | c.1037A>G (p.Glu346Gly) c.324A>G c.*782-22219T>C (n.*782-22219T>C) c.1106A>G (p.Glu369Gly) c.1046A>G (p.Glu349Gly) c.977A>G (p.Glu326Gly) c.896A>G (p.Glu299Gly) c.*1+27572T>C (n.*1+27572T>C) c.998A>G (p.Glu333Gly) c.929A>G (p.Glu310Gly) n.1478+24046T>C | |
9 | g.4576607A>T | CA372818339 | SLC1A1,SPATA6L | c.1037A>T (p.Glu346Val) c.324A>T c.*782-22219T>A (n.*782-22219T>A) c.1106A>T (p.Glu369Val) c.1046A>T (p.Glu349Val) c.977A>T (p.Glu326Val) c.896A>T (p.Glu299Val) c.*1+27572T>A (n.*1+27572T>A) c.998A>T (p.Glu333Val) c.929A>T (p.Glu310Val) n.1478+24046T>A | |
9 | g.4576610del | CA2689285193 | SLC1A1,SPATA6L | c.1040del (p.Asn347IlefsTer?) c.327del c.*782-22219del (n.*782-22219del) c.1109del (p.Asn370IlefsTer?) c.1049del (p.Asn350IlefsTer?) c.980del (p.Asn327IlefsTer?) c.899del (p.Asn300IlefsTer?) c.*1+27572del (n.*1+27572del) c.1001del (p.Asn334IlefsTer?) c.932del (p.Asn311IlefsTer?) n.1478+24046del | gnomAD v4 |
9 | g.4576608A>C | CA372818340 | SLC1A1,SPATA6L | c.1038A>C (p.Glu346Asp) c.325A>C c.*782-22220T>G (n.*782-22220T>G) c.1107A>C (p.Glu369Asp) c.1047A>C (p.Glu349Asp) c.978A>C (p.Glu326Asp) c.897A>C (p.Glu299Asp) c.*1+27571T>G (n.*1+27571T>G) c.999A>C (p.Glu333Asp) c.930A>C (p.Glu310Asp) n.1478+24045T>G | |
9 | g.4576608A>G | CA463728395 | SLC1A1,SPATA6L | c.1038A>G (p.Glu346=) c.325A>G c.*782-22220T>C (n.*782-22220T>C) c.1107A>G (p.Glu369=) c.1047A>G (p.Glu349=) c.978A>G (p.Glu326=) c.897A>G (p.Glu299=) c.*1+27571T>C (n.*1+27571T>C) c.999A>G (p.Glu333=) c.930A>G (p.Glu310=) n.1478+24045T>C | |
9 | g.4576608A>T | CA372818341 | SLC1A1,SPATA6L | c.1038A>T (p.Glu346Asp) c.325A>T c.*782-22220T>A (n.*782-22220T>A) c.1107A>T (p.Glu369Asp) c.1047A>T (p.Glu349Asp) c.978A>T (p.Glu326Asp) c.897A>T (p.Glu299Asp) c.*1+27571T>A (n.*1+27571T>A) c.999A>T (p.Glu333Asp) c.930A>T (p.Glu310Asp) n.1478+24045T>A | |
9 | g.4576609A>C | CA372818342 | SLC1A1,SPATA6L | c.1039A>C (p.Asn347His) c.326A>C c.*782-22221T>G (n.*782-22221T>G) c.1108A>C (p.Asn370His) c.1048A>C (p.Asn350His) c.979A>C (p.Asn327His) c.898A>C (p.Asn300His) c.*1+27570T>G (n.*1+27570T>G) c.1000A>C (p.Asn334His) c.931A>C (p.Asn311His) n.1478+24044T>G | |
9 | g.4576609A>G | CA372818343 | SLC1A1,SPATA6L | c.1039A>G (p.Asn347Asp) c.326A>G c.*782-22221T>C (n.*782-22221T>C) c.1108A>G (p.Asn370Asp) c.1048A>G (p.Asn350Asp) c.979A>G (p.Asn327Asp) c.898A>G (p.Asn300Asp) c.*1+27570T>C (n.*1+27570T>C) c.1000A>G (p.Asn334Asp) c.931A>G (p.Asn311Asp) n.1478+24044T>C | |
9 | g.4576609A>T | CA372818344 | SLC1A1,SPATA6L | c.1039A>T (p.Asn347Tyr) c.326A>T c.*782-22221T>A (n.*782-22221T>A) c.1108A>T (p.Asn370Tyr) c.1048A>T (p.Asn350Tyr) c.979A>T (p.Asn327Tyr) c.898A>T (p.Asn300Tyr) c.*1+27570T>A (n.*1+27570T>A) c.1000A>T (p.Asn334Tyr) c.931A>T (p.Asn311Tyr) n.1478+24044T>A | |
9 | g.4576610A>C | CA372818346 | SLC1A1,SPATA6L | c.1040A>C (p.Asn347Thr) c.327A>C c.*782-22222T>G (n.*782-22222T>G) c.1109A>C (p.Asn370Thr) c.1049A>C (p.Asn350Thr) c.980A>C (p.Asn327Thr) c.899A>C (p.Asn300Thr) c.*1+27569T>G (n.*1+27569T>G) c.1001A>C (p.Asn334Thr) c.932A>C (p.Asn311Thr) n.1478+24043T>G | |
9 | g.4576610A>G | CA372818347 | SLC1A1,SPATA6L | c.1040A>G (p.Asn347Ser) c.327A>G c.*782-22222T>C (n.*782-22222T>C) c.1109A>G (p.Asn370Ser) c.1049A>G (p.Asn350Ser) c.980A>G (p.Asn327Ser) c.899A>G (p.Asn300Ser) c.*1+27569T>C (n.*1+27569T>C) c.1001A>G (p.Asn334Ser) c.932A>G (p.Asn311Ser) n.1478+24043T>C | |
9 | g.4576610A>T | CA372818345 | SLC1A1,SPATA6L | c.1040A>T (p.Asn347Ile) c.327A>T c.*782-22222T>A (n.*782-22222T>A) c.1109A>T (p.Asn370Ile) c.1049A>T (p.Asn350Ile) c.980A>T (p.Asn327Ile) c.899A>T (p.Asn300Ile) c.*1+27569T>A (n.*1+27569T>A) c.1001A>T (p.Asn334Ile) c.932A>T (p.Asn311Ile) n.1478+24043T>A | |
9 | g.4576611T>A | CA372818348 | SLC1A1,SPATA6L | c.1041T>A (p.Asn347Lys) c.328T>A c.*782-22223A>T (n.*782-22223A>T) c.1110T>A (p.Asn370Lys) c.1050T>A (p.Asn350Lys) c.981T>A (p.Asn327Lys) c.900T>A (p.Asn300Lys) c.*1+27568A>T (n.*1+27568A>T) c.1002T>A (p.Asn334Lys) c.933T>A (p.Asn311Lys) n.1478+24042A>T | gnomAD v4 |
9 | g.4576611T>C | CA463728407 | SLC1A1,SPATA6L | c.1041T>C (p.Asn347=) c.328T>C c.*782-22223A>G (n.*782-22223A>G) c.1110T>C (p.Asn370=) c.1050T>C (p.Asn350=) c.981T>C (p.Asn327=) c.900T>C (p.Asn300=) c.*1+27568A>G (n.*1+27568A>G) c.1002T>C (p.Asn334=) c.933T>C (p.Asn311=) n.1478+24042A>G | |
9 | g.4576611T>G | CA372818349 | SLC1A1,SPATA6L | c.1041T>G (p.Asn347Lys) c.328T>G c.*782-22223A>C (n.*782-22223A>C) c.1110T>G (p.Asn370Lys) c.1050T>G (p.Asn350Lys) c.981T>G (p.Asn327Lys) c.900T>G (p.Asn300Lys) c.*1+27568A>C (n.*1+27568A>C) c.1002T>G (p.Asn334Lys) c.933T>G (p.Asn311Lys) n.1478+24042A>C | |
9 | g.4576612A>C | CA372818350 | SLC1A1,SPATA6L | c.1042A>C (p.Asn348His) c.329A>C c.*782-22224T>G (n.*782-22224T>G) c.1111A>C (p.Asn371His) c.1051A>C (p.Asn351His) c.982A>C (p.Asn328His) c.901A>C (p.Asn301His) c.*1+27567T>G (n.*1+27567T>G) c.1003A>C (p.Asn335His) c.934A>C (p.Asn312His) n.1478+24041T>G | |
9 | g.4576612A>G | CA372818351 | SLC1A1,SPATA6L | c.1042A>G (p.Asn348Asp) c.329A>G c.*782-22224T>C (n.*782-22224T>C) c.1111A>G (p.Asn371Asp) c.1051A>G (p.Asn351Asp) c.982A>G (p.Asn328Asp) c.901A>G (p.Asn301Asp) c.*1+27567T>C (n.*1+27567T>C) c.1003A>G (p.Asn335Asp) c.934A>G (p.Asn312Asp) n.1478+24041T>C | |
9 | g.4576612A>T | CA372818352 | SLC1A1,SPATA6L | c.1042A>T (p.Asn348Tyr) c.329A>T c.*782-22224T>A (n.*782-22224T>A) c.1111A>T (p.Asn371Tyr) c.1051A>T (p.Asn351Tyr) c.982A>T (p.Asn328Tyr) c.901A>T (p.Asn301Tyr) c.*1+27567T>A (n.*1+27567T>A) c.1003A>T (p.Asn335Tyr) c.934A>T (p.Asn312Tyr) n.1478+24041T>A | |
9 | g.4576613A= | CA1829385468 | SLC1A1,SPATA6L | c.1043A= (p.Asn348=) c.330A= c.*782-22225T= (n.*782-22225T=) c.1112A= (p.Asn371=) c.1052A= (p.Asn351=) c.983A= (p.Asn328=) c.902A= (p.Asn301=) c.*1+27566T= (n.*1+27566T=) c.1004A= (p.Asn335=) c.935A= (p.Asn312=) n.1478+24040T= | |
9 | g.4576613A>C | CA372818355 | SLC1A1,SPATA6L | c.1043A>C (p.Asn348Thr) c.330A>C c.*782-22225T>G (n.*782-22225T>G) c.1112A>C (p.Asn371Thr) c.1052A>C (p.Asn351Thr) c.983A>C (p.Asn328Thr) c.902A>C (p.Asn301Thr) c.*1+27566T>G (n.*1+27566T>G) c.1004A>C (p.Asn335Thr) c.935A>C (p.Asn312Thr) n.1478+24040T>G | dbSNP |
9 | g.4576613A>G | CA372818353 | SLC1A1,SPATA6L | c.1043A>G (p.Asn348Ser) c.330A>G c.*782-22225T>C (n.*782-22225T>C) c.1112A>G (p.Asn371Ser) c.1052A>G (p.Asn351Ser) c.983A>G (p.Asn328Ser) c.902A>G (p.Asn301Ser) c.*1+27566T>C (n.*1+27566T>C) c.1004A>G (p.Asn335Ser) c.935A>G (p.Asn312Ser) n.1478+24040T>C | |
9 | g.4576613A>T | CA372818354 | SLC1A1,SPATA6L | c.1043A>T (p.Asn348Ile) c.330A>T c.*782-22225T>A (n.*782-22225T>A) c.1112A>T (p.Asn371Ile) c.1052A>T (p.Asn351Ile) c.983A>T (p.Asn328Ile) c.902A>T (p.Asn301Ile) c.*1+27566T>A (n.*1+27566T>A) c.1004A>T (p.Asn335Ile) c.935A>T (p.Asn312Ile) n.1478+24040T>A | |
9 | g.4576614C>A | CA372818356 | SLC1A1,SPATA6L | c.1044C>A (p.Asn348Lys) c.331C>A c.*782-22226G>T (n.*782-22226G>T) c.1113C>A (p.Asn371Lys) c.1053C>A (p.Asn351Lys) c.984C>A (p.Asn328Lys) c.903C>A (p.Asn301Lys) c.*1+27565G>T (n.*1+27565G>T) c.1005C>A (p.Asn335Lys) c.936C>A (p.Asn312Lys) n.1478+24039G>T | |
9 | g.4576614C>G | CA372818357 | SLC1A1,SPATA6L | c.1044C>G (p.Asn348Lys) c.331C>G c.*782-22226G>C (n.*782-22226G>C) c.1113C>G (p.Asn371Lys) c.1053C>G (p.Asn351Lys) c.984C>G (p.Asn328Lys) c.903C>G (p.Asn301Lys) c.*1+27565G>C (n.*1+27565G>C) c.1005C>G (p.Asn335Lys) c.936C>G (p.Asn312Lys) n.1478+24039G>C | gnomAD v4 COSMIC |
9 | g.4576614C>T | CA463728417 | SLC1A1,SPATA6L | c.1044C>T (p.Asn348=) c.331C>T c.*782-22226G>A (n.*782-22226G>A) c.1113C>T (p.Asn371=) c.1053C>T (p.Asn351=) c.984C>T (p.Asn328=) c.903C>T (p.Asn301=) c.*1+27565G>A (n.*1+27565G>A) c.1005C>T (p.Asn335=) c.936C>T (p.Asn312=) n.1478+24039G>A | gnomAD v4 |
9 | g.4576615C>A | CA372818358 | SLC1A1,SPATA6L | c.1045C>A (p.Gln349Lys) c.332C>A c.*782-22227G>T (n.*782-22227G>T) c.1114C>A (p.Gln372Lys) c.1054C>A (p.Gln352Lys) c.985C>A (p.Gln329Lys) c.904C>A (p.Gln302Lys) c.*1+27564G>T (n.*1+27564G>T) c.1006C>A (p.Gln336Lys) c.937C>A (p.Gln313Lys) n.1478+24038G>T | |
9 | g.4576615C>G | CA372818359 | SLC1A1,SPATA6L | c.1045C>G (p.Gln349Glu) c.332C>G c.*782-22227G>C (n.*782-22227G>C) c.1114C>G (p.Gln372Glu) c.1054C>G (p.Gln352Glu) c.985C>G (p.Gln329Glu) c.904C>G (p.Gln302Glu) c.*1+27564G>C (n.*1+27564G>C) c.1006C>G (p.Gln336Glu) c.937C>G (p.Gln313Glu) n.1478+24038G>C | |
9 | g.4576615C>T | CA372818360 | SLC1A1,SPATA6L | c.1045C>T (p.Gln349Ter) c.332C>T c.*782-22227G>A (n.*782-22227G>A) c.1114C>T (p.Gln372Ter) c.1054C>T (p.Gln352Ter) c.985C>T (p.Gln329Ter) c.904C>T (p.Gln302Ter) c.*1+27564G>A (n.*1+27564G>A) c.1006C>T (p.Gln336Ter) c.937C>T (p.Gln313Ter) n.1478+24038G>A | gnomAD v4 COSMIC |
9 | g.4576616A>C | CA372818361 | SLC1A1,SPATA6L | c.1046A>C (p.Gln349Pro) c.333A>C c.*782-22228T>G (n.*782-22228T>G) c.1115A>C (p.Gln372Pro) c.1055A>C (p.Gln352Pro) c.986A>C (p.Gln329Pro) c.905A>C (p.Gln302Pro) c.*1+27563T>G (n.*1+27563T>G) c.1007A>C (p.Gln336Pro) c.938A>C (p.Gln313Pro) n.1478+24037T>G | |
9 | g.4576616A>G | CA372818363 | SLC1A1,SPATA6L | c.1046A>G (p.Gln349Arg) c.333A>G c.*782-22228T>C (n.*782-22228T>C) c.1115A>G (p.Gln372Arg) c.1055A>G (p.Gln352Arg) c.986A>G (p.Gln329Arg) c.905A>G (p.Gln302Arg) c.*1+27563T>C (n.*1+27563T>C) c.1007A>G (p.Gln336Arg) c.938A>G (p.Gln313Arg) n.1478+24037T>C | |
9 | g.4576616A>T | CA372818362 | SLC1A1,SPATA6L | c.1046A>T (p.Gln349Leu) c.333A>T c.*782-22228T>A (n.*782-22228T>A) c.1115A>T (p.Gln372Leu) c.1055A>T (p.Gln352Leu) c.986A>T (p.Gln329Leu) c.905A>T (p.Gln302Leu) c.*1+27563T>A (n.*1+27563T>A) c.1007A>T (p.Gln336Leu) c.938A>T (p.Gln313Leu) n.1478+24037T>A | |
9 | g.4576617G>A | CA188358955 | SLC1A1,SPATA6L | c.1047G>A (p.Gln349=) c.334G>A c.*782-22229C>T (n.*782-22229C>T) c.1116G>A (p.Gln372=) c.1056G>A (p.Gln352=) c.987G>A (p.Gln329=) c.906G>A (p.Gln302=) c.*1+27562C>T (n.*1+27562C>T) c.1008G>A (p.Gln336=) c.939G>A (p.Gln313=) n.1478+24036C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576617G>C | CA372818364 | SLC1A1,SPATA6L | c.1047G>C (p.Gln349His) c.334G>C c.*782-22229C>G (n.*782-22229C>G) c.1116G>C (p.Gln372His) c.1056G>C (p.Gln352His) c.987G>C (p.Gln329His) c.906G>C (p.Gln302His) c.*1+27562C>G (n.*1+27562C>G) c.1008G>C (p.Gln336His) c.939G>C (p.Gln313His) n.1478+24036C>G | |
9 | g.4576617G= | CA1829385469 | SLC1A1,SPATA6L | c.1047G= (p.Gln349=) c.334G= c.*782-22229C= (n.*782-22229C=) c.1116G= (p.Gln372=) c.1056G= (p.Gln352=) c.987G= (p.Gln329=) c.906G= (p.Gln302=) c.*1+27562C= (n.*1+27562C=) c.1008G= (p.Gln336=) c.939G= (p.Gln313=) n.1478+24036C= | |
9 | g.4576617G>T | CA372818365 | SLC1A1,SPATA6L | c.1047G>T (p.Gln349His) c.334G>T c.*782-22229C>A (n.*782-22229C>A) c.1116G>T (p.Gln372His) c.1056G>T (p.Gln352His) c.987G>T (p.Gln329His) c.906G>T (p.Gln302His) c.*1+27562C>A (n.*1+27562C>A) c.1008G>T (p.Gln336His) c.939G>T (p.Gln313His) n.1478+24036C>A | |
9 | g.4576618G>A | CA372818366 | SLC1A1,SPATA6L | c.1048G>A (p.Val350Met) c.335G>A c.*782-22230C>T (n.*782-22230C>T) c.1117G>A (p.Val373Met) c.1057G>A (p.Val353Met) c.988G>A (p.Val330Met) c.907G>A (p.Val303Met) c.*1+27561C>T (n.*1+27561C>T) c.1009G>A (p.Val337Met) c.940G>A (p.Val314Met) n.1478+24035C>T | gnomAD v4 |
9 | g.4576618G>C | CA372818367 | SLC1A1,SPATA6L | c.1048G>C (p.Val350Leu) c.335G>C c.*782-22230C>G (n.*782-22230C>G) c.1117G>C (p.Val373Leu) c.1057G>C (p.Val353Leu) c.988G>C (p.Val330Leu) c.907G>C (p.Val303Leu) c.*1+27561C>G (n.*1+27561C>G) c.1009G>C (p.Val337Leu) c.940G>C (p.Val314Leu) n.1478+24035C>G | |
9 | g.4576618G>T | CA372818368 | SLC1A1,SPATA6L | c.1048G>T (p.Val350Leu) c.335G>T c.*782-22230C>A (n.*782-22230C>A) c.1117G>T (p.Val373Leu) c.1057G>T (p.Val353Leu) c.988G>T (p.Val330Leu) c.907G>T (p.Val303Leu) c.*1+27561C>A (n.*1+27561C>A) c.1009G>T (p.Val337Leu) c.940G>T (p.Val314Leu) n.1478+24035C>A | |
9 | g.4576619T>A | CA372818369 | SLC1A1,SPATA6L | c.1049T>A (p.Val350Glu) c.336T>A c.*782-22231A>T (n.*782-22231A>T) c.1118T>A (p.Val373Glu) c.1058T>A (p.Val353Glu) c.989T>A (p.Val330Glu) c.908T>A (p.Val303Glu) c.*1+27560A>T (n.*1+27560A>T) c.1010T>A (p.Val337Glu) c.941T>A (p.Val314Glu) n.1478+24034A>T | |
9 | g.4576619T>C | CA372818370 | SLC1A1,SPATA6L | c.1049T>C (p.Val350Ala) c.336T>C c.*782-22231A>G (n.*782-22231A>G) c.1118T>C (p.Val373Ala) c.1058T>C (p.Val353Ala) c.989T>C (p.Val330Ala) c.908T>C (p.Val303Ala) c.*1+27560A>G (n.*1+27560A>G) c.1010T>C (p.Val337Ala) c.941T>C (p.Val314Ala) n.1478+24034A>G | |
9 | g.4576619T>G | CA372818371 | SLC1A1,SPATA6L | c.1049T>G (p.Val350Gly) c.336T>G c.*782-22231A>C (n.*782-22231A>C) c.1118T>G (p.Val373Gly) c.1058T>G (p.Val353Gly) c.989T>G (p.Val330Gly) c.908T>G (p.Val303Gly) c.*1+27560A>C (n.*1+27560A>C) c.1010T>G (p.Val337Gly) c.941T>G (p.Val314Gly) n.1478+24034A>C | |
9 | g.4576620G>A | CA463728440 | SLC1A1,SPATA6L | c.1050G>A (p.Val350=) c.337G>A c.*782-22232C>T (n.*782-22232C>T) c.1119G>A (p.Val373=) c.1059G>A (p.Val353=) c.990G>A (p.Val330=) c.909G>A (p.Val303=) c.*1+27559C>T (n.*1+27559C>T) c.1011G>A (p.Val337=) c.942G>A (p.Val314=) n.1478+24033C>T | gnomAD v4 |
9 | g.4576620G>C | CA463728436 | SLC1A1,SPATA6L | c.1050G>C (p.Val350=) c.337G>C c.*782-22232C>G (n.*782-22232C>G) c.1119G>C (p.Val373=) c.1059G>C (p.Val353=) c.990G>C (p.Val330=) c.909G>C (p.Val303=) c.*1+27559C>G (n.*1+27559C>G) c.1011G>C (p.Val337=) c.942G>C (p.Val314=) n.1478+24033C>G | |
9 | g.4576620G>T | CA463728438 | SLC1A1,SPATA6L | c.1050G>T (p.Val350=) c.337G>T c.*782-22232C>A (n.*782-22232C>A) c.1119G>T (p.Val373=) c.1059G>T (p.Val353=) c.990G>T (p.Val330=) c.909G>T (p.Val303=) c.*1+27559C>A (n.*1+27559C>A) c.1011G>T (p.Val337=) c.942G>T (p.Val314=) n.1478+24033C>A | |
9 | g.4576621G>A | CA372818372 | SLC1A1,SPATA6L | c.1051G>A (p.Asp351Asn) c.338G>A c.*782-22233C>T (n.*782-22233C>T) c.1120G>A (p.Asp374Asn) c.1060G>A (p.Asp354Asn) c.991G>A (p.Asp331Asn) c.910G>A (p.Asp304Asn) c.*1+27558C>T (n.*1+27558C>T) c.1012G>A (p.Asp338Asn) c.943G>A (p.Asp315Asn) n.1478+24032C>T | gnomAD v4 COSMIC |
9 | g.4576621G>C | CA372818373 | SLC1A1,SPATA6L | c.1051G>C (p.Asp351His) c.338G>C c.*782-22233C>G (n.*782-22233C>G) c.1120G>C (p.Asp374His) c.1060G>C (p.Asp354His) c.991G>C (p.Asp331His) c.910G>C (p.Asp304His) c.*1+27558C>G (n.*1+27558C>G) c.1012G>C (p.Asp338His) c.943G>C (p.Asp315His) n.1478+24032C>G | dbSNP |
9 | g.4576621G= | CA1829385470 | SLC1A1,SPATA6L | c.1051G= (p.Asp351=) c.338G= c.*782-22233C= (n.*782-22233C=) c.1120G= (p.Asp374=) c.1060G= (p.Asp354=) c.991G= (p.Asp331=) c.910G= (p.Asp304=) c.*1+27558C= (n.*1+27558C=) c.1012G= (p.Asp338=) c.943G= (p.Asp315=) n.1478+24032C= | |
9 | g.4576621G>T | CA372818374 | SLC1A1,SPATA6L | c.1051G>T (p.Asp351Tyr) c.338G>T c.*782-22233C>A (n.*782-22233C>A) c.1120G>T (p.Asp374Tyr) c.1060G>T (p.Asp354Tyr) c.991G>T (p.Asp331Tyr) c.910G>T (p.Asp304Tyr) c.*1+27558C>A (n.*1+27558C>A) c.1012G>T (p.Asp338Tyr) c.943G>T (p.Asp315Tyr) n.1478+24032C>A | |
9 | g.4576622A>C | CA372818377 | SLC1A1,SPATA6L | c.1052A>C (p.Asp351Ala) c.339A>C c.*782-22234T>G (n.*782-22234T>G) c.1121A>C (p.Asp374Ala) c.1061A>C (p.Asp354Ala) c.992A>C (p.Asp331Ala) c.911A>C (p.Asp304Ala) c.*1+27557T>G (n.*1+27557T>G) c.1013A>C (p.Asp338Ala) c.944A>C (p.Asp315Ala) n.1478+24031T>G | |
9 | g.4576622A>G | CA372818376 | SLC1A1,SPATA6L | c.1052A>G (p.Asp351Gly) c.339A>G c.*782-22234T>C (n.*782-22234T>C) c.1121A>G (p.Asp374Gly) c.1061A>G (p.Asp354Gly) c.992A>G (p.Asp331Gly) c.911A>G (p.Asp304Gly) c.*1+27557T>C (n.*1+27557T>C) c.1013A>G (p.Asp338Gly) c.944A>G (p.Asp315Gly) n.1478+24031T>C | gnomAD v4 |
9 | g.4576622A>T | CA372818375 | SLC1A1,SPATA6L | c.1052A>T (p.Asp351Val) c.339A>T c.*782-22234T>A (n.*782-22234T>A) c.1121A>T (p.Asp374Val) c.1061A>T (p.Asp354Val) c.992A>T (p.Asp331Val) c.911A>T (p.Asp304Val) c.*1+27557T>A (n.*1+27557T>A) c.1013A>T (p.Asp338Val) c.944A>T (p.Asp315Val) n.1478+24031T>A | |
9 | g.4576623C>A | CA372818378 | SLC1A1,SPATA6L | c.1053C>A (p.Asp351Glu) c.340C>A c.*782-22235G>T (n.*782-22235G>T) c.1122C>A (p.Asp374Glu) c.1062C>A (p.Asp354Glu) c.993C>A (p.Asp331Glu) c.912C>A (p.Asp304Glu) c.*1+27556G>T (n.*1+27556G>T) c.1014C>A (p.Asp338Glu) c.945C>A (p.Asp315Glu) n.1478+24030G>T | |
9 | g.4576623C= | CA1829385471 | SLC1A1,SPATA6L | c.1053C= (p.Asp351=) c.340C= c.*782-22235G= (n.*782-22235G=) c.1122C= (p.Asp374=) c.1062C= (p.Asp354=) c.993C= (p.Asp331=) c.912C= (p.Asp304=) c.*1+27556G= (n.*1+27556G=) c.1014C= (p.Asp338=) c.945C= (p.Asp315=) n.1478+24030G= | |
9 | g.4576623C>G | CA372818379 | SLC1A1,SPATA6L | c.1053C>G (p.Asp351Glu) c.340C>G c.*782-22235G>C (n.*782-22235G>C) c.1122C>G (p.Asp374Glu) c.1062C>G (p.Asp354Glu) c.993C>G (p.Asp331Glu) c.912C>G (p.Asp304Glu) c.*1+27556G>C (n.*1+27556G>C) c.1014C>G (p.Asp338Glu) c.945C>G (p.Asp315Glu) n.1478+24030G>C | |
9 | g.4576623C>T | CA463728455 | SLC1A1,SPATA6L | c.1053C>T (p.Asp351=) c.340C>T c.*782-22235G>A (n.*782-22235G>A) c.1122C>T (p.Asp374=) c.1062C>T (p.Asp354=) c.993C>T (p.Asp331=) c.912C>T (p.Asp304=) c.*1+27556G>A (n.*1+27556G>A) c.1014C>T (p.Asp338=) c.945C>T (p.Asp315=) n.1478+24030G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.4576624A>C | CA372818380 | SLC1A1,SPATA6L | c.1054A>C (p.Lys352Gln) c.341A>C c.*782-22236T>G (n.*782-22236T>G) c.1123A>C (p.Lys375Gln) c.1063A>C (p.Lys355Gln) c.994A>C (p.Lys332Gln) c.913A>C (p.Lys305Gln) c.*1+27555T>G (n.*1+27555T>G) c.1015A>C (p.Lys339Gln) c.946A>C (p.Lys316Gln) n.1478+24029T>G | |
9 | g.4576624A>G | CA372818381 | SLC1A1,SPATA6L | c.1054A>G (p.Lys352Glu) c.341A>G c.*782-22236T>C (n.*782-22236T>C) c.1123A>G (p.Lys375Glu) c.1063A>G (p.Lys355Glu) c.994A>G (p.Lys332Glu) c.913A>G (p.Lys305Glu) c.*1+27555T>C (n.*1+27555T>C) c.1015A>G (p.Lys339Glu) c.946A>G (p.Lys316Glu) n.1478+24029T>C | |
9 | g.4576624A>T | CA372818382 | SLC1A1,SPATA6L | c.1054A>T (p.Lys352Ter) c.341A>T c.*782-22236T>A (n.*782-22236T>A) c.1123A>T (p.Lys375Ter) c.1063A>T (p.Lys355Ter) c.994A>T (p.Lys332Ter) c.913A>T (p.Lys305Ter) c.*1+27555T>A (n.*1+27555T>A) c.1015A>T (p.Lys339Ter) c.946A>T (p.Lys316Ter) n.1478+24029T>A | |
9 | g.4576624_4576625insTAAACCAGGGACATAAACC | CA2689285194 | SLC1A1,SPATA6L | c.1054_1055insTAAACCAGGGACATAAACC (p.Lys352IlefsTer29) c.341_342insTAAACCAGGGACATAAACC c.*782-22237_*782-22236insGGTTTATGTCCCTGGTTTA (n.*782-22237_*782-22236insGGTTTATGTCCCTGGTTTA) c.1123_1124insTAAACCAGGGACATAAACC (p.Lys375IlefsTer29) c.1063_1064insTAAACCAGGGACATAAACC (p.Lys355IlefsTer29) c.994_995insTAAACCAGGGACATAAACC (p.Lys332IlefsTer29) c.913_914insTAAACCAGGGACATAAACC (p.Lys305IlefsTer29) c.*1+27554_*1+27555insGGTTTATGTCCCTGGTTTA (n.*1+27554_*1+27555insGGTTTATGTCCCTGGTTTA) c.1015_1016insTAAACCAGGGACATAAACC (p.Lys339IlefsTer29) c.946_947insTAAACCAGGGACATAAACC (p.Lys316IlefsTer29) n.1478+24028_1478+24029insGGTTTATGTCCCTGGTTTA | gnomAD v4 |
9 | g.4576625A= | CA1829385472 | SLC1A1,SPATA6L | c.1055A= (p.Lys352=) c.342A= c.*782-22237T= (n.*782-22237T=) c.1124A= (p.Lys375=) c.1064A= (p.Lys355=) c.995A= (p.Lys332=) c.914A= (p.Lys305=) c.*1+27554T= (n.*1+27554T=) c.1016A= (p.Lys339=) c.947A= (p.Lys316=) n.1478+24028T= | |
9 | g.4576625A>C | CA372818383 | SLC1A1,SPATA6L | c.1055A>C (p.Lys352Thr) c.342A>C c.*782-22237T>G (n.*782-22237T>G) c.1124A>C (p.Lys375Thr) c.1064A>C (p.Lys355Thr) c.995A>C (p.Lys332Thr) c.914A>C (p.Lys305Thr) c.*1+27554T>G (n.*1+27554T>G) c.1016A>C (p.Lys339Thr) c.947A>C (p.Lys316Thr) n.1478+24028T>G | |
9 | g.4576625A>G | CA372818384 | SLC1A1,SPATA6L | c.1055A>G (p.Lys352Arg) c.342A>G c.*782-22237T>C (n.*782-22237T>C) c.1124A>G (p.Lys375Arg) c.1064A>G (p.Lys355Arg) c.995A>G (p.Lys332Arg) c.914A>G (p.Lys305Arg) c.*1+27554T>C (n.*1+27554T>C) c.1016A>G (p.Lys339Arg) c.947A>G (p.Lys316Arg) n.1478+24028T>C | |
9 | g.4576625A>T | CA4969217 | SLC1A1,SPATA6L | c.1055A>T (p.Lys352Met) c.342A>T c.*782-22237T>A (n.*782-22237T>A) c.1124A>T (p.Lys375Met) c.1064A>T (p.Lys355Met) c.995A>T (p.Lys332Met) c.914A>T (p.Lys305Met) c.*1+27554T>A (n.*1+27554T>A) c.1016A>T (p.Lys339Met) c.947A>T (p.Lys316Met) n.1478+24028T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576626G>A | CA463728467 | SLC1A1,SPATA6L | c.1056G>A (p.Lys352=) c.343G>A c.*782-22238C>T (n.*782-22238C>T) c.1125G>A (p.Lys375=) c.1065G>A (p.Lys355=) c.996G>A (p.Lys332=) c.915G>A (p.Lys305=) c.*1+27553C>T (n.*1+27553C>T) c.1017G>A (p.Lys339=) c.948G>A (p.Lys316=) n.1478+24027C>T | |
9 | g.4576626G>C | CA188358957 | SLC1A1,SPATA6L | c.1056G>C (p.Lys352Asn) c.343G>C c.*782-22238C>G (n.*782-22238C>G) c.1125G>C (p.Lys375Asn) c.1065G>C (p.Lys355Asn) c.996G>C (p.Lys332Asn) c.915G>C (p.Lys305Asn) c.*1+27553C>G (n.*1+27553C>G) c.1017G>C (p.Lys339Asn) c.948G>C (p.Lys316Asn) n.1478+24027C>G | dbSNP gnomAD v4 COSMIC |
9 | g.4576626G= | CA1829385475 | SLC1A1,SPATA6L | c.1056G= (p.Lys352=) c.343G= c.*782-22238C= (n.*782-22238C=) c.1125G= (p.Lys375=) c.1065G= (p.Lys355=) c.996G= (p.Lys332=) c.915G= (p.Lys305=) c.*1+27553C= (n.*1+27553C=) c.1017G= (p.Lys339=) c.948G= (p.Lys316=) n.1478+24027C= | |
9 | g.4576626G>T | CA372818385 | SLC1A1,SPATA6L | c.1056G>T (p.Lys352Asn) c.343G>T c.*782-22238C>A (n.*782-22238C>A) c.1125G>T (p.Lys375Asn) c.1065G>T (p.Lys355Asn) c.996G>T (p.Lys332Asn) c.915G>T (p.Lys305Asn) c.*1+27553C>A (n.*1+27553C>A) c.1017G>T (p.Lys339Asn) c.948G>T (p.Lys316Asn) n.1478+24027C>A | |
9 | g.4576627A>C | CA463728471 | SLC1A1,SPATA6L | c.1057A>C (p.Arg353=) c.344A>C c.*782-22239T>G (n.*782-22239T>G) c.1126A>C (p.Arg376=) c.1066A>C (p.Arg356=) c.997A>C (p.Arg333=) c.916A>C (p.Arg306=) c.*1+27552T>G (n.*1+27552T>G) c.1018A>C (p.Arg340=) c.949A>C (p.Arg317=) n.1478+24026T>G | |
9 | g.4576627A>G | CA372818386 | SLC1A1,SPATA6L | c.1057A>G (p.Arg353Gly) c.344A>G c.*782-22239T>C (n.*782-22239T>C) c.1126A>G (p.Arg376Gly) c.1066A>G (p.Arg356Gly) c.997A>G (p.Arg333Gly) c.916A>G (p.Arg306Gly) c.*1+27552T>C (n.*1+27552T>C) c.1018A>G (p.Arg340Gly) c.949A>G (p.Arg317Gly) n.1478+24026T>C | |
9 | g.4576627A>T | CA372818387 | SLC1A1,SPATA6L | c.1057A>T (p.Arg353Trp) c.344A>T c.*782-22239T>A (n.*782-22239T>A) c.1126A>T (p.Arg376Trp) c.1066A>T (p.Arg356Trp) c.997A>T (p.Arg333Trp) c.916A>T (p.Arg306Trp) c.*1+27552T>A (n.*1+27552T>A) c.1018A>T (p.Arg340Trp) c.949A>T (p.Arg317Trp) n.1478+24026T>A | |
9 | g.4576628G>A | CA372818390 | SLC1A1,SPATA6L | c.1058G>A (p.Arg353Lys) c.345G>A c.*782-22240C>T (n.*782-22240C>T) c.1127G>A (p.Arg376Lys) c.1067G>A (p.Arg356Lys) c.998G>A (p.Arg333Lys) c.917G>A (p.Arg306Lys) c.*1+27551C>T (n.*1+27551C>T) c.1019G>A (p.Arg340Lys) c.950G>A (p.Arg317Lys) n.1478+24025C>T | gnomAD v4 |
9 | g.4576628G>C | CA372818389 | SLC1A1,SPATA6L | c.1058G>C (p.Arg353Thr) c.345G>C c.*782-22240C>G (n.*782-22240C>G) c.1127G>C (p.Arg376Thr) c.1067G>C (p.Arg356Thr) c.998G>C (p.Arg333Thr) c.917G>C (p.Arg306Thr) c.*1+27551C>G (n.*1+27551C>G) c.1019G>C (p.Arg340Thr) c.950G>C (p.Arg317Thr) n.1478+24025C>G | |
9 | g.4576628G>T | CA372818388 | SLC1A1,SPATA6L | c.1058G>T (p.Arg353Met) c.345G>T c.*782-22240C>A (n.*782-22240C>A) c.1127G>T (p.Arg376Met) c.1067G>T (p.Arg356Met) c.998G>T (p.Arg333Met) c.917G>T (p.Arg306Met) c.*1+27551C>A (n.*1+27551C>A) c.1019G>T (p.Arg340Met) c.950G>T (p.Arg317Met) n.1478+24025C>A | |
9 | g.4576629G>A | CA463728479 | SLC1A1,SPATA6L | c.1059G>A (p.Arg353=) c.346G>A c.*782-22241C>T (n.*782-22241C>T) c.1128G>A (p.Arg376=) c.1068G>A (p.Arg356=) c.999G>A (p.Arg333=) c.918G>A (p.Arg306=) c.*1+27550C>T (n.*1+27550C>T) c.1020G>A (p.Arg340=) c.951G>A (p.Arg317=) n.1478+24024C>T | gnomAD v4 |
9 | g.4576629G>C | CA372818391 | SLC1A1,SPATA6L | c.1059G>C (p.Arg353Ser) c.346G>C c.*782-22241C>G (n.*782-22241C>G) c.1128G>C (p.Arg376Ser) c.1068G>C (p.Arg356Ser) c.999G>C (p.Arg333Ser) c.918G>C (p.Arg306Ser) c.*1+27550C>G (n.*1+27550C>G) c.1020G>C (p.Arg340Ser) c.951G>C (p.Arg317Ser) n.1478+24024C>G | dbSNP |
9 | g.4576629G= | CA1829385479 | SLC1A1,SPATA6L | c.1059G= (p.Arg353=) c.346G= c.*782-22241C= (n.*782-22241C=) c.1128G= (p.Arg376=) c.1068G= (p.Arg356=) c.999G= (p.Arg333=) c.918G= (p.Arg306=) c.*1+27550C= (n.*1+27550C=) c.1020G= (p.Arg340=) c.951G= (p.Arg317=) n.1478+24024C= | |
9 | g.4576629G>T | CA372818392 | SLC1A1,SPATA6L | c.1059G>T (p.Arg353Ser) c.346G>T c.*782-22241C>A (n.*782-22241C>A) c.1128G>T (p.Arg376Ser) c.1068G>T (p.Arg356Ser) c.999G>T (p.Arg333Ser) c.918G>T (p.Arg306Ser) c.*1+27550C>A (n.*1+27550C>A) c.1020G>T (p.Arg340Ser) c.951G>T (p.Arg317Ser) n.1478+24024C>A | |
9 | g.4576630A>C | CA372818393 | SLC1A1,SPATA6L | c.1060A>C (p.Ile354Leu) c.347A>C c.*782-22242T>G (n.*782-22242T>G) c.1129A>C (p.Ile377Leu) c.1069A>C (p.Ile357Leu) c.1000A>C (p.Ile334Leu) c.919A>C (p.Ile307Leu) c.*1+27549T>G (n.*1+27549T>G) c.1021A>C (p.Ile341Leu) c.952A>C (p.Ile318Leu) n.1478+24023T>G | gnomAD v4 |
9 | g.4576630A>G | CA372818394 | SLC1A1,SPATA6L | c.1060A>G (p.Ile354Val) c.347A>G c.*782-22242T>C (n.*782-22242T>C) c.1129A>G (p.Ile377Val) c.1069A>G (p.Ile357Val) c.1000A>G (p.Ile334Val) c.919A>G (p.Ile307Val) c.*1+27549T>C (n.*1+27549T>C) c.1021A>G (p.Ile341Val) c.952A>G (p.Ile318Val) n.1478+24023T>C | |
9 | g.4576630A>T | CA372818395 | SLC1A1,SPATA6L | c.1060A>T (p.Ile354Phe) c.347A>T c.*782-22242T>A (n.*782-22242T>A) c.1129A>T (p.Ile377Phe) c.1069A>T (p.Ile357Phe) c.1000A>T (p.Ile334Phe) c.919A>T (p.Ile307Phe) c.*1+27549T>A (n.*1+27549T>A) c.1021A>T (p.Ile341Phe) c.952A>T (p.Ile318Phe) n.1478+24023T>A | |
9 | g.4576631T>A | CA372818396 | SLC1A1,SPATA6L | c.1061T>A (p.Ile354Asn) c.348T>A c.*782-22243A>T (n.*782-22243A>T) c.1130T>A (p.Ile377Asn) c.1070T>A (p.Ile357Asn) c.1001T>A (p.Ile334Asn) c.920T>A (p.Ile307Asn) c.*1+27548A>T (n.*1+27548A>T) c.1022T>A (p.Ile341Asn) c.953T>A (p.Ile318Asn) n.1478+24022A>T | |
9 | g.4576631T>C | CA372818397 | SLC1A1,SPATA6L | c.1061T>C (p.Ile354Thr) c.348T>C c.*782-22243A>G (n.*782-22243A>G) c.1130T>C (p.Ile377Thr) c.1070T>C (p.Ile357Thr) c.1001T>C (p.Ile334Thr) c.920T>C (p.Ile307Thr) c.*1+27548A>G (n.*1+27548A>G) c.1022T>C (p.Ile341Thr) c.953T>C (p.Ile318Thr) n.1478+24022A>G | gnomAD v4 |
9 | g.4576631T>G | CA372818398 | SLC1A1,SPATA6L | c.1061T>G (p.Ile354Ser) c.348T>G c.*782-22243A>C (n.*782-22243A>C) c.1130T>G (p.Ile377Ser) c.1070T>G (p.Ile357Ser) c.1001T>G (p.Ile334Ser) c.920T>G (p.Ile307Ser) c.*1+27548A>C (n.*1+27548A>C) c.1022T>G (p.Ile341Ser) c.953T>G (p.Ile318Ser) n.1478+24022A>C | |
9 | g.4576632C>A | CA463728487 | SLC1A1,SPATA6L | c.1062C>A (p.Ile354=) c.349C>A c.*782-22244G>T (n.*782-22244G>T) c.1131C>A (p.Ile377=) c.1071C>A (p.Ile357=) c.1002C>A (p.Ile334=) c.921C>A (p.Ile307=) c.*1+27547G>T (n.*1+27547G>T) c.1023C>A (p.Ile341=) c.954C>A (p.Ile318=) n.1478+24021G>T | gnomAD v4 |
9 | g.4576632C>G | CA372818399 | SLC1A1,SPATA6L | c.1062C>G (p.Ile354Met) c.349C>G c.*782-22244G>C (n.*782-22244G>C) c.1131C>G (p.Ile377Met) c.1071C>G (p.Ile357Met) c.1002C>G (p.Ile334Met) c.921C>G (p.Ile307Met) c.*1+27547G>C (n.*1+27547G>C) c.1023C>G (p.Ile341Met) c.954C>G (p.Ile318Met) n.1478+24021G>C | gnomAD v4 |
9 | g.4576632C>T | CA463728492 | SLC1A1,SPATA6L | c.1062C>T (p.Ile354=) c.349C>T c.*782-22244G>A (n.*782-22244G>A) c.1131C>T (p.Ile377=) c.1071C>T (p.Ile357=) c.1002C>T (p.Ile334=) c.921C>T (p.Ile307=) c.*1+27547G>A (n.*1+27547G>A) c.1023C>T (p.Ile341=) c.954C>T (p.Ile318=) n.1478+24021G>A | |
9 | g.4576633A>C | CA372818400 | SLC1A1,SPATA6L | c.1063A>C (p.Thr355Pro) c.350A>C c.*782-22245T>G (n.*782-22245T>G) c.1132A>C (p.Thr378Pro) c.1072A>C (p.Thr358Pro) c.1003A>C (p.Thr335Pro) c.922A>C (p.Thr308Pro) c.*1+27546T>G (n.*1+27546T>G) c.1024A>C (p.Thr342Pro) c.955A>C (p.Thr319Pro) n.1478+24020T>G | |
9 | g.4576633A>G | CA372818401 | SLC1A1,SPATA6L | c.1063A>G (p.Thr355Ala) c.350A>G c.*782-22245T>C (n.*782-22245T>C) c.1132A>G (p.Thr378Ala) c.1072A>G (p.Thr358Ala) c.1003A>G (p.Thr335Ala) c.922A>G (p.Thr308Ala) c.*1+27546T>C (n.*1+27546T>C) c.1024A>G (p.Thr342Ala) c.955A>G (p.Thr319Ala) n.1478+24020T>C | |
9 | g.4576633A>T | CA372818402 | SLC1A1,SPATA6L | c.1063A>T (p.Thr355Ser) c.350A>T c.*782-22245T>A (n.*782-22245T>A) c.1132A>T (p.Thr378Ser) c.1072A>T (p.Thr358Ser) c.1003A>T (p.Thr335Ser) c.922A>T (p.Thr308Ser) c.*1+27546T>A (n.*1+27546T>A) c.1024A>T (p.Thr342Ser) c.955A>T (p.Thr319Ser) n.1478+24020T>A | |
9 | g.4576634C>A | CA372818404 | SLC1A1,SPATA6L | c.1064C>A (p.Thr355Asn) c.351C>A c.*782-22246G>T (n.*782-22246G>T) c.1133C>A (p.Thr378Asn) c.1073C>A (p.Thr358Asn) c.1004C>A (p.Thr335Asn) c.923C>A (p.Thr308Asn) c.*1+27545G>T (n.*1+27545G>T) c.1025C>A (p.Thr342Asn) c.956C>A (p.Thr319Asn) n.1478+24019G>T | |
9 | g.4576634C>G | CA372818405 | SLC1A1,SPATA6L | c.1064C>G (p.Thr355Ser) c.351C>G c.*782-22246G>C (n.*782-22246G>C) c.1133C>G (p.Thr378Ser) c.1073C>G (p.Thr358Ser) c.1004C>G (p.Thr335Ser) c.923C>G (p.Thr308Ser) c.*1+27545G>C (n.*1+27545G>C) c.1025C>G (p.Thr342Ser) c.956C>G (p.Thr319Ser) n.1478+24019G>C | |
9 | g.4576634C>T | CA372818403 | SLC1A1,SPATA6L | c.1064C>T (p.Thr355Ile) c.351C>T c.*782-22246G>A (n.*782-22246G>A) c.1133C>T (p.Thr378Ile) c.1073C>T (p.Thr358Ile) c.1004C>T (p.Thr335Ile) c.923C>T (p.Thr308Ile) c.*1+27545G>A (n.*1+27545G>A) c.1025C>T (p.Thr342Ile) c.956C>T (p.Thr319Ile) n.1478+24019G>A | gnomAD v4 |
9 | g.4576635del | CA2689285195 | SLC1A1,SPATA6L | c.1065del (p.Arg356AspfsTer29) c.352del c.*782-22247del (n.*782-22247del) c.1134del (p.Arg379AspfsTer29) c.1074del (p.Arg359AspfsTer29) c.1005del (p.Arg336AspfsTer29) c.924del (p.Arg309AspfsTer29) c.*1+27544del (n.*1+27544del) c.1026del (p.Arg343AspfsTer29) c.957del (p.Arg320AspfsTer29) n.1478+24018del | gnomAD v4 |
9 | g.4576635T>A | CA463728502 | SLC1A1,SPATA6L | c.1065T>A (p.Thr355=) c.352T>A c.*782-22247A>T (n.*782-22247A>T) c.1134T>A (p.Thr378=) c.1074T>A (p.Thr358=) c.1005T>A (p.Thr335=) c.924T>A (p.Thr308=) c.*1+27544A>T (n.*1+27544A>T) c.1026T>A (p.Thr342=) c.957T>A (p.Thr319=) n.1478+24018A>T | |
9 | g.4576635T>C | CA463728504 | SLC1A1,SPATA6L | c.1065T>C (p.Thr355=) c.352T>C c.*782-22247A>G (n.*782-22247A>G) c.1134T>C (p.Thr378=) c.1074T>C (p.Thr358=) c.1005T>C (p.Thr335=) c.924T>C (p.Thr308=) c.*1+27544A>G (n.*1+27544A>G) c.1026T>C (p.Thr342=) c.957T>C (p.Thr319=) n.1478+24018A>G | |
9 | g.4576635T>G | CA463728506 | SLC1A1,SPATA6L | c.1065T>G (p.Thr355=) c.352T>G c.*782-22247A>C (n.*782-22247A>C) c.1134T>G (p.Thr378=) c.1074T>G (p.Thr358=) c.1005T>G (p.Thr335=) c.924T>G (p.Thr308=) c.*1+27544A>C (n.*1+27544A>C) c.1026T>G (p.Thr342=) c.957T>G (p.Thr319=) n.1478+24018A>C | dbSNP |
9 | g.4576635T= | CA1829385483 | SLC1A1,SPATA6L | c.1065T= (p.Thr355=) c.352T= c.*782-22247A= (n.*782-22247A=) c.1134T= (p.Thr378=) c.1074T= (p.Thr358=) c.1005T= (p.Thr335=) c.924T= (p.Thr308=) c.*1+27544A= (n.*1+27544A=) c.1026T= (p.Thr342=) c.957T= (p.Thr319=) n.1478+24018A= | |
9 | g.4576636C>A | CA4969218 | SLC1A1,SPATA6L | c.1066C>A (p.Arg356=) c.353C>A c.*782-22248G>T (n.*782-22248G>T) c.1135C>A (p.Arg379=) c.1075C>A (p.Arg359=) c.1006C>A (p.Arg336=) c.925C>A (p.Arg309=) c.*1+27543G>T (n.*1+27543G>T) c.1027C>A (p.Arg343=) c.958C>A (p.Arg320=) n.1478+24017G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576636C= | CA1829385489 | SLC1A1,SPATA6L | c.1066C= (p.Arg356=) c.353C= c.*782-22248G= (n.*782-22248G=) c.1135C= (p.Arg379=) c.1075C= (p.Arg359=) c.1006C= (p.Arg336=) c.925C= (p.Arg309=) c.*1+27543G= (n.*1+27543G=) c.1027C= (p.Arg343=) c.958C= (p.Arg320=) n.1478+24017G= | |
9 | g.4576636C>G | CA372818406 | SLC1A1,SPATA6L | c.1066C>G (p.Arg356Gly) c.353C>G c.*782-22248G>C (n.*782-22248G>C) c.1135C>G (p.Arg379Gly) c.1075C>G (p.Arg359Gly) c.1006C>G (p.Arg336Gly) c.925C>G (p.Arg309Gly) c.*1+27543G>C (n.*1+27543G>C) c.1027C>G (p.Arg343Gly) c.958C>G (p.Arg320Gly) n.1478+24017G>C | gnomAD v4 |
9 | g.4576636C>T | CA372818407 | SLC1A1,SPATA6L | c.1066C>T (p.Arg356Ter) c.353C>T c.*782-22248G>A (n.*782-22248G>A) c.1135C>T (p.Arg379Ter) c.1075C>T (p.Arg359Ter) c.1006C>T (p.Arg336Ter) c.925C>T (p.Arg309Ter) c.*1+27543G>A (n.*1+27543G>A) c.1027C>T (p.Arg343Ter) c.958C>T (p.Arg320Ter) n.1478+24017G>A | ClinVar dbSNP gnomAD v4 |
9 | g.4576636_4576637insAGG | CA2689285196 | SLC1A1,SPATA6L | c.1066_1067insAGG (p.Arg356delinsGlnGly) c.353_354insAGG c.*782-22249_*782-22248insCCT (n.*782-22249_*782-22248insCCT) c.1135_1136insAGG (p.Arg379delinsGlnGly) c.1075_1076insAGG (p.Arg359delinsGlnGly) c.1006_1007insAGG (p.Arg336delinsGlnGly) c.925_926insAGG (p.Arg309delinsGlnGly) c.*1+27542_*1+27543insCCT (n.*1+27542_*1+27543insCCT) c.1027_1028insAGG (p.Arg343delinsGlnGly) c.958_959insAGG (p.Arg320delinsGlnGly) n.1478+24016_1478+24017insCCT | gnomAD v4 |
9 | g.4576637G>A | CA4969219 | SLC1A1,SPATA6L | c.1067G>A (p.Arg356Gln) c.354G>A c.*782-22249C>T (n.*782-22249C>T) c.1136G>A (p.Arg379Gln) c.1076G>A (p.Arg359Gln) c.1007G>A (p.Arg336Gln) c.926G>A (p.Arg309Gln) c.*1+27542C>T (n.*1+27542C>T) c.1028G>A (p.Arg343Gln) c.959G>A (p.Arg320Gln) n.1478+24016C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576637G>C | CA372818408 | SLC1A1,SPATA6L | c.1067G>C (p.Arg356Pro) c.354G>C c.*782-22249C>G (n.*782-22249C>G) c.1136G>C (p.Arg379Pro) c.1076G>C (p.Arg359Pro) c.1007G>C (p.Arg336Pro) c.926G>C (p.Arg309Pro) c.*1+27542C>G (n.*1+27542C>G) c.1028G>C (p.Arg343Pro) c.959G>C (p.Arg320Pro) n.1478+24016C>G | |
9 | g.4576637G= | CA1829385492 | SLC1A1,SPATA6L | c.1067G= (p.Arg356=) c.354G= c.*782-22249C= (n.*782-22249C=) c.1136G= (p.Arg379=) c.1076G= (p.Arg359=) c.1007G= (p.Arg336=) c.926G= (p.Arg309=) c.*1+27542C= (n.*1+27542C=) c.1028G= (p.Arg343=) c.959G= (p.Arg320=) n.1478+24016C= | |
9 | g.4576637G>T | CA372818409 | SLC1A1,SPATA6L | c.1067G>T (p.Arg356Leu) c.354G>T c.*782-22249C>A (n.*782-22249C>A) c.1136G>T (p.Arg379Leu) c.1076G>T (p.Arg359Leu) c.1007G>T (p.Arg336Leu) c.926G>T (p.Arg309Leu) c.*1+27542C>A (n.*1+27542C>A) c.1028G>T (p.Arg343Leu) c.959G>T (p.Arg320Leu) n.1478+24016C>A | |
9 | g.4576638A>C | CA463728515 | SLC1A1,SPATA6L | c.1068A>C (p.Arg356=) c.355A>C c.*782-22250T>G (n.*782-22250T>G) c.1137A>C (p.Arg379=) c.1077A>C (p.Arg359=) c.1008A>C (p.Arg336=) c.927A>C (p.Arg309=) c.*1+27541T>G (n.*1+27541T>G) c.1029A>C (p.Arg343=) c.960A>C (p.Arg320=) n.1478+24015T>G | |
9 | g.4576638A>G | CA463728517 | SLC1A1,SPATA6L | c.1068A>G (p.Arg356=) c.355A>G c.*782-22250T>C (n.*782-22250T>C) c.1137A>G (p.Arg379=) c.1077A>G (p.Arg359=) c.1008A>G (p.Arg336=) c.927A>G (p.Arg309=) c.*1+27541T>C (n.*1+27541T>C) c.1029A>G (p.Arg343=) c.960A>G (p.Arg320=) n.1478+24015T>C | |
9 | g.4576638A>T | CA463728519 | SLC1A1,SPATA6L | c.1068A>T (p.Arg356=) c.355A>T c.*782-22250T>A (n.*782-22250T>A) c.1137A>T (p.Arg379=) c.1077A>T (p.Arg359=) c.1008A>T (p.Arg336=) c.927A>T (p.Arg309=) c.*1+27541T>A (n.*1+27541T>A) c.1029A>T (p.Arg343=) c.960A>T (p.Arg320=) n.1478+24015T>A | gnomAD v4 |
9 | g.4576639T>A | CA372818410 | SLC1A1,SPATA6L | c.1069T>A (p.Phe357Ile) c.356T>A c.*782-22251A>T (n.*782-22251A>T) c.1138T>A (p.Phe380Ile) c.1078T>A (p.Phe360Ile) c.1009T>A (p.Phe337Ile) c.928T>A (p.Phe310Ile) c.*1+27540A>T (n.*1+27540A>T) c.1030T>A (p.Phe344Ile) c.961T>A (p.Phe321Ile) n.1478+24014A>T | |
9 | g.4576639T>C | CA372818411 | SLC1A1,SPATA6L | c.1069T>C (p.Phe357Leu) c.356T>C c.*782-22251A>G (n.*782-22251A>G) c.1138T>C (p.Phe380Leu) c.1078T>C (p.Phe360Leu) c.1009T>C (p.Phe337Leu) c.928T>C (p.Phe310Leu) c.*1+27540A>G (n.*1+27540A>G) c.1030T>C (p.Phe344Leu) c.961T>C (p.Phe321Leu) n.1478+24014A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576639T>G | CA372818412 | SLC1A1,SPATA6L | c.1069T>G (p.Phe357Val) c.356T>G c.*782-22251A>C (n.*782-22251A>C) c.1138T>G (p.Phe380Val) c.1078T>G (p.Phe360Val) c.1009T>G (p.Phe337Val) c.928T>G (p.Phe310Val) c.*1+27540A>C (n.*1+27540A>C) c.1030T>G (p.Phe344Val) c.961T>G (p.Phe321Val) n.1478+24014A>C | |
9 | g.4576639T= | CA1829385497 | SLC1A1,SPATA6L | c.1069T= (p.Phe357=) c.356T= c.*782-22251A= (n.*782-22251A=) c.1138T= (p.Phe380=) c.1078T= (p.Phe360=) c.1009T= (p.Phe337=) c.928T= (p.Phe310=) c.*1+27540A= (n.*1+27540A=) c.1030T= (p.Phe344=) c.961T= (p.Phe321=) n.1478+24014A= | |
9 | g.4576640T>A | CA372818413 | SLC1A1,SPATA6L | c.1070T>A (p.Phe357Tyr) c.357T>A c.*782-22252A>T (n.*782-22252A>T) c.1139T>A (p.Phe380Tyr) c.1079T>A (p.Phe360Tyr) c.1010T>A (p.Phe337Tyr) c.929T>A (p.Phe310Tyr) c.*1+27539A>T (n.*1+27539A>T) c.1031T>A (p.Phe344Tyr) c.962T>A (p.Phe321Tyr) n.1478+24013A>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576640T>C | CA372818414 | SLC1A1,SPATA6L | c.1070T>C (p.Phe357Ser) c.357T>C c.*782-22252A>G (n.*782-22252A>G) c.1139T>C (p.Phe380Ser) c.1079T>C (p.Phe360Ser) c.1010T>C (p.Phe337Ser) c.929T>C (p.Phe310Ser) c.*1+27539A>G (n.*1+27539A>G) c.1031T>C (p.Phe344Ser) c.962T>C (p.Phe321Ser) n.1478+24013A>G | |
9 | g.4576640T>G | CA372818415 | SLC1A1,SPATA6L | c.1070T>G (p.Phe357Cys) c.357T>G c.*782-22252A>C (n.*782-22252A>C) c.1139T>G (p.Phe380Cys) c.1079T>G (p.Phe360Cys) c.1010T>G (p.Phe337Cys) c.929T>G (p.Phe310Cys) c.*1+27539A>C (n.*1+27539A>C) c.1031T>G (p.Phe344Cys) c.962T>G (p.Phe321Cys) n.1478+24013A>C | |
9 | g.4576640T= | CA1829385500 | SLC1A1,SPATA6L | c.1070T= (p.Phe357=) c.357T= c.*782-22252A= (n.*782-22252A=) c.1139T= (p.Phe380=) c.1079T= (p.Phe360=) c.1010T= (p.Phe337=) c.929T= (p.Phe310=) c.*1+27539A= (n.*1+27539A=) c.1031T= (p.Phe344=) c.962T= (p.Phe321=) n.1478+24013A= | |
9 | g.4576641C>A | CA4969220 | SLC1A1,SPATA6L | c.1071C>A (p.Phe357Leu) c.358C>A c.*782-22253G>T (n.*782-22253G>T) c.1140C>A (p.Phe380Leu) c.1080C>A (p.Phe360Leu) c.1011C>A (p.Phe337Leu) c.930C>A (p.Phe310Leu) c.*1+27538G>T (n.*1+27538G>T) c.1032C>A (p.Phe344Leu) c.963C>A (p.Phe321Leu) n.1478+24012G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576641C= | CA1829385504 | SLC1A1,SPATA6L | c.1071C= (p.Phe357=) c.358C= c.*782-22253G= (n.*782-22253G=) c.1140C= (p.Phe380=) c.1080C= (p.Phe360=) c.1011C= (p.Phe337=) c.930C= (p.Phe310=) c.*1+27538G= (n.*1+27538G=) c.1032C= (p.Phe344=) c.963C= (p.Phe321=) n.1478+24012G= | |
9 | g.4576641C>G | CA372818416 | SLC1A1,SPATA6L | c.1071C>G (p.Phe357Leu) c.358C>G c.*782-22253G>C (n.*782-22253G>C) c.1140C>G (p.Phe380Leu) c.1080C>G (p.Phe360Leu) c.1011C>G (p.Phe337Leu) c.930C>G (p.Phe310Leu) c.*1+27538G>C (n.*1+27538G>C) c.1032C>G (p.Phe344Leu) c.963C>G (p.Phe321Leu) n.1478+24012G>C | |
9 | g.4576641C>T | CA4969221 | SLC1A1,SPATA6L | c.1071C>T (p.Phe357=) c.358C>T c.*782-22253G>A (n.*782-22253G>A) c.1140C>T (p.Phe380=) c.1080C>T (p.Phe360=) c.1011C>T (p.Phe337=) c.930C>T (p.Phe310=) c.*1+27538G>A (n.*1+27538G>A) c.1032C>T (p.Phe344=) c.963C>T (p.Phe321=) n.1478+24012G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.4576642G>A | CA4969222 | SLC1A1,SPATA6L | c.1072G>A (p.Val358Met) c.359G>A c.*782-22254C>T (n.*782-22254C>T) c.1141G>A (p.Val381Met) c.1081G>A (p.Val361Met) c.1012G>A (p.Val338Met) c.931G>A (p.Val311Met) c.*1+27537C>T (n.*1+27537C>T) c.1033G>A (p.Val345Met) c.964G>A (p.Val322Met) n.1478+24011C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576642G>C | CA372818417 | SLC1A1,SPATA6L | c.1072G>C (p.Val358Leu) c.359G>C c.*782-22254C>G (n.*782-22254C>G) c.1141G>C (p.Val381Leu) c.1081G>C (p.Val361Leu) c.1012G>C (p.Val338Leu) c.931G>C (p.Val311Leu) c.*1+27537C>G (n.*1+27537C>G) c.1033G>C (p.Val345Leu) c.964G>C (p.Val322Leu) n.1478+24011C>G | COSMIC |
9 | g.4576642G= | CA1829385508 | SLC1A1,SPATA6L | c.1072G= (p.Val358=) c.359G= c.*782-22254C= (n.*782-22254C=) c.1141G= (p.Val381=) c.1081G= (p.Val361=) c.1012G= (p.Val338=) c.931G= (p.Val311=) c.*1+27537C= (n.*1+27537C=) c.1033G= (p.Val345=) c.964G= (p.Val322=) n.1478+24011C= | |
9 | g.4576642G>T | CA4969223 | SLC1A1,SPATA6L | c.1072G>T (p.Val358Leu) c.359G>T c.*782-22254C>A (n.*782-22254C>A) c.1141G>T (p.Val381Leu) c.1081G>T (p.Val361Leu) c.1012G>T (p.Val338Leu) c.931G>T (p.Val311Leu) c.*1+27537C>A (n.*1+27537C>A) c.1033G>T (p.Val345Leu) c.964G>T (p.Val322Leu) n.1478+24011C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576643T>A | CA372818418 | SLC1A1,SPATA6L | c.1073T>A (p.Val358Glu) c.360T>A c.*782-22255A>T (n.*782-22255A>T) c.1142T>A (p.Val381Glu) c.1082T>A (p.Val361Glu) c.1013T>A (p.Val338Glu) c.932T>A (p.Val311Glu) c.*1+27536A>T (n.*1+27536A>T) c.1034T>A (p.Val345Glu) c.965T>A (p.Val322Glu) n.1478+24010A>T | |
9 | g.4576643T>C | CA372818419 | SLC1A1,SPATA6L | c.1073T>C (p.Val358Ala) c.360T>C c.*782-22255A>G (n.*782-22255A>G) c.1142T>C (p.Val381Ala) c.1082T>C (p.Val361Ala) c.1013T>C (p.Val338Ala) c.932T>C (p.Val311Ala) c.*1+27536A>G (n.*1+27536A>G) c.1034T>C (p.Val345Ala) c.965T>C (p.Val322Ala) n.1478+24010A>G | dbSNP |
9 | g.4576643T>G | CA372818420 | SLC1A1,SPATA6L | c.1073T>G (p.Val358Gly) c.360T>G c.*782-22255A>C (n.*782-22255A>C) c.1142T>G (p.Val381Gly) c.1082T>G (p.Val361Gly) c.1013T>G (p.Val338Gly) c.932T>G (p.Val311Gly) c.*1+27536A>C (n.*1+27536A>C) c.1034T>G (p.Val345Gly) c.965T>G (p.Val322Gly) n.1478+24010A>C | |
9 | g.4576643T= | CA1829385510 | SLC1A1,SPATA6L | c.1073T= (p.Val358=) c.360T= c.*782-22255A= (n.*782-22255A=) c.1142T= (p.Val381=) c.1082T= (p.Val361=) c.1013T= (p.Val338=) c.932T= (p.Val311=) c.*1+27536A= (n.*1+27536A=) c.1034T= (p.Val345=) c.965T= (p.Val322=) n.1478+24010A= | |
9 | g.4576644G>A | CA463728540 | SLC1A1,SPATA6L | c.1074G>A (p.Val358=) c.361G>A c.*782-22256C>T (n.*782-22256C>T) c.1143G>A (p.Val381=) c.1083G>A (p.Val361=) c.1014G>A (p.Val338=) c.933G>A (p.Val311=) c.*1+27535C>T (n.*1+27535C>T) c.1035G>A (p.Val345=) c.966G>A (p.Val322=) n.1478+24009C>T | |
9 | g.4576644G>C | CA463728542 | SLC1A1,SPATA6L | c.1074G>C (p.Val358=) c.361G>C c.*782-22256C>G (n.*782-22256C>G) c.1143G>C (p.Val381=) c.1083G>C (p.Val361=) c.1014G>C (p.Val338=) c.933G>C (p.Val311=) c.*1+27535C>G (n.*1+27535C>G) c.1035G>C (p.Val345=) c.966G>C (p.Val322=) n.1478+24009C>G | |
9 | g.4576644G>T | CA463728544 | SLC1A1,SPATA6L | c.1074G>T (p.Val358=) c.361G>T c.*782-22256C>A (n.*782-22256C>A) c.1143G>T (p.Val381=) c.1083G>T (p.Val361=) c.1014G>T (p.Val338=) c.933G>T (p.Val311=) c.*1+27535C>A (n.*1+27535C>A) c.1035G>T (p.Val345=) c.966G>T (p.Val322=) n.1478+24009C>A | |
9 | g.4576645T>A | CA372818421 | SLC1A1,SPATA6L | c.1075T>A (p.Leu359Ile) c.362T>A c.*782-22257A>T (n.*782-22257A>T) c.1144T>A (p.Leu382Ile) c.1084T>A (p.Leu362Ile) c.1015T>A (p.Leu339Ile) c.934T>A (p.Leu312Ile) c.*1+27534A>T (n.*1+27534A>T) c.1036T>A (p.Leu346Ile) c.967T>A (p.Leu323Ile) n.1478+24008A>T | |
9 | g.4576645T>C | CA463728547 | SLC1A1,SPATA6L | c.1075T>C (p.Leu359=) c.362T>C c.*782-22257A>G (n.*782-22257A>G) c.1144T>C (p.Leu382=) c.1084T>C (p.Leu362=) c.1015T>C (p.Leu339=) c.934T>C (p.Leu312=) c.*1+27534A>G (n.*1+27534A>G) c.1036T>C (p.Leu346=) c.967T>C (p.Leu323=) n.1478+24008A>G | |
9 | g.4576645T>G | CA372818422 | SLC1A1,SPATA6L | c.1075T>G (p.Leu359Val) c.362T>G c.*782-22257A>C (n.*782-22257A>C) c.1144T>G (p.Leu382Val) c.1084T>G (p.Leu362Val) c.1015T>G (p.Leu339Val) c.934T>G (p.Leu312Val) c.*1+27534A>C (n.*1+27534A>C) c.1036T>G (p.Leu346Val) c.967T>G (p.Leu323Val) n.1478+24008A>C | |
9 | g.4576646T>A | CA372818423 | SLC1A1,SPATA6L | c.1076T>A (p.Leu359Ter) c.363T>A c.*782-22258A>T (n.*782-22258A>T) c.1145T>A (p.Leu382Ter) c.1085T>A (p.Leu362Ter) c.1016T>A (p.Leu339Ter) c.935T>A (p.Leu312Ter) c.*1+27533A>T (n.*1+27533A>T) c.1037T>A (p.Leu346Ter) c.968T>A (p.Leu323Ter) n.1478+24007A>T | |
9 | g.4576646T>C | CA372818424 | SLC1A1,SPATA6L | c.1076T>C (p.Leu359Ser) c.363T>C c.*782-22258A>G (n.*782-22258A>G) c.1145T>C (p.Leu382Ser) c.1085T>C (p.Leu362Ser) c.1016T>C (p.Leu339Ser) c.935T>C (p.Leu312Ser) c.*1+27533A>G (n.*1+27533A>G) c.1037T>C (p.Leu346Ser) c.968T>C (p.Leu323Ser) n.1478+24007A>G | gnomAD v4 |
9 | g.4576646T>G | CA372818425 | SLC1A1,SPATA6L | c.1076T>G (p.Leu359Ter) c.363T>G c.*782-22258A>C (n.*782-22258A>C) c.1145T>G (p.Leu382Ter) c.1085T>G (p.Leu362Ter) c.1016T>G (p.Leu339Ter) c.935T>G (p.Leu312Ter) c.*1+27533A>C (n.*1+27533A>C) c.1037T>G (p.Leu346Ter) c.968T>G (p.Leu323Ter) n.1478+24007A>C | COSMIC |
9 | g.4576647A>C | CA372818426 | SLC1A1,SPATA6L | c.1077A>C (p.Leu359Phe) c.364A>C c.*782-22259T>G (n.*782-22259T>G) c.1146A>C (p.Leu382Phe) c.1086A>C (p.Leu362Phe) c.1017A>C (p.Leu339Phe) c.936A>C (p.Leu312Phe) c.*1+27532T>G (n.*1+27532T>G) c.1038A>C (p.Leu346Phe) c.969A>C (p.Leu323Phe) n.1478+24006T>G | |
9 | g.4576647A>G | CA463728556 | SLC1A1,SPATA6L | c.1077A>G (p.Leu359=) c.364A>G c.*782-22259T>C (n.*782-22259T>C) c.1146A>G (p.Leu382=) c.1086A>G (p.Leu362=) c.1017A>G (p.Leu339=) c.936A>G (p.Leu312=) c.*1+27532T>C (n.*1+27532T>C) c.1038A>G (p.Leu346=) c.969A>G (p.Leu323=) n.1478+24006T>C | |
9 | g.4576647A>T | CA372818427 | SLC1A1,SPATA6L | c.1077A>T (p.Leu359Phe) c.364A>T c.*782-22259T>A (n.*782-22259T>A) c.1146A>T (p.Leu382Phe) c.1086A>T (p.Leu362Phe) c.1017A>T (p.Leu339Phe) c.936A>T (p.Leu312Phe) c.*1+27532T>A (n.*1+27532T>A) c.1038A>T (p.Leu346Phe) c.969A>T (p.Leu323Phe) n.1478+24006T>A | |
9 | g.4576648C>A | CA4969225 | SLC1A1,SPATA6L | c.1078C>A (p.Pro360Thr) c.365C>A c.*782-22260G>T (n.*782-22260G>T) c.1147C>A (p.Pro383Thr) c.1087C>A (p.Pro363Thr) c.1018C>A (p.Pro340Thr) c.937C>A (p.Pro313Thr) c.*1+27531G>T (n.*1+27531G>T) c.1039C>A (p.Pro347Thr) c.970C>A (p.Pro324Thr) n.1478+24005G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576648C= | CA1829385513 | SLC1A1,SPATA6L | c.1078C= (p.Pro360=) c.365C= c.*782-22260G= (n.*782-22260G=) c.1147C= (p.Pro383=) c.1087C= (p.Pro363=) c.1018C= (p.Pro340=) c.937C= (p.Pro313=) c.*1+27531G= (n.*1+27531G=) c.1039C= (p.Pro347=) c.970C= (p.Pro324=) n.1478+24005G= | |
9 | g.4576648C>G | CA372818428 | SLC1A1,SPATA6L | c.1078C>G (p.Pro360Ala) c.365C>G c.*782-22260G>C (n.*782-22260G>C) c.1147C>G (p.Pro383Ala) c.1087C>G (p.Pro363Ala) c.1018C>G (p.Pro340Ala) c.937C>G (p.Pro313Ala) c.*1+27531G>C (n.*1+27531G>C) c.1039C>G (p.Pro347Ala) c.970C>G (p.Pro324Ala) n.1478+24005G>C | gnomAD v4 |
9 | g.4576648C>T | CA4969224 | SLC1A1,SPATA6L | c.1078C>T (p.Pro360Ser) c.365C>T c.*782-22260G>A (n.*782-22260G>A) c.1147C>T (p.Pro383Ser) c.1087C>T (p.Pro363Ser) c.1018C>T (p.Pro340Ser) c.937C>T (p.Pro313Ser) c.*1+27531G>A (n.*1+27531G>A) c.1039C>T (p.Pro347Ser) c.970C>T (p.Pro324Ser) n.1478+24005G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576649C>A | CA372818429 | SLC1A1,SPATA6L | c.1079C>A (p.Pro360His) c.366C>A c.*782-22261G>T (n.*782-22261G>T) c.1148C>A (p.Pro383His) c.1088C>A (p.Pro363His) c.1019C>A (p.Pro340His) c.938C>A (p.Pro313His) c.*1+27530G>T (n.*1+27530G>T) c.1040C>A (p.Pro347His) c.971C>A (p.Pro324His) n.1478+24004G>T | |
9 | g.4576649C= | CA1829385517 | SLC1A1,SPATA6L | c.1079C= (p.Pro360=) c.366C= c.*782-22261G= (n.*782-22261G=) c.1148C= (p.Pro383=) c.1088C= (p.Pro363=) c.1019C= (p.Pro340=) c.938C= (p.Pro313=) c.*1+27530G= (n.*1+27530G=) c.1040C= (p.Pro347=) c.971C= (p.Pro324=) n.1478+24004G= | |
9 | g.4576649C>G | CA372818430 | SLC1A1,SPATA6L | c.1079C>G (p.Pro360Arg) c.366C>G c.*782-22261G>C (n.*782-22261G>C) c.1148C>G (p.Pro383Arg) c.1088C>G (p.Pro363Arg) c.1019C>G (p.Pro340Arg) c.938C>G (p.Pro313Arg) c.*1+27530G>C (n.*1+27530G>C) c.1040C>G (p.Pro347Arg) c.971C>G (p.Pro324Arg) n.1478+24004G>C | |
9 | g.4576649C>T | CA372818431 | SLC1A1,SPATA6L | c.1079C>T (p.Pro360Leu) c.366C>T c.*782-22261G>A (n.*782-22261G>A) c.1148C>T (p.Pro383Leu) c.1088C>T (p.Pro363Leu) c.1019C>T (p.Pro340Leu) c.938C>T (p.Pro313Leu) c.*1+27530G>A (n.*1+27530G>A) c.1040C>T (p.Pro347Leu) c.971C>T (p.Pro324Leu) n.1478+24004G>A | dbSNP gnomAD v4 |
9 | g.4576650C>A | CA463728568 | SLC1A1,SPATA6L | c.1080C>A (p.Pro360=) c.367C>A c.*782-22262G>T (n.*782-22262G>T) c.1149C>A (p.Pro383=) c.1089C>A (p.Pro363=) c.1020C>A (p.Pro340=) c.939C>A (p.Pro313=) c.*1+27529G>T (n.*1+27529G>T) c.1041C>A (p.Pro347=) c.972C>A (p.Pro324=) n.1478+24003G>T | |
9 | g.4576650C= | CA1829385519 | SLC1A1,SPATA6L | c.1080C= (p.Pro360=) c.367C= c.*782-22262G= (n.*782-22262G=) c.1149C= (p.Pro383=) c.1089C= (p.Pro363=) c.1020C= (p.Pro340=) c.939C= (p.Pro313=) c.*1+27529G= (n.*1+27529G=) c.1041C= (p.Pro347=) c.972C= (p.Pro324=) n.1478+24003G= | |
9 | g.4576650C>G | CA463728564 | SLC1A1,SPATA6L | c.1080C>G (p.Pro360=) c.367C>G c.*782-22262G>C (n.*782-22262G>C) c.1149C>G (p.Pro383=) c.1089C>G (p.Pro363=) c.1020C>G (p.Pro340=) c.939C>G (p.Pro313=) c.*1+27529G>C (n.*1+27529G>C) c.1041C>G (p.Pro347=) c.972C>G (p.Pro324=) n.1478+24003G>C | |
9 | g.4576650C>T | CA4969226 | SLC1A1,SPATA6L | c.1080C>T (p.Pro360=) c.367C>T c.*782-22262G>A (n.*782-22262G>A) c.1149C>T (p.Pro383=) c.1089C>T (p.Pro363=) c.1020C>T (p.Pro340=) c.939C>T (p.Pro313=) c.*1+27529G>A (n.*1+27529G>A) c.1041C>T (p.Pro347=) c.972C>T (p.Pro324=) n.1478+24003G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.4576651G>A | CA4969227 | SLC1A1,SPATA6L | c.1081G>A (p.Val361Ile) c.368G>A c.*782-22263C>T (n.*782-22263C>T) c.1150G>A (p.Val384Ile) c.1090G>A (p.Val364Ile) c.1021G>A (p.Val341Ile) c.940G>A (p.Val314Ile) c.*1+27528C>T (n.*1+27528C>T) c.1042G>A (p.Val348Ile) c.973G>A (p.Val325Ile) n.1478+24002C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576651G>C | CA372818432 | SLC1A1,SPATA6L | c.1081G>C (p.Val361Leu) c.368G>C c.*782-22263C>G (n.*782-22263C>G) c.1150G>C (p.Val384Leu) c.1090G>C (p.Val364Leu) c.1021G>C (p.Val341Leu) c.940G>C (p.Val314Leu) c.*1+27528C>G (n.*1+27528C>G) c.1042G>C (p.Val348Leu) c.973G>C (p.Val325Leu) n.1478+24002C>G | |
9 | g.4576651G= | CA1829385521 | SLC1A1,SPATA6L | c.1081G= (p.Val361=) c.368G= c.*782-22263C= (n.*782-22263C=) c.1150G= (p.Val384=) c.1090G= (p.Val364=) c.1021G= (p.Val341=) c.940G= (p.Val314=) c.*1+27528C= (n.*1+27528C=) c.1042G= (p.Val348=) c.973G= (p.Val325=) n.1478+24002C= | |
9 | g.4576651G>T | CA372818433 | SLC1A1,SPATA6L | c.1081G>T (p.Val361Phe) c.368G>T c.*782-22263C>A (n.*782-22263C>A) c.1150G>T (p.Val384Phe) c.1090G>T (p.Val364Phe) c.1021G>T (p.Val341Phe) c.940G>T (p.Val314Phe) c.*1+27528C>A (n.*1+27528C>A) c.1042G>T (p.Val348Phe) c.973G>T (p.Val325Phe) n.1478+24002C>A | gnomAD v4 |
9 | g.4576652T>A | CA372818434 | SLC1A1,SPATA6L | c.1082T>A (p.Val361Asp) c.369T>A c.*782-22264A>T (n.*782-22264A>T) c.1151T>A (p.Val384Asp) c.1091T>A (p.Val364Asp) c.1022T>A (p.Val341Asp) c.941T>A (p.Val314Asp) c.*1+27527A>T (n.*1+27527A>T) c.1043T>A (p.Val348Asp) c.974T>A (p.Val325Asp) n.1478+24001A>T | |
9 | g.4576652T>C | CA372818435 | SLC1A1,SPATA6L | c.1082T>C (p.Val361Ala) c.369T>C c.*782-22264A>G (n.*782-22264A>G) c.1151T>C (p.Val384Ala) c.1091T>C (p.Val364Ala) c.1022T>C (p.Val341Ala) c.941T>C (p.Val314Ala) c.*1+27527A>G (n.*1+27527A>G) c.1043T>C (p.Val348Ala) c.974T>C (p.Val325Ala) n.1478+24001A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.4576652T>G | CA372818436 | SLC1A1,SPATA6L | c.1082T>G (p.Val361Gly) c.369T>G c.*782-22264A>C (n.*782-22264A>C) c.1151T>G (p.Val384Gly) c.1091T>G (p.Val364Gly) c.1022T>G (p.Val341Gly) c.941T>G (p.Val314Gly) c.*1+27527A>C (n.*1+27527A>C) c.1043T>G (p.Val348Gly) c.974T>G (p.Val325Gly) n.1478+24001A>C | |
9 | g.4576652T= | CA1829385524 | SLC1A1,SPATA6L | c.1082T= (p.Val361=) c.369T= c.*782-22264A= (n.*782-22264A=) c.1151T= (p.Val384=) c.1091T= (p.Val364=) c.1022T= (p.Val341=) c.941T= (p.Val314=) c.*1+27527A= (n.*1+27527A=) c.1043T= (p.Val348=) c.974T= (p.Val325=) n.1478+24001A= | |
9 | g.4576653T>A | CA463728576 | SLC1A1,SPATA6L | c.1083T>A (p.Val361=) c.370T>A c.*782-22265A>T (n.*782-22265A>T) c.1152T>A (p.Val384=) c.1092T>A (p.Val364=) c.1023T>A (p.Val341=) c.942T>A (p.Val314=) c.*1+27526A>T (n.*1+27526A>T) c.1044T>A (p.Val348=) c.975T>A (p.Val325=) n.1478+24000A>T | |
9 | g.4576653T>C | CA463728580 | SLC1A1,SPATA6L | c.1083T>C (p.Val361=) c.370T>C c.*782-22265A>G (n.*782-22265A>G) c.1152T>C (p.Val384=) c.1092T>C (p.Val364=) c.1023T>C (p.Val341=) c.942T>C (p.Val314=) c.*1+27526A>G (n.*1+27526A>G) c.1044T>C (p.Val348=) c.975T>C (p.Val325=) n.1478+24000A>G | gnomAD v4 |
9 | g.4576653T>G | CA463728578 | SLC1A1,SPATA6L | c.1083T>G (p.Val361=) c.370T>G c.*782-22265A>C (n.*782-22265A>C) c.1152T>G (p.Val384=) c.1092T>G (p.Val364=) c.1023T>G (p.Val341=) c.942T>G (p.Val314=) c.*1+27526A>C (n.*1+27526A>C) c.1044T>G (p.Val348=) c.975T>G (p.Val325=) n.1478+24000A>C | gnomAD v4 |
9 | g.4576654G>A | CA372818437 | SLC1A1,SPATA6L | c.1084G>A (p.Gly362Ser) c.371G>A c.*782-22266C>T (n.*782-22266C>T) c.1153G>A (p.Gly385Ser) c.1093G>A (p.Gly365Ser) c.1024G>A (p.Gly342Ser) c.943G>A (p.Gly315Ser) c.*1+27525C>T (n.*1+27525C>T) c.1045G>A (p.Gly349Ser) c.976G>A (p.Gly326Ser) n.1478+23999C>T | |
9 | g.4576654G>C | CA372818438 | SLC1A1,SPATA6L | c.1084G>C (p.Gly362Arg) c.371G>C c.*782-22266C>G (n.*782-22266C>G) c.1153G>C (p.Gly385Arg) c.1093G>C (p.Gly365Arg) c.1024G>C (p.Gly342Arg) c.943G>C (p.Gly315Arg) c.*1+27525C>G (n.*1+27525C>G) c.1045G>C (p.Gly349Arg) c.976G>C (p.Gly326Arg) n.1478+23999C>G | |
9 | g.4576654G>T | CA372818439 | SLC1A1,SPATA6L | c.1084G>T (p.Gly362Cys) c.371G>T c.*782-22266C>A (n.*782-22266C>A) c.1153G>T (p.Gly385Cys) c.1093G>T (p.Gly365Cys) c.1024G>T (p.Gly342Cys) c.943G>T (p.Gly315Cys) c.*1+27525C>A (n.*1+27525C>A) c.1045G>T (p.Gly349Cys) c.976G>T (p.Gly326Cys) n.1478+23999C>A | gnomAD v4 |
9 | g.4576655G>A | CA372818442 | SLC1A1,SPATA6L | c.1085G>A (p.Gly362Asp) c.372G>A c.*782-22267C>T (n.*782-22267C>T) c.1154G>A (p.Gly385Asp) c.1094G>A (p.Gly365Asp) c.1025G>A (p.Gly342Asp) c.944G>A (p.Gly315Asp) c.*1+27524C>T (n.*1+27524C>T) c.1046G>A (p.Gly349Asp) c.977G>A (p.Gly326Asp) n.1478+23998C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576655G>C | CA372818441 | SLC1A1,SPATA6L | c.1085G>C (p.Gly362Ala) c.372G>C c.*782-22267C>G (n.*782-22267C>G) c.1154G>C (p.Gly385Ala) c.1094G>C (p.Gly365Ala) c.1025G>C (p.Gly342Ala) c.944G>C (p.Gly315Ala) c.*1+27524C>G (n.*1+27524C>G) c.1046G>C (p.Gly349Ala) c.977G>C (p.Gly326Ala) n.1478+23998C>G | gnomAD v4 |
9 | g.4576655G= | CA1829385528 | SLC1A1,SPATA6L | c.1085G= (p.Gly362=) c.372G= c.*782-22267C= (n.*782-22267C=) c.1154G= (p.Gly385=) c.1094G= (p.Gly365=) c.1025G= (p.Gly342=) c.944G= (p.Gly315=) c.*1+27524C= (n.*1+27524C=) c.1046G= (p.Gly349=) c.977G= (p.Gly326=) n.1478+23998C= | |
9 | g.4576655G>T | CA372818440 | SLC1A1,SPATA6L | c.1085G>T (p.Gly362Val) c.372G>T c.*782-22267C>A (n.*782-22267C>A) c.1154G>T (p.Gly385Val) c.1094G>T (p.Gly365Val) c.1025G>T (p.Gly342Val) c.944G>T (p.Gly315Val) c.*1+27524C>A (n.*1+27524C>A) c.1046G>T (p.Gly349Val) c.977G>T (p.Gly326Val) n.1478+23998C>A | |
9 | g.4576656T>A | CA463728589 | SLC1A1,SPATA6L | c.1086T>A (p.Gly362=) c.373T>A c.*782-22268A>T (n.*782-22268A>T) c.1155T>A (p.Gly385=) c.1095T>A (p.Gly365=) c.1026T>A (p.Gly342=) c.945T>A (p.Gly315=) c.*1+27523A>T (n.*1+27523A>T) c.1047T>A (p.Gly349=) c.978T>A (p.Gly326=) n.1478+23997A>T | |
9 | g.4576656T>C | CA463728591 | SLC1A1,SPATA6L | c.1086T>C (p.Gly362=) c.373T>C c.*782-22268A>G (n.*782-22268A>G) c.1155T>C (p.Gly385=) c.1095T>C (p.Gly365=) c.1026T>C (p.Gly342=) c.945T>C (p.Gly315=) c.*1+27523A>G (n.*1+27523A>G) c.1047T>C (p.Gly349=) c.978T>C (p.Gly326=) n.1478+23997A>G | dbSNP gnomAD v4 |
9 | g.4576656T>G | CA463728592 | SLC1A1,SPATA6L | c.1086T>G (p.Gly362=) c.373T>G c.*782-22268A>C (n.*782-22268A>C) c.1155T>G (p.Gly385=) c.1095T>G (p.Gly365=) c.1026T>G (p.Gly342=) c.945T>G (p.Gly315=) c.*1+27523A>C (n.*1+27523A>C) c.1047T>G (p.Gly349=) c.978T>G (p.Gly326=) n.1478+23997A>C | |
9 | g.4576656T= | CA1829385530 | SLC1A1,SPATA6L | c.1086T= (p.Gly362=) c.373T= c.*782-22268A= (n.*782-22268A=) c.1155T= (p.Gly385=) c.1095T= (p.Gly365=) c.1026T= (p.Gly342=) c.945T= (p.Gly315=) c.*1+27523A= (n.*1+27523A=) c.1047T= (p.Gly349=) c.978T= (p.Gly326=) n.1478+23997A= | |
9 | g.4576657G>A | CA4969228 | SLC1A1,SPATA6L | c.1087G>A (p.Ala363Thr) c.374G>A c.*782-22269C>T (n.*782-22269C>T) c.1156G>A (p.Ala386Thr) c.1096G>A (p.Ala366Thr) c.1027G>A (p.Ala343Thr) c.946G>A (p.Ala316Thr) c.*1+27522C>T (n.*1+27522C>T) c.1048G>A (p.Ala350Thr) c.979G>A (p.Ala327Thr) n.1478+23996C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576657G>C | CA372818443 | SLC1A1,SPATA6L | c.1087G>C (p.Ala363Pro) c.374G>C c.*782-22269C>G (n.*782-22269C>G) c.1156G>C (p.Ala386Pro) c.1096G>C (p.Ala366Pro) c.1027G>C (p.Ala343Pro) c.946G>C (p.Ala316Pro) c.*1+27522C>G (n.*1+27522C>G) c.1048G>C (p.Ala350Pro) c.979G>C (p.Ala327Pro) n.1478+23996C>G | |
9 | g.4576657G= | CA1829385534 | SLC1A1,SPATA6L | c.1087G= (p.Ala363=) c.374G= c.*782-22269C= (n.*782-22269C=) c.1156G= (p.Ala386=) c.1096G= (p.Ala366=) c.1027G= (p.Ala343=) c.946G= (p.Ala316=) c.*1+27522C= (n.*1+27522C=) c.1048G= (p.Ala350=) c.979G= (p.Ala327=) n.1478+23996C= | |
9 | g.4576657G>T | CA372818444 | SLC1A1,SPATA6L | c.1087G>T (p.Ala363Ser) c.374G>T c.*782-22269C>A (n.*782-22269C>A) c.1156G>T (p.Ala386Ser) c.1096G>T (p.Ala366Ser) c.1027G>T (p.Ala343Ser) c.946G>T (p.Ala316Ser) c.*1+27522C>A (n.*1+27522C>A) c.1048G>T (p.Ala350Ser) c.979G>T (p.Ala327Ser) n.1478+23996C>A | |
9 | g.4576658C>A | CA372818445 | SLC1A1,SPATA6L | c.1088C>A (p.Ala363Glu) c.375C>A c.*782-22270G>T (n.*782-22270G>T) c.1157C>A (p.Ala386Glu) c.1097C>A (p.Ala366Glu) c.1028C>A (p.Ala343Glu) c.947C>A (p.Ala316Glu) c.*1+27521G>T (n.*1+27521G>T) c.1049C>A (p.Ala350Glu) c.980C>A (p.Ala327Glu) n.1478+23995G>T | |
9 | g.4576658C>G | CA372818446 | SLC1A1,SPATA6L | c.1088C>G (p.Ala363Gly) c.375C>G c.*782-22270G>C (n.*782-22270G>C) c.1157C>G (p.Ala386Gly) c.1097C>G (p.Ala366Gly) c.1028C>G (p.Ala343Gly) c.947C>G (p.Ala316Gly) c.*1+27521G>C (n.*1+27521G>C) c.1049C>G (p.Ala350Gly) c.980C>G (p.Ala327Gly) n.1478+23995G>C | |
9 | g.4576658C>T | CA372818447 | SLC1A1,SPATA6L | c.1088C>T (p.Ala363Val) c.375C>T c.*782-22270G>A (n.*782-22270G>A) c.1157C>T (p.Ala386Val) c.1097C>T (p.Ala366Val) c.1028C>T (p.Ala343Val) c.947C>T (p.Ala316Val) c.*1+27521G>A (n.*1+27521G>A) c.1049C>T (p.Ala350Val) c.980C>T (p.Ala327Val) n.1478+23995G>A | |
9 | g.4576659A= | CA1829385539 | SLC1A1,SPATA6L | c.1089A= (p.Ala363=) c.376A= c.*782-22271T= (n.*782-22271T=) c.1158A= (p.Ala386=) c.1098A= (p.Ala366=) c.1029A= (p.Ala343=) c.948A= (p.Ala316=) c.*1+27520T= (n.*1+27520T=) c.1050A= (p.Ala350=) c.981A= (p.Ala327=) n.1478+23994T= | |
9 | g.4576659A>C | CA463728593 | SLC1A1,SPATA6L | c.1089A>C (p.Ala363=) c.376A>C c.*782-22271T>G (n.*782-22271T>G) c.1158A>C (p.Ala386=) c.1098A>C (p.Ala366=) c.1029A>C (p.Ala343=) c.948A>C (p.Ala316=) c.*1+27520T>G (n.*1+27520T>G) c.1050A>C (p.Ala350=) c.981A>C (p.Ala327=) n.1478+23994T>G | dbSNP |
9 | g.4576659A>G | CA463728594 | SLC1A1,SPATA6L | c.1089A>G (p.Ala363=) c.376A>G c.*782-22271T>C (n.*782-22271T>C) c.1158A>G (p.Ala386=) c.1098A>G (p.Ala366=) c.1029A>G (p.Ala343=) c.948A>G (p.Ala316=) c.*1+27520T>C (n.*1+27520T>C) c.1050A>G (p.Ala350=) c.981A>G (p.Ala327=) n.1478+23994T>C | |
9 | g.4576659A>T | CA463728595 | SLC1A1,SPATA6L | c.1089A>T (p.Ala363=) c.376A>T c.*782-22271T>A (n.*782-22271T>A) c.1158A>T (p.Ala386=) c.1098A>T (p.Ala366=) c.1029A>T (p.Ala343=) c.948A>T (p.Ala316=) c.*1+27520T>A (n.*1+27520T>A) c.1050A>T (p.Ala350=) c.981A>T (p.Ala327=) n.1478+23994T>A | |
9 | g.4576660A>C | CA372818448 | SLC1A1,SPATA6L | c.1090A>C (p.Thr364Pro) c.377A>C c.*782-22272T>G (n.*782-22272T>G) c.1159A>C (p.Thr387Pro) c.1099A>C (p.Thr367Pro) c.1030A>C (p.Thr344Pro) c.949A>C (p.Thr317Pro) c.*1+27519T>G (n.*1+27519T>G) c.1051A>C (p.Thr351Pro) c.982A>C (p.Thr328Pro) n.1478+23993T>G | |
9 | g.4576660A>G | CA372818449 | SLC1A1,SPATA6L | c.1090A>G (p.Thr364Ala) c.377A>G c.*782-22272T>C (n.*782-22272T>C) c.1159A>G (p.Thr387Ala) c.1099A>G (p.Thr367Ala) c.1030A>G (p.Thr344Ala) c.949A>G (p.Thr317Ala) c.*1+27519T>C (n.*1+27519T>C) c.1051A>G (p.Thr351Ala) c.982A>G (p.Thr328Ala) n.1478+23993T>C | |
9 | g.4576660A>T | CA372818450 | SLC1A1,SPATA6L | c.1090A>T (p.Thr364Ser) c.377A>T c.*782-22272T>A (n.*782-22272T>A) c.1159A>T (p.Thr387Ser) c.1099A>T (p.Thr367Ser) c.1030A>T (p.Thr344Ser) c.949A>T (p.Thr317Ser) c.*1+27519T>A (n.*1+27519T>A) c.1051A>T (p.Thr351Ser) c.982A>T (p.Thr328Ser) n.1478+23993T>A | |
9 | g.4576661C>A | CA372818451 | SLC1A1,SPATA6L | c.1091C>A (p.Thr364Lys) c.378C>A c.*782-22273G>T (n.*782-22273G>T) c.1160C>A (p.Thr387Lys) c.1100C>A (p.Thr367Lys) c.1031C>A (p.Thr344Lys) c.950C>A (p.Thr317Lys) c.*1+27518G>T (n.*1+27518G>T) c.1052C>A (p.Thr351Lys) c.983C>A (p.Thr328Lys) n.1478+23992G>T | |
9 | g.4576661C= | CA1829385542 | SLC1A1,SPATA6L | c.1091C= (p.Thr364=) c.378C= c.*782-22273G= (n.*782-22273G=) c.1160C= (p.Thr387=) c.1100C= (p.Thr367=) c.1031C= (p.Thr344=) c.950C= (p.Thr317=) c.*1+27518G= (n.*1+27518G=) c.1052C= (p.Thr351=) c.983C= (p.Thr328=) n.1478+23992G= | |
9 | g.4576661C>G | CA372818452 | SLC1A1,SPATA6L | c.1091C>G (p.Thr364Arg) c.378C>G c.*782-22273G>C (n.*782-22273G>C) c.1160C>G (p.Thr387Arg) c.1100C>G (p.Thr367Arg) c.1031C>G (p.Thr344Arg) c.950C>G (p.Thr317Arg) c.*1+27518G>C (n.*1+27518G>C) c.1052C>G (p.Thr351Arg) c.983C>G (p.Thr328Arg) n.1478+23992G>C | |
9 | g.4576661C>T | CA372818453 | SLC1A1,SPATA6L | c.1091C>T (p.Thr364Ile) c.378C>T c.*782-22273G>A (n.*782-22273G>A) c.1160C>T (p.Thr387Ile) c.1100C>T (p.Thr367Ile) c.1031C>T (p.Thr344Ile) c.950C>T (p.Thr317Ile) c.*1+27518G>A (n.*1+27518G>A) c.1052C>T (p.Thr351Ile) c.983C>T (p.Thr328Ile) n.1478+23992G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576662A= | CA1829385547 | SLC1A1,SPATA6L | c.1092A= (p.Thr364=) c.379A= c.*782-22274T= (n.*782-22274T=) c.1161A= (p.Thr387=) c.1101A= (p.Thr367=) c.1032A= (p.Thr344=) c.951A= (p.Thr317=) c.*1+27517T= (n.*1+27517T=) c.1053A= (p.Thr351=) c.984A= (p.Thr328=) n.1478+23991T= | |
9 | g.4576662A>C | CA4969229 | SLC1A1,SPATA6L | c.1092A>C (p.Thr364=) c.379A>C c.*782-22274T>G (n.*782-22274T>G) c.1161A>C (p.Thr387=) c.1101A>C (p.Thr367=) c.1032A>C (p.Thr344=) c.951A>C (p.Thr317=) c.*1+27517T>G (n.*1+27517T>G) c.1053A>C (p.Thr351=) c.984A>C (p.Thr328=) n.1478+23991T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576662A>G | CA188358986 | SLC1A1,SPATA6L | c.1092A>G (p.Thr364=) c.379A>G c.*782-22274T>C (n.*782-22274T>C) c.1161A>G (p.Thr387=) c.1101A>G (p.Thr367=) c.1032A>G (p.Thr344=) c.951A>G (p.Thr317=) c.*1+27517T>C (n.*1+27517T>C) c.1053A>G (p.Thr351=) c.984A>G (p.Thr328=) n.1478+23991T>C | dbSNP gnomAD v4 |
9 | g.4576662A>T | CA463728596 | SLC1A1,SPATA6L | c.1092A>T (p.Thr364=) c.379A>T c.*782-22274T>A (n.*782-22274T>A) c.1161A>T (p.Thr387=) c.1101A>T (p.Thr367=) c.1032A>T (p.Thr344=) c.951A>T (p.Thr317=) c.*1+27517T>A (n.*1+27517T>A) c.1053A>T (p.Thr351=) c.984A>T (p.Thr328=) n.1478+23991T>A | |
9 | g.4576663A>C | CA372818458 | SLC1A1,SPATA6L | c.1093A>C (p.Ile365Leu) c.380A>C c.*782-22275T>G (n.*782-22275T>G) c.1162A>C (p.Ile388Leu) c.1102A>C (p.Ile368Leu) c.1033A>C (p.Ile345Leu) c.952A>C (p.Ile318Leu) c.*1+27516T>G (n.*1+27516T>G) c.1054A>C (p.Ile352Leu) c.985A>C (p.Ile329Leu) n.1478+23990T>G | |
9 | g.4576663A>G | CA372818456 | SLC1A1,SPATA6L | c.1093A>G (p.Ile365Val) c.380A>G c.*782-22275T>C (n.*782-22275T>C) c.1162A>G (p.Ile388Val) c.1102A>G (p.Ile368Val) c.1033A>G (p.Ile345Val) c.952A>G (p.Ile318Val) c.*1+27516T>C (n.*1+27516T>C) c.1054A>G (p.Ile352Val) c.985A>G (p.Ile329Val) n.1478+23990T>C | |
9 | g.4576663A>T | CA372818454 | SLC1A1,SPATA6L | c.1093A>T (p.Ile365Phe) c.380A>T c.*782-22275T>A (n.*782-22275T>A) c.1162A>T (p.Ile388Phe) c.1102A>T (p.Ile368Phe) c.1033A>T (p.Ile345Phe) c.952A>T (p.Ile318Phe) c.*1+27516T>A (n.*1+27516T>A) c.1054A>T (p.Ile352Phe) c.985A>T (p.Ile329Phe) n.1478+23990T>A | |
9 | g.4576664T>A | CA4969230 | SLC1A1,SPATA6L | c.1094T>A (p.Ile365Asn) c.381T>A c.*782-22276A>T (n.*782-22276A>T) c.1163T>A (p.Ile388Asn) c.1103T>A (p.Ile368Asn) c.1034T>A (p.Ile345Asn) c.953T>A (p.Ile318Asn) c.*1+27515A>T (n.*1+27515A>T) c.1055T>A (p.Ile352Asn) c.986T>A (p.Ile329Asn) n.1478+23989A>T | dbSNP ExAC gnomAD v2 |
9 | g.4576664T>C | CA372818462 | SLC1A1,SPATA6L | c.1094T>C (p.Ile365Thr) c.381T>C c.*782-22276A>G (n.*782-22276A>G) c.1163T>C (p.Ile388Thr) c.1103T>C (p.Ile368Thr) c.1034T>C (p.Ile345Thr) c.953T>C (p.Ile318Thr) c.*1+27515A>G (n.*1+27515A>G) c.1055T>C (p.Ile352Thr) c.986T>C (p.Ile329Thr) n.1478+23989A>G | dbSNP |
9 | g.4576664T>G | CA372818464 | SLC1A1,SPATA6L | c.1094T>G (p.Ile365Ser) c.381T>G c.*782-22276A>C (n.*782-22276A>C) c.1163T>G (p.Ile388Ser) c.1103T>G (p.Ile368Ser) c.1034T>G (p.Ile345Ser) c.953T>G (p.Ile318Ser) c.*1+27515A>C (n.*1+27515A>C) c.1055T>G (p.Ile352Ser) c.986T>G (p.Ile329Ser) n.1478+23989A>C | gnomAD v4 |
9 | g.4576664T= | CA1829385555 | SLC1A1,SPATA6L | c.1094T= (p.Ile365=) c.381T= c.*782-22276A= (n.*782-22276A=) c.1163T= (p.Ile388=) c.1103T= (p.Ile368=) c.1034T= (p.Ile345=) c.953T= (p.Ile318=) c.*1+27515A= (n.*1+27515A=) c.1055T= (p.Ile352=) c.986T= (p.Ile329=) n.1478+23989A= | |
9 | g.4576665C>A | CA463728597 | SLC1A1,SPATA6L | c.1095C>A (p.Ile365=) c.382C>A c.*782-22277G>T (n.*782-22277G>T) c.1164C>A (p.Ile388=) c.1104C>A (p.Ile368=) c.1035C>A (p.Ile345=) c.954C>A (p.Ile318=) c.*1+27514G>T (n.*1+27514G>T) c.1056C>A (p.Ile352=) c.987C>A (p.Ile329=) n.1478+23988G>T | |
9 | g.4576665C>G | CA372818466 | SLC1A1,SPATA6L | c.1095C>G (p.Ile365Met) c.382C>G c.*782-22277G>C (n.*782-22277G>C) c.1164C>G (p.Ile388Met) c.1104C>G (p.Ile368Met) c.1035C>G (p.Ile345Met) c.954C>G (p.Ile318Met) c.*1+27514G>C (n.*1+27514G>C) c.1056C>G (p.Ile352Met) c.987C>G (p.Ile329Met) n.1478+23988G>C | |
9 | g.4576665C>T | CA463728598 | SLC1A1,SPATA6L | c.1095C>T (p.Ile365=) c.382C>T c.*782-22277G>A (n.*782-22277G>A) c.1164C>T (p.Ile388=) c.1104C>T (p.Ile368=) c.1035C>T (p.Ile345=) c.954C>T (p.Ile318=) c.*1+27514G>A (n.*1+27514G>A) c.1056C>T (p.Ile352=) c.987C>T (p.Ile329=) n.1478+23988G>A | |
9 | g.4576666A>C | CA372818470 | SLC1A1,SPATA6L | c.1096A>C (p.Asn366His) c.383A>C c.*782-22278T>G (n.*782-22278T>G) c.1165A>C (p.Asn389His) c.1105A>C (p.Asn369His) c.1036A>C (p.Asn346His) c.955A>C (p.Asn319His) c.*1+27513T>G (n.*1+27513T>G) c.1057A>C (p.Asn353His) c.988A>C (p.Asn330His) n.1478+23987T>G | |
9 | g.4576666A>G | CA372818471 | SLC1A1,SPATA6L | c.1096A>G (p.Asn366Asp) c.383A>G c.*782-22278T>C (n.*782-22278T>C) c.1165A>G (p.Asn389Asp) c.1105A>G (p.Asn369Asp) c.1036A>G (p.Asn346Asp) c.955A>G (p.Asn319Asp) c.*1+27513T>C (n.*1+27513T>C) c.1057A>G (p.Asn353Asp) c.988A>G (p.Asn330Asp) n.1478+23987T>C | |
9 | g.4576666A>T | CA372818474 | SLC1A1,SPATA6L | c.1096A>T (p.Asn366Tyr) c.383A>T c.*782-22278T>A (n.*782-22278T>A) c.1165A>T (p.Asn389Tyr) c.1105A>T (p.Asn369Tyr) c.1036A>T (p.Asn346Tyr) c.955A>T (p.Asn319Tyr) c.*1+27513T>A (n.*1+27513T>A) c.1057A>T (p.Asn353Tyr) c.988A>T (p.Asn330Tyr) n.1478+23987T>A | |
9 | g.4576667A= | CA1829385558 | SLC1A1,SPATA6L | c.1097A= (p.Asn366=) c.384A= c.*782-22279T= (n.*782-22279T=) c.1166A= (p.Asn389=) c.1106A= (p.Asn369=) c.1037A= (p.Asn346=) c.956A= (p.Asn319=) c.*1+27512T= (n.*1+27512T=) c.1058A= (p.Asn353=) c.989A= (p.Asn330=) n.1478+23986T= | |
9 | g.4576667A>C | CA372818480 | SLC1A1,SPATA6L | c.1097A>C (p.Asn366Thr) c.384A>C c.*782-22279T>G (n.*782-22279T>G) c.1166A>C (p.Asn389Thr) c.1106A>C (p.Asn369Thr) c.1037A>C (p.Asn346Thr) c.956A>C (p.Asn319Thr) c.*1+27512T>G (n.*1+27512T>G) c.1058A>C (p.Asn353Thr) c.989A>C (p.Asn330Thr) n.1478+23986T>G | ClinVar dbSNP |
9 | g.4576667A>G | CA372818476 | SLC1A1,SPATA6L | c.1097A>G (p.Asn366Ser) c.384A>G c.*782-22279T>C (n.*782-22279T>C) c.1166A>G (p.Asn389Ser) c.1106A>G (p.Asn369Ser) c.1037A>G (p.Asn346Ser) c.956A>G (p.Asn319Ser) c.*1+27512T>C (n.*1+27512T>C) c.1058A>G (p.Asn353Ser) c.989A>G (p.Asn330Ser) n.1478+23986T>C | gnomAD v4 |
9 | g.4576667A>T | CA372818478 | SLC1A1,SPATA6L | c.1097A>T (p.Asn366Ile) c.384A>T c.*782-22279T>A (n.*782-22279T>A) c.1166A>T (p.Asn389Ile) c.1106A>T (p.Asn369Ile) c.1037A>T (p.Asn346Ile) c.956A>T (p.Asn319Ile) c.*1+27512T>A (n.*1+27512T>A) c.1058A>T (p.Asn353Ile) c.989A>T (p.Asn330Ile) n.1478+23986T>A | |
9 | g.4576668C>A | CA372818481 | SLC1A1,SPATA6L | c.1098C>A (p.Asn366Lys) c.385C>A c.*782-22280G>T (n.*782-22280G>T) c.1167C>A (p.Asn389Lys) c.1107C>A (p.Asn369Lys) c.1038C>A (p.Asn346Lys) c.957C>A (p.Asn319Lys) c.*1+27511G>T (n.*1+27511G>T) c.1059C>A (p.Asn353Lys) c.990C>A (p.Asn330Lys) n.1478+23985G>T | |
9 | g.4576668C= | CA1829385561 | SLC1A1,SPATA6L | c.1098C= (p.Asn366=) c.385C= c.*782-22280G= (n.*782-22280G=) c.1167C= (p.Asn389=) c.1107C= (p.Asn369=) c.1038C= (p.Asn346=) c.957C= (p.Asn319=) c.*1+27511G= (n.*1+27511G=) c.1059C= (p.Asn353=) c.990C= (p.Asn330=) n.1478+23985G= | |
9 | g.4576668C>G | CA372818483 | SLC1A1,SPATA6L | c.1098C>G (p.Asn366Lys) c.385C>G c.*782-22280G>C (n.*782-22280G>C) c.1167C>G (p.Asn389Lys) c.1107C>G (p.Asn369Lys) c.1038C>G (p.Asn346Lys) c.957C>G (p.Asn319Lys) c.*1+27511G>C (n.*1+27511G>C) c.1059C>G (p.Asn353Lys) c.990C>G (p.Asn330Lys) n.1478+23985G>C | |
9 | g.4576668C>T | CA463728599 | SLC1A1,SPATA6L | c.1098C>T (p.Asn366=) c.385C>T c.*782-22280G>A (n.*782-22280G>A) c.1167C>T (p.Asn389=) c.1107C>T (p.Asn369=) c.1038C>T (p.Asn346=) c.957C>T (p.Asn319=) c.*1+27511G>A (n.*1+27511G>A) c.1059C>T (p.Asn353=) c.990C>T (p.Asn330=) n.1478+23985G>A | dbSNP |
9 | g.4576669A= | CA1829385562 | SLC1A1,SPATA6L | c.1099A= (p.Met367=) c.386A= c.*782-22281T= (n.*782-22281T=) c.1168A= (p.Met390=) c.1108A= (p.Met370=) c.1039A= (p.Met347=) c.958A= (p.Met320=) c.*1+27510T= (n.*1+27510T=) c.1060A= (p.Met354=) c.991A= (p.Met331=) n.1478+23984T= | |
9 | g.4576669A>C | CA372818486 | SLC1A1,SPATA6L | c.1099A>C (p.Met367Leu) c.386A>C c.*782-22281T>G (n.*782-22281T>G) c.1168A>C (p.Met390Leu) c.1108A>C (p.Met370Leu) c.1039A>C (p.Met347Leu) c.958A>C (p.Met320Leu) c.*1+27510T>G (n.*1+27510T>G) c.1060A>C (p.Met354Leu) c.991A>C (p.Met331Leu) n.1478+23984T>G | |
9 | g.4576669A>G | CA372818488 | SLC1A1,SPATA6L | c.1099A>G (p.Met367Val) c.386A>G c.*782-22281T>C (n.*782-22281T>C) c.1168A>G (p.Met390Val) c.1108A>G (p.Met370Val) c.1039A>G (p.Met347Val) c.958A>G (p.Met320Val) c.*1+27510T>C (n.*1+27510T>C) c.1060A>G (p.Met354Val) c.991A>G (p.Met331Val) n.1478+23984T>C | dbSNP gnomAD v4 |
9 | g.4576669A>T | CA372818491 | SLC1A1,SPATA6L | c.1099A>T (p.Met367Leu) c.386A>T c.*782-22281T>A (n.*782-22281T>A) c.1168A>T (p.Met390Leu) c.1108A>T (p.Met370Leu) c.1039A>T (p.Met347Leu) c.958A>T (p.Met320Leu) c.*1+27510T>A (n.*1+27510T>A) c.1060A>T (p.Met354Leu) c.991A>T (p.Met331Leu) n.1478+23984T>A | |
9 | g.4576670T>A | CA372818496 | SLC1A1,SPATA6L | c.1100T>A (p.Met367Lys) c.387T>A c.*782-22282A>T (n.*782-22282A>T) c.1169T>A (p.Met390Lys) c.1109T>A (p.Met370Lys) c.1040T>A (p.Met347Lys) c.959T>A (p.Met320Lys) c.*1+27509A>T (n.*1+27509A>T) c.1061T>A (p.Met354Lys) c.992T>A (p.Met331Lys) n.1478+23983A>T | |
9 | g.4576670T>C | CA4969231 | SLC1A1,SPATA6L | c.1100T>C (p.Met367Thr) c.387T>C c.*782-22282A>G (n.*782-22282A>G) c.1169T>C (p.Met390Thr) c.1109T>C (p.Met370Thr) c.1040T>C (p.Met347Thr) c.959T>C (p.Met320Thr) c.*1+27509A>G (n.*1+27509A>G) c.1061T>C (p.Met354Thr) c.992T>C (p.Met331Thr) n.1478+23983A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576670T>G | CA372818498 | SLC1A1,SPATA6L | c.1100T>G (p.Met367Arg) c.387T>G c.*782-22282A>C (n.*782-22282A>C) c.1169T>G (p.Met390Arg) c.1109T>G (p.Met370Arg) c.1040T>G (p.Met347Arg) c.959T>G (p.Met320Arg) c.*1+27509A>C (n.*1+27509A>C) c.1061T>G (p.Met354Arg) c.992T>G (p.Met331Arg) n.1478+23983A>C | |
9 | g.4576670T= | CA1829385564 | SLC1A1,SPATA6L | c.1100T= (p.Met367=) c.387T= c.*782-22282A= (n.*782-22282A=) c.1169T= (p.Met390=) c.1109T= (p.Met370=) c.1040T= (p.Met347=) c.959T= (p.Met320=) c.*1+27509A= (n.*1+27509A=) c.1061T= (p.Met354=) c.992T= (p.Met331=) n.1478+23983A= | |
9 | g.4576670dup | CA2689285197 | SLC1A1,SPATA6L | c.1100dup (p.Met367IlefsTer8) c.387dup c.*782-22282dup (n.*782-22282dup) c.1169dup (p.Met390IlefsTer8) c.1109dup (p.Met370IlefsTer8) c.1040dup (p.Met347IlefsTer8) c.959dup (p.Met320IlefsTer8) c.*1+27509dup (n.*1+27509dup) c.1061dup (p.Met354IlefsTer8) c.992dup (p.Met331IlefsTer8) n.1478+23983dup | gnomAD v4 |
9 | g.4576671G>A | CA372818502 | SLC1A1,SPATA6L | c.1101G>A (p.Met367Ile) c.388G>A c.*782-22283C>T (n.*782-22283C>T) c.1170G>A (p.Met390Ile) c.1110G>A (p.Met370Ile) c.1041G>A (p.Met347Ile) c.960G>A (p.Met320Ile) c.*1+27508C>T (n.*1+27508C>T) c.1062G>A (p.Met354Ile) c.993G>A (p.Met331Ile) n.1478+23982C>T | gnomAD v4 |
9 | g.4576671G>C | CA372818504 | SLC1A1,SPATA6L | c.1101G>C (p.Met367Ile) c.388G>C c.*782-22283C>G (n.*782-22283C>G) c.1170G>C (p.Met390Ile) c.1110G>C (p.Met370Ile) c.1041G>C (p.Met347Ile) c.960G>C (p.Met320Ile) c.*1+27508C>G (n.*1+27508C>G) c.1062G>C (p.Met354Ile) c.993G>C (p.Met331Ile) n.1478+23982C>G | |
9 | g.4576671G>T | CA372818506 | SLC1A1,SPATA6L | c.1101G>T (p.Met367Ile) c.388G>T c.*782-22283C>A (n.*782-22283C>A) c.1170G>T (p.Met390Ile) c.1110G>T (p.Met370Ile) c.1041G>T (p.Met347Ile) c.960G>T (p.Met320Ile) c.*1+27508C>A (n.*1+27508C>A) c.1062G>T (p.Met354Ile) c.993G>T (p.Met331Ile) n.1478+23982C>A | gnomAD v4 |
9 | g.4576672G>A | CA372818510 | SLC1A1,SPATA6L | c.1102G>A (p.Asp368Asn) c.389G>A c.*782-22284C>T (n.*782-22284C>T) c.1171G>A (p.Asp391Asn) c.1111G>A (p.Asp371Asn) c.1042G>A (p.Asp348Asn) c.961G>A (p.Asp321Asn) c.*1+27507C>T (n.*1+27507C>T) c.1063G>A (p.Asp355Asn) c.994G>A (p.Asp332Asn) n.1478+23981C>T | gnomAD v4 |
9 | g.4576672G>C | CA372818512 | SLC1A1,SPATA6L | c.1102G>C (p.Asp368His) c.389G>C c.*782-22284C>G (n.*782-22284C>G) c.1171G>C (p.Asp391His) c.1111G>C (p.Asp371His) c.1042G>C (p.Asp348His) c.961G>C (p.Asp321His) c.*1+27507C>G (n.*1+27507C>G) c.1063G>C (p.Asp355His) c.994G>C (p.Asp332His) n.1478+23981C>G | dbSNP |
9 | g.4576672G= | CA1829385567 | SLC1A1,SPATA6L | c.1102G= (p.Asp368=) c.389G= c.*782-22284C= (n.*782-22284C=) c.1171G= (p.Asp391=) c.1111G= (p.Asp371=) c.1042G= (p.Asp348=) c.961G= (p.Asp321=) c.*1+27507C= (n.*1+27507C=) c.1063G= (p.Asp355=) c.994G= (p.Asp332=) n.1478+23981C= | |
9 | g.4576672G>T | CA372818514 | SLC1A1,SPATA6L | c.1102G>T (p.Asp368Tyr) c.389G>T c.*782-22284C>A (n.*782-22284C>A) c.1171G>T (p.Asp391Tyr) c.1111G>T (p.Asp371Tyr) c.1042G>T (p.Asp348Tyr) c.961G>T (p.Asp321Tyr) c.*1+27507C>A (n.*1+27507C>A) c.1063G>T (p.Asp355Tyr) c.994G>T (p.Asp332Tyr) n.1478+23981C>A | |
9 | g.4576673A>C | CA372818515 | SLC1A1,SPATA6L | c.1103A>C (p.Asp368Ala) c.390A>C c.*782-22285T>G (n.*782-22285T>G) c.1172A>C (p.Asp391Ala) c.1112A>C (p.Asp371Ala) c.1043A>C (p.Asp348Ala) c.962A>C (p.Asp321Ala) c.*1+27506T>G (n.*1+27506T>G) c.1064A>C (p.Asp355Ala) c.995A>C (p.Asp332Ala) n.1478+23980T>G | |
9 | g.4576673A>G | CA372818516 | SLC1A1,SPATA6L | c.1103A>G (p.Asp368Gly) c.390A>G c.*782-22285T>C (n.*782-22285T>C) c.1172A>G (p.Asp391Gly) c.1112A>G (p.Asp371Gly) c.1043A>G (p.Asp348Gly) c.962A>G (p.Asp321Gly) c.*1+27506T>C (n.*1+27506T>C) c.1064A>G (p.Asp355Gly) c.995A>G (p.Asp332Gly) n.1478+23980T>C | gnomAD v4 |
9 | g.4576673A>T | CA372818518 | SLC1A1,SPATA6L | c.1103A>T (p.Asp368Val) c.390A>T c.*782-22285T>A (n.*782-22285T>A) c.1172A>T (p.Asp391Val) c.1112A>T (p.Asp371Val) c.1043A>T (p.Asp348Val) c.962A>T (p.Asp321Val) c.*1+27506T>A (n.*1+27506T>A) c.1064A>T (p.Asp355Val) c.995A>T (p.Asp332Val) n.1478+23980T>A | |
9 | g.4576674T>A | CA372818520 | SLC1A1,SPATA6L | c.1104T>A (p.Asp368Glu) c.391T>A c.*782-22286A>T (n.*782-22286A>T) c.1173T>A (p.Asp391Glu) c.1113T>A (p.Asp371Glu) c.1044T>A (p.Asp348Glu) c.963T>A (p.Asp321Glu) c.*1+27505A>T (n.*1+27505A>T) c.1065T>A (p.Asp355Glu) c.996T>A (p.Asp332Glu) n.1478+23979A>T | |
9 | g.4576674T>C | CA463728601 | SLC1A1,SPATA6L | c.1104T>C (p.Asp368=) c.391T>C c.*782-22286A>G (n.*782-22286A>G) c.1173T>C (p.Asp391=) c.1113T>C (p.Asp371=) c.1044T>C (p.Asp348=) c.963T>C (p.Asp321=) c.*1+27505A>G (n.*1+27505A>G) c.1065T>C (p.Asp355=) c.996T>C (p.Asp332=) n.1478+23979A>G | |
9 | g.4576674T>G | CA372818522 | SLC1A1,SPATA6L | c.1104T>G (p.Asp368Glu) c.391T>G c.*782-22286A>C (n.*782-22286A>C) c.1173T>G (p.Asp391Glu) c.1113T>G (p.Asp371Glu) c.1044T>G (p.Asp348Glu) c.963T>G (p.Asp321Glu) c.*1+27505A>C (n.*1+27505A>C) c.1065T>G (p.Asp355Glu) c.996T>G (p.Asp332Glu) n.1478+23979A>C | |
9 | g.4576675G>A | CA372818525 | SLC1A1,SPATA6L | c.1105G>A (p.Gly369Arg) c.392G>A c.*782-22287C>T (n.*782-22287C>T) c.1174G>A (p.Gly392Arg) c.1114G>A (p.Gly372Arg) c.1045G>A (p.Gly349Arg) c.964G>A (p.Gly322Arg) c.*1+27504C>T (n.*1+27504C>T) c.1066G>A (p.Gly356Arg) c.997G>A (p.Gly333Arg) n.1478+23978C>T | |
9 | g.4576675G>C | CA372818529 | SLC1A1,SPATA6L | c.1105G>C (p.Gly369Arg) c.392G>C c.*782-22287C>G (n.*782-22287C>G) c.1174G>C (p.Gly392Arg) c.1114G>C (p.Gly372Arg) c.1045G>C (p.Gly349Arg) c.964G>C (p.Gly322Arg) c.*1+27504C>G (n.*1+27504C>G) c.1066G>C (p.Gly356Arg) c.997G>C (p.Gly333Arg) n.1478+23978C>G | |
9 | g.4576675G>T | CA372818527 | SLC1A1,SPATA6L | c.1105G>T (p.Gly369Trp) c.392G>T c.*782-22287C>A (n.*782-22287C>A) c.1174G>T (p.Gly392Trp) c.1114G>T (p.Gly372Trp) c.1045G>T (p.Gly349Trp) c.964G>T (p.Gly322Trp) c.*1+27504C>A (n.*1+27504C>A) c.1066G>T (p.Gly356Trp) c.997G>T (p.Gly333Trp) n.1478+23978C>A | gnomAD v4 |
9 | g.4576676G>A | CA372818532 | SLC1A1,SPATA6L | c.1106G>A (p.Gly369Glu) c.393G>A c.*782-22288C>T (n.*782-22288C>T) c.1175G>A (p.Gly392Glu) c.1115G>A (p.Gly372Glu) c.1046G>A (p.Gly349Glu) c.965G>A (p.Gly322Glu) c.*1+27503C>T (n.*1+27503C>T) c.1067G>A (p.Gly356Glu) c.998G>A (p.Gly333Glu) n.1478+23977C>T | |
9 | g.4576676G>C | CA372818534 | SLC1A1,SPATA6L | c.1106G>C (p.Gly369Ala) c.393G>C c.*782-22288C>G (n.*782-22288C>G) c.1175G>C (p.Gly392Ala) c.1115G>C (p.Gly372Ala) c.1046G>C (p.Gly349Ala) c.965G>C (p.Gly322Ala) c.*1+27503C>G (n.*1+27503C>G) c.1067G>C (p.Gly356Ala) c.998G>C (p.Gly333Ala) n.1478+23977C>G | |
9 | g.4576676G>T | CA372818536 | SLC1A1,SPATA6L | c.1106G>T (p.Gly369Val) c.393G>T c.*782-22288C>A (n.*782-22288C>A) c.1175G>T (p.Gly392Val) c.1115G>T (p.Gly372Val) c.1046G>T (p.Gly349Val) c.965G>T (p.Gly322Val) c.*1+27503C>A (n.*1+27503C>A) c.1067G>T (p.Gly356Val) c.998G>T (p.Gly333Val) n.1478+23977C>A | |
9 | g.4576677G>A | CA463728602 | SLC1A1,SPATA6L | c.1107G>A (p.Gly369=) c.394G>A c.*782-22289C>T (n.*782-22289C>T) c.1176G>A (p.Gly392=) c.1116G>A (p.Gly372=) c.1047G>A (p.Gly349=) c.966G>A (p.Gly322=) c.*1+27502C>T (n.*1+27502C>T) c.1068G>A (p.Gly356=) c.999G>A (p.Gly333=) n.1478+23976C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.4576677G>C | CA463728603 | SLC1A1,SPATA6L | c.1107G>C (p.Gly369=) c.394G>C c.*782-22289C>G (n.*782-22289C>G) c.1176G>C (p.Gly392=) c.1116G>C (p.Gly372=) c.1047G>C (p.Gly349=) c.966G>C (p.Gly322=) c.*1+27502C>G (n.*1+27502C>G) c.1068G>C (p.Gly356=) c.999G>C (p.Gly333=) n.1478+23976C>G | |
9 | g.4576677G= | CA1829385569 | SLC1A1,SPATA6L | c.1107G= (p.Gly369=) c.394G= c.*782-22289C= (n.*782-22289C=) c.1176G= (p.Gly392=) c.1116G= (p.Gly372=) c.1047G= (p.Gly349=) c.966G= (p.Gly322=) c.*1+27502C= (n.*1+27502C=) c.1068G= (p.Gly356=) c.999G= (p.Gly333=) n.1478+23976C= | |
9 | g.4576677G>T | CA463728604 | SLC1A1,SPATA6L | c.1107G>T (p.Gly369=) c.394G>T c.*782-22289C>A (n.*782-22289C>A) c.1176G>T (p.Gly392=) c.1116G>T (p.Gly372=) c.1047G>T (p.Gly349=) c.966G>T (p.Gly322=) c.*1+27502C>A (n.*1+27502C>A) c.1068G>T (p.Gly356=) c.999G>T (p.Gly333=) n.1478+23976C>A | |
9 | g.4576678A>C | CA372818538 | SLC1A1,SPATA6L | c.1108A>C (p.Thr370Pro) c.395A>C c.*782-22290T>G (n.*782-22290T>G) c.1177A>C (p.Thr393Pro) c.1117A>C (p.Thr373Pro) c.1048A>C (p.Thr350Pro) c.967A>C (p.Thr323Pro) c.*1+27501T>G (n.*1+27501T>G) c.1069A>C (p.Thr357Pro) c.1000A>C (p.Thr334Pro) n.1478+23975T>G | |
9 | g.4576678A>G | CA372818541 | SLC1A1,SPATA6L | c.1108A>G (p.Thr370Ala) c.395A>G c.*782-22290T>C (n.*782-22290T>C) c.1177A>G (p.Thr393Ala) c.1117A>G (p.Thr373Ala) c.1048A>G (p.Thr350Ala) c.967A>G (p.Thr323Ala) c.*1+27501T>C (n.*1+27501T>C) c.1069A>G (p.Thr357Ala) c.1000A>G (p.Thr334Ala) n.1478+23975T>C | |
9 | g.4576678A>T | CA372818543 | SLC1A1,SPATA6L | c.1108A>T (p.Thr370Ser) c.395A>T c.*782-22290T>A (n.*782-22290T>A) c.1177A>T (p.Thr393Ser) c.1117A>T (p.Thr373Ser) c.1048A>T (p.Thr350Ser) c.967A>T (p.Thr323Ser) c.*1+27501T>A (n.*1+27501T>A) c.1069A>T (p.Thr357Ser) c.1000A>T (p.Thr334Ser) n.1478+23975T>A | |
9 | g.4576679C>A | CA4969233 | SLC1A1,SPATA6L | c.1109C>A (p.Thr370Asn) c.396C>A c.*782-22291G>T (n.*782-22291G>T) c.1178C>A (p.Thr393Asn) c.1118C>A (p.Thr373Asn) c.1049C>A (p.Thr350Asn) c.968C>A (p.Thr323Asn) c.*1+27500G>T (n.*1+27500G>T) c.1070C>A (p.Thr357Asn) c.1001C>A (p.Thr334Asn) n.1478+23974G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576679C= | CA1829385573 | SLC1A1,SPATA6L | c.1109C= (p.Thr370=) c.396C= c.*782-22291G= (n.*782-22291G=) c.1178C= (p.Thr393=) c.1118C= (p.Thr373=) c.1049C= (p.Thr350=) c.968C= (p.Thr323=) c.*1+27500G= (n.*1+27500G=) c.1070C= (p.Thr357=) c.1001C= (p.Thr334=) n.1478+23974G= | |
9 | g.4576679C>G | CA372818547 | SLC1A1,SPATA6L | c.1109C>G (p.Thr370Ser) c.396C>G c.*782-22291G>C (n.*782-22291G>C) c.1178C>G (p.Thr393Ser) c.1118C>G (p.Thr373Ser) c.1049C>G (p.Thr350Ser) c.968C>G (p.Thr323Ser) c.*1+27500G>C (n.*1+27500G>C) c.1070C>G (p.Thr357Ser) c.1001C>G (p.Thr334Ser) n.1478+23974G>C | |
9 | g.4576679C>T | CA4969232 | SLC1A1,SPATA6L | c.1109C>T (p.Thr370Ile) c.396C>T c.*782-22291G>A (n.*782-22291G>A) c.1178C>T (p.Thr393Ile) c.1118C>T (p.Thr373Ile) c.1049C>T (p.Thr350Ile) c.968C>T (p.Thr323Ile) c.*1+27500G>A (n.*1+27500G>A) c.1070C>T (p.Thr357Ile) c.1001C>T (p.Thr334Ile) n.1478+23974G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.4576680T>A | CA463728605 | SLC1A1,SPATA6L | c.1110T>A (p.Thr370=) c.397T>A c.*782-22292A>T (n.*782-22292A>T) c.1179T>A (p.Thr393=) c.1119T>A (p.Thr373=) c.1050T>A (p.Thr350=) c.969T>A (p.Thr323=) c.*1+27499A>T (n.*1+27499A>T) c.1071T>A (p.Thr357=) c.1002T>A (p.Thr334=) n.1478+23973A>T | dbSNP |
9 | g.4576680T>C | CA4969234 | SLC1A1,SPATA6L | c.1110T>C (p.Thr370=) c.397T>C c.*782-22292A>G (n.*782-22292A>G) c.1179T>C (p.Thr393=) c.1119T>C (p.Thr373=) c.1050T>C (p.Thr350=) c.969T>C (p.Thr323=) c.*1+27499A>G (n.*1+27499A>G) c.1071T>C (p.Thr357=) c.1002T>C (p.Thr334=) n.1478+23973A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.4576680T>G | CA463728606 | SLC1A1,SPATA6L | c.1110T>G (p.Thr370=) c.397T>G c.*782-22292A>C (n.*782-22292A>C) c.1179T>G (p.Thr393=) c.1119T>G (p.Thr373=) c.1050T>G (p.Thr350=) c.969T>G (p.Thr323=) c.*1+27499A>C (n.*1+27499A>C) c.1071T>G (p.Thr357=) c.1002T>G (p.Thr334=) n.1478+23973A>C | dbSNP |
9 | g.4576680T= | CA1829385579 | SLC1A1,SPATA6L | c.1110T= (p.Thr370=) c.397T= c.*782-22292A= (n.*782-22292A=) c.1179T= (p.Thr393=) c.1119T= (p.Thr373=) c.1050T= (p.Thr350=) c.969T= (p.Thr323=) c.*1+27499A= (n.*1+27499A=) c.1071T= (p.Thr357=) c.1002T= (p.Thr334=) n.1478+23973A= | |
9 | g.4576680_4576681delinsTG | CA1829385580 | SLC1A1,SPATA6L | c.1110_1111delinsTG (p.Thr370=) c.397_398delinsTG c.*782-22293_*782-22292delinsCA (n.*782-22293_*782-22292delinsCA) c.1179_1180delinsTG (p.Thr393=) c.1119_1120delinsTG (p.Thr373=) c.1050_1051delinsTG (p.Thr350=) c.969_970delinsTG (p.Thr323=) c.*1+27498_*1+27499delinsCA (n.*1+27498_*1+27499delinsCA) c.1071_1072delinsTG (p.Thr357=) c.1002_1003delinsTG (p.Thr334=) n.1478+23972_1478+23973delinsCA | |
9 | g.4576681del | CA865010486 | SLC1A1,SPATA6L | c.1111del (p.Ala371ArgfsTer14) c.398del c.*782-22293del (n.*782-22293del) c.1180del (p.Ala394ArgfsTer14) c.1120del (p.Ala374ArgfsTer14) c.1051del (p.Ala351ArgfsTer14) c.970del (p.Ala324ArgfsTer14) c.*1+27498del (n.*1+27498del) c.1072del (p.Ala358ArgfsTer14) c.1003del (p.Ala335ArgfsTer14) n.1478+23972del | dbSNP gnomAD v4 |
9 | g.4576681G>A | CA4969235 | SLC1A1,SPATA6L | c.1111G>A (p.Ala371Thr) c.398G>A c.*782-22293C>T (n.*782-22293C>T) c.1180G>A (p.Ala394Thr) c.1120G>A (p.Ala374Thr) c.1051G>A (p.Ala351Thr) c.970G>A (p.Ala324Thr) c.*1+27498C>T (n.*1+27498C>T) c.1072G>A (p.Ala358Thr) c.1003G>A (p.Ala335Thr) n.1478+23972C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576681G>C | CA372818551 | SLC1A1,SPATA6L | c.1111G>C (p.Ala371Pro) c.398G>C c.*782-22293C>G (n.*782-22293C>G) c.1180G>C (p.Ala394Pro) c.1120G>C (p.Ala374Pro) c.1051G>C (p.Ala351Pro) c.970G>C (p.Ala324Pro) c.*1+27498C>G (n.*1+27498C>G) c.1072G>C (p.Ala358Pro) c.1003G>C (p.Ala335Pro) n.1478+23972C>G | |
9 | g.4576681G= | CA1829385591 | SLC1A1,SPATA6L | c.1111G= (p.Ala371=) c.398G= c.*782-22293C= (n.*782-22293C=) c.1180G= (p.Ala394=) c.1120G= (p.Ala374=) c.1051G= (p.Ala351=) c.970G= (p.Ala324=) c.*1+27498C= (n.*1+27498C=) c.1072G= (p.Ala358=) c.1003G= (p.Ala335=) n.1478+23972C= | |
9 | g.4576681G>T | CA372818554 | SLC1A1,SPATA6L | c.1111G>T (p.Ala371Ser) c.398G>T c.*782-22293C>A (n.*782-22293C>A) c.1180G>T (p.Ala394Ser) c.1120G>T (p.Ala374Ser) c.1051G>T (p.Ala351Ser) c.970G>T (p.Ala324Ser) c.*1+27498C>A (n.*1+27498C>A) c.1072G>T (p.Ala358Ser) c.1003G>T (p.Ala335Ser) n.1478+23972C>A | |
9 | g.4576682C>A | CA372818559 | SLC1A1,SPATA6L | c.1112C>A (p.Ala371Glu) c.399C>A c.*782-22294G>T (n.*782-22294G>T) c.1181C>A (p.Ala394Glu) c.1121C>A (p.Ala374Glu) c.1052C>A (p.Ala351Glu) c.971C>A (p.Ala324Glu) c.*1+27497G>T (n.*1+27497G>T) c.1073C>A (p.Ala358Glu) c.1004C>A (p.Ala335Glu) n.1478+23971G>T | |
9 | g.4576682C= | CA1829385595 | SLC1A1,SPATA6L | c.1112C= (p.Ala371=) c.399C= c.*782-22294G= (n.*782-22294G=) c.1181C= (p.Ala394=) c.1121C= (p.Ala374=) c.1052C= (p.Ala351=) c.971C= (p.Ala324=) c.*1+27497G= (n.*1+27497G=) c.1073C= (p.Ala358=) c.1004C= (p.Ala335=) n.1478+23971G= | |
9 | g.4576682C>G | CA372818558 | SLC1A1,SPATA6L | c.1112C>G (p.Ala371Gly) c.399C>G c.*782-22294G>C (n.*782-22294G>C) c.1181C>G (p.Ala394Gly) c.1121C>G (p.Ala374Gly) c.1052C>G (p.Ala351Gly) c.971C>G (p.Ala324Gly) c.*1+27497G>C (n.*1+27497G>C) c.1073C>G (p.Ala358Gly) c.1004C>G (p.Ala335Gly) n.1478+23971G>C | |
9 | g.4576682C>T | CA4969236 | SLC1A1,SPATA6L | c.1112C>T (p.Ala371Val) c.399C>T c.*782-22294G>A (n.*782-22294G>A) c.1181C>T (p.Ala394Val) c.1121C>T (p.Ala374Val) c.1052C>T (p.Ala351Val) c.971C>T (p.Ala324Val) c.*1+27497G>A (n.*1+27497G>A) c.1073C>T (p.Ala358Val) c.1004C>T (p.Ala335Val) n.1478+23971G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576683G>A | CA4969237 | SLC1A1,SPATA6L | c.1113G>A (p.Ala371=) c.400G>A c.*782-22295C>T (n.*782-22295C>T) c.1182G>A (p.Ala394=) c.1122G>A (p.Ala374=) c.1053G>A (p.Ala351=) c.972G>A (p.Ala324=) c.*1+27496C>T (n.*1+27496C>T) c.1074G>A (p.Ala358=) c.1005G>A (p.Ala335=) n.1478+23970C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.4576683G>C | CA463728607 | SLC1A1,SPATA6L | c.1113G>C (p.Ala371=) c.400G>C c.*782-22295C>G (n.*782-22295C>G) c.1182G>C (p.Ala394=) c.1122G>C (p.Ala374=) c.1053G>C (p.Ala351=) c.972G>C (p.Ala324=) c.*1+27496C>G (n.*1+27496C>G) c.1074G>C (p.Ala358=) c.1005G>C (p.Ala335=) n.1478+23970C>G | |
9 | g.4576683G= | CA1829385599 | SLC1A1,SPATA6L | c.1113G= (p.Ala371=) c.400G= c.*782-22295C= (n.*782-22295C=) c.1182G= (p.Ala394=) c.1122G= (p.Ala374=) c.1053G= (p.Ala351=) c.972G= (p.Ala324=) c.*1+27496C= (n.*1+27496C=) c.1074G= (p.Ala358=) c.1005G= (p.Ala335=) n.1478+23970C= | |
9 | g.4576683G>T | CA463728608 | SLC1A1,SPATA6L | c.1113G>T (p.Ala371=) c.400G>T c.*782-22295C>A (n.*782-22295C>A) c.1182G>T (p.Ala394=) c.1122G>T (p.Ala374=) c.1053G>T (p.Ala351=) c.972G>T (p.Ala324=) c.*1+27496C>A (n.*1+27496C>A) c.1074G>T (p.Ala358=) c.1005G>T (p.Ala335=) n.1478+23970C>A | |
9 | g.4576684C>A | CA372818562 | SLC1A1,SPATA6L | c.1114C>A (p.Leu372Ile) c.401C>A c.*782-22296G>T (n.*782-22296G>T) c.1183C>A (p.Leu395Ile) c.1123C>A (p.Leu375Ile) c.1054C>A (p.Leu352Ile) c.973C>A (p.Leu325Ile) c.*1+27495G>T (n.*1+27495G>T) c.1075C>A (p.Leu359Ile) c.1006C>A (p.Leu336Ile) n.1478+23969G>T | |
9 | g.4576684C>G | CA372818564 | SLC1A1,SPATA6L | c.1114C>G (p.Leu372Val) c.401C>G c.*782-22296G>C (n.*782-22296G>C) c.1183C>G (p.Leu395Val) c.1123C>G (p.Leu375Val) c.1054C>G (p.Leu352Val) c.973C>G (p.Leu325Val) c.*1+27495G>C (n.*1+27495G>C) c.1075C>G (p.Leu359Val) c.1006C>G (p.Leu336Val) n.1478+23969G>C | |
9 | g.4576684C>T | CA372818566 | SLC1A1,SPATA6L | c.1114C>T (p.Leu372Phe) c.401C>T c.*782-22296G>A (n.*782-22296G>A) c.1183C>T (p.Leu395Phe) c.1123C>T (p.Leu375Phe) c.1054C>T (p.Leu352Phe) c.973C>T (p.Leu325Phe) c.*1+27495G>A (n.*1+27495G>A) c.1075C>T (p.Leu359Phe) c.1006C>T (p.Leu336Phe) n.1478+23969G>A | |
9 | g.4576685T>A | CA372818569 | SLC1A1,SPATA6L | c.1115T>A (p.Leu372His) c.402T>A c.*782-22297A>T (n.*782-22297A>T) c.1184T>A (p.Leu395His) c.1124T>A (p.Leu375His) c.1055T>A (p.Leu352His) c.974T>A (p.Leu325His) c.*1+27494A>T (n.*1+27494A>T) c.1076T>A (p.Leu359His) c.1007T>A (p.Leu336His) n.1478+23968A>T | |
9 | g.4576685T>C | CA372818571 | SLC1A1,SPATA6L | c.1115T>C (p.Leu372Pro) c.402T>C c.*782-22297A>G (n.*782-22297A>G) c.1184T>C (p.Leu395Pro) c.1124T>C (p.Leu375Pro) c.1055T>C (p.Leu352Pro) c.974T>C (p.Leu325Pro) c.*1+27494A>G (n.*1+27494A>G) c.1076T>C (p.Leu359Pro) c.1007T>C (p.Leu336Pro) n.1478+23968A>G | |
9 | g.4576685T>G | CA372818573 | SLC1A1,SPATA6L | c.1115T>G (p.Leu372Arg) c.402T>G c.*782-22297A>C (n.*782-22297A>C) c.1184T>G (p.Leu395Arg) c.1124T>G (p.Leu375Arg) c.1055T>G (p.Leu352Arg) c.974T>G (p.Leu325Arg) c.*1+27494A>C (n.*1+27494A>C) c.1076T>G (p.Leu359Arg) c.1007T>G (p.Leu336Arg) n.1478+23968A>C | |
9 | g.4576686C>A | CA463728609 | SLC1A1,SPATA6L | c.1116C>A (p.Leu372=) c.403C>A c.*782-22298G>T (n.*782-22298G>T) c.1185C>A (p.Leu395=) c.1125C>A (p.Leu375=) c.1056C>A (p.Leu352=) c.975C>A (p.Leu325=) c.*1+27493G>T (n.*1+27493G>T) c.1077C>A (p.Leu359=) c.1008C>A (p.Leu336=) n.1478+23967G>T | dbSNP |
9 | g.4576686C= | CA1829385604 | SLC1A1,SPATA6L | c.1116C= (p.Leu372=) c.403C= c.*782-22298G= (n.*782-22298G=) c.1185C= (p.Leu395=) c.1125C= (p.Leu375=) c.1056C= (p.Leu352=) c.975C= (p.Leu325=) c.*1+27493G= (n.*1+27493G=) c.1077C= (p.Leu359=) c.1008C= (p.Leu336=) n.1478+23967G= | |
9 | g.4576686C>G | CA463728610 | SLC1A1,SPATA6L | c.1116C>G (p.Leu372=) c.403C>G c.*782-22298G>C (n.*782-22298G>C) c.1185C>G (p.Leu395=) c.1125C>G (p.Leu375=) c.1056C>G (p.Leu352=) c.975C>G (p.Leu325=) c.*1+27493G>C (n.*1+27493G>C) c.1077C>G (p.Leu359=) c.1008C>G (p.Leu336=) n.1478+23967G>C | |
9 | g.4576686C>T | CA463728611 | SLC1A1,SPATA6L | c.1116C>T (p.Leu372=) c.403C>T c.*782-22298G>A (n.*782-22298G>A) c.1185C>T (p.Leu395=) c.1125C>T (p.Leu375=) c.1056C>T (p.Leu352=) c.975C>T (p.Leu325=) c.*1+27493G>A (n.*1+27493G>A) c.1077C>T (p.Leu359=) c.1008C>T (p.Leu336=) n.1478+23967G>A | |
9 | g.4576687T>A | CA372818575 | SLC1A1,SPATA6L | c.1117T>A (p.Tyr373Asn) c.404T>A c.*782-22299A>T (n.*782-22299A>T) c.1186T>A (p.Tyr396Asn) c.1126T>A (p.Tyr376Asn) c.1057T>A (p.Tyr353Asn) c.976T>A (p.Tyr326Asn) c.*1+27492A>T (n.*1+27492A>T) c.1078T>A (p.Tyr360Asn) c.1009T>A (p.Tyr337Asn) n.1478+23966A>T | |
9 | g.4576687T>C | CA372818577 | SLC1A1,SPATA6L | c.1117T>C (p.Tyr373His) c.404T>C c.*782-22299A>G (n.*782-22299A>G) c.1186T>C (p.Tyr396His) c.1126T>C (p.Tyr376His) c.1057T>C (p.Tyr353His) c.976T>C (p.Tyr326His) c.*1+27492A>G (n.*1+27492A>G) c.1078T>C (p.Tyr360His) c.1009T>C (p.Tyr337His) n.1478+23966A>G | dbSNP |
9 | g.4576687T>G | CA372818578 | SLC1A1,SPATA6L | c.1117T>G (p.Tyr373Asp) c.404T>G c.*782-22299A>C (n.*782-22299A>C) c.1186T>G (p.Tyr396Asp) c.1126T>G (p.Tyr376Asp) c.1057T>G (p.Tyr353Asp) c.976T>G (p.Tyr326Asp) c.*1+27492A>C (n.*1+27492A>C) c.1078T>G (p.Tyr360Asp) c.1009T>G (p.Tyr337Asp) n.1478+23966A>C |