| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124400865G>A | CA113955 | OAT | c.1134C>T (p.Asn378=) n.644C>T c.720C>T (p.Asn240=) c.813C>T (p.Asn271=) c.534C>T (p.Asn178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124400865G>C | CA378633553 | OAT | c.1134C>G (p.Asn378Lys) n.644C>G c.720C>G (p.Asn240Lys) c.813C>G (p.Asn271Lys) c.534C>G (p.Asn178Lys) | gnomAD v4 |
| 10 | g.124400865G= | CA1942337002 | OAT | c.1134C= (p.Asn378=) n.644C= c.720C= (p.Asn240=) c.813C= (p.Asn271=) c.534C= (p.Asn178=) | |
| 10 | g.124400865G>T | CA378633552 | OAT | c.1134C>A (p.Asn378Lys) n.644C>A c.720C>A (p.Asn240Lys) c.813C>A (p.Asn271Lys) c.534C>A (p.Asn178Lys) | gnomAD v4 |
| 10 | g.124400866T>A | CA378633554 | OAT | c.1133A>T (p.Asn378Ile) n.643A>T c.719A>T (p.Asn240Ile) c.812A>T (p.Asn271Ile) c.533A>T (p.Asn178Ile) | |
| 10 | g.124400866T>C | CA378633555 | OAT | c.1133A>G (p.Asn378Ser) n.643A>G c.719A>G (p.Asn240Ser) c.812A>G (p.Asn271Ser) c.533A>G (p.Asn178Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.124400866T>G | CA378633556 | OAT | c.1133A>C (p.Asn378Thr) n.643A>C c.719A>C (p.Asn240Thr) c.812A>C (p.Asn271Thr) c.533A>C (p.Asn178Thr) | |
| 10 | g.124400866T= | CA1942337003 | OAT | c.1133A= (p.Asn378=) n.643A= c.719A= (p.Asn240=) c.812A= (p.Asn271=) c.533A= (p.Asn178=) | |
| 10 | g.124400867T>A | CA378633557 | OAT | c.1132A>T (p.Asn378Tyr) n.642A>T c.718A>T (p.Asn240Tyr) c.811A>T (p.Asn271Tyr) c.532A>T (p.Asn178Tyr) | |
| 10 | g.124400867T>C | CA378633558 | OAT | c.1132A>G (p.Asn378Asp) n.642A>G c.718A>G (p.Asn240Asp) c.811A>G (p.Asn271Asp) c.532A>G (p.Asn178Asp) | |
| 10 | g.124400867T>G | CA378633559 | OAT | c.1132A>C (p.Asn378His) n.642A>C c.718A>C (p.Asn240His) c.811A>C (p.Asn271His) c.532A>C (p.Asn178His) | |
| 10 | g.124400868T>A | CA378633560 | OAT | c.1131A>T (p.Leu377Phe) n.641A>T c.717A>T (p.Leu239Phe) c.810A>T (p.Leu270Phe) c.531A>T (p.Leu177Phe) | gnomAD v4 |
| 10 | g.124400868T>C | CA471762610 | OAT | c.1131A>G (p.Leu377=) n.641A>G c.717A>G (p.Leu239=) c.810A>G (p.Leu270=) c.531A>G (p.Leu177=) | |
| 10 | g.124400868T>G | CA378633561 | OAT | c.1131A>C (p.Leu377Phe) n.641A>C c.717A>C (p.Leu239Phe) c.810A>C (p.Leu270Phe) c.531A>C (p.Leu177Phe) | |
| 10 | g.124400869A>C | CA378633562 | OAT | c.1130T>G (p.Leu377Ter) n.640T>G c.716T>G (p.Leu239Ter) c.809T>G (p.Leu270Ter) c.530T>G (p.Leu177Ter) | |
| 10 | g.124400869A>G | CA378633563 | OAT | c.1130T>C (p.Leu377Ser) n.640T>C c.716T>C (p.Leu239Ser) c.809T>C (p.Leu270Ser) c.530T>C (p.Leu177Ser) | |
| 10 | g.124400869A>T | CA378633564 | OAT | c.1130T>A (p.Leu377Ter) n.640T>A c.716T>A (p.Leu239Ter) c.809T>A (p.Leu270Ter) c.530T>A (p.Leu177Ter) | |
| 10 | g.124400870A>C | CA378633565 | OAT | c.1129T>G (p.Leu377Val) n.639T>G c.715T>G (p.Leu239Val) c.808T>G (p.Leu270Val) c.529T>G (p.Leu177Val) | |
| 10 | g.124400870A>G | CA471762611 | OAT | c.1129T>C (p.Leu377=) n.639T>C c.715T>C (p.Leu239=) c.808T>C (p.Leu270=) c.529T>C (p.Leu177=) | |
| 10 | g.124400870A>T | CA378633566 | OAT | c.1129T>A (p.Leu377Ile) n.639T>A c.715T>A (p.Leu239Ile) c.808T>A (p.Leu270Ile) c.529T>A (p.Leu177Ile) | |
| 10 | g.124400871T>A | CA378633567 | OAT | c.1128A>T (p.Leu376Phe) n.638A>T c.714A>T (p.Leu238Phe) c.807A>T (p.Leu269Phe) c.528A>T (p.Leu176Phe) | gnomAD v4 |
| 10 | g.124400871T>C | CA471762612 | OAT | c.1128A>G (p.Leu376=) n.638A>G c.714A>G (p.Leu238=) c.807A>G (p.Leu269=) c.528A>G (p.Leu176=) | |
| 10 | g.124400871T>G | CA378633568 | OAT | c.1128A>C (p.Leu376Phe) n.638A>C c.714A>C (p.Leu238Phe) c.807A>C (p.Leu269Phe) c.528A>C (p.Leu176Phe) | |
| 10 | g.124400872A>C | CA378633569 | OAT | c.1127T>G (p.Leu376Ter) n.637T>G c.713T>G (p.Leu238Ter) c.806T>G (p.Leu269Ter) c.527T>G (p.Leu176Ter) | |
| 10 | g.124400872A>G | CA378633570 | OAT | c.1127T>C (p.Leu376Ser) n.637T>C c.713T>C (p.Leu238Ser) c.806T>C (p.Leu269Ser) c.527T>C (p.Leu176Ser) | |
| 10 | g.124400872A>T | CA378633571 | OAT | c.1127T>A (p.Leu376Ter) n.637T>A c.713T>A (p.Leu238Ter) c.806T>A (p.Leu269Ter) c.527T>A (p.Leu176Ter) | gnomAD v4 |
| 10 | g.124400873A>C | CA378633572 | OAT | c.1126T>G (p.Leu376Val) n.636T>G c.712T>G (p.Leu238Val) c.805T>G (p.Leu269Val) c.526T>G (p.Leu176Val) | |
| 10 | g.124400873A>G | CA471762613 | OAT | c.1126T>C (p.Leu376=) n.636T>C c.712T>C (p.Leu238=) c.805T>C (p.Leu269=) c.526T>C (p.Leu176=) | ClinVar dbSNP |
| 10 | g.124400873A>T | CA378633573 | OAT | c.1126T>A (p.Leu376Ile) n.636T>A c.712T>A (p.Leu238Ile) c.805T>A (p.Leu269Ile) c.526T>A (p.Leu176Ile) | |
| 10 | g.124400874T>A | CA471762614 | OAT | c.1125A>T (p.Gly375=) n.635A>T c.711A>T (p.Gly237=) c.804A>T (p.Gly268=) c.525A>T (p.Gly175=) | |
| 10 | g.124400874T>C | CA471762615 | OAT | c.1125A>G (p.Gly375=) n.635A>G c.711A>G (p.Gly237=) c.804A>G (p.Gly268=) c.525A>G (p.Gly175=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.124400874T>G | CA471762616 | OAT | c.1125A>C (p.Gly375=) n.635A>C c.711A>C (p.Gly237=) c.804A>C (p.Gly268=) c.525A>C (p.Gly175=) | |
| 10 | g.124400874T= | CA1942337004 | OAT | c.1125A= (p.Gly375=) n.635A= c.711A= (p.Gly237=) c.804A= (p.Gly268=) c.525A= (p.Gly175=) | |
| 10 | g.124400875C>A | CA378633574 | OAT | c.1124G>T (p.Gly375Val) n.634G>T c.710G>T (p.Gly237Val) c.803G>T (p.Gly268Val) c.524G>T (p.Gly175Val) | |
| 10 | g.124400875C= | CA1942337005 | OAT | c.1124G= (p.Gly375=) n.634G= c.710G= (p.Gly237=) c.803G= (p.Gly268=) c.524G= (p.Gly175=) | |
| 10 | g.124400875C>G | CA113949 | OAT | c.1124G>C (p.Gly375Ala) n.634G>C c.710G>C (p.Gly237Ala) c.803G>C (p.Gly268Ala) c.524G>C (p.Gly175Ala) | ClinVar dbSNP |
| 10 | g.124400875C>T | CA378633575 | OAT | c.1124G>A (p.Gly375Glu) n.634G>A c.710G>A (p.Gly237Glu) c.803G>A (p.Gly268Glu) c.524G>A (p.Gly175Glu) | gnomAD v4 |
| 10 | g.124400876C>A | CA378633576 | OAT | c.1123G>T (p.Gly375Ter) n.633G>T c.709G>T (p.Gly237Ter) c.802G>T (p.Gly268Ter) c.523G>T (p.Gly175Ter) | gnomAD v4 |
| 10 | g.124400876C>G | CA378633577 | OAT | c.1123G>C (p.Gly375Arg) n.633G>C c.709G>C (p.Gly237Arg) c.802G>C (p.Gly268Arg) c.523G>C (p.Gly175Arg) | |
| 10 | g.124400876C>T | CA378633578 | OAT | c.1123G>A (p.Gly375Arg) n.633G>A c.709G>A (p.Gly237Arg) c.802G>A (p.Gly268Arg) c.523G>A (p.Gly175Arg) | |
| 10 | g.124400876_124400877delinsCT | CA1942337006 | OAT | c.1122_1123delinsAG (p.Lys374=) n.632_633delinsAG c.708_709delinsAG (p.Lys236=) c.801_802delinsAG (p.Lys267=) c.522_523delinsAG (p.Lys174=) | |
| 10 | g.124400877T>A | CA378633580 | OAT | c.1122A>T (p.Lys374Asn) n.632A>T c.708A>T (p.Lys236Asn) c.801A>T (p.Lys267Asn) c.522A>T (p.Lys174Asn) | |
| 10 | g.124400877T>C | CA471762617 | OAT | c.1122A>G (p.Lys374=) n.632A>G c.708A>G (p.Lys236=) c.801A>G (p.Lys267=) c.522A>G (p.Lys174=) | gnomAD v4 |
| 10 | g.124400877T>G | CA378633579 | OAT | c.1122A>C (p.Lys374Asn) n.632A>C c.708A>C (p.Lys236Asn) c.801A>C (p.Lys267Asn) c.522A>C (p.Lys174Asn) | |
| 10 | g.124400880del | CA5733327 | OAT | c.1122del (p.Gly375AspfsTer3) n.632del c.708del (p.Gly237AspfsTer3) c.801del (p.Gly268AspfsTer3) c.522del (p.Gly175AspfsTer3) | dbSNP ExAC gnomAD v4 |
| 10 | g.124400878T>A | CA378633583 | OAT | c.1121A>T (p.Lys374Ile) n.631A>T c.707A>T (p.Lys236Ile) c.800A>T (p.Lys267Ile) c.521A>T (p.Lys174Ile) | |
| 10 | g.124400878T>C | CA378633581 | OAT | c.1121A>G (p.Lys374Arg) n.631A>G c.707A>G (p.Lys236Arg) c.800A>G (p.Lys267Arg) c.521A>G (p.Lys174Arg) | |
| 10 | g.124400878T>G | CA378633582 | OAT | c.1121A>C (p.Lys374Thr) n.631A>C c.707A>C (p.Lys236Thr) c.800A>C (p.Lys267Thr) c.521A>C (p.Lys174Thr) | |
| 10 | g.124400879T>A | CA378633584 | OAT | c.1120A>T (p.Lys374Ter) n.630A>T c.706A>T (p.Lys236Ter) c.799A>T (p.Lys267Ter) c.520A>T (p.Lys174Ter) | |
| 10 | g.124400879T>C | CA378633585 | OAT | c.1120A>G (p.Lys374Glu) n.630A>G c.706A>G (p.Lys236Glu) c.799A>G (p.Lys267Glu) c.520A>G (p.Lys174Glu) |