| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73636625_73636640del | CA2580075776 | SLC17A5 | c.683_698del (p.Tyr228LeufsTer15) n.449_464del c.632_647del (p.Tyr211LeufsTer15) c.485_500del (p.Tyr162LeufsTer15) c.452_467del (p.Tyr151LeufsTer15) c.704_719del (p.Tyr235LeufsTer15) c.614-1138_614-1123del (n.614-1138_614-1123del) c.680_695del (p.Tyr227LeufsTer15) c.383-1138_383-1123del (n.383-1138_383-1123del) | ClinVar |
| 6 | g.73636627_73636628delinsAG | CA1638219042 | SLC17A5 | c.693_694delinsCT (p.Tyr231=) n.459_460delinsCT c.642_643delinsCT (p.Tyr214=) c.495_496delinsCT (p.Tyr165=) c.462_463delinsCT (p.Tyr154=) c.714_715delinsCT (p.Tyr238=) c.614-1128_614-1127delinsCT (n.614-1128_614-1127delinsCT) c.690_691delinsCT (p.Tyr230=) c.383-1128_383-1127delinsCT (n.383-1128_383-1127delinsCT) | |
| 6 | g.73636628del | CA16041083 | SLC17A5 | c.693del (p.Phe233LeufsTer15) n.459del c.642del (p.Phe216LeufsTer15) c.495del (p.Phe167LeufsTer15) c.462del (p.Phe156LeufsTer15) c.714del (p.Phe240LeufsTer15) c.614-1128del (n.614-1128del) c.690del (p.Phe232LeufsTer15) c.383-1128del (n.383-1128del) | ClinVar dbSNP |
| 6 | g.73636628G>A | CA450911943 | SLC17A5 | c.693C>T (p.Tyr231=) n.459C>T c.642C>T (p.Tyr214=) c.495C>T (p.Tyr165=) c.462C>T (p.Tyr154=) c.714C>T (p.Tyr238=) c.614-1128C>T (n.614-1128C>T) c.690C>T (p.Tyr230=) c.383-1128C>T (n.383-1128C>T) | |
| 6 | g.73636628G>C | CA364716420 | SLC17A5 | c.693C>G (p.Tyr231Ter) n.459C>G c.642C>G (p.Tyr214Ter) c.495C>G (p.Tyr165Ter) c.462C>G (p.Tyr154Ter) c.714C>G (p.Tyr238Ter) c.614-1128C>G (n.614-1128C>G) c.690C>G (p.Tyr230Ter) c.383-1128C>G (n.383-1128C>G) | |
| 6 | g.73636628G>T | CA364716418 | SLC17A5 | c.693C>A (p.Tyr231Ter) n.459C>A c.642C>A (p.Tyr214Ter) c.495C>A (p.Tyr165Ter) c.462C>A (p.Tyr154Ter) c.714C>A (p.Tyr238Ter) c.614-1128C>A (n.614-1128C>A) c.690C>A (p.Tyr230Ter) c.383-1128C>A (n.383-1128C>A) | ClinVar gnomAD v4 |
| 6 | g.73636629T>A | CA364716422 | SLC17A5 | c.692A>T (p.Tyr231Phe) n.458A>T c.641A>T (p.Tyr214Phe) c.494A>T (p.Tyr165Phe) c.461A>T (p.Tyr154Phe) c.713A>T (p.Tyr238Phe) c.614-1129A>T (n.614-1129A>T) c.689A>T (p.Tyr230Phe) c.383-1129A>T (n.383-1129A>T) | |
| 6 | g.73636629T>C | CA364716423 | SLC17A5 | c.692A>G (p.Tyr231Cys) n.458A>G c.641A>G (p.Tyr214Cys) c.494A>G (p.Tyr165Cys) c.461A>G (p.Tyr154Cys) c.713A>G (p.Tyr238Cys) c.614-1129A>G (n.614-1129A>G) c.689A>G (p.Tyr230Cys) c.383-1129A>G (n.383-1129A>G) | |
| 6 | g.73636629T>G | CA364716425 | SLC17A5 | c.692A>C (p.Tyr231Ser) n.458A>C c.641A>C (p.Tyr214Ser) c.494A>C (p.Tyr165Ser) c.461A>C (p.Tyr154Ser) c.713A>C (p.Tyr238Ser) c.614-1129A>C (n.614-1129A>C) c.689A>C (p.Tyr230Ser) c.383-1129A>C (n.383-1129A>C) | |
| 6 | g.73636630A>C | CA364716427 | SLC17A5 | c.691T>G (p.Tyr231Asp) n.457T>G c.640T>G (p.Tyr214Asp) c.493T>G (p.Tyr165Asp) c.460T>G (p.Tyr154Asp) c.712T>G (p.Tyr238Asp) c.614-1130T>G (n.614-1130T>G) c.688T>G (p.Tyr230Asp) c.383-1130T>G (n.383-1130T>G) | |
| 6 | g.73636630A>G | CA364716429 | SLC17A5 | c.691T>C (p.Tyr231His) n.457T>C c.640T>C (p.Tyr214His) c.493T>C (p.Tyr165His) c.460T>C (p.Tyr154His) c.712T>C (p.Tyr238His) c.614-1130T>C (n.614-1130T>C) c.688T>C (p.Tyr230His) c.383-1130T>C (n.383-1130T>C) | gnomAD v4 |
| 6 | g.73636630A>T | CA364716430 | SLC17A5 | c.691T>A (p.Tyr231Asn) n.457T>A c.640T>A (p.Tyr214Asn) c.493T>A (p.Tyr165Asn) c.460T>A (p.Tyr154Asn) c.712T>A (p.Tyr238Asn) c.614-1130T>A (n.614-1130T>A) c.688T>A (p.Tyr230Asn) c.383-1130T>A (n.383-1130T>A) | gnomAD v4 |
| 6 | g.73636631G>A | CA450911945 | SLC17A5 | c.690C>T (p.Phe230=) n.456C>T c.639C>T (p.Phe213=) c.492C>T (p.Phe164=) c.459C>T (p.Phe153=) c.711C>T (p.Phe237=) c.614-1131C>T (n.614-1131C>T) c.687C>T (p.Phe229=) c.383-1131C>T (n.383-1131C>T) | |
| 6 | g.73636631G>C | CA364716432 | SLC17A5 | c.690C>G (p.Phe230Leu) n.456C>G c.639C>G (p.Phe213Leu) c.492C>G (p.Phe164Leu) c.459C>G (p.Phe153Leu) c.711C>G (p.Phe237Leu) c.614-1131C>G (n.614-1131C>G) c.687C>G (p.Phe229Leu) c.383-1131C>G (n.383-1131C>G) | |
| 6 | g.73636631G>T | CA364716434 | SLC17A5 | c.690C>A (p.Phe230Leu) n.456C>A c.639C>A (p.Phe213Leu) c.492C>A (p.Phe164Leu) c.459C>A (p.Phe153Leu) c.711C>A (p.Phe237Leu) c.614-1131C>A (n.614-1131C>A) c.687C>A (p.Phe229Leu) c.383-1131C>A (n.383-1131C>A) | |
| 6 | g.73636632A>C | CA364716435 | SLC17A5 | c.689T>G (p.Phe230Cys) n.455T>G c.638T>G (p.Phe213Cys) c.491T>G (p.Phe164Cys) c.458T>G (p.Phe153Cys) c.710T>G (p.Phe237Cys) c.614-1132T>G (n.614-1132T>G) c.686T>G (p.Phe229Cys) c.383-1132T>G (n.383-1132T>G) | |
| 6 | g.73636632A>G | CA364716437 | SLC17A5 | c.689T>C (p.Phe230Ser) n.455T>C c.638T>C (p.Phe213Ser) c.491T>C (p.Phe164Ser) c.458T>C (p.Phe153Ser) c.710T>C (p.Phe237Ser) c.614-1132T>C (n.614-1132T>C) c.686T>C (p.Phe229Ser) c.383-1132T>C (n.383-1132T>C) | |
| 6 | g.73636632A>T | CA364716438 | SLC17A5 | c.689T>A (p.Phe230Tyr) n.455T>A c.638T>A (p.Phe213Tyr) c.491T>A (p.Phe164Tyr) c.458T>A (p.Phe153Tyr) c.710T>A (p.Phe237Tyr) c.614-1132T>A (n.614-1132T>A) c.686T>A (p.Phe229Tyr) c.383-1132T>A (n.383-1132T>A) | |
| 6 | g.73636633A>C | CA364716442 | SLC17A5 | c.688T>G (p.Phe230Val) n.454T>G c.637T>G (p.Phe213Val) c.490T>G (p.Phe164Val) c.457T>G (p.Phe153Val) c.709T>G (p.Phe237Val) c.614-1133T>G (n.614-1133T>G) c.685T>G (p.Phe229Val) c.383-1133T>G (n.383-1133T>G) | |
| 6 | g.73636633A>G | CA364716443 | SLC17A5 | c.688T>C (p.Phe230Leu) n.454T>C c.637T>C (p.Phe213Leu) c.490T>C (p.Phe164Leu) c.457T>C (p.Phe153Leu) c.709T>C (p.Phe237Leu) c.614-1133T>C (n.614-1133T>C) c.685T>C (p.Phe229Leu) c.383-1133T>C (n.383-1133T>C) | |
| 6 | g.73636633A>T | CA364716440 | SLC17A5 | c.688T>A (p.Phe230Ile) n.454T>A c.637T>A (p.Phe213Ile) c.490T>A (p.Phe164Ile) c.457T>A (p.Phe153Ile) c.709T>A (p.Phe237Ile) c.614-1133T>A (n.614-1133T>A) c.685T>A (p.Phe229Ile) c.383-1133T>A (n.383-1133T>A) | |
| 6 | g.73636634G>A | CA450911946 | SLC17A5 | c.687C>T (p.Val229=) n.453C>T c.636C>T (p.Val212=) c.489C>T (p.Val163=) c.456C>T (p.Val152=) c.708C>T (p.Val236=) c.614-1134C>T (n.614-1134C>T) c.684C>T (p.Val228=) c.383-1134C>T (n.383-1134C>T) | |
| 6 | g.73636634G>C | CA450911948 | SLC17A5 | c.687C>G (p.Val229=) n.453C>G c.636C>G (p.Val212=) c.489C>G (p.Val163=) c.456C>G (p.Val152=) c.708C>G (p.Val236=) c.614-1134C>G (n.614-1134C>G) c.684C>G (p.Val228=) c.383-1134C>G (n.383-1134C>G) | |
| 6 | g.73636634G>T | CA450911947 | SLC17A5 | c.687C>A (p.Val229=) n.453C>A c.636C>A (p.Val212=) c.489C>A (p.Val163=) c.456C>A (p.Val152=) c.708C>A (p.Val236=) c.614-1134C>A (n.614-1134C>A) c.684C>A (p.Val228=) c.383-1134C>A (n.383-1134C>A) | gnomAD v4 |
| 6 | g.73636635A>C | CA364716445 | SLC17A5 | c.686T>G (p.Val229Gly) n.452T>G c.635T>G (p.Val212Gly) c.488T>G (p.Val163Gly) c.455T>G (p.Val152Gly) c.707T>G (p.Val236Gly) c.614-1135T>G (n.614-1135T>G) c.683T>G (p.Val228Gly) c.383-1135T>G (n.383-1135T>G) | |
| 6 | g.73636635A>G | CA364716447 | SLC17A5 | c.686T>C (p.Val229Ala) n.452T>C c.635T>C (p.Val212Ala) c.488T>C (p.Val163Ala) c.455T>C (p.Val152Ala) c.707T>C (p.Val236Ala) c.614-1135T>C (n.614-1135T>C) c.683T>C (p.Val228Ala) c.383-1135T>C (n.383-1135T>C) | |
| 6 | g.73636635A>T | CA364716449 | SLC17A5 | c.686T>A (p.Val229Asp) n.452T>A c.635T>A (p.Val212Asp) c.488T>A (p.Val163Asp) c.455T>A (p.Val152Asp) c.707T>A (p.Val236Asp) c.614-1135T>A (n.614-1135T>A) c.683T>A (p.Val228Asp) c.383-1135T>A (n.383-1135T>A) | |
| 6 | g.73636636C>A | CA364716450 | SLC17A5 | c.685G>T (p.Val229Phe) n.451G>T c.634G>T (p.Val212Phe) c.487G>T (p.Val163Phe) c.454G>T (p.Val152Phe) c.706G>T (p.Val236Phe) c.614-1136G>T (n.614-1136G>T) c.682G>T (p.Val228Phe) c.383-1136G>T (n.383-1136G>T) | |
| 6 | g.73636636C>G | CA364716452 | SLC17A5 | c.685G>C (p.Val229Leu) n.451G>C c.634G>C (p.Val212Leu) c.487G>C (p.Val163Leu) c.454G>C (p.Val152Leu) c.706G>C (p.Val236Leu) c.614-1136G>C (n.614-1136G>C) c.682G>C (p.Val228Leu) c.383-1136G>C (n.383-1136G>C) | |
| 6 | g.73636636C>T | CA364716453 | SLC17A5 | c.685G>A (p.Val229Ile) n.451G>A c.634G>A (p.Val212Ile) c.487G>A (p.Val163Ile) c.454G>A (p.Val152Ile) c.706G>A (p.Val236Ile) c.614-1136G>A (n.614-1136G>A) c.682G>A (p.Val228Ile) c.383-1136G>A (n.383-1136G>A) | gnomAD v4 |
| 6 | g.73636637A= | CA1638219055 | SLC17A5 | c.684T= (p.Tyr228=) n.450T= c.633T= (p.Tyr211=) c.486T= (p.Tyr162=) c.453T= (p.Tyr151=) c.705T= (p.Tyr235=) c.614-1137T= (n.614-1137T=) c.681T= (p.Tyr227=) c.383-1137T= (n.383-1137T=) | |
| 6 | g.73636637A>C | CA364716457 | SLC17A5 | c.684T>G (p.Tyr228Ter) n.450T>G c.633T>G (p.Tyr211Ter) c.486T>G (p.Tyr162Ter) c.453T>G (p.Tyr151Ter) c.705T>G (p.Tyr235Ter) c.614-1137T>G (n.614-1137T>G) c.681T>G (p.Tyr227Ter) c.383-1137T>G (n.383-1137T>G) | ClinVar |
| 6 | g.73636637A>G | CA450911949 | SLC17A5 | c.684T>C (p.Tyr228=) n.450T>C c.633T>C (p.Tyr211=) c.486T>C (p.Tyr162=) c.453T>C (p.Tyr151=) c.705T>C (p.Tyr235=) c.614-1137T>C (n.614-1137T>C) c.681T>C (p.Tyr227=) c.383-1137T>C (n.383-1137T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73636637A>T | CA364716455 | SLC17A5 | c.684T>A (p.Tyr228Ter) n.450T>A c.633T>A (p.Tyr211Ter) c.486T>A (p.Tyr162Ter) c.453T>A (p.Tyr151Ter) c.705T>A (p.Tyr235Ter) c.614-1137T>A (n.614-1137T>A) c.681T>A (p.Tyr227Ter) c.383-1137T>A (n.383-1137T>A) | |
| 6 | g.73636638T>A | CA364716459 | SLC17A5 | c.683A>T (p.Tyr228Phe) n.449A>T c.632A>T (p.Tyr211Phe) c.485A>T (p.Tyr162Phe) c.452A>T (p.Tyr151Phe) c.704A>T (p.Tyr235Phe) c.614-1138A>T (n.614-1138A>T) c.680A>T (p.Tyr227Phe) c.383-1138A>T (n.383-1138A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73636638T>C | CA364716461 | SLC17A5 | c.683A>G (p.Tyr228Cys) n.449A>G c.632A>G (p.Tyr211Cys) c.485A>G (p.Tyr162Cys) c.452A>G (p.Tyr151Cys) c.704A>G (p.Tyr235Cys) c.614-1138A>G (n.614-1138A>G) c.680A>G (p.Tyr227Cys) c.383-1138A>G (n.383-1138A>G) | gnomAD v4 |
| 6 | g.73636638T>G | CA364716462 | SLC17A5 | c.683A>C (p.Tyr228Ser) n.449A>C c.632A>C (p.Tyr211Ser) c.485A>C (p.Tyr162Ser) c.452A>C (p.Tyr151Ser) c.704A>C (p.Tyr235Ser) c.614-1138A>C (n.614-1138A>C) c.680A>C (p.Tyr227Ser) c.383-1138A>C (n.383-1138A>C) | |
| 6 | g.73636638T= | CA1638219061 | SLC17A5 | c.683A= (p.Tyr228=) n.449A= c.632A= (p.Tyr211=) c.485A= (p.Tyr162=) c.452A= (p.Tyr151=) c.704A= (p.Tyr235=) c.614-1138A= (n.614-1138A=) c.680A= (p.Tyr227=) c.383-1138A= (n.383-1138A=) | |
| 6 | g.73636639A= | CA1638219068 | SLC17A5 | c.682T= (p.Tyr228=) n.448T= c.631T= (p.Tyr211=) c.484T= (p.Tyr162=) c.451T= (p.Tyr151=) c.703T= (p.Tyr235=) c.614-1139T= (n.614-1139T=) c.679T= (p.Tyr227=) c.383-1139T= (n.383-1139T=) | |
| 6 | g.73636639A>C | CA364716464 | SLC17A5 | c.682T>G (p.Tyr228Asp) n.448T>G c.631T>G (p.Tyr211Asp) c.484T>G (p.Tyr162Asp) c.451T>G (p.Tyr151Asp) c.703T>G (p.Tyr235Asp) c.614-1139T>G (n.614-1139T>G) c.679T>G (p.Tyr227Asp) c.383-1139T>G (n.383-1139T>G) | |
| 6 | g.73636639A>G | CA364716465 | SLC17A5 | c.682T>C (p.Tyr228His) n.448T>C c.631T>C (p.Tyr211His) c.484T>C (p.Tyr162His) c.451T>C (p.Tyr151His) c.703T>C (p.Tyr235His) c.614-1139T>C (n.614-1139T>C) c.679T>C (p.Tyr227His) c.383-1139T>C (n.383-1139T>C) | |
| 6 | g.73636639A>T | CA3890469 | SLC17A5 | c.682T>A (p.Tyr228Asn) n.448T>A c.631T>A (p.Tyr211Asn) c.484T>A (p.Tyr162Asn) c.451T>A (p.Tyr151Asn) c.703T>A (p.Tyr235Asn) c.614-1139T>A (n.614-1139T>A) c.679T>A (p.Tyr227Asn) c.383-1139T>A (n.383-1139T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636640A>C | CA450911950 | SLC17A5 | c.681T>G (p.Thr227=) n.447T>G c.630T>G (p.Thr210=) c.483T>G (p.Thr161=) c.450T>G (p.Thr150=) c.702T>G (p.Thr234=) c.614-1140T>G (n.614-1140T>G) c.678T>G (p.Thr226=) c.383-1140T>G (n.383-1140T>G) | gnomAD v4 |
| 6 | g.73636640A>G | CA450911951 | SLC17A5 | c.681T>C (p.Thr227=) n.447T>C c.630T>C (p.Thr210=) c.483T>C (p.Thr161=) c.450T>C (p.Thr150=) c.702T>C (p.Thr234=) c.614-1140T>C (n.614-1140T>C) c.678T>C (p.Thr226=) c.383-1140T>C (n.383-1140T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73636640A>T | CA450911952 | SLC17A5 | c.681T>A (p.Thr227=) n.447T>A c.630T>A (p.Thr210=) c.483T>A (p.Thr161=) c.450T>A (p.Thr150=) c.702T>A (p.Thr234=) c.614-1140T>A (n.614-1140T>A) c.678T>A (p.Thr226=) c.383-1140T>A (n.383-1140T>A) | |
| 6 | g.73636641G>A | CA364716467 | SLC17A5 | c.680C>T (p.Thr227Ile) n.446C>T c.629C>T (p.Thr210Ile) c.482C>T (p.Thr161Ile) c.449C>T (p.Thr150Ile) c.701C>T (p.Thr234Ile) c.614-1141C>T (n.614-1141C>T) c.677C>T (p.Thr226Ile) c.383-1141C>T (n.383-1141C>T) | gnomAD v4 |
| 6 | g.73636641G>C | CA364716471 | SLC17A5 | c.680C>G (p.Thr227Ser) n.446C>G c.629C>G (p.Thr210Ser) c.482C>G (p.Thr161Ser) c.449C>G (p.Thr150Ser) c.701C>G (p.Thr234Ser) c.614-1141C>G (n.614-1141C>G) c.677C>G (p.Thr226Ser) c.383-1141C>G (n.383-1141C>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73636641G>T | CA364716470 | SLC17A5 | c.680C>A (p.Thr227Asn) n.446C>A c.629C>A (p.Thr210Asn) c.482C>A (p.Thr161Asn) c.449C>A (p.Thr150Asn) c.701C>A (p.Thr234Asn) c.614-1141C>A (n.614-1141C>A) c.677C>A (p.Thr226Asn) c.383-1141C>A (n.383-1141C>A) | ClinVar gnomAD v4 |
| 6 | g.73636642T>A | CA364716473 | SLC17A5 | c.679A>T (p.Thr227Ser) n.445A>T c.628A>T (p.Thr210Ser) c.481A>T (p.Thr161Ser) c.448A>T (p.Thr150Ser) c.700A>T (p.Thr234Ser) c.614-1142A>T (n.614-1142A>T) c.676A>T (p.Thr226Ser) c.383-1142A>T (n.383-1142A>T) | |
| 6 | g.73636642T>C | CA364716475 | SLC17A5 | c.679A>G (p.Thr227Ala) n.445A>G c.628A>G (p.Thr210Ala) c.481A>G (p.Thr161Ala) c.448A>G (p.Thr150Ala) c.700A>G (p.Thr234Ala) c.614-1142A>G (n.614-1142A>G) c.676A>G (p.Thr226Ala) c.383-1142A>G (n.383-1142A>G) |