UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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) | |
| 6 | g.73636642T>G | CA364716476 | SLC17A5 | c.679A>C (p.Thr227Pro) n.445A>C c.628A>C (p.Thr210Pro) c.481A>C (p.Thr161Pro) c.448A>C (p.Thr150Pro) c.700A>C (p.Thr234Pro) c.614-1142A>C (n.614-1142A>C) c.676A>C (p.Thr226Pro) c.383-1142A>C (n.383-1142A>C) | |
| 6 | g.73636643C>A | CA364716478 | SLC17A5 | c.678G>T (p.Trp226Cys) n.444G>T c.627G>T (p.Trp209Cys) c.480G>T (p.Trp160Cys) c.447G>T (p.Trp149Cys) c.699G>T (p.Trp233Cys) c.614-1143G>T (n.614-1143G>T) c.675G>T (p.Trp225Cys) c.383-1143G>T (n.383-1143G>T) | |
| 6 | g.73636643C>G | CA364716479 | SLC17A5 | c.678G>C (p.Trp226Cys) n.444G>C c.627G>C (p.Trp209Cys) c.480G>C (p.Trp160Cys) c.447G>C (p.Trp149Cys) c.699G>C (p.Trp233Cys) c.614-1143G>C (n.614-1143G>C) c.675G>C (p.Trp225Cys) c.383-1143G>C (n.383-1143G>C) | |
| 6 | g.73636643C>T | CA364716480 | SLC17A5 | c.678G>A (p.Trp226Ter) n.444G>A c.627G>A (p.Trp209Ter) c.480G>A (p.Trp160Ter) c.447G>A (p.Trp149Ter) c.699G>A (p.Trp233Ter) c.614-1143G>A (n.614-1143G>A) c.675G>A (p.Trp225Ter) c.383-1143G>A (n.383-1143G>A) | |
| 6 | g.73636644C>A | CA364716482 | SLC17A5 | c.677G>T (p.Trp226Leu) n.443G>T c.626G>T (p.Trp209Leu) c.479G>T (p.Trp160Leu) c.446G>T (p.Trp149Leu) c.698G>T (p.Trp233Leu) c.614-1144G>T (n.614-1144G>T) c.674G>T (p.Trp225Leu) c.383-1144G>T (n.383-1144G>T) | |
| 6 | g.73636644C>G | CA364716483 | SLC17A5 | c.677G>C (p.Trp226Ser) n.443G>C c.626G>C (p.Trp209Ser) c.479G>C (p.Trp160Ser) c.446G>C (p.Trp149Ser) c.698G>C (p.Trp233Ser) c.614-1144G>C (n.614-1144G>C) c.674G>C (p.Trp225Ser) c.383-1144G>C (n.383-1144G>C) | |
| 6 | g.73636644C>T | CA364716485 | SLC17A5 | c.677G>A (p.Trp226Ter) n.443G>A c.626G>A (p.Trp209Ter) c.479G>A (p.Trp160Ter) c.446G>A (p.Trp149Ter) c.698G>A (p.Trp233Ter) c.614-1144G>A (n.614-1144G>A) c.674G>A (p.Trp225Ter) c.383-1144G>A (n.383-1144G>A) | gnomAD v4 |
| 6 | g.73636645A>C | CA364716487 | SLC17A5 | c.676T>G (p.Trp226Gly) n.442T>G c.625T>G (p.Trp209Gly) c.478T>G (p.Trp160Gly) c.445T>G (p.Trp149Gly) c.697T>G (p.Trp233Gly) c.614-1145T>G (n.614-1145T>G) c.673T>G (p.Trp225Gly) c.383-1145T>G (n.383-1145T>G) | |
| 6 | g.73636645A>G | CA364716488 | SLC17A5 | c.676T>C (p.Trp226Arg) n.442T>C c.625T>C (p.Trp209Arg) c.478T>C (p.Trp160Arg) c.445T>C (p.Trp149Arg) c.697T>C (p.Trp233Arg) c.614-1145T>C (n.614-1145T>C) c.673T>C (p.Trp225Arg) c.383-1145T>C (n.383-1145T>C) | |
| 6 | g.73636645A>T | CA364716489 | SLC17A5 | c.676T>A (p.Trp226Arg) n.442T>A c.625T>A (p.Trp209Arg) c.478T>A (p.Trp160Arg) c.445T>A (p.Trp149Arg) c.697T>A (p.Trp233Arg) c.614-1145T>A (n.614-1145T>A) c.673T>A (p.Trp225Arg) c.383-1145T>A (n.383-1145T>A) | |
| 6 | g.73636646A>C | CA364716491 | SLC17A5 | c.675T>G (p.Asn225Lys) n.441T>G c.624T>G (p.Asn208Lys) c.477T>G (p.Asn159Lys) c.444T>G (p.Asn148Lys) c.696T>G (p.Asn232Lys) c.614-1146T>G (n.614-1146T>G) c.672T>G (p.Asn224Lys) c.383-1146T>G (n.383-1146T>G) | |
| 6 | g.73636646A>G | CA450911953 | SLC17A5 | c.675T>C (p.Asn225=) n.441T>C c.624T>C (p.Asn208=) c.477T>C (p.Asn159=) c.444T>C (p.Asn148=) c.696T>C (p.Asn232=) c.614-1146T>C (n.614-1146T>C) c.672T>C (p.Asn224=) c.383-1146T>C (n.383-1146T>C) | |
| 6 | g.73636646A>T | CA364716493 | SLC17A5 | c.675T>A (p.Asn225Lys) n.441T>A c.624T>A (p.Asn208Lys) c.477T>A (p.Asn159Lys) c.444T>A (p.Asn148Lys) c.696T>A (p.Asn232Lys) c.614-1146T>A (n.614-1146T>A) c.672T>A (p.Asn224Lys) c.383-1146T>A (n.383-1146T>A) | |
| 6 | g.73636647T>A | CA364716495 | SLC17A5 | c.674A>T (p.Asn225Ile) n.440A>T c.623A>T (p.Asn208Ile) c.476A>T (p.Asn159Ile) c.443A>T (p.Asn148Ile) c.695A>T (p.Asn232Ile) c.614-1147A>T (n.614-1147A>T) c.671A>T (p.Asn224Ile) c.383-1147A>T (n.383-1147A>T) | |
| 6 | g.73636647T>C | CA364716498 | SLC17A5 | c.674A>G (p.Asn225Ser) n.440A>G c.623A>G (p.Asn208Ser) c.476A>G (p.Asn159Ser) c.443A>G (p.Asn148Ser) c.695A>G (p.Asn232Ser) c.614-1147A>G (n.614-1147A>G) c.671A>G (p.Asn224Ser) c.383-1147A>G (n.383-1147A>G) | |
| 6 | g.73636647T>G | CA364716496 | SLC17A5 | c.674A>C (p.Asn225Thr) n.440A>C c.623A>C (p.Asn208Thr) c.476A>C (p.Asn159Thr) c.443A>C (p.Asn148Thr) c.695A>C (p.Asn232Thr) c.614-1147A>C (n.614-1147A>C) c.671A>C (p.Asn224Thr) c.383-1147A>C (n.383-1147A>C) | |
| 6 | g.73636648T>A | CA3890470 | SLC17A5 | c.673A>T (p.Asn225Tyr) n.439A>T c.622A>T (p.Asn208Tyr) c.475A>T (p.Asn159Tyr) c.442A>T (p.Asn148Tyr) c.694A>T (p.Asn232Tyr) c.614-1148A>T (n.614-1148A>T) c.670A>T (p.Asn224Tyr) c.383-1148A>T (n.383-1148A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636648T>C | CA364716500 | SLC17A5 | c.673A>G (p.Asn225Asp) n.439A>G c.622A>G (p.Asn208Asp) c.475A>G (p.Asn159Asp) c.442A>G (p.Asn148Asp) c.694A>G (p.Asn232Asp) c.614-1148A>G (n.614-1148A>G) c.670A>G (p.Asn224Asp) c.383-1148A>G (n.383-1148A>G) | gnomAD v4 |
| 6 | g.73636648T>G | CA364716501 | SLC17A5 | c.673A>C (p.Asn225His) n.439A>C c.622A>C (p.Asn208His) c.475A>C (p.Asn159His) c.442A>C (p.Asn148His) c.694A>C (p.Asn232His) c.614-1148A>C (n.614-1148A>C) c.670A>C (p.Asn224His) c.383-1148A>C (n.383-1148A>C) | |
| 6 | g.73636648T= | CA1638219072 | SLC17A5 | c.673A= (p.Asn225=) n.439A= c.622A= (p.Asn208=) c.475A= (p.Asn159=) c.442A= (p.Asn148=) c.694A= (p.Asn232=) c.614-1148A= (n.614-1148A=) c.670A= (p.Asn224=) c.383-1148A= (n.383-1148A=) | |
| 6 | g.73636649C>A | CA364716504 | SLC17A5 | c.672G>T (p.Met224Ile) n.438G>T c.621G>T (p.Met207Ile) c.474G>T (p.Met158Ile) c.441G>T (p.Met147Ile) c.693G>T (p.Met231Ile) c.614-1149G>T (n.614-1149G>T) c.669G>T (p.Met223Ile) c.383-1149G>T (n.383-1149G>T) | |
| 6 | g.73636649C>G | CA364716505 | SLC17A5 | c.672G>C (p.Met224Ile) n.438G>C c.621G>C (p.Met207Ile) c.474G>C (p.Met158Ile) c.441G>C (p.Met147Ile) c.693G>C (p.Met231Ile) c.614-1149G>C (n.614-1149G>C) c.669G>C (p.Met223Ile) c.383-1149G>C (n.383-1149G>C) | |
| 6 | g.73636649C>T | CA364716507 | SLC17A5 | c.672G>A (p.Met224Ile) n.438G>A c.621G>A (p.Met207Ile) c.474G>A (p.Met158Ile) c.441G>A (p.Met147Ile) c.693G>A (p.Met231Ile) c.614-1149G>A (n.614-1149G>A) c.669G>A (p.Met223Ile) c.383-1149G>A (n.383-1149G>A) | |
| 6 | g.73636650A= | CA1638219076 | SLC17A5 | c.671T= (p.Met224=) n.437T= c.620T= (p.Met207=) c.473T= (p.Met158=) c.440T= (p.Met147=) c.692T= (p.Met231=) c.614-1150T= (n.614-1150T=) c.668T= (p.Met223=) c.383-1150T= (n.383-1150T=) | |
| 6 | g.73636650A>C | CA364716508 | SLC17A5 | c.671T>G (p.Met224Arg) n.437T>G c.620T>G (p.Met207Arg) c.473T>G (p.Met158Arg) c.440T>G (p.Met147Arg) c.692T>G (p.Met231Arg) c.614-1150T>G (n.614-1150T>G) c.668T>G (p.Met223Arg) c.383-1150T>G (n.383-1150T>G) | |
| 6 | g.73636650A>G | CA364716509 | SLC17A5 | c.671T>C (p.Met224Thr) n.437T>C c.620T>C (p.Met207Thr) c.473T>C (p.Met158Thr) c.440T>C (p.Met147Thr) c.692T>C (p.Met231Thr) c.614-1150T>C (n.614-1150T>C) c.668T>C (p.Met223Thr) c.383-1150T>C (n.383-1150T>C) | dbSNP |
| 6 | g.73636650A>T | CA364716510 | SLC17A5 | c.671T>A (p.Met224Lys) n.437T>A c.620T>A (p.Met207Lys) c.473T>A (p.Met158Lys) c.440T>A (p.Met147Lys) c.692T>A (p.Met231Lys) c.614-1150T>A (n.614-1150T>A) c.668T>A (p.Met223Lys) c.383-1150T>A (n.383-1150T>A) | |
| 6 | g.73636651T>A | CA364716511 | SLC17A5 | c.670A>T (p.Met224Leu) n.436A>T c.619A>T (p.Met207Leu) c.472A>T (p.Met158Leu) c.439A>T (p.Met147Leu) c.691A>T (p.Met231Leu) c.614-1151A>T (n.614-1151A>T) c.667A>T (p.Met223Leu) c.383-1151A>T (n.383-1151A>T) | |
| 6 | g.73636651T>C | CA364716512 | SLC17A5 | c.670A>G (p.Met224Val) n.436A>G c.619A>G (p.Met207Val) c.472A>G (p.Met158Val) c.439A>G (p.Met147Val) c.691A>G (p.Met231Val) c.614-1151A>G (n.614-1151A>G) c.667A>G (p.Met223Val) c.383-1151A>G (n.383-1151A>G) | dbSNP |
| 6 | g.73636651T>G | CA364716513 | SLC17A5 | c.670A>C (p.Met224Leu) n.436A>C c.619A>C (p.Met207Leu) c.472A>C (p.Met158Leu) c.439A>C (p.Met147Leu) c.691A>C (p.Met231Leu) c.614-1151A>C (n.614-1151A>C) c.667A>C (p.Met223Leu) c.383-1151A>C (n.383-1151A>C) | |
| 6 | g.73636651T= | CA1638219079 | SLC17A5 | c.670A= (p.Met224=) n.436A= c.619A= (p.Met207=) c.472A= (p.Met158=) c.439A= (p.Met147=) c.691A= (p.Met231=) c.614-1151A= (n.614-1151A=) c.667A= (p.Met223=) c.383-1151A= (n.383-1151A=) | |
| 6 | g.73636652A>C | CA364716515 | SLC17A5 | c.669T>G (p.Tyr223Ter) n.435T>G c.618T>G (p.Tyr206Ter) c.471T>G (p.Tyr157Ter) c.438T>G (p.Tyr146Ter) c.690T>G (p.Tyr230Ter) c.614-1152T>G (n.614-1152T>G) c.666T>G (p.Tyr222Ter) c.383-1152T>G (n.383-1152T>G) | |
| 6 | g.73636652A>G | CA450911954 | SLC17A5 | c.669T>C (p.Tyr223=) n.435T>C c.618T>C (p.Tyr206=) c.471T>C (p.Tyr157=) c.438T>C (p.Tyr146=) c.690T>C (p.Tyr230=) c.614-1152T>C (n.614-1152T>C) c.666T>C (p.Tyr222=) c.383-1152T>C (n.383-1152T>C) | |
| 6 | g.73636652A>T | CA364716516 | SLC17A5 | c.669T>A (p.Tyr223Ter) n.435T>A c.618T>A (p.Tyr206Ter) c.471T>A (p.Tyr157Ter) c.438T>A (p.Tyr146Ter) c.690T>A (p.Tyr230Ter) c.614-1152T>A (n.614-1152T>A) c.666T>A (p.Tyr222Ter) c.383-1152T>A (n.383-1152T>A) | |
| 6 | g.73636653T>A | CA364716519 | SLC17A5 | c.668A>T (p.Tyr223Phe) n.434A>T c.617A>T (p.Tyr206Phe) c.470A>T (p.Tyr157Phe) c.437A>T (p.Tyr146Phe) c.689A>T (p.Tyr230Phe) c.614-1153A>T (n.614-1153A>T) c.665A>T (p.Tyr222Phe) c.383-1153A>T (n.383-1153A>T) | |
| 6 | g.73636653T>C | CA364716520 | SLC17A5 | c.668A>G (p.Tyr223Cys) n.434A>G c.617A>G (p.Tyr206Cys) c.470A>G (p.Tyr157Cys) c.437A>G (p.Tyr146Cys) c.689A>G (p.Tyr230Cys) c.614-1153A>G (n.614-1153A>G) c.665A>G (p.Tyr222Cys) c.383-1153A>G (n.383-1153A>G) | gnomAD v4 |
| 6 | g.73636653T>G | CA364716521 | SLC17A5 | c.668A>C (p.Tyr223Ser) n.434A>C c.617A>C (p.Tyr206Ser) c.470A>C (p.Tyr157Ser) c.437A>C (p.Tyr146Ser) c.689A>C (p.Tyr230Ser) c.614-1153A>C (n.614-1153A>C) c.665A>C (p.Tyr222Ser) c.383-1153A>C (n.383-1153A>C) | |
| 6 | g.73636653T= | CA1638219083 | SLC17A5 | c.668A= (p.Tyr223=) n.434A= c.617A= (p.Tyr206=) c.470A= (p.Tyr157=) c.437A= (p.Tyr146=) c.689A= (p.Tyr230=) c.614-1153A= (n.614-1153A=) c.665A= (p.Tyr222=) c.383-1153A= (n.383-1153A=) | |
| 6 | g.73636653dup | CA913111545 | SLC17A5 | c.668dup (p.Tyr223Ter) n.434dup c.617dup (p.Tyr206Ter) c.470dup (p.Tyr157Ter) c.437dup (p.Tyr146Ter) c.689dup (p.Tyr230Ter) c.614-1153dup (n.614-1153dup) c.665dup (p.Tyr222Ter) c.383-1153dup (n.383-1153dup) | |
| 6 | g.73636654A>C | CA364716522 | SLC17A5 | c.667T>G (p.Tyr223Asp) n.433T>G c.616T>G (p.Tyr206Asp) c.469T>G (p.Tyr157Asp) c.436T>G (p.Tyr146Asp) c.688T>G (p.Tyr230Asp) c.614-1154T>G (n.614-1154T>G) c.664T>G (p.Tyr222Asp) c.383-1154T>G (n.383-1154T>G) | |
| 6 | g.73636654A>G | CA364716523 | SLC17A5 | c.667T>C (p.Tyr223His) n.433T>C c.616T>C (p.Tyr206His) c.469T>C (p.Tyr157His) c.436T>C (p.Tyr146His) c.688T>C (p.Tyr230His) c.614-1154T>C (n.614-1154T>C) c.664T>C (p.Tyr222His) c.383-1154T>C (n.383-1154T>C) | |
| 6 | g.73636654A>T | CA364716524 | SLC17A5 | c.667T>A (p.Tyr223Asn) n.433T>A c.616T>A (p.Tyr206Asn) c.469T>A (p.Tyr157Asn) c.436T>A (p.Tyr146Asn) c.688T>A (p.Tyr230Asn) c.614-1154T>A (n.614-1154T>A) c.664T>A (p.Tyr222Asn) c.383-1154T>A (n.383-1154T>A) | |
| 6 | g.73636654dup | CA567686240 | SLC17A5 | c.667dup (p.Tyr223LeufsTer27) n.433dup c.616dup (p.Tyr206LeufsTer27) c.469dup (p.Tyr157LeufsTer27) c.436dup (p.Tyr146LeufsTer27) c.688dup (p.Tyr230LeufsTer27) c.614-1154dup (n.614-1154dup) c.664dup (p.Tyr222LeufsTer27) c.383-1154dup (n.383-1154dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636655G>A | CA450911956 | SLC17A5 | c.666C>T (p.Tyr222=) n.432C>T c.615C>T (p.Tyr205=) c.468C>T (p.Tyr156=) c.435C>T (p.Tyr145=) c.687C>T (p.Tyr229=) c.614-1155C>T (n.614-1155C>T) c.663C>T (p.Tyr221=) c.383-1155C>T (n.383-1155C>T) | |
| 6 | g.73636655G>C | CA364716525 | SLC17A5 | c.666C>G (p.Tyr222Ter) n.432C>G c.615C>G (p.Tyr205Ter) c.468C>G (p.Tyr156Ter) c.435C>G (p.Tyr145Ter) c.687C>G (p.Tyr229Ter) c.614-1155C>G (n.614-1155C>G) c.663C>G (p.Tyr221Ter) c.383-1155C>G (n.383-1155C>G) | |
| 6 | g.73636655G>T | CA364716527 | SLC17A5 | c.666C>A (p.Tyr222Ter) n.432C>A c.615C>A (p.Tyr205Ter) c.468C>A (p.Tyr156Ter) c.435C>A (p.Tyr145Ter) c.687C>A (p.Tyr229Ter) c.614-1155C>A (n.614-1155C>A) c.663C>A (p.Tyr221Ter) c.383-1155C>A (n.383-1155C>A) | |
| 6 | g.73636656T>A | CA364716528 | SLC17A5 | c.665A>T (p.Tyr222Phe) n.431A>T c.614A>T (p.Tyr205Phe) c.467A>T (p.Tyr156Phe) c.434A>T (p.Tyr145Phe) c.686A>T (p.Tyr229Phe) c.614-1156A>T (n.614-1156A>T) c.662A>T (p.Tyr221Phe) c.383-1156A>T (n.383-1156A>T) | |
| 6 | g.73636656T>C | CA3890471 | SLC17A5 | c.665A>G (p.Tyr222Cys) n.431A>G c.614A>G (p.Tyr205Cys) c.467A>G (p.Tyr156Cys) c.434A>G (p.Tyr145Cys) c.686A>G (p.Tyr229Cys) c.614-1156A>G (n.614-1156A>G) c.662A>G (p.Tyr221Cys) c.383-1156A>G (n.383-1156A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636656T>G | CA364716531 | SLC17A5 | c.665A>C (p.Tyr222Ser) n.431A>C c.614A>C (p.Tyr205Ser) c.467A>C (p.Tyr156Ser) c.434A>C (p.Tyr145Ser) c.686A>C (p.Tyr229Ser) c.614-1156A>C (n.614-1156A>C) c.662A>C (p.Tyr221Ser) c.383-1156A>C (n.383-1156A>C) | |
| 6 | g.73636656T= | CA1638219091 | SLC17A5 | c.665A= (p.Tyr222=) n.431A= c.614A= (p.Tyr205=) c.467A= (p.Tyr156=) c.434A= (p.Tyr145=) c.686A= (p.Tyr229=) c.614-1156A= (n.614-1156A=) c.662A= (p.Tyr221=) c.383-1156A= (n.383-1156A=) | |
| 6 | g.73636657A>C | CA364716533 | SLC17A5 | c.664T>G (p.Tyr222Asp) n.430T>G c.613T>G (p.Tyr205Asp) c.466T>G (p.Tyr156Asp) c.433T>G (p.Tyr145Asp) c.685T>G (p.Tyr229Asp) c.614-1157T>G (n.614-1157T>G) c.661T>G (p.Tyr221Asp) c.383-1157T>G (n.383-1157T>G) | |
| 6 | g.73636657A>G | CA364716535 | SLC17A5 | c.664T>C (p.Tyr222His) n.430T>C c.613T>C (p.Tyr205His) c.466T>C (p.Tyr156His) c.433T>C (p.Tyr145His) c.685T>C (p.Tyr229His) c.614-1157T>C (n.614-1157T>C) c.661T>C (p.Tyr221His) c.383-1157T>C (n.383-1157T>C) | |
| 6 | g.73636657A>T | CA364716532 | SLC17A5 | c.664T>A (p.Tyr222Asn) n.430T>A c.613T>A (p.Tyr205Asn) c.466T>A (p.Tyr156Asn) c.433T>A (p.Tyr145Asn) c.685T>A (p.Tyr229Asn) c.614-1157T>A (n.614-1157T>A) c.661T>A (p.Tyr221Asn) c.383-1157T>A (n.383-1157T>A) | |
| 6 | g.73636658G>A | CA450911957 | SLC17A5 | c.663C>T (p.Cys221=) n.429C>T c.612C>T (p.Cys204=) c.465C>T (p.Cys155=) c.432C>T (p.Cys144=) c.684C>T (p.Cys228=) c.614-1158C>T (n.614-1158C>T) c.660C>T (p.Cys220=) c.383-1158C>T (n.383-1158C>T) | ClinVar |
| 6 | g.73636658G>C | CA364716537 | SLC17A5 | c.663C>G (p.Cys221Trp) n.429C>G c.612C>G (p.Cys204Trp) c.465C>G (p.Cys155Trp) c.432C>G (p.Cys144Trp) c.684C>G (p.Cys228Trp) c.614-1158C>G (n.614-1158C>G) c.660C>G (p.Cys220Trp) c.383-1158C>G (n.383-1158C>G) | |
| 6 | g.73636658G>T | CA364716539 | SLC17A5 | c.663C>A (p.Cys221Ter) n.429C>A c.612C>A (p.Cys204Ter) c.465C>A (p.Cys155Ter) c.432C>A (p.Cys144Ter) c.684C>A (p.Cys228Ter) c.614-1158C>A (n.614-1158C>A) c.660C>A (p.Cys220Ter) c.383-1158C>A (n.383-1158C>A) | gnomAD v4 |
| 6 | g.73636659C>A | CA364716540 | SLC17A5 | c.662G>T (p.Cys221Phe) n.428G>T c.611G>T (p.Cys204Phe) c.464G>T (p.Cys155Phe) c.431G>T (p.Cys144Phe) c.683G>T (p.Cys228Phe) c.614-1159G>T (n.614-1159G>T) c.659G>T (p.Cys220Phe) c.383-1159G>T (n.383-1159G>T) | |
| 6 | g.73636659C>G | CA364716542 | SLC17A5 | c.662G>C (p.Cys221Ser) n.428G>C c.611G>C (p.Cys204Ser) c.464G>C (p.Cys155Ser) c.431G>C (p.Cys144Ser) c.683G>C (p.Cys228Ser) c.614-1159G>C (n.614-1159G>C) c.659G>C (p.Cys220Ser) c.383-1159G>C (n.383-1159G>C) | gnomAD v4 |
| 6 | g.73636659C>T | CA364716544 | SLC17A5 | c.662G>A (p.Cys221Tyr) n.428G>A c.611G>A (p.Cys204Tyr) c.464G>A (p.Cys155Tyr) c.431G>A (p.Cys144Tyr) c.683G>A (p.Cys228Tyr) c.614-1159G>A (n.614-1159G>A) c.659G>A (p.Cys220Tyr) c.383-1159G>A (n.383-1159G>A) | |
| 6 | g.73636660A>C | CA364716545 | SLC17A5 | c.661T>G (p.Cys221Gly) n.427T>G c.610T>G (p.Cys204Gly) c.463T>G (p.Cys155Gly) c.430T>G (p.Cys144Gly) c.682T>G (p.Cys228Gly) c.614-1160T>G (n.614-1160T>G) c.658T>G (p.Cys220Gly) c.383-1160T>G (n.383-1160T>G) | |
| 6 | g.73636660A>G | CA364716547 | SLC17A5 | c.661T>C (p.Cys221Arg) n.427T>C c.610T>C (p.Cys204Arg) c.463T>C (p.Cys155Arg) c.430T>C (p.Cys144Arg) c.682T>C (p.Cys228Arg) c.614-1160T>C (n.614-1160T>C) c.658T>C (p.Cys220Arg) c.383-1160T>C (n.383-1160T>C) | |
| 6 | g.73636660A>T | CA364716549 | SLC17A5 | c.661T>A (p.Cys221Ser) n.427T>A c.610T>A (p.Cys204Ser) c.463T>A (p.Cys155Ser) c.430T>A (p.Cys144Ser) c.682T>A (p.Cys228Ser) c.614-1160T>A (n.614-1160T>A) c.658T>A (p.Cys220Ser) c.383-1160T>A (n.383-1160T>A) | |
| 6 | g.73636661A= | CA1638219095 | SLC17A5 | c.660T= (p.Ile220=) n.426T= c.609T= (p.Ile203=) c.462T= (p.Ile154=) c.429T= (p.Ile143=) c.681T= (p.Ile227=) c.614-1161T= (n.614-1161T=) c.657T= (p.Ile219=) c.383-1161T= (n.383-1161T=) | |
| 6 | g.73636661A>C | CA3890472 | SLC17A5 | c.660T>G (p.Ile220Met) n.426T>G c.609T>G (p.Ile203Met) c.462T>G (p.Ile154Met) c.429T>G (p.Ile143Met) c.681T>G (p.Ile227Met) c.614-1161T>G (n.614-1161T>G) c.657T>G (p.Ile219Met) c.383-1161T>G (n.383-1161T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636661A>G | CA450911958 | SLC17A5 | c.660T>C (p.Ile220=) n.426T>C c.609T>C (p.Ile203=) c.462T>C (p.Ile154=) c.429T>C (p.Ile143=) c.681T>C (p.Ile227=) c.614-1161T>C (n.614-1161T>C) c.657T>C (p.Ile219=) c.383-1161T>C (n.383-1161T>C) | |
| 6 | g.73636661A>T | CA450911959 | SLC17A5 | c.660T>A (p.Ile220=) n.426T>A c.609T>A (p.Ile203=) c.462T>A (p.Ile154=) c.429T>A (p.Ile143=) c.681T>A (p.Ile227=) c.614-1161T>A (n.614-1161T>A) c.657T>A (p.Ile219=) c.383-1161T>A (n.383-1161T>A) | |
| 6 | g.73636662A>C | CA364716552 | SLC17A5 | c.659T>G (p.Ile220Ser) n.425T>G c.608T>G (p.Ile203Ser) c.461T>G (p.Ile154Ser) c.428T>G (p.Ile143Ser) c.680T>G (p.Ile227Ser) c.614-1162T>G (n.614-1162T>G) c.656T>G (p.Ile219Ser) c.383-1162T>G (n.383-1162T>G) | |
| 6 | g.73636662A>G | CA364716553 | SLC17A5 | c.659T>C (p.Ile220Thr) n.425T>C c.608T>C (p.Ile203Thr) c.461T>C (p.Ile154Thr) c.428T>C (p.Ile143Thr) c.680T>C (p.Ile227Thr) c.614-1162T>C (n.614-1162T>C) c.656T>C (p.Ile219Thr) c.383-1162T>C (n.383-1162T>C) | |
| 6 | g.73636662A>T | CA364716554 | SLC17A5 | c.659T>A (p.Ile220Asn) n.425T>A c.608T>A (p.Ile203Asn) c.461T>A (p.Ile154Asn) c.428T>A (p.Ile143Asn) c.680T>A (p.Ile227Asn) c.614-1162T>A (n.614-1162T>A) c.656T>A (p.Ile219Asn) c.383-1162T>A (n.383-1162T>A) | |
| 6 | g.73636663T>A | CA364716558 | SLC17A5 | c.658A>T (p.Ile220Phe) n.424A>T c.607A>T (p.Ile203Phe) c.460A>T (p.Ile154Phe) c.427A>T (p.Ile143Phe) c.679A>T (p.Ile227Phe) c.614-1163A>T (n.614-1163A>T) c.655A>T (p.Ile219Phe) c.383-1163A>T (n.383-1163A>T) | |
| 6 | g.73636663T>C | CA364716560 | SLC17A5 | c.658A>G (p.Ile220Val) n.424A>G c.607A>G (p.Ile203Val) c.460A>G (p.Ile154Val) c.427A>G (p.Ile143Val) c.679A>G (p.Ile227Val) c.614-1163A>G (n.614-1163A>G) c.655A>G (p.Ile219Val) c.383-1163A>G (n.383-1163A>G) | |
| 6 | g.73636663T>G | CA364716556 | SLC17A5 | c.658A>C (p.Ile220Leu) n.424A>C c.607A>C (p.Ile203Leu) c.460A>C (p.Ile154Leu) c.427A>C (p.Ile143Leu) c.679A>C (p.Ile227Leu) c.614-1163A>C (n.614-1163A>C) c.655A>C (p.Ile219Leu) c.383-1163A>C (n.383-1163A>C) | |
| 6 | g.73636664T>A | CA450911961 | SLC17A5 | c.657A>T (p.Ile219=) n.423A>T c.606A>T (p.Ile202=) c.459A>T (p.Ile153=) c.426A>T (p.Ile142=) c.678A>T (p.Ile226=) c.614-1164A>T (n.614-1164A>T) c.654A>T (p.Ile218=) c.383-1164A>T (n.383-1164A>T) | |
| 6 | g.73636664T>C | CA364716561 | SLC17A5 | c.657A>G (p.Ile219Met) n.423A>G c.606A>G (p.Ile202Met) c.459A>G (p.Ile153Met) c.426A>G (p.Ile142Met) c.678A>G (p.Ile226Met) c.614-1164A>G (n.614-1164A>G) c.654A>G (p.Ile218Met) c.383-1164A>G (n.383-1164A>G) | |
| 6 | g.73636664T>G | CA450911960 | SLC17A5 | c.657A>C (p.Ile219=) n.423A>C c.606A>C (p.Ile202=) c.459A>C (p.Ile153=) c.426A>C (p.Ile142=) c.678A>C (p.Ile226=) c.614-1164A>C (n.614-1164A>C) c.654A>C (p.Ile218=) c.383-1164A>C (n.383-1164A>C) | gnomAD v4 |
| 6 | g.73636664_73636665insCAAAATGTAATA | CA2570902819 | SLC17A5 | c.656_657insTATTACATTTTG (p.Ile220IlefsTer4) n.422_423insTATTACATTTTG c.605_606insTATTACATTTTG (p.Ile203IlefsTer4) c.458_459insTATTACATTTTG (p.Ile154IlefsTer4) c.425_426insTATTACATTTTG (p.Ile143IlefsTer4) c.677_678insTATTACATTTTG (p.Ile227IlefsTer4) c.614-1165_614-1164insTATTACATTTTG (n.614-1165_614-1164insTATTACATTTTG) c.653_654insTATTACATTTTG (p.Ile219IlefsTer4) c.383-1165_383-1164insTATTACATTTTG (n.383-1165_383-1164insTATTACATTTTG) | |
| 6 | g.73636665A>C | CA364716563 | SLC17A5 | c.656T>G (p.Ile219Arg) n.422T>G c.605T>G (p.Ile202Arg) c.458T>G (p.Ile153Arg) c.425T>G (p.Ile142Arg) c.677T>G (p.Ile226Arg) c.614-1165T>G (n.614-1165T>G) c.653T>G (p.Ile218Arg) c.383-1165T>G (n.383-1165T>G) | |
| 6 | g.73636665A>G | CA364716564 | SLC17A5 | c.656T>C (p.Ile219Thr) n.422T>C c.605T>C (p.Ile202Thr) c.458T>C (p.Ile153Thr) c.425T>C (p.Ile142Thr) c.677T>C (p.Ile226Thr) c.614-1165T>C (n.614-1165T>C) c.653T>C (p.Ile218Thr) c.383-1165T>C (n.383-1165T>C) | |
| 6 | g.73636665A>T | CA364716565 | SLC17A5 | c.656T>A (p.Ile219Lys) n.422T>A c.605T>A (p.Ile202Lys) c.458T>A (p.Ile153Lys) c.425T>A (p.Ile142Lys) c.677T>A (p.Ile226Lys) c.614-1165T>A (n.614-1165T>A) c.653T>A (p.Ile218Lys) c.383-1165T>A (n.383-1165T>A) | |
| 6 | g.73636666T>A | CA364716567 | SLC17A5 | c.655A>T (p.Ile219Leu) n.421A>T c.604A>T (p.Ile202Leu) c.457A>T (p.Ile153Leu) c.424A>T (p.Ile142Leu) c.676A>T (p.Ile226Leu) c.614-1166A>T (n.614-1166A>T) c.652A>T (p.Ile218Leu) c.383-1166A>T (n.383-1166A>T) | |
| 6 | g.73636666T>C | CA364716569 | SLC17A5 | c.655A>G (p.Ile219Val) n.421A>G c.604A>G (p.Ile202Val) c.457A>G (p.Ile153Val) c.424A>G (p.Ile142Val) c.676A>G (p.Ile226Val) c.614-1166A>G (n.614-1166A>G) c.652A>G (p.Ile218Val) c.383-1166A>G (n.383-1166A>G) | |
| 6 | g.73636666T>G | CA364716570 | SLC17A5 | c.655A>C (p.Ile219Leu) n.421A>C c.604A>C (p.Ile202Leu) c.457A>C (p.Ile153Leu) c.424A>C (p.Ile142Leu) c.676A>C (p.Ile226Leu) c.614-1166A>C (n.614-1166A>C) c.652A>C (p.Ile218Leu) c.383-1166A>C (n.383-1166A>C) | |
| 6 | g.73636667T>A | CA450911962 | SLC17A5 | c.654A>T (p.Gly218=) n.420A>T c.603A>T (p.Gly201=) c.456A>T (p.Gly152=) c.423A>T (p.Gly141=) c.675A>T (p.Gly225=) c.614-1167A>T (n.614-1167A>T) c.651A>T (p.Gly217=) c.383-1167A>T (n.383-1167A>T) | |
| 6 | g.73636667T>C | CA450911963 | SLC17A5 | c.654A>G (p.Gly218=) n.420A>G c.603A>G (p.Gly201=) c.456A>G (p.Gly152=) c.423A>G (p.Gly141=) c.675A>G (p.Gly225=) c.614-1167A>G (n.614-1167A>G) c.651A>G (p.Gly217=) c.383-1167A>G (n.383-1167A>G) | |
| 6 | g.73636667T>G | CA450911964 | SLC17A5 | c.654A>C (p.Gly218=) n.420A>C c.603A>C (p.Gly201=) c.456A>C (p.Gly152=) c.423A>C (p.Gly141=) c.675A>C (p.Gly225=) c.614-1167A>C (n.614-1167A>C) c.651A>C (p.Gly217=) c.383-1167A>C (n.383-1167A>C) | |
| 6 | g.73636668C>A | CA364716572 | SLC17A5 | c.653G>T (p.Gly218Val) n.419G>T c.602G>T (p.Gly201Val) c.455G>T (p.Gly152Val) c.422G>T (p.Gly141Val) c.674G>T (p.Gly225Val) c.614-1168G>T (n.614-1168G>T) c.650G>T (p.Gly217Val) c.383-1168G>T (n.383-1168G>T) | COSMIC |
| 6 | g.73636668C= | CA1638219099 | SLC17A5 | c.653G= (p.Gly218=) n.419G= c.602G= (p.Gly201=) c.455G= (p.Gly152=) c.422G= (p.Gly141=) c.674G= (p.Gly225=) c.614-1168G= (n.614-1168G=) c.650G= (p.Gly217=) c.383-1168G= (n.383-1168G=) | |
| 6 | g.73636668C>G | CA364716574 | SLC17A5 | c.653G>C (p.Gly218Ala) n.419G>C c.602G>C (p.Gly201Ala) c.455G>C (p.Gly152Ala) c.422G>C (p.Gly141Ala) c.674G>C (p.Gly225Ala) c.614-1168G>C (n.614-1168G>C) c.650G>C (p.Gly217Ala) c.383-1168G>C (n.383-1168G>C) | gnomAD v4 |
| 6 | g.73636668C>T | CA3890473 | SLC17A5 | c.653G>A (p.Gly218Glu) n.419G>A c.602G>A (p.Gly201Glu) c.455G>A (p.Gly152Glu) c.422G>A (p.Gly141Glu) c.674G>A (p.Gly225Glu) c.614-1168G>A (n.614-1168G>A) c.650G>A (p.Gly217Glu) c.383-1168G>A (n.383-1168G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636669C>A | CA364716576 | SLC17A5 | c.652G>T (p.Gly218Ter) n.418G>T c.601G>T (p.Gly201Ter) c.454G>T (p.Gly152Ter) c.421G>T (p.Gly141Ter) c.673G>T (p.Gly225Ter) c.614-1169G>T (n.614-1169G>T) c.649G>T (p.Gly217Ter) c.383-1169G>T (n.383-1169G>T) | |
| 6 | g.73636669C>G | CA364716578 | SLC17A5 | c.652G>C (p.Gly218Arg) n.418G>C c.601G>C (p.Gly201Arg) c.454G>C (p.Gly152Arg) c.421G>C (p.Gly141Arg) c.673G>C (p.Gly225Arg) c.614-1169G>C (n.614-1169G>C) c.649G>C (p.Gly217Arg) c.383-1169G>C (n.383-1169G>C) | |
| 6 | g.73636669C>T | CA364716579 | SLC17A5 | c.652G>A (p.Gly218Arg) n.418G>A c.601G>A (p.Gly201Arg) c.454G>A (p.Gly152Arg) c.421G>A (p.Gly141Arg) c.673G>A (p.Gly225Arg) c.614-1169G>A (n.614-1169G>A) c.649G>A (p.Gly217Arg) c.383-1169G>A (n.383-1169G>A) | gnomAD v4 |
| 6 | g.73636670A= | CA1638219102 | SLC17A5 | c.651T= (p.Ser217=) n.417T= c.600T= (p.Ser200=) c.453T= (p.Ser151=) c.420T= (p.Ser140=) c.672T= (p.Ser224=) c.614-1170T= (n.614-1170T=) c.648T= (p.Ser216=) c.383-1170T= (n.383-1170T=) | |
| 6 | g.73636670A>C | CA450911965 | SLC17A5 | c.651T>G (p.Ser217=) n.417T>G c.600T>G (p.Ser200=) c.453T>G (p.Ser151=) c.420T>G (p.Ser140=) c.672T>G (p.Ser224=) c.614-1170T>G (n.614-1170T>G) c.648T>G (p.Ser216=) c.383-1170T>G (n.383-1170T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73636670A>G | CA450911966 | SLC17A5 | c.651T>C (p.Ser217=) n.417T>C c.600T>C (p.Ser200=) c.453T>C (p.Ser151=) c.420T>C (p.Ser140=) c.672T>C (p.Ser224=) c.614-1170T>C (n.614-1170T>C) c.648T>C (p.Ser216=) c.383-1170T>C (n.383-1170T>C) | gnomAD v4 |
| 6 | g.73636670A>T | CA3890474 | SLC17A5 | c.651T>A (p.Ser217=) n.417T>A c.600T>A (p.Ser200=) c.453T>A (p.Ser151=) c.420T>A (p.Ser140=) c.672T>A (p.Ser224=) c.614-1170T>A (n.614-1170T>A) c.648T>A (p.Ser216=) c.383-1170T>A (n.383-1170T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636671G>A | CA364716581 | SLC17A5 | c.650C>T (p.Ser217Phe) n.416C>T c.599C>T (p.Ser200Phe) c.452C>T (p.Ser151Phe) c.419C>T (p.Ser140Phe) c.671C>T (p.Ser224Phe) c.614-1171C>T (n.614-1171C>T) c.647C>T (p.Ser216Phe) c.383-1171C>T (n.383-1171C>T) | |
| 6 | g.73636671G>C | CA364716584 | SLC17A5 | c.650C>G (p.Ser217Cys) n.416C>G c.599C>G (p.Ser200Cys) c.452C>G (p.Ser151Cys) c.419C>G (p.Ser140Cys) c.671C>G (p.Ser224Cys) c.614-1171C>G (n.614-1171C>G) c.647C>G (p.Ser216Cys) c.383-1171C>G (n.383-1171C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636671G= | CA1638219105 | SLC17A5 | c.650C= (p.Ser217=) n.416C= c.599C= (p.Ser200=) c.452C= (p.Ser151=) c.419C= (p.Ser140=) c.671C= (p.Ser224=) c.614-1171C= (n.614-1171C=) c.647C= (p.Ser216=) c.383-1171C= (n.383-1171C=) | |
| 6 | g.73636671G>T | CA364716582 | SLC17A5 | c.650C>A (p.Ser217Tyr) n.416C>A c.599C>A (p.Ser200Tyr) c.452C>A (p.Ser151Tyr) c.419C>A (p.Ser140Tyr) c.671C>A (p.Ser224Tyr) c.614-1171C>A (n.614-1171C>A) c.647C>A (p.Ser216Tyr) c.383-1171C>A (n.383-1171C>A) | |
| 6 | g.73636672A>C | CA364716586 | SLC17A5 | c.649T>G (p.Ser217Ala) n.415T>G c.598T>G (p.Ser200Ala) c.451T>G (p.Ser151Ala) c.418T>G (p.Ser140Ala) c.670T>G (p.Ser224Ala) c.614-1172T>G (n.614-1172T>G) c.646T>G (p.Ser216Ala) c.383-1172T>G (n.383-1172T>G) | |
| 6 | g.73636672A>G | CA364716589 | SLC17A5 | c.649T>C (p.Ser217Pro) n.415T>C c.598T>C (p.Ser200Pro) c.451T>C (p.Ser151Pro) c.418T>C (p.Ser140Pro) c.670T>C (p.Ser224Pro) c.614-1172T>C (n.614-1172T>C) c.646T>C (p.Ser216Pro) c.383-1172T>C (n.383-1172T>C) | |
| 6 | g.73636672A>T | CA364716587 | SLC17A5 | c.649T>A (p.Ser217Thr) n.415T>A c.598T>A (p.Ser200Thr) c.451T>A (p.Ser151Thr) c.418T>A (p.Ser140Thr) c.670T>A (p.Ser224Thr) c.614-1172T>A (n.614-1172T>A) c.646T>A (p.Ser216Thr) c.383-1172T>A (n.383-1172T>A) | |
| 6 | g.73636673A>C | CA450911967 | SLC17A5 | c.648T>G (p.Leu216=) n.414T>G c.597T>G (p.Leu199=) c.450T>G (p.Leu150=) c.417T>G (p.Leu139=) c.669T>G (p.Leu223=) c.614-1173T>G (n.614-1173T>G) c.645T>G (p.Leu215=) c.383-1173T>G (n.383-1173T>G) | |
| 6 | g.73636673A>G | CA450911968 | SLC17A5 | c.648T>C (p.Leu216=) n.414T>C c.597T>C (p.Leu199=) c.450T>C (p.Leu150=) c.417T>C (p.Leu139=) c.669T>C (p.Leu223=) c.614-1173T>C (n.614-1173T>C) c.645T>C (p.Leu215=) c.383-1173T>C (n.383-1173T>C) | |
| 6 | g.73636673A>T | CA450911969 | SLC17A5 | c.648T>A (p.Leu216=) n.414T>A c.597T>A (p.Leu199=) c.450T>A (p.Leu150=) c.417T>A (p.Leu139=) c.669T>A (p.Leu223=) c.614-1173T>A (n.614-1173T>A) c.645T>A (p.Leu215=) c.383-1173T>A (n.383-1173T>A) | |
| 6 | g.73636674A>C | CA364716591 | SLC17A5 | c.647T>G (p.Leu216Arg) n.413T>G c.596T>G (p.Leu199Arg) c.449T>G (p.Leu150Arg) c.416T>G (p.Leu139Arg) c.668T>G (p.Leu223Arg) c.614-1174T>G (n.614-1174T>G) c.644T>G (p.Leu215Arg) c.383-1174T>G (n.383-1174T>G) | |
| 6 | g.73636674A>G | CA364716594 | SLC17A5 | c.647T>C (p.Leu216Pro) n.413T>C c.596T>C (p.Leu199Pro) c.449T>C (p.Leu150Pro) c.416T>C (p.Leu139Pro) c.668T>C (p.Leu223Pro) c.614-1174T>C (n.614-1174T>C) c.644T>C (p.Leu215Pro) c.383-1174T>C (n.383-1174T>C) | |
| 6 | g.73636674A>T | CA364716593 | SLC17A5 | c.647T>A (p.Leu216His) n.413T>A c.596T>A (p.Leu199His) c.449T>A (p.Leu150His) c.416T>A (p.Leu139His) c.668T>A (p.Leu223His) c.614-1174T>A (n.614-1174T>A) c.644T>A (p.Leu215His) c.383-1174T>A (n.383-1174T>A) | |
| 6 | g.73636675G>A | CA364716595 | SLC17A5 | c.646C>T (p.Leu216Phe) n.412C>T c.595C>T (p.Leu199Phe) c.448C>T (p.Leu150Phe) c.415C>T (p.Leu139Phe) c.667C>T (p.Leu223Phe) c.614-1175C>T (n.614-1175C>T) c.643C>T (p.Leu215Phe) c.383-1175C>T (n.383-1175C>T) | gnomAD v4 |
| 6 | g.73636675G>C | CA3890475 | SLC17A5 | c.646C>G (p.Leu216Val) n.412C>G c.595C>G (p.Leu199Val) c.448C>G (p.Leu150Val) c.415C>G (p.Leu139Val) c.667C>G (p.Leu223Val) c.614-1175C>G (n.614-1175C>G) c.643C>G (p.Leu215Val) c.383-1175C>G (n.383-1175C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.73636675G= | CA1638219107 | SLC17A5 | c.646C= (p.Leu216=) n.412C= c.595C= (p.Leu199=) c.448C= (p.Leu150=) c.415C= (p.Leu139=) c.667C= (p.Leu223=) c.614-1175C= (n.614-1175C=) c.643C= (p.Leu215=) c.383-1175C= (n.383-1175C=) | |
| 6 | g.73636675G>T | CA364716596 | SLC17A5 | c.646C>A (p.Leu216Ile) n.412C>A c.595C>A (p.Leu199Ile) c.448C>A (p.Leu150Ile) c.415C>A (p.Leu139Ile) c.667C>A (p.Leu223Ile) c.614-1175C>A (n.614-1175C>A) c.643C>A (p.Leu215Ile) c.383-1175C>A (n.383-1175C>A) | |
| 6 | g.73636676A= | CA1638219111 | SLC17A5 | c.645T= (p.Pro215=) n.411T= c.594T= (p.Pro198=) c.447T= (p.Pro149=) c.414T= (p.Pro138=) c.666T= (p.Pro222=) c.614-1176T= (n.614-1176T=) c.642T= (p.Pro214=) c.383-1176T= (n.383-1176T=) | |
| 6 | g.73636676A>C | CA450911970 | SLC17A5 | c.645T>G (p.Pro215=) n.411T>G c.594T>G (p.Pro198=) c.447T>G (p.Pro149=) c.414T>G (p.Pro138=) c.666T>G (p.Pro222=) c.614-1176T>G (n.614-1176T>G) c.642T>G (p.Pro214=) c.383-1176T>G (n.383-1176T>G) | |
| 6 | g.73636676A>G | CA450911972 | SLC17A5 | c.645T>C (p.Pro215=) n.411T>C c.594T>C (p.Pro198=) c.447T>C (p.Pro149=) c.414T>C (p.Pro138=) c.666T>C (p.Pro222=) c.614-1176T>C (n.614-1176T>C) c.642T>C (p.Pro214=) c.383-1176T>C (n.383-1176T>C) | |
| 6 | g.73636676A>T | CA450911971 | SLC17A5 | c.645T>A (p.Pro215=) n.411T>A c.594T>A (p.Pro198=) c.447T>A (p.Pro149=) c.414T>A (p.Pro138=) c.666T>A (p.Pro222=) c.614-1176T>A (n.614-1176T>A) c.642T>A (p.Pro214=) c.383-1176T>A (n.383-1176T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636677G>A | CA364716600 | SLC17A5 | c.644C>T (p.Pro215Leu) n.410C>T c.593C>T (p.Pro198Leu) c.446C>T (p.Pro149Leu) c.413C>T (p.Pro138Leu) c.665C>T (p.Pro222Leu) c.614-1177C>T (n.614-1177C>T) c.641C>T (p.Pro214Leu) c.383-1177C>T (n.383-1177C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636677G>C | CA364716601 | SLC17A5 | c.644C>G (p.Pro215Arg) n.410C>G c.593C>G (p.Pro198Arg) c.446C>G (p.Pro149Arg) c.413C>G (p.Pro138Arg) c.665C>G (p.Pro222Arg) c.614-1177C>G (n.614-1177C>G) c.641C>G (p.Pro214Arg) c.383-1177C>G (n.383-1177C>G) | |
| 6 | g.73636677G= | CA1638219113 | SLC17A5 | c.644C= (p.Pro215=) n.410C= c.593C= (p.Pro198=) c.446C= (p.Pro149=) c.413C= (p.Pro138=) c.665C= (p.Pro222=) c.614-1177C= (n.614-1177C=) c.641C= (p.Pro214=) c.383-1177C= (n.383-1177C=) | |
| 6 | g.73636677G>T | CA364716602 | SLC17A5 | c.644C>A (p.Pro215His) n.410C>A c.593C>A (p.Pro198His) c.446C>A (p.Pro149His) c.413C>A (p.Pro138His) c.665C>A (p.Pro222His) c.614-1177C>A (n.614-1177C>A) c.641C>A (p.Pro214His) c.383-1177C>A (n.383-1177C>A) | |
| 6 | g.73636678G>A | CA364716603 | SLC17A5 | c.643C>T (p.Pro215Ser) n.409C>T c.592C>T (p.Pro198Ser) c.445C>T (p.Pro149Ser) c.412C>T (p.Pro138Ser) c.664C>T (p.Pro222Ser) c.614-1178C>T (n.614-1178C>T) c.640C>T (p.Pro214Ser) c.383-1178C>T (n.383-1178C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636678G>C | CA364716605 | SLC17A5 | c.643C>G (p.Pro215Ala) n.409C>G c.592C>G (p.Pro198Ala) c.445C>G (p.Pro149Ala) c.412C>G (p.Pro138Ala) c.664C>G (p.Pro222Ala) c.614-1178C>G (n.614-1178C>G) c.640C>G (p.Pro214Ala) c.383-1178C>G (n.383-1178C>G) | |
| 6 | g.73636678G= | CA1638219115 | SLC17A5 | c.643C= (p.Pro215=) n.409C= c.592C= (p.Pro198=) c.445C= (p.Pro149=) c.412C= (p.Pro138=) c.664C= (p.Pro222=) c.614-1178C= (n.614-1178C=) c.640C= (p.Pro214=) c.383-1178C= (n.383-1178C=) | |
| 6 | g.73636678G>T | CA364716607 | SLC17A5 | c.643C>A (p.Pro215Thr) n.409C>A c.592C>A (p.Pro198Thr) c.445C>A (p.Pro149Thr) c.412C>A (p.Pro138Thr) c.664C>A (p.Pro222Thr) c.614-1178C>A (n.614-1178C>A) c.640C>A (p.Pro214Thr) c.383-1178C>A (n.383-1178C>A) | |
| 6 | g.73636679A>C | CA450911973 | SLC17A5 | c.642T>G (p.Leu214=) n.408T>G c.591T>G (p.Leu197=) c.444T>G (p.Leu148=) c.411T>G (p.Leu137=) c.663T>G (p.Leu221=) c.614-1179T>G (n.614-1179T>G) c.639T>G (p.Leu213=) c.383-1179T>G (n.383-1179T>G) | |
| 6 | g.73636679A>G | CA450911974 | SLC17A5 | c.642T>C (p.Leu214=) n.408T>C c.591T>C (p.Leu197=) c.444T>C (p.Leu148=) c.411T>C (p.Leu137=) c.663T>C (p.Leu221=) c.614-1179T>C (n.614-1179T>C) c.639T>C (p.Leu213=) c.383-1179T>C (n.383-1179T>C) | ClinVar dbSNP |
| 6 | g.73636679A>T | CA450911975 | SLC17A5 | c.642T>A (p.Leu214=) n.408T>A c.591T>A (p.Leu197=) c.444T>A (p.Leu148=) c.411T>A (p.Leu137=) c.663T>A (p.Leu221=) c.614-1179T>A (n.614-1179T>A) c.639T>A (p.Leu213=) c.383-1179T>A (n.383-1179T>A) | |
| 6 | g.73636680A>C | CA364716608 | SLC17A5 | c.641T>G (p.Leu214Arg) n.407T>G c.590T>G (p.Leu197Arg) c.443T>G (p.Leu148Arg) c.410T>G (p.Leu137Arg) c.662T>G (p.Leu221Arg) c.614-1180T>G (n.614-1180T>G) c.638T>G (p.Leu213Arg) c.383-1180T>G (n.383-1180T>G) | |
| 6 | g.73636680A>G | CA364716610 | SLC17A5 | c.641T>C (p.Leu214Pro) n.407T>C c.590T>C (p.Leu197Pro) c.443T>C (p.Leu148Pro) c.410T>C (p.Leu137Pro) c.662T>C (p.Leu221Pro) c.614-1180T>C (n.614-1180T>C) c.638T>C (p.Leu213Pro) c.383-1180T>C (n.383-1180T>C) | |
| 6 | g.73636680A>T | CA364716611 | SLC17A5 | c.641T>A (p.Leu214His) n.407T>A c.590T>A (p.Leu197His) c.443T>A (p.Leu148His) c.410T>A (p.Leu137His) c.662T>A (p.Leu221His) c.614-1180T>A (n.614-1180T>A) c.638T>A (p.Leu213His) c.383-1180T>A (n.383-1180T>A) | |
| 6 | g.73636681G>A | CA364716613 | SLC17A5 | c.640C>T (p.Leu214Phe) n.406C>T c.589C>T (p.Leu197Phe) c.442C>T (p.Leu148Phe) c.409C>T (p.Leu137Phe) c.661C>T (p.Leu221Phe) c.614-1181C>T (n.614-1181C>T) c.637C>T (p.Leu213Phe) c.383-1181C>T (n.383-1181C>T) | gnomAD v4 |
| 6 | g.73636681G>C | CA364716614 | SLC17A5 | c.640C>G (p.Leu214Val) n.406C>G c.589C>G (p.Leu197Val) c.442C>G (p.Leu148Val) c.409C>G (p.Leu137Val) c.661C>G (p.Leu221Val) c.614-1181C>G (n.614-1181C>G) c.637C>G (p.Leu213Val) c.383-1181C>G (n.383-1181C>G) | |
| 6 | g.73636681G= | CA1638219120 | SLC17A5 | c.640C= (p.Leu214=) n.406C= c.589C= (p.Leu197=) c.442C= (p.Leu148=) c.409C= (p.Leu137=) c.661C= (p.Leu221=) c.614-1181C= (n.614-1181C=) c.637C= (p.Leu213=) c.383-1181C= (n.383-1181C=) | |
| 6 | g.73636681G>T | CA364716616 | SLC17A5 | c.640C>A (p.Leu214Ile) n.406C>A c.589C>A (p.Leu197Ile) c.442C>A (p.Leu148Ile) c.409C>A (p.Leu137Ile) c.661C>A (p.Leu221Ile) c.614-1181C>A (n.614-1181C>A) c.637C>A (p.Leu213Ile) c.383-1181C>A (n.383-1181C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.73636682A= | CA1638219124 | SLC17A5 | c.639T= (p.Ser213=) n.405T= c.588T= (p.Ser196=) c.441T= (p.Ser147=) c.408T= (p.Ser136=) c.660T= (p.Ser220=) c.614-1182T= (n.614-1182T=) c.636T= (p.Ser212=) c.383-1182T= (n.383-1182T=) | |
| 6 | g.73636682A>C | CA450911976 | SLC17A5 | c.639T>G (p.Ser213=) n.405T>G c.588T>G (p.Ser196=) c.441T>G (p.Ser147=) c.408T>G (p.Ser136=) c.660T>G (p.Ser220=) c.614-1182T>G (n.614-1182T>G) c.636T>G (p.Ser212=) c.383-1182T>G (n.383-1182T>G) | |
| 6 | g.73636682A>G | CA450911977 | SLC17A5 | c.639T>C (p.Ser213=) n.405T>C c.588T>C (p.Ser196=) c.441T>C (p.Ser147=) c.408T>C (p.Ser136=) c.660T>C (p.Ser220=) c.614-1182T>C (n.614-1182T>C) c.636T>C (p.Ser212=) c.383-1182T>C (n.383-1182T>C) | dbSNP |
| 6 | g.73636682A>T | CA450911978 | SLC17A5 | c.639T>A (p.Ser213=) n.405T>A c.588T>A (p.Ser196=) c.441T>A (p.Ser147=) c.408T>A (p.Ser136=) c.660T>A (p.Ser220=) c.614-1182T>A (n.614-1182T>A) c.636T>A (p.Ser212=) c.383-1182T>A (n.383-1182T>A) | |
| 6 | g.73636683G>A | CA364716621 | SLC17A5 | c.638C>T (p.Ser213Phe) n.404C>T c.587C>T (p.Ser196Phe) c.440C>T (p.Ser147Phe) c.407C>T (p.Ser136Phe) c.659C>T (p.Ser220Phe) c.614-1183C>T (n.614-1183C>T) c.635C>T (p.Ser212Phe) c.383-1183C>T (n.383-1183C>T) | gnomAD v4 |
| 6 | g.73636683G>C | CA364716618 | SLC17A5 | c.638C>G (p.Ser213Cys) n.404C>G c.587C>G (p.Ser196Cys) c.440C>G (p.Ser147Cys) c.407C>G (p.Ser136Cys) c.659C>G (p.Ser220Cys) c.614-1183C>G (n.614-1183C>G) c.635C>G (p.Ser212Cys) c.383-1183C>G (n.383-1183C>G) | |
| 6 | g.73636683G= | CA1638219127 | SLC17A5 | c.638C= (p.Ser213=) n.404C= c.587C= (p.Ser196=) c.440C= (p.Ser147=) c.407C= (p.Ser136=) c.659C= (p.Ser220=) c.614-1183C= (n.614-1183C=) c.635C= (p.Ser212=) c.383-1183C= (n.383-1183C=) | |
| 6 | g.73636683G>T | CA364716619 | SLC17A5 | c.638C>A (p.Ser213Tyr) n.404C>A c.587C>A (p.Ser196Tyr) c.440C>A (p.Ser147Tyr) c.407C>A (p.Ser136Tyr) c.659C>A (p.Ser220Tyr) c.614-1183C>A (n.614-1183C>A) c.635C>A (p.Ser212Tyr) c.383-1183C>A (n.383-1183C>A) | dbSNP gnomAD v4 COSMIC |
| 6 | g.73636684A>C | CA364716622 | SLC17A5 | c.637T>G (p.Ser213Ala) n.403T>G c.586T>G (p.Ser196Ala) c.439T>G (p.Ser147Ala) c.406T>G (p.Ser136Ala) c.658T>G (p.Ser220Ala) c.614-1184T>G (n.614-1184T>G) c.634T>G (p.Ser212Ala) c.383-1184T>G (n.383-1184T>G) | |
| 6 | g.73636684A>G | CA364716623 | SLC17A5 | c.637T>C (p.Ser213Pro) n.403T>C c.586T>C (p.Ser196Pro) c.439T>C (p.Ser147Pro) c.406T>C (p.Ser136Pro) c.658T>C (p.Ser220Pro) c.614-1184T>C (n.614-1184T>C) c.634T>C (p.Ser212Pro) c.383-1184T>C (n.383-1184T>C) | |
| 6 | g.73636684A>T | CA364716625 | SLC17A5 | c.637T>A (p.Ser213Thr) n.403T>A c.586T>A (p.Ser196Thr) c.439T>A (p.Ser147Thr) c.406T>A (p.Ser136Thr) c.658T>A (p.Ser220Thr) c.614-1184T>A (n.614-1184T>A) c.634T>A (p.Ser212Thr) c.383-1184T>A (n.383-1184T>A) | |
| 6 | g.73636685A>C | CA364716626 | SLC17A5 | c.636T>G (p.Ile212Met) n.402T>G c.585T>G (p.Ile195Met) c.438T>G (p.Ile146Met) c.405T>G (p.Ile135Met) c.657T>G (p.Ile219Met) c.614-1185T>G (n.614-1185T>G) c.633T>G (p.Ile211Met) c.383-1185T>G (n.383-1185T>G) | |
| 6 | g.73636685A>G | CA450911979 | SLC17A5 | c.636T>C (p.Ile212=) n.402T>C c.585T>C (p.Ile195=) c.438T>C (p.Ile146=) c.405T>C (p.Ile135=) c.657T>C (p.Ile219=) c.614-1185T>C (n.614-1185T>C) c.633T>C (p.Ile211=) c.383-1185T>C (n.383-1185T>C) | |
| 6 | g.73636685A>T | CA450911980 | SLC17A5 | c.636T>A (p.Ile212=) n.402T>A c.585T>A (p.Ile195=) c.438T>A (p.Ile146=) c.405T>A (p.Ile135=) c.657T>A (p.Ile219=) c.614-1185T>A (n.614-1185T>A) c.633T>A (p.Ile211=) c.383-1185T>A (n.383-1185T>A) | |
| 6 | g.73636686A>C | CA364716628 | SLC17A5 | c.635T>G (p.Ile212Ser) n.401T>G c.584T>G (p.Ile195Ser) c.437T>G (p.Ile146Ser) c.404T>G (p.Ile135Ser) c.656T>G (p.Ile219Ser) c.614-1186T>G (n.614-1186T>G) c.632T>G (p.Ile211Ser) c.383-1186T>G (n.383-1186T>G) | |
| 6 | g.73636686A>G | CA364716629 | SLC17A5 | c.635T>C (p.Ile212Thr) n.401T>C c.584T>C (p.Ile195Thr) c.437T>C (p.Ile146Thr) c.404T>C (p.Ile135Thr) c.656T>C (p.Ile219Thr) c.614-1186T>C (n.614-1186T>C) c.632T>C (p.Ile211Thr) c.383-1186T>C (n.383-1186T>C) | |
| 6 | g.73636686A>T | CA364716631 | SLC17A5 | c.635T>A (p.Ile212Asn) n.401T>A c.584T>A (p.Ile195Asn) c.437T>A (p.Ile146Asn) c.404T>A (p.Ile135Asn) c.656T>A (p.Ile219Asn) c.614-1186T>A (n.614-1186T>A) c.632T>A (p.Ile211Asn) c.383-1186T>A (n.383-1186T>A) | |
| 6 | g.73636687T>A | CA364716633 | SLC17A5 | c.634A>T (p.Ile212Phe) n.400A>T c.583A>T (p.Ile195Phe) c.436A>T (p.Ile146Phe) c.403A>T (p.Ile135Phe) c.655A>T (p.Ile219Phe) c.614-1187A>T (n.614-1187A>T) c.631A>T (p.Ile211Phe) c.383-1187A>T (n.383-1187A>T) | |
| 6 | g.73636687T>C | CA364716634 | SLC17A5 | c.634A>G (p.Ile212Val) n.400A>G c.583A>G (p.Ile195Val) c.436A>G (p.Ile146Val) c.403A>G (p.Ile135Val) c.655A>G (p.Ile219Val) c.614-1187A>G (n.614-1187A>G) c.631A>G (p.Ile211Val) c.383-1187A>G (n.383-1187A>G) | |
| 6 | g.73636687T>G | CA364716636 | SLC17A5 | c.634A>C (p.Ile212Leu) n.400A>C c.583A>C (p.Ile195Leu) c.436A>C (p.Ile146Leu) c.403A>C (p.Ile135Leu) c.655A>C (p.Ile219Leu) c.614-1187A>C (n.614-1187A>C) c.631A>C (p.Ile211Leu) c.383-1187A>C (n.383-1187A>C) | |
| 6 | g.73636688T>A | CA450911981 | SLC17A5 | c.633A>T (p.Val211=) n.399A>T c.582A>T (p.Val194=) c.435A>T (p.Val145=) c.402A>T (p.Val134=) c.654A>T (p.Val218=) c.614-1188A>T (n.614-1188A>T) c.630A>T (p.Val210=) c.383-1188A>T (n.383-1188A>T) | gnomAD v4 |
| 6 | g.73636688T>C | CA450911982 | SLC17A5 | c.633A>G (p.Val211=) n.399A>G c.582A>G (p.Val194=) c.435A>G (p.Val145=) c.402A>G (p.Val134=) c.654A>G (p.Val218=) c.614-1188A>G (n.614-1188A>G) c.630A>G (p.Val210=) c.383-1188A>G (n.383-1188A>G) | |
| 6 | g.73636688T>G | CA450911983 | SLC17A5 | c.633A>C (p.Val211=) n.399A>C c.582A>C (p.Val194=) c.435A>C (p.Val145=) c.402A>C (p.Val134=) c.654A>C (p.Val218=) c.614-1188A>C (n.614-1188A>C) c.630A>C (p.Val210=) c.383-1188A>C (n.383-1188A>C) | |
| 6 | g.73636689A>C | CA364716641 | SLC17A5 | c.632T>G (p.Val211Gly) n.398T>G c.581T>G (p.Val194Gly) c.434T>G (p.Val145Gly) c.401T>G (p.Val134Gly) c.653T>G (p.Val218Gly) c.614-1189T>G (n.614-1189T>G) c.629T>G (p.Val210Gly) c.383-1189T>G (n.383-1189T>G) | |
| 6 | g.73636689A>G | CA364716640 | SLC17A5 | c.632T>C (p.Val211Ala) n.398T>C c.581T>C (p.Val194Ala) c.434T>C (p.Val145Ala) c.401T>C (p.Val134Ala) c.653T>C (p.Val218Ala) c.614-1189T>C (n.614-1189T>C) c.629T>C (p.Val210Ala) c.383-1189T>C (n.383-1189T>C) | |
| 6 | g.73636689A>T | CA364716638 | SLC17A5 | c.632T>A (p.Val211Glu) n.398T>A c.581T>A (p.Val194Glu) c.434T>A (p.Val145Glu) c.401T>A (p.Val134Glu) c.653T>A (p.Val218Glu) c.614-1189T>A (n.614-1189T>A) c.629T>A (p.Val210Glu) c.383-1189T>A (n.383-1189T>A) | |
| 6 | g.73636690C>A | CA364716643 | SLC17A5 | c.631G>T (p.Val211Leu) n.397G>T c.580G>T (p.Val194Leu) c.433G>T (p.Val145Leu) c.400G>T (p.Val134Leu) c.652G>T (p.Val218Leu) c.614-1190G>T (n.614-1190G>T) c.628G>T (p.Val210Leu) c.383-1190G>T (n.383-1190G>T) | |
| 6 | g.73636690C= | CA1638219134 | SLC17A5 | c.631G= (p.Val211=) n.397G= c.580G= (p.Val194=) c.433G= (p.Val145=) c.400G= (p.Val134=) c.652G= (p.Val218=) c.614-1190G= (n.614-1190G=) c.628G= (p.Val210=) c.383-1190G= (n.383-1190G=) | |
| 6 | g.73636690C>G | CA364716644 | SLC17A5 | c.631G>C (p.Val211Leu) n.397G>C c.580G>C (p.Val194Leu) c.433G>C (p.Val145Leu) c.400G>C (p.Val134Leu) c.652G>C (p.Val218Leu) c.614-1190G>C (n.614-1190G>C) c.628G>C (p.Val210Leu) c.383-1190G>C (n.383-1190G>C) | |
| 6 | g.73636690C>T | CA364716646 | SLC17A5 | c.631G>A (p.Val211Ile) n.397G>A c.580G>A (p.Val194Ile) c.433G>A (p.Val145Ile) c.400G>A (p.Val134Ile) c.652G>A (p.Val218Ile) c.614-1190G>A (n.614-1190G>A) c.628G>A (p.Val210Ile) c.383-1190G>A (n.383-1190G>A) | dbSNP |
| 6 | g.73636691T>A | CA450911984 | SLC17A5 | c.630A>T (p.Thr210=) n.396A>T c.579A>T (p.Thr193=) c.432A>T (p.Thr144=) c.399A>T (p.Thr133=) c.651A>T (p.Thr217=) c.614-1191A>T (n.614-1191A>T) c.627A>T (p.Thr209=) c.383-1191A>T (n.383-1191A>T) | |
| 6 | g.73636691T>C | CA450911985 | SLC17A5 | c.630A>G (p.Thr210=) n.396A>G c.579A>G (p.Thr193=) c.432A>G (p.Thr144=) c.399A>G (p.Thr133=) c.651A>G (p.Thr217=) c.614-1191A>G (n.614-1191A>G) c.627A>G (p.Thr209=) c.383-1191A>G (n.383-1191A>G) | |
| 6 | g.73636691T>G | CA450911986 | SLC17A5 | c.630A>C (p.Thr210=) n.396A>C c.579A>C (p.Thr193=) c.432A>C (p.Thr144=) c.399A>C (p.Thr133=) c.651A>C (p.Thr217=) c.614-1191A>C (n.614-1191A>C) c.627A>C (p.Thr209=) c.383-1191A>C (n.383-1191A>C) | |
| 6 | g.73636692G>A | CA364716648 | SLC17A5 | c.629C>T (p.Thr210Ile) n.395C>T c.578C>T (p.Thr193Ile) c.431C>T (p.Thr144Ile) c.398C>T (p.Thr133Ile) c.650C>T (p.Thr217Ile) c.614-1192C>T (n.614-1192C>T) c.626C>T (p.Thr209Ile) c.383-1192C>T (n.383-1192C>T) | |
| 6 | g.73636692G>C | CA364716649 | SLC17A5 | c.629C>G (p.Thr210Arg) n.395C>G c.578C>G (p.Thr193Arg) c.431C>G (p.Thr144Arg) c.398C>G (p.Thr133Arg) c.650C>G (p.Thr217Arg) c.614-1192C>G (n.614-1192C>G) c.626C>G (p.Thr209Arg) c.383-1192C>G (n.383-1192C>G) | |
| 6 | g.73636692G>T | CA364716650 | SLC17A5 | c.629C>A (p.Thr210Lys) n.395C>A c.578C>A (p.Thr193Lys) c.431C>A (p.Thr144Lys) c.398C>A (p.Thr133Lys) c.650C>A (p.Thr217Lys) c.614-1192C>A (n.614-1192C>A) c.626C>A (p.Thr209Lys) c.383-1192C>A (n.383-1192C>A) | |
| 6 | g.73636693T>A | CA364716652 | SLC17A5 | c.628A>T (p.Thr210Ser) n.394A>T c.577A>T (p.Thr193Ser) c.430A>T (p.Thr144Ser) c.397A>T (p.Thr133Ser) c.649A>T (p.Thr217Ser) c.614-1193A>T (n.614-1193A>T) c.625A>T (p.Thr209Ser) c.383-1193A>T (n.383-1193A>T) | |
| 6 | g.73636693T>C | CA140972786 | SLC17A5 | c.628A>G (p.Thr210Ala) n.394A>G c.577A>G (p.Thr193Ala) c.430A>G (p.Thr144Ala) c.397A>G (p.Thr133Ala) c.649A>G (p.Thr217Ala) c.614-1193A>G (n.614-1193A>G) c.625A>G (p.Thr209Ala) c.383-1193A>G (n.383-1193A>G) | dbSNP gnomAD v4 |
| 6 | g.73636693T>G | CA364716654 | SLC17A5 | c.628A>C (p.Thr210Pro) n.394A>C c.577A>C (p.Thr193Pro) c.430A>C (p.Thr144Pro) c.397A>C (p.Thr133Pro) c.649A>C (p.Thr217Pro) c.614-1193A>C (n.614-1193A>C) c.625A>C (p.Thr209Pro) c.383-1193A>C (n.383-1193A>C) | |
| 6 | g.73636693T= | CA1638219139 | SLC17A5 | c.628A= (p.Thr210=) n.394A= c.577A= (p.Thr193=) c.430A= (p.Thr144=) c.397A= (p.Thr133=) c.649A= (p.Thr217=) c.614-1193A= (n.614-1193A=) c.625A= (p.Thr209=) c.383-1193A= (n.383-1193A=) | |
| 6 | g.73636694C>A | CA450911987 | SLC17A5 | c.627G>T (p.Gly209=) n.393G>T c.576G>T (p.Gly192=) c.429G>T (p.Gly143=) c.396G>T (p.Gly132=) c.648G>T (p.Gly216=) c.614-1194G>T (n.614-1194G>T) c.624G>T (p.Gly208=) c.383-1194G>T (n.383-1194G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636694C= | CA1638219143 | SLC17A5 | c.627G= (p.Gly209=) n.393G= c.576G= (p.Gly192=) c.429G= (p.Gly143=) c.396G= (p.Gly132=) c.648G= (p.Gly216=) c.614-1194G= (n.614-1194G=) c.624G= (p.Gly208=) c.383-1194G= (n.383-1194G=) | |
| 6 | g.73636694C>G | CA450911988 | SLC17A5 | c.627G>C (p.Gly209=) n.393G>C c.576G>C (p.Gly192=) c.429G>C (p.Gly143=) c.396G>C (p.Gly132=) c.648G>C (p.Gly216=) c.614-1194G>C (n.614-1194G>C) c.624G>C (p.Gly208=) c.383-1194G>C (n.383-1194G>C) | |
| 6 | g.73636694C>T | CA450911989 | SLC17A5 | c.627G>A (p.Gly209=) n.393G>A c.576G>A (p.Gly192=) c.429G>A (p.Gly143=) c.396G>A (p.Gly132=) c.648G>A (p.Gly216=) c.614-1194G>A (n.614-1194G>A) c.624G>A (p.Gly208=) c.383-1194G>A (n.383-1194G>A) | ClinVar gnomAD v4 |
| 6 | g.73636695C>A | CA364716655 | SLC17A5 | c.626G>T (p.Gly209Val) n.392G>T c.575G>T (p.Gly192Val) c.428G>T (p.Gly143Val) c.395G>T (p.Gly132Val) c.647G>T (p.Gly216Val) c.614-1195G>T (n.614-1195G>T) c.623G>T (p.Gly208Val) c.383-1195G>T (n.383-1195G>T) | |
| 6 | g.73636695C>G | CA364716656 | SLC17A5 | c.626G>C (p.Gly209Ala) n.392G>C c.575G>C (p.Gly192Ala) c.428G>C (p.Gly143Ala) c.395G>C (p.Gly132Ala) c.647G>C (p.Gly216Ala) c.614-1195G>C (n.614-1195G>C) c.623G>C (p.Gly208Ala) c.383-1195G>C (n.383-1195G>C) | |
| 6 | g.73636695C>T | CA364716658 | SLC17A5 | c.626G>A (p.Gly209Glu) n.392G>A c.575G>A (p.Gly192Glu) c.428G>A (p.Gly143Glu) c.395G>A (p.Gly132Glu) c.647G>A (p.Gly216Glu) c.614-1195G>A (n.614-1195G>A) c.623G>A (p.Gly208Glu) c.383-1195G>A (n.383-1195G>A) | |
| 6 | g.73636696C>A | CA364716661 | SLC17A5 | c.625G>T (p.Gly209Trp) n.391G>T c.574G>T (p.Gly192Trp) c.427G>T (p.Gly143Trp) c.394G>T (p.Gly132Trp) c.646G>T (p.Gly216Trp) c.614-1196G>T (n.614-1196G>T) c.622G>T (p.Gly208Trp) c.383-1196G>T (n.383-1196G>T) | |
| 6 | g.73636696C>G | CA364716659 | SLC17A5 | c.625G>C (p.Gly209Arg) n.391G>C c.574G>C (p.Gly192Arg) c.427G>C (p.Gly143Arg) c.394G>C (p.Gly132Arg) c.646G>C (p.Gly216Arg) c.614-1196G>C (n.614-1196G>C) c.622G>C (p.Gly208Arg) c.383-1196G>C (n.383-1196G>C) | |
| 6 | g.73636696C>T | CA364716660 | SLC17A5 | c.625G>A (p.Gly209Arg) n.391G>A c.574G>A (p.Gly192Arg) c.427G>A (p.Gly143Arg) c.394G>A (p.Gly132Arg) c.646G>A (p.Gly216Arg) c.614-1196G>A (n.614-1196G>A) c.622G>A (p.Gly208Arg) c.383-1196G>A (n.383-1196G>A) | |
| 6 | g.73636697A>C | CA450911990 | SLC17A5 | c.624T>G (p.Leu208=) n.390T>G c.573T>G (p.Leu191=) c.426T>G (p.Leu142=) c.393T>G (p.Leu131=) c.645T>G (p.Leu215=) c.614-1197T>G (n.614-1197T>G) c.621T>G (p.Leu207=) c.383-1197T>G (n.383-1197T>G) | gnomAD v4 |
| 6 | g.73636697A>G | CA450911991 | SLC17A5 | c.624T>C (p.Leu208=) n.390T>C c.573T>C (p.Leu191=) c.426T>C (p.Leu142=) c.393T>C (p.Leu131=) c.645T>C (p.Leu215=) c.614-1197T>C (n.614-1197T>C) c.621T>C (p.Leu207=) c.383-1197T>C (n.383-1197T>C) | |
| 6 | g.73636697A>T | CA450911992 | SLC17A5 | c.624T>A (p.Leu208=) n.390T>A c.573T>A (p.Leu191=) c.426T>A (p.Leu142=) c.393T>A (p.Leu131=) c.645T>A (p.Leu215=) c.614-1197T>A (n.614-1197T>A) c.621T>A (p.Leu207=) c.383-1197T>A (n.383-1197T>A) | |
| 6 | g.73636698A>C | CA364716662 | SLC17A5 | c.623T>G (p.Leu208Arg) n.389T>G c.572T>G (p.Leu191Arg) c.425T>G (p.Leu142Arg) c.392T>G (p.Leu131Arg) c.644T>G (p.Leu215Arg) c.614-1198T>G (n.614-1198T>G) c.620T>G (p.Leu207Arg) c.383-1198T>G (n.383-1198T>G) | |
| 6 | g.73636698A>G | CA364716663 | SLC17A5 | c.623T>C (p.Leu208Pro) n.389T>C c.572T>C (p.Leu191Pro) c.425T>C (p.Leu142Pro) c.392T>C (p.Leu131Pro) c.644T>C (p.Leu215Pro) c.614-1198T>C (n.614-1198T>C) c.620T>C (p.Leu207Pro) c.383-1198T>C (n.383-1198T>C) | |
| 6 | g.73636698A>T | CA364716664 | SLC17A5 | c.623T>A (p.Leu208His) n.389T>A c.572T>A (p.Leu191His) c.425T>A (p.Leu142His) c.392T>A (p.Leu131His) c.644T>A (p.Leu215His) c.614-1198T>A (n.614-1198T>A) c.620T>A (p.Leu207His) c.383-1198T>A (n.383-1198T>A) | |
| 6 | g.73636699G>A | CA364716665 | SLC17A5 | c.622C>T (p.Leu208Phe) n.388C>T c.571C>T (p.Leu191Phe) c.424C>T (p.Leu142Phe) c.391C>T (p.Leu131Phe) c.643C>T (p.Leu215Phe) c.614-1199C>T (n.614-1199C>T) c.619C>T (p.Leu207Phe) c.383-1199C>T (n.383-1199C>T) | gnomAD v4 |
| 6 | g.73636699G>C | CA364716666 | SLC17A5 | c.622C>G (p.Leu208Val) n.388C>G c.571C>G (p.Leu191Val) c.424C>G (p.Leu142Val) c.391C>G (p.Leu131Val) c.643C>G (p.Leu215Val) c.614-1199C>G (n.614-1199C>G) c.619C>G (p.Leu207Val) c.383-1199C>G (n.383-1199C>G) | |
| 6 | g.73636699G>T | CA364716667 | SLC17A5 | c.622C>A (p.Leu208Ile) n.388C>A c.571C>A (p.Leu191Ile) c.424C>A (p.Leu142Ile) c.391C>A (p.Leu131Ile) c.643C>A (p.Leu215Ile) c.614-1199C>A (n.614-1199C>A) c.619C>A (p.Leu207Ile) c.383-1199C>A (n.383-1199C>A) | gnomAD v4 |
| 6 | g.73636700C>A | CA364716668 | SLC17A5 | c.621G>T (p.Gln207His) n.387G>T c.570G>T (p.Gln190His) c.423G>T (p.Gln141His) c.390G>T (p.Gln130His) c.642G>T (p.Gln214His) c.614-1200G>T (n.614-1200G>T) c.618G>T (p.Gln206His) c.383-1200G>T (n.383-1200G>T) | gnomAD v4 COSMIC |
| 6 | g.73636700C= | CA1638219145 | SLC17A5 | c.621G= (p.Gln207=) n.387G= c.570G= (p.Gln190=) c.423G= (p.Gln141=) c.390G= (p.Gln130=) c.642G= (p.Gln214=) c.614-1200G= (n.614-1200G=) c.618G= (p.Gln206=) c.383-1200G= (n.383-1200G=) | |
| 6 | g.73636700C>G | CA364716669 | SLC17A5 | c.621G>C (p.Gln207His) n.387G>C c.570G>C (p.Gln190His) c.423G>C (p.Gln141His) c.390G>C (p.Gln130His) c.642G>C (p.Gln214His) c.614-1200G>C (n.614-1200G>C) c.618G>C (p.Gln206His) c.383-1200G>C (n.383-1200G>C) | |
| 6 | g.73636700C>T | CA450911994 | SLC17A5 | c.621G>A (p.Gln207=) n.387G>A c.570G>A (p.Gln190=) c.423G>A (p.Gln141=) c.390G>A (p.Gln130=) c.642G>A (p.Gln214=) c.614-1200G>A (n.614-1200G>A) c.618G>A (p.Gln206=) c.383-1200G>A (n.383-1200G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636701T>A | CA364716670 | SLC17A5 | c.620A>T (p.Gln207Leu) n.386A>T c.569A>T (p.Gln190Leu) c.422A>T (p.Gln141Leu) c.389A>T (p.Gln130Leu) c.641A>T (p.Gln214Leu) c.614-1201A>T (n.614-1201A>T) c.617A>T (p.Gln206Leu) c.383-1201A>T (n.383-1201A>T) | |
| 6 | g.73636701T>C | CA364716671 | SLC17A5 | c.620A>G (p.Gln207Arg) n.386A>G c.569A>G (p.Gln190Arg) c.422A>G (p.Gln141Arg) c.389A>G (p.Gln130Arg) c.641A>G (p.Gln214Arg) c.614-1201A>G (n.614-1201A>G) c.617A>G (p.Gln206Arg) c.383-1201A>G (n.383-1201A>G) | |
| 6 | g.73636701T>G | CA364716672 | SLC17A5 | c.620A>C (p.Gln207Pro) n.386A>C c.569A>C (p.Gln190Pro) c.422A>C (p.Gln141Pro) c.389A>C (p.Gln130Pro) c.641A>C (p.Gln214Pro) c.614-1201A>C (n.614-1201A>C) c.617A>C (p.Gln206Pro) c.383-1201A>C (n.383-1201A>C) | |
| 6 | g.73636702G>A | CA364716675 | SLC17A5 | c.619C>T (p.Gln207Ter) n.385C>T c.568C>T (p.Gln190Ter) c.421C>T (p.Gln141Ter) c.388C>T (p.Gln130Ter) c.640C>T (p.Gln214Ter) c.614-1202C>T (n.614-1202C>T) c.616C>T (p.Gln206Ter) c.383-1202C>T (n.383-1202C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.73636702G>C | CA364716674 | SLC17A5 | c.619C>G (p.Gln207Glu) n.385C>G c.568C>G (p.Gln190Glu) c.421C>G (p.Gln141Glu) c.388C>G (p.Gln130Glu) c.640C>G (p.Gln214Glu) c.614-1202C>G (n.614-1202C>G) c.616C>G (p.Gln206Glu) c.383-1202C>G (n.383-1202C>G) | |
| 6 | g.73636702G= | CA1638219150 | SLC17A5 | c.619C= (p.Gln207=) n.385C= c.568C= (p.Gln190=) c.421C= (p.Gln141=) c.388C= (p.Gln130=) c.640C= (p.Gln214=) c.614-1202C= (n.614-1202C=) c.616C= (p.Gln206=) c.383-1202C= (n.383-1202C=) | |
| 6 | g.73636702G>T | CA364716673 | SLC17A5 | c.619C>A (p.Gln207Lys) n.385C>A c.568C>A (p.Gln190Lys) c.421C>A (p.Gln141Lys) c.388C>A (p.Gln130Lys) c.640C>A (p.Gln214Lys) c.614-1202C>A (n.614-1202C>A) c.616C>A (p.Gln206Lys) c.383-1202C>A (n.383-1202C>A) | |
| 6 | g.73636703T>A | CA450911995 | SLC17A5 | c.618A>T (p.Ala206=) n.384A>T c.567A>T (p.Ala189=) c.420A>T (p.Ala140=) c.387A>T (p.Ala129=) c.639A>T (p.Ala213=) c.614-1203A>T (n.614-1203A>T) c.615A>T (p.Ala205=) c.383-1203A>T (n.383-1203A>T) | |
| 6 | g.73636703T>C | CA450911996 | SLC17A5 | c.618A>G (p.Ala206=) n.384A>G c.567A>G (p.Ala189=) c.420A>G (p.Ala140=) c.387A>G (p.Ala129=) c.639A>G (p.Ala213=) c.614-1203A>G (n.614-1203A>G) c.615A>G (p.Ala205=) c.383-1203A>G (n.383-1203A>G) | gnomAD v4 |
| 6 | g.73636703T>G | CA450911997 | SLC17A5 | c.618A>C (p.Ala206=) n.384A>C c.567A>C (p.Ala189=) c.420A>C (p.Ala140=) c.387A>C (p.Ala129=) c.639A>C (p.Ala213=) c.614-1203A>C (n.614-1203A>C) c.615A>C (p.Ala205=) c.383-1203A>C (n.383-1203A>C) | |
| 6 | g.73636704G>A | CA364716676 | SLC17A5 | c.617C>T (p.Ala206Val) n.383C>T c.566C>T (p.Ala189Val) c.419C>T (p.Ala140Val) c.386C>T (p.Ala129Val) c.638C>T (p.Ala213Val) c.614-1204C>T (n.614-1204C>T) c.614C>T (p.Ala205Val) c.383-1204C>T (n.383-1204C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636704G>C | CA364716678 | SLC17A5 | c.617C>G (p.Ala206Gly) n.383C>G c.566C>G (p.Ala189Gly) c.419C>G (p.Ala140Gly) c.386C>G (p.Ala129Gly) c.638C>G (p.Ala213Gly) c.614-1204C>G (n.614-1204C>G) c.614C>G (p.Ala205Gly) c.383-1204C>G (n.383-1204C>G) | |
| 6 | g.73636704G= | CA1638219152 | SLC17A5 | c.617C= (p.Ala206=) n.383C= c.566C= (p.Ala189=) c.419C= (p.Ala140=) c.386C= (p.Ala129=) c.638C= (p.Ala213=) c.614-1204C= (n.614-1204C=) c.614C= (p.Ala205=) c.383-1204C= (n.383-1204C=) | |
| 6 | g.73636704G>T | CA364716677 | SLC17A5 | c.617C>A (p.Ala206Glu) n.383C>A c.566C>A (p.Ala189Glu) c.419C>A (p.Ala140Glu) c.386C>A (p.Ala129Glu) c.638C>A (p.Ala213Glu) c.614-1204C>A (n.614-1204C>A) c.614C>A (p.Ala205Glu) c.383-1204C>A (n.383-1204C>A) | gnomAD v4 |
| 6 | g.73636705C>A | CA364716679 | SLC17A5 | c.616G>T (p.Ala206Ser) n.382G>T c.565G>T (p.Ala189Ser) c.418G>T (p.Ala140Ser) c.385G>T (p.Ala129Ser) c.637G>T (p.Ala213Ser) c.614-1205G>T (n.614-1205G>T) c.614-1G>T (n.614-1G>T) c.383-1205G>T (n.383-1205G>T) | |
| 6 | g.73636705C>G | CA364716680 | SLC17A5 | c.616G>C (p.Ala206Pro) n.382G>C c.565G>C (p.Ala189Pro) c.418G>C (p.Ala140Pro) c.385G>C (p.Ala129Pro) c.637G>C (p.Ala213Pro) c.614-1205G>C (n.614-1205G>C) c.614-1G>C (n.614-1G>C) c.383-1205G>C (n.383-1205G>C) | |
| 6 | g.73636705C>T | CA364716681 | SLC17A5 | c.616G>A (p.Ala206Thr) n.382G>A c.565G>A (p.Ala189Thr) c.418G>A (p.Ala140Thr) c.385G>A (p.Ala129Thr) c.637G>A (p.Ala213Thr) c.614-1205G>A (n.614-1205G>A) c.614-1G>A (n.614-1G>A) c.383-1205G>A (n.383-1205G>A) | |
| 6 | g.73636706T>A | CA450911999 | SLC17A5 | c.615A>T (p.Gly205=) n.381A>T c.564A>T (p.Gly188=) c.417A>T (p.Gly139=) c.384A>T (p.Gly128=) c.636A>T (p.Gly212=) c.614-1206A>T (n.614-1206A>T) c.614-2A>T (n.614-2A>T) c.383-1206A>T (n.383-1206A>T) | |
| 6 | g.73636706T>C | CA450912000 | SLC17A5 | c.615A>G (p.Gly205=) n.381A>G c.564A>G (p.Gly188=) c.417A>G (p.Gly139=) c.384A>G (p.Gly128=) c.636A>G (p.Gly212=) c.614-1206A>G (n.614-1206A>G) c.614-2A>G (n.614-2A>G) c.383-1206A>G (n.383-1206A>G) | |
| 6 | g.73636706T>G | CA450911998 | SLC17A5 | c.615A>C (p.Gly205=) n.381A>C c.564A>C (p.Gly188=) c.417A>C (p.Gly139=) c.384A>C (p.Gly128=) c.636A>C (p.Gly212=) c.614-1206A>C (n.614-1206A>C) c.614-2A>C (n.614-2A>C) c.383-1206A>C (n.383-1206A>C) | |
| 6 | g.73636707C>A | CA364716682 | SLC17A5 | c.614G>T (p.Gly205Val) n.380G>T c.563G>T (p.Gly188Val) c.416G>T (p.Gly139Val) c.383G>T (p.Gly128Val) c.635G>T (p.Gly212Val) c.614-1207G>T (n.614-1207G>T) c.614-3G>T (n.614-3G>T) c.383-1207G>T (n.383-1207G>T) | |
| 6 | g.73636707C>G | CA364716683 | SLC17A5 | c.614G>C (p.Gly205Ala) n.380G>C c.563G>C (p.Gly188Ala) c.416G>C (p.Gly139Ala) c.383G>C (p.Gly128Ala) c.635G>C (p.Gly212Ala) c.614-1207G>C (n.614-1207G>C) c.614-3G>C (n.614-3G>C) c.383-1207G>C (n.383-1207G>C) | |
| 6 | g.73636707C>T | CA364716684 | SLC17A5 | c.614G>A (p.Gly205Glu) n.380G>A c.563G>A (p.Gly188Glu) c.416G>A (p.Gly139Glu) c.383G>A (p.Gly128Glu) c.635G>A (p.Gly212Glu) c.614-1207G>A (n.614-1207G>A) c.614-3G>A (n.614-3G>A) c.383-1207G>A (n.383-1207G>A) | COSMIC |
| 6 | g.73636708C>A | CA364716685 | SLC17A5 | c.614-1G>T (n.614-1G>T) n.380-1G>T c.563-1G>T (n.563-1G>T) c.416-1G>T (n.416-1G>T) c.383-1G>T (n.383-1G>T) c.635-1G>T (n.635-1G>T) c.614-1208G>T (n.614-1208G>T) c.614-4G>T (n.614-4G>T) c.383-1208G>T (n.383-1208G>T) | |
| 6 | g.73636708C= | CA1638219157 | SLC17A5 | c.614-1G= (n.614-1G=) n.380-1G= c.563-1G= (n.563-1G=) c.416-1G= (n.416-1G=) c.383-1G= (n.383-1G=) c.635-1G= (n.635-1G=) c.614-1208G= (n.614-1208G=) c.614-4G= (n.614-4G=) c.383-1208G= (n.383-1208G=) | |
| 6 | g.73636708C>G | CA364716686 | SLC17A5 | c.614-1G>C (n.614-1G>C) n.380-1G>C c.563-1G>C (n.563-1G>C) c.416-1G>C (n.416-1G>C) c.383-1G>C (n.383-1G>C) c.635-1G>C (n.635-1G>C) c.614-1208G>C (n.614-1208G>C) c.614-4G>C (n.614-4G>C) c.383-1208G>C (n.383-1208G>C) | |
| 6 | g.73636708C>T | CA364716687 | SLC17A5 | c.614-1G>A (n.614-1G>A) n.380-1G>A c.563-1G>A (n.563-1G>A) c.416-1G>A (n.416-1G>A) c.383-1G>A (n.383-1G>A) c.635-1G>A (n.635-1G>A) c.614-1208G>A (n.614-1208G>A) c.614-4G>A (n.614-4G>A) c.383-1208G>A (n.383-1208G>A) | ClinVar dbSNP |
| 6 | g.73636709T>A | CA364716688 | SLC17A5 | c.614-2A>T (n.614-2A>T) n.380-2A>T c.563-2A>T (n.563-2A>T) c.416-2A>T (n.416-2A>T) c.383-2A>T (n.383-2A>T) c.635-2A>T (n.635-2A>T) c.614-1209A>T (n.614-1209A>T) c.614-5A>T (n.614-5A>T) c.383-1209A>T (n.383-1209A>T) | |
| 6 | g.73636709T>C | CA364716689 | SLC17A5 | c.614-2A>G (n.614-2A>G) n.380-2A>G c.563-2A>G (n.563-2A>G) c.416-2A>G (n.416-2A>G) c.383-2A>G (n.383-2A>G) c.635-2A>G (n.635-2A>G) c.614-1209A>G (n.614-1209A>G) c.614-5A>G (n.614-5A>G) c.383-1209A>G (n.383-1209A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73636709T>G | CA364716690 | SLC17A5 | c.614-2A>C (n.614-2A>C) n.380-2A>C c.563-2A>C (n.563-2A>C) c.416-2A>C (n.416-2A>C) c.383-2A>C (n.383-2A>C) c.635-2A>C (n.635-2A>C) c.614-1209A>C (n.614-1209A>C) c.614-5A>C (n.614-5A>C) c.383-1209A>C (n.383-1209A>C) | |
| 6 | g.73636709T= | CA1638219169 | SLC17A5 | c.614-2A= (n.614-2A=) n.380-2A= c.563-2A= (n.563-2A=) c.416-2A= (n.416-2A=) c.383-2A= (n.383-2A=) c.635-2A= (n.635-2A=) c.614-1209A= (n.614-1209A=) c.614-5A= (n.614-5A=) c.383-1209A= (n.383-1209A=) | |
| 6 | g.73636710A= | CA1638219171 | SLC17A5 | c.614-3T= (n.614-3T=) n.380-3T= c.563-3T= (n.563-3T=) c.416-3T= (n.416-3T=) c.383-3T= (n.383-3T=) c.635-3T= (n.635-3T=) c.614-1210T= (n.614-1210T=) c.614-6T= (n.614-6T=) c.383-1210T= (n.383-1210T=) | |
| 6 | g.73636710A>G | CA567686241 | SLC17A5 | c.614-3T>C (n.614-3T>C) n.380-3T>C c.563-3T>C (n.563-3T>C) c.416-3T>C (n.416-3T>C) c.383-3T>C (n.383-3T>C) c.635-3T>C (n.635-3T>C) c.614-1210T>C (n.614-1210T>C) c.614-6T>C (n.614-6T>C) c.383-1210T>C (n.383-1210T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636710A>T | CA2679404568 | SLC17A5 | c.614-3T>A (n.614-3T>A) n.380-3T>A c.563-3T>A (n.563-3T>A) c.416-3T>A (n.416-3T>A) c.383-3T>A (n.383-3T>A) c.635-3T>A (n.635-3T>A) c.614-1210T>A (n.614-1210T>A) c.614-6T>A (n.614-6T>A) c.383-1210T>A (n.383-1210T>A) | gnomAD v4 |
| 6 | g.73636711G>A | CA2679404570 | SLC17A5 | c.614-4C>T (n.614-4C>T) n.380-4C>T c.563-4C>T (n.563-4C>T) c.416-4C>T (n.416-4C>T) c.383-4C>T (n.383-4C>T) c.635-4C>T (n.635-4C>T) c.614-1211C>T (n.614-1211C>T) c.614-7C>T (n.614-7C>T) c.383-1211C>T (n.383-1211C>T) | gnomAD v4 |
| 6 | g.73636711G>T | CA2679404569 | SLC17A5 | c.614-4C>A (n.614-4C>A) n.380-4C>A c.563-4C>A (n.563-4C>A) c.416-4C>A (n.416-4C>A) c.383-4C>A (n.383-4C>A) c.635-4C>A (n.635-4C>A) c.614-1211C>A (n.614-1211C>A) c.614-7C>A (n.614-7C>A) c.383-1211C>A (n.383-1211C>A) | gnomAD v4 |
| 6 | g.73636716_73636718del | CA2697553547 | SLC17A5 | c.614-7_614-5del (n.614-7_614-5del) n.380-7_380-5del c.563-7_563-5del (n.563-7_563-5del) c.416-7_416-5del (n.416-7_416-5del) c.383-7_383-5del (n.383-7_383-5del) c.635-7_635-5del (n.635-7_635-5del) c.614-1214_614-1212del (n.614-1214_614-1212del) c.614-10_614-8del (n.614-10_614-8del) c.383-1214_383-1212del (n.383-1214_383-1212del) | ClinVar |
| 6 | g.73636713A= | CA1638219174 | SLC17A5 | c.614-6T= (n.614-6T=) n.380-6T= c.563-6T= (n.563-6T=) c.416-6T= (n.416-6T=) c.383-6T= (n.383-6T=) c.635-6T= (n.635-6T=) c.614-1213T= (n.614-1213T=) c.614-9T= (n.614-9T=) c.383-1213T= (n.383-1213T=) | |
| 6 | g.73636713A>G | CA3890476 | SLC17A5 | c.614-6T>C (n.614-6T>C) n.380-6T>C c.563-6T>C (n.563-6T>C) c.416-6T>C (n.416-6T>C) c.383-6T>C (n.383-6T>C) c.635-6T>C (n.635-6T>C) c.614-1213T>C (n.614-1213T>C) c.614-9T>C (n.614-9T>C) c.383-1213T>C (n.383-1213T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636714C= | CA1638219177 | SLC17A5 | c.614-7G= (n.614-7G=) n.380-7G= c.563-7G= (n.563-7G=) c.416-7G= (n.416-7G=) c.383-7G= (n.383-7G=) c.635-7G= (n.635-7G=) c.614-1214G= (n.614-1214G=) c.614-10G= (n.614-10G=) c.383-1214G= (n.383-1214G=) | |
| 6 | g.73636714C>T | CA567686242 | SLC17A5 | c.614-7G>A (n.614-7G>A) n.380-7G>A c.563-7G>A (n.563-7G>A) c.416-7G>A (n.416-7G>A) c.383-7G>A (n.383-7G>A) c.635-7G>A (n.635-7G>A) c.614-1214G>A (n.614-1214G>A) c.614-10G>A (n.614-10G>A) c.383-1214G>A (n.383-1214G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636715A>G | CA2578669760 | SLC17A5 | c.614-8T>C (n.614-8T>C) n.380-8T>C c.563-8T>C (n.563-8T>C) c.416-8T>C (n.416-8T>C) c.383-8T>C (n.383-8T>C) c.635-8T>C (n.635-8T>C) c.614-1215T>C (n.614-1215T>C) c.614-11T>C (n.614-11T>C) c.383-1215T>C (n.383-1215T>C) | ClinVar gnomAD v4 |
| 6 | g.73636716A>G | CA2573141133 | SLC17A5 | c.614-9T>C (n.614-9T>C) n.380-9T>C c.563-9T>C (n.563-9T>C) c.416-9T>C (n.416-9T>C) c.383-9T>C (n.383-9T>C) c.635-9T>C (n.635-9T>C) c.614-1216T>C (n.614-1216T>C) c.614-12T>C (n.614-12T>C) c.383-1216T>C (n.383-1216T>C) | ClinVar dbSNP |
| 6 | g.73636717C= | CA1638219179 | SLC17A5 | c.614-10G= (n.614-10G=) n.380-10G= c.563-10G= (n.563-10G=) c.416-10G= (n.416-10G=) c.383-10G= (n.383-10G=) c.635-10G= (n.635-10G=) c.614-1217G= (n.614-1217G=) c.614-13G= (n.614-13G=) c.383-1217G= (n.383-1217G=) | |
| 6 | g.73636717C>G | CA2578669761 | SLC17A5 | c.614-10G>C (n.614-10G>C) n.380-10G>C c.563-10G>C (n.563-10G>C) c.416-10G>C (n.416-10G>C) c.383-10G>C (n.383-10G>C) c.635-10G>C (n.635-10G>C) c.614-1217G>C (n.614-1217G>C) c.614-13G>C (n.614-13G>C) c.383-1217G>C (n.383-1217G>C) | |
| 6 | g.73636717C>T | CA3890477 | SLC17A5 | c.614-10G>A (n.614-10G>A) n.380-10G>A c.563-10G>A (n.563-10G>A) c.416-10G>A (n.416-10G>A) c.383-10G>A (n.383-10G>A) c.635-10G>A (n.635-10G>A) c.614-1217G>A (n.614-1217G>A) c.614-13G>A (n.614-13G>A) c.383-1217G>A (n.383-1217G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636719C= | CA1638219183 | SLC17A5 | c.614-12G= (n.614-12G=) n.380-12G= c.563-12G= (n.563-12G=) c.416-12G= (n.416-12G=) c.383-12G= (n.383-12G=) c.635-12G= (n.635-12G=) c.614-1219G= (n.614-1219G=) c.614-15G= (n.614-15G=) c.383-1219G= (n.383-1219G=) | |
| 6 | g.73636719C>G | CA567686243 | SLC17A5 | c.614-12G>C (n.614-12G>C) n.380-12G>C c.563-12G>C (n.563-12G>C) c.416-12G>C (n.416-12G>C) c.383-12G>C (n.383-12G>C) c.635-12G>C (n.635-12G>C) c.614-1219G>C (n.614-1219G>C) c.614-15G>C (n.614-15G>C) c.383-1219G>C (n.383-1219G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636720A= | CA1638219185 | SLC17A5 | c.614-13T= (n.614-13T=) n.380-13T= c.563-13T= (n.563-13T=) c.416-13T= (n.416-13T=) c.383-13T= (n.383-13T=) c.635-13T= (n.635-13T=) c.614-1220T= (n.614-1220T=) c.614-16T= (n.614-16T=) c.383-1220T= (n.383-1220T=) | |
| 6 | g.73636720A>G | CA3890478 | SLC17A5 | c.614-13T>C (n.614-13T>C) n.380-13T>C c.563-13T>C (n.563-13T>C) c.416-13T>C (n.416-13T>C) c.383-13T>C (n.383-13T>C) c.635-13T>C (n.635-13T>C) c.614-1220T>C (n.614-1220T>C) c.614-16T>C (n.614-16T>C) c.383-1220T>C (n.383-1220T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636720A>T | CA2679404572 | SLC17A5 | c.614-13T>A (n.614-13T>A) n.380-13T>A c.563-13T>A (n.563-13T>A) c.416-13T>A (n.416-13T>A) c.383-13T>A (n.383-13T>A) c.635-13T>A (n.635-13T>A) c.614-1220T>A (n.614-1220T>A) c.614-16T>A (n.614-16T>A) c.383-1220T>A (n.383-1220T>A) | gnomAD v4 |
| 6 | g.73636722_73636729dup | CA2679404571 | SLC17A5 | c.614-20_614-13dup (n.614-20_614-13dup) n.380-20_380-13dup c.563-20_563-13dup (n.563-20_563-13dup) c.416-20_416-13dup (n.416-20_416-13dup) c.383-20_383-13dup (n.383-20_383-13dup) c.635-20_635-13dup (n.635-20_635-13dup) c.614-1227_614-1220dup (n.614-1227_614-1220dup) c.614-23_614-16dup (n.614-23_614-16dup) c.383-1227_383-1220dup (n.383-1227_383-1220dup) | gnomAD v4 |
| 6 | g.73636721dup | CA567686244 | SLC17A5 | c.614-14dup (n.614-14dup) n.380-14dup c.563-14dup (n.563-14dup) c.416-14dup (n.416-14dup) c.383-14dup (n.383-14dup) c.635-14dup (n.635-14dup) c.614-1221dup (n.614-1221dup) c.614-17dup (n.614-17dup) c.383-1221dup (n.383-1221dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636721_73636723delinsTAA | CA1638219188 | SLC17A5 | c.614-16_614-14delinsTTA (n.614-16_614-14delinsTTA) n.380-16_380-14delinsTTA c.563-16_563-14delinsTTA (n.563-16_563-14delinsTTA) c.416-16_416-14delinsTTA (n.416-16_416-14delinsTTA) c.383-16_383-14delinsTTA (n.383-16_383-14delinsTTA) c.635-16_635-14delinsTTA (n.635-16_635-14delinsTTA) c.614-1223_614-1221delinsTTA (n.614-1223_614-1221delinsTTA) c.614-19_614-17delinsTTA (n.614-19_614-17delinsTTA) c.383-1223_383-1221delinsTTA (n.383-1223_383-1221delinsTTA) | |
| 6 | g.73636722A= | CA1638219191 | SLC17A5 | c.614-15T= (n.614-15T=) n.380-15T= c.563-15T= (n.563-15T=) c.416-15T= (n.416-15T=) c.383-15T= (n.383-15T=) c.635-15T= (n.635-15T=) c.614-1222T= (n.614-1222T=) c.614-18T= (n.614-18T=) c.383-1222T= (n.383-1222T=) | |
| 6 | g.73636722A>G | CA3890480 | SLC17A5 | c.614-15T>C (n.614-15T>C) n.380-15T>C c.563-15T>C (n.563-15T>C) c.416-15T>C (n.416-15T>C) c.383-15T>C (n.383-15T>C) c.635-15T>C (n.635-15T>C) c.614-1222T>C (n.614-1222T>C) c.614-18T>C (n.614-18T>C) c.383-1222T>C (n.383-1222T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636722_73636723del | CA3890479 | SLC17A5 | c.614-16_614-15del (n.614-16_614-15del) n.380-16_380-15del c.563-16_563-15del (n.563-16_563-15del) c.416-16_416-15del (n.416-16_416-15del) c.383-16_383-15del (n.383-16_383-15del) c.635-16_635-15del (n.635-16_635-15del) c.614-1223_614-1222del (n.614-1223_614-1222del) c.614-19_614-18del (n.614-19_614-18del) c.383-1223_383-1222del (n.383-1223_383-1222del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636723A= | CA1638219196 | SLC17A5 | c.614-16T= (n.614-16T=) n.380-16T= c.563-16T= (n.563-16T=) c.416-16T= (n.416-16T=) c.383-16T= (n.383-16T=) c.635-16T= (n.635-16T=) c.614-1223T= (n.614-1223T=) c.614-19T= (n.614-19T=) c.383-1223T= (n.383-1223T=) | |
| 6 | g.73636723A>G | CA567686245 | SLC17A5 | c.614-16T>C (n.614-16T>C) n.380-16T>C c.563-16T>C (n.563-16T>C) c.416-16T>C (n.416-16T>C) c.383-16T>C (n.383-16T>C) c.635-16T>C (n.635-16T>C) c.614-1223T>C (n.614-1223T>C) c.614-19T>C (n.614-19T>C) c.383-1223T>C (n.383-1223T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636724G>A | CA827972934 | SLC17A5 | c.614-17C>T (n.614-17C>T) n.380-17C>T c.563-17C>T (n.563-17C>T) c.416-17C>T (n.416-17C>T) c.383-17C>T (n.383-17C>T) c.635-17C>T (n.635-17C>T) c.614-1224C>T (n.614-1224C>T) c.614-20C>T (n.614-20C>T) c.383-1224C>T (n.383-1224C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73636724G= | CA1638219199 | SLC17A5 | c.614-17C= (n.614-17C=) n.380-17C= c.563-17C= (n.563-17C=) c.416-17C= (n.416-17C=) c.383-17C= (n.383-17C=) c.635-17C= (n.635-17C=) c.614-1224C= (n.614-1224C=) c.614-20C= (n.614-20C=) c.383-1224C= (n.383-1224C=) | |
| 6 | g.73636724G>T | CA2679404573 | SLC17A5 | c.614-17C>A (n.614-17C>A) n.380-17C>A c.563-17C>A (n.563-17C>A) c.416-17C>A (n.416-17C>A) c.383-17C>A (n.383-17C>A) c.635-17C>A (n.635-17C>A) c.614-1224C>A (n.614-1224C>A) c.614-20C>A (n.614-20C>A) c.383-1224C>A (n.383-1224C>A) | gnomAD v4 |
| 6 | g.73636725A>G | CA2679404574 | SLC17A5 | c.614-18T>C (n.614-18T>C) n.380-18T>C c.563-18T>C (n.563-18T>C) c.416-18T>C (n.416-18T>C) c.383-18T>C (n.383-18T>C) c.635-18T>C (n.635-18T>C) c.614-1225T>C (n.614-1225T>C) c.614-21T>C (n.614-21T>C) c.383-1225T>C (n.383-1225T>C) | gnomAD v4 |
| 6 | g.73636728A= | CA1638219203 | SLC17A5 | c.614-21T= (n.614-21T=) n.380-21T= c.563-21T= (n.563-21T=) c.416-21T= (n.416-21T=) c.383-21T= (n.383-21T=) c.635-21T= (n.635-21T=) c.614-1228T= (n.614-1228T=) c.614-24T= (n.614-24T=) c.383-1228T= (n.383-1228T=) | |
| 6 | g.73636728A>G | CA3890481 | SLC17A5 | c.614-21T>C (n.614-21T>C) n.380-21T>C c.563-21T>C (n.563-21T>C) c.416-21T>C (n.416-21T>C) c.383-21T>C (n.383-21T>C) c.635-21T>C (n.635-21T>C) c.614-1228T>C (n.614-1228T>C) c.614-24T>C (n.614-24T>C) c.383-1228T>C (n.383-1228T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.73636729T>A | CA2679404575 | SLC17A5 | c.614-22A>T (n.614-22A>T) n.380-22A>T c.563-22A>T (n.563-22A>T) c.416-22A>T (n.416-22A>T) c.383-22A>T (n.383-22A>T) c.635-22A>T (n.635-22A>T) c.614-1229A>T (n.614-1229A>T) c.614-25A>T (n.614-25A>T) c.383-1229A>T (n.383-1229A>T) | gnomAD v4 |
| 6 | g.73636730T>C | CA2679404577 | SLC17A5 | c.614-23A>G (n.614-23A>G) n.380-23A>G c.563-23A>G (n.563-23A>G) c.416-23A>G (n.416-23A>G) c.383-23A>G (n.383-23A>G) c.635-23A>G (n.635-23A>G) c.614-1230A>G (n.614-1230A>G) c.614-26A>G (n.614-26A>G) c.383-1230A>G (n.383-1230A>G) | gnomAD v4 |
| 6 | g.73636730T>G | CA2578669762 | SLC17A5 | c.614-23A>C (n.614-23A>C) n.380-23A>C c.563-23A>C (n.563-23A>C) c.416-23A>C (n.416-23A>C) c.383-23A>C (n.383-23A>C) c.635-23A>C (n.635-23A>C) c.614-1230A>C (n.614-1230A>C) c.614-26A>C (n.614-26A>C) c.383-1230A>C (n.383-1230A>C) | |
| 6 | g.73636731_73636734del | CA2679404576 | SLC17A5 | c.614-26_614-23del (n.614-26_614-23del) n.380-26_380-23del c.563-26_563-23del (n.563-26_563-23del) c.416-26_416-23del (n.416-26_416-23del) c.383-26_383-23del (n.383-26_383-23del) c.635-26_635-23del (n.635-26_635-23del) c.614-1233_614-1230del (n.614-1233_614-1230del) c.614-29_614-26del (n.614-29_614-26del) c.383-1233_383-1230del (n.383-1233_383-1230del) | gnomAD v4 |
| 6 | g.73636731T>C | CA2679404578 | SLC17A5 | c.614-24A>G (n.614-24A>G) n.380-24A>G c.563-24A>G (n.563-24A>G) c.416-24A>G (n.416-24A>G) c.383-24A>G (n.383-24A>G) c.635-24A>G (n.635-24A>G) c.614-1231A>G (n.614-1231A>G) c.614-27A>G (n.614-27A>G) c.383-1231A>G (n.383-1231A>G) | gnomAD v4 |
| 6 | g.73636732T>C | CA1090530254 | SLC17A5 | c.614-25A>G (n.614-25A>G) n.380-25A>G c.563-25A>G (n.563-25A>G) c.416-25A>G (n.416-25A>G) c.383-25A>G (n.383-25A>G) c.635-25A>G (n.635-25A>G) c.614-1232A>G (n.614-1232A>G) c.614-28A>G (n.614-28A>G) c.383-1232A>G (n.383-1232A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.73636732T= | CA1638219204 | SLC17A5 | c.614-25A= (n.614-25A=) n.380-25A= c.563-25A= (n.563-25A=) c.416-25A= (n.416-25A=) c.383-25A= (n.383-25A=) c.635-25A= (n.635-25A=) c.614-1232A= (n.614-1232A=) c.614-28A= (n.614-28A=) c.383-1232A= (n.383-1232A=) | |
| 6 | g.73636733A>G | CA2679404579 | SLC17A5 | c.614-26T>C (n.614-26T>C) n.380-26T>C c.563-26T>C (n.563-26T>C) c.416-26T>C (n.416-26T>C) c.383-26T>C (n.383-26T>C) c.635-26T>C (n.635-26T>C) c.614-1233T>C (n.614-1233T>C) c.614-29T>C (n.614-29T>C) c.383-1233T>C (n.383-1233T>C) | gnomAD v4 |
| 6 | g.73636734T>C | CA567686246 | SLC17A5 | c.614-27A>G (n.614-27A>G) n.380-27A>G c.563-27A>G (n.563-27A>G) c.416-27A>G (n.416-27A>G) c.383-27A>G (n.383-27A>G) c.635-27A>G (n.635-27A>G) c.614-1234A>G (n.614-1234A>G) c.614-30A>G (n.614-30A>G) c.383-1234A>G (n.383-1234A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.73636734T= | CA1638219207 | SLC17A5 | c.614-27A= (n.614-27A=) n.380-27A= c.563-27A= (n.563-27A=) c.416-27A= (n.416-27A=) c.383-27A= (n.383-27A=) c.635-27A= (n.635-27A=) c.614-1234A= (n.614-1234A=) c.614-30A= (n.614-30A=) c.383-1234A= (n.383-1234A=) | |
| 6 | g.73636734_73636738delinsTAAAC | CA1638219208 | SLC17A5 | c.614-31_614-27delinsGTTTA (n.614-31_614-27delinsGTTTA) n.380-31_380-27delinsGTTTA c.563-31_563-27delinsGTTTA (n.563-31_563-27delinsGTTTA) c.416-31_416-27delinsGTTTA (n.416-31_416-27delinsGTTTA) c.383-31_383-27delinsGTTTA (n.383-31_383-27delinsGTTTA) c.635-31_635-27delinsGTTTA (n.635-31_635-27delinsGTTTA) c.614-1238_614-1234delinsGTTTA (n.614-1238_614-1234delinsGTTTA) c.614-34_614-30delinsGTTTA (n.614-34_614-30delinsGTTTA) c.383-1238_383-1234delinsGTTTA (n.383-1238_383-1234delinsGTTTA) | |
| 6 | g.73636735A= | CA1638219212 | SLC17A5 | c.614-28T= (n.614-28T=) n.380-28T= c.563-28T= (n.563-28T=) c.416-28T= (n.416-28T=) c.383-28T= (n.383-28T=) c.635-28T= (n.635-28T=) c.614-1235T= (n.614-1235T=) c.614-31T= (n.614-31T=) c.383-1235T= (n.383-1235T=) | |
| 6 | g.73636735A>C | CA3890482 | SLC17A5 | c.614-28T>G (n.614-28T>G) n.380-28T>G c.563-28T>G (n.563-28T>G) c.416-28T>G (n.416-28T>G) c.383-28T>G (n.383-28T>G) c.635-28T>G (n.635-28T>G) c.614-1235T>G (n.614-1235T>G) c.614-31T>G (n.614-31T>G) c.383-1235T>G (n.383-1235T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.73636735A>T | CA2679404580 | SLC17A5 | c.614-28T>A (n.614-28T>A) n.380-28T>A c.563-28T>A (n.563-28T>A) c.416-28T>A (n.416-28T>A) c.383-28T>A (n.383-28T>A) c.635-28T>A (n.635-28T>A) c.614-1235T>A (n.614-1235T>A) c.614-31T>A (n.614-31T>A) c.383-1235T>A (n.383-1235T>A) | gnomAD v4 |
| 6 | g.73636735_73636738del | CA567686247 | SLC17A5 | c.614-31_614-28del (n.614-31_614-28del) n.380-31_380-28del c.563-31_563-28del (n.563-31_563-28del) c.416-31_416-28del (n.416-31_416-28del) c.383-31_383-28del (n.383-31_383-28del) c.635-31_635-28del (n.635-31_635-28del) c.614-1238_614-1235del (n.614-1238_614-1235del) c.614-34_614-31del (n.614-34_614-31del) c.383-1238_383-1235del (n.383-1238_383-1235del) | dbSNP gnomAD v2 |