Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73600318C>A | CA3890283 | SLC17A5 | c.1350+33G>T (n.1350+33G>T) c.1299+33G>T (n.1299+33G>T) c.1152+33G>T (n.1152+33G>T) c.*8+33G>T (n.*8+33G>T) c.1119+33G>T (n.1119+33G>T) c.1260-5104G>T (n.1260-5104G>T) c.1371+33G>T (n.1371+33G>T) c.1263+33G>T (n.1263+33G>T) c.1191+33G>T (n.1191+33G>T) c.1347+33G>T (n.1347+33G>T) c.1032+33G>T (n.1032+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600318C= | CA1638223772 | SLC17A5 | c.1350+33G= (n.1350+33G=) c.1299+33G= (n.1299+33G=) c.1152+33G= (n.1152+33G=) c.*8+33G= (n.*8+33G=) c.1119+33G= (n.1119+33G=) c.1260-5104G= (n.1260-5104G=) c.1371+33G= (n.1371+33G=) c.1263+33G= (n.1263+33G=) c.1191+33G= (n.1191+33G=) c.1347+33G= (n.1347+33G=) c.1032+33G= (n.1032+33G=) | |
6 | g.73600318C>G | CA1638223774 | SLC17A5 | c.1350+33G>C (n.1350+33G>C) c.1299+33G>C (n.1299+33G>C) c.1152+33G>C (n.1152+33G>C) c.*8+33G>C (n.*8+33G>C) c.1119+33G>C (n.1119+33G>C) c.1260-5104G>C (n.1260-5104G>C) c.1371+33G>C (n.1371+33G>C) c.1263+33G>C (n.1263+33G>C) c.1191+33G>C (n.1191+33G>C) c.1347+33G>C (n.1347+33G>C) c.1032+33G>C (n.1032+33G>C) | dbSNP |
6 | g.73600318C>T | CA567701025 | SLC17A5 | c.1350+33G>A (n.1350+33G>A) c.1299+33G>A (n.1299+33G>A) c.1152+33G>A (n.1152+33G>A) c.*8+33G>A (n.*8+33G>A) c.1119+33G>A (n.1119+33G>A) c.1260-5104G>A (n.1260-5104G>A) c.1371+33G>A (n.1371+33G>A) c.1263+33G>A (n.1263+33G>A) c.1191+33G>A (n.1191+33G>A) c.1347+33G>A (n.1347+33G>A) c.1032+33G>A (n.1032+33G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73600319C>T | CA2578669509 | SLC17A5 | c.1350+32G>A (n.1350+32G>A) c.1299+32G>A (n.1299+32G>A) c.1152+32G>A (n.1152+32G>A) c.*8+32G>A (n.*8+32G>A) c.1119+32G>A (n.1119+32G>A) c.1260-5105G>A (n.1260-5105G>A) c.1371+32G>A (n.1371+32G>A) c.1263+32G>A (n.1263+32G>A) c.1191+32G>A (n.1191+32G>A) c.1347+32G>A (n.1347+32G>A) c.1032+32G>A (n.1032+32G>A) | gnomAD v4 |
6 | g.73600320T>C | CA2679403299 | SLC17A5 | c.1350+31A>G (n.1350+31A>G) c.1299+31A>G (n.1299+31A>G) c.1152+31A>G (n.1152+31A>G) c.*8+31A>G (n.*8+31A>G) c.1119+31A>G (n.1119+31A>G) c.1260-5106A>G (n.1260-5106A>G) c.1371+31A>G (n.1371+31A>G) c.1263+31A>G (n.1263+31A>G) c.1191+31A>G (n.1191+31A>G) c.1347+31A>G (n.1347+31A>G) c.1032+31A>G (n.1032+31A>G) | gnomAD v4 |
6 | g.73600320T>G | CA3890284 | SLC17A5 | c.1350+31A>C (n.1350+31A>C) c.1299+31A>C (n.1299+31A>C) c.1152+31A>C (n.1152+31A>C) c.*8+31A>C (n.*8+31A>C) c.1119+31A>C (n.1119+31A>C) c.1260-5106A>C (n.1260-5106A>C) c.1371+31A>C (n.1371+31A>C) c.1263+31A>C (n.1263+31A>C) c.1191+31A>C (n.1191+31A>C) c.1347+31A>C (n.1347+31A>C) c.1032+31A>C (n.1032+31A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600320T= | CA1638223776 | SLC17A5 | c.1350+31A= (n.1350+31A=) c.1299+31A= (n.1299+31A=) c.1152+31A= (n.1152+31A=) c.*8+31A= (n.*8+31A=) c.1119+31A= (n.1119+31A=) c.1260-5106A= (n.1260-5106A=) c.1371+31A= (n.1371+31A=) c.1263+31A= (n.1263+31A=) c.1191+31A= (n.1191+31A=) c.1347+31A= (n.1347+31A=) c.1032+31A= (n.1032+31A=) | |
6 | g.73600321T>A | CA2578669510 | SLC17A5 | c.1350+30A>T (n.1350+30A>T) c.1299+30A>T (n.1299+30A>T) c.1152+30A>T (n.1152+30A>T) c.*8+30A>T (n.*8+30A>T) c.1119+30A>T (n.1119+30A>T) c.1260-5107A>T (n.1260-5107A>T) c.1371+30A>T (n.1371+30A>T) c.1263+30A>T (n.1263+30A>T) c.1191+30A>T (n.1191+30A>T) c.1347+30A>T (n.1347+30A>T) c.1032+30A>T (n.1032+30A>T) | gnomAD v4 |
6 | g.73600322T>C | CA2679403300 | SLC17A5 | c.1350+29A>G (n.1350+29A>G) c.1299+29A>G (n.1299+29A>G) c.1152+29A>G (n.1152+29A>G) c.*8+29A>G (n.*8+29A>G) c.1119+29A>G (n.1119+29A>G) c.1260-5108A>G (n.1260-5108A>G) c.1371+29A>G (n.1371+29A>G) c.1263+29A>G (n.1263+29A>G) c.1191+29A>G (n.1191+29A>G) c.1347+29A>G (n.1347+29A>G) c.1032+29A>G (n.1032+29A>G) | gnomAD v4 |
6 | g.73600323C>T | CA2679403301 | SLC17A5 | c.1350+28G>A (n.1350+28G>A) c.1299+28G>A (n.1299+28G>A) c.1152+28G>A (n.1152+28G>A) c.*8+28G>A (n.*8+28G>A) c.1119+28G>A (n.1119+28G>A) c.1260-5109G>A (n.1260-5109G>A) c.1371+28G>A (n.1371+28G>A) c.1263+28G>A (n.1263+28G>A) c.1191+28G>A (n.1191+28G>A) c.1347+28G>A (n.1347+28G>A) c.1032+28G>A (n.1032+28G>A) | gnomAD v4 |
6 | g.73600324C>T | CA2679403302 | SLC17A5 | c.1350+27G>A (n.1350+27G>A) c.1299+27G>A (n.1299+27G>A) c.1152+27G>A (n.1152+27G>A) c.*8+27G>A (n.*8+27G>A) c.1119+27G>A (n.1119+27G>A) c.1260-5110G>A (n.1260-5110G>A) c.1371+27G>A (n.1371+27G>A) c.1263+27G>A (n.1263+27G>A) c.1191+27G>A (n.1191+27G>A) c.1347+27G>A (n.1347+27G>A) c.1032+27G>A (n.1032+27G>A) | gnomAD v4 |
6 | g.73600325A>C | CA2578669511 | SLC17A5 | c.1350+26T>G (n.1350+26T>G) c.1299+26T>G (n.1299+26T>G) c.1152+26T>G (n.1152+26T>G) c.*8+26T>G (n.*8+26T>G) c.1119+26T>G (n.1119+26T>G) c.1260-5111T>G (n.1260-5111T>G) c.1371+26T>G (n.1371+26T>G) c.1263+26T>G (n.1263+26T>G) c.1191+26T>G (n.1191+26T>G) c.1347+26T>G (n.1347+26T>G) c.1032+26T>G (n.1032+26T>G) | |
6 | g.73600325A>G | CA2679403303 | SLC17A5 | c.1350+26T>C (n.1350+26T>C) c.1299+26T>C (n.1299+26T>C) c.1152+26T>C (n.1152+26T>C) c.*8+26T>C (n.*8+26T>C) c.1119+26T>C (n.1119+26T>C) c.1260-5111T>C (n.1260-5111T>C) c.1371+26T>C (n.1371+26T>C) c.1263+26T>C (n.1263+26T>C) c.1191+26T>C (n.1191+26T>C) c.1347+26T>C (n.1347+26T>C) c.1032+26T>C (n.1032+26T>C) | gnomAD v4 |
6 | g.73600326G>T | CA2679403304 | SLC17A5 | c.1350+25C>A (n.1350+25C>A) c.1299+25C>A (n.1299+25C>A) c.1152+25C>A (n.1152+25C>A) c.*8+25C>A (n.*8+25C>A) c.1119+25C>A (n.1119+25C>A) c.1260-5112C>A (n.1260-5112C>A) c.1371+25C>A (n.1371+25C>A) c.1263+25C>A (n.1263+25C>A) c.1191+25C>A (n.1191+25C>A) c.1347+25C>A (n.1347+25C>A) c.1032+25C>A (n.1032+25C>A) | gnomAD v4 |
6 | g.73600334G>T | CA2679403305 | SLC17A5 | c.1350+17C>A (n.1350+17C>A) c.1299+17C>A (n.1299+17C>A) c.1152+17C>A (n.1152+17C>A) c.*8+17C>A (n.*8+17C>A) c.1119+17C>A (n.1119+17C>A) c.1260-5120C>A (n.1260-5120C>A) c.1371+17C>A (n.1371+17C>A) c.1263+17C>A (n.1263+17C>A) c.1191+17C>A (n.1191+17C>A) c.1347+17C>A (n.1347+17C>A) c.1032+17C>A (n.1032+17C>A) | gnomAD v4 |
6 | g.73600335T>C | CA2679403306 | SLC17A5 | c.1350+16A>G (n.1350+16A>G) c.1299+16A>G (n.1299+16A>G) c.1152+16A>G (n.1152+16A>G) c.*8+16A>G (n.*8+16A>G) c.1119+16A>G (n.1119+16A>G) c.1260-5121A>G (n.1260-5121A>G) c.1371+16A>G (n.1371+16A>G) c.1263+16A>G (n.1263+16A>G) c.1191+16A>G (n.1191+16A>G) c.1347+16A>G (n.1347+16A>G) c.1032+16A>G (n.1032+16A>G) | gnomAD v4 |
6 | g.73600336A>G | CA2739273234 | SLC17A5 | c.1350+15T>C (n.1350+15T>C) c.1299+15T>C (n.1299+15T>C) c.1152+15T>C (n.1152+15T>C) c.*8+15T>C (n.*8+15T>C) c.1119+15T>C (n.1119+15T>C) c.1260-5122T>C (n.1260-5122T>C) c.1371+15T>C (n.1371+15T>C) c.1263+15T>C (n.1263+15T>C) c.1191+15T>C (n.1191+15T>C) c.1347+15T>C (n.1347+15T>C) c.1032+15T>C (n.1032+15T>C) | ClinVar |
6 | g.73600337A>C | CA2578669513 | SLC17A5 | c.1350+14T>G (n.1350+14T>G) c.1299+14T>G (n.1299+14T>G) c.1152+14T>G (n.1152+14T>G) c.*8+14T>G (n.*8+14T>G) c.1119+14T>G (n.1119+14T>G) c.1260-5123T>G (n.1260-5123T>G) c.1371+14T>G (n.1371+14T>G) c.1263+14T>G (n.1263+14T>G) c.1191+14T>G (n.1191+14T>G) c.1347+14T>G (n.1347+14T>G) c.1032+14T>G (n.1032+14T>G) | |
6 | g.73600337A>G | CA2578669514 | SLC17A5 | c.1350+14T>C (n.1350+14T>C) c.1299+14T>C (n.1299+14T>C) c.1152+14T>C (n.1152+14T>C) c.*8+14T>C (n.*8+14T>C) c.1119+14T>C (n.1119+14T>C) c.1260-5123T>C (n.1260-5123T>C) c.1371+14T>C (n.1371+14T>C) c.1263+14T>C (n.1263+14T>C) c.1191+14T>C (n.1191+14T>C) c.1347+14T>C (n.1347+14T>C) c.1032+14T>C (n.1032+14T>C) | |
6 | g.73600337A>T | CA2679403307 | SLC17A5 | c.1350+14T>A (n.1350+14T>A) c.1299+14T>A (n.1299+14T>A) c.1152+14T>A (n.1152+14T>A) c.*8+14T>A (n.*8+14T>A) c.1119+14T>A (n.1119+14T>A) c.1260-5123T>A (n.1260-5123T>A) c.1371+14T>A (n.1371+14T>A) c.1263+14T>A (n.1263+14T>A) c.1191+14T>A (n.1191+14T>A) c.1347+14T>A (n.1347+14T>A) c.1032+14T>A (n.1032+14T>A) | gnomAD v4 |
6 | g.73600338A>C | CA2697553540 | SLC17A5 | c.1350+13T>G (n.1350+13T>G) c.1299+13T>G (n.1299+13T>G) c.1152+13T>G (n.1152+13T>G) c.*8+13T>G (n.*8+13T>G) c.1119+13T>G (n.1119+13T>G) c.1260-5124T>G (n.1260-5124T>G) c.1371+13T>G (n.1371+13T>G) c.1263+13T>G (n.1263+13T>G) c.1191+13T>G (n.1191+13T>G) c.1347+13T>G (n.1347+13T>G) c.1032+13T>G (n.1032+13T>G) | ClinVar |
6 | g.73600340T>A | CA2578669516 | SLC17A5 | c.1350+11A>T (n.1350+11A>T) c.1299+11A>T (n.1299+11A>T) c.1152+11A>T (n.1152+11A>T) c.*8+11A>T (n.*8+11A>T) c.1119+11A>T (n.1119+11A>T) c.1260-5126A>T (n.1260-5126A>T) c.1371+11A>T (n.1371+11A>T) c.1263+11A>T (n.1263+11A>T) c.1191+11A>T (n.1191+11A>T) c.1347+11A>T (n.1347+11A>T) c.1032+11A>T (n.1032+11A>T) | |
6 | g.73600340T>C | CA2679403308 | SLC17A5 | c.1350+11A>G (n.1350+11A>G) c.1299+11A>G (n.1299+11A>G) c.1152+11A>G (n.1152+11A>G) c.*8+11A>G (n.*8+11A>G) c.1119+11A>G (n.1119+11A>G) c.1260-5126A>G (n.1260-5126A>G) c.1371+11A>G (n.1371+11A>G) c.1263+11A>G (n.1263+11A>G) c.1191+11A>G (n.1191+11A>G) c.1347+11A>G (n.1347+11A>G) c.1032+11A>G (n.1032+11A>G) | gnomAD v4 |
6 | g.73600341A= | CA1638223778 | SLC17A5 | c.1350+10T= (n.1350+10T=) c.1299+10T= (n.1299+10T=) c.1152+10T= (n.1152+10T=) c.*8+10T= (n.*8+10T=) c.1119+10T= (n.1119+10T=) c.1260-5127T= (n.1260-5127T=) c.1371+10T= (n.1371+10T=) c.1263+10T= (n.1263+10T=) c.1191+10T= (n.1191+10T=) c.1347+10T= (n.1347+10T=) c.1032+10T= (n.1032+10T=) | |
6 | g.73600341A>C | CA140972045 | SLC17A5 | c.1350+10T>G (n.1350+10T>G) c.1299+10T>G (n.1299+10T>G) c.1152+10T>G (n.1152+10T>G) c.*8+10T>G (n.*8+10T>G) c.1119+10T>G (n.1119+10T>G) c.1260-5127T>G (n.1260-5127T>G) c.1371+10T>G (n.1371+10T>G) c.1263+10T>G (n.1263+10T>G) c.1191+10T>G (n.1191+10T>G) c.1347+10T>G (n.1347+10T>G) c.1032+10T>G (n.1032+10T>G) | dbSNP gnomAD v4 |
6 | g.73600343C= | CA1638223780 | SLC17A5 | c.1350+8G= (n.1350+8G=) c.1299+8G= (n.1299+8G=) c.1152+8G= (n.1152+8G=) c.*8+8G= (n.*8+8G=) c.1119+8G= (n.1119+8G=) c.1260-5129G= (n.1260-5129G=) c.1371+8G= (n.1371+8G=) c.1263+8G= (n.1263+8G=) c.1191+8G= (n.1191+8G=) c.1347+8G= (n.1347+8G=) c.1032+8G= (n.1032+8G=) | |
6 | g.73600343C>G | CA140972050 | SLC17A5 | c.1350+8G>C (n.1350+8G>C) c.1299+8G>C (n.1299+8G>C) c.1152+8G>C (n.1152+8G>C) c.*8+8G>C (n.*8+8G>C) c.1119+8G>C (n.1119+8G>C) c.1260-5129G>C (n.1260-5129G>C) c.1371+8G>C (n.1371+8G>C) c.1263+8G>C (n.1263+8G>C) c.1191+8G>C (n.1191+8G>C) c.1347+8G>C (n.1347+8G>C) c.1032+8G>C (n.1032+8G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.73600343C>T | CA2578669517 | SLC17A5 | c.1350+8G>A (n.1350+8G>A) c.1299+8G>A (n.1299+8G>A) c.1152+8G>A (n.1152+8G>A) c.*8+8G>A (n.*8+8G>A) c.1119+8G>A (n.1119+8G>A) c.1260-5129G>A (n.1260-5129G>A) c.1371+8G>A (n.1371+8G>A) c.1263+8G>A (n.1263+8G>A) c.1191+8G>A (n.1191+8G>A) c.1347+8G>A (n.1347+8G>A) c.1032+8G>A (n.1032+8G>A) | |
6 | g.73600345A= | CA1638223782 | SLC17A5 | c.1350+6T= (n.1350+6T=) c.1299+6T= (n.1299+6T=) c.1152+6T= (n.1152+6T=) c.*8+6T= (n.*8+6T=) c.1119+6T= (n.1119+6T=) c.1260-5131T= (n.1260-5131T=) c.1371+6T= (n.1371+6T=) c.1263+6T= (n.1263+6T=) c.1191+6T= (n.1191+6T=) c.1347+6T= (n.1347+6T=) c.1032+6T= (n.1032+6T=) | |
6 | g.73600345A>C | CA2679403309 | SLC17A5 | c.1350+6T>G (n.1350+6T>G) c.1299+6T>G (n.1299+6T>G) c.1152+6T>G (n.1152+6T>G) c.*8+6T>G (n.*8+6T>G) c.1119+6T>G (n.1119+6T>G) c.1260-5131T>G (n.1260-5131T>G) c.1371+6T>G (n.1371+6T>G) c.1263+6T>G (n.1263+6T>G) c.1191+6T>G (n.1191+6T>G) c.1347+6T>G (n.1347+6T>G) c.1032+6T>G (n.1032+6T>G) | gnomAD v4 |
6 | g.73600345A>G | CA567701026 | SLC17A5 | c.1350+6T>C (n.1350+6T>C) c.1299+6T>C (n.1299+6T>C) c.1152+6T>C (n.1152+6T>C) c.*8+6T>C (n.*8+6T>C) c.1119+6T>C (n.1119+6T>C) c.1260-5131T>C (n.1260-5131T>C) c.1371+6T>C (n.1371+6T>C) c.1263+6T>C (n.1263+6T>C) c.1191+6T>C (n.1191+6T>C) c.1347+6T>C (n.1347+6T>C) c.1032+6T>C (n.1032+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73600346C>T | CA2679403310 | SLC17A5 | c.1350+5G>A (n.1350+5G>A) c.1299+5G>A (n.1299+5G>A) c.1152+5G>A (n.1152+5G>A) c.*8+5G>A (n.*8+5G>A) c.1119+5G>A (n.1119+5G>A) c.1260-5132G>A (n.1260-5132G>A) c.1371+5G>A (n.1371+5G>A) c.1263+5G>A (n.1263+5G>A) c.1191+5G>A (n.1191+5G>A) c.1347+5G>A (n.1347+5G>A) c.1032+5G>A (n.1032+5G>A) | gnomAD v4 |
6 | g.73600348T>C | CA2679403311 | SLC17A5 | c.1350+3A>G (n.1350+3A>G) c.1299+3A>G (n.1299+3A>G) c.1152+3A>G (n.1152+3A>G) c.*8+3A>G (n.*8+3A>G) c.1119+3A>G (n.1119+3A>G) c.1260-5134A>G (n.1260-5134A>G) c.1371+3A>G (n.1371+3A>G) c.1263+3A>G (n.1263+3A>G) c.1191+3A>G (n.1191+3A>G) c.1347+3A>G (n.1347+3A>G) c.1032+3A>G (n.1032+3A>G) | gnomAD v4 |
6 | g.73600348T>G | CA2679403312 | SLC17A5 | c.1350+3A>C (n.1350+3A>C) c.1299+3A>C (n.1299+3A>C) c.1152+3A>C (n.1152+3A>C) c.*8+3A>C (n.*8+3A>C) c.1119+3A>C (n.1119+3A>C) c.1260-5134A>C (n.1260-5134A>C) c.1371+3A>C (n.1371+3A>C) c.1263+3A>C (n.1263+3A>C) c.1191+3A>C (n.1191+3A>C) c.1347+3A>C (n.1347+3A>C) c.1032+3A>C (n.1032+3A>C) | gnomAD v4 |
6 | g.73600349A= | CA1638223784 | SLC17A5 | c.1350+2T= (n.1350+2T=) c.1299+2T= (n.1299+2T=) c.1152+2T= (n.1152+2T=) c.*8+2T= (n.*8+2T=) c.1119+2T= (n.1119+2T=) c.1260-5135T= (n.1260-5135T=) c.1371+2T= (n.1371+2T=) c.1263+2T= (n.1263+2T=) c.1191+2T= (n.1191+2T=) c.1347+2T= (n.1347+2T=) c.1032+2T= (n.1032+2T=) | |
6 | g.73600349A>C | CA364719919 | SLC17A5 | c.1350+2T>G (n.1350+2T>G) c.1299+2T>G (n.1299+2T>G) c.1152+2T>G (n.1152+2T>G) c.*8+2T>G (n.*8+2T>G) c.1119+2T>G (n.1119+2T>G) c.1260-5135T>G (n.1260-5135T>G) c.1371+2T>G (n.1371+2T>G) c.1263+2T>G (n.1263+2T>G) c.1191+2T>G (n.1191+2T>G) c.1347+2T>G (n.1347+2T>G) c.1032+2T>G (n.1032+2T>G) | |
6 | g.73600349A>G | CA364719920 | SLC17A5 | c.1350+2T>C (n.1350+2T>C) c.1299+2T>C (n.1299+2T>C) c.1152+2T>C (n.1152+2T>C) c.*8+2T>C (n.*8+2T>C) c.1119+2T>C (n.1119+2T>C) c.1260-5135T>C (n.1260-5135T>C) c.1371+2T>C (n.1371+2T>C) c.1263+2T>C (n.1263+2T>C) c.1191+2T>C (n.1191+2T>C) c.1347+2T>C (n.1347+2T>C) c.1032+2T>C (n.1032+2T>C) | |
6 | g.73600349A>T | CA364719917 | SLC17A5 | c.1350+2T>A (n.1350+2T>A) c.1299+2T>A (n.1299+2T>A) c.1152+2T>A (n.1152+2T>A) c.*8+2T>A (n.*8+2T>A) c.1119+2T>A (n.1119+2T>A) c.1260-5135T>A (n.1260-5135T>A) c.1371+2T>A (n.1371+2T>A) c.1263+2T>A (n.1263+2T>A) c.1191+2T>A (n.1191+2T>A) c.1347+2T>A (n.1347+2T>A) c.1032+2T>A (n.1032+2T>A) | |
6 | g.73600349_73600350insT | CA1638223788 | SLC17A5 | c.1350+1_1350+2insA (n.1350+1_1350+2insA) c.1299+1_1299+2insA (n.1299+1_1299+2insA) c.1152+1_1152+2insA (n.1152+1_1152+2insA) c.*8+1_*8+2insA (n.*8+1_*8+2insA) c.1119+1_1119+2insA (n.1119+1_1119+2insA) c.1260-5136_1260-5135insA (n.1260-5136_1260-5135insA) c.1371+1_1371+2insA (n.1371+1_1371+2insA) c.1263+1_1263+2insA (n.1263+1_1263+2insA) c.1191+1_1191+2insA (n.1191+1_1191+2insA) c.1347+1_1347+2insA (n.1347+1_1347+2insA) c.1032+1_1032+2insA (n.1032+1_1032+2insA) | dbSNP |
6 | g.73600350C>A | CA364719922 | SLC17A5 | c.1350+1G>T (n.1350+1G>T) c.1299+1G>T (n.1299+1G>T) c.1152+1G>T (n.1152+1G>T) c.*8+1G>T (n.*8+1G>T) c.1119+1G>T (n.1119+1G>T) c.1260-5136G>T (n.1260-5136G>T) c.1371+1G>T (n.1371+1G>T) c.1263+1G>T (n.1263+1G>T) c.1191+1G>T (n.1191+1G>T) c.1347+1G>T (n.1347+1G>T) c.1032+1G>T (n.1032+1G>T) | |
6 | g.73600350C= | CA1638223790 | SLC17A5 | c.1350+1G= (n.1350+1G=) c.1299+1G= (n.1299+1G=) c.1152+1G= (n.1152+1G=) c.*8+1G= (n.*8+1G=) c.1119+1G= (n.1119+1G=) c.1260-5136G= (n.1260-5136G=) c.1371+1G= (n.1371+1G=) c.1263+1G= (n.1263+1G=) c.1191+1G= (n.1191+1G=) c.1347+1G= (n.1347+1G=) c.1032+1G= (n.1032+1G=) | |
6 | g.73600350C>G | CA364719921 | SLC17A5 | c.1350+1G>C (n.1350+1G>C) c.1299+1G>C (n.1299+1G>C) c.1152+1G>C (n.1152+1G>C) c.*8+1G>C (n.*8+1G>C) c.1119+1G>C (n.1119+1G>C) c.1260-5136G>C (n.1260-5136G>C) c.1371+1G>C (n.1371+1G>C) c.1263+1G>C (n.1263+1G>C) c.1191+1G>C (n.1191+1G>C) c.1347+1G>C (n.1347+1G>C) c.1032+1G>C (n.1032+1G>C) | |
6 | g.73600350C>T | CA16041076 | SLC17A5 | c.1350+1G>A (n.1350+1G>A) c.1299+1G>A (n.1299+1G>A) c.1152+1G>A (n.1152+1G>A) c.*8+1G>A (n.*8+1G>A) c.1119+1G>A (n.1119+1G>A) c.1260-5136G>A (n.1260-5136G>A) c.1371+1G>A (n.1371+1G>A) c.1263+1G>A (n.1263+1G>A) c.1191+1G>A (n.1191+1G>A) c.1347+1G>A (n.1347+1G>A) c.1032+1G>A (n.1032+1G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.73600351A>C | CA364719923 | SLC17A5 | c.1350T>G (p.Asp450Glu) c.1299T>G (p.Asp433Glu) c.1152T>G (p.Asp384Glu) c.*8T>G (n.*8T>G) c.1119T>G (p.Asp373Glu) c.1260-5137T>G (n.1260-5137T>G) c.1371T>G (p.Asp457Glu) c.1263T>G (p.Asp421Glu) c.1191T>G (p.Asp397Glu) c.1347T>G (p.Asp449Glu) c.1032T>G (p.Asp344Glu) | |
6 | g.73600351A>G | CA450912518 | SLC17A5 | c.1350T>C (p.Asp450=) c.1299T>C (p.Asp433=) c.1152T>C (p.Asp384=) c.*8T>C (n.*8T>C) c.1119T>C (p.Asp373=) c.1260-5137T>C (n.1260-5137T>C) c.1371T>C (p.Asp457=) c.1263T>C (p.Asp421=) c.1191T>C (p.Asp397=) c.1347T>C (p.Asp449=) c.1032T>C (p.Asp344=) | |
6 | g.73600351A>T | CA364719924 | SLC17A5 | c.1350T>A (p.Asp450Glu) c.1299T>A (p.Asp433Glu) c.1152T>A (p.Asp384Glu) c.*8T>A (n.*8T>A) c.1119T>A (p.Asp373Glu) c.1260-5137T>A (n.1260-5137T>A) c.1371T>A (p.Asp457Glu) c.1263T>A (p.Asp421Glu) c.1191T>A (p.Asp397Glu) c.1347T>A (p.Asp449Glu) c.1032T>A (p.Asp344Glu) | gnomAD v4 |
6 | g.73600352T>A | CA140972055 | SLC17A5 | c.1349A>T (p.Asp450Val) c.1298A>T (p.Asp433Val) c.1151A>T (p.Asp384Val) c.*7A>T (n.*7A>T) c.1118A>T (p.Asp373Val) c.1260-5138A>T (n.1260-5138A>T) c.1370A>T (p.Asp457Val) c.1262A>T (p.Asp421Val) c.1190A>T (p.Asp397Val) c.1346A>T (p.Asp449Val) c.1031A>T (p.Asp344Val) | dbSNP gnomAD v4 |
6 | g.73600352T>C | CA364719925 | SLC17A5 | c.1349A>G (p.Asp450Gly) c.1298A>G (p.Asp433Gly) c.1151A>G (p.Asp384Gly) c.*7A>G (n.*7A>G) c.1118A>G (p.Asp373Gly) c.1260-5138A>G (n.1260-5138A>G) c.1370A>G (p.Asp457Gly) c.1262A>G (p.Asp421Gly) c.1190A>G (p.Asp397Gly) c.1346A>G (p.Asp449Gly) c.1031A>G (p.Asp344Gly) | ClinVar |
6 | g.73600352T>G | CA364719926 | SLC17A5 | c.1349A>C (p.Asp450Ala) c.1298A>C (p.Asp433Ala) c.1151A>C (p.Asp384Ala) c.*7A>C (n.*7A>C) c.1118A>C (p.Asp373Ala) c.1260-5138A>C (n.1260-5138A>C) c.1370A>C (p.Asp457Ala) c.1262A>C (p.Asp421Ala) c.1190A>C (p.Asp397Ala) c.1346A>C (p.Asp449Ala) c.1031A>C (p.Asp344Ala) | |
6 | g.73600352T= | CA1638223799 | SLC17A5 | c.1349A= (p.Asp450=) c.1298A= (p.Asp433=) c.1151A= (p.Asp384=) c.*7A= (n.*7A=) c.1118A= (p.Asp373=) c.1260-5138A= (n.1260-5138A=) c.1370A= (p.Asp457=) c.1262A= (p.Asp421=) c.1190A= (p.Asp397=) c.1346A= (p.Asp449=) c.1031A= (p.Asp344=) | |
6 | g.73600353C>A | CA364719927 | SLC17A5 | c.1348G>T (p.Asp450Tyr) c.1297G>T (p.Asp433Tyr) c.1150G>T (p.Asp384Tyr) c.*6G>T (n.*6G>T) c.1117G>T (p.Asp373Tyr) c.1260-5139G>T (n.1260-5139G>T) c.1369G>T (p.Asp457Tyr) c.1261G>T (p.Asp421Tyr) c.1189G>T (p.Asp397Tyr) c.1345G>T (p.Asp449Tyr) c.1030G>T (p.Asp344Tyr) | |
6 | g.73600353C= | CA1638223802 | SLC17A5 | c.1348G= (p.Asp450=) c.1297G= (p.Asp433=) c.1150G= (p.Asp384=) c.*6G= (n.*6G=) c.1117G= (p.Asp373=) c.1260-5139G= (n.1260-5139G=) c.1369G= (p.Asp457=) c.1261G= (p.Asp421=) c.1189G= (p.Asp397=) c.1345G= (p.Asp449=) c.1030G= (p.Asp344=) | |
6 | g.73600353C>G | CA364719928 | SLC17A5 | c.1348G>C (p.Asp450His) c.1297G>C (p.Asp433His) c.1150G>C (p.Asp384His) c.*6G>C (n.*6G>C) c.1117G>C (p.Asp373His) c.1260-5139G>C (n.1260-5139G>C) c.1369G>C (p.Asp457His) c.1261G>C (p.Asp421His) c.1189G>C (p.Asp397His) c.1345G>C (p.Asp449His) c.1030G>C (p.Asp344His) | gnomAD v4 |
6 | g.73600353C>T | CA364719929 | SLC17A5 | c.1348G>A (p.Asp450Asn) c.1297G>A (p.Asp433Asn) c.1150G>A (p.Asp384Asn) c.*6G>A (n.*6G>A) c.1117G>A (p.Asp373Asn) c.1260-5139G>A (n.1260-5139G>A) c.1369G>A (p.Asp457Asn) c.1261G>A (p.Asp421Asn) c.1189G>A (p.Asp397Asn) c.1345G>A (p.Asp449Asn) c.1030G>A (p.Asp344Asn) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73600354del | CA2679403313 | SLC17A5 | c.1347del (p.Asp450IlefsTer?) c.1296del (p.Asp433IlefsTer?) c.1149del (p.Asp384IlefsTer?) c.*5del (n.*5del) c.1116del (p.Asp373IlefsTer?) c.1260-5140del (n.1260-5140del) c.1368del (p.Asp457IlefsTer?) c.1260del (p.Asp421IlefsTer?) c.1347del (p.Asp450MetfsTer?) c.1188del (p.Asp397IlefsTer?) c.1344del (p.Asp449IlefsTer?) c.1029del (p.Asp344IlefsTer?) | gnomAD v4 |
6 | g.73600354A>C | CA450912526 | SLC17A5 | c.1347T>G (p.Pro449=) c.1296T>G (p.Pro432=) c.1149T>G (p.Pro383=) c.*5T>G (n.*5T>G) c.1116T>G (p.Pro372=) c.1260-5140T>G (n.1260-5140T>G) c.1368T>G (p.Pro456=) c.1260T>G (p.Pro420=) c.1188T>G (p.Pro396=) c.1344T>G (p.Pro448=) c.1029T>G (p.Pro343=) | |
6 | g.73600354A>G | CA450912528 | SLC17A5 | c.1347T>C (p.Pro449=) c.1296T>C (p.Pro432=) c.1149T>C (p.Pro383=) c.*5T>C (n.*5T>C) c.1116T>C (p.Pro372=) c.1260-5140T>C (n.1260-5140T>C) c.1368T>C (p.Pro456=) c.1260T>C (p.Pro420=) c.1188T>C (p.Pro396=) c.1344T>C (p.Pro448=) c.1029T>C (p.Pro343=) | gnomAD v4 |
6 | g.73600354A>T | CA450912529 | SLC17A5 | c.1347T>A (p.Pro449=) c.1296T>A (p.Pro432=) c.1149T>A (p.Pro383=) c.*5T>A (n.*5T>A) c.1116T>A (p.Pro372=) c.1260-5140T>A (n.1260-5140T>A) c.1368T>A (p.Pro456=) c.1260T>A (p.Pro420=) c.1188T>A (p.Pro396=) c.1344T>A (p.Pro448=) c.1029T>A (p.Pro343=) | |
6 | g.73600355G>A | CA364719930 | SLC17A5 | c.1346C>T (p.Pro449Leu) c.1295C>T (p.Pro432Leu) c.1148C>T (p.Pro383Leu) c.*4C>T (n.*4C>T) c.1115C>T (p.Pro372Leu) c.1260-5141C>T (n.1260-5141C>T) c.1367C>T (p.Pro456Leu) c.1259C>T (p.Pro420Leu) c.1187C>T (p.Pro396Leu) c.1343C>T (p.Pro448Leu) c.1028C>T (p.Pro343Leu) | |
6 | g.73600355G>C | CA364719931 | SLC17A5 | c.1346C>G (p.Pro449Arg) c.1295C>G (p.Pro432Arg) c.1148C>G (p.Pro383Arg) c.*4C>G (n.*4C>G) c.1115C>G (p.Pro372Arg) c.1260-5141C>G (n.1260-5141C>G) c.1367C>G (p.Pro456Arg) c.1259C>G (p.Pro420Arg) c.1187C>G (p.Pro396Arg) c.1343C>G (p.Pro448Arg) c.1028C>G (p.Pro343Arg) | |
6 | g.73600355G>T | CA364719932 | SLC17A5 | c.1346C>A (p.Pro449His) c.1295C>A (p.Pro432His) c.1148C>A (p.Pro383His) c.*4C>A (n.*4C>A) c.1115C>A (p.Pro372His) c.1260-5141C>A (n.1260-5141C>A) c.1367C>A (p.Pro456His) c.1259C>A (p.Pro420His) c.1187C>A (p.Pro396His) c.1343C>A (p.Pro448His) c.1028C>A (p.Pro343His) | |
6 | g.73600356G>A | CA364719935 | SLC17A5 | c.1345C>T (p.Pro449Ser) c.1294C>T (p.Pro432Ser) c.1147C>T (p.Pro383Ser) c.*3C>T (n.*3C>T) c.1114C>T (p.Pro372Ser) c.1260-5142C>T (n.1260-5142C>T) c.1366C>T (p.Pro456Ser) c.1258C>T (p.Pro420Ser) c.1186C>T (p.Pro396Ser) c.1342C>T (p.Pro448Ser) c.1027C>T (p.Pro343Ser) | COSMIC |
6 | g.73600356G>C | CA364719934 | SLC17A5 | c.1345C>G (p.Pro449Ala) c.1294C>G (p.Pro432Ala) c.1147C>G (p.Pro383Ala) c.*3C>G (n.*3C>G) c.1114C>G (p.Pro372Ala) c.1260-5142C>G (n.1260-5142C>G) c.1366C>G (p.Pro456Ala) c.1258C>G (p.Pro420Ala) c.1186C>G (p.Pro396Ala) c.1342C>G (p.Pro448Ala) c.1027C>G (p.Pro343Ala) | |
6 | g.73600356G>T | CA364719933 | SLC17A5 | c.1345C>A (p.Pro449Thr) c.1294C>A (p.Pro432Thr) c.1147C>A (p.Pro383Thr) c.*3C>A (n.*3C>A) c.1114C>A (p.Pro372Thr) c.1260-5142C>A (n.1260-5142C>A) c.1366C>A (p.Pro456Thr) c.1258C>A (p.Pro420Thr) c.1186C>A (p.Pro396Thr) c.1342C>A (p.Pro448Thr) c.1027C>A (p.Pro343Thr) | |
6 | g.73600357G>A | CA3890285 | SLC17A5 | c.1344C>T (p.Thr448=) c.1293C>T (p.Thr431=) c.1146C>T (p.Thr382=) c.*2C>T (n.*2C>T) c.1113C>T (p.Thr371=) c.1260-5143C>T (n.1260-5143C>T) c.1365C>T (p.Thr455=) c.1257C>T (p.Thr419=) c.1185C>T (p.Thr395=) c.1341C>T (p.Thr447=) c.1026C>T (p.Thr342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73600357G>C | CA450912536 | SLC17A5 | c.1344C>G (p.Thr448=) c.1293C>G (p.Thr431=) c.1146C>G (p.Thr382=) c.*2C>G (n.*2C>G) c.1113C>G (p.Thr371=) c.1260-5143C>G (n.1260-5143C>G) c.1365C>G (p.Thr455=) c.1257C>G (p.Thr419=) c.1185C>G (p.Thr395=) c.1341C>G (p.Thr447=) c.1026C>G (p.Thr342=) | |
6 | g.73600357G= | CA1638223804 | SLC17A5 | c.1344C= (p.Thr448=) c.1293C= (p.Thr431=) c.1146C= (p.Thr382=) c.*2C= (n.*2C=) c.1113C= (p.Thr371=) c.1260-5143C= (n.1260-5143C=) c.1365C= (p.Thr455=) c.1257C= (p.Thr419=) c.1185C= (p.Thr395=) c.1341C= (p.Thr447=) c.1026C= (p.Thr342=) | |
6 | g.73600357G>T | CA450912537 | SLC17A5 | c.1344C>A (p.Thr448=) c.1293C>A (p.Thr431=) c.1146C>A (p.Thr382=) c.*2C>A (n.*2C>A) c.1113C>A (p.Thr371=) c.1260-5143C>A (n.1260-5143C>A) c.1365C>A (p.Thr455=) c.1257C>A (p.Thr419=) c.1185C>A (p.Thr395=) c.1341C>A (p.Thr447=) c.1026C>A (p.Thr342=) | gnomAD v4 |
6 | g.73600358G>A | CA364719936 | SLC17A5 | c.1343C>T (p.Thr448Ile) c.1292C>T (p.Thr431Ile) c.1145C>T (p.Thr382Ile) c.*1C>T (n.*1C>T) c.1112C>T (p.Thr371Ile) c.1260-5144C>T (n.1260-5144C>T) c.1364C>T (p.Thr455Ile) c.1256C>T (p.Thr419Ile) c.1184C>T (p.Thr395Ile) c.1340C>T (p.Thr447Ile) c.1025C>T (p.Thr342Ile) | gnomAD v4 |
6 | g.73600358G>C | CA364719937 | SLC17A5 | c.1343C>G (p.Thr448Ser) c.1292C>G (p.Thr431Ser) c.1145C>G (p.Thr382Ser) c.*1C>G (n.*1C>G) c.1112C>G (p.Thr371Ser) c.1260-5144C>G (n.1260-5144C>G) c.1364C>G (p.Thr455Ser) c.1256C>G (p.Thr419Ser) c.1184C>G (p.Thr395Ser) c.1340C>G (p.Thr447Ser) c.1025C>G (p.Thr342Ser) | |
6 | g.73600358G= | CA1638223808 | SLC17A5 | c.1343C= (p.Thr448=) c.1292C= (p.Thr431=) c.1145C= (p.Thr382=) c.*1C= (n.*1C=) c.1112C= (p.Thr371=) c.1260-5144C= (n.1260-5144C=) c.1364C= (p.Thr455=) c.1256C= (p.Thr419=) c.1184C= (p.Thr395=) c.1340C= (p.Thr447=) c.1025C= (p.Thr342=) | |
6 | g.73600358G>T | CA364719938 | SLC17A5 | c.1343C>A (p.Thr448Asn) c.1292C>A (p.Thr431Asn) c.1145C>A (p.Thr382Asn) c.*1C>A (n.*1C>A) c.1112C>A (p.Thr371Asn) c.1260-5144C>A (n.1260-5144C>A) c.1364C>A (p.Thr455Asn) c.1256C>A (p.Thr419Asn) c.1184C>A (p.Thr395Asn) c.1340C>A (p.Thr447Asn) c.1025C>A (p.Thr342Asn) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73600359del | CA2679403314 | SLC17A5 | c.1342del (p.Thr448ProfsTer?) c.1291del (p.Thr431ProfsTer?) c.1144del (p.Thr382ProfsTer?) c.1194del (p.Ter398CysextTer3) c.1111del (p.Thr371ProfsTer?) c.1260-5145del (n.1260-5145del) c.1363del (p.Thr455ProfsTer?) c.1255del (p.Thr419ProfsTer?) c.1183del (p.Thr395ProfsTer?) c.1339del (p.Thr447ProfsTer?) c.1024del (p.Thr342ProfsTer?) | gnomAD v4 |
6 | g.73600359T>A | CA364719939 | SLC17A5 | c.1342A>T (p.Thr448Ser) c.1291A>T (p.Thr431Ser) c.1144A>T (p.Thr382Ser) c.1194A>T (p.Ter398Cys) c.1111A>T (p.Thr371Ser) c.1260-5145A>T (n.1260-5145A>T) c.1363A>T (p.Thr455Ser) c.1255A>T (p.Thr419Ser) c.1183A>T (p.Thr395Ser) c.1339A>T (p.Thr447Ser) c.1024A>T (p.Thr342Ser) | |
6 | g.73600359T>C | CA3890286 | SLC17A5 | c.1342A>G (p.Thr448Ala) c.1291A>G (p.Thr431Ala) c.1144A>G (p.Thr382Ala) c.1194A>G (p.Ter398Trp) c.1111A>G (p.Thr371Ala) c.1260-5145A>G (n.1260-5145A>G) c.1363A>G (p.Thr455Ala) c.1255A>G (p.Thr419Ala) c.1183A>G (p.Thr395Ala) c.1339A>G (p.Thr447Ala) c.1024A>G (p.Thr342Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.73600359T>G | CA364719940 | SLC17A5 | c.1342A>C (p.Thr448Pro) c.1291A>C (p.Thr431Pro) c.1144A>C (p.Thr382Pro) c.1194A>C (p.Ter398Cys) c.1111A>C (p.Thr371Pro) c.1260-5145A>C (n.1260-5145A>C) c.1363A>C (p.Thr455Pro) c.1255A>C (p.Thr419Pro) c.1183A>C (p.Thr395Pro) c.1339A>C (p.Thr447Pro) c.1024A>C (p.Thr342Pro) | |
6 | g.73600359T= | CA1638223811 | SLC17A5 | c.1342A= (p.Thr448=) c.1291A= (p.Thr431=) c.1144A= (p.Thr382=) c.1194A= (p.Ter398=) c.1111A= (p.Thr371=) c.1260-5145A= (n.1260-5145A=) c.1363A= (p.Thr455=) c.1255A= (p.Thr419=) c.1183A= (p.Thr395=) c.1339A= (p.Thr447=) c.1024A= (p.Thr342=) | |
6 | g.73600359_73600360delinsTC | CA1638223812 | SLC17A5 | c.1341_1342delinsGA (p.Leu447=) c.1290_1291delinsGA (p.Leu430=) c.1143_1144delinsGA (p.Leu381=) c.1193_1194delinsGA (p.Ter398=) c.1110_1111delinsGA (p.Leu370=) c.1260-5146_1260-5145delinsGA (n.1260-5146_1260-5145delinsGA) c.1362_1363delinsGA (p.Leu454=) c.1254_1255delinsGA (p.Leu418=) c.1182_1183delinsGA (p.Leu394=) c.1338_1339delinsGA (p.Leu446=) c.1023_1024delinsGA (p.Leu341=) | |
6 | g.73600360del | CA3890287 | SLC17A5 | c.1341del (p.Thr448ProfsTer?) c.1290del (p.Thr431ProfsTer?) c.1143del (p.Thr382ProfsTer?) c.1193del (p.Ter398TyrextTer3) c.1110del (p.Thr371ProfsTer?) c.1260-5146del (n.1260-5146del) c.1362del (p.Thr455ProfsTer?) c.1254del (p.Thr419ProfsTer?) c.1182del (p.Thr395ProfsTer?) c.1338del (p.Thr447ProfsTer?) c.1023del (p.Thr342ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600360C>A | CA450912546 | SLC17A5 | c.1341G>T (p.Leu447=) c.1290G>T (p.Leu430=) c.1143G>T (p.Leu381=) c.1193G>T (p.Ter398Leu) c.1110G>T (p.Leu370=) c.1260-5146G>T (n.1260-5146G>T) c.1362G>T (p.Leu454=) c.1254G>T (p.Leu418=) c.1182G>T (p.Leu394=) c.1338G>T (p.Leu446=) c.1023G>T (p.Leu341=) | |
6 | g.73600360C>G | CA450912548 | SLC17A5 | c.1341G>C (p.Leu447=) c.1290G>C (p.Leu430=) c.1143G>C (p.Leu381=) c.1193G>C (p.Ter398Ser) c.1110G>C (p.Leu370=) c.1260-5146G>C (n.1260-5146G>C) c.1362G>C (p.Leu454=) c.1254G>C (p.Leu418=) c.1182G>C (p.Leu394=) c.1338G>C (p.Leu446=) c.1023G>C (p.Leu341=) | |
6 | g.73600360C>T | CA450912550 | SLC17A5 | c.1341G>A (p.Leu447=) c.1290G>A (p.Leu430=) c.1143G>A (p.Leu381=) c.1193G>A (p.Ter398=) c.1110G>A (p.Leu370=) c.1260-5146G>A (n.1260-5146G>A) c.1362G>A (p.Leu454=) c.1254G>A (p.Leu418=) c.1182G>A (p.Leu394=) c.1338G>A (p.Leu446=) c.1023G>A (p.Leu341=) | |
6 | g.73600361A>C | CA364719941 | SLC17A5 | c.1340T>G (p.Leu447Arg) c.1289T>G (p.Leu430Arg) c.1142T>G (p.Leu381Arg) c.1192T>G (p.Ter398Gly) c.1109T>G (p.Leu370Arg) c.1260-5147T>G (n.1260-5147T>G) c.1361T>G (p.Leu454Arg) c.1253T>G (p.Leu418Arg) c.1181T>G (p.Leu394Arg) c.1337T>G (p.Leu446Arg) c.1022T>G (p.Leu341Arg) | |
6 | g.73600361A>G | CA364719942 | SLC17A5 | c.1340T>C (p.Leu447Pro) c.1289T>C (p.Leu430Pro) c.1142T>C (p.Leu381Pro) c.1192T>C (p.Ter398Arg) c.1109T>C (p.Leu370Pro) c.1260-5147T>C (n.1260-5147T>C) c.1361T>C (p.Leu454Pro) c.1253T>C (p.Leu418Pro) c.1181T>C (p.Leu394Pro) c.1337T>C (p.Leu446Pro) c.1022T>C (p.Leu341Pro) | |
6 | g.73600361A>T | CA364719943 | SLC17A5 | c.1340T>A (p.Leu447Gln) c.1289T>A (p.Leu430Gln) c.1142T>A (p.Leu381Gln) c.1192T>A (p.Ter398Arg) c.1109T>A (p.Leu370Gln) c.1260-5147T>A (n.1260-5147T>A) c.1361T>A (p.Leu454Gln) c.1253T>A (p.Leu418Gln) c.1181T>A (p.Leu394Gln) c.1337T>A (p.Leu446Gln) c.1022T>A (p.Leu341Gln) | |
6 | g.73600362G>A | CA450912555 | SLC17A5 | c.1339C>T (p.Leu447=) c.1288C>T (p.Leu430=) c.1141C>T (p.Leu381=) c.1191C>T (p.Val397=) c.1108C>T (p.Leu370=) c.1260-5148C>T (n.1260-5148C>T) c.1360C>T (p.Leu454=) c.1252C>T (p.Leu418=) c.1180C>T (p.Leu394=) c.1336C>T (p.Leu446=) c.1021C>T (p.Leu341=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600362G>C | CA364719944 | SLC17A5 | c.1339C>G (p.Leu447Val) c.1288C>G (p.Leu430Val) c.1141C>G (p.Leu381Val) c.1191C>G (p.Val397=) c.1108C>G (p.Leu370Val) c.1260-5148C>G (n.1260-5148C>G) c.1360C>G (p.Leu454Val) c.1252C>G (p.Leu418Val) c.1180C>G (p.Leu394Val) c.1336C>G (p.Leu446Val) c.1021C>G (p.Leu341Val) | |
6 | g.73600362G= | CA1638223815 | SLC17A5 | c.1339C= (p.Leu447=) c.1288C= (p.Leu430=) c.1141C= (p.Leu381=) c.1191C= (p.Val397=) c.1108C= (p.Leu370=) c.1260-5148C= (n.1260-5148C=) c.1360C= (p.Leu454=) c.1252C= (p.Leu418=) c.1180C= (p.Leu394=) c.1336C= (p.Leu446=) c.1021C= (p.Leu341=) | |
6 | g.73600362G>T | CA364719945 | SLC17A5 | c.1339C>A (p.Leu447Met) c.1288C>A (p.Leu430Met) c.1141C>A (p.Leu381Met) c.1191C>A (p.Val397=) c.1108C>A (p.Leu370Met) c.1260-5148C>A (n.1260-5148C>A) c.1360C>A (p.Leu454Met) c.1252C>A (p.Leu418Met) c.1180C>A (p.Leu394Met) c.1336C>A (p.Leu446Met) c.1021C>A (p.Leu341Met) | |
6 | g.73600363A>C | CA364719946 | SLC17A5 | c.1338T>G (p.Ser446Arg) c.1287T>G (p.Ser429Arg) c.1140T>G (p.Ser380Arg) c.1190T>G (p.Val397Gly) c.1107T>G (p.Ser369Arg) c.1260-5149T>G (n.1260-5149T>G) c.1359T>G (p.Ser453Arg) c.1251T>G (p.Ser417Arg) c.1179T>G (p.Ser393Arg) c.1335T>G (p.Ser445Arg) c.1020T>G (p.Ser340Arg) | |
6 | g.73600363A>G | CA450912559 | SLC17A5 | c.1338T>C (p.Ser446=) c.1287T>C (p.Ser429=) c.1140T>C (p.Ser380=) c.1190T>C (p.Val397Ala) c.1107T>C (p.Ser369=) c.1260-5149T>C (n.1260-5149T>C) c.1359T>C (p.Ser453=) c.1251T>C (p.Ser417=) c.1179T>C (p.Ser393=) c.1335T>C (p.Ser445=) c.1020T>C (p.Ser340=) | |
6 | g.73600363A>T | CA364719947 | SLC17A5 | c.1338T>A (p.Ser446Arg) c.1287T>A (p.Ser429Arg) c.1140T>A (p.Ser380Arg) c.1190T>A (p.Val397Asp) c.1107T>A (p.Ser369Arg) c.1260-5149T>A (n.1260-5149T>A) c.1359T>A (p.Ser453Arg) c.1251T>A (p.Ser417Arg) c.1179T>A (p.Ser393Arg) c.1335T>A (p.Ser445Arg) c.1020T>A (p.Ser340Arg) | |
6 | g.73600364C>A | CA364719948 | SLC17A5 | c.1337G>T (p.Ser446Ile) c.1286G>T (p.Ser429Ile) c.1139G>T (p.Ser380Ile) c.1189G>T (p.Val397Phe) c.1106G>T (p.Ser369Ile) c.1260-5150G>T (n.1260-5150G>T) c.1358G>T (p.Ser453Ile) c.1250G>T (p.Ser417Ile) c.1178G>T (p.Ser393Ile) c.1334G>T (p.Ser445Ile) c.1019G>T (p.Ser340Ile) | |
6 | g.73600364C>G | CA364719949 | SLC17A5 | c.1337G>C (p.Ser446Thr) c.1286G>C (p.Ser429Thr) c.1139G>C (p.Ser380Thr) c.1189G>C (p.Val397Leu) c.1106G>C (p.Ser369Thr) c.1260-5150G>C (n.1260-5150G>C) c.1358G>C (p.Ser453Thr) c.1250G>C (p.Ser417Thr) c.1178G>C (p.Ser393Thr) c.1334G>C (p.Ser445Thr) c.1019G>C (p.Ser340Thr) | |
6 | g.73600364C>T | CA364719950 | SLC17A5 | c.1337G>A (p.Ser446Asn) c.1286G>A (p.Ser429Asn) c.1139G>A (p.Ser380Asn) c.1189G>A (p.Val397Ile) c.1106G>A (p.Ser369Asn) c.1260-5150G>A (n.1260-5150G>A) c.1358G>A (p.Ser453Asn) c.1250G>A (p.Ser417Asn) c.1178G>A (p.Ser393Asn) c.1334G>A (p.Ser445Asn) c.1019G>A (p.Ser340Asn) | |
6 | g.73600364_73600365delinsCT | CA1638223818 | SLC17A5 | c.1336_1337delinsAG (p.Ser446=) c.1285_1286delinsAG (p.Ser429=) c.1138_1139delinsAG (p.Ser380=) c.1188_1189delinsAG (p.Lys396=) c.1105_1106delinsAG (p.Ser369=) c.1260-5151_1260-5150delinsAG (n.1260-5151_1260-5150delinsAG) c.1357_1358delinsAG (p.Ser453=) c.1249_1250delinsAG (p.Ser417=) c.1177_1178delinsAG (p.Ser393=) c.1333_1334delinsAG (p.Ser445=) c.1018_1019delinsAG (p.Ser340=) | |
6 | g.73600365T>A | CA364719951 | SLC17A5 | c.1336A>T (p.Ser446Cys) c.1285A>T (p.Ser429Cys) c.1138A>T (p.Ser380Cys) c.1188A>T (p.Lys396Asn) c.1105A>T (p.Ser369Cys) c.1260-5151A>T (n.1260-5151A>T) c.1357A>T (p.Ser453Cys) c.1249A>T (p.Ser417Cys) c.1177A>T (p.Ser393Cys) c.1333A>T (p.Ser445Cys) c.1018A>T (p.Ser340Cys) | |
6 | g.73600365T>C | CA364719952 | SLC17A5 | c.1336A>G (p.Ser446Gly) c.1285A>G (p.Ser429Gly) c.1138A>G (p.Ser380Gly) c.1188A>G (p.Lys396=) c.1105A>G (p.Ser369Gly) c.1260-5151A>G (n.1260-5151A>G) c.1357A>G (p.Ser453Gly) c.1249A>G (p.Ser417Gly) c.1177A>G (p.Ser393Gly) c.1333A>G (p.Ser445Gly) c.1018A>G (p.Ser340Gly) | |
6 | g.73600365T>G | CA364719953 | SLC17A5 | c.1336A>C (p.Ser446Arg) c.1285A>C (p.Ser429Arg) c.1138A>C (p.Ser380Arg) c.1188A>C (p.Lys396Asn) c.1105A>C (p.Ser369Arg) c.1260-5151A>C (n.1260-5151A>C) c.1357A>C (p.Ser453Arg) c.1249A>C (p.Ser417Arg) c.1177A>C (p.Ser393Arg) c.1333A>C (p.Ser445Arg) c.1018A>C (p.Ser340Arg) | |
6 | g.73600368del | CA140972068 | SLC17A5 | c.1336del (p.Ser446ValfsTer2) c.1285del (p.Ser429ValfsTer2) c.1138del (p.Ser380ValfsTer2) c.1188del (p.Val397SerfsTer4) c.1105del (p.Ser369ValfsTer2) c.1260-5151del (n.1260-5151del) c.1357del (p.Ser453ValfsTer2) c.1249del (p.Ser417ValfsTer2) c.1177del (p.Ser393ValfsTer2) c.1333del (p.Ser445ValfsTer2) c.1018del (p.Ser340ValfsTer2) | dbSNP |
6 | g.73600366T>A | CA364719954 | SLC17A5 | c.1335A>T (p.Lys445Asn) c.1284A>T (p.Lys428Asn) c.1137A>T (p.Lys379Asn) c.1187A>T (p.Lys396Ile) c.1104A>T (p.Lys368Asn) c.1260-5152A>T (n.1260-5152A>T) c.1356A>T (p.Lys452Asn) c.1248A>T (p.Lys416Asn) c.1176A>T (p.Lys392Asn) c.1332A>T (p.Lys444Asn) c.1017A>T (p.Lys339Asn) | |
6 | g.73600366T>C | CA450912564 | SLC17A5 | c.1335A>G (p.Lys445=) c.1284A>G (p.Lys428=) c.1137A>G (p.Lys379=) c.1187A>G (p.Lys396Arg) c.1104A>G (p.Lys368=) c.1260-5152A>G (n.1260-5152A>G) c.1356A>G (p.Lys452=) c.1248A>G (p.Lys416=) c.1176A>G (p.Lys392=) c.1332A>G (p.Lys444=) c.1017A>G (p.Lys339=) | |
6 | g.73600366T>G | CA364719955 | SLC17A5 | c.1335A>C (p.Lys445Asn) c.1284A>C (p.Lys428Asn) c.1137A>C (p.Lys379Asn) c.1187A>C (p.Lys396Thr) c.1104A>C (p.Lys368Asn) c.1260-5152A>C (n.1260-5152A>C) c.1356A>C (p.Lys452Asn) c.1248A>C (p.Lys416Asn) c.1176A>C (p.Lys392Asn) c.1332A>C (p.Lys444Asn) c.1017A>C (p.Lys339Asn) | |
6 | g.73600367T>A | CA364719956 | SLC17A5 | c.1334A>T (p.Lys445Ile) c.1283A>T (p.Lys428Ile) c.1136A>T (p.Lys379Ile) c.1186A>T (p.Lys396Ter) c.1103A>T (p.Lys368Ile) c.1260-5153A>T (n.1260-5153A>T) c.1355A>T (p.Lys452Ile) c.1247A>T (p.Lys416Ile) c.1175A>T (p.Lys392Ile) c.1331A>T (p.Lys444Ile) c.1016A>T (p.Lys339Ile) | |
6 | g.73600367T>C | CA364719957 | SLC17A5 | c.1334A>G (p.Lys445Arg) c.1283A>G (p.Lys428Arg) c.1136A>G (p.Lys379Arg) c.1186A>G (p.Lys396Glu) c.1103A>G (p.Lys368Arg) c.1260-5153A>G (n.1260-5153A>G) c.1355A>G (p.Lys452Arg) c.1247A>G (p.Lys416Arg) c.1175A>G (p.Lys392Arg) c.1331A>G (p.Lys444Arg) c.1016A>G (p.Lys339Arg) | |
6 | g.73600367T>G | CA364719958 | SLC17A5 | c.1334A>C (p.Lys445Thr) c.1283A>C (p.Lys428Thr) c.1136A>C (p.Lys379Thr) c.1186A>C (p.Lys396Gln) c.1103A>C (p.Lys368Thr) c.1260-5153A>C (n.1260-5153A>C) c.1355A>C (p.Lys452Thr) c.1247A>C (p.Lys416Thr) c.1175A>C (p.Lys392Thr) c.1331A>C (p.Lys444Thr) c.1016A>C (p.Lys339Thr) | |
6 | g.73600368T>A | CA364719960 | SLC17A5 | c.1333A>T (p.Lys445Ter) c.1282A>T (p.Lys428Ter) c.1135A>T (p.Lys379Ter) c.1185A>T (p.Leu395=) c.1102A>T (p.Lys368Ter) c.1260-5154A>T (n.1260-5154A>T) c.1354A>T (p.Lys452Ter) c.1246A>T (p.Lys416Ter) c.1174A>T (p.Lys392Ter) c.1330A>T (p.Lys444Ter) c.1015A>T (p.Lys339Ter) | |
6 | g.73600368T>C | CA3890288 | SLC17A5 | c.1333A>G (p.Lys445Glu) c.1282A>G (p.Lys428Glu) c.1135A>G (p.Lys379Glu) c.1185A>G (p.Leu395=) c.1102A>G (p.Lys368Glu) c.1260-5154A>G (n.1260-5154A>G) c.1354A>G (p.Lys452Glu) c.1246A>G (p.Lys416Glu) c.1174A>G (p.Lys392Glu) c.1330A>G (p.Lys444Glu) c.1015A>G (p.Lys339Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73600368T>G | CA364719959 | SLC17A5 | c.1333A>C (p.Lys445Gln) c.1282A>C (p.Lys428Gln) c.1135A>C (p.Lys379Gln) c.1185A>C (p.Leu395=) c.1102A>C (p.Lys368Gln) c.1260-5154A>C (n.1260-5154A>C) c.1354A>C (p.Lys452Gln) c.1246A>C (p.Lys416Gln) c.1174A>C (p.Lys392Gln) c.1330A>C (p.Lys444Gln) c.1015A>C (p.Lys339Gln) | |
6 | g.73600368T= | CA1638223822 | SLC17A5 | c.1333A= (p.Lys445=) c.1282A= (p.Lys428=) c.1135A= (p.Lys379=) c.1185A= (p.Leu395=) c.1102A= (p.Lys368=) c.1260-5154A= (n.1260-5154A=) c.1354A= (p.Lys452=) c.1246A= (p.Lys416=) c.1174A= (p.Lys392=) c.1330A= (p.Lys444=) c.1015A= (p.Lys339=) | |
6 | g.73600369A>C | CA450912571 | SLC17A5 | c.1332T>G (p.Ala444=) c.1281T>G (p.Ala427=) c.1134T>G (p.Ala378=) c.1184T>G (p.Leu395Arg) c.1101T>G (p.Ala367=) c.1260-5155T>G (n.1260-5155T>G) c.1353T>G (p.Ala451=) c.1245T>G (p.Ala415=) c.1173T>G (p.Ala391=) c.1329T>G (p.Ala443=) c.1014T>G (p.Ala338=) | |
6 | g.73600369A>G | CA450912573 | SLC17A5 | c.1332T>C (p.Ala444=) c.1281T>C (p.Ala427=) c.1134T>C (p.Ala378=) c.1184T>C (p.Leu395Pro) c.1101T>C (p.Ala367=) c.1260-5155T>C (n.1260-5155T>C) c.1353T>C (p.Ala451=) c.1245T>C (p.Ala415=) c.1173T>C (p.Ala391=) c.1329T>C (p.Ala443=) c.1014T>C (p.Ala338=) | |
6 | g.73600369A>T | CA450912574 | SLC17A5 | c.1332T>A (p.Ala444=) c.1281T>A (p.Ala427=) c.1134T>A (p.Ala378=) c.1184T>A (p.Leu395Gln) c.1101T>A (p.Ala367=) c.1260-5155T>A (n.1260-5155T>A) c.1353T>A (p.Ala451=) c.1245T>A (p.Ala415=) c.1173T>A (p.Ala391=) c.1329T>A (p.Ala443=) c.1014T>A (p.Ala338=) | |
6 | g.73600370G>A | CA364719961 | SLC17A5 | c.1331C>T (p.Ala444Val) c.1280C>T (p.Ala427Val) c.1133C>T (p.Ala378Val) c.1183C>T (p.Leu395=) c.1100C>T (p.Ala367Val) c.1260-5156C>T (n.1260-5156C>T) c.1352C>T (p.Ala451Val) c.1244C>T (p.Ala415Val) c.1172C>T (p.Ala391Val) c.1328C>T (p.Ala443Val) c.1013C>T (p.Ala338Val) | |
6 | g.73600370G>C | CA364719962 | SLC17A5 | c.1331C>G (p.Ala444Gly) c.1280C>G (p.Ala427Gly) c.1133C>G (p.Ala378Gly) c.1183C>G (p.Leu395Val) c.1100C>G (p.Ala367Gly) c.1260-5156C>G (n.1260-5156C>G) c.1352C>G (p.Ala451Gly) c.1244C>G (p.Ala415Gly) c.1172C>G (p.Ala391Gly) c.1328C>G (p.Ala443Gly) c.1013C>G (p.Ala338Gly) | |
6 | g.73600370G= | CA1638223825 | SLC17A5 | c.1331C= (p.Ala444=) c.1280C= (p.Ala427=) c.1133C= (p.Ala378=) c.1183C= (p.Leu395=) c.1100C= (p.Ala367=) c.1260-5156C= (n.1260-5156C=) c.1352C= (p.Ala451=) c.1244C= (p.Ala415=) c.1172C= (p.Ala391=) c.1328C= (p.Ala443=) c.1013C= (p.Ala338=) | |
6 | g.73600370G>T | CA364719963 | SLC17A5 | c.1331C>A (p.Ala444Asp) c.1280C>A (p.Ala427Asp) c.1133C>A (p.Ala378Asp) c.1183C>A (p.Leu395Ile) c.1100C>A (p.Ala367Asp) c.1260-5156C>A (n.1260-5156C>A) c.1352C>A (p.Ala451Asp) c.1244C>A (p.Ala415Asp) c.1172C>A (p.Ala391Asp) c.1328C>A (p.Ala443Asp) c.1013C>A (p.Ala338Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73600371C>A | CA364719964 | SLC17A5 | c.1330G>T (p.Ala444Ser) c.1279G>T (p.Ala427Ser) c.1132G>T (p.Ala378Ser) c.1182G>T (p.Leu394Phe) c.1099G>T (p.Ala367Ser) c.1260-5157G>T (n.1260-5157G>T) c.1351G>T (p.Ala451Ser) c.1243G>T (p.Ala415Ser) c.1171G>T (p.Ala391Ser) c.1327G>T (p.Ala443Ser) c.1012G>T (p.Ala338Ser) | |
6 | g.73600371C>G | CA364719965 | SLC17A5 | c.1330G>C (p.Ala444Pro) c.1279G>C (p.Ala427Pro) c.1132G>C (p.Ala378Pro) c.1182G>C (p.Leu394Phe) c.1099G>C (p.Ala367Pro) c.1260-5157G>C (n.1260-5157G>C) c.1351G>C (p.Ala451Pro) c.1243G>C (p.Ala415Pro) c.1171G>C (p.Ala391Pro) c.1327G>C (p.Ala443Pro) c.1012G>C (p.Ala338Pro) | |
6 | g.73600371C>T | CA364719966 | SLC17A5 | c.1330G>A (p.Ala444Thr) c.1279G>A (p.Ala427Thr) c.1132G>A (p.Ala378Thr) c.1182G>A (p.Leu394=) c.1099G>A (p.Ala367Thr) c.1260-5157G>A (n.1260-5157G>A) c.1351G>A (p.Ala451Thr) c.1243G>A (p.Ala415Thr) c.1171G>A (p.Ala391Thr) c.1327G>A (p.Ala443Thr) c.1012G>A (p.Ala338Thr) | |
6 | g.73600372A>C | CA364719967 | SLC17A5 | c.1329T>G (p.Ile443Met) c.1278T>G (p.Ile426Met) c.1131T>G (p.Ile377Met) c.1181T>G (p.Leu394Trp) c.1098T>G (p.Ile366Met) c.1260-5158T>G (n.1260-5158T>G) c.1350T>G (p.Ile450Met) c.1242T>G (p.Ile414Met) c.1170T>G (p.Ile390Met) c.1326T>G (p.Ile442Met) c.1011T>G (p.Ile337Met) | |
6 | g.73600372A>G | CA450912582 | SLC17A5 | c.1329T>C (p.Ile443=) c.1278T>C (p.Ile426=) c.1131T>C (p.Ile377=) c.1181T>C (p.Leu394Ser) c.1098T>C (p.Ile366=) c.1260-5158T>C (n.1260-5158T>C) c.1350T>C (p.Ile450=) c.1242T>C (p.Ile414=) c.1170T>C (p.Ile390=) c.1326T>C (p.Ile442=) c.1011T>C (p.Ile337=) | |
6 | g.73600372A>T | CA450912583 | SLC17A5 | c.1329T>A (p.Ile443=) c.1278T>A (p.Ile426=) c.1131T>A (p.Ile377=) c.1181T>A (p.Leu394Ter) c.1098T>A (p.Ile366=) c.1260-5158T>A (n.1260-5158T>A) c.1350T>A (p.Ile450=) c.1242T>A (p.Ile414=) c.1170T>A (p.Ile390=) c.1326T>A (p.Ile442=) c.1011T>A (p.Ile337=) | |
6 | g.73600373dup | CA913111550 | SLC17A5 | c.1329dup (p.Ala444CysfsTer2) c.1278dup (p.Ala427CysfsTer2) c.1131dup (p.Ala378CysfsTer2) c.1181dup (p.Leu394PhefsTer?) c.1098dup (p.Ala367CysfsTer2) c.1260-5158dup (n.1260-5158dup) c.1350dup (p.Ala451CysfsTer2) c.1242dup (p.Ala415CysfsTer2) c.1170dup (p.Ala391CysfsTer2) c.1326dup (p.Ala443CysfsTer2) c.1011dup (p.Ala338CysfsTer2) | |
6 | g.73600373A= | CA1638223827 | SLC17A5 | c.1328T= (p.Ile443=) c.1277T= (p.Ile426=) c.1130T= (p.Ile377=) c.1180T= (p.Leu394=) c.1097T= (p.Ile366=) c.1260-5159T= (n.1260-5159T=) c.1349T= (p.Ile450=) c.1241T= (p.Ile414=) c.1169T= (p.Ile390=) c.1325T= (p.Ile442=) c.1010T= (p.Ile337=) | |
6 | g.73600373A>C | CA364719968 | SLC17A5 | c.1328T>G (p.Ile443Ser) c.1277T>G (p.Ile426Ser) c.1130T>G (p.Ile377Ser) c.1180T>G (p.Leu394Val) c.1097T>G (p.Ile366Ser) c.1260-5159T>G (n.1260-5159T>G) c.1349T>G (p.Ile450Ser) c.1241T>G (p.Ile414Ser) c.1169T>G (p.Ile390Ser) c.1325T>G (p.Ile442Ser) c.1010T>G (p.Ile337Ser) | |
6 | g.73600373A>G | CA364719969 | SLC17A5 | c.1328T>C (p.Ile443Thr) c.1277T>C (p.Ile426Thr) c.1130T>C (p.Ile377Thr) c.1180T>C (p.Leu394=) c.1097T>C (p.Ile366Thr) c.1260-5159T>C (n.1260-5159T>C) c.1349T>C (p.Ile450Thr) c.1241T>C (p.Ile414Thr) c.1169T>C (p.Ile390Thr) c.1325T>C (p.Ile442Thr) c.1010T>C (p.Ile337Thr) | gnomAD v4 |
6 | g.73600373A>T | CA364719970 | SLC17A5 | c.1328T>A (p.Ile443Asn) c.1277T>A (p.Ile426Asn) c.1130T>A (p.Ile377Asn) c.1180T>A (p.Leu394Met) c.1097T>A (p.Ile366Asn) c.1260-5159T>A (n.1260-5159T>A) c.1349T>A (p.Ile450Asn) c.1241T>A (p.Ile414Asn) c.1169T>A (p.Ile390Asn) c.1325T>A (p.Ile442Asn) c.1010T>A (p.Ile337Asn) | |
6 | g.73600374T>A | CA364719971 | SLC17A5 | c.1327A>T (p.Ile443Phe) c.1276A>T (p.Ile426Phe) c.1129A>T (p.Ile377Phe) c.1179A>T (p.Ser393=) c.1096A>T (p.Ile366Phe) c.1260-5160A>T (n.1260-5160A>T) c.1348A>T (p.Ile450Phe) c.1240A>T (p.Ile414Phe) c.1168A>T (p.Ile390Phe) c.1324A>T (p.Ile442Phe) c.1009A>T (p.Ile337Phe) | |
6 | g.73600374T>C | CA364719972 | SLC17A5 | c.1327A>G (p.Ile443Val) c.1276A>G (p.Ile426Val) c.1129A>G (p.Ile377Val) c.1179A>G (p.Ser393=) c.1096A>G (p.Ile366Val) c.1260-5160A>G (n.1260-5160A>G) c.1348A>G (p.Ile450Val) c.1240A>G (p.Ile414Val) c.1168A>G (p.Ile390Val) c.1324A>G (p.Ile442Val) c.1009A>G (p.Ile337Val) | |
6 | g.73600374T>G | CA364719973 | SLC17A5 | c.1327A>C (p.Ile443Leu) c.1276A>C (p.Ile426Leu) c.1129A>C (p.Ile377Leu) c.1179A>C (p.Ser393=) c.1096A>C (p.Ile366Leu) c.1260-5160A>C (n.1260-5160A>C) c.1348A>C (p.Ile450Leu) c.1240A>C (p.Ile414Leu) c.1168A>C (p.Ile390Leu) c.1324A>C (p.Ile442Leu) c.1009A>C (p.Ile337Leu) | |
6 | g.73600374dup | CA658821770 | SLC17A5 | c.1327dup (p.Ile443AsnfsTer3) c.1276dup (p.Ile426AsnfsTer3) c.1129dup (p.Ile377AsnfsTer3) c.1179dup (p.Leu394IlefsTer?) c.1096dup (p.Ile366AsnfsTer3) c.1260-5160dup (n.1260-5160dup) c.1348dup (p.Ile450AsnfsTer3) c.1240dup (p.Ile414AsnfsTer3) c.1168dup (p.Ile390AsnfsTer3) c.1324dup (p.Ile442AsnfsTer3) c.1009dup (p.Ile337AsnfsTer3) | ClinVar dbSNP |
6 | g.73600375G>A | CA450912590 | SLC17A5 | c.1326C>T (p.Val442=) c.1275C>T (p.Val425=) c.1128C>T (p.Val376=) c.1178C>T (p.Ser393Leu) c.1095C>T (p.Val365=) c.1260-5161C>T (n.1260-5161C>T) c.1347C>T (p.Val449=) c.1239C>T (p.Val413=) c.1167C>T (p.Val389=) c.1323C>T (p.Val441=) c.1008C>T (p.Val336=) | ClinVar |
6 | g.73600375G>C | CA450912591 | SLC17A5 | c.1326C>G (p.Val442=) c.1275C>G (p.Val425=) c.1128C>G (p.Val376=) c.1178C>G (p.Ser393Ter) c.1095C>G (p.Val365=) c.1260-5161C>G (n.1260-5161C>G) c.1347C>G (p.Val449=) c.1239C>G (p.Val413=) c.1167C>G (p.Val389=) c.1323C>G (p.Val441=) c.1008C>G (p.Val336=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73600375G= | CA1638223838 | SLC17A5 | c.1326C= (p.Val442=) c.1275C= (p.Val425=) c.1128C= (p.Val376=) c.1178C= (p.Ser393=) c.1095C= (p.Val365=) c.1260-5161C= (n.1260-5161C=) c.1347C= (p.Val449=) c.1239C= (p.Val413=) c.1167C= (p.Val389=) c.1323C= (p.Val441=) c.1008C= (p.Val336=) | |
6 | g.73600375G>T | CA450912593 | SLC17A5 | c.1326C>A (p.Val442=) c.1275C>A (p.Val425=) c.1128C>A (p.Val376=) c.1178C>A (p.Ser393Ter) c.1095C>A (p.Val365=) c.1260-5161C>A (n.1260-5161C>A) c.1347C>A (p.Val449=) c.1239C>A (p.Val413=) c.1167C>A (p.Val389=) c.1323C>A (p.Val441=) c.1008C>A (p.Val336=) | |
6 | g.73600376A= | CA1638223844 | SLC17A5 | c.1325T= (p.Val442=) c.1274T= (p.Val425=) c.1127T= (p.Val376=) c.1177T= (p.Ser393=) c.1094T= (p.Val365=) c.1260-5162T= (n.1260-5162T=) c.1346T= (p.Val449=) c.1238T= (p.Val413=) c.1166T= (p.Val389=) c.1322T= (p.Val441=) c.1007T= (p.Val336=) | |
6 | g.73600376A>C | CA364719975 | SLC17A5 | c.1325T>G (p.Val442Gly) c.1274T>G (p.Val425Gly) c.1127T>G (p.Val376Gly) c.1177T>G (p.Ser393Ala) c.1094T>G (p.Val365Gly) c.1260-5162T>G (n.1260-5162T>G) c.1346T>G (p.Val449Gly) c.1238T>G (p.Val413Gly) c.1166T>G (p.Val389Gly) c.1322T>G (p.Val441Gly) c.1007T>G (p.Val336Gly) | |
6 | g.73600376A>G | CA3890289 | SLC17A5 | c.1325T>C (p.Val442Ala) c.1274T>C (p.Val425Ala) c.1127T>C (p.Val376Ala) c.1177T>C (p.Ser393Pro) c.1094T>C (p.Val365Ala) c.1260-5162T>C (n.1260-5162T>C) c.1346T>C (p.Val449Ala) c.1238T>C (p.Val413Ala) c.1166T>C (p.Val389Ala) c.1322T>C (p.Val441Ala) c.1007T>C (p.Val336Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73600376A>T | CA364719974 | SLC17A5 | c.1325T>A (p.Val442Asp) c.1274T>A (p.Val425Asp) c.1127T>A (p.Val376Asp) c.1177T>A (p.Ser393Thr) c.1094T>A (p.Val365Asp) c.1260-5162T>A (n.1260-5162T>A) c.1346T>A (p.Val449Asp) c.1238T>A (p.Val413Asp) c.1166T>A (p.Val389Asp) c.1322T>A (p.Val441Asp) c.1007T>A (p.Val336Asp) | |
6 | g.73600377C>A | CA364719977 | SLC17A5 | c.1324G>T (p.Val442Phe) c.1273G>T (p.Val425Phe) c.1126G>T (p.Val376Phe) c.1176G>T (p.Pro392=) c.1093G>T (p.Val365Phe) c.1260-5163G>T (n.1260-5163G>T) c.1345G>T (p.Val449Phe) c.1237G>T (p.Val413Phe) c.1165G>T (p.Val389Phe) c.1321G>T (p.Val441Phe) c.1006G>T (p.Val336Phe) | |
6 | g.73600377C= | CA1638223851 | SLC17A5 | c.1324G= (p.Val442=) c.1273G= (p.Val425=) c.1126G= (p.Val376=) c.1176G= (p.Pro392=) c.1093G= (p.Val365=) c.1260-5163G= (n.1260-5163G=) c.1345G= (p.Val449=) c.1237G= (p.Val413=) c.1165G= (p.Val389=) c.1321G= (p.Val441=) c.1006G= (p.Val336=) | |
6 | g.73600377C>G | CA364719976 | SLC17A5 | c.1324G>C (p.Val442Leu) c.1273G>C (p.Val425Leu) c.1126G>C (p.Val376Leu) c.1176G>C (p.Pro392=) c.1093G>C (p.Val365Leu) c.1260-5163G>C (n.1260-5163G>C) c.1345G>C (p.Val449Leu) c.1237G>C (p.Val413Leu) c.1165G>C (p.Val389Leu) c.1321G>C (p.Val441Leu) c.1006G>C (p.Val336Leu) | |
6 | g.73600377C>T | CA3890290 | SLC17A5 | c.1324G>A (p.Val442Ile) c.1273G>A (p.Val425Ile) c.1126G>A (p.Val376Ile) c.1176G>A (p.Pro392=) c.1093G>A (p.Val365Ile) c.1260-5163G>A (n.1260-5163G>A) c.1345G>A (p.Val449Ile) c.1237G>A (p.Val413Ile) c.1165G>A (p.Val389Ile) c.1321G>A (p.Val441Ile) c.1006G>A (p.Val336Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600378G>A | CA140972088 | SLC17A5 | c.1323C>T (p.Pro441=) c.1272C>T (p.Pro424=) c.1125C>T (p.Pro375=) c.1175C>T (p.Pro392Leu) c.1092C>T (p.Pro364=) c.1260-5164C>T (n.1260-5164C>T) c.1344C>T (p.Pro448=) c.1236C>T (p.Pro412=) c.1164C>T (p.Pro388=) c.1320C>T (p.Pro440=) c.1005C>T (p.Pro335=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.73600378G>C | CA450912598 | SLC17A5 | c.1323C>G (p.Pro441=) c.1272C>G (p.Pro424=) c.1125C>G (p.Pro375=) c.1175C>G (p.Pro392Arg) c.1092C>G (p.Pro364=) c.1260-5164C>G (n.1260-5164C>G) c.1344C>G (p.Pro448=) c.1236C>G (p.Pro412=) c.1164C>G (p.Pro388=) c.1320C>G (p.Pro440=) c.1005C>G (p.Pro335=) | gnomAD v4 |
6 | g.73600378G= | CA1638223856 | SLC17A5 | c.1323C= (p.Pro441=) c.1272C= (p.Pro424=) c.1125C= (p.Pro375=) c.1175C= (p.Pro392=) c.1092C= (p.Pro364=) c.1260-5164C= (n.1260-5164C=) c.1344C= (p.Pro448=) c.1236C= (p.Pro412=) c.1164C= (p.Pro388=) c.1320C= (p.Pro440=) c.1005C= (p.Pro335=) | |
6 | g.73600378G>T | CA450912600 | SLC17A5 | c.1323C>A (p.Pro441=) c.1272C>A (p.Pro424=) c.1125C>A (p.Pro375=) c.1175C>A (p.Pro392Gln) c.1092C>A (p.Pro364=) c.1260-5164C>A (n.1260-5164C>A) c.1344C>A (p.Pro448=) c.1236C>A (p.Pro412=) c.1164C>A (p.Pro388=) c.1320C>A (p.Pro440=) c.1005C>A (p.Pro335=) | |
6 | g.73600379G>A | CA364719978 | SLC17A5 | c.1322C>T (p.Pro441Leu) c.1271C>T (p.Pro424Leu) c.1124C>T (p.Pro375Leu) c.1174C>T (p.Pro392Ser) c.1091C>T (p.Pro364Leu) c.1260-5165C>T (n.1260-5165C>T) c.1343C>T (p.Pro448Leu) c.1235C>T (p.Pro412Leu) c.1163C>T (p.Pro388Leu) c.1319C>T (p.Pro440Leu) c.1004C>T (p.Pro335Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600379G>C | CA364719979 | SLC17A5 | c.1322C>G (p.Pro441Arg) c.1271C>G (p.Pro424Arg) c.1124C>G (p.Pro375Arg) c.1174C>G (p.Pro392Ala) c.1091C>G (p.Pro364Arg) c.1260-5165C>G (n.1260-5165C>G) c.1343C>G (p.Pro448Arg) c.1235C>G (p.Pro412Arg) c.1163C>G (p.Pro388Arg) c.1319C>G (p.Pro440Arg) c.1004C>G (p.Pro335Arg) | |
6 | g.73600379G= | CA1638223859 | SLC17A5 | c.1322C= (p.Pro441=) c.1271C= (p.Pro424=) c.1124C= (p.Pro375=) c.1174C= (p.Pro392=) c.1091C= (p.Pro364=) c.1260-5165C= (n.1260-5165C=) c.1343C= (p.Pro448=) c.1235C= (p.Pro412=) c.1163C= (p.Pro388=) c.1319C= (p.Pro440=) c.1004C= (p.Pro335=) | |
6 | g.73600379G>T | CA364719980 | SLC17A5 | c.1322C>A (p.Pro441His) c.1271C>A (p.Pro424His) c.1124C>A (p.Pro375His) c.1174C>A (p.Pro392Thr) c.1091C>A (p.Pro364His) c.1260-5165C>A (n.1260-5165C>A) c.1343C>A (p.Pro448His) c.1235C>A (p.Pro412His) c.1163C>A (p.Pro388His) c.1319C>A (p.Pro440His) c.1004C>A (p.Pro335His) | |
6 | g.73600380G>A | CA364719981 | SLC17A5 | c.1321C>T (p.Pro441Ser) c.1270C>T (p.Pro424Ser) c.1123C>T (p.Pro375Ser) c.1173C>T (p.Gly391=) c.1090C>T (p.Pro364Ser) c.1260-5166C>T (n.1260-5166C>T) c.1342C>T (p.Pro448Ser) c.1234C>T (p.Pro412Ser) c.1162C>T (p.Pro388Ser) c.1318C>T (p.Pro440Ser) c.1003C>T (p.Pro335Ser) | dbSNP |
6 | g.73600380G>C | CA364719982 | SLC17A5 | c.1321C>G (p.Pro441Ala) c.1270C>G (p.Pro424Ala) c.1123C>G (p.Pro375Ala) c.1173C>G (p.Gly391=) c.1090C>G (p.Pro364Ala) c.1260-5166C>G (n.1260-5166C>G) c.1342C>G (p.Pro448Ala) c.1234C>G (p.Pro412Ala) c.1162C>G (p.Pro388Ala) c.1318C>G (p.Pro440Ala) c.1003C>G (p.Pro335Ala) | |
6 | g.73600380G= | CA1638223865 | SLC17A5 | c.1321C= (p.Pro441=) c.1270C= (p.Pro424=) c.1123C= (p.Pro375=) c.1173C= (p.Gly391=) c.1090C= (p.Pro364=) c.1260-5166C= (n.1260-5166C=) c.1342C= (p.Pro448=) c.1234C= (p.Pro412=) c.1162C= (p.Pro388=) c.1318C= (p.Pro440=) c.1003C= (p.Pro335=) | |
6 | g.73600380G>T | CA364719983 | SLC17A5 | c.1321C>A (p.Pro441Thr) c.1270C>A (p.Pro424Thr) c.1123C>A (p.Pro375Thr) c.1173C>A (p.Gly391=) c.1090C>A (p.Pro364Thr) c.1260-5166C>A (n.1260-5166C>A) c.1342C>A (p.Pro448Thr) c.1234C>A (p.Pro412Thr) c.1162C>A (p.Pro388Thr) c.1318C>A (p.Pro440Thr) c.1003C>A (p.Pro335Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.73600381C>A | CA450912607 | SLC17A5 | c.1320G>T (p.Gly440=) c.1269G>T (p.Gly423=) c.1122G>T (p.Gly374=) c.1172G>T (p.Gly391Val) c.1089G>T (p.Gly363=) c.1260-5167G>T (n.1260-5167G>T) c.1341G>T (p.Gly447=) c.1233G>T (p.Gly411=) c.1161G>T (p.Gly387=) c.1317G>T (p.Gly439=) c.1002G>T (p.Gly334=) | |
6 | g.73600381C= | CA1638223870 | SLC17A5 | c.1320G= (p.Gly440=) c.1269G= (p.Gly423=) c.1122G= (p.Gly374=) c.1172G= (p.Gly391=) c.1089G= (p.Gly363=) c.1260-5167G= (n.1260-5167G=) c.1341G= (p.Gly447=) c.1233G= (p.Gly411=) c.1161G= (p.Gly387=) c.1317G= (p.Gly439=) c.1002G= (p.Gly334=) | |
6 | g.73600381C>G | CA450912608 | SLC17A5 | c.1320G>C (p.Gly440=) c.1269G>C (p.Gly423=) c.1122G>C (p.Gly374=) c.1172G>C (p.Gly391Ala) c.1089G>C (p.Gly363=) c.1260-5167G>C (n.1260-5167G>C) c.1341G>C (p.Gly447=) c.1233G>C (p.Gly411=) c.1161G>C (p.Gly387=) c.1317G>C (p.Gly439=) c.1002G>C (p.Gly334=) | ClinVar dbSNP |
6 | g.73600381C>T | CA3890291 | SLC17A5 | c.1320G>A (p.Gly440=) c.1269G>A (p.Gly423=) c.1122G>A (p.Gly374=) c.1172G>A (p.Gly391Asp) c.1089G>A (p.Gly363=) c.1260-5167G>A (n.1260-5167G>A) c.1341G>A (p.Gly447=) c.1233G>A (p.Gly411=) c.1161G>A (p.Gly387=) c.1317G>A (p.Gly439=) c.1002G>A (p.Gly334=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600382C>A | CA364719984 | SLC17A5 | c.1319G>T (p.Gly440Val) c.1268G>T (p.Gly423Val) c.1121G>T (p.Gly374Val) c.1171G>T (p.Gly391Cys) c.1088G>T (p.Gly363Val) c.1260-5168G>T (n.1260-5168G>T) c.1340G>T (p.Gly447Val) c.1232G>T (p.Gly411Val) c.1160G>T (p.Gly387Val) c.1316G>T (p.Gly439Val) c.1001G>T (p.Gly334Val) | |
6 | g.73600382C>G | CA364719985 | SLC17A5 | c.1319G>C (p.Gly440Ala) c.1268G>C (p.Gly423Ala) c.1121G>C (p.Gly374Ala) c.1171G>C (p.Gly391Arg) c.1088G>C (p.Gly363Ala) c.1260-5168G>C (n.1260-5168G>C) c.1340G>C (p.Gly447Ala) c.1232G>C (p.Gly411Ala) c.1160G>C (p.Gly387Ala) c.1316G>C (p.Gly439Ala) c.1001G>C (p.Gly334Ala) | |
6 | g.73600382C>T | CA364719986 | SLC17A5 | c.1319G>A (p.Gly440Glu) c.1268G>A (p.Gly423Glu) c.1121G>A (p.Gly374Glu) c.1171G>A (p.Gly391Ser) c.1088G>A (p.Gly363Glu) c.1260-5168G>A (n.1260-5168G>A) c.1340G>A (p.Gly447Glu) c.1232G>A (p.Gly411Glu) c.1160G>A (p.Gly387Glu) c.1316G>A (p.Gly439Glu) c.1001G>A (p.Gly334Glu) | |
6 | g.73600383C>A | CA364719988 | SLC17A5 | c.1318G>T (p.Gly440Trp) c.1267G>T (p.Gly423Trp) c.1120G>T (p.Gly374Trp) c.1170G>T (p.Leu390Phe) c.1087G>T (p.Gly363Trp) c.1260-5169G>T (n.1260-5169G>T) c.1339G>T (p.Gly447Trp) c.1231G>T (p.Gly411Trp) c.1159G>T (p.Gly387Trp) c.1315G>T (p.Gly439Trp) c.1000G>T (p.Gly334Trp) | |
6 | g.73600383C= | CA1638223874 | SLC17A5 | c.1318G= (p.Gly440=) c.1267G= (p.Gly423=) c.1120G= (p.Gly374=) c.1170G= (p.Leu390=) c.1087G= (p.Gly363=) c.1260-5169G= (n.1260-5169G=) c.1339G= (p.Gly447=) c.1231G= (p.Gly411=) c.1159G= (p.Gly387=) c.1315G= (p.Gly439=) c.1000G= (p.Gly334=) | |
6 | g.73600383C>G | CA364719987 | SLC17A5 | c.1318G>C (p.Gly440Arg) c.1267G>C (p.Gly423Arg) c.1120G>C (p.Gly374Arg) c.1170G>C (p.Leu390Phe) c.1087G>C (p.Gly363Arg) c.1260-5169G>C (n.1260-5169G>C) c.1339G>C (p.Gly447Arg) c.1231G>C (p.Gly411Arg) c.1159G>C (p.Gly387Arg) c.1315G>C (p.Gly439Arg) c.1000G>C (p.Gly334Arg) | |
6 | g.73600383C>T | CA3890292 | SLC17A5 | c.1318G>A (p.Gly440Arg) c.1267G>A (p.Gly423Arg) c.1120G>A (p.Gly374Arg) c.1170G>A (p.Leu390=) c.1087G>A (p.Gly363Arg) c.1260-5169G>A (n.1260-5169G>A) c.1339G>A (p.Gly447Arg) c.1231G>A (p.Gly411Arg) c.1159G>A (p.Gly387Arg) c.1315G>A (p.Gly439Arg) c.1000G>A (p.Gly334Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73600384A>C | CA450912615 | SLC17A5 | c.1317T>G (p.Val439=) c.1266T>G (p.Val422=) c.1119T>G (p.Val373=) c.1169T>G (p.Leu390Trp) c.1086T>G (p.Val362=) c.1260-5170T>G (n.1260-5170T>G) c.1338T>G (p.Val446=) c.1230T>G (p.Val410=) c.1158T>G (p.Val386=) c.1314T>G (p.Val438=) c.999T>G (p.Val333=) | |
6 | g.73600384A>G | CA450912614 | SLC17A5 | c.1317T>C (p.Val439=) c.1266T>C (p.Val422=) c.1119T>C (p.Val373=) c.1169T>C (p.Leu390Ser) c.1086T>C (p.Val362=) c.1260-5170T>C (n.1260-5170T>C) c.1338T>C (p.Val446=) c.1230T>C (p.Val410=) c.1158T>C (p.Val386=) c.1314T>C (p.Val438=) c.999T>C (p.Val333=) | ClinVar gnomAD v4 |
6 | g.73600384A>T | CA450912613 | SLC17A5 | c.1317T>A (p.Val439=) c.1266T>A (p.Val422=) c.1119T>A (p.Val373=) c.1169T>A (p.Leu390Ter) c.1086T>A (p.Val362=) c.1260-5170T>A (n.1260-5170T>A) c.1338T>A (p.Val446=) c.1230T>A (p.Val410=) c.1158T>A (p.Val386=) c.1314T>A (p.Val438=) c.999T>A (p.Val333=) | |
6 | g.73600385A= | CA1638223878 | SLC17A5 | c.1316T= (p.Val439=) c.1265T= (p.Val422=) c.1118T= (p.Val373=) c.1168T= (p.Leu390=) c.1085T= (p.Val362=) c.1260-5171T= (n.1260-5171T=) c.1337T= (p.Val446=) c.1229T= (p.Val410=) c.1157T= (p.Val386=) c.1313T= (p.Val438=) c.998T= (p.Val333=) | |
6 | g.73600385A>C | CA364719989 | SLC17A5 | c.1316T>G (p.Val439Gly) c.1265T>G (p.Val422Gly) c.1118T>G (p.Val373Gly) c.1168T>G (p.Leu390Val) c.1085T>G (p.Val362Gly) c.1260-5171T>G (n.1260-5171T>G) c.1337T>G (p.Val446Gly) c.1229T>G (p.Val410Gly) c.1157T>G (p.Val386Gly) c.1313T>G (p.Val438Gly) c.998T>G (p.Val333Gly) | |
6 | g.73600385A>G | CA3890293 | SLC17A5 | c.1316T>C (p.Val439Ala) c.1265T>C (p.Val422Ala) c.1118T>C (p.Val373Ala) c.1168T>C (p.Leu390=) c.1085T>C (p.Val362Ala) c.1260-5171T>C (n.1260-5171T>C) c.1337T>C (p.Val446Ala) c.1229T>C (p.Val410Ala) c.1157T>C (p.Val386Ala) c.1313T>C (p.Val438Ala) c.998T>C (p.Val333Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600385A>T | CA3890294 | SLC17A5 | c.1316T>A (p.Val439Asp) c.1265T>A (p.Val422Asp) c.1118T>A (p.Val373Asp) c.1168T>A (p.Leu390Met) c.1085T>A (p.Val362Asp) c.1260-5171T>A (n.1260-5171T>A) c.1337T>A (p.Val446Asp) c.1229T>A (p.Val410Asp) c.1157T>A (p.Val386Asp) c.1313T>A (p.Val438Asp) c.998T>A (p.Val333Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73600386C>A | CA364719990 | SLC17A5 | c.1315G>T (p.Val439Phe) c.1264G>T (p.Val422Phe) c.1117G>T (p.Val373Phe) c.1167G>T (p.Trp389Cys) c.1084G>T (p.Val362Phe) c.1260-5172G>T (n.1260-5172G>T) c.1336G>T (p.Val446Phe) c.1228G>T (p.Val410Phe) c.1156G>T (p.Val386Phe) c.1312G>T (p.Val438Phe) c.997G>T (p.Val333Phe) | |
6 | g.73600386C>G | CA364719991 | SLC17A5 | c.1315G>C (p.Val439Leu) c.1264G>C (p.Val422Leu) c.1117G>C (p.Val373Leu) c.1167G>C (p.Trp389Cys) c.1084G>C (p.Val362Leu) c.1260-5172G>C (n.1260-5172G>C) c.1336G>C (p.Val446Leu) c.1228G>C (p.Val410Leu) c.1156G>C (p.Val386Leu) c.1312G>C (p.Val438Leu) c.997G>C (p.Val333Leu) | |
6 | g.73600386C>T | CA364719992 | SLC17A5 | c.1315G>A (p.Val439Ile) c.1264G>A (p.Val422Ile) c.1117G>A (p.Val373Ile) c.1167G>A (p.Trp389Ter) c.1084G>A (p.Val362Ile) c.1260-5172G>A (n.1260-5172G>A) c.1336G>A (p.Val446Ile) c.1228G>A (p.Val410Ile) c.1156G>A (p.Val386Ile) c.1312G>A (p.Val438Ile) c.997G>A (p.Val333Ile) | gnomAD v4 |
6 | g.73600387C>A | CA364719993 | SLC17A5 | c.1314G>T (p.Met438Ile) c.1263G>T (p.Met421Ile) c.1116G>T (p.Met372Ile) c.1166G>T (p.Trp389Leu) c.1083G>T (p.Met361Ile) c.1260-5173G>T (n.1260-5173G>T) c.1335G>T (p.Met445Ile) c.1227G>T (p.Met409Ile) c.1155G>T (p.Met385Ile) c.1311G>T (p.Met437Ile) c.996G>T (p.Met332Ile) | |
6 | g.73600387C>G | CA364719994 | SLC17A5 | c.1314G>C (p.Met438Ile) c.1263G>C (p.Met421Ile) c.1116G>C (p.Met372Ile) c.1166G>C (p.Trp389Ser) c.1083G>C (p.Met361Ile) c.1260-5173G>C (n.1260-5173G>C) c.1335G>C (p.Met445Ile) c.1227G>C (p.Met409Ile) c.1155G>C (p.Met385Ile) c.1311G>C (p.Met437Ile) c.996G>C (p.Met332Ile) | |
6 | g.73600387C>T | CA364719995 | SLC17A5 | c.1314G>A (p.Met438Ile) c.1263G>A (p.Met421Ile) c.1116G>A (p.Met372Ile) c.1166G>A (p.Trp389Ter) c.1083G>A (p.Met361Ile) c.1260-5173G>A (n.1260-5173G>A) c.1335G>A (p.Met445Ile) c.1227G>A (p.Met409Ile) c.1155G>A (p.Met385Ile) c.1311G>A (p.Met437Ile) c.996G>A (p.Met332Ile) | |
6 | g.73600388A>C | CA364719996 | SLC17A5 | c.1313T>G (p.Met438Arg) c.1262T>G (p.Met421Arg) c.1115T>G (p.Met372Arg) c.1165T>G (p.Trp389Gly) c.1082T>G (p.Met361Arg) c.1260-5174T>G (n.1260-5174T>G) c.1334T>G (p.Met445Arg) c.1226T>G (p.Met409Arg) c.1154T>G (p.Met385Arg) c.1310T>G (p.Met437Arg) c.995T>G (p.Met332Arg) | |
6 | g.73600388A>G | CA364719997 | SLC17A5 | c.1313T>C (p.Met438Thr) c.1262T>C (p.Met421Thr) c.1115T>C (p.Met372Thr) c.1165T>C (p.Trp389Arg) c.1082T>C (p.Met361Thr) c.1260-5174T>C (n.1260-5174T>C) c.1334T>C (p.Met445Thr) c.1226T>C (p.Met409Thr) c.1154T>C (p.Met385Thr) c.1310T>C (p.Met437Thr) c.995T>C (p.Met332Thr) | gnomAD v4 |
6 | g.73600388A>T | CA364719998 | SLC17A5 | c.1313T>A (p.Met438Lys) c.1262T>A (p.Met421Lys) c.1115T>A (p.Met372Lys) c.1165T>A (p.Trp389Arg) c.1082T>A (p.Met361Lys) c.1260-5174T>A (n.1260-5174T>A) c.1334T>A (p.Met445Lys) c.1226T>A (p.Met409Lys) c.1154T>A (p.Met385Lys) c.1310T>A (p.Met437Lys) c.995T>A (p.Met332Lys) | |
6 | g.73600389T>A | CA364720000 | SLC17A5 | c.1312A>T (p.Met438Leu) c.1261A>T (p.Met421Leu) c.1114A>T (p.Met372Leu) c.1164A>T (p.Glu388Asp) c.1081A>T (p.Met361Leu) c.1260-5175A>T (n.1260-5175A>T) c.1333A>T (p.Met445Leu) c.1225A>T (p.Met409Leu) c.1153A>T (p.Met385Leu) c.1309A>T (p.Met437Leu) c.994A>T (p.Met332Leu) | |
6 | g.73600389T>C | CA364720001 | SLC17A5 | c.1312A>G (p.Met438Val) c.1261A>G (p.Met421Val) c.1114A>G (p.Met372Val) c.1164A>G (p.Glu388=) c.1081A>G (p.Met361Val) c.1260-5175A>G (n.1260-5175A>G) c.1333A>G (p.Met445Val) c.1225A>G (p.Met409Val) c.1153A>G (p.Met385Val) c.1309A>G (p.Met437Val) c.994A>G (p.Met332Val) | |
6 | g.73600389T>G | CA364719999 | SLC17A5 | c.1312A>C (p.Met438Leu) c.1261A>C (p.Met421Leu) c.1114A>C (p.Met372Leu) c.1164A>C (p.Glu388Asp) c.1081A>C (p.Met361Leu) c.1260-5175A>C (n.1260-5175A>C) c.1333A>C (p.Met445Leu) c.1225A>C (p.Met409Leu) c.1153A>C (p.Met385Leu) c.1309A>C (p.Met437Leu) c.994A>C (p.Met332Leu) | |
6 | g.73600390T>A | CA450912627 | SLC17A5 | c.1311A>T (p.Gly437=) c.1260A>T (p.Gly420=) c.1113A>T (p.Gly371=) c.1163A>T (p.Glu388Val) c.1080A>T (p.Gly360=) c.1260-5176A>T (n.1260-5176A>T) c.1332A>T (p.Gly444=) c.1224A>T (p.Gly408=) c.1152A>T (p.Gly384=) c.1308A>T (p.Gly436=) c.993A>T (p.Gly331=) | |
6 | g.73600390T>C | CA450912630 | SLC17A5 | c.1311A>G (p.Gly437=) c.1260A>G (p.Gly420=) c.1113A>G (p.Gly371=) c.1163A>G (p.Glu388Gly) c.1080A>G (p.Gly360=) c.1260-5176A>G (n.1260-5176A>G) c.1332A>G (p.Gly444=) c.1224A>G (p.Gly408=) c.1152A>G (p.Gly384=) c.1308A>G (p.Gly436=) c.993A>G (p.Gly331=) | |
6 | g.73600390T>G | CA450912629 | SLC17A5 | c.1311A>C (p.Gly437=) c.1260A>C (p.Gly420=) c.1113A>C (p.Gly371=) c.1163A>C (p.Glu388Ala) c.1080A>C (p.Gly360=) c.1260-5176A>C (n.1260-5176A>C) c.1332A>C (p.Gly444=) c.1224A>C (p.Gly408=) c.1152A>C (p.Gly384=) c.1308A>C (p.Gly436=) c.993A>C (p.Gly331=) | |
6 | g.73600391C>A | CA364720002 | SLC17A5 | c.1310G>T (p.Gly437Val) c.1259G>T (p.Gly420Val) c.1112G>T (p.Gly371Val) c.1162G>T (p.Glu388Ter) c.1079G>T (p.Gly360Val) c.1260-5177G>T (n.1260-5177G>T) c.1331G>T (p.Gly444Val) c.1223G>T (p.Gly408Val) c.1151G>T (p.Gly384Val) c.1307G>T (p.Gly436Val) c.992G>T (p.Gly331Val) | |
6 | g.73600391C>G | CA364720003 | SLC17A5 | c.1310G>C (p.Gly437Ala) c.1259G>C (p.Gly420Ala) c.1112G>C (p.Gly371Ala) c.1162G>C (p.Glu388Gln) c.1079G>C (p.Gly360Ala) c.1260-5177G>C (n.1260-5177G>C) c.1331G>C (p.Gly444Ala) c.1223G>C (p.Gly408Ala) c.1151G>C (p.Gly384Ala) c.1307G>C (p.Gly436Ala) c.992G>C (p.Gly331Ala) | |
6 | g.73600391C>T | CA364720004 | SLC17A5 | c.1310G>A (p.Gly437Glu) c.1259G>A (p.Gly420Glu) c.1112G>A (p.Gly371Glu) c.1162G>A (p.Glu388Lys) c.1079G>A (p.Gly360Glu) c.1260-5177G>A (n.1260-5177G>A) c.1331G>A (p.Gly444Glu) c.1223G>A (p.Gly408Glu) c.1151G>A (p.Gly384Glu) c.1307G>A (p.Gly436Glu) c.992G>A (p.Gly331Glu) | |
6 | g.73600392C>A | CA364720005 | SLC17A5 | c.1309G>T (p.Gly437Ter) c.1258G>T (p.Gly420Ter) c.1111G>T (p.Gly371Ter) c.1161G>T (p.Gln387His) c.1078G>T (p.Gly360Ter) c.1260-5178G>T (n.1260-5178G>T) c.1330G>T (p.Gly444Ter) c.1222G>T (p.Gly408Ter) c.1150G>T (p.Gly384Ter) c.1306G>T (p.Gly436Ter) c.991G>T (p.Gly331Ter) | |
6 | g.73600392C>G | CA364720006 | SLC17A5 | c.1309G>C (p.Gly437Arg) c.1258G>C (p.Gly420Arg) c.1111G>C (p.Gly371Arg) c.1161G>C (p.Gln387His) c.1078G>C (p.Gly360Arg) c.1260-5178G>C (n.1260-5178G>C) c.1330G>C (p.Gly444Arg) c.1222G>C (p.Gly408Arg) c.1150G>C (p.Gly384Arg) c.1306G>C (p.Gly436Arg) c.991G>C (p.Gly331Arg) | |
6 | g.73600392C>T | CA364720007 | SLC17A5 | c.1309G>A (p.Gly437Arg) c.1258G>A (p.Gly420Arg) c.1111G>A (p.Gly371Arg) c.1161G>A (p.Gln387=) c.1078G>A (p.Gly360Arg) c.1260-5178G>A (n.1260-5178G>A) c.1330G>A (p.Gly444Arg) c.1222G>A (p.Gly408Arg) c.1150G>A (p.Gly384Arg) c.1306G>A (p.Gly436Arg) c.991G>A (p.Gly331Arg) | |
6 | g.73600393T>A | CA450912631 | SLC17A5 | c.1308A>T (p.Pro436=) c.1257A>T (p.Pro419=) c.1110A>T (p.Pro370=) c.1160A>T (p.Gln387Leu) c.1077A>T (p.Pro359=) c.1260-5179A>T (n.1260-5179A>T) c.1329A>T (p.Pro443=) c.1221A>T (p.Pro407=) c.1149A>T (p.Pro383=) c.1305A>T (p.Pro435=) c.990A>T (p.Pro330=) | |
6 | g.73600393T>C | CA450912632 | SLC17A5 | c.1308A>G (p.Pro436=) c.1257A>G (p.Pro419=) c.1110A>G (p.Pro370=) c.1160A>G (p.Gln387Arg) c.1077A>G (p.Pro359=) c.1260-5179A>G (n.1260-5179A>G) c.1329A>G (p.Pro443=) c.1221A>G (p.Pro407=) c.1149A>G (p.Pro383=) c.1305A>G (p.Pro435=) c.990A>G (p.Pro330=) | |
6 | g.73600393T>G | CA450912633 | SLC17A5 | c.1308A>C (p.Pro436=) c.1257A>C (p.Pro419=) c.1110A>C (p.Pro370=) c.1160A>C (p.Gln387Pro) c.1077A>C (p.Pro359=) c.1260-5179A>C (n.1260-5179A>C) c.1329A>C (p.Pro443=) c.1221A>C (p.Pro407=) c.1149A>C (p.Pro383=) c.1305A>C (p.Pro435=) c.990A>C (p.Pro330=) | |
6 | g.73600394G>A | CA364720008 | SLC17A5 | c.1307C>T (p.Pro436Leu) c.1256C>T (p.Pro419Leu) c.1109C>T (p.Pro370Leu) c.1159C>T (p.Gln387Ter) c.1076C>T (p.Pro359Leu) c.1260-5180C>T (n.1260-5180C>T) c.1328C>T (p.Pro443Leu) c.1220C>T (p.Pro407Leu) c.1148C>T (p.Pro383Leu) c.1304C>T (p.Pro435Leu) c.989C>T (p.Pro330Leu) | |
6 | g.73600394G>C | CA364720009 | SLC17A5 | c.1307C>G (p.Pro436Arg) c.1256C>G (p.Pro419Arg) c.1109C>G (p.Pro370Arg) c.1159C>G (p.Gln387Glu) c.1076C>G (p.Pro359Arg) c.1260-5180C>G (n.1260-5180C>G) c.1328C>G (p.Pro443Arg) c.1220C>G (p.Pro407Arg) c.1148C>G (p.Pro383Arg) c.1304C>G (p.Pro435Arg) c.989C>G (p.Pro330Arg) | dbSNP |
6 | g.73600394G= | CA1638223881 | SLC17A5 | c.1307C= (p.Pro436=) c.1256C= (p.Pro419=) c.1109C= (p.Pro370=) c.1159C= (p.Gln387=) c.1076C= (p.Pro359=) c.1260-5180C= (n.1260-5180C=) c.1328C= (p.Pro443=) c.1220C= (p.Pro407=) c.1148C= (p.Pro383=) c.1304C= (p.Pro435=) c.989C= (p.Pro330=) | |
6 | g.73600394G>T | CA364720010 | SLC17A5 | c.1307C>A (p.Pro436Gln) c.1256C>A (p.Pro419Gln) c.1109C>A (p.Pro370Gln) c.1159C>A (p.Gln387Lys) c.1076C>A (p.Pro359Gln) c.1260-5180C>A (n.1260-5180C>A) c.1328C>A (p.Pro443Gln) c.1220C>A (p.Pro407Gln) c.1148C>A (p.Pro383Gln) c.1304C>A (p.Pro435Gln) c.989C>A (p.Pro330Gln) | |
6 | g.73600395G>A | CA364720011 | SLC17A5 | c.1306C>T (p.Pro436Ser) c.1255C>T (p.Pro419Ser) c.1108C>T (p.Pro370Ser) c.1158C>T (p.Phe386=) c.1075C>T (p.Pro359Ser) c.1260-5181C>T (n.1260-5181C>T) c.1327C>T (p.Pro443Ser) c.1219C>T (p.Pro407Ser) c.1147C>T (p.Pro383Ser) c.1303C>T (p.Pro435Ser) c.988C>T (p.Pro330Ser) | gnomAD v4 |
6 | g.73600395G>C | CA364720012 | SLC17A5 | c.1306C>G (p.Pro436Ala) c.1255C>G (p.Pro419Ala) c.1108C>G (p.Pro370Ala) c.1158C>G (p.Phe386Leu) c.1075C>G (p.Pro359Ala) c.1260-5181C>G (n.1260-5181C>G) c.1327C>G (p.Pro443Ala) c.1219C>G (p.Pro407Ala) c.1147C>G (p.Pro383Ala) c.1303C>G (p.Pro435Ala) c.988C>G (p.Pro330Ala) | dbSNP |
6 | g.73600395G= | CA1638223886 | SLC17A5 | c.1306C= (p.Pro436=) c.1255C= (p.Pro419=) c.1108C= (p.Pro370=) c.1158C= (p.Phe386=) c.1075C= (p.Pro359=) c.1260-5181C= (n.1260-5181C=) c.1327C= (p.Pro443=) c.1219C= (p.Pro407=) c.1147C= (p.Pro383=) c.1303C= (p.Pro435=) c.988C= (p.Pro330=) | |
6 | g.73600395G>T | CA364720013 | SLC17A5 | c.1306C>A (p.Pro436Thr) c.1255C>A (p.Pro419Thr) c.1108C>A (p.Pro370Thr) c.1158C>A (p.Phe386Leu) c.1075C>A (p.Pro359Thr) c.1260-5181C>A (n.1260-5181C>A) c.1327C>A (p.Pro443Thr) c.1219C>A (p.Pro407Thr) c.1147C>A (p.Pro383Thr) c.1303C>A (p.Pro435Thr) c.988C>A (p.Pro330Thr) | |
6 | g.73600396A>C | CA364720014 | SLC17A5 | c.1305T>G (p.Ile435Met) c.1254T>G (p.Ile418Met) c.1107T>G (p.Ile369Met) c.1157T>G (p.Phe386Cys) c.1074T>G (p.Ile358Met) c.1260-5182T>G (n.1260-5182T>G) c.1326T>G (p.Ile442Met) c.1218T>G (p.Ile406Met) c.1146T>G (p.Ile382Met) c.1302T>G (p.Ile434Met) c.987T>G (p.Ile329Met) | |
6 | g.73600396A>G | CA450912636 | SLC17A5 | c.1305T>C (p.Ile435=) c.1254T>C (p.Ile418=) c.1107T>C (p.Ile369=) c.1157T>C (p.Phe386Ser) c.1074T>C (p.Ile358=) c.1260-5182T>C (n.1260-5182T>C) c.1326T>C (p.Ile442=) c.1218T>C (p.Ile406=) c.1146T>C (p.Ile382=) c.1302T>C (p.Ile434=) c.987T>C (p.Ile329=) | |
6 | g.73600396A>T | CA450912637 | SLC17A5 | c.1305T>A (p.Ile435=) c.1254T>A (p.Ile418=) c.1107T>A (p.Ile369=) c.1157T>A (p.Phe386Tyr) c.1074T>A (p.Ile358=) c.1260-5182T>A (n.1260-5182T>A) c.1326T>A (p.Ile442=) c.1218T>A (p.Ile406=) c.1146T>A (p.Ile382=) c.1302T>A (p.Ile434=) c.987T>A (p.Ile329=) | dbSNP |
6 | g.73600397A>C | CA364720016 | SLC17A5 | c.1304T>G (p.Ile435Ser) c.1253T>G (p.Ile418Ser) c.1106T>G (p.Ile369Ser) c.1156T>G (p.Phe386Val) c.1073T>G (p.Ile358Ser) c.1260-5183T>G (n.1260-5183T>G) c.1325T>G (p.Ile442Ser) c.1217T>G (p.Ile406Ser) c.1145T>G (p.Ile382Ser) c.1301T>G (p.Ile434Ser) c.986T>G (p.Ile329Ser) | |
6 | g.73600397A>G | CA364720017 | SLC17A5 | c.1304T>C (p.Ile435Thr) c.1253T>C (p.Ile418Thr) c.1106T>C (p.Ile369Thr) c.1156T>C (p.Phe386Leu) c.1073T>C (p.Ile358Thr) c.1260-5183T>C (n.1260-5183T>C) c.1325T>C (p.Ile442Thr) c.1217T>C (p.Ile406Thr) c.1145T>C (p.Ile382Thr) c.1301T>C (p.Ile434Thr) c.986T>C (p.Ile329Thr) | |
6 | g.73600397A>T | CA364720015 | SLC17A5 | c.1304T>A (p.Ile435Asn) c.1253T>A (p.Ile418Asn) c.1106T>A (p.Ile369Asn) c.1156T>A (p.Phe386Ile) c.1073T>A (p.Ile358Asn) c.1260-5183T>A (n.1260-5183T>A) c.1325T>A (p.Ile442Asn) c.1217T>A (p.Ile406Asn) c.1145T>A (p.Ile382Asn) c.1301T>A (p.Ile434Asn) c.986T>A (p.Ile329Asn) | |
6 | g.73600398T>A | CA364720018 | SLC17A5 | c.1303A>T (p.Ile435Phe) c.1252A>T (p.Ile418Phe) c.1105A>T (p.Ile369Phe) c.1155A>T (p.Leu385=) c.1072A>T (p.Ile358Phe) c.1260-5184A>T (n.1260-5184A>T) c.1324A>T (p.Ile442Phe) c.1216A>T (p.Ile406Phe) c.1144A>T (p.Ile382Phe) c.1300A>T (p.Ile434Phe) c.985A>T (p.Ile329Phe) | |
6 | g.73600398T>C | CA364720019 | SLC17A5 | c.1303A>G (p.Ile435Val) c.1252A>G (p.Ile418Val) c.1105A>G (p.Ile369Val) c.1155A>G (p.Leu385=) c.1072A>G (p.Ile358Val) c.1260-5184A>G (n.1260-5184A>G) c.1324A>G (p.Ile442Val) c.1216A>G (p.Ile406Val) c.1144A>G (p.Ile382Val) c.1300A>G (p.Ile434Val) c.985A>G (p.Ile329Val) | |
6 | g.73600398T>G | CA364720020 | SLC17A5 | c.1303A>C (p.Ile435Leu) c.1252A>C (p.Ile418Leu) c.1105A>C (p.Ile369Leu) c.1155A>C (p.Leu385=) c.1072A>C (p.Ile358Leu) c.1260-5184A>C (n.1260-5184A>C) c.1324A>C (p.Ile442Leu) c.1216A>C (p.Ile406Leu) c.1144A>C (p.Ile382Leu) c.1300A>C (p.Ile434Leu) c.985A>C (p.Ile329Leu) | |
6 | g.73600399A>C | CA450912645 | SLC17A5 | c.1302T>G (p.Thr434=) c.1251T>G (p.Thr417=) c.1104T>G (p.Thr368=) c.1154T>G (p.Leu385Arg) c.1071T>G (p.Thr357=) c.1260-5185T>G (n.1260-5185T>G) c.1323T>G (p.Thr441=) c.1215T>G (p.Thr405=) c.1143T>G (p.Thr381=) c.1299T>G (p.Thr433=) c.984T>G (p.Thr328=) | ClinVar |
6 | g.73600399A>G | CA450912646 | SLC17A5 | c.1302T>C (p.Thr434=) c.1251T>C (p.Thr417=) c.1104T>C (p.Thr368=) c.1154T>C (p.Leu385Pro) c.1071T>C (p.Thr357=) c.1260-5185T>C (n.1260-5185T>C) c.1323T>C (p.Thr441=) c.1215T>C (p.Thr405=) c.1143T>C (p.Thr381=) c.1299T>C (p.Thr433=) c.984T>C (p.Thr328=) | |
6 | g.73600399A>T | CA450912648 | SLC17A5 | c.1302T>A (p.Thr434=) c.1251T>A (p.Thr417=) c.1104T>A (p.Thr368=) c.1154T>A (p.Leu385Gln) c.1071T>A (p.Thr357=) c.1260-5185T>A (n.1260-5185T>A) c.1323T>A (p.Thr441=) c.1215T>A (p.Thr405=) c.1143T>A (p.Thr381=) c.1299T>A (p.Thr433=) c.984T>A (p.Thr328=) | |
6 | g.73600400G>A | CA364720021 | SLC17A5 | c.1301C>T (p.Thr434Ile) c.1250C>T (p.Thr417Ile) c.1103C>T (p.Thr368Ile) c.1153C>T (p.Leu385=) c.1070C>T (p.Thr357Ile) c.1260-5186C>T (n.1260-5186C>T) c.1322C>T (p.Thr441Ile) c.1214C>T (p.Thr405Ile) c.1142C>T (p.Thr381Ile) c.1298C>T (p.Thr433Ile) c.983C>T (p.Thr328Ile) | |
6 | g.73600400G>C | CA364720022 | SLC17A5 | c.1301C>G (p.Thr434Ser) c.1250C>G (p.Thr417Ser) c.1103C>G (p.Thr368Ser) c.1153C>G (p.Leu385Val) c.1070C>G (p.Thr357Ser) c.1260-5186C>G (n.1260-5186C>G) c.1322C>G (p.Thr441Ser) c.1214C>G (p.Thr405Ser) c.1142C>G (p.Thr381Ser) c.1298C>G (p.Thr433Ser) c.983C>G (p.Thr328Ser) | |
6 | g.73600400G>T | CA364720023 | SLC17A5 | c.1301C>A (p.Thr434Asn) c.1250C>A (p.Thr417Asn) c.1103C>A (p.Thr368Asn) c.1153C>A (p.Leu385Ile) c.1070C>A (p.Thr357Asn) c.1260-5186C>A (n.1260-5186C>A) c.1322C>A (p.Thr441Asn) c.1214C>A (p.Thr405Asn) c.1142C>A (p.Thr381Asn) c.1298C>A (p.Thr433Asn) c.983C>A (p.Thr328Asn) | |
6 | g.73600401T>A | CA3890295 | SLC17A5 | c.1300A>T (p.Thr434Ser) c.1249A>T (p.Thr417Ser) c.1102A>T (p.Thr368Ser) c.1152A>T (p.Pro384=) c.1069A>T (p.Thr357Ser) c.1260-5187A>T (n.1260-5187A>T) c.1321A>T (p.Thr441Ser) c.1213A>T (p.Thr405Ser) c.1141A>T (p.Thr381Ser) c.1297A>T (p.Thr433Ser) c.982A>T (p.Thr328Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.73600401T>C | CA364720024 | SLC17A5 | c.1300A>G (p.Thr434Ala) c.1249A>G (p.Thr417Ala) c.1102A>G (p.Thr368Ala) c.1152A>G (p.Pro384=) c.1069A>G (p.Thr357Ala) c.1260-5187A>G (n.1260-5187A>G) c.1321A>G (p.Thr441Ala) c.1213A>G (p.Thr405Ala) c.1141A>G (p.Thr381Ala) c.1297A>G (p.Thr433Ala) c.982A>G (p.Thr328Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.73600401T>G | CA364720025 | SLC17A5 | c.1300A>C (p.Thr434Pro) c.1249A>C (p.Thr417Pro) c.1102A>C (p.Thr368Pro) c.1152A>C (p.Pro384=) c.1069A>C (p.Thr357Pro) c.1260-5187A>C (n.1260-5187A>C) c.1321A>C (p.Thr441Pro) c.1213A>C (p.Thr405Pro) c.1141A>C (p.Thr381Pro) c.1297A>C (p.Thr433Pro) c.982A>C (p.Thr328Pro) | |
6 | g.73600401T= | CA1638223888 | SLC17A5 | c.1300A= (p.Thr434=) c.1249A= (p.Thr417=) c.1102A= (p.Thr368=) c.1152A= (p.Pro384=) c.1069A= (p.Thr357=) c.1260-5187A= (n.1260-5187A=) c.1321A= (p.Thr441=) c.1213A= (p.Thr405=) c.1141A= (p.Thr381=) c.1297A= (p.Thr433=) c.982A= (p.Thr328=) | |
6 | g.73600402G>A | CA450912655 | SLC17A5 | c.1299C>T (p.Ala433=) c.1248C>T (p.Ala416=) c.1101C>T (p.Ala367=) c.1151C>T (p.Pro384Leu) c.1068C>T (p.Ala356=) c.1260-5188C>T (n.1260-5188C>T) c.1320C>T (p.Ala440=) c.1212C>T (p.Ala404=) c.1140C>T (p.Ala380=) c.1296C>T (p.Ala432=) c.981C>T (p.Ala327=) | |
6 | g.73600402G>C | CA450912657 | SLC17A5 | c.1299C>G (p.Ala433=) c.1248C>G (p.Ala416=) c.1101C>G (p.Ala367=) c.1151C>G (p.Pro384Arg) c.1068C>G (p.Ala356=) c.1260-5188C>G (n.1260-5188C>G) c.1320C>G (p.Ala440=) c.1212C>G (p.Ala404=) c.1140C>G (p.Ala380=) c.1296C>G (p.Ala432=) c.981C>G (p.Ala327=) | |
6 | g.73600402G>T | CA450912658 | SLC17A5 | c.1299C>A (p.Ala433=) c.1248C>A (p.Ala416=) c.1101C>A (p.Ala367=) c.1151C>A (p.Pro384Gln) c.1068C>A (p.Ala356=) c.1260-5188C>A (n.1260-5188C>A) c.1320C>A (p.Ala440=) c.1212C>A (p.Ala404=) c.1140C>A (p.Ala380=) c.1296C>A (p.Ala432=) c.981C>A (p.Ala327=) | dbSNP |
6 | g.73600403G>A | CA364720026 | SLC17A5 | c.1298C>T (p.Ala433Val) c.1247C>T (p.Ala416Val) c.1100C>T (p.Ala367Val) c.1150C>T (p.Pro384Ser) c.1067C>T (p.Ala356Val) c.1260-5189C>T (n.1260-5189C>T) c.1319C>T (p.Ala440Val) c.1211C>T (p.Ala404Val) c.1139C>T (p.Ala380Val) c.1295C>T (p.Ala432Val) c.980C>T (p.Ala327Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600403G>C | CA364720027 | SLC17A5 | c.1298C>G (p.Ala433Gly) c.1247C>G (p.Ala416Gly) c.1100C>G (p.Ala367Gly) c.1150C>G (p.Pro384Ala) c.1067C>G (p.Ala356Gly) c.1260-5189C>G (n.1260-5189C>G) c.1319C>G (p.Ala440Gly) c.1211C>G (p.Ala404Gly) c.1139C>G (p.Ala380Gly) c.1295C>G (p.Ala432Gly) c.980C>G (p.Ala327Gly) | |
6 | g.73600403G= | CA1638223893 | SLC17A5 | c.1298C= (p.Ala433=) c.1247C= (p.Ala416=) c.1100C= (p.Ala367=) c.1150C= (p.Pro384=) c.1067C= (p.Ala356=) c.1260-5189C= (n.1260-5189C=) c.1319C= (p.Ala440=) c.1211C= (p.Ala404=) c.1139C= (p.Ala380=) c.1295C= (p.Ala432=) c.980C= (p.Ala327=) | |
6 | g.73600403G>T | CA364720028 | SLC17A5 | c.1298C>A (p.Ala433Asp) c.1247C>A (p.Ala416Asp) c.1100C>A (p.Ala367Asp) c.1150C>A (p.Pro384Thr) c.1067C>A (p.Ala356Asp) c.1260-5189C>A (n.1260-5189C>A) c.1319C>A (p.Ala440Asp) c.1211C>A (p.Ala404Asp) c.1139C>A (p.Ala380Asp) c.1295C>A (p.Ala432Asp) c.980C>A (p.Ala327Asp) | |
6 | g.73600404C>A | CA364720029 | SLC17A5 | c.1297G>T (p.Ala433Ser) c.1246G>T (p.Ala416Ser) c.1099G>T (p.Ala367Ser) c.1149G>T (p.Leu383Phe) c.1066G>T (p.Ala356Ser) c.1260-5190G>T (n.1260-5190G>T) c.1318G>T (p.Ala440Ser) c.1210G>T (p.Ala404Ser) c.1138G>T (p.Ala380Ser) c.1294G>T (p.Ala432Ser) c.979G>T (p.Ala327Ser) | |
6 | g.73600404C>G | CA364720030 | SLC17A5 | c.1297G>C (p.Ala433Pro) c.1246G>C (p.Ala416Pro) c.1099G>C (p.Ala367Pro) c.1149G>C (p.Leu383Phe) c.1066G>C (p.Ala356Pro) c.1260-5190G>C (n.1260-5190G>C) c.1318G>C (p.Ala440Pro) c.1210G>C (p.Ala404Pro) c.1138G>C (p.Ala380Pro) c.1294G>C (p.Ala432Pro) c.979G>C (p.Ala327Pro) | |
6 | g.73600404C>T | CA364720031 | SLC17A5 | c.1297G>A (p.Ala433Thr) c.1246G>A (p.Ala416Thr) c.1099G>A (p.Ala367Thr) c.1149G>A (p.Leu383=) c.1066G>A (p.Ala356Thr) c.1260-5190G>A (n.1260-5190G>A) c.1318G>A (p.Ala440Thr) c.1210G>A (p.Ala404Thr) c.1138G>A (p.Ala380Thr) c.1294G>A (p.Ala432Thr) c.979G>A (p.Ala327Thr) | |
6 | g.73600405A>C | CA364720033 | SLC17A5 | c.1296T>G (p.Phe432Leu) c.1245T>G (p.Phe415Leu) c.1098T>G (p.Phe366Leu) c.1148T>G (p.Leu383Trp) c.1065T>G (p.Phe355Leu) c.1260-5191T>G (n.1260-5191T>G) c.1317T>G (p.Phe439Leu) c.1209T>G (p.Phe403Leu) c.1137T>G (p.Phe379Leu) c.1293T>G (p.Phe431Leu) c.978T>G (p.Phe326Leu) | |
6 | g.73600405A>G | CA450912664 | SLC17A5 | c.1296T>C (p.Phe432=) c.1245T>C (p.Phe415=) c.1098T>C (p.Phe366=) c.1148T>C (p.Leu383Ser) c.1065T>C (p.Phe355=) c.1260-5191T>C (n.1260-5191T>C) c.1317T>C (p.Phe439=) c.1209T>C (p.Phe403=) c.1137T>C (p.Phe379=) c.1293T>C (p.Phe431=) c.978T>C (p.Phe326=) | |
6 | g.73600405A>T | CA364720032 | SLC17A5 | c.1296T>A (p.Phe432Leu) c.1245T>A (p.Phe415Leu) c.1098T>A (p.Phe366Leu) c.1148T>A (p.Leu383Ter) c.1065T>A (p.Phe355Leu) c.1260-5191T>A (n.1260-5191T>A) c.1317T>A (p.Phe439Leu) c.1209T>A (p.Phe403Leu) c.1137T>A (p.Phe379Leu) c.1293T>A (p.Phe431Leu) c.978T>A (p.Phe326Leu) | |
6 | g.73600407del | CA2695206670 | SLC17A5 | c.1296del (p.Phe432LeufsTer16) c.1245del (p.Phe415LeufsTer16) c.1098del (p.Phe366LeufsTer16) c.1148del (p.Leu383CysfsTer13) c.1065del (p.Phe355LeufsTer16) c.1260-5191del (n.1260-5191del) c.1317del (p.Phe439LeufsTer16) c.1209del (p.Phe403LeufsTer16) c.1137del (p.Phe379LeufsTer16) c.1293del (p.Phe431LeufsTer16) c.978del (p.Phe326LeufsTer16) | |
6 | g.73600406A= | CA1638223896 | SLC17A5 | c.1295T= (p.Phe432=) c.1244T= (p.Phe415=) c.1097T= (p.Phe366=) c.1147T= (p.Leu383=) c.1064T= (p.Phe355=) c.1260-5192T= (n.1260-5192T=) c.1316T= (p.Phe439=) c.1208T= (p.Phe403=) c.1136T= (p.Phe379=) c.1292T= (p.Phe431=) c.977T= (p.Phe326=) | |
6 | g.73600406A>C | CA364720034 | SLC17A5 | c.1295T>G (p.Phe432Cys) c.1244T>G (p.Phe415Cys) c.1097T>G (p.Phe366Cys) c.1147T>G (p.Leu383Val) c.1064T>G (p.Phe355Cys) c.1260-5192T>G (n.1260-5192T>G) c.1316T>G (p.Phe439Cys) c.1208T>G (p.Phe403Cys) c.1136T>G (p.Phe379Cys) c.1292T>G (p.Phe431Cys) c.977T>G (p.Phe326Cys) | |
6 | g.73600406A>G | CA3890296 | SLC17A5 | c.1295T>C (p.Phe432Ser) c.1244T>C (p.Phe415Ser) c.1097T>C (p.Phe366Ser) c.1147T>C (p.Leu383=) c.1064T>C (p.Phe355Ser) c.1260-5192T>C (n.1260-5192T>C) c.1316T>C (p.Phe439Ser) c.1208T>C (p.Phe403Ser) c.1136T>C (p.Phe379Ser) c.1292T>C (p.Phe431Ser) c.977T>C (p.Phe326Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600406A>T | CA364720035 | SLC17A5 | c.1295T>A (p.Phe432Tyr) c.1244T>A (p.Phe415Tyr) c.1097T>A (p.Phe366Tyr) c.1147T>A (p.Leu383Met) c.1064T>A (p.Phe355Tyr) c.1260-5192T>A (n.1260-5192T>A) c.1316T>A (p.Phe439Tyr) c.1208T>A (p.Phe403Tyr) c.1136T>A (p.Phe379Tyr) c.1292T>A (p.Phe431Tyr) c.977T>A (p.Phe326Tyr) | |
6 | g.73600407A>C | CA364720036 | SLC17A5 | c.1294T>G (p.Phe432Val) c.1243T>G (p.Phe415Val) c.1096T>G (p.Phe366Val) c.1146T>G (p.His382Gln) c.1063T>G (p.Phe355Val) c.1260-5193T>G (n.1260-5193T>G) c.1315T>G (p.Phe439Val) c.1207T>G (p.Phe403Val) c.1135T>G (p.Phe379Val) c.1291T>G (p.Phe431Val) c.976T>G (p.Phe326Val) | gnomAD v4 |
6 | g.73600407A>G | CA364720037 | SLC17A5 | c.1294T>C (p.Phe432Leu) c.1243T>C (p.Phe415Leu) c.1096T>C (p.Phe366Leu) c.1146T>C (p.His382=) c.1063T>C (p.Phe355Leu) c.1260-5193T>C (n.1260-5193T>C) c.1315T>C (p.Phe439Leu) c.1207T>C (p.Phe403Leu) c.1135T>C (p.Phe379Leu) c.1291T>C (p.Phe431Leu) c.976T>C (p.Phe326Leu) | |
6 | g.73600407A>T | CA364720038 | SLC17A5 | c.1294T>A (p.Phe432Ile) c.1243T>A (p.Phe415Ile) c.1096T>A (p.Phe366Ile) c.1146T>A (p.His382Gln) c.1063T>A (p.Phe355Ile) c.1260-5193T>A (n.1260-5193T>A) c.1315T>A (p.Phe439Ile) c.1207T>A (p.Phe403Ile) c.1135T>A (p.Phe379Ile) c.1291T>A (p.Phe431Ile) c.976T>A (p.Phe326Ile) | |
6 | g.73600408T>A | CA450912671 | SLC17A5 | c.1293A>T (p.Thr431=) c.1242A>T (p.Thr414=) c.1095A>T (p.Thr365=) c.1145A>T (p.His382Leu) c.1062A>T (p.Thr354=) c.1260-5194A>T (n.1260-5194A>T) c.1314A>T (p.Thr438=) c.1206A>T (p.Thr402=) c.1134A>T (p.Thr378=) c.1290A>T (p.Thr430=) c.975A>T (p.Thr325=) | |
6 | g.73600408T>C | CA450912673 | SLC17A5 | c.1293A>G (p.Thr431=) c.1242A>G (p.Thr414=) c.1095A>G (p.Thr365=) c.1145A>G (p.His382Arg) c.1062A>G (p.Thr354=) c.1260-5194A>G (n.1260-5194A>G) c.1314A>G (p.Thr438=) c.1206A>G (p.Thr402=) c.1134A>G (p.Thr378=) c.1290A>G (p.Thr430=) c.975A>G (p.Thr325=) | ClinVar |
6 | g.73600408T>G | CA450912674 | SLC17A5 | c.1293A>C (p.Thr431=) c.1242A>C (p.Thr414=) c.1095A>C (p.Thr365=) c.1145A>C (p.His382Pro) c.1062A>C (p.Thr354=) c.1260-5194A>C (n.1260-5194A>C) c.1314A>C (p.Thr438=) c.1206A>C (p.Thr402=) c.1134A>C (p.Thr378=) c.1290A>C (p.Thr430=) c.975A>C (p.Thr325=) | |
6 | g.73600409G>A | CA364720039 | SLC17A5 | c.1292C>T (p.Thr431Ile) c.1241C>T (p.Thr414Ile) c.1094C>T (p.Thr365Ile) c.1144C>T (p.His382Tyr) c.1061C>T (p.Thr354Ile) c.1260-5195C>T (n.1260-5195C>T) c.1313C>T (p.Thr438Ile) c.1205C>T (p.Thr402Ile) c.1133C>T (p.Thr378Ile) c.1289C>T (p.Thr430Ile) c.974C>T (p.Thr325Ile) | |
6 | g.73600409G>C | CA364720040 | SLC17A5 | c.1292C>G (p.Thr431Arg) c.1241C>G (p.Thr414Arg) c.1094C>G (p.Thr365Arg) c.1144C>G (p.His382Asp) c.1061C>G (p.Thr354Arg) c.1260-5195C>G (n.1260-5195C>G) c.1313C>G (p.Thr438Arg) c.1205C>G (p.Thr402Arg) c.1133C>G (p.Thr378Arg) c.1289C>G (p.Thr430Arg) c.974C>G (p.Thr325Arg) | |
6 | g.73600409G>T | CA364720041 | SLC17A5 | c.1292C>A (p.Thr431Lys) c.1241C>A (p.Thr414Lys) c.1094C>A (p.Thr365Lys) c.1144C>A (p.His382Asn) c.1061C>A (p.Thr354Lys) c.1260-5195C>A (n.1260-5195C>A) c.1313C>A (p.Thr438Lys) c.1205C>A (p.Thr402Lys) c.1133C>A (p.Thr378Lys) c.1289C>A (p.Thr430Lys) c.974C>A (p.Thr325Lys) | |
6 | g.73600410T>A | CA364720044 | SLC17A5 | c.1291A>T (p.Thr431Ser) c.1240A>T (p.Thr414Ser) c.1093A>T (p.Thr365Ser) c.1143A>T (p.Ile381=) c.1060A>T (p.Thr354Ser) c.1260-5196A>T (n.1260-5196A>T) c.1312A>T (p.Thr438Ser) c.1204A>T (p.Thr402Ser) c.1132A>T (p.Thr378Ser) c.1288A>T (p.Thr430Ser) c.973A>T (p.Thr325Ser) | |
6 | g.73600410T>C | CA364720042 | SLC17A5 | c.1291A>G (p.Thr431Ala) c.1240A>G (p.Thr414Ala) c.1093A>G (p.Thr365Ala) c.1143A>G (p.Ile381Met) c.1060A>G (p.Thr354Ala) c.1260-5196A>G (n.1260-5196A>G) c.1312A>G (p.Thr438Ala) c.1204A>G (p.Thr402Ala) c.1132A>G (p.Thr378Ala) c.1288A>G (p.Thr430Ala) c.973A>G (p.Thr325Ala) | dbSNP gnomAD v4 |
6 | g.73600410T>G | CA364720043 | SLC17A5 | c.1291A>C (p.Thr431Pro) c.1240A>C (p.Thr414Pro) c.1093A>C (p.Thr365Pro) c.1143A>C (p.Ile381=) c.1060A>C (p.Thr354Pro) c.1260-5196A>C (n.1260-5196A>C) c.1312A>C (p.Thr438Pro) c.1204A>C (p.Thr402Pro) c.1132A>C (p.Thr378Pro) c.1288A>C (p.Thr430Pro) c.973A>C (p.Thr325Pro) | |
6 | g.73600410T= | CA1638223902 | SLC17A5 | c.1291A= (p.Thr431=) c.1240A= (p.Thr414=) c.1093A= (p.Thr365=) c.1143A= (p.Ile381=) c.1060A= (p.Thr354=) c.1260-5196A= (n.1260-5196A=) c.1312A= (p.Thr438=) c.1204A= (p.Thr402=) c.1132A= (p.Thr378=) c.1288A= (p.Thr430=) c.973A= (p.Thr325=) | |
6 | g.73600411A>C | CA364720045 | SLC17A5 | c.1290T>G (p.Asn430Lys) c.1239T>G (p.Asn413Lys) c.1092T>G (p.Asn364Lys) c.1142T>G (p.Ile381Arg) c.1059T>G (p.Asn353Lys) c.1260-5197T>G (n.1260-5197T>G) c.1311T>G (p.Asn437Lys) c.1203T>G (p.Asn401Lys) c.1131T>G (p.Asn377Lys) c.1287T>G (p.Asn429Lys) c.972T>G (p.Asn324Lys) | |
6 | g.73600411A>G | CA450912681 | SLC17A5 | c.1290T>C (p.Asn430=) c.1239T>C (p.Asn413=) c.1092T>C (p.Asn364=) c.1142T>C (p.Ile381Thr) c.1059T>C (p.Asn353=) c.1260-5197T>C (n.1260-5197T>C) c.1311T>C (p.Asn437=) c.1203T>C (p.Asn401=) c.1131T>C (p.Asn377=) c.1287T>C (p.Asn429=) c.972T>C (p.Asn324=) | |
6 | g.73600411A>T | CA364720046 | SLC17A5 | c.1290T>A (p.Asn430Lys) c.1239T>A (p.Asn413Lys) c.1092T>A (p.Asn364Lys) c.1142T>A (p.Ile381Lys) c.1059T>A (p.Asn353Lys) c.1260-5197T>A (n.1260-5197T>A) c.1311T>A (p.Asn437Lys) c.1203T>A (p.Asn401Lys) c.1131T>A (p.Asn377Lys) c.1287T>A (p.Asn429Lys) c.972T>A (p.Asn324Lys) | |
6 | g.73600412T>A | CA364720047 | SLC17A5 | c.1289A>T (p.Asn430Ile) c.1238A>T (p.Asn413Ile) c.1091A>T (p.Asn364Ile) c.1141A>T (p.Ile381Leu) c.1058A>T (p.Asn353Ile) c.1260-5198A>T (n.1260-5198A>T) c.1310A>T (p.Asn437Ile) c.1202A>T (p.Asn401Ile) c.1130A>T (p.Asn377Ile) c.1286A>T (p.Asn429Ile) c.971A>T (p.Asn324Ile) | |
6 | g.73600412T>C | CA364720048 | SLC17A5 | c.1289A>G (p.Asn430Ser) c.1238A>G (p.Asn413Ser) c.1091A>G (p.Asn364Ser) c.1141A>G (p.Ile381Val) c.1058A>G (p.Asn353Ser) c.1260-5198A>G (n.1260-5198A>G) c.1310A>G (p.Asn437Ser) c.1202A>G (p.Asn401Ser) c.1130A>G (p.Asn377Ser) c.1286A>G (p.Asn429Ser) c.971A>G (p.Asn324Ser) | |
6 | g.73600412T>G | CA364720049 | SLC17A5 | c.1289A>C (p.Asn430Thr) c.1238A>C (p.Asn413Thr) c.1091A>C (p.Asn364Thr) c.1141A>C (p.Ile381Leu) c.1058A>C (p.Asn353Thr) c.1260-5198A>C (n.1260-5198A>C) c.1310A>C (p.Asn437Thr) c.1202A>C (p.Asn401Thr) c.1130A>C (p.Asn377Thr) c.1286A>C (p.Asn429Thr) c.971A>C (p.Asn324Thr) | |
6 | g.73600413T>A | CA364720052 | SLC17A5 | c.1288A>T (p.Asn430Tyr) c.1237A>T (p.Asn413Tyr) c.1090A>T (p.Asn364Tyr) c.1140A>T (p.Gln380His) c.1057A>T (p.Asn353Tyr) c.1260-5199A>T (n.1260-5199A>T) c.1309A>T (p.Asn437Tyr) c.1201A>T (p.Asn401Tyr) c.1129A>T (p.Asn377Tyr) c.1285A>T (p.Asn429Tyr) c.970A>T (p.Asn324Tyr) | |
6 | g.73600413T>C | CA364720050 | SLC17A5 | c.1288A>G (p.Asn430Asp) c.1237A>G (p.Asn413Asp) c.1090A>G (p.Asn364Asp) c.1140A>G (p.Gln380=) c.1057A>G (p.Asn353Asp) c.1260-5199A>G (n.1260-5199A>G) c.1309A>G (p.Asn437Asp) c.1201A>G (p.Asn401Asp) c.1129A>G (p.Asn377Asp) c.1285A>G (p.Asn429Asp) c.970A>G (p.Asn324Asp) | gnomAD v4 |
6 | g.73600413T>G | CA364720051 | SLC17A5 | c.1288A>C (p.Asn430His) c.1237A>C (p.Asn413His) c.1090A>C (p.Asn364His) c.1140A>C (p.Gln380His) c.1057A>C (p.Asn353His) c.1260-5199A>C (n.1260-5199A>C) c.1309A>C (p.Asn437His) c.1201A>C (p.Asn401His) c.1129A>C (p.Asn377His) c.1285A>C (p.Asn429His) c.970A>C (p.Asn324His) | dbSNP gnomAD v2 |
6 | g.73600413T= | CA1638223908 | SLC17A5 | c.1288A= (p.Asn430=) c.1237A= (p.Asn413=) c.1090A= (p.Asn364=) c.1140A= (p.Gln380=) c.1057A= (p.Asn353=) c.1260-5199A= (n.1260-5199A=) c.1309A= (p.Asn437=) c.1201A= (p.Asn401=) c.1129A= (p.Asn377=) c.1285A= (p.Asn429=) c.970A= (p.Asn324=) | |
6 | g.73600414T>A | CA450912688 | SLC17A5 | c.1287A>T (p.Thr429=) c.1236A>T (p.Thr412=) c.1089A>T (p.Thr363=) c.1139A>T (p.Gln380Leu) c.1056A>T (p.Thr352=) c.1260-5200A>T (n.1260-5200A>T) c.1308A>T (p.Thr436=) c.1200A>T (p.Thr400=) c.1128A>T (p.Thr376=) c.1284A>T (p.Thr428=) c.969A>T (p.Thr323=) | |
6 | g.73600414T>C | CA450912690 | SLC17A5 | c.1287A>G (p.Thr429=) c.1236A>G (p.Thr412=) c.1089A>G (p.Thr363=) c.1139A>G (p.Gln380Arg) c.1056A>G (p.Thr352=) c.1260-5200A>G (n.1260-5200A>G) c.1308A>G (p.Thr436=) c.1200A>G (p.Thr400=) c.1128A>G (p.Thr376=) c.1284A>G (p.Thr428=) c.969A>G (p.Thr323=) | ClinVar gnomAD v4 |
6 | g.73600414T>G | CA450912691 | SLC17A5 | c.1287A>C (p.Thr429=) c.1236A>C (p.Thr412=) c.1089A>C (p.Thr363=) c.1139A>C (p.Gln380Pro) c.1056A>C (p.Thr352=) c.1260-5200A>C (n.1260-5200A>C) c.1308A>C (p.Thr436=) c.1200A>C (p.Thr400=) c.1128A>C (p.Thr376=) c.1284A>C (p.Thr428=) c.969A>C (p.Thr323=) | |
6 | g.73600415G>A | CA364720053 | SLC17A5 | c.1286C>T (p.Thr429Ile) c.1235C>T (p.Thr412Ile) c.1088C>T (p.Thr363Ile) c.1138C>T (p.Gln380Ter) c.1055C>T (p.Thr352Ile) c.1260-5201C>T (n.1260-5201C>T) c.1307C>T (p.Thr436Ile) c.1199C>T (p.Thr400Ile) c.1127C>T (p.Thr376Ile) c.1283C>T (p.Thr428Ile) c.968C>T (p.Thr323Ile) | dbSNP |
6 | g.73600415G>C | CA364720054 | SLC17A5 | c.1286C>G (p.Thr429Arg) c.1235C>G (p.Thr412Arg) c.1088C>G (p.Thr363Arg) c.1138C>G (p.Gln380Glu) c.1055C>G (p.Thr352Arg) c.1260-5201C>G (n.1260-5201C>G) c.1307C>G (p.Thr436Arg) c.1199C>G (p.Thr400Arg) c.1127C>G (p.Thr376Arg) c.1283C>G (p.Thr428Arg) c.968C>G (p.Thr323Arg) | |
6 | g.73600415G= | CA1638223911 | SLC17A5 | c.1286C= (p.Thr429=) c.1235C= (p.Thr412=) c.1088C= (p.Thr363=) c.1138C= (p.Gln380=) c.1055C= (p.Thr352=) c.1260-5201C= (n.1260-5201C=) c.1307C= (p.Thr436=) c.1199C= (p.Thr400=) c.1127C= (p.Thr376=) c.1283C= (p.Thr428=) c.968C= (p.Thr323=) | |
6 | g.73600415G>T | CA364720055 | SLC17A5 | c.1286C>A (p.Thr429Lys) c.1235C>A (p.Thr412Lys) c.1088C>A (p.Thr363Lys) c.1138C>A (p.Gln380Lys) c.1055C>A (p.Thr352Lys) c.1260-5201C>A (n.1260-5201C>A) c.1307C>A (p.Thr436Lys) c.1199C>A (p.Thr400Lys) c.1127C>A (p.Thr376Lys) c.1283C>A (p.Thr428Lys) c.968C>A (p.Thr323Lys) | |
6 | g.73600416T>A | CA364720056 | SLC17A5 | c.1285A>T (p.Thr429Ser) c.1234A>T (p.Thr412Ser) c.1087A>T (p.Thr363Ser) c.1137A>T (p.Ser379=) c.1054A>T (p.Thr352Ser) c.1260-5202A>T (n.1260-5202A>T) c.1306A>T (p.Thr436Ser) c.1198A>T (p.Thr400Ser) c.1126A>T (p.Thr376Ser) c.1282A>T (p.Thr428Ser) c.967A>T (p.Thr323Ser) | |
6 | g.73600416T>C | CA364720057 | SLC17A5 | c.1285A>G (p.Thr429Ala) c.1234A>G (p.Thr412Ala) c.1087A>G (p.Thr363Ala) c.1137A>G (p.Ser379=) c.1054A>G (p.Thr352Ala) c.1260-5202A>G (n.1260-5202A>G) c.1306A>G (p.Thr436Ala) c.1198A>G (p.Thr400Ala) c.1126A>G (p.Thr376Ala) c.1282A>G (p.Thr428Ala) c.967A>G (p.Thr323Ala) | |
6 | g.73600416T>G | CA364720058 | SLC17A5 | c.1285A>C (p.Thr429Pro) c.1234A>C (p.Thr412Pro) c.1087A>C (p.Thr363Pro) c.1137A>C (p.Ser379=) c.1054A>C (p.Thr352Pro) c.1260-5202A>C (n.1260-5202A>C) c.1306A>C (p.Thr436Pro) c.1198A>C (p.Thr400Pro) c.1126A>C (p.Thr376Pro) c.1282A>C (p.Thr428Pro) c.967A>C (p.Thr323Pro) | |
6 | g.73600417G>A | CA450912697 | SLC17A5 | c.1284C>T (p.Ile428=) c.1233C>T (p.Ile411=) c.1086C>T (p.Ile362=) c.1136C>T (p.Ser379Leu) c.1053C>T (p.Ile351=) c.1260-5203C>T (n.1260-5203C>T) c.1305C>T (p.Ile435=) c.1197C>T (p.Ile399=) c.1125C>T (p.Ile375=) c.1281C>T (p.Ile427=) c.966C>T (p.Ile322=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.73600417G>C | CA364720059 | SLC17A5 | c.1284C>G (p.Ile428Met) c.1233C>G (p.Ile411Met) c.1086C>G (p.Ile362Met) c.1136C>G (p.Ser379Ter) c.1053C>G (p.Ile351Met) c.1260-5203C>G (n.1260-5203C>G) c.1305C>G (p.Ile435Met) c.1197C>G (p.Ile399Met) c.1125C>G (p.Ile375Met) c.1281C>G (p.Ile427Met) c.966C>G (p.Ile322Met) | |
6 | g.73600417G= | CA1638223913 | SLC17A5 | c.1284C= (p.Ile428=) c.1233C= (p.Ile411=) c.1086C= (p.Ile362=) c.1136C= (p.Ser379=) c.1053C= (p.Ile351=) c.1260-5203C= (n.1260-5203C=) c.1305C= (p.Ile435=) c.1197C= (p.Ile399=) c.1125C= (p.Ile375=) c.1281C= (p.Ile427=) c.966C= (p.Ile322=) | |
6 | g.73600417G>T | CA450912698 | SLC17A5 | c.1284C>A (p.Ile428=) c.1233C>A (p.Ile411=) c.1086C>A (p.Ile362=) c.1136C>A (p.Ser379Ter) c.1053C>A (p.Ile351=) c.1260-5203C>A (n.1260-5203C>A) c.1305C>A (p.Ile435=) c.1197C>A (p.Ile399=) c.1125C>A (p.Ile375=) c.1281C>A (p.Ile427=) c.966C>A (p.Ile322=) | |
6 | g.73600418A>C | CA364720060 | SLC17A5 | c.1283T>G (p.Ile428Ser) c.1232T>G (p.Ile411Ser) c.1085T>G (p.Ile362Ser) c.1135T>G (p.Ser379Ala) c.1052T>G (p.Ile351Ser) c.1260-5204T>G (n.1260-5204T>G) c.1304T>G (p.Ile435Ser) c.1196T>G (p.Ile399Ser) c.1124T>G (p.Ile375Ser) c.1280T>G (p.Ile427Ser) c.965T>G (p.Ile322Ser) | |
6 | g.73600418A>G | CA364720061 | SLC17A5 | c.1283T>C (p.Ile428Thr) c.1232T>C (p.Ile411Thr) c.1085T>C (p.Ile362Thr) c.1135T>C (p.Ser379Pro) c.1052T>C (p.Ile351Thr) c.1260-5204T>C (n.1260-5204T>C) c.1304T>C (p.Ile435Thr) c.1196T>C (p.Ile399Thr) c.1124T>C (p.Ile375Thr) c.1280T>C (p.Ile427Thr) c.965T>C (p.Ile322Thr) | |
6 | g.73600418A>T | CA364720062 | SLC17A5 | c.1283T>A (p.Ile428Asn) c.1232T>A (p.Ile411Asn) c.1085T>A (p.Ile362Asn) c.1135T>A (p.Ser379Thr) c.1052T>A (p.Ile351Asn) c.1260-5204T>A (n.1260-5204T>A) c.1304T>A (p.Ile435Asn) c.1196T>A (p.Ile399Asn) c.1124T>A (p.Ile375Asn) c.1280T>A (p.Ile427Asn) c.965T>A (p.Ile322Asn) |