Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.171005259G>T | CA2668525491 | SLC2A2 | c.963+26C>A (n.963+26C>A) c.*430+26C>A (n.*430+26C>A) c.606+26C>A (n.606+26C>A) c.444+26C>A (n.444+26C>A) c.918+26C>A (n.918+26C>A) c.744+26C>A (n.744+26C>A) | gnomAD v4 |
3 | g.171005261G>T | CA2668525492 | SLC2A2 | c.963+24C>A (n.963+24C>A) c.*430+24C>A (n.*430+24C>A) c.606+24C>A (n.606+24C>A) c.444+24C>A (n.444+24C>A) c.918+24C>A (n.918+24C>A) c.744+24C>A (n.744+24C>A) | gnomAD v4 |
3 | g.171005265G>A | CA2702537 | SLC2A2 | c.963+20C>T (n.963+20C>T) c.*430+20C>T (n.*430+20C>T) c.606+20C>T (n.606+20C>T) c.444+20C>T (n.444+20C>T) c.918+20C>T (n.918+20C>T) c.744+20C>T (n.744+20C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005265G>C | CA2702536 | SLC2A2 | c.963+20C>G (n.963+20C>G) c.*430+20C>G (n.*430+20C>G) c.606+20C>G (n.606+20C>G) c.444+20C>G (n.444+20C>G) c.918+20C>G (n.918+20C>G) c.744+20C>G (n.744+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005265G= | CA1420164761 | SLC2A2 | c.963+20C= (n.963+20C=) c.*430+20C= (n.*430+20C=) c.606+20C= (n.606+20C=) c.444+20C= (n.444+20C=) c.918+20C= (n.918+20C=) c.744+20C= (n.744+20C=) | |
3 | g.171005265_171005266delinsGT | CA1420164762 | SLC2A2 | c.963+19_963+20delinsAC (n.963+19_963+20delinsAC) c.*430+19_*430+20delinsAC (n.*430+19_*430+20delinsAC) c.606+19_606+20delinsAC (n.606+19_606+20delinsAC) c.444+19_444+20delinsAC (n.444+19_444+20delinsAC) c.918+19_918+20delinsAC (n.918+19_918+20delinsAC) c.744+19_744+20delinsAC (n.744+19_744+20delinsAC) | |
3 | g.171005266del | CA547971384 | SLC2A2 | c.963+19del (n.963+19del) c.*430+19del (n.*430+19del) c.606+19del (n.606+19del) c.444+19del (n.444+19del) c.918+19del (n.918+19del) c.744+19del (n.744+19del) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.171005267G>A | CA2702538 | SLC2A2 | c.963+18C>T (n.963+18C>T) c.*430+18C>T (n.*430+18C>T) c.606+18C>T (n.606+18C>T) c.444+18C>T (n.444+18C>T) c.918+18C>T (n.918+18C>T) c.744+18C>T (n.744+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005267G= | CA1420164763 | SLC2A2 | c.963+18C= (n.963+18C=) c.*430+18C= (n.*430+18C=) c.606+18C= (n.606+18C=) c.444+18C= (n.444+18C=) c.918+18C= (n.918+18C=) c.744+18C= (n.744+18C=) | |
3 | g.171005267G>T | CA2668525494 | SLC2A2 | c.963+18C>A (n.963+18C>A) c.*430+18C>A (n.*430+18C>A) c.606+18C>A (n.606+18C>A) c.444+18C>A (n.444+18C>A) c.918+18C>A (n.918+18C>A) c.744+18C>A (n.744+18C>A) | gnomAD v4 |
3 | g.171005269del | CA2668525493 | SLC2A2 | c.963+18del (n.963+18del) c.*430+18del (n.*430+18del) c.606+18del (n.606+18del) c.444+18del (n.444+18del) c.918+18del (n.918+18del) c.744+18del (n.744+18del) | gnomAD v4 |
3 | g.171005268G>T | CA2668525495 | SLC2A2 | c.963+17C>A (n.963+17C>A) c.*430+17C>A (n.*430+17C>A) c.606+17C>A (n.606+17C>A) c.444+17C>A (n.444+17C>A) c.918+17C>A (n.918+17C>A) c.744+17C>A (n.744+17C>A) | gnomAD v4 |
3 | g.171005269G>A | CA2702539 | SLC2A2 | c.963+16C>T (n.963+16C>T) c.*430+16C>T (n.*430+16C>T) c.606+16C>T (n.606+16C>T) c.444+16C>T (n.444+16C>T) c.918+16C>T (n.918+16C>T) c.744+16C>T (n.744+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.171005269G>C | CA2668525496 | SLC2A2 | c.963+16C>G (n.963+16C>G) c.*430+16C>G (n.*430+16C>G) c.606+16C>G (n.606+16C>G) c.444+16C>G (n.444+16C>G) c.918+16C>G (n.918+16C>G) c.744+16C>G (n.744+16C>G) | gnomAD v4 |
3 | g.171005269G= | CA1420164764 | SLC2A2 | c.963+16C= (n.963+16C=) c.*430+16C= (n.*430+16C=) c.606+16C= (n.606+16C=) c.444+16C= (n.444+16C=) c.918+16C= (n.918+16C=) c.744+16C= (n.744+16C=) | |
3 | g.171005270T>C | CA2702540 | SLC2A2 | c.963+15A>G (n.963+15A>G) c.*430+15A>G (n.*430+15A>G) c.606+15A>G (n.606+15A>G) c.444+15A>G (n.444+15A>G) c.918+15A>G (n.918+15A>G) c.744+15A>G (n.744+15A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.171005270T= | CA1420164765 | SLC2A2 | c.963+15A= (n.963+15A=) c.*430+15A= (n.*430+15A=) c.606+15A= (n.606+15A=) c.444+15A= (n.444+15A=) c.918+15A= (n.918+15A=) c.744+15A= (n.744+15A=) | |
3 | g.171005271G>A | CA2702541 | SLC2A2 | c.963+14C>T (n.963+14C>T) c.*430+14C>T (n.*430+14C>T) c.606+14C>T (n.606+14C>T) c.444+14C>T (n.444+14C>T) c.918+14C>T (n.918+14C>T) c.744+14C>T (n.744+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005271G= | CA1420164766 | SLC2A2 | c.963+14C= (n.963+14C=) c.*430+14C= (n.*430+14C=) c.606+14C= (n.606+14C=) c.444+14C= (n.444+14C=) c.918+14C= (n.918+14C=) c.744+14C= (n.744+14C=) | |
3 | g.171005271G>T | CA2577957694 | SLC2A2 | c.963+14C>A (n.963+14C>A) c.*430+14C>A (n.*430+14C>A) c.606+14C>A (n.606+14C>A) c.444+14C>A (n.444+14C>A) c.918+14C>A (n.918+14C>A) c.744+14C>A (n.744+14C>A) | |
3 | g.171005272T>C | CA2702542 | SLC2A2 | c.963+13A>G (n.963+13A>G) c.*430+13A>G (n.*430+13A>G) c.606+13A>G (n.606+13A>G) c.444+13A>G (n.444+13A>G) c.918+13A>G (n.918+13A>G) c.744+13A>G (n.744+13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.171005272T= | CA1420164767 | SLC2A2 | c.963+13A= (n.963+13A=) c.*430+13A= (n.*430+13A=) c.606+13A= (n.606+13A=) c.444+13A= (n.444+13A=) c.918+13A= (n.918+13A=) c.744+13A= (n.744+13A=) | |
3 | g.171005274C>A | CA2759361815 | SLC2A2 | c.963+11G>T (n.963+11G>T) c.*430+11G>T (n.*430+11G>T) c.606+11G>T (n.606+11G>T) c.444+11G>T (n.444+11G>T) c.918+11G>T (n.918+11G>T) c.744+11G>T (n.744+11G>T) | |
3 | g.171005280C= | CA1420164768 | SLC2A2 | c.963+5G= (n.963+5G=) c.*430+5G= (n.*430+5G=) c.606+5G= (n.606+5G=) c.444+5G= (n.444+5G=) c.918+5G= (n.918+5G=) c.744+5G= (n.744+5G=) | |
3 | g.171005280C>G | CA87709304 | SLC2A2 | c.963+5G>C (n.963+5G>C) c.*430+5G>C (n.*430+5G>C) c.606+5G>C (n.606+5G>C) c.444+5G>C (n.444+5G>C) c.918+5G>C (n.918+5G>C) c.744+5G>C (n.744+5G>C) | dbSNP gnomAD v4 |
3 | g.171005280C>T | CA2702543 | SLC2A2 | c.963+5G>A (n.963+5G>A) c.*430+5G>A (n.*430+5G>A) c.606+5G>A (n.606+5G>A) c.444+5G>A (n.444+5G>A) c.918+5G>A (n.918+5G>A) c.744+5G>A (n.744+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005281T>G | CA87709313 | SLC2A2 | c.963+4A>C (n.963+4A>C) c.*430+4A>C (n.*430+4A>C) c.606+4A>C (n.606+4A>C) c.444+4A>C (n.444+4A>C) c.918+4A>C (n.918+4A>C) c.744+4A>C (n.744+4A>C) | dbSNP gnomAD v4 |
3 | g.171005281T= | CA1420164769 | SLC2A2 | c.963+4A= (n.963+4A=) c.*430+4A= (n.*430+4A=) c.606+4A= (n.606+4A=) c.444+4A= (n.444+4A=) c.918+4A= (n.918+4A=) c.744+4A= (n.744+4A=) | |
3 | g.171005281_171005288delinsTTACGCCA | CA1420164770 | SLC2A2 | c.960_963+4delinsTGGCGTAA c.*427_*430+4delinsTGGCGTAA c.603_606+4delinsTGGCGTAA c.441_444+4delinsTGGCGTAA c.915_918+4delinsTGGCGTAA c.741_744+4delinsTGGCGTAA | |
3 | g.171005282T>C | CA2668525497 | SLC2A2 | c.963+3A>G (n.963+3A>G) c.*430+3A>G (n.*430+3A>G) c.606+3A>G (n.606+3A>G) c.444+3A>G (n.444+3A>G) c.918+3A>G (n.918+3A>G) c.744+3A>G (n.744+3A>G) | gnomAD v4 |
3 | g.171005283_171005289del | CA1420164771 | SLC2A2 | c.960_963+3del c.*427_*430+3del c.603_606+3del c.441_444+3del c.915_918+3del c.741_744+3del | dbSNP |
3 | g.171005283A>C | CA355488008 | SLC2A2 | c.963+2T>G (n.963+2T>G) c.*430+2T>G (n.*430+2T>G) c.606+2T>G (n.606+2T>G) c.444+2T>G (n.444+2T>G) c.918+2T>G (n.918+2T>G) c.744+2T>G (n.744+2T>G) | |
3 | g.171005283A>G | CA355488009 | SLC2A2 | c.963+2T>C (n.963+2T>C) c.*430+2T>C (n.*430+2T>C) c.606+2T>C (n.606+2T>C) c.444+2T>C (n.444+2T>C) c.918+2T>C (n.918+2T>C) c.744+2T>C (n.744+2T>C) | |
3 | g.171005283A>T | CA355488010 | SLC2A2 | c.963+2T>A (n.963+2T>A) c.*430+2T>A (n.*430+2T>A) c.606+2T>A (n.606+2T>A) c.444+2T>A (n.444+2T>A) c.918+2T>A (n.918+2T>A) c.744+2T>A (n.744+2T>A) | |
3 | g.171005283_171005284delinsAC | CA1420164772 | SLC2A2 | c.963+1_963+2delinsGT (n.963+1_963+2delinsGT) c.*430+1_*430+2delinsGT (n.*430+1_*430+2delinsGT) c.606+1_606+2delinsGT (n.606+1_606+2delinsGT) c.444+1_444+2delinsGT (n.444+1_444+2delinsGT) c.918+1_918+2delinsGT (n.918+1_918+2delinsGT) c.744+1_744+2delinsGT (n.744+1_744+2delinsGT) | |
3 | g.171005284del | CA902472188 | SLC2A2 | c.963+1del (n.963+1del) c.*430+1del (n.*430+1del) c.606+1del (n.606+1del) c.444+1del (n.444+1del) c.918+1del (n.918+1del) c.744+1del (n.744+1del) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.171005284C>A | CA355488012 | SLC2A2 | c.963+1G>T (n.963+1G>T) c.*430+1G>T (n.*430+1G>T) c.606+1G>T (n.606+1G>T) c.444+1G>T (n.444+1G>T) c.918+1G>T (n.918+1G>T) c.744+1G>T (n.744+1G>T) | |
3 | g.171005284C= | CA1420164773 | SLC2A2 | c.963+1G= (n.963+1G=) c.*430+1G= (n.*430+1G=) c.606+1G= (n.606+1G=) c.444+1G= (n.444+1G=) c.918+1G= (n.918+1G=) c.744+1G= (n.744+1G=) | |
3 | g.171005284C>G | CA355488011 | SLC2A2 | c.963+1G>C (n.963+1G>C) c.*430+1G>C (n.*430+1G>C) c.606+1G>C (n.606+1G>C) c.444+1G>C (n.444+1G>C) c.918+1G>C (n.918+1G>C) c.744+1G>C (n.744+1G>C) | |
3 | g.171005284C>T | CA2702544 | SLC2A2 | c.963+1G>A (n.963+1G>A) c.*430+1G>A (n.*430+1G>A) c.606+1G>A (n.606+1G>A) c.444+1G>A (n.444+1G>A) c.918+1G>A (n.918+1G>A) c.744+1G>A (n.744+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.171005285G>A | CA2702545 | SLC2A2 | c.963C>T (p.Gly321=) c.*430C>T (n.*430C>T) c.606C>T (p.Gly202=) c.444C>T (p.Gly148=) c.918C>T (p.Gly306=) c.744C>T (p.Gly248=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005285G>C | CA87709319 | SLC2A2 | c.963C>G (p.Gly321=) c.*430C>G (n.*430C>G) c.606C>G (p.Gly202=) c.444C>G (p.Gly148=) c.918C>G (p.Gly306=) c.744C>G (p.Gly248=) | dbSNP |
3 | g.171005285G= | CA1420164774 | SLC2A2 | c.963C= (p.Gly321=) c.*430C= (n.*430C=) c.606C= (p.Gly202=) c.444C= (p.Gly148=) c.918C= (p.Gly306=) c.744C= (p.Gly248=) | |
3 | g.171005285G>T | CA2702546 | SLC2A2 | c.963C>A (p.Gly321=) c.*430C>A (n.*430C>A) c.606C>A (p.Gly202=) c.444C>A (p.Gly148=) c.918C>A (p.Gly306=) c.744C>A (p.Gly248=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.171005286C>A | CA355488013 | SLC2A2 | c.962G>T (p.Gly321Val) c.*429G>T (n.*429G>T) c.605G>T (p.Gly202Val) c.443G>T (p.Gly148Val) c.917G>T (p.Gly306Val) c.743G>T (p.Gly248Val) | |
3 | g.171005286C>G | CA355488014 | SLC2A2 | c.962G>C (p.Gly321Ala) c.*429G>C (n.*429G>C) c.605G>C (p.Gly202Ala) c.443G>C (p.Gly148Ala) c.917G>C (p.Gly306Ala) c.743G>C (p.Gly248Ala) | |
3 | g.171005286C>T | CA355488015 | SLC2A2 | c.962G>A (p.Gly321Asp) c.*429G>A (n.*429G>A) c.605G>A (p.Gly202Asp) c.443G>A (p.Gly148Asp) c.917G>A (p.Gly306Asp) c.743G>A (p.Gly248Asp) | |
3 | g.171005287C>A | CA2702547 | SLC2A2 | c.961G>T (p.Gly321Cys) c.*428G>T (n.*428G>T) c.604G>T (p.Gly202Cys) c.442G>T (p.Gly148Cys) c.916G>T (p.Gly306Cys) c.742G>T (p.Gly248Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005287C= | CA1420164775 | SLC2A2 | c.961G= (p.Gly321=) c.*428G= (n.*428G=) c.604G= (p.Gly202=) c.442G= (p.Gly148=) c.916G= (p.Gly306=) c.742G= (p.Gly248=) | |
3 | g.171005287C>G | CA355488016 | SLC2A2 | c.961G>C (p.Gly321Arg) c.*428G>C (n.*428G>C) c.604G>C (p.Gly202Arg) c.442G>C (p.Gly148Arg) c.916G>C (p.Gly306Arg) c.742G>C (p.Gly248Arg) | |
3 | g.171005287C>T | CA355488017 | SLC2A2 | c.961G>A (p.Gly321Ser) c.*428G>A (n.*428G>A) c.604G>A (p.Gly202Ser) c.442G>A (p.Gly148Ser) c.916G>A (p.Gly306Ser) c.742G>A (p.Gly248Ser) | |
3 | g.171005288A>C | CA355488018 | SLC2A2 | c.960T>G (p.Asn320Lys) c.*427T>G (n.*427T>G) c.603T>G (p.Asn201Lys) c.441T>G (p.Asn147Lys) c.915T>G (p.Asn305Lys) c.741T>G (p.Asn247Lys) | |
3 | g.171005288A>G | CA436774622 | SLC2A2 | c.960T>C (p.Asn320=) c.*427T>C (n.*427T>C) c.603T>C (p.Asn201=) c.441T>C (p.Asn147=) c.915T>C (p.Asn305=) c.741T>C (p.Asn247=) | |
3 | g.171005288A>T | CA355488019 | SLC2A2 | c.960T>A (p.Asn320Lys) c.*427T>A (n.*427T>A) c.603T>A (p.Asn201Lys) c.441T>A (p.Asn147Lys) c.915T>A (p.Asn305Lys) c.741T>A (p.Asn247Lys) | |
3 | g.171005289T>A | CA355488020 | SLC2A2 | c.959A>T (p.Asn320Ile) c.*426A>T (n.*426A>T) c.602A>T (p.Asn201Ile) c.440A>T (p.Asn147Ile) c.914A>T (p.Asn305Ile) c.740A>T (p.Asn247Ile) | |
3 | g.171005289T>C | CA87709327 | SLC2A2 | c.959A>G (p.Asn320Ser) c.*426A>G (n.*426A>G) c.602A>G (p.Asn201Ser) c.440A>G (p.Asn147Ser) c.914A>G (p.Asn305Ser) c.740A>G (p.Asn247Ser) | dbSNP |
3 | g.171005289T>G | CA355488021 | SLC2A2 | c.959A>C (p.Asn320Thr) c.*426A>C (n.*426A>C) c.602A>C (p.Asn201Thr) c.440A>C (p.Asn147Thr) c.914A>C (p.Asn305Thr) c.740A>C (p.Asn247Thr) | |
3 | g.171005289T= | CA1420164776 | SLC2A2 | c.959A= (p.Asn320=) c.*426A= (n.*426A=) c.602A= (p.Asn201=) c.440A= (p.Asn147=) c.914A= (p.Asn305=) c.740A= (p.Asn247=) | |
3 | g.171005290T>A | CA355488023 | SLC2A2 | c.958A>T (p.Asn320Tyr) c.*425A>T (n.*425A>T) c.601A>T (p.Asn201Tyr) c.439A>T (p.Asn147Tyr) c.913A>T (p.Asn305Tyr) c.739A>T (p.Asn247Tyr) | |
3 | g.171005290T>C | CA355488024 | SLC2A2 | c.958A>G (p.Asn320Asp) c.*425A>G (n.*425A>G) c.601A>G (p.Asn201Asp) c.439A>G (p.Asn147Asp) c.913A>G (p.Asn305Asp) c.739A>G (p.Asn247Asp) | |
3 | g.171005290T>G | CA355488022 | SLC2A2 | c.958A>C (p.Asn320His) c.*425A>C (n.*425A>C) c.601A>C (p.Asn201His) c.439A>C (p.Asn147His) c.913A>C (p.Asn305His) c.739A>C (p.Asn247His) | |
3 | g.171005291G>A | CA436774623 | SLC2A2 | c.957C>T (p.Ile319=) c.*424C>T (n.*424C>T) c.600C>T (p.Ile200=) c.438C>T (p.Ile146=) c.912C>T (p.Ile304=) c.738C>T (p.Ile246=) | |
3 | g.171005291G>C | CA355488025 | SLC2A2 | c.957C>G (p.Ile319Met) c.*424C>G (n.*424C>G) c.600C>G (p.Ile200Met) c.438C>G (p.Ile146Met) c.912C>G (p.Ile304Met) c.738C>G (p.Ile246Met) | |
3 | g.171005291G>T | CA436774624 | SLC2A2 | c.957C>A (p.Ile319=) c.*424C>A (n.*424C>A) c.600C>A (p.Ile200=) c.438C>A (p.Ile146=) c.912C>A (p.Ile304=) c.738C>A (p.Ile246=) | |
3 | g.171005292A>C | CA355488026 | SLC2A2 | c.956T>G (p.Ile319Ser) c.*423T>G (n.*423T>G) c.599T>G (p.Ile200Ser) c.437T>G (p.Ile146Ser) c.911T>G (p.Ile304Ser) c.737T>G (p.Ile246Ser) | |
3 | g.171005292A>G | CA355488028 | SLC2A2 | c.956T>C (p.Ile319Thr) c.*423T>C (n.*423T>C) c.599T>C (p.Ile200Thr) c.437T>C (p.Ile146Thr) c.911T>C (p.Ile304Thr) c.737T>C (p.Ile246Thr) | |
3 | g.171005292A>T | CA355488027 | SLC2A2 | c.956T>A (p.Ile319Asn) c.*423T>A (n.*423T>A) c.599T>A (p.Ile200Asn) c.437T>A (p.Ile146Asn) c.911T>A (p.Ile304Asn) c.737T>A (p.Ile246Asn) | |
3 | g.171005293T>A | CA355488029 | SLC2A2 | c.955A>T (p.Ile319Phe) c.*422A>T (n.*422A>T) c.598A>T (p.Ile200Phe) c.436A>T (p.Ile146Phe) c.910A>T (p.Ile304Phe) c.736A>T (p.Ile246Phe) | |
3 | g.171005293T>C | CA355488030 | SLC2A2 | c.955A>G (p.Ile319Val) c.*422A>G (n.*422A>G) c.598A>G (p.Ile200Val) c.436A>G (p.Ile146Val) c.910A>G (p.Ile304Val) c.736A>G (p.Ile246Val) | dbSNP |
3 | g.171005293T>G | CA355488031 | SLC2A2 | c.955A>C (p.Ile319Leu) c.*422A>C (n.*422A>C) c.598A>C (p.Ile200Leu) c.436A>C (p.Ile146Leu) c.910A>C (p.Ile304Leu) c.736A>C (p.Ile246Leu) | |
3 | g.171005293T= | CA1420164777 | SLC2A2 | c.955A= (p.Ile319=) c.*422A= (n.*422A=) c.598A= (p.Ile200=) c.436A= (p.Ile146=) c.910A= (p.Ile304=) c.736A= (p.Ile246=) | |
3 | g.171005294T>A | CA436774625 | SLC2A2 | c.954A>T (p.Gly318=) c.*421A>T (n.*421A>T) c.597A>T (p.Gly199=) c.435A>T (p.Gly145=) c.909A>T (p.Gly303=) c.735A>T (p.Gly245=) | |
3 | g.171005294T>C | CA436774626 | SLC2A2 | c.954A>G (p.Gly318=) c.*421A>G (n.*421A>G) c.597A>G (p.Gly199=) c.435A>G (p.Gly145=) c.909A>G (p.Gly303=) c.735A>G (p.Gly245=) | |
3 | g.171005294T>G | CA436774627 | SLC2A2 | c.954A>C (p.Gly318=) c.*421A>C (n.*421A>C) c.597A>C (p.Gly199=) c.435A>C (p.Gly145=) c.909A>C (p.Gly303=) c.735A>C (p.Gly245=) | |
3 | g.171005295C>A | CA355488032 | SLC2A2 | c.953G>T (p.Gly318Val) c.*420G>T (n.*420G>T) c.596G>T (p.Gly199Val) c.434G>T (p.Gly145Val) c.908G>T (p.Gly303Val) c.734G>T (p.Gly245Val) | |
3 | g.171005295C>G | CA355488033 | SLC2A2 | c.953G>C (p.Gly318Ala) c.*420G>C (n.*420G>C) c.596G>C (p.Gly199Ala) c.434G>C (p.Gly145Ala) c.908G>C (p.Gly303Ala) c.734G>C (p.Gly245Ala) | |
3 | g.171005295C>T | CA355488034 | SLC2A2 | c.953G>A (p.Gly318Glu) c.*420G>A (n.*420G>A) c.596G>A (p.Gly199Glu) c.434G>A (p.Gly145Glu) c.908G>A (p.Gly303Glu) c.734G>A (p.Gly245Glu) | |
3 | g.171005296C>A | CA355488035 | SLC2A2 | c.952G>T (p.Gly318Ter) c.*419G>T (n.*419G>T) c.595G>T (p.Gly199Ter) c.433G>T (p.Gly145Ter) c.907G>T (p.Gly303Ter) c.733G>T (p.Gly245Ter) | |
3 | g.171005296C= | CA1420164778 | SLC2A2 | c.952G= (p.Gly318=) c.*419G= (n.*419G=) c.595G= (p.Gly199=) c.433G= (p.Gly145=) c.907G= (p.Gly303=) c.733G= (p.Gly245=) | |
3 | g.171005296C>G | CA355488036 | SLC2A2 | c.952G>C (p.Gly318Arg) c.*419G>C (n.*419G>C) c.595G>C (p.Gly199Arg) c.433G>C (p.Gly145Arg) c.907G>C (p.Gly303Arg) c.733G>C (p.Gly245Arg) | |
3 | g.171005296C>T | CA2702548 | SLC2A2 | c.952G>A (p.Gly318Arg) c.*419G>A (n.*419G>A) c.595G>A (p.Gly199Arg) c.433G>A (p.Gly145Arg) c.907G>A (p.Gly303Arg) c.733G>A (p.Gly245Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005297G>A | CA436774628 | SLC2A2 | c.951C>T (p.Ser317=) c.*418C>T (n.*418C>T) c.594C>T (p.Ser198=) c.432C>T (p.Ser144=) c.906C>T (p.Ser302=) c.732C>T (p.Ser244=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.171005297G>C | CA436774630 | SLC2A2 | c.951C>G (p.Ser317=) c.*418C>G (n.*418C>G) c.594C>G (p.Ser198=) c.432C>G (p.Ser144=) c.906C>G (p.Ser302=) c.732C>G (p.Ser244=) | |
3 | g.171005297G= | CA1420164779 | SLC2A2 | c.951C= (p.Ser317=) c.*418C= (n.*418C=) c.594C= (p.Ser198=) c.432C= (p.Ser144=) c.906C= (p.Ser302=) c.732C= (p.Ser244=) | |
3 | g.171005297G>T | CA436774629 | SLC2A2 | c.951C>A (p.Ser317=) c.*418C>A (n.*418C>A) c.594C>A (p.Ser198=) c.432C>A (p.Ser144=) c.906C>A (p.Ser302=) c.732C>A (p.Ser244=) | |
3 | g.171005298G>A | CA355488037 | SLC2A2 | c.950C>T (p.Ser317Phe) c.*417C>T (n.*417C>T) c.593C>T (p.Ser198Phe) c.431C>T (p.Ser144Phe) c.905C>T (p.Ser302Phe) c.731C>T (p.Ser244Phe) | COSMIC |
3 | g.171005298G>C | CA355488038 | SLC2A2 | c.950C>G (p.Ser317Cys) c.*417C>G (n.*417C>G) c.593C>G (p.Ser198Cys) c.431C>G (p.Ser144Cys) c.905C>G (p.Ser302Cys) c.731C>G (p.Ser244Cys) | |
3 | g.171005298G>T | CA355488039 | SLC2A2 | c.950C>A (p.Ser317Tyr) c.*417C>A (n.*417C>A) c.593C>A (p.Ser198Tyr) c.431C>A (p.Ser144Tyr) c.905C>A (p.Ser302Tyr) c.731C>A (p.Ser244Tyr) | |
3 | g.171005299A>C | CA355488042 | SLC2A2 | c.949T>G (p.Ser317Ala) c.*416T>G (n.*416T>G) c.592T>G (p.Ser198Ala) c.430T>G (p.Ser144Ala) c.904T>G (p.Ser302Ala) c.730T>G (p.Ser244Ala) | |
3 | g.171005299A>G | CA355488040 | SLC2A2 | c.949T>C (p.Ser317Pro) c.*416T>C (n.*416T>C) c.592T>C (p.Ser198Pro) c.430T>C (p.Ser144Pro) c.904T>C (p.Ser302Pro) c.730T>C (p.Ser244Pro) | gnomAD v4 |
3 | g.171005299A>T | CA355488041 | SLC2A2 | c.949T>A (p.Ser317Thr) c.*416T>A (n.*416T>A) c.592T>A (p.Ser198Thr) c.430T>A (p.Ser144Thr) c.904T>A (p.Ser302Thr) c.730T>A (p.Ser244Thr) | |
3 | g.171005300A>C | CA355488043 | SLC2A2 | c.948T>G (p.Phe316Leu) c.*415T>G (n.*415T>G) c.591T>G (p.Phe197Leu) c.429T>G (p.Phe143Leu) c.903T>G (p.Phe301Leu) c.729T>G (p.Phe243Leu) | |
3 | g.171005300A>G | CA436774631 | SLC2A2 | c.948T>C (p.Phe316=) c.*415T>C (n.*415T>C) c.591T>C (p.Phe197=) c.429T>C (p.Phe143=) c.903T>C (p.Phe301=) c.729T>C (p.Phe243=) | |
3 | g.171005300A>T | CA355488044 | SLC2A2 | c.948T>A (p.Phe316Leu) c.*415T>A (n.*415T>A) c.591T>A (p.Phe197Leu) c.429T>A (p.Phe143Leu) c.903T>A (p.Phe301Leu) c.729T>A (p.Phe243Leu) | |
3 | g.171005301A>C | CA355488045 | SLC2A2 | c.947T>G (p.Phe316Cys) c.*414T>G (n.*414T>G) c.590T>G (p.Phe197Cys) c.428T>G (p.Phe143Cys) c.902T>G (p.Phe301Cys) c.728T>G (p.Phe243Cys) | |
3 | g.171005301A>G | CA355488046 | SLC2A2 | c.947T>C (p.Phe316Ser) c.*414T>C (n.*414T>C) c.590T>C (p.Phe197Ser) c.428T>C (p.Phe143Ser) c.902T>C (p.Phe301Ser) c.728T>C (p.Phe243Ser) | |
3 | g.171005301A>T | CA355488047 | SLC2A2 | c.947T>A (p.Phe316Tyr) c.*414T>A (n.*414T>A) c.590T>A (p.Phe197Tyr) c.428T>A (p.Phe143Tyr) c.902T>A (p.Phe301Tyr) c.728T>A (p.Phe243Tyr) | |
3 | g.171005302A>C | CA355488048 | SLC2A2 | c.946T>G (p.Phe316Val) c.*413T>G (n.*413T>G) c.589T>G (p.Phe197Val) c.427T>G (p.Phe143Val) c.901T>G (p.Phe301Val) c.727T>G (p.Phe243Val) | gnomAD v4 |
3 | g.171005302A>G | CA355488049 | SLC2A2 | c.946T>C (p.Phe316Leu) c.*413T>C (n.*413T>C) c.589T>C (p.Phe197Leu) c.427T>C (p.Phe143Leu) c.901T>C (p.Phe301Leu) c.727T>C (p.Phe243Leu) | |
3 | g.171005302A>T | CA355488050 | SLC2A2 | c.946T>A (p.Phe316Ile) c.*413T>A (n.*413T>A) c.589T>A (p.Phe197Ile) c.427T>A (p.Phe143Ile) c.901T>A (p.Phe301Ile) c.727T>A (p.Phe243Ile) | gnomAD v4 |
3 | g.171005303T>A | CA355488051 | SLC2A2 | c.945A>T (p.Gln315His) c.*412A>T (n.*412A>T) c.588A>T (p.Gln196His) c.426A>T (p.Gln142His) c.900A>T (p.Gln300His) c.726A>T (p.Gln242His) | |
3 | g.171005303T>C | CA436774635 | SLC2A2 | c.945A>G (p.Gln315=) c.*412A>G (n.*412A>G) c.588A>G (p.Gln196=) c.426A>G (p.Gln142=) c.900A>G (p.Gln300=) c.726A>G (p.Gln242=) | |
3 | g.171005303T>G | CA355488052 | SLC2A2 | c.945A>C (p.Gln315His) c.*412A>C (n.*412A>C) c.588A>C (p.Gln196His) c.426A>C (p.Gln142His) c.900A>C (p.Gln300His) c.726A>C (p.Gln242His) | |
3 | g.171005304T>A | CA355488055 | SLC2A2 | c.944A>T (p.Gln315Leu) c.*411A>T (n.*411A>T) c.587A>T (p.Gln196Leu) c.425A>T (p.Gln142Leu) c.899A>T (p.Gln300Leu) c.725A>T (p.Gln242Leu) | |
3 | g.171005304T>C | CA355488054 | SLC2A2 | c.944A>G (p.Gln315Arg) c.*411A>G (n.*411A>G) c.587A>G (p.Gln196Arg) c.425A>G (p.Gln142Arg) c.899A>G (p.Gln300Arg) c.725A>G (p.Gln242Arg) | |
3 | g.171005304T>G | CA355488053 | SLC2A2 | c.944A>C (p.Gln315Pro) c.*411A>C (n.*411A>C) c.587A>C (p.Gln196Pro) c.425A>C (p.Gln142Pro) c.899A>C (p.Gln300Pro) c.725A>C (p.Gln242Pro) | |
3 | g.171005305G>A | CA355488056 | SLC2A2 | c.943C>T (p.Gln315Ter) c.*410C>T (n.*410C>T) c.586C>T (p.Gln196Ter) c.424C>T (p.Gln142Ter) c.898C>T (p.Gln300Ter) c.724C>T (p.Gln242Ter) | |
3 | g.171005305G>C | CA355488057 | SLC2A2 | c.943C>G (p.Gln315Glu) c.*410C>G (n.*410C>G) c.586C>G (p.Gln196Glu) c.424C>G (p.Gln142Glu) c.898C>G (p.Gln300Glu) c.724C>G (p.Gln242Glu) | |
3 | g.171005305G>T | CA355488058 | SLC2A2 | c.943C>A (p.Gln315Lys) c.*410C>A (n.*410C>A) c.586C>A (p.Gln196Lys) c.424C>A (p.Gln142Lys) c.898C>A (p.Gln300Lys) c.724C>A (p.Gln242Lys) | |
3 | g.171005306C>A | CA355488059 | SLC2A2 | c.942G>T (p.Gln314His) c.*409G>T (n.*409G>T) c.585G>T (p.Gln195His) c.423G>T (p.Gln141His) c.897G>T (p.Gln299His) c.723G>T (p.Gln241His) | |
3 | g.171005306C>G | CA355488060 | SLC2A2 | c.942G>C (p.Gln314His) c.*409G>C (n.*409G>C) c.585G>C (p.Gln195His) c.423G>C (p.Gln141His) c.897G>C (p.Gln299His) c.723G>C (p.Gln241His) | |
3 | g.171005306C>T | CA436774636 | SLC2A2 | c.942G>A (p.Gln314=) c.*409G>A (n.*409G>A) c.585G>A (p.Gln195=) c.423G>A (p.Gln141=) c.897G>A (p.Gln299=) c.723G>A (p.Gln241=) | |
3 | g.171005307T>A | CA355488063 | SLC2A2 | c.941A>T (p.Gln314Leu) c.*408A>T (n.*408A>T) c.584A>T (p.Gln195Leu) c.422A>T (p.Gln141Leu) c.896A>T (p.Gln299Leu) c.722A>T (p.Gln241Leu) | |
3 | g.171005307T>C | CA355488062 | SLC2A2 | c.941A>G (p.Gln314Arg) c.*408A>G (n.*408A>G) c.584A>G (p.Gln195Arg) c.422A>G (p.Gln141Arg) c.896A>G (p.Gln299Arg) c.722A>G (p.Gln241Arg) | |
3 | g.171005307T>G | CA355488061 | SLC2A2 | c.941A>C (p.Gln314Pro) c.*408A>C (n.*408A>C) c.584A>C (p.Gln195Pro) c.422A>C (p.Gln141Pro) c.896A>C (p.Gln299Pro) c.722A>C (p.Gln241Pro) | |
3 | g.171005308G>A | CA355488064 | SLC2A2 | c.940C>T (p.Gln314Ter) c.*407C>T (n.*407C>T) c.583C>T (p.Gln195Ter) c.421C>T (p.Gln141Ter) c.895C>T (p.Gln299Ter) c.721C>T (p.Gln241Ter) | |
3 | g.171005308G>C | CA355488065 | SLC2A2 | c.940C>G (p.Gln314Glu) c.*407C>G (n.*407C>G) c.583C>G (p.Gln195Glu) c.421C>G (p.Gln141Glu) c.895C>G (p.Gln299Glu) c.721C>G (p.Gln241Glu) | |
3 | g.171005308G>T | CA355488066 | SLC2A2 | c.940C>A (p.Gln314Lys) c.*407C>A (n.*407C>A) c.583C>A (p.Gln195Lys) c.421C>A (p.Gln141Lys) c.895C>A (p.Gln299Lys) c.721C>A (p.Gln241Lys) | |
3 | g.171005309A>C | CA436774639 | SLC2A2 | c.939T>G (p.Ala313=) c.*406T>G (n.*406T>G) c.582T>G (p.Ala194=) c.420T>G (p.Ala140=) c.894T>G (p.Ala298=) c.720T>G (p.Ala240=) | COSMIC |
3 | g.171005309A>G | CA436774640 | SLC2A2 | c.939T>C (p.Ala313=) c.*406T>C (n.*406T>C) c.582T>C (p.Ala194=) c.420T>C (p.Ala140=) c.894T>C (p.Ala298=) c.720T>C (p.Ala240=) | gnomAD v4 |
3 | g.171005309A>T | CA436774641 | SLC2A2 | c.939T>A (p.Ala313=) c.*406T>A (n.*406T>A) c.582T>A (p.Ala194=) c.420T>A (p.Ala140=) c.894T>A (p.Ala298=) c.720T>A (p.Ala240=) | |
3 | g.171005310G>A | CA355488067 | SLC2A2 | c.938C>T (p.Ala313Val) c.*405C>T (n.*405C>T) c.581C>T (p.Ala194Val) c.419C>T (p.Ala140Val) c.893C>T (p.Ala298Val) c.719C>T (p.Ala240Val) | |
3 | g.171005310G>C | CA355488068 | SLC2A2 | c.938C>G (p.Ala313Gly) c.*405C>G (n.*405C>G) c.581C>G (p.Ala194Gly) c.419C>G (p.Ala140Gly) c.893C>G (p.Ala298Gly) c.719C>G (p.Ala240Gly) | |
3 | g.171005310G>T | CA355488069 | SLC2A2 | c.938C>A (p.Ala313Asp) c.*405C>A (n.*405C>A) c.581C>A (p.Ala194Asp) c.419C>A (p.Ala140Asp) c.893C>A (p.Ala298Asp) c.719C>A (p.Ala240Asp) | |
3 | g.171005311C>A | CA355488070 | SLC2A2 | c.937G>T (p.Ala313Ser) c.*404G>T (n.*404G>T) c.580G>T (p.Ala194Ser) c.418G>T (p.Ala140Ser) c.892G>T (p.Ala298Ser) c.718G>T (p.Ala240Ser) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.171005311C= | CA1420164780 | SLC2A2 | c.937G= (p.Ala313=) c.*404G= (n.*404G=) c.580G= (p.Ala194=) c.418G= (p.Ala140=) c.892G= (p.Ala298=) c.718G= (p.Ala240=) | |
3 | g.171005311C>G | CA355488072 | SLC2A2 | c.937G>C (p.Ala313Pro) c.*404G>C (n.*404G>C) c.580G>C (p.Ala194Pro) c.418G>C (p.Ala140Pro) c.892G>C (p.Ala298Pro) c.718G>C (p.Ala240Pro) | |
3 | g.171005311C>T | CA355488071 | SLC2A2 | c.937G>A (p.Ala313Thr) c.*404G>A (n.*404G>A) c.580G>A (p.Ala194Thr) c.418G>A (p.Ala140Thr) c.892G>A (p.Ala298Thr) c.718G>A (p.Ala240Thr) | dbSNP COSMIC |
3 | g.171005312C>A | CA436774643 | SLC2A2 | c.936G>T (p.Val312=) c.*403G>T (n.*403G>T) c.579G>T (p.Val193=) c.417G>T (p.Val139=) c.891G>T (p.Val297=) c.717G>T (p.Val239=) | |
3 | g.171005312C>G | CA436774645 | SLC2A2 | c.936G>C (p.Val312=) c.*403G>C (n.*403G>C) c.579G>C (p.Val193=) c.417G>C (p.Val139=) c.891G>C (p.Val297=) c.717G>C (p.Val239=) | gnomAD v4 |
3 | g.171005312C>T | CA436774646 | SLC2A2 | c.936G>A (p.Val312=) c.*403G>A (n.*403G>A) c.579G>A (p.Val193=) c.417G>A (p.Val139=) c.891G>A (p.Val297=) c.717G>A (p.Val239=) | |
3 | g.171005313A= | CA1420164781 | SLC2A2 | c.935T= (p.Val312=) c.*402T= (n.*402T=) c.578T= (p.Val193=) c.416T= (p.Val139=) c.890T= (p.Val297=) c.716T= (p.Val239=) | |
3 | g.171005313A>C | CA355488073 | SLC2A2 | c.935T>G (p.Val312Gly) c.*402T>G (n.*402T>G) c.578T>G (p.Val193Gly) c.416T>G (p.Val139Gly) c.890T>G (p.Val297Gly) c.716T>G (p.Val239Gly) | |
3 | g.171005313A>G | CA355488074 | SLC2A2 | c.935T>C (p.Val312Ala) c.*402T>C (n.*402T>C) c.578T>C (p.Val193Ala) c.416T>C (p.Val139Ala) c.890T>C (p.Val297Ala) c.716T>C (p.Val239Ala) | dbSNP |
3 | g.171005313A>T | CA355488075 | SLC2A2 | c.935T>A (p.Val312Glu) c.*402T>A (n.*402T>A) c.578T>A (p.Val193Glu) c.416T>A (p.Val139Glu) c.890T>A (p.Val297Glu) c.716T>A (p.Val239Glu) | |
3 | g.171005314C>A | CA355488076 | SLC2A2 | c.934G>T (p.Val312Leu) c.*401G>T (n.*401G>T) c.577G>T (p.Val193Leu) c.415G>T (p.Val139Leu) c.889G>T (p.Val297Leu) c.715G>T (p.Val239Leu) | |
3 | g.171005314C= | CA1420164782 | SLC2A2 | c.934G= (p.Val312=) c.*401G= (n.*401G=) c.577G= (p.Val193=) c.415G= (p.Val139=) c.889G= (p.Val297=) c.715G= (p.Val239=) | |
3 | g.171005314C>G | CA355488077 | SLC2A2 | c.934G>C (p.Val312Leu) c.*401G>C (n.*401G>C) c.577G>C (p.Val193Leu) c.415G>C (p.Val139Leu) c.889G>C (p.Val297Leu) c.715G>C (p.Val239Leu) | |
3 | g.171005314C>T | CA355488078 | SLC2A2 | c.934G>A (p.Val312Met) c.*401G>A (n.*401G>A) c.577G>A (p.Val193Met) c.415G>A (p.Val139Met) c.889G>A (p.Val297Met) c.715G>A (p.Val239Met) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.171005315A= | CA1420164783 | SLC2A2 | c.933T= (p.His311=) c.*400T= (n.*400T=) c.576T= (p.His192=) c.414T= (p.His138=) c.888T= (p.His296=) c.714T= (p.His238=) | |
3 | g.171005315A>C | CA355488079 | SLC2A2 | c.933T>G (p.His311Gln) c.*400T>G (n.*400T>G) c.576T>G (p.His192Gln) c.414T>G (p.His138Gln) c.888T>G (p.His296Gln) c.714T>G (p.His238Gln) | |
3 | g.171005315A>G | CA436774647 | SLC2A2 | c.933T>C (p.His311=) c.*400T>C (n.*400T>C) c.576T>C (p.His192=) c.414T>C (p.His138=) c.888T>C (p.His296=) c.714T>C (p.His238=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.171005315A>T | CA355488080 | SLC2A2 | c.933T>A (p.His311Gln) c.*400T>A (n.*400T>A) c.576T>A (p.His192Gln) c.414T>A (p.His138Gln) c.888T>A (p.His296Gln) c.714T>A (p.His238Gln) | |
3 | g.171005316T>A | CA355488082 | SLC2A2 | c.932A>T (p.His311Leu) c.*399A>T (n.*399A>T) c.575A>T (p.His192Leu) c.413A>T (p.His138Leu) c.887A>T (p.His296Leu) c.713A>T (p.His238Leu) | |
3 | g.171005316T>C | CA355488084 | SLC2A2 | c.932A>G (p.His311Arg) c.*399A>G (n.*399A>G) c.575A>G (p.His192Arg) c.413A>G (p.His138Arg) c.887A>G (p.His296Arg) c.713A>G (p.His238Arg) | |
3 | g.171005316T>G | CA355488086 | SLC2A2 | c.932A>C (p.His311Pro) c.*399A>C (n.*399A>C) c.575A>C (p.His192Pro) c.413A>C (p.His138Pro) c.887A>C (p.His296Pro) c.713A>C (p.His238Pro) | |
3 | g.171005317G>A | CA355488089 | SLC2A2 | c.931C>T (p.His311Tyr) c.*398C>T (n.*398C>T) c.574C>T (p.His192Tyr) c.412C>T (p.His138Tyr) c.886C>T (p.His296Tyr) c.712C>T (p.His238Tyr) | |
3 | g.171005317G>C | CA355488092 | SLC2A2 | c.931C>G (p.His311Asp) c.*398C>G (n.*398C>G) c.574C>G (p.His192Asp) c.412C>G (p.His138Asp) c.886C>G (p.His296Asp) c.712C>G (p.His238Asp) | |
3 | g.171005317G>T | CA355488087 | SLC2A2 | c.931C>A (p.His311Asn) c.*398C>A (n.*398C>A) c.574C>A (p.His192Asn) c.412C>A (p.His138Asn) c.886C>A (p.His296Asn) c.712C>A (p.His238Asn) | |
3 | g.171005318C>A | CA436774776 | SLC2A2 | c.930G>T (p.Leu310=) c.*397G>T (n.*397G>T) c.573G>T (p.Leu191=) c.411G>T (p.Leu137=) c.885G>T (p.Leu295=) c.711G>T (p.Leu237=) | |
3 | g.171005318C>G | CA436774778 | SLC2A2 | c.930G>C (p.Leu310=) c.*397G>C (n.*397G>C) c.573G>C (p.Leu191=) c.411G>C (p.Leu137=) c.885G>C (p.Leu295=) c.711G>C (p.Leu237=) | |
3 | g.171005318C>T | CA436774780 | SLC2A2 | c.930G>A (p.Leu310=) c.*397G>A (n.*397G>A) c.573G>A (p.Leu191=) c.411G>A (p.Leu137=) c.885G>A (p.Leu295=) c.711G>A (p.Leu237=) | |
3 | g.171005319A>C | CA355488098 | SLC2A2 | c.929T>G (p.Leu310Arg) c.*396T>G (n.*396T>G) c.572T>G (p.Leu191Arg) c.410T>G (p.Leu137Arg) c.884T>G (p.Leu295Arg) c.710T>G (p.Leu237Arg) | |
3 | g.171005319A>G | CA355488094 | SLC2A2 | c.929T>C (p.Leu310Pro) c.*396T>C (n.*396T>C) c.572T>C (p.Leu191Pro) c.410T>C (p.Leu137Pro) c.884T>C (p.Leu295Pro) c.710T>C (p.Leu237Pro) | dbSNP gnomAD v4 |
3 | g.171005319A>T | CA355488096 | SLC2A2 | c.929T>A (p.Leu310Gln) c.*396T>A (n.*396T>A) c.572T>A (p.Leu191Gln) c.410T>A (p.Leu137Gln) c.884T>A (p.Leu295Gln) c.710T>A (p.Leu237Gln) | |
3 | g.171005320G>A | CA436774782 | SLC2A2 | c.928C>T (p.Leu310=) c.*395C>T (n.*395C>T) c.571C>T (p.Leu191=) c.409C>T (p.Leu137=) c.883C>T (p.Leu295=) c.709C>T (p.Leu237=) | |
3 | g.171005320G>C | CA355488100 | SLC2A2 | c.928C>G (p.Leu310Val) c.*395C>G (n.*395C>G) c.571C>G (p.Leu191Val) c.409C>G (p.Leu137Val) c.883C>G (p.Leu295Val) c.709C>G (p.Leu237Val) | |
3 | g.171005320G>T | CA355488102 | SLC2A2 | c.928C>A (p.Leu310Met) c.*395C>A (n.*395C>A) c.571C>A (p.Leu191Met) c.409C>A (p.Leu137Met) c.883C>A (p.Leu295Met) c.709C>A (p.Leu237Met) | |
3 | g.171005321C>A | CA355488104 | SLC2A2 | c.927G>T (p.Met309Ile) c.*394G>T (n.*394G>T) c.570G>T (p.Met190Ile) c.408G>T (p.Met136Ile) c.882G>T (p.Met294Ile) c.708G>T (p.Met236Ile) | |
3 | g.171005321C>G | CA355488106 | SLC2A2 | c.927G>C (p.Met309Ile) c.*394G>C (n.*394G>C) c.570G>C (p.Met190Ile) c.408G>C (p.Met136Ile) c.882G>C (p.Met294Ile) c.708G>C (p.Met236Ile) | |
3 | g.171005321C>T | CA355488108 | SLC2A2 | c.927G>A (p.Met309Ile) c.*394G>A (n.*394G>A) c.570G>A (p.Met190Ile) c.408G>A (p.Met136Ile) c.882G>A (p.Met294Ile) c.708G>A (p.Met236Ile) | |
3 | g.171005322A= | CA1420164784 | SLC2A2 | c.926T= (p.Met309=) c.*393T= (n.*393T=) c.569T= (p.Met190=) c.407T= (p.Met136=) c.881T= (p.Met294=) c.707T= (p.Met236=) | |
3 | g.171005322A>C | CA355488110 | SLC2A2 | c.926T>G (p.Met309Arg) c.*393T>G (n.*393T>G) c.569T>G (p.Met190Arg) c.407T>G (p.Met136Arg) c.881T>G (p.Met294Arg) c.707T>G (p.Met236Arg) | |
3 | g.171005322A>G | CA355488112 | SLC2A2 | c.926T>C (p.Met309Thr) c.*393T>C (n.*393T>C) c.569T>C (p.Met190Thr) c.407T>C (p.Met136Thr) c.881T>C (p.Met294Thr) c.707T>C (p.Met236Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.171005322A>T | CA355488115 | SLC2A2 | c.926T>A (p.Met309Lys) c.*393T>A (n.*393T>A) c.569T>A (p.Met190Lys) c.407T>A (p.Met136Lys) c.881T>A (p.Met294Lys) c.707T>A (p.Met236Lys) | |
3 | g.171005323T>A | CA355488118 | SLC2A2 | c.925A>T (p.Met309Leu) c.*392A>T (n.*392A>T) c.568A>T (p.Met190Leu) c.406A>T (p.Met136Leu) c.880A>T (p.Met294Leu) c.706A>T (p.Met236Leu) | gnomAD v3 gnomAD v4 |
3 | g.171005323T>C | CA355488121 | SLC2A2 | c.925A>G (p.Met309Val) c.*392A>G (n.*392A>G) c.568A>G (p.Met190Val) c.406A>G (p.Met136Val) c.880A>G (p.Met294Val) c.706A>G (p.Met236Val) | |
3 | g.171005323T>G | CA355488123 | SLC2A2 | c.925A>C (p.Met309Leu) c.*392A>C (n.*392A>C) c.568A>C (p.Met190Leu) c.406A>C (p.Met136Leu) c.880A>C (p.Met294Leu) c.706A>C (p.Met236Leu) | |
3 | g.171005324C>A | CA436774791 | SLC2A2 | c.924G>T (p.Leu308=) c.*391G>T (n.*391G>T) c.567G>T (p.Leu189=) c.405G>T (p.Leu135=) c.879G>T (p.Leu293=) c.705G>T (p.Leu235=) | |
3 | g.171005324C>G | CA436774792 | SLC2A2 | c.924G>C (p.Leu308=) c.*391G>C (n.*391G>C) c.567G>C (p.Leu189=) c.405G>C (p.Leu135=) c.879G>C (p.Leu293=) c.705G>C (p.Leu235=) | |
3 | g.171005324C>T | CA436774793 | SLC2A2 | c.924G>A (p.Leu308=) c.*391G>A (n.*391G>A) c.567G>A (p.Leu189=) c.405G>A (p.Leu135=) c.879G>A (p.Leu293=) c.705G>A (p.Leu235=) | |
3 | g.171005325A>C | CA355488133 | SLC2A2 | c.923T>G (p.Leu308Arg) c.*390T>G (n.*390T>G) c.566T>G (p.Leu189Arg) c.404T>G (p.Leu135Arg) c.878T>G (p.Leu293Arg) c.704T>G (p.Leu235Arg) | |
3 | g.171005325A>G | CA355488126 | SLC2A2 | c.923T>C (p.Leu308Pro) c.*390T>C (n.*390T>C) c.566T>C (p.Leu189Pro) c.404T>C (p.Leu135Pro) c.878T>C (p.Leu293Pro) c.704T>C (p.Leu235Pro) | |
3 | g.171005325A>T | CA355488129 | SLC2A2 | c.923T>A (p.Leu308Gln) c.*390T>A (n.*390T>A) c.566T>A (p.Leu189Gln) c.404T>A (p.Leu135Gln) c.878T>A (p.Leu293Gln) c.704T>A (p.Leu235Gln) | |
3 | g.171005326G>A | CA2702549 | SLC2A2 | c.922C>T (p.Leu308=) c.*389C>T (n.*389C>T) c.565C>T (p.Leu189=) c.403C>T (p.Leu135=) c.877C>T (p.Leu293=) c.703C>T (p.Leu235=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.171005326G>C | CA355488138 | SLC2A2 | c.922C>G (p.Leu308Val) c.*389C>G (n.*389C>G) c.565C>G (p.Leu189Val) c.403C>G (p.Leu135Val) c.877C>G (p.Leu293Val) c.703C>G (p.Leu235Val) | |
3 | g.171005326G= | CA1420164785 | SLC2A2 | c.922C= (p.Leu308=) c.*389C= (n.*389C=) c.565C= (p.Leu189=) c.403C= (p.Leu135=) c.877C= (p.Leu293=) c.703C= (p.Leu235=) | |
3 | g.171005326G>T | CA355488141 | SLC2A2 | c.922C>A (p.Leu308Met) c.*389C>A (n.*389C>A) c.565C>A (p.Leu189Met) c.403C>A (p.Leu135Met) c.877C>A (p.Leu293Met) c.703C>A (p.Leu235Met) | |
3 | g.171005327T>A | CA436774795 | SLC2A2 | c.921A>T (p.Ala307=) c.*388A>T (n.*388A>T) c.564A>T (p.Ala188=) c.402A>T (p.Ala134=) c.876A>T (p.Ala292=) c.702A>T (p.Ala234=) | |
3 | g.171005327T>C | CA436774797 | SLC2A2 | c.921A>G (p.Ala307=) c.*388A>G (n.*388A>G) c.564A>G (p.Ala188=) c.402A>G (p.Ala134=) c.876A>G (p.Ala292=) c.702A>G (p.Ala234=) | |
3 | g.171005327T>G | CA436774796 | SLC2A2 | c.921A>C (p.Ala307=) c.*388A>C (n.*388A>C) c.564A>C (p.Ala188=) c.402A>C (p.Ala134=) c.876A>C (p.Ala292=) c.702A>C (p.Ala234=) | |
3 | g.171005328G>A | CA355488144 | SLC2A2 | c.920C>T (p.Ala307Val) c.*387C>T (n.*387C>T) c.563C>T (p.Ala188Val) c.401C>T (p.Ala134Val) c.875C>T (p.Ala292Val) c.701C>T (p.Ala234Val) | |
3 | g.171005328G>C | CA355488148 | SLC2A2 | c.920C>G (p.Ala307Gly) c.*387C>G (n.*387C>G) c.563C>G (p.Ala188Gly) c.401C>G (p.Ala134Gly) c.875C>G (p.Ala292Gly) c.701C>G (p.Ala234Gly) | |
3 | g.171005328G>T | CA355488151 | SLC2A2 | c.920C>A (p.Ala307Glu) c.*387C>A (n.*387C>A) c.563C>A (p.Ala188Glu) c.401C>A (p.Ala134Glu) c.875C>A (p.Ala292Glu) c.701C>A (p.Ala234Glu) | |
3 | g.171005329C>A | CA355488154 | SLC2A2 | c.919G>T (p.Ala307Ser) c.*386G>T (n.*386G>T) c.562G>T (p.Ala188Ser) c.400G>T (p.Ala134Ser) c.874G>T (p.Ala292Ser) c.700G>T (p.Ala234Ser) | |
3 | g.171005329C= | CA1420164786 | SLC2A2 | c.919G= (p.Ala307=) c.*386G= (n.*386G=) c.562G= (p.Ala188=) c.400G= (p.Ala134=) c.874G= (p.Ala292=) c.700G= (p.Ala234=) | |
3 | g.171005329C>G | CA355488156 | SLC2A2 | c.919G>C (p.Ala307Pro) c.*386G>C (n.*386G>C) c.562G>C (p.Ala188Pro) c.400G>C (p.Ala134Pro) c.874G>C (p.Ala292Pro) c.700G>C (p.Ala234Pro) | |
3 | g.171005329C>T | CA355488159 | SLC2A2 | c.919G>A (p.Ala307Thr) c.*386G>A (n.*386G>A) c.562G>A (p.Ala188Thr) c.400G>A (p.Ala134Thr) c.874G>A (p.Ala292Thr) c.700G>A (p.Ala234Thr) | dbSNP gnomAD v4 |
3 | g.171005330C>A | CA436774800 | SLC2A2 | c.918G>T (p.Val306=) c.*385G>T (n.*385G>T) c.561G>T (p.Val187=) c.399G>T (p.Val133=) c.873G>T (p.Val291=) c.699G>T (p.Val233=) | |
3 | g.171005330C>G | CA436774801 | SLC2A2 | c.918G>C (p.Val306=) c.*385G>C (n.*385G>C) c.561G>C (p.Val187=) c.399G>C (p.Val133=) c.873G>C (p.Val291=) c.699G>C (p.Val233=) | |
3 | g.171005330C>T | CA436774802 | SLC2A2 | c.918G>A (p.Val306=) c.*385G>A (n.*385G>A) c.561G>A (p.Val187=) c.399G>A (p.Val133=) c.873G>A (p.Val291=) c.699G>A (p.Val233=) | |
3 | g.171005331A>C | CA355488163 | SLC2A2 | c.917T>G (p.Val306Gly) c.*384T>G (n.*384T>G) c.560T>G (p.Val187Gly) c.398T>G (p.Val133Gly) c.872T>G (p.Val291Gly) c.698T>G (p.Val233Gly) | |
3 | g.171005331A>G | CA355488166 | SLC2A2 | c.917T>C (p.Val306Ala) c.*384T>C (n.*384T>C) c.560T>C (p.Val187Ala) c.398T>C (p.Val133Ala) c.872T>C (p.Val291Ala) c.698T>C (p.Val233Ala) | gnomAD v4 |
3 | g.171005331A>T | CA355488169 | SLC2A2 | c.917T>A (p.Val306Glu) c.*384T>A (n.*384T>A) c.560T>A (p.Val187Glu) c.398T>A (p.Val133Glu) c.872T>A (p.Val291Glu) c.698T>A (p.Val233Glu) | |
3 | g.171005332C>A | CA355488180 | SLC2A2 | c.916G>T (p.Val306Leu) c.*383G>T (n.*383G>T) c.559G>T (p.Val187Leu) c.397G>T (p.Val133Leu) c.871G>T (p.Val291Leu) c.697G>T (p.Val233Leu) | |
3 | g.171005332C>G | CA355488177 | SLC2A2 | c.916G>C (p.Val306Leu) c.*383G>C (n.*383G>C) c.559G>C (p.Val187Leu) c.397G>C (p.Val133Leu) c.871G>C (p.Val291Leu) c.697G>C (p.Val233Leu) | gnomAD v4 |
3 | g.171005332C>T | CA355488175 | SLC2A2 | c.916G>A (p.Val306Met) c.*383G>A (n.*383G>A) c.559G>A (p.Val187Met) c.397G>A (p.Val133Met) c.871G>A (p.Val291Met) c.697G>A (p.Val233Met) | gnomAD v4 |
3 | g.171005333T>A | CA436774808 | SLC2A2 | c.915A>T (p.Leu305=) c.*382A>T (n.*382A>T) c.558A>T (p.Leu186=) c.396A>T (p.Leu132=) c.870A>T (p.Leu290=) c.696A>T (p.Leu232=) | |
3 | g.171005333T>C | CA436774810 | SLC2A2 | c.915A>G (p.Leu305=) c.*382A>G (n.*382A>G) c.558A>G (p.Leu186=) c.396A>G (p.Leu132=) c.870A>G (p.Leu290=) c.696A>G (p.Leu232=) | gnomAD v4 |
3 | g.171005333T>G | CA436774811 | SLC2A2 | c.915A>C (p.Leu305=) c.*382A>C (n.*382A>C) c.558A>C (p.Leu186=) c.396A>C (p.Leu132=) c.870A>C (p.Leu290=) c.696A>C (p.Leu232=) | |
3 | g.171005334A= | CA1420164787 | SLC2A2 | c.914T= (p.Leu305=) c.*381T= (n.*381T=) c.557T= (p.Leu186=) c.395T= (p.Leu132=) c.869T= (p.Leu290=) c.695T= (p.Leu232=) | |
3 | g.171005334A>C | CA355488184 | SLC2A2 | c.914T>G (p.Leu305Arg) c.*381T>G (n.*381T>G) c.557T>G (p.Leu186Arg) c.395T>G (p.Leu132Arg) c.869T>G (p.Leu290Arg) c.695T>G (p.Leu232Arg) | |
3 | g.171005334A>G | CA87709344 | SLC2A2 | c.914T>C (p.Leu305Pro) c.*381T>C (n.*381T>C) c.557T>C (p.Leu186Pro) c.395T>C (p.Leu132Pro) c.869T>C (p.Leu290Pro) c.695T>C (p.Leu232Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005334A>T | CA355488190 | SLC2A2 | c.914T>A (p.Leu305Gln) c.*381T>A (n.*381T>A) c.557T>A (p.Leu186Gln) c.395T>A (p.Leu132Gln) c.869T>A (p.Leu290Gln) c.695T>A (p.Leu232Gln) | |
3 | g.171005335G>A | CA436774816 | SLC2A2 | c.913C>T (p.Leu305=) c.*380C>T (n.*380C>T) c.556C>T (p.Leu186=) c.394C>T (p.Leu132=) c.868C>T (p.Leu290=) c.694C>T (p.Leu232=) | |
3 | g.171005335G>C | CA355488192 | SLC2A2 | c.913C>G (p.Leu305Val) c.*380C>G (n.*380C>G) c.556C>G (p.Leu186Val) c.394C>G (p.Leu132Val) c.868C>G (p.Leu290Val) c.694C>G (p.Leu232Val) | |
3 | g.171005335G>T | CA355488198 | SLC2A2 | c.913C>A (p.Leu305Ile) c.*380C>A (n.*380C>A) c.556C>A (p.Leu186Ile) c.394C>A (p.Leu132Ile) c.868C>A (p.Leu290Ile) c.694C>A (p.Leu232Ile) | |
3 | g.171005336A= | CA1420164788 | SLC2A2 | c.912T= (p.Ile304=) c.*379T= (n.*379T=) c.555T= (p.Ile185=) c.393T= (p.Ile131=) c.867T= (p.Ile289=) c.693T= (p.Ile231=) | |
3 | g.171005336A>C | CA355488200 | SLC2A2 | c.912T>G (p.Ile304Met) c.*379T>G (n.*379T>G) c.555T>G (p.Ile185Met) c.393T>G (p.Ile131Met) c.867T>G (p.Ile289Met) c.693T>G (p.Ile231Met) | |
3 | g.171005336A>G | CA436774821 | SLC2A2 | c.912T>C (p.Ile304=) c.*379T>C (n.*379T>C) c.555T>C (p.Ile185=) c.393T>C (p.Ile131=) c.867T>C (p.Ile289=) c.693T>C (p.Ile231=) | dbSNP |
3 | g.171005336A>T | CA436774822 | SLC2A2 | c.912T>A (p.Ile304=) c.*379T>A (n.*379T>A) c.555T>A (p.Ile185=) c.393T>A (p.Ile131=) c.867T>A (p.Ile289=) c.693T>A (p.Ile231=) | |
3 | g.171005337A>C | CA355488208 | SLC2A2 | c.911T>G (p.Ile304Ser) c.*378T>G (n.*378T>G) c.554T>G (p.Ile185Ser) c.392T>G (p.Ile131Ser) c.866T>G (p.Ile289Ser) c.692T>G (p.Ile231Ser) | |
3 | g.171005337A>G | CA355488206 | SLC2A2 | c.911T>C (p.Ile304Thr) c.*378T>C (n.*378T>C) c.554T>C (p.Ile185Thr) c.392T>C (p.Ile131Thr) c.866T>C (p.Ile289Thr) c.692T>C (p.Ile231Thr) | |
3 | g.171005337A>T | CA355488203 | SLC2A2 | c.911T>A (p.Ile304Asn) c.*378T>A (n.*378T>A) c.554T>A (p.Ile185Asn) c.392T>A (p.Ile131Asn) c.866T>A (p.Ile289Asn) c.692T>A (p.Ile231Asn) | |
3 | g.171005338T>A | CA355488212 | SLC2A2 | c.910A>T (p.Ile304Phe) c.*377A>T (n.*377A>T) c.553A>T (p.Ile185Phe) c.391A>T (p.Ile131Phe) c.865A>T (p.Ile289Phe) c.691A>T (p.Ile231Phe) | |
3 | g.171005338T>C | CA355488214 | SLC2A2 | c.910A>G (p.Ile304Val) c.*377A>G (n.*377A>G) c.553A>G (p.Ile185Val) c.391A>G (p.Ile131Val) c.865A>G (p.Ile289Val) c.691A>G (p.Ile231Val) | |
3 | g.171005338T>G | CA355488216 | SLC2A2 | c.910A>C (p.Ile304Leu) c.*377A>C (n.*377A>C) c.553A>C (p.Ile185Leu) c.391A>C (p.Ile131Leu) c.865A>C (p.Ile289Leu) c.691A>C (p.Ile231Leu) | |
3 | g.171005339A>C | CA436774833 | SLC2A2 | c.909T>G (p.Pro303=) c.*376T>G (n.*376T>G) c.552T>G (p.Pro184=) c.390T>G (p.Pro130=) c.864T>G (p.Pro288=) c.690T>G (p.Pro230=) | |
3 | g.171005339A>G | CA436774835 | SLC2A2 | c.909T>C (p.Pro303=) c.*376T>C (n.*376T>C) c.552T>C (p.Pro184=) c.390T>C (p.Pro130=) c.864T>C (p.Pro288=) c.690T>C (p.Pro230=) | |
3 | g.171005339A>T | CA436774837 | SLC2A2 | c.909T>A (p.Pro303=) c.*376T>A (n.*376T>A) c.552T>A (p.Pro184=) c.390T>A (p.Pro130=) c.864T>A (p.Pro288=) c.690T>A (p.Pro230=) | |
3 | g.171005339_171005340delinsAG | CA1420164789 | SLC2A2 | c.908_909delinsCT (p.Pro303=) c.*375_*376delinsCT (n.*375_*376delinsCT) c.551_552delinsCT (p.Pro184=) c.389_390delinsCT (p.Pro130=) c.863_864delinsCT (p.Pro288=) c.689_690delinsCT (p.Pro230=) | |
3 | g.171005340G>A | CA355488221 | SLC2A2 | c.908C>T (p.Pro303Leu) c.*375C>T (n.*375C>T) c.551C>T (p.Pro184Leu) c.389C>T (p.Pro130Leu) c.863C>T (p.Pro288Leu) c.689C>T (p.Pro230Leu) | |
3 | g.171005340G>C | CA355488223 | SLC2A2 | c.908C>G (p.Pro303Arg) c.*375C>G (n.*375C>G) c.551C>G (p.Pro184Arg) c.389C>G (p.Pro130Arg) c.863C>G (p.Pro288Arg) c.689C>G (p.Pro230Arg) | |
3 | g.171005340G>T | CA355488225 | SLC2A2 | c.908C>A (p.Pro303His) c.*375C>A (n.*375C>A) c.551C>A (p.Pro184His) c.389C>A (p.Pro130His) c.863C>A (p.Pro288His) c.689C>A (p.Pro230His) | |
3 | g.171005341del | CA547971498 | SLC2A2 | c.908del (p.Pro303LeufsTer3) c.*375del (n.*375del) c.551del (p.Pro184LeufsTer3) c.389del (p.Pro130LeufsTer3) c.863del (p.Pro288LeufsTer3) c.689del (p.Pro230LeufsTer3) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005341G>A | CA355488228 | SLC2A2 | c.907C>T (p.Pro303Ser) c.*374C>T (n.*374C>T) c.550C>T (p.Pro184Ser) c.388C>T (p.Pro130Ser) c.862C>T (p.Pro288Ser) c.688C>T (p.Pro230Ser) | |
3 | g.171005341G>C | CA355488232 | SLC2A2 | c.907C>G (p.Pro303Ala) c.*374C>G (n.*374C>G) c.550C>G (p.Pro184Ala) c.388C>G (p.Pro130Ala) c.862C>G (p.Pro288Ala) c.688C>G (p.Pro230Ala) | |
3 | g.171005341G>T | CA355488230 | SLC2A2 | c.907C>A (p.Pro303Thr) c.*374C>A (n.*374C>A) c.550C>A (p.Pro184Thr) c.388C>A (p.Pro130Thr) c.862C>A (p.Pro288Thr) c.688C>A (p.Pro230Thr) | |
3 | g.171005342C>A | CA355488235 | SLC2A2 | c.906G>T (p.Gln302His) c.*373G>T (n.*373G>T) c.549G>T (p.Gln183His) c.387G>T (p.Gln129His) c.861G>T (p.Gln287His) c.687G>T (p.Gln229His) | |
3 | g.171005342C>G | CA355488238 | SLC2A2 | c.906G>C (p.Gln302His) c.*373G>C (n.*373G>C) c.549G>C (p.Gln183His) c.387G>C (p.Gln129His) c.861G>C (p.Gln287His) c.687G>C (p.Gln229His) | |
3 | g.171005342C>T | CA436774841 | SLC2A2 | c.906G>A (p.Gln302=) c.*373G>A (n.*373G>A) c.549G>A (p.Gln183=) c.387G>A (p.Gln129=) c.861G>A (p.Gln287=) c.687G>A (p.Gln229=) | gnomAD v4 |
3 | g.171005343T>A | CA355488242 | SLC2A2 | c.905A>T (p.Gln302Leu) c.*372A>T (n.*372A>T) c.548A>T (p.Gln183Leu) c.386A>T (p.Gln129Leu) c.860A>T (p.Gln287Leu) c.686A>T (p.Gln229Leu) | |
3 | g.171005343T>C | CA355488244 | SLC2A2 | c.905A>G (p.Gln302Arg) c.*372A>G (n.*372A>G) c.548A>G (p.Gln183Arg) c.386A>G (p.Gln129Arg) c.860A>G (p.Gln287Arg) c.686A>G (p.Gln229Arg) | |
3 | g.171005343T>G | CA355488247 | SLC2A2 | c.905A>C (p.Gln302Pro) c.*372A>C (n.*372A>C) c.548A>C (p.Gln183Pro) c.386A>C (p.Gln129Pro) c.860A>C (p.Gln287Pro) c.686A>C (p.Gln229Pro) | |
3 | g.171005344G>A | CA355488250 | SLC2A2 | c.904C>T (p.Gln302Ter) c.*371C>T (n.*371C>T) c.547C>T (p.Gln183Ter) c.385C>T (p.Gln129Ter) c.859C>T (p.Gln287Ter) c.685C>T (p.Gln229Ter) | |
3 | g.171005344G>C | CA355488253 | SLC2A2 | c.904C>G (p.Gln302Glu) c.*371C>G (n.*371C>G) c.547C>G (p.Gln183Glu) c.385C>G (p.Gln129Glu) c.859C>G (p.Gln287Glu) c.685C>G (p.Gln229Glu) | |
3 | g.171005344G= | CA1420164790 | SLC2A2 | c.904C= (p.Gln302=) c.*371C= (n.*371C=) c.547C= (p.Gln183=) c.385C= (p.Gln129=) c.859C= (p.Gln287=) c.685C= (p.Gln229=) | |
3 | g.171005344G>T | CA355488254 | SLC2A2 | c.904C>A (p.Gln302Lys) c.*371C>A (n.*371C>A) c.547C>A (p.Gln183Lys) c.385C>A (p.Gln129Lys) c.859C>A (p.Gln287Lys) c.685C>A (p.Gln229Lys) | |
3 | g.171005344_171005345insCCAA | CA547971499 | SLC2A2 | c.903_904insTTGG (p.Gln302LeufsTer?) c.*370_*371insTTGG (n.*370_*371insTTGG) c.546_547insTTGG (p.Gln183LeufsTer?) c.384_385insTTGG (p.Gln129LeufsTer?) c.858_859insTTGG (p.Gln287LeufsTer?) c.684_685insTTGG (p.Gln229LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005345T>A | CA436774845 | SLC2A2 | c.903A>T (p.Arg301=) c.*370A>T (n.*370A>T) c.546A>T (p.Arg182=) c.384A>T (p.Arg128=) c.858A>T (p.Arg286=) c.684A>T (p.Arg228=) | |
3 | g.171005345T>C | CA2702550 | SLC2A2 | c.903A>G (p.Arg301=) c.*370A>G (n.*370A>G) c.546A>G (p.Arg182=) c.384A>G (p.Arg128=) c.858A>G (p.Arg286=) c.684A>G (p.Arg228=) | dbSNP ExAC gnomAD v2 |
3 | g.171005345T>G | CA436774846 | SLC2A2 | c.903A>C (p.Arg301=) c.*370A>C (n.*370A>C) c.546A>C (p.Arg182=) c.384A>C (p.Arg128=) c.858A>C (p.Arg286=) c.684A>C (p.Arg228=) | |
3 | g.171005345T= | CA1420164791 | SLC2A2 | c.903A= (p.Arg301=) c.*370A= (n.*370A=) c.546A= (p.Arg182=) c.384A= (p.Arg128=) c.858A= (p.Arg286=) c.684A= (p.Arg228=) | |
3 | g.171005346C>A | CA355488260 | SLC2A2 | c.902G>T (p.Arg301Leu) c.*369G>T (n.*369G>T) c.545G>T (p.Arg182Leu) c.383G>T (p.Arg128Leu) c.857G>T (p.Arg286Leu) c.683G>T (p.Arg228Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005346C= | CA1420164792 | SLC2A2 | c.902G= (p.Arg301=) c.*369G= (n.*369G=) c.545G= (p.Arg182=) c.383G= (p.Arg128=) c.857G= (p.Arg286=) c.683G= (p.Arg228=) | |
3 | g.171005346C>G | CA355488261 | SLC2A2 | c.902G>C (p.Arg301Pro) c.*369G>C (n.*369G>C) c.545G>C (p.Arg182Pro) c.383G>C (p.Arg128Pro) c.857G>C (p.Arg286Pro) c.683G>C (p.Arg228Pro) | |
3 | g.171005346C>T | CA2702551 | SLC2A2 | c.902G>A (p.Arg301Gln) c.*369G>A (n.*369G>A) c.545G>A (p.Arg182Gln) c.383G>A (p.Arg128Gln) c.857G>A (p.Arg286Gln) c.683G>A (p.Arg228Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005346_171005347insAATAG | CA1420164794 | SLC2A2 | c.901_902insCTATT (p.Arg301ProfsTer7) c.*368_*369insCTATT (n.*368_*369insCTATT) c.544_545insCTATT (p.Arg182ProfsTer7) c.382_383insCTATT (p.Arg128ProfsTer7) c.856_857insCTATT (p.Arg286ProfsTer7) c.682_683insCTATT (p.Arg228ProfsTer7) | dbSNP |
3 | g.171005347G>A | CA020034 | SLC2A2 | c.901C>T (p.Arg301Ter) c.*368C>T (n.*368C>T) c.544C>T (p.Arg182Ter) c.382C>T (p.Arg128Ter) c.856C>T (p.Arg286Ter) c.682C>T (p.Arg228Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.171005347G>C | CA355488266 | SLC2A2 | c.901C>G (p.Arg301Gly) c.*368C>G (n.*368C>G) c.544C>G (p.Arg182Gly) c.382C>G (p.Arg128Gly) c.856C>G (p.Arg286Gly) c.682C>G (p.Arg228Gly) | |
3 | g.171005347G= | CA1420164793 | SLC2A2 | c.901C= (p.Arg301=) c.*368C= (n.*368C=) c.544C= (p.Arg182=) c.382C= (p.Arg128=) c.856C= (p.Arg286=) c.682C= (p.Arg228=) | |
3 | g.171005347G>T | CA436774852 | SLC2A2 | c.901C>A (p.Arg301=) c.*368C>A (n.*368C>A) c.544C>A (p.Arg182=) c.382C>A (p.Arg128=) c.856C>A (p.Arg286=) c.682C>A (p.Arg228=) | |
3 | g.171005347_171005348insA | CA547971501 | SLC2A2 | c.900_901insT (p.Arg301SerfsTer?) c.*367_*368insT (n.*367_*368insT) c.543_544insT (p.Arg182SerfsTer?) c.381_382insT (p.Arg128SerfsTer?) c.855_856insT (p.Arg286SerfsTer?) c.681_682insT (p.Arg228SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005348G>A | CA87709372 | SLC2A2 | c.900C>T (p.Tyr300=) c.*367C>T (n.*367C>T) c.543C>T (p.Tyr181=) c.381C>T (p.Tyr127=) c.855C>T (p.Tyr285=) c.681C>T (p.Tyr227=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005348G>C | CA355488268 | SLC2A2 | c.900C>G (p.Tyr300Ter) c.*367C>G (n.*367C>G) c.543C>G (p.Tyr181Ter) c.381C>G (p.Tyr127Ter) c.855C>G (p.Tyr285Ter) c.681C>G (p.Tyr227Ter) | |
3 | g.171005348G= | CA1420164795 | SLC2A2 | c.900C= (p.Tyr300=) c.*367C= (n.*367C=) c.543C= (p.Tyr181=) c.381C= (p.Tyr127=) c.855C= (p.Tyr285=) c.681C= (p.Tyr227=) | |
3 | g.171005348G>T | CA355488272 | SLC2A2 | c.900C>A (p.Tyr300Ter) c.*367C>A (n.*367C>A) c.543C>A (p.Tyr181Ter) c.381C>A (p.Tyr127Ter) c.855C>A (p.Tyr285Ter) c.681C>A (p.Tyr227Ter) | |
3 | g.171005349T>A | CA355488274 | SLC2A2 | c.899A>T (p.Tyr300Phe) c.*366A>T (n.*366A>T) c.542A>T (p.Tyr181Phe) c.380A>T (p.Tyr127Phe) c.854A>T (p.Tyr285Phe) c.680A>T (p.Tyr227Phe) | |
3 | g.171005349T>C | CA355488276 | SLC2A2 | c.899A>G (p.Tyr300Cys) c.*366A>G (n.*366A>G) c.542A>G (p.Tyr181Cys) c.380A>G (p.Tyr127Cys) c.854A>G (p.Tyr285Cys) c.680A>G (p.Tyr227Cys) | |
3 | g.171005349T>G | CA355488278 | SLC2A2 | c.899A>C (p.Tyr300Ser) c.*366A>C (n.*366A>C) c.542A>C (p.Tyr181Ser) c.380A>C (p.Tyr127Ser) c.854A>C (p.Tyr285Ser) c.680A>C (p.Tyr227Ser) | |
3 | g.171005350A= | CA1420164796 | SLC2A2 | c.898T= (p.Tyr300=) c.*365T= (n.*365T=) c.541T= (p.Tyr181=) c.379T= (p.Tyr127=) c.853T= (p.Tyr285=) c.679T= (p.Tyr227=) | |
3 | g.171005350A>C | CA355488280 | SLC2A2 | c.898T>G (p.Tyr300Asp) c.*365T>G (n.*365T>G) c.541T>G (p.Tyr181Asp) c.379T>G (p.Tyr127Asp) c.853T>G (p.Tyr285Asp) c.679T>G (p.Tyr227Asp) | |
3 | g.171005350A>G | CA2702552 | SLC2A2 | c.898T>C (p.Tyr300His) c.*365T>C (n.*365T>C) c.541T>C (p.Tyr181His) c.379T>C (p.Tyr127His) c.853T>C (p.Tyr285His) c.679T>C (p.Tyr227His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.171005350A>T | CA355488284 | SLC2A2 | c.898T>A (p.Tyr300Asn) c.*365T>A (n.*365T>A) c.541T>A (p.Tyr181Asn) c.379T>A (p.Tyr127Asn) c.853T>A (p.Tyr285Asn) c.679T>A (p.Tyr227Asn) | |
3 | g.171005351G>A | CA436774860 | SLC2A2 | c.897C>T (p.Ser299=) c.*364C>T (n.*364C>T) c.540C>T (p.Ser180=) c.378C>T (p.Ser126=) c.852C>T (p.Ser284=) c.678C>T (p.Ser226=) | gnomAD v4 |
3 | g.171005351G>C | CA355488288 | SLC2A2 | c.897C>G (p.Ser299Arg) c.*364C>G (n.*364C>G) c.540C>G (p.Ser180Arg) c.378C>G (p.Ser126Arg) c.852C>G (p.Ser284Arg) c.678C>G (p.Ser226Arg) | |
3 | g.171005351G>T | CA355488286 | SLC2A2 | c.897C>A (p.Ser299Arg) c.*364C>A (n.*364C>A) c.540C>A (p.Ser180Arg) c.378C>A (p.Ser126Arg) c.852C>A (p.Ser284Arg) c.678C>A (p.Ser226Arg) | |
3 | g.171005352C>A | CA355488292 | SLC2A2 | c.896G>T (p.Ser299Ile) c.*363G>T (n.*363G>T) c.539G>T (p.Ser180Ile) c.377G>T (p.Ser126Ile) c.851G>T (p.Ser284Ile) c.677G>T (p.Ser226Ile) | |
3 | g.171005352C>G | CA355488293 | SLC2A2 | c.896G>C (p.Ser299Thr) c.*363G>C (n.*363G>C) c.539G>C (p.Ser180Thr) c.377G>C (p.Ser126Thr) c.851G>C (p.Ser284Thr) c.677G>C (p.Ser226Thr) | gnomAD v4 |
3 | g.171005352C>T | CA355488296 | SLC2A2 | c.896G>A (p.Ser299Asn) c.*363G>A (n.*363G>A) c.539G>A (p.Ser180Asn) c.377G>A (p.Ser126Asn) c.851G>A (p.Ser284Asn) c.677G>A (p.Ser226Asn) | |
3 | g.171005353T>A | CA2702553 | SLC2A2 | c.895A>T (p.Ser299Cys) c.*362A>T (n.*362A>T) c.538A>T (p.Ser180Cys) c.376A>T (p.Ser126Cys) c.850A>T (p.Ser284Cys) c.676A>T (p.Ser226Cys) | dbSNP ExAC |
3 | g.171005353T>C | CA355488301 | SLC2A2 | c.895A>G (p.Ser299Gly) c.*362A>G (n.*362A>G) c.538A>G (p.Ser180Gly) c.376A>G (p.Ser126Gly) c.850A>G (p.Ser284Gly) c.676A>G (p.Ser226Gly) | |
3 | g.171005353T>G | CA355488304 | SLC2A2 | c.895A>C (p.Ser299Arg) c.*362A>C (n.*362A>C) c.538A>C (p.Ser180Arg) c.376A>C (p.Ser126Arg) c.850A>C (p.Ser284Arg) c.676A>C (p.Ser226Arg) | |
3 | g.171005353T= | CA1420164797 | SLC2A2 | c.895A= (p.Ser299=) c.*362A= (n.*362A=) c.538A= (p.Ser180=) c.376A= (p.Ser126=) c.850A= (p.Ser284=) c.676A= (p.Ser226=) | |
3 | g.171005354G>A | CA436774866 | SLC2A2 | c.894C>T (p.Ser298=) c.*361C>T (n.*361C>T) c.537C>T (p.Ser179=) c.375C>T (p.Ser125=) c.849C>T (p.Ser283=) c.675C>T (p.Ser225=) | dbSNP |
3 | g.171005354G>C | CA436774865 | SLC2A2 | c.894C>G (p.Ser298=) c.*361C>G (n.*361C>G) c.537C>G (p.Ser179=) c.375C>G (p.Ser125=) c.849C>G (p.Ser283=) c.675C>G (p.Ser225=) | |
3 | g.171005354G= | CA1420164798 | SLC2A2 | c.894C= (p.Ser298=) c.*361C= (n.*361C=) c.537C= (p.Ser179=) c.375C= (p.Ser125=) c.849C= (p.Ser283=) c.675C= (p.Ser225=) | |
3 | g.171005354G>T | CA436774864 | SLC2A2 | c.894C>A (p.Ser298=) c.*361C>A (n.*361C>A) c.537C>A (p.Ser179=) c.375C>A (p.Ser125=) c.849C>A (p.Ser283=) c.675C>A (p.Ser225=) | |
3 | g.171005355G>A | CA355488306 | SLC2A2 | c.893C>T (p.Ser298Phe) c.*360C>T (n.*360C>T) c.536C>T (p.Ser179Phe) c.374C>T (p.Ser125Phe) c.848C>T (p.Ser283Phe) c.674C>T (p.Ser225Phe) | |
3 | g.171005355G>C | CA355488311 | SLC2A2 | c.893C>G (p.Ser298Cys) c.*360C>G (n.*360C>G) c.536C>G (p.Ser179Cys) c.374C>G (p.Ser125Cys) c.848C>G (p.Ser283Cys) c.674C>G (p.Ser225Cys) | |
3 | g.171005355G>T | CA355488309 | SLC2A2 | c.893C>A (p.Ser298Tyr) c.*360C>A (n.*360C>A) c.536C>A (p.Ser179Tyr) c.374C>A (p.Ser125Tyr) c.848C>A (p.Ser283Tyr) c.674C>A (p.Ser225Tyr) | |
3 | g.171005356A= | CA1420164799 | SLC2A2 | c.892T= (p.Ser298=) c.*359T= (n.*359T=) c.535T= (p.Ser179=) c.373T= (p.Ser125=) c.847T= (p.Ser283=) c.673T= (p.Ser225=) | |
3 | g.171005356A>C | CA355488315 | SLC2A2 | c.892T>G (p.Ser298Ala) c.*359T>G (n.*359T>G) c.535T>G (p.Ser179Ala) c.373T>G (p.Ser125Ala) c.847T>G (p.Ser283Ala) c.673T>G (p.Ser225Ala) | gnomAD v4 |
3 | g.171005356A>G | CA87709382 | SLC2A2 | c.892T>C (p.Ser298Pro) c.*359T>C (n.*359T>C) c.535T>C (p.Ser179Pro) c.373T>C (p.Ser125Pro) c.847T>C (p.Ser283Pro) c.673T>C (p.Ser225Pro) | dbSNP gnomAD v4 |
3 | g.171005356A>T | CA355488319 | SLC2A2 | c.892T>A (p.Ser298Thr) c.*359T>A (n.*359T>A) c.535T>A (p.Ser179Thr) c.373T>A (p.Ser125Thr) c.847T>A (p.Ser283Thr) c.673T>A (p.Ser225Thr) | |
3 | g.171005357A>C | CA355488322 | SLC2A2 | c.891T>G (p.Asn297Lys) c.*358T>G (n.*358T>G) c.534T>G (p.Asn178Lys) c.372T>G (p.Asn124Lys) c.846T>G (p.Asn282Lys) c.672T>G (p.Asn224Lys) | |
3 | g.171005357A>G | CA436774870 | SLC2A2 | c.891T>C (p.Asn297=) c.*358T>C (n.*358T>C) c.534T>C (p.Asn178=) c.372T>C (p.Asn124=) c.846T>C (p.Asn282=) c.672T>C (p.Asn224=) | |
3 | g.171005357A>T | CA355488324 | SLC2A2 | c.891T>A (p.Asn297Lys) c.*358T>A (n.*358T>A) c.534T>A (p.Asn178Lys) c.372T>A (p.Asn124Lys) c.846T>A (p.Asn282Lys) c.672T>A (p.Asn224Lys) | |
3 | g.171005358T>A | CA355488328 | SLC2A2 | c.890A>T (p.Asn297Ile) c.*357A>T (n.*357A>T) c.533A>T (p.Asn178Ile) c.371A>T (p.Asn124Ile) c.845A>T (p.Asn282Ile) c.671A>T (p.Asn224Ile) | |
3 | g.171005358T>C | CA2702554 | SLC2A2 | c.890A>G (p.Asn297Ser) c.*357A>G (n.*357A>G) c.533A>G (p.Asn178Ser) c.371A>G (p.Asn124Ser) c.845A>G (p.Asn282Ser) c.671A>G (p.Asn224Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.171005358T>G | CA355488332 | SLC2A2 | c.890A>C (p.Asn297Thr) c.*357A>C (n.*357A>C) c.533A>C (p.Asn178Thr) c.371A>C (p.Asn124Thr) c.845A>C (p.Asn282Thr) c.671A>C (p.Asn224Thr) | |
3 | g.171005358T= | CA1420164800 | SLC2A2 | c.890A= (p.Asn297=) c.*357A= (n.*357A=) c.533A= (p.Asn178=) c.371A= (p.Asn124=) c.845A= (p.Asn282=) c.671A= (p.Asn224=) | |
3 | g.171005359T>A | CA355488337 | SLC2A2 | c.889A>T (p.Asn297Tyr) c.*356A>T (n.*356A>T) c.532A>T (p.Asn178Tyr) c.370A>T (p.Asn124Tyr) c.844A>T (p.Asn282Tyr) c.670A>T (p.Asn224Tyr) | |
3 | g.171005359T>C | CA355488340 | SLC2A2 | c.889A>G (p.Asn297Asp) c.*356A>G (n.*356A>G) c.532A>G (p.Asn178Asp) c.370A>G (p.Asn124Asp) c.844A>G (p.Asn282Asp) c.670A>G (p.Asn224Asp) | |
3 | g.171005359T>G | CA355488343 | SLC2A2 | c.889A>C (p.Asn297His) c.*356A>C (n.*356A>C) c.532A>C (p.Asn178His) c.370A>C (p.Asn124His) c.844A>C (p.Asn282His) c.670A>C (p.Asn224His) |