Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.171005251G>TCA2668525490SLC2A2c.963+34C>A (n.963+34C>A)
c.*430+34C>A (n.*430+34C>A)
c.606+34C>A (n.606+34C>A)
c.444+34C>A (n.444+34C>A)
c.918+34C>A (n.918+34C>A)
c.744+34C>A (n.744+34C>A)
 gnomAD v4
3g.171005252C=CA1420164755SLC2A2c.963+33G= (n.963+33G=)
c.*430+33G= (n.*430+33G=)
c.606+33G= (n.606+33G=)
c.444+33G= (n.444+33G=)
c.918+33G= (n.918+33G=)
c.744+33G= (n.744+33G=)
3g.171005252C>TCA1420164756SLC2A2c.963+33G>A (n.963+33G>A)
c.*430+33G>A (n.*430+33G>A)
c.606+33G>A (n.606+33G>A)
c.444+33G>A (n.444+33G>A)
c.918+33G>A (n.918+33G>A)
c.744+33G>A (n.744+33G>A)
 dbSNP gnomAD v4
3g.171005253T>GCA2759361813SLC2A2c.963+32A>C (n.963+32A>C)
c.*430+32A>C (n.*430+32A>C)
c.606+32A>C (n.606+32A>C)
c.444+32A>C (n.444+32A>C)
c.918+32A>C (n.918+32A>C)
c.744+32A>C (n.744+32A>C)
3g.171005254C=CA1420164757SLC2A2c.963+31G= (n.963+31G=)
c.*430+31G= (n.*430+31G=)
c.606+31G= (n.606+31G=)
c.444+31G= (n.444+31G=)
c.918+31G= (n.918+31G=)
c.744+31G= (n.744+31G=)
3g.171005254C>GCA2759361814SLC2A2c.963+31G>C (n.963+31G>C)
c.*430+31G>C (n.*430+31G>C)
c.606+31G>C (n.606+31G>C)
c.444+31G>C (n.444+31G>C)
c.918+31G>C (n.918+31G>C)
c.744+31G>C (n.744+31G>C)
3g.171005254C>TCA1420164758SLC2A2c.963+31G>A (n.963+31G>A)
c.*430+31G>A (n.*430+31G>A)
c.606+31G>A (n.606+31G>A)
c.444+31G>A (n.444+31G>A)
c.918+31G>A (n.918+31G>A)
c.744+31G>A (n.744+31G>A)
 dbSNP gnomAD v4
3g.171005255T>GCA1420164760SLC2A2c.963+30A>C (n.963+30A>C)
c.*430+30A>C (n.*430+30A>C)
c.606+30A>C (n.606+30A>C)
c.444+30A>C (n.444+30A>C)
c.918+30A>C (n.918+30A>C)
c.744+30A>C (n.744+30A>C)
 dbSNP
3g.171005255T=CA1420164759SLC2A2c.963+30A= (n.963+30A=)
c.*430+30A= (n.*430+30A=)
c.606+30A= (n.606+30A=)
c.444+30A= (n.444+30A=)
c.918+30A= (n.918+30A=)
c.744+30A= (n.744+30A=)
3g.171005259G>TCA2668525491SLC2A2c.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
3g.171005261G>TCA2668525492SLC2A2c.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
3g.171005265G>ACA2702537SLC2A2c.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
3g.171005265G>CCA2702536SLC2A2c.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
3g.171005265G=CA1420164761SLC2A2c.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=)
3g.171005265_171005266delinsGTCA1420164762SLC2A2c.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)
3g.171005266delCA547971384SLC2A2c.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
3g.171005267G>ACA2702538SLC2A2c.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
3g.171005267G=CA1420164763SLC2A2c.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=)
3g.171005267G>TCA2668525494SLC2A2c.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
3g.171005269delCA2668525493SLC2A2c.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
3g.171005268G>TCA2668525495SLC2A2c.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
3g.171005269G>ACA2702539SLC2A2c.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
3g.171005269G>CCA2668525496SLC2A2c.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
3g.171005269G=CA1420164764SLC2A2c.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=)
3g.171005270T>CCA2702540SLC2A2c.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
3g.171005270T=CA1420164765SLC2A2c.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=)
3g.171005271G>ACA2702541SLC2A2c.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
3g.171005271G=CA1420164766SLC2A2c.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=)
3g.171005271G>TCA2577957694SLC2A2c.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)
3g.171005272T>CCA2702542SLC2A2c.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
3g.171005272T=CA1420164767SLC2A2c.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=)
3g.171005274C>ACA2759361815SLC2A2c.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)
3g.171005280C=CA1420164768SLC2A2c.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=)
3g.171005280C>GCA87709304SLC2A2c.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
3g.171005280C>TCA2702543SLC2A2c.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
3g.171005281T>GCA87709313SLC2A2c.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
3g.171005281T=CA1420164769SLC2A2c.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=)
3g.171005281_171005288delinsTTACGCCACA1420164770SLC2A2c.960_963+4delinsTGGCGTAA
c.*427_*430+4delinsTGGCGTAA
c.603_606+4delinsTGGCGTAA
c.441_444+4delinsTGGCGTAA
c.915_918+4delinsTGGCGTAA
c.741_744+4delinsTGGCGTAA
3g.171005282T>CCA2668525497SLC2A2c.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
3g.171005283_171005289delCA1420164771SLC2A2c.960_963+3del
c.*427_*430+3del
c.603_606+3del
c.441_444+3del
c.915_918+3del
c.741_744+3del
 dbSNP
3g.171005283A>CCA355488008SLC2A2c.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)
3g.171005283A>GCA355488009SLC2A2c.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)
3g.171005283A>TCA355488010SLC2A2c.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)
3g.171005283_171005284delinsACCA1420164772SLC2A2c.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)
3g.171005284delCA902472188SLC2A2c.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
3g.171005284C>ACA355488012SLC2A2c.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)
3g.171005284C=CA1420164773SLC2A2c.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=)
3g.171005284C>GCA355488011SLC2A2c.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)
3g.171005284C>TCA2702544SLC2A2c.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
3g.171005285G>ACA2702545SLC2A2c.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
3g.171005285G>CCA87709319SLC2A2c.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
3g.171005285G=CA1420164774SLC2A2c.963C= (p.Gly321=)
c.*430C= (n.*430C=)
c.606C= (p.Gly202=)
c.444C= (p.Gly148=)
c.918C= (p.Gly306=)
c.744C= (p.Gly248=)
3g.171005285G>TCA2702546SLC2A2c.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
3g.171005286C>ACA355488013SLC2A2c.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)
3g.171005286C>GCA355488014SLC2A2c.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)
3g.171005286C>TCA355488015SLC2A2c.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)
3g.171005287C>ACA2702547SLC2A2c.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
3g.171005287C=CA1420164775SLC2A2c.961G= (p.Gly321=)
c.*428G= (n.*428G=)
c.604G= (p.Gly202=)
c.442G= (p.Gly148=)
c.916G= (p.Gly306=)
c.742G= (p.Gly248=)
3g.171005287C>GCA355488016SLC2A2c.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)
3g.171005287C>TCA355488017SLC2A2c.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)
3g.171005288A>CCA355488018SLC2A2c.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)
3g.171005288A>GCA436774622SLC2A2c.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=)
3g.171005288A>TCA355488019SLC2A2c.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)
3g.171005289T>ACA355488020SLC2A2c.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)
3g.171005289T>CCA87709327SLC2A2c.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
3g.171005289T>GCA355488021SLC2A2c.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)
3g.171005289T=CA1420164776SLC2A2c.959A= (p.Asn320=)
c.*426A= (n.*426A=)
c.602A= (p.Asn201=)
c.440A= (p.Asn147=)
c.914A= (p.Asn305=)
c.740A= (p.Asn247=)
3g.171005290T>ACA355488023SLC2A2c.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)
3g.171005290T>CCA355488024SLC2A2c.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)
3g.171005290T>GCA355488022SLC2A2c.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)
3g.171005291G>ACA436774623SLC2A2c.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=)
3g.171005291G>CCA355488025SLC2A2c.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)
3g.171005291G>TCA436774624SLC2A2c.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=)
3g.171005292A>CCA355488026SLC2A2c.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)
3g.171005292A>GCA355488028SLC2A2c.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)
3g.171005292A>TCA355488027SLC2A2c.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)
3g.171005293T>ACA355488029SLC2A2c.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)
3g.171005293T>CCA355488030SLC2A2c.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
3g.171005293T>GCA355488031SLC2A2c.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)
3g.171005293T=CA1420164777SLC2A2c.955A= (p.Ile319=)
c.*422A= (n.*422A=)
c.598A= (p.Ile200=)
c.436A= (p.Ile146=)
c.910A= (p.Ile304=)
c.736A= (p.Ile246=)
3g.171005294T>ACA436774625SLC2A2c.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=)
3g.171005294T>CCA436774626SLC2A2c.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=)
3g.171005294T>GCA436774627SLC2A2c.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=)
3g.171005295C>ACA355488032SLC2A2c.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)
3g.171005295C>GCA355488033SLC2A2c.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)
3g.171005295C>TCA355488034SLC2A2c.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)
3g.171005296C>ACA355488035SLC2A2c.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)
3g.171005296C=CA1420164778SLC2A2c.952G= (p.Gly318=)
c.*419G= (n.*419G=)
c.595G= (p.Gly199=)
c.433G= (p.Gly145=)
c.907G= (p.Gly303=)
c.733G= (p.Gly245=)
3g.171005296C>GCA355488036SLC2A2c.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)
3g.171005296C>TCA2702548SLC2A2c.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
3g.171005297G>ACA436774628SLC2A2c.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
3g.171005297G>CCA436774630SLC2A2c.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=)
3g.171005297G=CA1420164779SLC2A2c.951C= (p.Ser317=)
c.*418C= (n.*418C=)
c.594C= (p.Ser198=)
c.432C= (p.Ser144=)
c.906C= (p.Ser302=)
c.732C= (p.Ser244=)
3g.171005297G>TCA436774629SLC2A2c.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=)
3g.171005298G>ACA355488037SLC2A2c.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
3g.171005298G>CCA355488038SLC2A2c.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)
3g.171005298G>TCA355488039SLC2A2c.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)
3g.171005299A>CCA355488042SLC2A2c.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)
3g.171005299A>GCA355488040SLC2A2c.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
3g.171005299A>TCA355488041SLC2A2c.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)
3g.171005300A>CCA355488043SLC2A2c.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)
3g.171005300A>GCA436774631SLC2A2c.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=)
3g.171005300A>TCA355488044SLC2A2c.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)
3g.171005301A>CCA355488045SLC2A2c.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)
3g.171005301A>GCA355488046SLC2A2c.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)
3g.171005301A>TCA355488047SLC2A2c.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)
3g.171005302A>CCA355488048SLC2A2c.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
3g.171005302A>GCA355488049SLC2A2c.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)
3g.171005302A>TCA355488050SLC2A2c.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
3g.171005303T>ACA355488051SLC2A2c.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)
3g.171005303T>CCA436774635SLC2A2c.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=)
3g.171005303T>GCA355488052SLC2A2c.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)
3g.171005304T>ACA355488055SLC2A2c.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)
3g.171005304T>CCA355488054SLC2A2c.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)
3g.171005304T>GCA355488053SLC2A2c.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)
3g.171005305G>ACA355488056SLC2A2c.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)
3g.171005305G>CCA355488057SLC2A2c.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)
3g.171005305G>TCA355488058SLC2A2c.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)
3g.171005306C>ACA355488059SLC2A2c.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)
3g.171005306C>GCA355488060SLC2A2c.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)
3g.171005306C>TCA436774636SLC2A2c.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=)
3g.171005307T>ACA355488063SLC2A2c.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)
3g.171005307T>CCA355488062SLC2A2c.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)
3g.171005307T>GCA355488061SLC2A2c.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)
3g.171005308G>ACA355488064SLC2A2c.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)
3g.171005308G>CCA355488065SLC2A2c.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)
3g.171005308G>TCA355488066SLC2A2c.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)
3g.171005309A>CCA436774639SLC2A2c.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
3g.171005309A>GCA436774640SLC2A2c.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
3g.171005309A>TCA436774641SLC2A2c.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=)
3g.171005310G>ACA355488067SLC2A2c.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)
3g.171005310G>CCA355488068SLC2A2c.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)
3g.171005310G>TCA355488069SLC2A2c.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)
3g.171005311C>ACA355488070SLC2A2c.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
3g.171005311C=CA1420164780SLC2A2c.937G= (p.Ala313=)
c.*404G= (n.*404G=)
c.580G= (p.Ala194=)
c.418G= (p.Ala140=)
c.892G= (p.Ala298=)
c.718G= (p.Ala240=)
3g.171005311C>GCA355488072SLC2A2c.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)
3g.171005311C>TCA355488071SLC2A2c.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
3g.171005312C>ACA436774643SLC2A2c.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=)
3g.171005312C>GCA436774645SLC2A2c.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
3g.171005312C>TCA436774646SLC2A2c.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=)
3g.171005313A=CA1420164781SLC2A2c.935T= (p.Val312=)
c.*402T= (n.*402T=)
c.578T= (p.Val193=)
c.416T= (p.Val139=)
c.890T= (p.Val297=)
c.716T= (p.Val239=)
3g.171005313A>CCA355488073SLC2A2c.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)
3g.171005313A>GCA355488074SLC2A2c.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
3g.171005313A>TCA355488075SLC2A2c.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)
3g.171005314C>ACA355488076SLC2A2c.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)
3g.171005314C=CA1420164782SLC2A2c.934G= (p.Val312=)
c.*401G= (n.*401G=)
c.577G= (p.Val193=)
c.415G= (p.Val139=)
c.889G= (p.Val297=)
c.715G= (p.Val239=)
3g.171005314C>GCA355488077SLC2A2c.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)
3g.171005314C>TCA355488078SLC2A2c.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
3g.171005315A=CA1420164783SLC2A2c.933T= (p.His311=)
c.*400T= (n.*400T=)
c.576T= (p.His192=)
c.414T= (p.His138=)
c.888T= (p.His296=)
c.714T= (p.His238=)
3g.171005315A>CCA355488079SLC2A2c.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)
3g.171005315A>GCA436774647SLC2A2c.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
3g.171005315A>TCA355488080SLC2A2c.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)
3g.171005316T>ACA355488082SLC2A2c.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)
3g.171005316T>CCA355488084SLC2A2c.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)
3g.171005316T>GCA355488086SLC2A2c.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)
3g.171005317G>ACA355488089SLC2A2c.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)
3g.171005317G>CCA355488092SLC2A2c.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)
3g.171005317G>TCA355488087SLC2A2c.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)
3g.171005318C>ACA436774776SLC2A2c.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=)
3g.171005318C>GCA436774778SLC2A2c.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=)
3g.171005318C>TCA436774780SLC2A2c.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=)
3g.171005319A>CCA355488098SLC2A2c.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)
3g.171005319A>GCA355488094SLC2A2c.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
3g.171005319A>TCA355488096SLC2A2c.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)
3g.171005320G>ACA436774782SLC2A2c.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=)
3g.171005320G>CCA355488100SLC2A2c.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)
3g.171005320G>TCA355488102SLC2A2c.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)
3g.171005321C>ACA355488104SLC2A2c.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)
3g.171005321C>GCA355488106SLC2A2c.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)
3g.171005321C>TCA355488108SLC2A2c.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)
3g.171005322A=CA1420164784SLC2A2c.926T= (p.Met309=)
c.*393T= (n.*393T=)
c.569T= (p.Met190=)
c.407T= (p.Met136=)
c.881T= (p.Met294=)
c.707T= (p.Met236=)
3g.171005322A>CCA355488110SLC2A2c.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)
3g.171005322A>GCA355488112SLC2A2c.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
3g.171005322A>TCA355488115SLC2A2c.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)
3g.171005323T>ACA355488118SLC2A2c.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
3g.171005323T>CCA355488121SLC2A2c.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)
3g.171005323T>GCA355488123SLC2A2c.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)
3g.171005324C>ACA436774791SLC2A2c.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=)
3g.171005324C>GCA436774792SLC2A2c.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=)
3g.171005324C>TCA436774793SLC2A2c.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=)
3g.171005325A>CCA355488133SLC2A2c.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)
3g.171005325A>GCA355488126SLC2A2c.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)
3g.171005325A>TCA355488129SLC2A2c.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)
3g.171005326G>ACA2702549SLC2A2c.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
3g.171005326G>CCA355488138SLC2A2c.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)
3g.171005326G=CA1420164785SLC2A2c.922C= (p.Leu308=)
c.*389C= (n.*389C=)
c.565C= (p.Leu189=)
c.403C= (p.Leu135=)
c.877C= (p.Leu293=)
c.703C= (p.Leu235=)
3g.171005326G>TCA355488141SLC2A2c.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)
3g.171005327T>ACA436774795SLC2A2c.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=)
3g.171005327T>CCA436774797SLC2A2c.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=)
3g.171005327T>GCA436774796SLC2A2c.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=)
3g.171005328G>ACA355488144SLC2A2c.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)
3g.171005328G>CCA355488148SLC2A2c.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)
3g.171005328G>TCA355488151SLC2A2c.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)
3g.171005329C>ACA355488154SLC2A2c.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)
3g.171005329C=CA1420164786SLC2A2c.919G= (p.Ala307=)
c.*386G= (n.*386G=)
c.562G= (p.Ala188=)
c.400G= (p.Ala134=)
c.874G= (p.Ala292=)
c.700G= (p.Ala234=)
3g.171005329C>GCA355488156SLC2A2c.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)
3g.171005329C>TCA355488159SLC2A2c.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
3g.171005330C>ACA436774800SLC2A2c.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=)
3g.171005330C>GCA436774801SLC2A2c.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=)
3g.171005330C>TCA436774802SLC2A2c.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=)
3g.171005331A>CCA355488163SLC2A2c.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)
3g.171005331A>GCA355488166SLC2A2c.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
3g.171005331A>TCA355488169SLC2A2c.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)
3g.171005332C>ACA355488180SLC2A2c.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)
3g.171005332C>GCA355488177SLC2A2c.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
3g.171005332C>TCA355488175SLC2A2c.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
3g.171005333T>ACA436774808SLC2A2c.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=)
3g.171005333T>CCA436774810SLC2A2c.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
3g.171005333T>GCA436774811SLC2A2c.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=)
3g.171005334A=CA1420164787SLC2A2c.914T= (p.Leu305=)
c.*381T= (n.*381T=)
c.557T= (p.Leu186=)
c.395T= (p.Leu132=)
c.869T= (p.Leu290=)
c.695T= (p.Leu232=)
3g.171005334A>CCA355488184SLC2A2c.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)
3g.171005334A>GCA87709344SLC2A2c.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
3g.171005334A>TCA355488190SLC2A2c.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)
3g.171005335G>ACA436774816SLC2A2c.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=)
3g.171005335G>CCA355488192SLC2A2c.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)
3g.171005335G>TCA355488198SLC2A2c.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)
3g.171005336A=CA1420164788SLC2A2c.912T= (p.Ile304=)
c.*379T= (n.*379T=)
c.555T= (p.Ile185=)
c.393T= (p.Ile131=)
c.867T= (p.Ile289=)
c.693T= (p.Ile231=)
3g.171005336A>CCA355488200SLC2A2c.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)
3g.171005336A>GCA436774821SLC2A2c.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
3g.171005336A>TCA436774822SLC2A2c.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=)
3g.171005337A>CCA355488208SLC2A2c.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)
3g.171005337A>GCA355488206SLC2A2c.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)
3g.171005337A>TCA355488203SLC2A2c.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)
3g.171005338T>ACA355488212SLC2A2c.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)
3g.171005338T>CCA355488214SLC2A2c.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)
3g.171005338T>GCA355488216SLC2A2c.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)
3g.171005339A>CCA436774833SLC2A2c.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=)
3g.171005339A>GCA436774835SLC2A2c.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=)
3g.171005339A>TCA436774837SLC2A2c.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=)
3g.171005339_171005340delinsAGCA1420164789SLC2A2c.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=)
3g.171005340G>ACA355488221SLC2A2c.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)
3g.171005340G>CCA355488223SLC2A2c.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)
3g.171005340G>TCA355488225SLC2A2c.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)
3g.171005341delCA547971498SLC2A2c.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
3g.171005341G>ACA355488228SLC2A2c.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)
3g.171005341G>CCA355488232SLC2A2c.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)
3g.171005341G>TCA355488230SLC2A2c.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)
3g.171005342C>ACA355488235SLC2A2c.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)
3g.171005342C>GCA355488238SLC2A2c.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)
3g.171005342C>TCA436774841SLC2A2c.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
3g.171005343T>ACA355488242SLC2A2c.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)
3g.171005343T>CCA355488244SLC2A2c.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)
3g.171005343T>GCA355488247SLC2A2c.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)
3g.171005344G>ACA355488250SLC2A2c.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)
3g.171005344G>CCA355488253SLC2A2c.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)
3g.171005344G=CA1420164790SLC2A2c.904C= (p.Gln302=)
c.*371C= (n.*371C=)
c.547C= (p.Gln183=)
c.385C= (p.Gln129=)
c.859C= (p.Gln287=)
c.685C= (p.Gln229=)
3g.171005344G>TCA355488254SLC2A2c.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)
3g.171005344_171005345insCCAACA547971499SLC2A2c.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
3g.171005345T>ACA436774845SLC2A2c.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=)
3g.171005345T>CCA2702550SLC2A2c.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
3g.171005345T>GCA436774846SLC2A2c.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=)
3g.171005345T=CA1420164791SLC2A2c.903A= (p.Arg301=)
c.*370A= (n.*370A=)
c.546A= (p.Arg182=)
c.384A= (p.Arg128=)
c.858A= (p.Arg286=)
c.684A= (p.Arg228=)
3g.171005346C>ACA355488260SLC2A2c.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
3g.171005346C=CA1420164792SLC2A2c.902G= (p.Arg301=)
c.*369G= (n.*369G=)
c.545G= (p.Arg182=)
c.383G= (p.Arg128=)
c.857G= (p.Arg286=)
c.683G= (p.Arg228=)
3g.171005346C>GCA355488261SLC2A2c.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)
3g.171005346C>TCA2702551SLC2A2c.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
3g.171005346_171005347insAATAGCA1420164794SLC2A2c.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
3g.171005347G>ACA020034SLC2A2c.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
3g.171005347G>CCA355488266SLC2A2c.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)
3g.171005347G=CA1420164793SLC2A2c.901C= (p.Arg301=)
c.*368C= (n.*368C=)
c.544C= (p.Arg182=)
c.382C= (p.Arg128=)
c.856C= (p.Arg286=)
c.682C= (p.Arg228=)
3g.171005347G>TCA436774852SLC2A2c.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=)
3g.171005347_171005348insACA547971501SLC2A2c.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
3g.171005348G>ACA87709372SLC2A2c.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
3g.171005348G>CCA355488268SLC2A2c.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)
3g.171005348G=CA1420164795SLC2A2c.900C= (p.Tyr300=)
c.*367C= (n.*367C=)
c.543C= (p.Tyr181=)
c.381C= (p.Tyr127=)
c.855C= (p.Tyr285=)
c.681C= (p.Tyr227=)
3g.171005348G>TCA355488272SLC2A2c.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)
3g.171005349T>ACA355488274SLC2A2c.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)
3g.171005349T>CCA355488276SLC2A2c.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)
3g.171005349T>GCA355488278SLC2A2c.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)
3g.171005350A=CA1420164796SLC2A2c.898T= (p.Tyr300=)
c.*365T= (n.*365T=)
c.541T= (p.Tyr181=)
c.379T= (p.Tyr127=)
c.853T= (p.Tyr285=)
c.679T= (p.Tyr227=)
3g.171005350A>CCA355488280SLC2A2c.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)
3g.171005350A>GCA2702552SLC2A2c.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
3g.171005350A>TCA355488284SLC2A2c.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)
3g.171005351G>ACA436774860SLC2A2c.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
3g.171005351G>CCA355488288SLC2A2c.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)
3g.171005351G>TCA355488286SLC2A2c.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)

Number of alleles fetched