Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73610432T>ACA450914529SLC17A5c.1227A>T (p.Gly409=)
c.1176A>T (p.Gly392=)
c.1029A>T (p.Gly343=)
c.1111+4883A>T (n.1111+4883A>T)
c.996A>T (p.Gly332=)
c.1248A>T (p.Gly416=)
c.1140A>T (p.Gly380=)
c.1068A>T (p.Gly356=)
c.1224A>T (p.Gly408=)
c.909A>T (p.Gly303=)
6g.73610432T>CCA450914528SLC17A5c.1227A>G (p.Gly409=)
c.1176A>G (p.Gly392=)
c.1029A>G (p.Gly343=)
c.1111+4883A>G (n.1111+4883A>G)
c.996A>G (p.Gly332=)
c.1248A>G (p.Gly416=)
c.1140A>G (p.Gly380=)
c.1068A>G (p.Gly356=)
c.1224A>G (p.Gly408=)
c.909A>G (p.Gly303=)
6g.73610432T>GCA450914527SLC17A5c.1227A>C (p.Gly409=)
c.1176A>C (p.Gly392=)
c.1029A>C (p.Gly343=)
c.1111+4883A>C (n.1111+4883A>C)
c.996A>C (p.Gly332=)
c.1248A>C (p.Gly416=)
c.1140A>C (p.Gly380=)
c.1068A>C (p.Gly356=)
c.1224A>C (p.Gly408=)
c.909A>C (p.Gly303=)
6g.73610433C>ACA364720942SLC17A5c.1226G>T (p.Gly409Val)
c.1175G>T (p.Gly392Val)
c.1028G>T (p.Gly343Val)
c.1111+4882G>T (n.1111+4882G>T)
c.995G>T (p.Gly332Val)
c.1247G>T (p.Gly416Val)
c.1139G>T (p.Gly380Val)
c.1067G>T (p.Gly356Val)
c.1223G>T (p.Gly408Val)
c.908G>T (p.Gly303Val)
6g.73610433C=CA1638229749SLC17A5c.1226G= (p.Gly409=)
c.1175G= (p.Gly392=)
c.1028G= (p.Gly343=)
c.1111+4882G= (n.1111+4882G=)
c.995G= (p.Gly332=)
c.1247G= (p.Gly416=)
c.1139G= (p.Gly380=)
c.1067G= (p.Gly356=)
c.1223G= (p.Gly408=)
c.908G= (p.Gly303=)
6g.73610433C>GCA364720944SLC17A5c.1226G>C (p.Gly409Ala)
c.1175G>C (p.Gly392Ala)
c.1028G>C (p.Gly343Ala)
c.1111+4882G>C (n.1111+4882G>C)
c.995G>C (p.Gly332Ala)
c.1247G>C (p.Gly416Ala)
c.1139G>C (p.Gly380Ala)
c.1067G>C (p.Gly356Ala)
c.1223G>C (p.Gly408Ala)
c.908G>C (p.Gly303Ala)
6g.73610433C>TCA263921SLC17A5c.1226G>A (p.Gly409Glu)
c.1175G>A (p.Gly392Glu)
c.1028G>A (p.Gly343Glu)
c.1111+4882G>A (n.1111+4882G>A)
c.995G>A (p.Gly332Glu)
c.1247G>A (p.Gly416Glu)
c.1139G>A (p.Gly380Glu)
c.1067G>A (p.Gly356Glu)
c.1223G>A (p.Gly408Glu)
c.908G>A (p.Gly303Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73610434C>ACA364720947SLC17A5c.1225G>T (p.Gly409Ter)
c.1174G>T (p.Gly392Ter)
c.1027G>T (p.Gly343Ter)
c.1111+4881G>T (n.1111+4881G>T)
c.994G>T (p.Gly332Ter)
c.1246G>T (p.Gly416Ter)
c.1138G>T (p.Gly380Ter)
c.1066G>T (p.Gly356Ter)
c.1222G>T (p.Gly408Ter)
c.907G>T (p.Gly303Ter)
6g.73610434C>GCA364720949SLC17A5c.1225G>C (p.Gly409Arg)
c.1174G>C (p.Gly392Arg)
c.1027G>C (p.Gly343Arg)
c.1111+4881G>C (n.1111+4881G>C)
c.994G>C (p.Gly332Arg)
c.1246G>C (p.Gly416Arg)
c.1138G>C (p.Gly380Arg)
c.1066G>C (p.Gly356Arg)
c.1222G>C (p.Gly408Arg)
c.907G>C (p.Gly303Arg)
6g.73610434C>TCA364720946SLC17A5c.1225G>A (p.Gly409Arg)
c.1174G>A (p.Gly392Arg)
c.1027G>A (p.Gly343Arg)
c.1111+4881G>A (n.1111+4881G>A)
c.994G>A (p.Gly332Arg)
c.1246G>A (p.Gly416Arg)
c.1138G>A (p.Gly380Arg)
c.1066G>A (p.Gly356Arg)
c.1222G>A (p.Gly408Arg)
c.907G>A (p.Gly303Arg)
6g.73610435A>CCA450914536SLC17A5c.1224T>G (p.Ser408=)
c.1173T>G (p.Ser391=)
c.1026T>G (p.Ser342=)
c.1111+4880T>G (n.1111+4880T>G)
c.993T>G (p.Ser331=)
c.1245T>G (p.Ser415=)
c.1137T>G (p.Ser379=)
c.1065T>G (p.Ser355=)
c.1221T>G (p.Ser407=)
c.906T>G (p.Ser302=)
6g.73610435A>GCA450914537SLC17A5c.1224T>C (p.Ser408=)
c.1173T>C (p.Ser391=)
c.1026T>C (p.Ser342=)
c.1111+4880T>C (n.1111+4880T>C)
c.993T>C (p.Ser331=)
c.1245T>C (p.Ser415=)
c.1137T>C (p.Ser379=)
c.1065T>C (p.Ser355=)
c.1221T>C (p.Ser407=)
c.906T>C (p.Ser302=)
6g.73610435A>TCA450914539SLC17A5c.1224T>A (p.Ser408=)
c.1173T>A (p.Ser391=)
c.1026T>A (p.Ser342=)
c.1111+4880T>A (n.1111+4880T>A)
c.993T>A (p.Ser331=)
c.1245T>A (p.Ser415=)
c.1137T>A (p.Ser379=)
c.1065T>A (p.Ser355=)
c.1221T>A (p.Ser407=)
c.906T>A (p.Ser302=)
6g.73610435_73610436delinsAGCA1638229750SLC17A5c.1223_1224delinsCT (p.Ser408=)
c.1172_1173delinsCT (p.Ser391=)
c.1025_1026delinsCT (p.Ser342=)
c.1111+4879_1111+4880delinsCT (n.1111+4879_1111+4880delinsCT)
c.992_993delinsCT (p.Ser331=)
c.1244_1245delinsCT (p.Ser415=)
c.1136_1137delinsCT (p.Ser379=)
c.1064_1065delinsCT (p.Ser355=)
c.1220_1221delinsCT (p.Ser407=)
c.905_906delinsCT (p.Ser302=)
6g.73610436delCA140979010SLC17A5c.1223del (p.Ser408LeufsTer?)
c.1172del (p.Ser391LeufsTer?)
c.1025del (p.Ser342LeufsTer?)
c.1111+4879del (n.1111+4879del)
c.992del (p.Ser331LeufsTer?)
c.1223del (p.Ser408LeufsTer29)
c.1244del (p.Ser415LeufsTer?)
c.1136del (p.Ser379LeufsTer?)
c.1064del (p.Ser355LeufsTer?)
c.1220del (p.Ser407LeufsTer?)
c.905del (p.Ser302LeufsTer?)
 ClinVar dbSNP gnomAD v4
6g.73610436G>ACA364720951SLC17A5c.1223C>T (p.Ser408Phe)
c.1172C>T (p.Ser391Phe)
c.1025C>T (p.Ser342Phe)
c.1111+4879C>T (n.1111+4879C>T)
c.992C>T (p.Ser331Phe)
c.1244C>T (p.Ser415Phe)
c.1136C>T (p.Ser379Phe)
c.1064C>T (p.Ser355Phe)
c.1220C>T (p.Ser407Phe)
c.905C>T (p.Ser302Phe)
6g.73610436G>CCA364720952SLC17A5c.1223C>G (p.Ser408Cys)
c.1172C>G (p.Ser391Cys)
c.1025C>G (p.Ser342Cys)
c.1111+4879C>G (n.1111+4879C>G)
c.992C>G (p.Ser331Cys)
c.1244C>G (p.Ser415Cys)
c.1136C>G (p.Ser379Cys)
c.1064C>G (p.Ser355Cys)
c.1220C>G (p.Ser407Cys)
c.905C>G (p.Ser302Cys)
6g.73610436G>TCA364720953SLC17A5c.1223C>A (p.Ser408Tyr)
c.1172C>A (p.Ser391Tyr)
c.1025C>A (p.Ser342Tyr)
c.1111+4879C>A (n.1111+4879C>A)
c.992C>A (p.Ser331Tyr)
c.1244C>A (p.Ser415Tyr)
c.1136C>A (p.Ser379Tyr)
c.1064C>A (p.Ser355Tyr)
c.1220C>A (p.Ser407Tyr)
c.905C>A (p.Ser302Tyr)
6g.73610437A>CCA364720956SLC17A5c.1222T>G (p.Ser408Ala)
c.1171T>G (p.Ser391Ala)
c.1024T>G (p.Ser342Ala)
c.1111+4878T>G (n.1111+4878T>G)
c.991T>G (p.Ser331Ala)
c.1243T>G (p.Ser415Ala)
c.1135T>G (p.Ser379Ala)
c.1063T>G (p.Ser355Ala)
c.1219T>G (p.Ser407Ala)
c.904T>G (p.Ser302Ala)
6g.73610437A>GCA364720957SLC17A5c.1222T>C (p.Ser408Pro)
c.1171T>C (p.Ser391Pro)
c.1024T>C (p.Ser342Pro)
c.1111+4878T>C (n.1111+4878T>C)
c.991T>C (p.Ser331Pro)
c.1243T>C (p.Ser415Pro)
c.1135T>C (p.Ser379Pro)
c.1063T>C (p.Ser355Pro)
c.1219T>C (p.Ser407Pro)
c.904T>C (p.Ser302Pro)
6g.73610437A>TCA364720959SLC17A5c.1222T>A (p.Ser408Thr)
c.1171T>A (p.Ser391Thr)
c.1024T>A (p.Ser342Thr)
c.1111+4878T>A (n.1111+4878T>A)
c.991T>A (p.Ser331Thr)
c.1243T>A (p.Ser415Thr)
c.1135T>A (p.Ser379Thr)
c.1063T>A (p.Ser355Thr)
c.1219T>A (p.Ser407Thr)
c.904T>A (p.Ser302Thr)
6g.73610438delCA364720960SLC17A5c.1222del (p.Ser408LeufsTer?)
c.1171del (p.Ser391LeufsTer?)
c.1024del (p.Ser342LeufsTer?)
c.1111+4878del (n.1111+4878del)
c.991del (p.Ser331LeufsTer?)
c.1222del (p.Ser408LeufsTer29)
c.1243del (p.Ser415LeufsTer?)
c.1135del (p.Ser379LeufsTer?)
c.1063del (p.Ser355LeufsTer?)
c.1219del (p.Ser407LeufsTer?)
c.904del (p.Ser302LeufsTer?)
6g.73610438A>CCA450914548SLC17A5c.1221T>G (p.Ser407=)
c.1170T>G (p.Ser390=)
c.1023T>G (p.Ser341=)
c.1111+4877T>G (n.1111+4877T>G)
c.990T>G (p.Ser330=)
c.1242T>G (p.Ser414=)
c.1134T>G (p.Ser378=)
c.1062T>G (p.Ser354=)
c.1218T>G (p.Ser406=)
c.903T>G (p.Ser301=)
6g.73610438A>GCA450914546SLC17A5c.1221T>C (p.Ser407=)
c.1170T>C (p.Ser390=)
c.1023T>C (p.Ser341=)
c.1111+4877T>C (n.1111+4877T>C)
c.990T>C (p.Ser330=)
c.1242T>C (p.Ser414=)
c.1134T>C (p.Ser378=)
c.1062T>C (p.Ser354=)
c.1218T>C (p.Ser406=)
c.903T>C (p.Ser301=)
 gnomAD v4 COSMIC
6g.73610438A>TCA450914550SLC17A5c.1221T>A (p.Ser407=)
c.1170T>A (p.Ser390=)
c.1023T>A (p.Ser341=)
c.1111+4877T>A (n.1111+4877T>A)
c.990T>A (p.Ser330=)
c.1242T>A (p.Ser414=)
c.1134T>A (p.Ser378=)
c.1062T>A (p.Ser354=)
c.1218T>A (p.Ser406=)
c.903T>A (p.Ser301=)
6g.73610439G>ACA364720962SLC17A5c.1220C>T (p.Ser407Phe)
c.1169C>T (p.Ser390Phe)
c.1022C>T (p.Ser341Phe)
c.1111+4876C>T (n.1111+4876C>T)
c.989C>T (p.Ser330Phe)
c.1241C>T (p.Ser414Phe)
c.1133C>T (p.Ser378Phe)
c.1061C>T (p.Ser354Phe)
c.1217C>T (p.Ser406Phe)
c.902C>T (p.Ser301Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73610439G>CCA364720964SLC17A5c.1220C>G (p.Ser407Cys)
c.1169C>G (p.Ser390Cys)
c.1022C>G (p.Ser341Cys)
c.1111+4876C>G (n.1111+4876C>G)
c.989C>G (p.Ser330Cys)
c.1241C>G (p.Ser414Cys)
c.1133C>G (p.Ser378Cys)
c.1061C>G (p.Ser354Cys)
c.1217C>G (p.Ser406Cys)
c.902C>G (p.Ser301Cys)
6g.73610439G=CA1638229751SLC17A5c.1220C= (p.Ser407=)
c.1169C= (p.Ser390=)
c.1022C= (p.Ser341=)
c.1111+4876C= (n.1111+4876C=)
c.989C= (p.Ser330=)
c.1241C= (p.Ser414=)
c.1133C= (p.Ser378=)
c.1061C= (p.Ser354=)
c.1217C= (p.Ser406=)
c.902C= (p.Ser301=)
6g.73610439G>TCA364720965SLC17A5c.1220C>A (p.Ser407Tyr)
c.1169C>A (p.Ser390Tyr)
c.1022C>A (p.Ser341Tyr)
c.1111+4876C>A (n.1111+4876C>A)
c.989C>A (p.Ser330Tyr)
c.1241C>A (p.Ser414Tyr)
c.1133C>A (p.Ser378Tyr)
c.1061C>A (p.Ser354Tyr)
c.1217C>A (p.Ser406Tyr)
c.902C>A (p.Ser301Tyr)
6g.73610440A>CCA364720967SLC17A5c.1219T>G (p.Ser407Ala)
c.1168T>G (p.Ser390Ala)
c.1021T>G (p.Ser341Ala)
c.1111+4875T>G (n.1111+4875T>G)
c.988T>G (p.Ser330Ala)
c.1240T>G (p.Ser414Ala)
c.1132T>G (p.Ser378Ala)
c.1060T>G (p.Ser354Ala)
c.1216T>G (p.Ser406Ala)
c.901T>G (p.Ser301Ala)
6g.73610440A>GCA364720969SLC17A5c.1219T>C (p.Ser407Pro)
c.1168T>C (p.Ser390Pro)
c.1021T>C (p.Ser341Pro)
c.1111+4875T>C (n.1111+4875T>C)
c.988T>C (p.Ser330Pro)
c.1240T>C (p.Ser414Pro)
c.1132T>C (p.Ser378Pro)
c.1060T>C (p.Ser354Pro)
c.1216T>C (p.Ser406Pro)
c.901T>C (p.Ser301Pro)
6g.73610440A>TCA364720970SLC17A5c.1219T>A (p.Ser407Thr)
c.1168T>A (p.Ser390Thr)
c.1021T>A (p.Ser341Thr)
c.1111+4875T>A (n.1111+4875T>A)
c.988T>A (p.Ser330Thr)
c.1240T>A (p.Ser414Thr)
c.1132T>A (p.Ser378Thr)
c.1060T>A (p.Ser354Thr)
c.1216T>A (p.Ser406Thr)
c.901T>A (p.Ser301Thr)
 gnomAD v4
6g.73610441G>ACA450914556SLC17A5c.1218C>T (p.Cys406=)
c.1167C>T (p.Cys389=)
c.1020C>T (p.Cys340=)
c.1111+4874C>T (n.1111+4874C>T)
c.987C>T (p.Cys329=)
c.1239C>T (p.Cys413=)
c.1131C>T (p.Cys377=)
c.1059C>T (p.Cys353=)
c.1215C>T (p.Cys405=)
c.900C>T (p.Cys300=)
6g.73610441G>CCA364720972SLC17A5c.1218C>G (p.Cys406Trp)
c.1167C>G (p.Cys389Trp)
c.1020C>G (p.Cys340Trp)
c.1111+4874C>G (n.1111+4874C>G)
c.987C>G (p.Cys329Trp)
c.1239C>G (p.Cys413Trp)
c.1131C>G (p.Cys377Trp)
c.1059C>G (p.Cys353Trp)
c.1215C>G (p.Cys405Trp)
c.900C>G (p.Cys300Trp)
6g.73610441G>TCA364720974SLC17A5c.1218C>A (p.Cys406Ter)
c.1167C>A (p.Cys389Ter)
c.1020C>A (p.Cys340Ter)
c.1111+4874C>A (n.1111+4874C>A)
c.987C>A (p.Cys329Ter)
c.1239C>A (p.Cys413Ter)
c.1131C>A (p.Cys377Ter)
c.1059C>A (p.Cys353Ter)
c.1215C>A (p.Cys405Ter)
c.900C>A (p.Cys300Ter)
6g.73610442C>ACA364720975SLC17A5c.1217G>T (p.Cys406Phe)
c.1166G>T (p.Cys389Phe)
c.1019G>T (p.Cys340Phe)
c.1111+4873G>T (n.1111+4873G>T)
c.986G>T (p.Cys329Phe)
c.1238G>T (p.Cys413Phe)
c.1130G>T (p.Cys377Phe)
c.1058G>T (p.Cys353Phe)
c.1214G>T (p.Cys405Phe)
c.899G>T (p.Cys300Phe)
6g.73610442C>GCA364720977SLC17A5c.1217G>C (p.Cys406Ser)
c.1166G>C (p.Cys389Ser)
c.1019G>C (p.Cys340Ser)
c.1111+4873G>C (n.1111+4873G>C)
c.986G>C (p.Cys329Ser)
c.1238G>C (p.Cys413Ser)
c.1130G>C (p.Cys377Ser)
c.1058G>C (p.Cys353Ser)
c.1214G>C (p.Cys405Ser)
c.899G>C (p.Cys300Ser)
6g.73610442C>TCA364720978SLC17A5c.1217G>A (p.Cys406Tyr)
c.1166G>A (p.Cys389Tyr)
c.1019G>A (p.Cys340Tyr)
c.1111+4873G>A (n.1111+4873G>A)
c.986G>A (p.Cys329Tyr)
c.1238G>A (p.Cys413Tyr)
c.1130G>A (p.Cys377Tyr)
c.1058G>A (p.Cys353Tyr)
c.1214G>A (p.Cys405Tyr)
c.899G>A (p.Cys300Tyr)
6g.73610443A>CCA364720980SLC17A5c.1216T>G (p.Cys406Gly)
c.1165T>G (p.Cys389Gly)
c.1018T>G (p.Cys340Gly)
c.1111+4872T>G (n.1111+4872T>G)
c.985T>G (p.Cys329Gly)
c.1237T>G (p.Cys413Gly)
c.1129T>G (p.Cys377Gly)
c.1057T>G (p.Cys353Gly)
c.1213T>G (p.Cys405Gly)
c.898T>G (p.Cys300Gly)
6g.73610443A>GCA364720982SLC17A5c.1216T>C (p.Cys406Arg)
c.1165T>C (p.Cys389Arg)
c.1018T>C (p.Cys340Arg)
c.1111+4872T>C (n.1111+4872T>C)
c.985T>C (p.Cys329Arg)
c.1237T>C (p.Cys413Arg)
c.1129T>C (p.Cys377Arg)
c.1057T>C (p.Cys353Arg)
c.1213T>C (p.Cys405Arg)
c.898T>C (p.Cys300Arg)
6g.73610443A>TCA364720983SLC17A5c.1216T>A (p.Cys406Ser)
c.1165T>A (p.Cys389Ser)
c.1018T>A (p.Cys340Ser)
c.1111+4872T>A (n.1111+4872T>A)
c.985T>A (p.Cys329Ser)
c.1237T>A (p.Cys413Ser)
c.1129T>A (p.Cys377Ser)
c.1057T>A (p.Cys353Ser)
c.1213T>A (p.Cys405Ser)
c.898T>A (p.Cys300Ser)
6g.73610444A>CCA364720985SLC17A5c.1215T>G (p.Phe405Leu)
c.1164T>G (p.Phe388Leu)
c.1017T>G (p.Phe339Leu)
c.1111+4871T>G (n.1111+4871T>G)
c.984T>G (p.Phe328Leu)
c.1236T>G (p.Phe412Leu)
c.1128T>G (p.Phe376Leu)
c.1056T>G (p.Phe352Leu)
c.1212T>G (p.Phe404Leu)
c.897T>G (p.Phe299Leu)
6g.73610444A>GCA450914566SLC17A5c.1215T>C (p.Phe405=)
c.1164T>C (p.Phe388=)
c.1017T>C (p.Phe339=)
c.1111+4871T>C (n.1111+4871T>C)
c.984T>C (p.Phe328=)
c.1236T>C (p.Phe412=)
c.1128T>C (p.Phe376=)
c.1056T>C (p.Phe352=)
c.1212T>C (p.Phe404=)
c.897T>C (p.Phe299=)
 ClinVar dbSNP
6g.73610444A>TCA364720987SLC17A5c.1215T>A (p.Phe405Leu)
c.1164T>A (p.Phe388Leu)
c.1017T>A (p.Phe339Leu)
c.1111+4871T>A (n.1111+4871T>A)
c.984T>A (p.Phe328Leu)
c.1236T>A (p.Phe412Leu)
c.1128T>A (p.Phe376Leu)
c.1056T>A (p.Phe352Leu)
c.1212T>A (p.Phe404Leu)
c.897T>A (p.Phe299Leu)
6g.73610445A>CCA364720988SLC17A5c.1214T>G (p.Phe405Cys)
c.1163T>G (p.Phe388Cys)
c.1016T>G (p.Phe339Cys)
c.1111+4870T>G (n.1111+4870T>G)
c.983T>G (p.Phe328Cys)
c.1235T>G (p.Phe412Cys)
c.1127T>G (p.Phe376Cys)
c.1055T>G (p.Phe352Cys)
c.1211T>G (p.Phe404Cys)
c.896T>G (p.Phe299Cys)
 gnomAD v4
6g.73610445A>GCA364720990SLC17A5c.1214T>C (p.Phe405Ser)
c.1163T>C (p.Phe388Ser)
c.1016T>C (p.Phe339Ser)
c.1111+4870T>C (n.1111+4870T>C)
c.983T>C (p.Phe328Ser)
c.1235T>C (p.Phe412Ser)
c.1127T>C (p.Phe376Ser)
c.1055T>C (p.Phe352Ser)
c.1211T>C (p.Phe404Ser)
c.896T>C (p.Phe299Ser)
6g.73610445A>TCA364720991SLC17A5c.1214T>A (p.Phe405Tyr)
c.1163T>A (p.Phe388Tyr)
c.1016T>A (p.Phe339Tyr)
c.1111+4870T>A (n.1111+4870T>A)
c.983T>A (p.Phe328Tyr)
c.1235T>A (p.Phe412Tyr)
c.1127T>A (p.Phe376Tyr)
c.1055T>A (p.Phe352Tyr)
c.1211T>A (p.Phe404Tyr)
c.896T>A (p.Phe299Tyr)
6g.73610446A>CCA364720996SLC17A5c.1213T>G (p.Phe405Val)
c.1162T>G (p.Phe388Val)
c.1015T>G (p.Phe339Val)
c.1111+4869T>G (n.1111+4869T>G)
c.982T>G (p.Phe328Val)
c.1234T>G (p.Phe412Val)
c.1126T>G (p.Phe376Val)
c.1054T>G (p.Phe352Val)
c.1210T>G (p.Phe404Val)
c.895T>G (p.Phe299Val)
6g.73610446A>GCA364720995SLC17A5c.1213T>C (p.Phe405Leu)
c.1162T>C (p.Phe388Leu)
c.1015T>C (p.Phe339Leu)
c.1111+4869T>C (n.1111+4869T>C)
c.982T>C (p.Phe328Leu)
c.1234T>C (p.Phe412Leu)
c.1126T>C (p.Phe376Leu)
c.1054T>C (p.Phe352Leu)
c.1210T>C (p.Phe404Leu)
c.895T>C (p.Phe299Leu)
6g.73610446A>TCA364720993SLC17A5c.1213T>A (p.Phe405Ile)
c.1162T>A (p.Phe388Ile)
c.1015T>A (p.Phe339Ile)
c.1111+4869T>A (n.1111+4869T>A)
c.982T>A (p.Phe328Ile)
c.1234T>A (p.Phe412Ile)
c.1126T>A (p.Phe376Ile)
c.1054T>A (p.Phe352Ile)
c.1210T>A (p.Phe404Ile)
c.895T>A (p.Phe299Ile)

Number of alleles fetched