Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154532701A=CA2466723452G6PDc.1153T= (p.Cys385=)
c.1156T= (p.Cys386=)
c.1016T=
c.1019T=
c.1005T= (n.1005T=)
c.*66T= (n.*66T=)
c.*613T= (n.*613T=)
c.*113T= (n.*113T=)
c.*995T= (n.*995T=)
c.1291T= (p.Cys431=)
c.1243T= (p.Cys415=)
n.374T=
c.1246T= (p.Cys416=)
Xg.154532701A>CCA415234107G6PDc.1153T>G (p.Cys385Gly)
c.1156T>G (p.Cys386Gly)
c.1016T>G
c.1019T>G
c.1005T>G (n.1005T>G)
c.*66T>G (n.*66T>G)
c.*613T>G (n.*613T>G)
c.*113T>G (n.*113T>G)
c.*995T>G (n.*995T>G)
c.1291T>G (p.Cys431Gly)
c.1243T>G (p.Cys415Gly)
n.374T>G
c.1246T>G (p.Cys416Gly)
 ClinVar
Xg.154532701A>GCA120972G6PDc.1153T>C (p.Cys385Arg)
c.1156T>C (p.Cys386Arg)
c.1016T>C
c.1019T>C
c.1005T>C (n.1005T>C)
c.*66T>C (n.*66T>C)
c.*613T>C (n.*613T>C)
c.*113T>C (n.*113T>C)
c.*995T>C (n.*995T>C)
c.1291T>C (p.Cys431Arg)
c.1243T>C (p.Cys415Arg)
n.374T>C
c.1246T>C (p.Cys416Arg)
 ClinVar dbSNP
Xg.154532701A>TCA415234106G6PDc.1153T>A (p.Cys385Ser)
c.1156T>A (p.Cys386Ser)
c.1016T>A
c.1019T>A
c.1005T>A (n.1005T>A)
c.*66T>A (n.*66T>A)
c.*613T>A (n.*613T>A)
c.*113T>A (n.*113T>A)
c.*995T>A (n.*995T>A)
c.1291T>A (p.Cys431Ser)
c.1243T>A (p.Cys415Ser)
n.374T>A
c.1246T>A (p.Cys416Ser)
Xg.154532702C>ACA415234108G6PDc.1152G>T (p.Gln384His)
c.1155G>T (p.Gln385His)
c.1015G>T
c.1018G>T
c.1004G>T (n.1004G>T)
c.*65G>T (n.*65G>T)
c.*612G>T (n.*612G>T)
c.*112G>T (n.*112G>T)
c.*994G>T (n.*994G>T)
c.1290G>T (p.Gln430His)
c.1242G>T (p.Gln414His)
n.373G>T
c.1245G>T (p.Gln415His)
Xg.154532702C=CA2466723453G6PDc.1152G= (p.Gln384=)
c.1155G= (p.Gln385=)
c.1015G=
c.1018G=
c.1004G= (n.1004G=)
c.*65G= (n.*65G=)
c.*612G= (n.*612G=)
c.*112G= (n.*112G=)
c.*994G= (n.*994G=)
c.1290G= (p.Gln430=)
c.1242G= (p.Gln414=)
n.373G=
c.1245G= (p.Gln415=)
Xg.154532702C>GCA10566072G6PDc.1152G>C (p.Gln384His)
c.1155G>C (p.Gln385His)
c.1015G>C
c.1018G>C
c.1004G>C (n.1004G>C)
c.*65G>C (n.*65G>C)
c.*612G>C (n.*612G>C)
c.*112G>C (n.*112G>C)
c.*994G>C (n.*994G>C)
c.1290G>C (p.Gln430His)
c.1242G>C (p.Gln414His)
n.373G>C
c.1245G>C (p.Gln415His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532702C>TCA519714494G6PDc.1152G>A (p.Gln384=)
c.1155G>A (p.Gln385=)
c.1015G>A
c.1018G>A
c.1004G>A (n.1004G>A)
c.*65G>A (n.*65G>A)
c.*612G>A (n.*612G>A)
c.*112G>A (n.*112G>A)
c.*994G>A (n.*994G>A)
c.1290G>A (p.Gln430=)
c.1242G>A (p.Gln414=)
n.373G>A
c.1245G>A (p.Gln415=)
Xg.154532703T>ACA415234109G6PDc.1151A>T (p.Gln384Leu)
c.1154A>T (p.Gln385Leu)
c.1014A>T
c.1017A>T
c.1003A>T (n.1003A>T)
c.*64A>T (n.*64A>T)
c.*611A>T (n.*611A>T)
c.*111A>T (n.*111A>T)
c.*993A>T (n.*993A>T)
c.1289A>T (p.Gln430Leu)
c.1241A>T (p.Gln414Leu)
n.372A>T
c.1244A>T (p.Gln415Leu)
Xg.154532703T>CCA415234110G6PDc.1151A>G (p.Gln384Arg)
c.1154A>G (p.Gln385Arg)
c.1014A>G
c.1017A>G
c.1003A>G (n.1003A>G)
c.*64A>G (n.*64A>G)
c.*611A>G (n.*611A>G)
c.*111A>G (n.*111A>G)
c.*993A>G (n.*993A>G)
c.1289A>G (p.Gln430Arg)
c.1241A>G (p.Gln414Arg)
n.372A>G
c.1244A>G (p.Gln415Arg)
Xg.154532703T>GCA415234111G6PDc.1151A>C (p.Gln384Pro)
c.1154A>C (p.Gln385Pro)
c.1014A>C
c.1017A>C
c.1003A>C (n.1003A>C)
c.*64A>C (n.*64A>C)
c.*611A>C (n.*611A>C)
c.*111A>C (n.*111A>C)
c.*993A>C (n.*993A>C)
c.1289A>C (p.Gln430Pro)
c.1241A>C (p.Gln414Pro)
n.372A>C
c.1244A>C (p.Gln415Pro)
Xg.154532704G>ACA415234112G6PDc.1150C>T (p.Gln384Ter)
c.1153C>T (p.Gln385Ter)
c.1013C>T
c.1016C>T
c.1002C>T (n.1002C>T)
c.*63C>T (n.*63C>T)
c.*610C>T (n.*610C>T)
c.*110C>T (n.*110C>T)
c.*992C>T (n.*992C>T)
c.1288C>T (p.Gln430Ter)
c.1240C>T (p.Gln414Ter)
n.371C>T
c.1243C>T (p.Gln415Ter)
Xg.154532704G>CCA415234113G6PDc.1150C>G (p.Gln384Glu)
c.1153C>G (p.Gln385Glu)
c.1013C>G
c.1016C>G
c.1002C>G (n.1002C>G)
c.*63C>G (n.*63C>G)
c.*610C>G (n.*610C>G)
c.*110C>G (n.*110C>G)
c.*992C>G (n.*992C>G)
c.1288C>G (p.Gln430Glu)
c.1240C>G (p.Gln414Glu)
n.371C>G
c.1243C>G (p.Gln415Glu)
Xg.154532704G>TCA415234114G6PDc.1150C>A (p.Gln384Lys)
c.1153C>A (p.Gln385Lys)
c.1013C>A
c.1016C>A
c.1002C>A (n.1002C>A)
c.*63C>A (n.*63C>A)
c.*610C>A (n.*610C>A)
c.*110C>A (n.*110C>A)
c.*992C>A (n.*992C>A)
c.1288C>A (p.Gln430Lys)
c.1240C>A (p.Gln414Lys)
n.371C>A
c.1243C>A (p.Gln415Lys)
Xg.154532705C>ACA415234115G6PDc.1149G>T (p.Gln383His)
c.1152G>T (p.Gln384His)
c.1012G>T
c.1015G>T
c.1001G>T (n.1001G>T)
c.*62G>T (n.*62G>T)
c.*609G>T (n.*609G>T)
c.*109G>T (n.*109G>T)
c.*991G>T (n.*991G>T)
c.1287G>T (p.Gln429His)
c.1239G>T (p.Gln413His)
n.370G>T
c.1242G>T (p.Gln414His)
 COSMIC
Xg.154532705C>GCA415234116G6PDc.1149G>C (p.Gln383His)
c.1152G>C (p.Gln384His)
c.1012G>C
c.1015G>C
c.1001G>C (n.1001G>C)
c.*62G>C (n.*62G>C)
c.*609G>C (n.*609G>C)
c.*109G>C (n.*109G>C)
c.*991G>C (n.*991G>C)
c.1287G>C (p.Gln429His)
c.1239G>C (p.Gln413His)
n.370G>C
c.1242G>C (p.Gln414His)
 gnomAD v4
Xg.154532705C>TCA519714495G6PDc.1149G>A (p.Gln383=)
c.1152G>A (p.Gln384=)
c.1012G>A
c.1015G>A
c.1001G>A (n.1001G>A)
c.*62G>A (n.*62G>A)
c.*609G>A (n.*609G>A)
c.*109G>A (n.*109G>A)
c.*991G>A (n.*991G>A)
c.1287G>A (p.Gln429=)
c.1239G>A (p.Gln413=)
n.370G>A
c.1242G>A (p.Gln414=)
 gnomAD v4
Xg.154532706T>ACA415234118G6PDc.1148A>T (p.Gln383Leu)
c.1151A>T (p.Gln384Leu)
c.1011A>T
c.1014A>T
c.1000A>T (n.1000A>T)
c.*61A>T (n.*61A>T)
c.*608A>T (n.*608A>T)
c.*108A>T (n.*108A>T)
c.*990A>T (n.*990A>T)
c.1286A>T (p.Gln429Leu)
c.1238A>T (p.Gln413Leu)
n.369A>T
c.1241A>T (p.Gln414Leu)
Xg.154532706T>CCA415234119G6PDc.1148A>G (p.Gln383Arg)
c.1151A>G (p.Gln384Arg)
c.1011A>G
c.1014A>G
c.1000A>G (n.1000A>G)
c.*61A>G (n.*61A>G)
c.*608A>G (n.*608A>G)
c.*108A>G (n.*108A>G)
c.*990A>G (n.*990A>G)
c.1286A>G (p.Gln429Arg)
c.1238A>G (p.Gln413Arg)
n.369A>G
c.1241A>G (p.Gln414Arg)
Xg.154532706T>GCA415234117G6PDc.1148A>C (p.Gln383Pro)
c.1151A>C (p.Gln384Pro)
c.1011A>C
c.1014A>C
c.1000A>C (n.1000A>C)
c.*61A>C (n.*61A>C)
c.*608A>C (n.*608A>C)
c.*108A>C (n.*108A>C)
c.*990A>C (n.*990A>C)
c.1286A>C (p.Gln429Pro)
c.1238A>C (p.Gln413Pro)
n.369A>C
c.1241A>C (p.Gln414Pro)
Xg.154532707G>ACA415234122G6PDc.1147C>T (p.Gln383Ter)
c.1150C>T (p.Gln384Ter)
c.1010C>T
c.1013C>T
c.999C>T (n.999C>T)
c.*60C>T (n.*60C>T)
c.*607C>T (n.*607C>T)
c.*107C>T (n.*107C>T)
c.*989C>T (n.*989C>T)
c.1285C>T (p.Gln429Ter)
c.1237C>T (p.Gln413Ter)
n.368C>T
c.1240C>T (p.Gln414Ter)
Xg.154532707G>CCA415234120G6PDc.1147C>G (p.Gln383Glu)
c.1150C>G (p.Gln384Glu)
c.1010C>G
c.1013C>G
c.999C>G (n.999C>G)
c.*60C>G (n.*60C>G)
c.*607C>G (n.*607C>G)
c.*107C>G (n.*107C>G)
c.*989C>G (n.*989C>G)
c.1285C>G (p.Gln429Glu)
c.1237C>G (p.Gln413Glu)
n.368C>G
c.1240C>G (p.Gln414Glu)
Xg.154532707G>TCA415234121G6PDc.1147C>A (p.Gln383Lys)
c.1150C>A (p.Gln384Lys)
c.1010C>A
c.1013C>A
c.999C>A (n.999C>A)
c.*60C>A (n.*60C>A)
c.*607C>A (n.*607C>A)
c.*107C>A (n.*107C>A)
c.*989C>A (n.*989C>A)
c.1285C>A (p.Gln429Lys)
c.1237C>A (p.Gln413Lys)
n.368C>A
c.1240C>A (p.Gln414Lys)
Xg.154532708G>ACA519714496G6PDc.1146C>T (p.His382=)
c.1149C>T (p.His383=)
c.1009C>T
c.1012C>T
c.998C>T (n.998C>T)
c.*59C>T (n.*59C>T)
c.*606C>T (n.*606C>T)
c.*106C>T (n.*106C>T)
c.*988C>T (n.*988C>T)
c.1284C>T (p.His428=)
c.1236C>T (p.His412=)
n.367C>T
c.1239C>T (p.His413=)
Xg.154532708G>CCA10566073G6PDc.1146C>G (p.His382Gln)
c.1149C>G (p.His383Gln)
c.1009C>G
c.1012C>G
c.998C>G (n.998C>G)
c.*59C>G (n.*59C>G)
c.*606C>G (n.*606C>G)
c.*106C>G (n.*106C>G)
c.*988C>G (n.*988C>G)
c.1284C>G (p.His428Gln)
c.1236C>G (p.His412Gln)
n.367C>G
c.1239C>G (p.His413Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532708G=CA2466723454G6PDc.1146C= (p.His382=)
c.1149C= (p.His383=)
c.1009C=
c.1012C=
c.998C= (n.998C=)
c.*59C= (n.*59C=)
c.*606C= (n.*606C=)
c.*106C= (n.*106C=)
c.*988C= (n.*988C=)
c.1284C= (p.His428=)
c.1236C= (p.His412=)
n.367C=
c.1239C= (p.His413=)
Xg.154532708G>TCA415234123G6PDc.1146C>A (p.His382Gln)
c.1149C>A (p.His383Gln)
c.1009C>A
c.1012C>A
c.998C>A (n.998C>A)
c.*59C>A (n.*59C>A)
c.*606C>A (n.*606C>A)
c.*106C>A (n.*106C>A)
c.*988C>A (n.*988C>A)
c.1284C>A (p.His428Gln)
c.1236C>A (p.His412Gln)
n.367C>A
c.1239C>A (p.His413Gln)
Xg.154532709T>ACA415234124G6PDc.1145A>T (p.His382Leu)
c.1148A>T (p.His383Leu)
c.1008A>T
c.1011A>T
c.997A>T (n.997A>T)
c.*58A>T (n.*58A>T)
c.*605A>T (n.*605A>T)
c.*105A>T (n.*105A>T)
c.*987A>T (n.*987A>T)
c.1283A>T (p.His428Leu)
c.1235A>T (p.His412Leu)
n.366A>T
c.1238A>T (p.His413Leu)
Xg.154532709T>CCA415234125G6PDc.1145A>G (p.His382Arg)
c.1148A>G (p.His383Arg)
c.1008A>G
c.1011A>G
c.997A>G (n.997A>G)
c.*58A>G (n.*58A>G)
c.*605A>G (n.*605A>G)
c.*105A>G (n.*105A>G)
c.*987A>G (n.*987A>G)
c.1283A>G (p.His428Arg)
c.1235A>G (p.His412Arg)
n.366A>G
c.1238A>G (p.His413Arg)
Xg.154532709T>GCA415234126G6PDc.1145A>C (p.His382Pro)
c.1148A>C (p.His383Pro)
c.1008A>C
c.1011A>C
c.997A>C (n.997A>C)
c.*58A>C (n.*58A>C)
c.*605A>C (n.*605A>C)
c.*105A>C (n.*105A>C)
c.*987A>C (n.*987A>C)
c.1283A>C (p.His428Pro)
c.1235A>C (p.His412Pro)
n.366A>C
c.1238A>C (p.His413Pro)
Xg.154532710G>ACA415234127G6PDc.1144C>T (p.His382Tyr)
c.1147C>T (p.His383Tyr)
c.1007C>T
c.1010C>T
c.996C>T (n.996C>T)
c.*57C>T (n.*57C>T)
c.*604C>T (n.*604C>T)
c.*104C>T (n.*104C>T)
c.*986C>T (n.*986C>T)
c.1282C>T (p.His428Tyr)
c.1234C>T (p.His412Tyr)
n.365C>T
c.1237C>T (p.His413Tyr)
Xg.154532710G>CCA415234128G6PDc.1144C>G (p.His382Asp)
c.1147C>G (p.His383Asp)
c.1007C>G
c.1010C>G
c.996C>G (n.996C>G)
c.*57C>G (n.*57C>G)
c.*604C>G (n.*604C>G)
c.*104C>G (n.*104C>G)
c.*986C>G (n.*986C>G)
c.1282C>G (p.His428Asp)
c.1234C>G (p.His412Asp)
n.365C>G
c.1237C>G (p.His413Asp)
Xg.154532710G>TCA415234129G6PDc.1144C>A (p.His382Asn)
c.1147C>A (p.His383Asn)
c.1007C>A
c.1010C>A
c.996C>A (n.996C>A)
c.*57C>A (n.*57C>A)
c.*604C>A (n.*604C>A)
c.*104C>A (n.*104C>A)
c.*986C>A (n.*986C>A)
c.1282C>A (p.His428Asn)
c.1234C>A (p.His412Asn)
n.365C>A
c.1237C>A (p.His413Asn)
Xg.154532711G>ACA519714497G6PDc.1143C>T (p.Phe381=)
c.1146C>T (p.Phe382=)
c.1006C>T
c.1009C>T
c.995C>T (n.995C>T)
c.*56C>T (n.*56C>T)
c.*603C>T (n.*603C>T)
c.*103C>T (n.*103C>T)
c.*985C>T (n.*985C>T)
c.1281C>T (p.Phe427=)
c.1233C>T (p.Phe411=)
n.364C>T
c.1236C>T (p.Phe412=)
 COSMIC COSMIC COSMIC
Xg.154532711G>CCA415234130G6PDc.1143C>G (p.Phe381Leu)
c.1146C>G (p.Phe382Leu)
c.1006C>G
c.1009C>G
c.995C>G (n.995C>G)
c.*56C>G (n.*56C>G)
c.*603C>G (n.*603C>G)
c.*103C>G (n.*103C>G)
c.*985C>G (n.*985C>G)
c.1281C>G (p.Phe427Leu)
c.1233C>G (p.Phe411Leu)
n.364C>G
c.1236C>G (p.Phe412Leu)
 ClinVar dbSNP
Xg.154532711G>TCA415234131G6PDc.1143C>A (p.Phe381Leu)
c.1146C>A (p.Phe382Leu)
c.1006C>A
c.1009C>A
c.995C>A (n.995C>A)
c.*56C>A (n.*56C>A)
c.*603C>A (n.*603C>A)
c.*103C>A (n.*103C>A)
c.*985C>A (n.*985C>A)
c.1281C>A (p.Phe427Leu)
c.1233C>A (p.Phe411Leu)
n.364C>A
c.1236C>A (p.Phe412Leu)
Xg.154532712A>CCA415234132G6PDc.1142T>G (p.Phe381Cys)
c.1145T>G (p.Phe382Cys)
c.1005T>G
c.1008T>G
c.994T>G (n.994T>G)
c.*55T>G (n.*55T>G)
c.*602T>G (n.*602T>G)
c.*102T>G (n.*102T>G)
c.*984T>G (n.*984T>G)
c.1280T>G (p.Phe427Cys)
c.1232T>G (p.Phe411Cys)
n.363T>G
c.1235T>G (p.Phe412Cys)
Xg.154532712A>GCA415234134G6PDc.1142T>C (p.Phe381Ser)
c.1145T>C (p.Phe382Ser)
c.1005T>C
c.1008T>C
c.994T>C (n.994T>C)
c.*55T>C (n.*55T>C)
c.*602T>C (n.*602T>C)
c.*102T>C (n.*102T>C)
c.*984T>C (n.*984T>C)
c.1280T>C (p.Phe427Ser)
c.1232T>C (p.Phe411Ser)
n.363T>C
c.1235T>C (p.Phe412Ser)
Xg.154532712A>TCA415234133G6PDc.1142T>A (p.Phe381Tyr)
c.1145T>A (p.Phe382Tyr)
c.1005T>A
c.1008T>A
c.994T>A (n.994T>A)
c.*55T>A (n.*55T>A)
c.*602T>A (n.*602T>A)
c.*102T>A (n.*102T>A)
c.*984T>A (n.*984T>A)
c.1280T>A (p.Phe427Tyr)
c.1232T>A (p.Phe411Tyr)
n.363T>A
c.1235T>A (p.Phe412Tyr)
Xg.154532713A=CA2740130039G6PDc.1141T= (p.Phe381=)
c.1144T= (p.Phe382=)
c.1004T=
c.1007T=
c.993T= (n.993T=)
c.*54T= (n.*54T=)
c.*601T= (n.*601T=)
c.*101T= (n.*101T=)
c.*983T= (n.*983T=)
c.1279T= (p.Phe427=)
c.1231T= (p.Phe411=)
n.362T=
c.1234T= (p.Phe412=)
Xg.154532713A>CCA415234135G6PDc.1141T>G (p.Phe381Val)
c.1144T>G (p.Phe382Val)
c.1004T>G
c.1007T>G
c.993T>G (n.993T>G)
c.*54T>G (n.*54T>G)
c.*601T>G (n.*601T>G)
c.*101T>G (n.*101T>G)
c.*983T>G (n.*983T>G)
c.1279T>G (p.Phe427Val)
c.1231T>G (p.Phe411Val)
n.362T>G
c.1234T>G (p.Phe412Val)
Xg.154532713A>GCA415234136G6PDc.1141T>C (p.Phe381Leu)
c.1144T>C (p.Phe382Leu)
c.1004T>C
c.1007T>C
c.993T>C (n.993T>C)
c.*54T>C (n.*54T>C)
c.*601T>C (n.*601T>C)
c.*101T>C (n.*101T>C)
c.*983T>C (n.*983T>C)
c.1279T>C (p.Phe427Leu)
c.1231T>C (p.Phe411Leu)
n.362T>C
c.1234T>C (p.Phe412Leu)
 ClinVar
Xg.154532713A>TCA415234137G6PDc.1141T>A (p.Phe381Ile)
c.1144T>A (p.Phe382Ile)
c.1004T>A
c.1007T>A
c.993T>A (n.993T>A)
c.*54T>A (n.*54T>A)
c.*601T>A (n.*601T>A)
c.*101T>A (n.*101T>A)
c.*983T>A (n.*983T>A)
c.1279T>A (p.Phe427Ile)
c.1231T>A (p.Phe411Ile)
n.362T>A
c.1234T>A (p.Phe412Ile)
Xg.154532714G>ACA519714498G6PDc.1140C>T (p.Ile380=)
c.1143C>T (p.Ile381=)
c.1003C>T
c.1006C>T
c.992C>T (n.992C>T)
c.*53C>T (n.*53C>T)
c.*600C>T (n.*600C>T)
c.*100C>T (n.*100C>T)
c.*982C>T (n.*982C>T)
c.1278C>T (p.Ile426=)
c.1230C>T (p.Ile410=)
n.361C>T
c.1233C>T (p.Ile411=)
 gnomAD v4
Xg.154532714G>CCA415234138G6PDc.1140C>G (p.Ile380Met)
c.1143C>G (p.Ile381Met)
c.1003C>G
c.1006C>G
c.992C>G (n.992C>G)
c.*53C>G (n.*53C>G)
c.*600C>G (n.*600C>G)
c.*100C>G (n.*100C>G)
c.*982C>G (n.*982C>G)
c.1278C>G (p.Ile426Met)
c.1230C>G (p.Ile410Met)
n.361C>G
c.1233C>G (p.Ile411Met)
Xg.154532714G>TCA519714499G6PDc.1140C>A (p.Ile380=)
c.1143C>A (p.Ile381=)
c.1003C>A
c.1006C>A
c.992C>A (n.992C>A)
c.*53C>A (n.*53C>A)
c.*600C>A (n.*600C>A)
c.*100C>A (n.*100C>A)
c.*982C>A (n.*982C>A)
c.1278C>A (p.Ile426=)
c.1230C>A (p.Ile410=)
n.361C>A
c.1233C>A (p.Ile411=)
Xg.154532715A=CA2740130040G6PDc.1139T= (p.Ile380=)
c.1142T= (p.Ile381=)
c.1002T=
c.1005T=
c.991T= (n.991T=)
c.*52T= (n.*52T=)
c.*599T= (n.*599T=)
c.*99T= (n.*99T=)
c.*981T= (n.*981T=)
c.1277T= (p.Ile426=)
c.1229T= (p.Ile410=)
n.360T=
c.1232T= (p.Ile411=)
Xg.154532715A>CCA415234139G6PDc.1139T>G (p.Ile380Ser)
c.1142T>G (p.Ile381Ser)
c.1002T>G
c.1005T>G
c.991T>G (n.991T>G)
c.*52T>G (n.*52T>G)
c.*599T>G (n.*599T>G)
c.*99T>G (n.*99T>G)
c.*981T>G (n.*981T>G)
c.1277T>G (p.Ile426Ser)
c.1229T>G (p.Ile410Ser)
n.360T>G
c.1232T>G (p.Ile411Ser)
Xg.154532715A>GCA415234140G6PDc.1139T>C (p.Ile380Thr)
c.1142T>C (p.Ile381Thr)
c.1002T>C
c.1005T>C
c.991T>C (n.991T>C)
c.*52T>C (n.*52T>C)
c.*599T>C (n.*599T>C)
c.*99T>C (n.*99T>C)
c.*981T>C (n.*981T>C)
c.1277T>C (p.Ile426Thr)
c.1229T>C (p.Ile410Thr)
n.360T>C
c.1232T>C (p.Ile411Thr)
 ClinVar
Xg.154532715A>TCA415234141G6PDc.1139T>A (p.Ile380Asn)
c.1142T>A (p.Ile381Asn)
c.1002T>A
c.1005T>A
c.991T>A (n.991T>A)
c.*52T>A (n.*52T>A)
c.*599T>A (n.*599T>A)
c.*99T>A (n.*99T>A)
c.*981T>A (n.*981T>A)
c.1277T>A (p.Ile426Asn)
c.1229T>A (p.Ile410Asn)
n.360T>A
c.1232T>A (p.Ile411Asn)
Xg.154532716T>ACA415234142G6PDc.1138A>T (p.Ile380Phe)
c.1141A>T (p.Ile381Phe)
c.1001A>T
c.1004A>T
c.990A>T (n.990A>T)
c.*51A>T (n.*51A>T)
c.*598A>T (n.*598A>T)
c.*98A>T (n.*98A>T)
c.*980A>T (n.*980A>T)
c.1276A>T (p.Ile426Phe)
c.1228A>T (p.Ile410Phe)
n.359A>T
c.1231A>T (p.Ile411Phe)
Xg.154532716T>CCA415234143G6PDc.1138A>G (p.Ile380Val)
c.1141A>G (p.Ile381Val)
c.1001A>G
c.1004A>G
c.990A>G (n.990A>G)
c.*51A>G (n.*51A>G)
c.*598A>G (n.*598A>G)
c.*98A>G (n.*98A>G)
c.*980A>G (n.*980A>G)
c.1276A>G (p.Ile426Val)
c.1228A>G (p.Ile410Val)
n.359A>G
c.1231A>G (p.Ile411Val)
 ClinVar
Xg.154532716T>GCA415234144G6PDc.1138A>C (p.Ile380Leu)
c.1141A>C (p.Ile381Leu)
c.1001A>C
c.1004A>C
c.990A>C (n.990A>C)
c.*51A>C (n.*51A>C)
c.*598A>C (n.*598A>C)
c.*98A>C (n.*98A>C)
c.*980A>C (n.*980A>C)
c.1276A>C (p.Ile426Leu)
c.1228A>C (p.Ile410Leu)
n.359A>C
c.1231A>C (p.Ile411Leu)
Xg.154532716T=CA2740130041G6PDc.1138A= (p.Ile380=)
c.1141A= (p.Ile381=)
c.1001A=
c.1004A=
c.990A= (n.990A=)
c.*51A= (n.*51A=)
c.*598A= (n.*598A=)
c.*98A= (n.*98A=)
c.*980A= (n.*980A=)
c.1276A= (p.Ile426=)
c.1228A= (p.Ile410=)
n.359A=
c.1231A= (p.Ile411=)
Xg.154532717G>ACA519714500G6PDc.1137C>T (p.Asp379=)
c.1140C>T (p.Asp380=)
c.1000C>T
c.1003C>T
c.989C>T (n.989C>T)
c.*50C>T (n.*50C>T)
c.*597C>T (n.*597C>T)
c.*97C>T (n.*97C>T)
c.*979C>T (n.*979C>T)
c.1275C>T (p.Asp425=)
c.1227C>T (p.Asp409=)
n.358C>T
c.1230C>T (p.Asp410=)
Xg.154532717G>CCA415234146G6PDc.1137C>G (p.Asp379Glu)
c.1140C>G (p.Asp380Glu)
c.1000C>G
c.1003C>G
c.989C>G (n.989C>G)
c.*50C>G (n.*50C>G)
c.*597C>G (n.*597C>G)
c.*97C>G (n.*97C>G)
c.*979C>G (n.*979C>G)
c.1275C>G (p.Asp425Glu)
c.1227C>G (p.Asp409Glu)
n.358C>G
c.1230C>G (p.Asp410Glu)
Xg.154532717G>TCA415234145G6PDc.1137C>A (p.Asp379Glu)
c.1140C>A (p.Asp380Glu)
c.1000C>A
c.1003C>A
c.989C>A (n.989C>A)
c.*50C>A (n.*50C>A)
c.*597C>A (n.*597C>A)
c.*97C>A (n.*97C>A)
c.*979C>A (n.*979C>A)
c.1275C>A (p.Asp425Glu)
c.1227C>A (p.Asp409Glu)
n.358C>A
c.1230C>A (p.Asp410Glu)
Xg.154532718T>ACA415234147G6PDc.1136A>T (p.Asp379Val)
c.1139A>T (p.Asp380Val)
c.999A>T
c.1002A>T
c.988A>T (n.988A>T)
c.*49A>T (n.*49A>T)
c.*596A>T (n.*596A>T)
c.*96A>T (n.*96A>T)
c.*978A>T (n.*978A>T)
c.1274A>T (p.Asp425Val)
c.1226A>T (p.Asp409Val)
n.357A>T
c.1229A>T (p.Asp410Val)
Xg.154532718T>CCA415234148G6PDc.1136A>G (p.Asp379Gly)
c.1139A>G (p.Asp380Gly)
c.999A>G
c.1002A>G
c.988A>G (n.988A>G)
c.*49A>G (n.*49A>G)
c.*596A>G (n.*596A>G)
c.*96A>G (n.*96A>G)
c.*978A>G (n.*978A>G)
c.1274A>G (p.Asp425Gly)
c.1226A>G (p.Asp409Gly)
n.357A>G
c.1229A>G (p.Asp410Gly)
Xg.154532718T>GCA415234149G6PDc.1136A>C (p.Asp379Ala)
c.1139A>C (p.Asp380Ala)
c.999A>C
c.1002A>C
c.988A>C (n.988A>C)
c.*49A>C (n.*49A>C)
c.*596A>C (n.*596A>C)
c.*96A>C (n.*96A>C)
c.*978A>C (n.*978A>C)
c.1274A>C (p.Asp425Ala)
c.1226A>C (p.Asp409Ala)
n.357A>C
c.1229A>C (p.Asp410Ala)
Xg.154532719C>ACA415234150G6PDc.1135G>T (p.Asp379Tyr)
c.1138G>T (p.Asp380Tyr)
c.998G>T
c.1001G>T
c.987G>T (n.987G>T)
c.*48G>T (n.*48G>T)
c.*595G>T (n.*595G>T)
c.*95G>T (n.*95G>T)
c.*977G>T (n.*977G>T)
c.1273G>T (p.Asp425Tyr)
c.1225G>T (p.Asp409Tyr)
n.356G>T
c.1228G>T (p.Asp410Tyr)
Xg.154532719C>GCA415234151G6PDc.1135G>C (p.Asp379His)
c.1138G>C (p.Asp380His)
c.998G>C
c.1001G>C
c.987G>C (n.987G>C)
c.*48G>C (n.*48G>C)
c.*595G>C (n.*595G>C)
c.*95G>C (n.*95G>C)
c.*977G>C (n.*977G>C)
c.1273G>C (p.Asp425His)
c.1225G>C (p.Asp409His)
n.356G>C
c.1228G>C (p.Asp410His)
Xg.154532719C>TCA415234152G6PDc.1135G>A (p.Asp379Asn)
c.1138G>A (p.Asp380Asn)
c.998G>A
c.1001G>A
c.987G>A (n.987G>A)
c.*48G>A (n.*48G>A)
c.*595G>A (n.*595G>A)
c.*95G>A (n.*95G>A)
c.*977G>A (n.*977G>A)
c.1273G>A (p.Asp425Asn)
c.1225G>A (p.Asp409Asn)
n.356G>A
c.1228G>A (p.Asp410Asn)
 gnomAD v4
Xg.154532720G>ACA10566074G6PDc.1134C>T (p.Gly378=)
c.1137C>T (p.Gly379=)
c.997C>T
c.1000C>T
c.986C>T (n.986C>T)
c.*47C>T (n.*47C>T)
c.*594C>T (n.*594C>T)
c.*94C>T (n.*94C>T)
c.*976C>T (n.*976C>T)
c.1272C>T (p.Gly424=)
c.1224C>T (p.Gly408=)
n.355C>T
c.1227C>T (p.Gly409=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532720G>CCA519714502G6PDc.1134C>G (p.Gly378=)
c.1137C>G (p.Gly379=)
c.997C>G
c.1000C>G
c.986C>G (n.986C>G)
c.*47C>G (n.*47C>G)
c.*594C>G (n.*594C>G)
c.*94C>G (n.*94C>G)
c.*976C>G (n.*976C>G)
c.1272C>G (p.Gly424=)
c.1224C>G (p.Gly408=)
n.355C>G
c.1227C>G (p.Gly409=)
Xg.154532720G=CA2466723455G6PDc.1134C= (p.Gly378=)
c.1137C= (p.Gly379=)
c.997C=
c.1000C=
c.986C= (n.986C=)
c.*47C= (n.*47C=)
c.*594C= (n.*594C=)
c.*94C= (n.*94C=)
c.*976C= (n.*976C=)
c.1272C= (p.Gly424=)
c.1224C= (p.Gly408=)
n.355C=
c.1227C= (p.Gly409=)
Xg.154532720G>TCA519714501G6PDc.1134C>A (p.Gly378=)
c.1137C>A (p.Gly379=)
c.997C>A
c.1000C>A
c.986C>A (n.986C>A)
c.*47C>A (n.*47C>A)
c.*594C>A (n.*594C>A)
c.*94C>A (n.*94C>A)
c.*976C>A (n.*976C>A)
c.1272C>A (p.Gly424=)
c.1224C>A (p.Gly408=)
n.355C>A
c.1227C>A (p.Gly409=)
Xg.154532721C>ACA415234153G6PDc.1133G>T (p.Gly378Val)
c.1136G>T (p.Gly379Val)
c.996G>T
c.999G>T
c.985G>T (n.985G>T)
c.*46G>T (n.*46G>T)
c.*593G>T (n.*593G>T)
c.*93G>T (n.*93G>T)
c.*975G>T (n.*975G>T)
c.1271G>T (p.Gly424Val)
c.1223G>T (p.Gly408Val)
n.354G>T
c.1226G>T (p.Gly409Val)
Xg.154532721C>GCA415234155G6PDc.1133G>C (p.Gly378Ala)
c.1136G>C (p.Gly379Ala)
c.996G>C
c.999G>C
c.985G>C (n.985G>C)
c.*46G>C (n.*46G>C)
c.*593G>C (n.*593G>C)
c.*93G>C (n.*93G>C)
c.*975G>C (n.*975G>C)
c.1271G>C (p.Gly424Ala)
c.1223G>C (p.Gly408Ala)
n.354G>C
c.1226G>C (p.Gly409Ala)
Xg.154532721C>TCA415234154G6PDc.1133G>A (p.Gly378Asp)
c.1136G>A (p.Gly379Asp)
c.996G>A
c.999G>A
c.985G>A (n.985G>A)
c.*46G>A (n.*46G>A)
c.*593G>A (n.*593G>A)
c.*93G>A (n.*93G>A)
c.*975G>A (n.*975G>A)
c.1271G>A (p.Gly424Asp)
c.1223G>A (p.Gly408Asp)
n.354G>A
c.1226G>A (p.Gly409Asp)
Xg.154532722C>ACA415234156G6PDc.1132G>T (p.Gly378Cys)
c.1135G>T (p.Gly379Cys)
c.995G>T
c.998G>T
c.984G>T (n.984G>T)
c.*45G>T (n.*45G>T)
c.*592G>T (n.*592G>T)
c.*92G>T (n.*92G>T)
c.*974G>T (n.*974G>T)
c.1270G>T (p.Gly424Cys)
c.1222G>T (p.Gly408Cys)
n.353G>T
c.1225G>T (p.Gly409Cys)
Xg.154532722C=CA2466723456G6PDc.1132G= (p.Gly378=)
c.1135G= (p.Gly379=)
c.995G=
c.998G=
c.984G= (n.984G=)
c.*45G= (n.*45G=)
c.*592G= (n.*592G=)
c.*92G= (n.*92G=)
c.*974G= (n.*974G=)
c.1270G= (p.Gly424=)
c.1222G= (p.Gly408=)
n.353G=
c.1225G= (p.Gly409=)
Xg.154532722C>GCA415234157G6PDc.1132G>C (p.Gly378Arg)
c.1135G>C (p.Gly379Arg)
c.995G>C
c.998G>C
c.984G>C (n.984G>C)
c.*45G>C (n.*45G>C)
c.*592G>C (n.*592G>C)
c.*92G>C (n.*92G>C)
c.*974G>C (n.*974G>C)
c.1270G>C (p.Gly424Arg)
c.1222G>C (p.Gly408Arg)
n.353G>C
c.1225G>C (p.Gly409Arg)
Xg.154532722C>TCA10566075G6PDc.1132G>A (p.Gly378Ser)
c.1135G>A (p.Gly379Ser)
c.995G>A
c.998G>A
c.984G>A (n.984G>A)
c.*45G>A (n.*45G>A)
c.*592G>A (n.*592G>A)
c.*92G>A (n.*92G>A)
c.*974G>A (n.*974G>A)
c.1270G>A (p.Gly424Ser)
c.1222G>A (p.Gly408Ser)
n.353G>A
c.1225G>A (p.Gly409Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532723G>ACA10566076G6PDc.1131C>T (p.Ala377=)
c.1134C>T (p.Ala378=)
c.994C>T
c.997C>T
c.983C>T (n.983C>T)
c.*44C>T (n.*44C>T)
c.*591C>T (n.*591C>T)
c.*91C>T (n.*91C>T)
c.*973C>T (n.*973C>T)
c.1269C>T (p.Ala423=)
c.1221C>T (p.Ala407=)
n.352C>T
c.1224C>T (p.Ala408=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154532723G>CCA519714503G6PDc.1131C>G (p.Ala377=)
c.1134C>G (p.Ala378=)
c.994C>G
c.997C>G
c.983C>G (n.983C>G)
c.*44C>G (n.*44C>G)
c.*591C>G (n.*591C>G)
c.*91C>G (n.*91C>G)
c.*973C>G (n.*973C>G)
c.1269C>G (p.Ala423=)
c.1221C>G (p.Ala407=)
n.352C>G
c.1224C>G (p.Ala408=)
Xg.154532723G=CA2466723457G6PDc.1131C= (p.Ala377=)
c.1134C= (p.Ala378=)
c.994C=
c.997C=
c.983C= (n.983C=)
c.*44C= (n.*44C=)
c.*591C= (n.*591C=)
c.*91C= (n.*91C=)
c.*973C= (n.*973C=)
c.1269C= (p.Ala423=)
c.1221C= (p.Ala407=)
n.352C=
c.1224C= (p.Ala408=)
Xg.154532723G>TCA519714504G6PDc.1131C>A (p.Ala377=)
c.1134C>A (p.Ala378=)
c.994C>A
c.997C>A
c.983C>A (n.983C>A)
c.*44C>A (n.*44C>A)
c.*591C>A (n.*591C>A)
c.*91C>A (n.*91C>A)
c.*973C>A (n.*973C>A)
c.1269C>A (p.Ala423=)
c.1221C>A (p.Ala407=)
n.352C>A
c.1224C>A (p.Ala408=)
Xg.154532724G>ACA415234158G6PDc.1130C>T (p.Ala377Val)
c.1133C>T (p.Ala378Val)
c.993C>T
c.996C>T
c.982C>T (n.982C>T)
c.*43C>T (n.*43C>T)
c.*590C>T (n.*590C>T)
c.*90C>T (n.*90C>T)
c.*972C>T (n.*972C>T)
c.1268C>T (p.Ala423Val)
c.1220C>T (p.Ala407Val)
n.351C>T
c.1223C>T (p.Ala408Val)
Xg.154532724G>CCA415234160G6PDc.1130C>G (p.Ala377Gly)
c.1133C>G (p.Ala378Gly)
c.993C>G
c.996C>G
c.982C>G (n.982C>G)
c.*43C>G (n.*43C>G)
c.*590C>G (n.*590C>G)
c.*90C>G (n.*90C>G)
c.*972C>G (n.*972C>G)
c.1268C>G (p.Ala423Gly)
c.1220C>G (p.Ala407Gly)
n.351C>G
c.1223C>G (p.Ala408Gly)
Xg.154532724G>TCA415234159G6PDc.1130C>A (p.Ala377Asp)
c.1133C>A (p.Ala378Asp)
c.993C>A
c.996C>A
c.982C>A (n.982C>A)
c.*43C>A (n.*43C>A)
c.*590C>A (n.*590C>A)
c.*90C>A (n.*90C>A)
c.*972C>A (n.*972C>A)
c.1268C>A (p.Ala423Asp)
c.1220C>A (p.Ala407Asp)
n.351C>A
c.1223C>A (p.Ala408Asp)
Xg.154532725C>ACA415234161G6PDc.1129G>T (p.Ala377Ser)
c.1132G>T (p.Ala378Ser)
c.992G>T
c.995G>T
c.981G>T (n.981G>T)
c.*42G>T (n.*42G>T)
c.*589G>T (n.*589G>T)
c.*89G>T (n.*89G>T)
c.*971G>T (n.*971G>T)
c.1267G>T (p.Ala423Ser)
c.1219G>T (p.Ala407Ser)
n.350G>T
c.1222G>T (p.Ala408Ser)
Xg.154532725C=CA2466723458G6PDc.1129G= (p.Ala377=)
c.1132G= (p.Ala378=)
c.992G=
c.995G=
c.981G= (n.981G=)
c.*42G= (n.*42G=)
c.*589G= (n.*589G=)
c.*89G= (n.*89G=)
c.*971G= (n.*971G=)
c.1267G= (p.Ala423=)
c.1219G= (p.Ala407=)
n.350G=
c.1222G= (p.Ala408=)
Xg.154532725C>GCA415234162G6PDc.1129G>C (p.Ala377Pro)
c.1132G>C (p.Ala378Pro)
c.992G>C
c.995G>C
c.981G>C (n.981G>C)
c.*42G>C (n.*42G>C)
c.*589G>C (n.*589G>C)
c.*89G>C (n.*89G>C)
c.*971G>C (n.*971G>C)
c.1267G>C (p.Ala423Pro)
c.1219G>C (p.Ala407Pro)
n.350G>C
c.1222G>C (p.Ala408Pro)
Xg.154532725C>TCA415234163G6PDc.1129G>A (p.Ala377Thr)
c.1132G>A (p.Ala378Thr)
c.992G>A
c.995G>A
c.981G>A (n.981G>A)
c.*42G>A (n.*42G>A)
c.*589G>A (n.*589G>A)
c.*89G>A (n.*89G>A)
c.*971G>A (n.*971G>A)
c.1267G>A (p.Ala423Thr)
c.1219G>A (p.Ala407Thr)
n.350G>A
c.1222G>A (p.Ala408Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.154532726C>ACA519714505G6PDc.1128G>T (p.Val376=)
c.1131G>T (p.Val377=)
c.991G>T
c.994G>T
c.980G>T (n.980G>T)
c.*41G>T (n.*41G>T)
c.*588G>T (n.*588G>T)
c.*88G>T (n.*88G>T)
c.*970G>T (n.*970G>T)
c.1266G>T (p.Val422=)
c.1218G>T (p.Val406=)
n.349G>T
c.1221G>T (p.Val407=)
Xg.154532726C=CA2466723459G6PDc.1128G= (p.Val376=)
c.1131G= (p.Val377=)
c.991G=
c.994G=
c.980G= (n.980G=)
c.*41G= (n.*41G=)
c.*588G= (n.*588G=)
c.*88G= (n.*88G=)
c.*970G= (n.*970G=)
c.1266G= (p.Val422=)
c.1218G= (p.Val406=)
n.349G=
c.1221G= (p.Val407=)
Xg.154532726C>GCA519714507G6PDc.1128G>C (p.Val376=)
c.1131G>C (p.Val377=)
c.991G>C
c.994G>C
c.980G>C (n.980G>C)
c.*41G>C (n.*41G>C)
c.*588G>C (n.*588G>C)
c.*88G>C (n.*88G>C)
c.*970G>C (n.*970G>C)
c.1266G>C (p.Val422=)
c.1218G>C (p.Val406=)
n.349G>C
c.1221G>C (p.Val407=)
Xg.154532726C>TCA519714506G6PDc.1128G>A (p.Val376=)
c.1131G>A (p.Val377=)
c.991G>A
c.994G>A
c.980G>A (n.980G>A)
c.*41G>A (n.*41G>A)
c.*588G>A (n.*588G>A)
c.*88G>A (n.*88G>A)
c.*970G>A (n.*970G>A)
c.1266G>A (p.Val422=)
c.1218G>A (p.Val406=)
n.349G>A
c.1221G>A (p.Val407=)
 dbSNP gnomAD v4
Xg.154532727A>CCA415234164G6PDc.1127T>G (p.Val376Gly)
c.1130T>G (p.Val377Gly)
c.990T>G
c.993T>G
c.979T>G (n.979T>G)
c.*40T>G (n.*40T>G)
c.*587T>G (n.*587T>G)
c.*87T>G (n.*87T>G)
c.*969T>G (n.*969T>G)
c.1265T>G (p.Val422Gly)
c.1217T>G (p.Val406Gly)
n.348T>G
c.1220T>G (p.Val407Gly)
Xg.154532727A>GCA415234165G6PDc.1127T>C (p.Val376Ala)
c.1130T>C (p.Val377Ala)
c.990T>C
c.993T>C
c.979T>C (n.979T>C)
c.*40T>C (n.*40T>C)
c.*587T>C (n.*587T>C)
c.*87T>C (n.*87T>C)
c.*969T>C (n.*969T>C)
c.1265T>C (p.Val422Ala)
c.1217T>C (p.Val406Ala)
n.348T>C
c.1220T>C (p.Val407Ala)
Xg.154532727A>TCA415234166G6PDc.1127T>A (p.Val376Glu)
c.1130T>A (p.Val377Glu)
c.990T>A
c.993T>A
c.979T>A (n.979T>A)
c.*40T>A (n.*40T>A)
c.*587T>A (n.*587T>A)
c.*87T>A (n.*87T>A)
c.*969T>A (n.*969T>A)
c.1265T>A (p.Val422Glu)
c.1217T>A (p.Val406Glu)
n.348T>A
c.1220T>A (p.Val407Glu)
Xg.154532728C>ACA415234167G6PDc.1126G>T (p.Val376Leu)
c.1129G>T (p.Val377Leu)
c.989G>T
c.992G>T
c.978G>T (n.978G>T)
c.*39G>T (n.*39G>T)
c.*586G>T (n.*586G>T)
c.*86G>T (n.*86G>T)
c.*968G>T (n.*968G>T)
c.1264G>T (p.Val422Leu)
c.1216G>T (p.Val406Leu)
n.347G>T
c.1219G>T (p.Val407Leu)
Xg.154532728C>GCA415234168G6PDc.1126G>C (p.Val376Leu)
c.1129G>C (p.Val377Leu)
c.989G>C
c.992G>C
c.978G>C (n.978G>C)
c.*39G>C (n.*39G>C)
c.*586G>C (n.*586G>C)
c.*86G>C (n.*86G>C)
c.*968G>C (n.*968G>C)
c.1264G>C (p.Val422Leu)
c.1216G>C (p.Val406Leu)
n.347G>C
c.1219G>C (p.Val407Leu)
Xg.154532728C>TCA415234169G6PDc.1126G>A (p.Val376Met)
c.1129G>A (p.Val377Met)
c.989G>A
c.992G>A
c.978G>A (n.978G>A)
c.*39G>A (n.*39G>A)
c.*586G>A (n.*586G>A)
c.*86G>A (n.*86G>A)
c.*968G>A (n.*968G>A)
c.1264G>A (p.Val422Met)
c.1216G>A (p.Val406Met)
n.347G>A
c.1219G>A (p.Val407Met)
Xg.154532729A>CCA415234170G6PDc.1125T>G (p.Asp375Glu)
c.1128T>G (p.Asp376Glu)
c.988T>G
c.991T>G
c.977T>G (n.977T>G)
c.*38T>G (n.*38T>G)
c.*585T>G (n.*585T>G)
c.*85T>G (n.*85T>G)
c.*967T>G (n.*967T>G)
c.1263T>G (p.Asp421Glu)
c.1215T>G (p.Asp405Glu)
n.346T>G
c.1218T>G (p.Asp406Glu)
Xg.154532729A>GCA519714508G6PDc.1125T>C (p.Asp375=)
c.1128T>C (p.Asp376=)
c.988T>C
c.991T>C
c.977T>C (n.977T>C)
c.*38T>C (n.*38T>C)
c.*585T>C (n.*585T>C)
c.*85T>C (n.*85T>C)
c.*967T>C (n.*967T>C)
c.1263T>C (p.Asp421=)
c.1215T>C (p.Asp405=)
n.346T>C
c.1218T>C (p.Asp406=)
Xg.154532729A>TCA415234171G6PDc.1125T>A (p.Asp375Glu)
c.1128T>A (p.Asp376Glu)
c.988T>A
c.991T>A
c.977T>A (n.977T>A)
c.*38T>A (n.*38T>A)
c.*585T>A (n.*585T>A)
c.*85T>A (n.*85T>A)
c.*967T>A (n.*967T>A)
c.1263T>A (p.Asp421Glu)
c.1215T>A (p.Asp405Glu)
n.346T>A
c.1218T>A (p.Asp406Glu)
Xg.154532729_154532730insAAAAACCAAACACACCCAACCA2824300344G6PDc.1124_1125insGTTGGGTGTGTTTGGTTTTT (p.Asp375GlufsTer24)
c.1127_1128insGTTGGGTGTGTTTGGTTTTT (p.Asp376GlufsTer24)
c.987_988insGTTGGGTGTGTTTGGTTTTT
c.990_991insGTTGGGTGTGTTTGGTTTTT
c.976_977insGTTGGGTGTGTTTGGTTTTT (n.976_977insGTTGGGTGTGTTTGGTTTTT)
c.*37_*38insGTTGGGTGTGTTTGGTTTTT (n.*37_*38insGTTGGGTGTGTTTGGTTTTT)
c.*584_*585insGTTGGGTGTGTTTGGTTTTT (n.*584_*585insGTTGGGTGTGTTTGGTTTTT)
c.*84_*85insGTTGGGTGTGTTTGGTTTTT (n.*84_*85insGTTGGGTGTGTTTGGTTTTT)
c.*966_*967insGTTGGGTGTGTTTGGTTTTT (n.*966_*967insGTTGGGTGTGTTTGGTTTTT)
c.1262_1263insGTTGGGTGTGTTTGGTTTTT (p.Asp421GlufsTer24)
c.1214_1215insGTTGGGTGTGTTTGGTTTTT (p.Asp405GlufsTer24)
n.345_346insGTTGGGTGTGTTTGGTTTTT
c.1217_1218insGTTGGGTGTGTTTGGTTTTT (p.Asp406GlufsTer24)
Xg.154532730T>ACA415234173G6PDc.1124A>T (p.Asp375Val)
c.1127A>T (p.Asp376Val)
c.987A>T
c.990A>T
c.976A>T (n.976A>T)
c.*37A>T (n.*37A>T)
c.*584A>T (n.*584A>T)
c.*84A>T (n.*84A>T)
c.*966A>T (n.*966A>T)
c.1262A>T (p.Asp421Val)
c.1214A>T (p.Asp405Val)
n.345A>T
c.1217A>T (p.Asp406Val)
Xg.154532730T>CCA415234174G6PDc.1124A>G (p.Asp375Gly)
c.1127A>G (p.Asp376Gly)
c.987A>G
c.990A>G
c.976A>G (n.976A>G)
c.*37A>G (n.*37A>G)
c.*584A>G (n.*584A>G)
c.*84A>G (n.*84A>G)
c.*966A>G (n.*966A>G)
c.1262A>G (p.Asp421Gly)
c.1214A>G (p.Asp405Gly)
n.345A>G
c.1217A>G (p.Asp406Gly)
 dbSNP gnomAD v4
Xg.154532730T>GCA415234172G6PDc.1124A>C (p.Asp375Ala)
c.1127A>C (p.Asp376Ala)
c.987A>C
c.990A>C
c.976A>C (n.976A>C)
c.*37A>C (n.*37A>C)
c.*584A>C (n.*584A>C)
c.*84A>C (n.*84A>C)
c.*966A>C (n.*966A>C)
c.1262A>C (p.Asp421Ala)
c.1214A>C (p.Asp405Ala)
n.345A>C
c.1217A>C (p.Asp406Ala)
Xg.154532730T=CA2466723460G6PDc.1124A= (p.Asp375=)
c.1127A= (p.Asp376=)
c.987A=
c.990A=
c.976A= (n.976A=)
c.*37A= (n.*37A=)
c.*584A= (n.*584A=)
c.*84A= (n.*84A=)
c.*966A= (n.*966A=)
c.1262A= (p.Asp421=)
c.1214A= (p.Asp405=)
n.345A=
c.1217A= (p.Asp406=)
Xg.154532731C>ACA415234175G6PDc.1123G>T (p.Asp375Tyr)
c.1126G>T (p.Asp376Tyr)
c.986G>T
c.989G>T
c.975G>T (n.975G>T)
c.*36G>T (n.*36G>T)
c.*583G>T (n.*583G>T)
c.*83G>T (n.*83G>T)
c.*965G>T (n.*965G>T)
c.1261G>T (p.Asp421Tyr)
c.1213G>T (p.Asp405Tyr)
n.344G>T
c.1216G>T (p.Asp406Tyr)
Xg.154532731C>GCA415234176G6PDc.1123G>C (p.Asp375His)
c.1126G>C (p.Asp376His)
c.986G>C
c.989G>C
c.975G>C (n.975G>C)
c.*36G>C (n.*36G>C)
c.*583G>C (n.*583G>C)
c.*83G>C (n.*83G>C)
c.*965G>C (n.*965G>C)
c.1261G>C (p.Asp421His)
c.1213G>C (p.Asp405His)
n.344G>C
c.1216G>C (p.Asp406His)
Xg.154532731C>TCA415234177G6PDc.1123G>A (p.Asp375Asn)
c.1126G>A (p.Asp376Asn)
c.986G>A
c.989G>A
c.975G>A (n.975G>A)
c.*36G>A (n.*36G>A)
c.*583G>A (n.*583G>A)
c.*83G>A (n.*83G>A)
c.*965G>A (n.*965G>A)
c.1261G>A (p.Asp421Asn)
c.1213G>A (p.Asp405Asn)
n.344G>A
c.1216G>A (p.Asp406Asn)
Xg.154532732A=CA2466723461G6PDc.1122T= (p.His374=)
c.1125T= (p.His375=)
c.985T=
c.988T=
c.974T= (n.974T=)
c.*35T= (n.*35T=)
c.*582T= (n.*582T=)
c.*82T= (n.*82T=)
c.*964T= (n.*964T=)
c.1260T= (p.His420=)
c.1212T= (p.His404=)
n.343T=
c.1215T= (p.His405=)
Xg.154532732A>CCA415234178G6PDc.1122T>G (p.His374Gln)
c.1125T>G (p.His375Gln)
c.985T>G
c.988T>G
c.974T>G (n.974T>G)
c.*35T>G (n.*35T>G)
c.*582T>G (n.*582T>G)
c.*82T>G (n.*82T>G)
c.*964T>G (n.*964T>G)
c.1260T>G (p.His420Gln)
c.1212T>G (p.His404Gln)
n.343T>G
c.1215T>G (p.His405Gln)
Xg.154532732A>GCA519714509G6PDc.1122T>C (p.His374=)
c.1125T>C (p.His375=)
c.985T>C
c.988T>C
c.974T>C (n.974T>C)
c.*35T>C (n.*35T>C)
c.*582T>C (n.*582T>C)
c.*82T>C (n.*82T>C)
c.*964T>C (n.*964T>C)
c.1260T>C (p.His420=)
c.1212T>C (p.His404=)
n.343T>C
c.1215T>C (p.His405=)
 dbSNP gnomAD v4
Xg.154532732A>TCA415234179G6PDc.1122T>A (p.His374Gln)
c.1125T>A (p.His375Gln)
c.985T>A
c.988T>A
c.974T>A (n.974T>A)
c.*35T>A (n.*35T>A)
c.*582T>A (n.*582T>A)
c.*82T>A (n.*82T>A)
c.*964T>A (n.*964T>A)
c.1260T>A (p.His420Gln)
c.1212T>A (p.His404Gln)
n.343T>A
c.1215T>A (p.His405Gln)
Xg.154532733T>ACA415234182G6PDc.1121A>T (p.His374Leu)
c.1124A>T (p.His375Leu)
c.984A>T
c.987A>T
c.973A>T (n.973A>T)
c.*34A>T (n.*34A>T)
c.*581A>T (n.*581A>T)
c.*81A>T (n.*81A>T)
c.*963A>T (n.*963A>T)
c.1259A>T (p.His420Leu)
c.1211A>T (p.His404Leu)
n.342A>T
c.1214A>T (p.His405Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532733T>CCA415234181G6PDc.1121A>G (p.His374Arg)
c.1124A>G (p.His375Arg)
c.984A>G
c.987A>G
c.973A>G (n.973A>G)
c.*34A>G (n.*34A>G)
c.*581A>G (n.*581A>G)
c.*81A>G (n.*81A>G)
c.*963A>G (n.*963A>G)
c.1259A>G (p.His420Arg)
c.1211A>G (p.His404Arg)
n.342A>G
c.1214A>G (p.His405Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532733T>GCA415234180G6PDc.1121A>C (p.His374Pro)
c.1124A>C (p.His375Pro)
c.984A>C
c.987A>C
c.973A>C (n.973A>C)
c.*34A>C (n.*34A>C)
c.*581A>C (n.*581A>C)
c.*81A>C (n.*81A>C)
c.*963A>C (n.*963A>C)
c.1259A>C (p.His420Pro)
c.1211A>C (p.His404Pro)
n.342A>C
c.1214A>C (p.His405Pro)
 dbSNP
Xg.154532733T=CA2466723462G6PDc.1121A= (p.His374=)
c.1124A= (p.His375=)
c.984A=
c.987A=
c.973A= (n.973A=)
c.*34A= (n.*34A=)
c.*581A= (n.*581A=)
c.*81A= (n.*81A=)
c.*963A= (n.*963A=)
c.1259A= (p.His420=)
c.1211A= (p.His404=)
n.342A=
c.1214A= (p.His405=)
Xg.154532734G>ACA415234183G6PDc.1120C>T (p.His374Tyr)
c.1123C>T (p.His375Tyr)
c.983C>T
c.986C>T
c.972C>T (n.972C>T)
c.*33C>T (n.*33C>T)
c.*580C>T (n.*580C>T)
c.*80C>T (n.*80C>T)
c.*962C>T (n.*962C>T)
c.1258C>T (p.His420Tyr)
c.1210C>T (p.His404Tyr)
n.341C>T
c.1213C>T (p.His405Tyr)
Xg.154532734G>CCA415234184G6PDc.1120C>G (p.His374Asp)
c.1123C>G (p.His375Asp)
c.983C>G
c.986C>G
c.972C>G (n.972C>G)
c.*33C>G (n.*33C>G)
c.*580C>G (n.*580C>G)
c.*80C>G (n.*80C>G)
c.*962C>G (n.*962C>G)
c.1258C>G (p.His420Asp)
c.1210C>G (p.His404Asp)
n.341C>G
c.1213C>G (p.His405Asp)
 gnomAD v4
Xg.154532734G>TCA415234185G6PDc.1120C>A (p.His374Asn)
c.1123C>A (p.His375Asn)
c.983C>A
c.986C>A
c.972C>A (n.972C>A)
c.*33C>A (n.*33C>A)
c.*580C>A (n.*580C>A)
c.*80C>A (n.*80C>A)
c.*962C>A (n.*962C>A)
c.1258C>A (p.His420Asn)
c.1210C>A (p.His404Asn)
n.341C>A
c.1213C>A (p.His405Asn)
Xg.154532735G>ACA10566077G6PDc.1119C>T (p.Phe373=)
c.1122C>T (p.Phe374=)
c.982C>T
c.985C>T
c.971C>T (n.971C>T)
c.*32C>T (n.*32C>T)
c.*579C>T (n.*579C>T)
c.*79C>T (n.*79C>T)
c.*961C>T (n.*961C>T)
c.1257C>T (p.Phe419=)
c.1209C>T (p.Phe403=)
n.340C>T
c.1212C>T (p.Phe404=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154532735G>CCA415234186G6PDc.1119C>G (p.Phe373Leu)
c.1122C>G (p.Phe374Leu)
c.982C>G
c.985C>G
c.971C>G (n.971C>G)
c.*32C>G (n.*32C>G)
c.*579C>G (n.*579C>G)
c.*79C>G (n.*79C>G)
c.*961C>G (n.*961C>G)
c.1257C>G (p.Phe419Leu)
c.1209C>G (p.Phe403Leu)
n.340C>G
c.1212C>G (p.Phe404Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.154532735G=CA2466723463G6PDc.1119C= (p.Phe373=)
c.1122C= (p.Phe374=)
c.982C=
c.985C=
c.971C= (n.971C=)
c.*32C= (n.*32C=)
c.*579C= (n.*579C=)
c.*79C= (n.*79C=)
c.*961C= (n.*961C=)
c.1257C= (p.Phe419=)
c.1209C= (p.Phe403=)
n.340C=
c.1212C= (p.Phe404=)
Xg.154532735G>TCA415234187G6PDc.1119C>A (p.Phe373Leu)
c.1122C>A (p.Phe374Leu)
c.982C>A
c.985C>A
c.971C>A (n.971C>A)
c.*32C>A (n.*32C>A)
c.*579C>A (n.*579C>A)
c.*79C>A (n.*79C>A)
c.*961C>A (n.*961C>A)
c.1257C>A (p.Phe419Leu)
c.1209C>A (p.Phe403Leu)
n.340C>A
c.1212C>A (p.Phe404Leu)
Xg.154532736A>CCA415234188G6PDc.1118T>G (p.Phe373Cys)
c.1121T>G (p.Phe374Cys)
c.981T>G
c.984T>G
c.970T>G (n.970T>G)
c.*31T>G (n.*31T>G)
c.*578T>G (n.*578T>G)
c.*78T>G (n.*78T>G)
c.*960T>G (n.*960T>G)
c.1256T>G (p.Phe419Cys)
c.1208T>G (p.Phe403Cys)
n.339T>G
c.1211T>G (p.Phe404Cys)
Xg.154532736A>GCA415234190G6PDc.1118T>C (p.Phe373Ser)
c.1121T>C (p.Phe374Ser)
c.981T>C
c.984T>C
c.970T>C (n.970T>C)
c.*31T>C (n.*31T>C)
c.*578T>C (n.*578T>C)
c.*78T>C (n.*78T>C)
c.*960T>C (n.*960T>C)
c.1256T>C (p.Phe419Ser)
c.1208T>C (p.Phe403Ser)
n.339T>C
c.1211T>C (p.Phe404Ser)
 ClinVar
Xg.154532736A>TCA415234189G6PDc.1118T>A (p.Phe373Tyr)
c.1121T>A (p.Phe374Tyr)
c.981T>A
c.984T>A
c.970T>A (n.970T>A)
c.*31T>A (n.*31T>A)
c.*578T>A (n.*578T>A)
c.*78T>A (n.*78T>A)
c.*960T>A (n.*960T>A)
c.1256T>A (p.Phe419Tyr)
c.1208T>A (p.Phe403Tyr)
n.339T>A
c.1211T>A (p.Phe404Tyr)
Xg.154532737A>CCA415234191G6PDc.1117T>G (p.Phe373Val)
c.1120T>G (p.Phe374Val)
c.980T>G
c.983T>G
c.969T>G (n.969T>G)
c.*30T>G (n.*30T>G)
c.*577T>G (n.*577T>G)
c.*77T>G (n.*77T>G)
c.*959T>G (n.*959T>G)
c.1255T>G (p.Phe419Val)
c.1207T>G (p.Phe403Val)
n.338T>G
c.1210T>G (p.Phe404Val)
Xg.154532737A>GCA415234192G6PDc.1117T>C (p.Phe373Leu)
c.1120T>C (p.Phe374Leu)
c.980T>C
c.983T>C
c.969T>C (n.969T>C)
c.*30T>C (n.*30T>C)
c.*577T>C (n.*577T>C)
c.*77T>C (n.*77T>C)
c.*959T>C (n.*959T>C)
c.1255T>C (p.Phe419Leu)
c.1207T>C (p.Phe403Leu)
n.338T>C
c.1210T>C (p.Phe404Leu)
Xg.154532737A>TCA415234193G6PDc.1117T>A (p.Phe373Ile)
c.1120T>A (p.Phe374Ile)
c.980T>A
c.983T>A
c.969T>A (n.969T>A)
c.*30T>A (n.*30T>A)
c.*577T>A (n.*577T>A)
c.*77T>A (n.*77T>A)
c.*959T>A (n.*959T>A)
c.1255T>A (p.Phe419Ile)
c.1207T>A (p.Phe403Ile)
n.338T>A
c.1210T>A (p.Phe404Ile)
Xg.154532738C>ACA415234194G6PDc.1116G>T (p.Gln372His)
c.1119G>T (p.Gln373His)
c.979G>T
c.982G>T
c.968G>T (n.968G>T)
c.*29G>T (n.*29G>T)
c.*576G>T (n.*576G>T)
c.*76G>T (n.*76G>T)
c.*958G>T (n.*958G>T)
c.1254G>T (p.Gln418His)
c.1206G>T (p.Gln402His)
n.337G>T
c.1209G>T (p.Gln403His)
Xg.154532738C=CA2466723464G6PDc.1116G= (p.Gln372=)
c.1119G= (p.Gln373=)
c.979G=
c.982G=
c.968G= (n.968G=)
c.*29G= (n.*29G=)
c.*576G= (n.*576G=)
c.*76G= (n.*76G=)
c.*958G= (n.*958G=)
c.1254G= (p.Gln418=)
c.1206G= (p.Gln402=)
n.337G=
c.1209G= (p.Gln403=)
Xg.154532738C>GCA415234195G6PDc.1116G>C (p.Gln372His)
c.1119G>C (p.Gln373His)
c.979G>C
c.982G>C
c.968G>C (n.968G>C)
c.*29G>C (n.*29G>C)
c.*576G>C (n.*576G>C)
c.*76G>C (n.*76G>C)
c.*958G>C (n.*958G>C)
c.1254G>C (p.Gln418His)
c.1206G>C (p.Gln402His)
n.337G>C
c.1209G>C (p.Gln403His)
Xg.154532738C>TCA120947G6PDc.1116G>A (p.Gln372=)
c.1119G>A (p.Gln373=)
c.979G>A
c.982G>A
c.968G>A (n.968G>A)
c.*29G>A (n.*29G>A)
c.*576G>A (n.*576G>A)
c.*76G>A (n.*76G>A)
c.*958G>A (n.*958G>A)
c.1254G>A (p.Gln418=)
c.1206G>A (p.Gln402=)
n.337G>A
c.1209G>A (p.Gln403=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532739T>ACA415234196G6PDc.1115A>T (p.Gln372Leu)
c.1118A>T (p.Gln373Leu)
c.978A>T
c.981A>T
c.967A>T (n.967A>T)
c.*28A>T (n.*28A>T)
c.*575A>T (n.*575A>T)
c.*75A>T (n.*75A>T)
c.*957A>T (n.*957A>T)
c.1253A>T (p.Gln418Leu)
c.1205A>T (p.Gln402Leu)
n.336A>T
c.1208A>T (p.Gln403Leu)
Xg.154532739T>CCA415234197G6PDc.1115A>G (p.Gln372Arg)
c.1118A>G (p.Gln373Arg)
c.978A>G
c.981A>G
c.967A>G (n.967A>G)
c.*28A>G (n.*28A>G)
c.*575A>G (n.*575A>G)
c.*75A>G (n.*75A>G)
c.*957A>G (n.*957A>G)
c.1253A>G (p.Gln418Arg)
c.1205A>G (p.Gln402Arg)
n.336A>G
c.1208A>G (p.Gln403Arg)
Xg.154532739T>GCA415234198G6PDc.1115A>C (p.Gln372Pro)
c.1118A>C (p.Gln373Pro)
c.978A>C
c.981A>C
c.967A>C (n.967A>C)
c.*28A>C (n.*28A>C)
c.*575A>C (n.*575A>C)
c.*75A>C (n.*75A>C)
c.*957A>C (n.*957A>C)
c.1253A>C (p.Gln418Pro)
c.1205A>C (p.Gln402Pro)
n.336A>C
c.1208A>C (p.Gln403Pro)
Xg.154532740G>ACA415234199G6PDc.1114C>T (p.Gln372Ter)
c.1117C>T (p.Gln373Ter)
c.977C>T
c.980C>T
c.966C>T (n.966C>T)
c.*27C>T (n.*27C>T)
c.*574C>T (n.*574C>T)
c.*74C>T (n.*74C>T)
c.*956C>T (n.*956C>T)
c.1252C>T (p.Gln418Ter)
c.1204C>T (p.Gln402Ter)
n.335C>T
c.1207C>T (p.Gln403Ter)
Xg.154532740G>CCA415234200G6PDc.1114C>G (p.Gln372Glu)
c.1117C>G (p.Gln373Glu)
c.977C>G
c.980C>G
c.966C>G (n.966C>G)
c.*27C>G (n.*27C>G)
c.*574C>G (n.*574C>G)
c.*74C>G (n.*74C>G)
c.*956C>G (n.*956C>G)
c.1252C>G (p.Gln418Glu)
c.1204C>G (p.Gln402Glu)
n.335C>G
c.1207C>G (p.Gln403Glu)
Xg.154532740G>TCA415234201G6PDc.1114C>A (p.Gln372Lys)
c.1117C>A (p.Gln373Lys)
c.977C>A
c.980C>A
c.966C>A (n.966C>A)
c.*27C>A (n.*27C>A)
c.*574C>A (n.*574C>A)
c.*74C>A (n.*74C>A)
c.*956C>A (n.*956C>A)
c.1252C>A (p.Gln418Lys)
c.1204C>A (p.Gln402Lys)
n.335C>A
c.1207C>A (p.Gln403Lys)
Xg.154532741C>ACA519714512G6PDc.1113G>T (p.Leu371=)
c.1116G>T (p.Leu372=)
c.976G>T
c.979G>T
c.965G>T (n.965G>T)
c.*26G>T (n.*26G>T)
c.*573G>T (n.*573G>T)
c.*73G>T (n.*73G>T)
c.*955G>T (n.*955G>T)
c.1251G>T (p.Leu417=)
c.1203G>T (p.Leu401=)
n.334G>T
c.1206G>T (p.Leu402=)
Xg.154532741C=CA2466723465G6PDc.1113G= (p.Leu371=)
c.1116G= (p.Leu372=)
c.976G=
c.979G=
c.965G= (n.965G=)
c.*26G= (n.*26G=)
c.*573G= (n.*573G=)
c.*73G= (n.*73G=)
c.*955G= (n.*955G=)
c.1251G= (p.Leu417=)
c.1203G= (p.Leu401=)
n.334G=
c.1206G= (p.Leu402=)
Xg.154532741C>GCA519714510G6PDc.1113G>C (p.Leu371=)
c.1116G>C (p.Leu372=)
c.976G>C
c.979G>C
c.965G>C (n.965G>C)
c.*26G>C (n.*26G>C)
c.*573G>C (n.*573G>C)
c.*73G>C (n.*73G>C)
c.*955G>C (n.*955G>C)
c.1251G>C (p.Leu417=)
c.1203G>C (p.Leu401=)
n.334G>C
c.1206G>C (p.Leu402=)
Xg.154532741C>TCA519714511G6PDc.1113G>A (p.Leu371=)
c.1116G>A (p.Leu372=)
c.976G>A
c.979G>A
c.965G>A (n.965G>A)
c.*26G>A (n.*26G>A)
c.*573G>A (n.*573G>A)
c.*73G>A (n.*73G>A)
c.*955G>A (n.*955G>A)
c.1251G>A (p.Leu417=)
c.1203G>A (p.Leu401=)
n.334G>A
c.1206G>A (p.Leu402=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532742A>CCA415234202G6PDc.1112T>G (p.Leu371Arg)
c.1115T>G (p.Leu372Arg)
c.975T>G
c.978T>G
c.964T>G (n.964T>G)
c.*25T>G (n.*25T>G)
c.*572T>G (n.*572T>G)
c.*72T>G (n.*72T>G)
c.*954T>G (n.*954T>G)
c.1250T>G (p.Leu417Arg)
c.1202T>G (p.Leu401Arg)
n.333T>G
c.1205T>G (p.Leu402Arg)
Xg.154532742A>GCA415234204G6PDc.1112T>C (p.Leu371Pro)
c.1115T>C (p.Leu372Pro)
c.975T>C
c.978T>C
c.964T>C (n.964T>C)
c.*25T>C (n.*25T>C)
c.*572T>C (n.*572T>C)
c.*72T>C (n.*72T>C)
c.*954T>C (n.*954T>C)
c.1250T>C (p.Leu417Pro)
c.1202T>C (p.Leu401Pro)
n.333T>C
c.1205T>C (p.Leu402Pro)
Xg.154532742A>TCA415234203G6PDc.1112T>A (p.Leu371Gln)
c.1115T>A (p.Leu372Gln)
c.975T>A
c.978T>A
c.964T>A (n.964T>A)
c.*25T>A (n.*25T>A)
c.*572T>A (n.*572T>A)
c.*72T>A (n.*72T>A)
c.*954T>A (n.*954T>A)
c.1250T>A (p.Leu417Gln)
c.1202T>A (p.Leu401Gln)
n.333T>A
c.1205T>A (p.Leu402Gln)
Xg.154532743G>ACA519714514G6PDc.1111C>T (p.Leu371=)
c.1114C>T (p.Leu372=)
c.974C>T
c.977C>T
c.963C>T (n.963C>T)
c.*24C>T (n.*24C>T)
c.*571C>T (n.*571C>T)
c.*71C>T (n.*71C>T)
c.*953C>T (n.*953C>T)
c.1249C>T (p.Leu417=)
c.1201C>T (p.Leu401=)
n.332C>T
c.1204C>T (p.Leu402=)
Xg.154532743G>CCA415234205G6PDc.1111C>G (p.Leu371Val)
c.1114C>G (p.Leu372Val)
c.974C>G
c.977C>G
c.963C>G (n.963C>G)
c.*24C>G (n.*24C>G)
c.*571C>G (n.*571C>G)
c.*71C>G (n.*71C>G)
c.*953C>G (n.*953C>G)
c.1249C>G (p.Leu417Val)
c.1201C>G (p.Leu401Val)
n.332C>G
c.1204C>G (p.Leu402Val)
Xg.154532743G>TCA415234206G6PDc.1111C>A (p.Leu371Met)
c.1114C>A (p.Leu372Met)
c.974C>A
c.977C>A
c.963C>A (n.963C>A)
c.*24C>A (n.*24C>A)
c.*571C>A (n.*571C>A)
c.*71C>A (n.*71C>A)
c.*953C>A (n.*953C>A)
c.1249C>A (p.Leu417Met)
c.1201C>A (p.Leu401Met)
n.332C>A
c.1204C>A (p.Leu402Met)
Xg.154532744C>ACA415234207G6PDc.1110G>T (p.Arg370Ser)
c.1113G>T (p.Arg371Ser)
c.973G>T
c.976G>T
c.962G>T (n.962G>T)
c.*23G>T (n.*23G>T)
c.*570G>T (n.*570G>T)
c.*70G>T (n.*70G>T)
c.*952G>T (n.*952G>T)
c.1248G>T (p.Arg416Ser)
c.1200G>T (p.Arg400Ser)
n.331G>T
c.1203G>T (p.Arg401Ser)
Xg.154532744C>GCA415234208G6PDc.1110G>C (p.Arg370Ser)
c.1113G>C (p.Arg371Ser)
c.973G>C
c.976G>C
c.962G>C (n.962G>C)
c.*23G>C (n.*23G>C)
c.*570G>C (n.*570G>C)
c.*70G>C (n.*70G>C)
c.*952G>C (n.*952G>C)
c.1248G>C (p.Arg416Ser)
c.1200G>C (p.Arg400Ser)
n.331G>C
c.1203G>C (p.Arg401Ser)
Xg.154532744C>TCA519714516G6PDc.1110G>A (p.Arg370=)
c.1113G>A (p.Arg371=)
c.973G>A
c.976G>A
c.962G>A (n.962G>A)
c.*23G>A (n.*23G>A)
c.*570G>A (n.*570G>A)
c.*70G>A (n.*70G>A)
c.*952G>A (n.*952G>A)
c.1248G>A (p.Arg416=)
c.1200G>A (p.Arg400=)
n.331G>A
c.1203G>A (p.Arg401=)
Xg.154532745C>ACA10566078G6PDc.1109G>T (p.Arg370Met)
c.1112G>T (p.Arg371Met)
c.972G>T
c.975G>T
c.961G>T (n.961G>T)
c.*22G>T (n.*22G>T)
c.*569G>T (n.*569G>T)
c.*69G>T (n.*69G>T)
c.*951G>T (n.*951G>T)
c.1247G>T (p.Arg416Met)
c.1199G>T (p.Arg400Met)
n.330G>T
c.1202G>T (p.Arg401Met)
 dbSNP ExAC
Xg.154532745C=CA2466723466G6PDc.1109G= (p.Arg370=)
c.1112G= (p.Arg371=)
c.972G=
c.975G=
c.961G= (n.961G=)
c.*22G= (n.*22G=)
c.*569G= (n.*569G=)
c.*69G= (n.*69G=)
c.*951G= (n.*951G=)
c.1247G= (p.Arg416=)
c.1199G= (p.Arg400=)
n.330G=
c.1202G= (p.Arg401=)
Xg.154532745C>GCA415234209G6PDc.1109G>C (p.Arg370Thr)
c.1112G>C (p.Arg371Thr)
c.972G>C
c.975G>C
c.961G>C (n.961G>C)
c.*22G>C (n.*22G>C)
c.*569G>C (n.*569G>C)
c.*69G>C (n.*69G>C)
c.*951G>C (n.*951G>C)
c.1247G>C (p.Arg416Thr)
c.1199G>C (p.Arg400Thr)
n.330G>C
c.1202G>C (p.Arg401Thr)
Xg.154532745C>TCA415234210G6PDc.1109G>A (p.Arg370Lys)
c.1112G>A (p.Arg371Lys)
c.972G>A
c.975G>A
c.961G>A (n.961G>A)
c.*22G>A (n.*22G>A)
c.*569G>A (n.*569G>A)
c.*69G>A (n.*69G>A)
c.*951G>A (n.*951G>A)
c.1247G>A (p.Arg416Lys)
c.1199G>A (p.Arg400Lys)
n.330G>A
c.1202G>A (p.Arg401Lys)
Xg.154532746T>ACA415234211G6PDc.1108A>T (p.Arg370Trp)
c.1111A>T (p.Arg371Trp)
c.971A>T
c.974A>T
c.960A>T (n.960A>T)
c.*21A>T (n.*21A>T)
c.*568A>T (n.*568A>T)
c.*68A>T (n.*68A>T)
c.*950A>T (n.*950A>T)
c.1246A>T (p.Arg416Trp)
c.1198A>T (p.Arg400Trp)
n.329A>T
c.1201A>T (p.Arg401Trp)
Xg.154532746T>CCA415234212G6PDc.1108A>G (p.Arg370Gly)
c.1111A>G (p.Arg371Gly)
c.971A>G
c.974A>G
c.960A>G (n.960A>G)
c.*21A>G (n.*21A>G)
c.*568A>G (n.*568A>G)
c.*68A>G (n.*68A>G)
c.*950A>G (n.*950A>G)
c.1246A>G (p.Arg416Gly)
c.1198A>G (p.Arg400Gly)
n.329A>G
c.1201A>G (p.Arg401Gly)
Xg.154532746T>GCA519714520G6PDc.1108A>C (p.Arg370=)
c.1111A>C (p.Arg371=)
c.971A>C
c.974A>C
c.960A>C (n.960A>C)
c.*21A>C (n.*21A>C)
c.*568A>C (n.*568A>C)
c.*68A>C (n.*68A>C)
c.*950A>C (n.*950A>C)
c.1246A>C (p.Arg416=)
c.1198A>C (p.Arg400=)
n.329A>C
c.1201A>C (p.Arg401=)
 ClinVar
Xg.154532747C>ACA519714521G6PDc.1107G>T (p.Val369=)
c.1110G>T (p.Val370=)
c.970G>T
c.973G>T
c.959G>T (n.959G>T)
c.*20G>T (n.*20G>T)
c.*567G>T (n.*567G>T)
c.*67G>T (n.*67G>T)
c.*949G>T (n.*949G>T)
c.1245G>T (p.Val415=)
c.1197G>T (p.Val399=)
n.328G>T
c.1200G>T (p.Val400=)
Xg.154532747C>GCA519714525G6PDc.1107G>C (p.Val369=)
c.1110G>C (p.Val370=)
c.970G>C
c.973G>C
c.959G>C (n.959G>C)
c.*20G>C (n.*20G>C)
c.*567G>C (n.*567G>C)
c.*67G>C (n.*67G>C)
c.*949G>C (n.*949G>C)
c.1245G>C (p.Val415=)
c.1197G>C (p.Val399=)
n.328G>C
c.1200G>C (p.Val400=)
Xg.154532747C>TCA519714526G6PDc.1107G>A (p.Val369=)
c.1110G>A (p.Val370=)
c.970G>A
c.973G>A
c.959G>A (n.959G>A)
c.*20G>A (n.*20G>A)
c.*567G>A (n.*567G>A)
c.*67G>A (n.*67G>A)
c.*949G>A (n.*949G>A)
c.1245G>A (p.Val415=)
c.1197G>A (p.Val399=)
n.328G>A
c.1200G>A (p.Val400=)
Xg.154532748A>CCA415234213G6PDc.1106T>G (p.Val369Gly)
c.1109T>G (p.Val370Gly)
c.969T>G
c.972T>G
c.958T>G (n.958T>G)
c.*19T>G (n.*19T>G)
c.*566T>G (n.*566T>G)
c.*66T>G (n.*66T>G)
c.*948T>G (n.*948T>G)
c.1244T>G (p.Val415Gly)
c.1196T>G (p.Val399Gly)
n.327T>G
c.1199T>G (p.Val400Gly)
Xg.154532748A>GCA415234214G6PDc.1106T>C (p.Val369Ala)
c.1109T>C (p.Val370Ala)
c.969T>C
c.972T>C
c.958T>C (n.958T>C)
c.*19T>C (n.*19T>C)
c.*566T>C (n.*566T>C)
c.*66T>C (n.*66T>C)
c.*948T>C (n.*948T>C)
c.1244T>C (p.Val415Ala)
c.1196T>C (p.Val399Ala)
n.327T>C
c.1199T>C (p.Val400Ala)
Xg.[154532748A>G;154534483T>A]CA2580573391G6PDc.[499A>T;1106T>C] (p.[Ile167Phe;Val369Ala])
c.[502A>T;1109T>C] (p.[Ile168Phe;Val370Ala])
c.[362A>T;969T>C]
c.[365A>T;972T>C]
c.[379A>T;958T>C] ([p.Ile127Phe;n.958T>C])
c.[499A>T;*19T>C] ([p.Ile167Phe;n.*19T>C])
c.[499A>T;*566T>C] ([p.Ile167Phe;n.*566T>C])
c.[499A>T;*66T>C] ([p.Ile167Phe;n.*66T>C])
c.[*341A>T;*948T>C] (n.[*341A>T;*948T>C])
c.[499A>T;1244T>C] (p.[Ile167Phe;Val415Ala])
c.[589A>T;1196T>C] (p.[Ile197Phe;Val399Ala])
c.[592A>T;1199T>C] (p.[Ile198Phe;Val400Ala])
c.[592A>T;*19T>C] ([p.Ile198Phe;n.*19T>C])
Xg.154532748A>TCA415234215G6PDc.1106T>A (p.Val369Glu)
c.1109T>A (p.Val370Glu)
c.969T>A
c.972T>A
c.958T>A (n.958T>A)
c.*19T>A (n.*19T>A)
c.*566T>A (n.*566T>A)
c.*66T>A (n.*66T>A)
c.*948T>A (n.*948T>A)
c.1244T>A (p.Val415Glu)
c.1196T>A (p.Val399Glu)
n.327T>A
c.1199T>A (p.Val400Glu)
Xg.154532749C>ACA415234218G6PDc.1105G>T (p.Val369Leu)
c.1108G>T (p.Val370Leu)
c.968G>T
c.971G>T
c.957G>T (n.957G>T)
c.*18G>T (n.*18G>T)
c.*565G>T (n.*565G>T)
c.*65G>T (n.*65G>T)
c.*947G>T (n.*947G>T)
c.1243G>T (p.Val415Leu)
c.1195G>T (p.Val399Leu)
n.326G>T
c.1198G>T (p.Val400Leu)
Xg.154532749C>GCA415234216G6PDc.1105G>C (p.Val369Leu)
c.1108G>C (p.Val370Leu)
c.968G>C
c.971G>C
c.957G>C (n.957G>C)
c.*18G>C (n.*18G>C)
c.*565G>C (n.*565G>C)
c.*65G>C (n.*65G>C)
c.*947G>C (n.*947G>C)
c.1243G>C (p.Val415Leu)
c.1195G>C (p.Val399Leu)
n.326G>C
c.1198G>C (p.Val400Leu)
Xg.154532749C>TCA415234217G6PDc.1105G>A (p.Val369Met)
c.1108G>A (p.Val370Met)
c.968G>A
c.971G>A
c.957G>A (n.957G>A)
c.*18G>A (n.*18G>A)
c.*565G>A (n.*565G>A)
c.*65G>A (n.*65G>A)
c.*947G>A (n.*947G>A)
c.1243G>A (p.Val415Met)
c.1195G>A (p.Val399Met)
n.326G>A
c.1198G>A (p.Val400Met)
Xg.154532750C>ACA415234219G6PDc.1104G>T (p.Glu368Asp)
c.1107G>T (p.Glu369Asp)
c.967G>T
c.970G>T
c.956G>T (n.956G>T)
c.*17G>T (n.*17G>T)
c.*564G>T (n.*564G>T)
c.*64G>T (n.*64G>T)
c.*946G>T (n.*946G>T)
c.1242G>T (p.Glu414Asp)
c.1194G>T (p.Glu398Asp)
n.325G>T
c.1197G>T (p.Glu399Asp)
Xg.154532750C=CA2466723467G6PDc.1104G= (p.Glu368=)
c.1107G= (p.Glu369=)
c.967G=
c.970G=
c.956G= (n.956G=)
c.*17G= (n.*17G=)
c.*564G= (n.*564G=)
c.*64G= (n.*64G=)
c.*946G= (n.*946G=)
c.1242G= (p.Glu414=)
c.1194G= (p.Glu398=)
n.325G=
c.1197G= (p.Glu399=)
Xg.154532750C>GCA415234220G6PDc.1104G>C (p.Glu368Asp)
c.1107G>C (p.Glu369Asp)
c.967G>C
c.970G>C
c.956G>C (n.956G>C)
c.*17G>C (n.*17G>C)
c.*564G>C (n.*564G>C)
c.*64G>C (n.*64G>C)
c.*946G>C (n.*946G>C)
c.1242G>C (p.Glu414Asp)
c.1194G>C (p.Glu398Asp)
n.325G>C
c.1197G>C (p.Glu399Asp)
 ClinVar dbSNP
Xg.154532750C>TCA519714530G6PDc.1104G>A (p.Glu368=)
c.1107G>A (p.Glu369=)
c.967G>A
c.970G>A
c.956G>A (n.956G>A)
c.*17G>A (n.*17G>A)
c.*564G>A (n.*564G>A)
c.*64G>A (n.*64G>A)
c.*946G>A (n.*946G>A)
c.1242G>A (p.Glu414=)
c.1194G>A (p.Glu398=)
n.325G>A
c.1197G>A (p.Glu399=)
 dbSNP
Xg.154532751T>ACA415234221G6PDc.1103A>T (p.Glu368Val)
c.1106A>T (p.Glu369Val)
c.966A>T
c.969A>T
c.955A>T (n.955A>T)
c.*16A>T (n.*16A>T)
c.*563A>T (n.*563A>T)
c.*63A>T (n.*63A>T)
c.*945A>T (n.*945A>T)
c.1241A>T (p.Glu414Val)
c.1193A>T (p.Glu398Val)
n.324A>T
c.1196A>T (p.Glu399Val)
Xg.154532751T>CCA415234222G6PDc.1103A>G (p.Glu368Gly)
c.1106A>G (p.Glu369Gly)
c.966A>G
c.969A>G
c.955A>G (n.955A>G)
c.*16A>G (n.*16A>G)
c.*563A>G (n.*563A>G)
c.*63A>G (n.*63A>G)
c.*945A>G (n.*945A>G)
c.1241A>G (p.Glu414Gly)
c.1193A>G (p.Glu398Gly)
n.324A>G
c.1196A>G (p.Glu399Gly)
Xg.154532751T>GCA415234223G6PDc.1103A>C (p.Glu368Ala)
c.1106A>C (p.Glu369Ala)
c.966A>C
c.969A>C
c.955A>C (n.955A>C)
c.*16A>C (n.*16A>C)
c.*563A>C (n.*563A>C)
c.*63A>C (n.*63A>C)
c.*945A>C (n.*945A>C)
c.1241A>C (p.Glu414Ala)
c.1193A>C (p.Glu398Ala)
n.324A>C
c.1196A>C (p.Glu399Ala)
Xg.154532752C>ACA415234224G6PDc.1102G>T (p.Glu368Ter)
c.1105G>T (p.Glu369Ter)
c.965G>T
c.968G>T
c.954G>T (n.954G>T)
c.*15G>T (n.*15G>T)
c.*562G>T (n.*562G>T)
c.*62G>T (n.*62G>T)
c.*944G>T (n.*944G>T)
c.1240G>T (p.Glu414Ter)
c.1192G>T (p.Glu398Ter)
n.323G>T
c.1195G>T (p.Glu399Ter)
Xg.154532752C=CA2466723468G6PDc.1102G= (p.Glu368=)
c.1105G= (p.Glu369=)
c.965G=
c.968G=
c.954G= (n.954G=)
c.*15G= (n.*15G=)
c.*562G= (n.*562G=)
c.*62G= (n.*62G=)
c.*944G= (n.*944G=)
c.1240G= (p.Glu414=)
c.1192G= (p.Glu398=)
n.323G=
c.1195G= (p.Glu399=)
Xg.154532752C>GCA415234225G6PDc.1102G>C (p.Glu368Gln)
c.1105G>C (p.Glu369Gln)
c.965G>C
c.968G>C
c.954G>C (n.954G>C)
c.*15G>C (n.*15G>C)
c.*562G>C (n.*562G>C)
c.*62G>C (n.*62G>C)
c.*944G>C (n.*944G>C)
c.1240G>C (p.Glu414Gln)
c.1192G>C (p.Glu398Gln)
n.323G>C
c.1195G>C (p.Glu399Gln)
Xg.154532752C>TCA120981G6PDc.1102G>A (p.Glu368Lys)
c.1105G>A (p.Glu369Lys)
c.965G>A
c.968G>A
c.954G>A (n.954G>A)
c.*15G>A (n.*15G>A)
c.*562G>A (n.*562G>A)
c.*62G>A (n.*62G>A)
c.*944G>A (n.*944G>A)
c.1240G>A (p.Glu414Lys)
c.1192G>A (p.Glu398Lys)
n.323G>A
c.1195G>A (p.Glu399Lys)
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.154532753G>ACA519714532G6PDc.1101C>T (p.Ala367=)
c.1104C>T (p.Ala368=)
c.964C>T
c.967C>T
c.953C>T (n.953C>T)
c.*14C>T (n.*14C>T)
c.*561C>T (n.*561C>T)
c.*61C>T (n.*61C>T)
c.*943C>T (n.*943C>T)
c.1239C>T (p.Ala413=)
c.1191C>T (p.Ala397=)
n.322C>T
c.1194C>T (p.Ala398=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154532753G>CCA519714533G6PDc.1101C>G (p.Ala367=)
c.1104C>G (p.Ala368=)
c.964C>G
c.967C>G
c.953C>G (n.953C>G)
c.*14C>G (n.*14C>G)
c.*561C>G (n.*561C>G)
c.*61C>G (n.*61C>G)
c.*943C>G (n.*943C>G)
c.1239C>G (p.Ala413=)
c.1191C>G (p.Ala397=)
n.322C>G
c.1194C>G (p.Ala398=)
Xg.154532753G=CA2466723469G6PDc.1101C= (p.Ala367=)
c.1104C= (p.Ala368=)
c.964C=
c.967C=
c.953C= (n.953C=)
c.*14C= (n.*14C=)
c.*561C= (n.*561C=)
c.*61C= (n.*61C=)
c.*943C= (n.*943C=)
c.1239C= (p.Ala413=)
c.1191C= (p.Ala397=)
n.322C=
c.1194C= (p.Ala398=)
Xg.154532753G>TCA519714534G6PDc.1101C>A (p.Ala367=)
c.1104C>A (p.Ala368=)
c.964C>A
c.967C>A
c.953C>A (n.953C>A)
c.*14C>A (n.*14C>A)
c.*561C>A (n.*561C>A)
c.*61C>A (n.*61C>A)
c.*943C>A (n.*943C>A)
c.1239C>A (p.Ala413=)
c.1191C>A (p.Ala397=)
n.322C>A
c.1194C>A (p.Ala398=)
Xg.154532761_154532778delCA2580101791G6PDc.1084_1101del (p.Leu362_Ala367del)
c.1087_1104del (p.Leu363_Ala368del)
c.947_964del
c.950_967del
c.936_953del (n.936_953del)
c.897_*14del (n.[c.897_*14del;Ter300ArgextTer2])
c.*544_*561del (n.*544_*561del)
c.*44_*61del (n.*44_*61del)
c.*926_*943del (n.*926_*943del)
c.1222_1239del (p.Leu408_Ala413del)
c.1174_1191del (p.Leu392_Ala397del)
n.305_322del
c.1177_1194del (p.Leu393_Ala398del)
c.990_*14del (n.[c.990_*14del;Ter331ArgextTer2])
 ClinVar
Xg.154532754G>ACA415234226G6PDc.1100C>T (p.Ala367Val)
c.1103C>T (p.Ala368Val)
c.963C>T
c.966C>T
c.952C>T (n.952C>T)
c.*13C>T (n.*13C>T)
c.*560C>T (n.*560C>T)
c.*60C>T (n.*60C>T)
c.*942C>T (n.*942C>T)
c.1238C>T (p.Ala413Val)
c.1190C>T (p.Ala397Val)
n.321C>T
c.1193C>T (p.Ala398Val)
Xg.154532754G>CCA415234227G6PDc.1100C>G (p.Ala367Gly)
c.1103C>G (p.Ala368Gly)
c.963C>G
c.966C>G
c.952C>G (n.952C>G)
c.*13C>G (n.*13C>G)
c.*560C>G (n.*560C>G)
c.*60C>G (n.*60C>G)
c.*942C>G (n.*942C>G)
c.1238C>G (p.Ala413Gly)
c.1190C>G (p.Ala397Gly)
n.321C>G
c.1193C>G (p.Ala398Gly)
Xg.154532754G>TCA415234228G6PDc.1100C>A (p.Ala367Asp)
c.1103C>A (p.Ala368Asp)
c.963C>A
c.966C>A
c.952C>A (n.952C>A)
c.*13C>A (n.*13C>A)
c.*560C>A (n.*560C>A)
c.*60C>A (n.*60C>A)
c.*942C>A (n.*942C>A)
c.1238C>A (p.Ala413Asp)
c.1190C>A (p.Ala397Asp)
n.321C>A
c.1193C>A (p.Ala398Asp)
Xg.154532755C>ACA415234229G6PDc.1099G>T (p.Ala367Ser)
c.1102G>T (p.Ala368Ser)
c.962G>T
c.965G>T
c.951G>T (n.951G>T)
c.*12G>T (n.*12G>T)
c.*559G>T (n.*559G>T)
c.*59G>T (n.*59G>T)
c.*941G>T (n.*941G>T)
c.1237G>T (p.Ala413Ser)
c.1189G>T (p.Ala397Ser)
n.320G>T
c.1192G>T (p.Ala398Ser)
Xg.154532755C>GCA415234231G6PDc.1099G>C (p.Ala367Pro)
c.1102G>C (p.Ala368Pro)
c.962G>C
c.965G>C
c.951G>C (n.951G>C)
c.*12G>C (n.*12G>C)
c.*559G>C (n.*559G>C)
c.*59G>C (n.*59G>C)
c.*941G>C (n.*941G>C)
c.1237G>C (p.Ala413Pro)
c.1189G>C (p.Ala397Pro)
n.320G>C
c.1192G>C (p.Ala398Pro)
Xg.154532755C>TCA415234230G6PDc.1099G>A (p.Ala367Thr)
c.1102G>A (p.Ala368Thr)
c.962G>A
c.965G>A
c.951G>A (n.951G>A)
c.*12G>A (n.*12G>A)
c.*559G>A (n.*559G>A)
c.*59G>A (n.*59G>A)
c.*941G>A (n.*941G>A)
c.1237G>A (p.Ala413Thr)
c.1189G>A (p.Ala397Thr)
n.320G>A
c.1192G>A (p.Ala398Thr)
Xg.154532756C>ACA415234232G6PDc.1098G>T (p.Lys366Asn)
c.1101G>T (p.Lys367Asn)
c.961G>T
c.964G>T
c.950G>T (n.950G>T)
c.*11G>T (n.*11G>T)
c.*558G>T (n.*558G>T)
c.*58G>T (n.*58G>T)
c.*940G>T (n.*940G>T)
c.1236G>T (p.Lys412Asn)
c.1188G>T (p.Lys396Asn)
n.319G>T
c.1191G>T (p.Lys397Asn)
Xg.154532756C=CA2466723470G6PDc.1098G= (p.Lys366=)
c.1101G= (p.Lys367=)
c.961G=
c.964G=
c.950G= (n.950G=)
c.*11G= (n.*11G=)
c.*558G= (n.*558G=)
c.*58G= (n.*58G=)
c.*940G= (n.*940G=)
c.1236G= (p.Lys412=)
c.1188G= (p.Lys396=)
n.319G=
c.1191G= (p.Lys397=)
Xg.154532756C>GCA415234233G6PDc.1098G>C (p.Lys366Asn)
c.1101G>C (p.Lys367Asn)
c.961G>C
c.964G>C
c.950G>C (n.950G>C)
c.*11G>C (n.*11G>C)
c.*558G>C (n.*558G>C)
c.*58G>C (n.*58G>C)
c.*940G>C (n.*940G>C)
c.1236G>C (p.Lys412Asn)
c.1188G>C (p.Lys396Asn)
n.319G>C
c.1191G>C (p.Lys397Asn)
Xg.154532756C>TCA519714541G6PDc.1098G>A (p.Lys366=)
c.1101G>A (p.Lys367=)
c.961G>A
c.964G>A
c.950G>A (n.950G>A)
c.*11G>A (n.*11G>A)
c.*558G>A (n.*558G>A)
c.*58G>A (n.*58G>A)
c.*940G>A (n.*940G>A)
c.1236G>A (p.Lys412=)
c.1188G>A (p.Lys396=)
n.319G>A
c.1191G>A (p.Lys397=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.154532757T>ACA415234234G6PDc.1097A>T (p.Lys366Met)
c.1100A>T (p.Lys367Met)
c.960A>T
c.963A>T
c.949A>T (n.949A>T)
c.*10A>T (n.*10A>T)
c.*557A>T (n.*557A>T)
c.*57A>T (n.*57A>T)
c.*939A>T (n.*939A>T)
c.1235A>T (p.Lys412Met)
c.1187A>T (p.Lys396Met)
n.318A>T
c.1190A>T (p.Lys397Met)
Xg.154532757T>CCA415234235G6PDc.1097A>G (p.Lys366Arg)
c.1100A>G (p.Lys367Arg)
c.960A>G
c.963A>G
c.949A>G (n.949A>G)
c.*10A>G (n.*10A>G)
c.*557A>G (n.*557A>G)
c.*57A>G (n.*57A>G)
c.*939A>G (n.*939A>G)
c.1235A>G (p.Lys412Arg)
c.1187A>G (p.Lys396Arg)
n.318A>G
c.1190A>G (p.Lys397Arg)
Xg.154532757T>GCA415234236G6PDc.1097A>C (p.Lys366Thr)
c.1100A>C (p.Lys367Thr)
c.960A>C
c.963A>C
c.949A>C (n.949A>C)
c.*10A>C (n.*10A>C)
c.*557A>C (n.*557A>C)
c.*57A>C (n.*57A>C)
c.*939A>C (n.*939A>C)
c.1235A>C (p.Lys412Thr)
c.1187A>C (p.Lys396Thr)
n.318A>C
c.1190A>C (p.Lys397Thr)
Xg.154532758T>ACA415234237G6PDc.1096A>T (p.Lys366Ter)
c.1099A>T (p.Lys367Ter)
c.959A>T
c.962A>T
c.948A>T (n.948A>T)
c.*9A>T (n.*9A>T)
c.*556A>T (n.*556A>T)
c.*56A>T (n.*56A>T)
c.*938A>T (n.*938A>T)
c.1234A>T (p.Lys412Ter)
c.1186A>T (p.Lys396Ter)
n.317A>T
c.1189A>T (p.Lys397Ter)
Xg.154532758T>CCA16043581G6PDc.1096A>G (p.Lys366Glu)
c.1099A>G (p.Lys367Glu)
c.959A>G
c.962A>G
c.948A>G (n.948A>G)
c.*9A>G (n.*9A>G)
c.*556A>G (n.*556A>G)
c.*56A>G (n.*56A>G)
c.*938A>G (n.*938A>G)
c.1234A>G (p.Lys412Glu)
c.1186A>G (p.Lys396Glu)
n.317A>G
c.1189A>G (p.Lys397Glu)
 ClinVar dbSNP
Xg.154532758T>GCA415234238G6PDc.1096A>C (p.Lys366Gln)
c.1099A>C (p.Lys367Gln)
c.959A>C
c.962A>C
c.948A>C (n.948A>C)
c.*9A>C (n.*9A>C)
c.*556A>C (n.*556A>C)
c.*56A>C (n.*56A>C)
c.*938A>C (n.*938A>C)
c.1234A>C (p.Lys412Gln)
c.1186A>C (p.Lys396Gln)
n.317A>C
c.1189A>C (p.Lys397Gln)
Xg.154532758T=CA2466723471G6PDc.1096A= (p.Lys366=)
c.1099A= (p.Lys367=)
c.959A=
c.962A=
c.948A= (n.948A=)
c.*9A= (n.*9A=)
c.*556A= (n.*556A=)
c.*56A= (n.*56A=)
c.*938A= (n.*938A=)
c.1234A= (p.Lys412=)
c.1186A= (p.Lys396=)
n.317A=
c.1189A= (p.Lys397=)
Xg.154532759G>ACA519714545G6PDc.1095C>T (p.Arg365=)
c.1098C>T (p.Arg366=)
c.958C>T
c.961C>T
c.947C>T (n.947C>T)
c.*8C>T (n.*8C>T)
c.*555C>T (n.*555C>T)
c.*55C>T (n.*55C>T)
c.*937C>T (n.*937C>T)
c.1233C>T (p.Arg411=)
c.1185C>T (p.Arg395=)
n.316C>T
c.1188C>T (p.Arg396=)
Xg.154532759G>CCA519714546G6PDc.1095C>G (p.Arg365=)
c.1098C>G (p.Arg366=)
c.958C>G
c.961C>G
c.947C>G (n.947C>G)
c.*8C>G (n.*8C>G)
c.*555C>G (n.*555C>G)
c.*55C>G (n.*55C>G)
c.*937C>G (n.*937C>G)
c.1233C>G (p.Arg411=)
c.1185C>G (p.Arg395=)
n.316C>G
c.1188C>G (p.Arg396=)
Xg.154532759G>TCA519714547G6PDc.1095C>A (p.Arg365=)
c.1098C>A (p.Arg366=)
c.958C>A
c.961C>A
c.947C>A (n.947C>A)
c.*8C>A (n.*8C>A)
c.*555C>A (n.*555C>A)
c.*55C>A (n.*55C>A)
c.*937C>A (n.*937C>A)
c.1233C>A (p.Arg411=)
c.1185C>A (p.Arg395=)
n.316C>A
c.1188C>A (p.Arg396=)
Xg.154532760C>ACA415234239G6PDc.1094G>T (p.Arg365Leu)
c.1097G>T (p.Arg366Leu)
c.957G>T
c.960G>T
c.946G>T (n.946G>T)
c.*7G>T (n.*7G>T)
c.*554G>T (n.*554G>T)
c.*54G>T (n.*54G>T)
c.*936G>T (n.*936G>T)
c.1232G>T (p.Arg411Leu)
c.1184G>T (p.Arg395Leu)
n.315G>T
c.1187G>T (p.Arg396Leu)
Xg.154532760C=CA2466723472G6PDc.1094G= (p.Arg365=)
c.1097G= (p.Arg366=)
c.957G=
c.960G=
c.946G= (n.946G=)
c.*7G= (n.*7G=)
c.*554G= (n.*554G=)
c.*54G= (n.*54G=)
c.*936G= (n.*936G=)
c.1232G= (p.Arg411=)
c.1184G= (p.Arg395=)
n.315G=
c.1187G= (p.Arg396=)
Xg.154532760C>GCA415234240G6PDc.1094G>C (p.Arg365Pro)
c.1097G>C (p.Arg366Pro)
c.957G>C
c.960G>C
c.946G>C (n.946G>C)
c.*7G>C (n.*7G>C)
c.*554G>C (n.*554G>C)
c.*54G>C (n.*54G>C)
c.*936G>C (n.*936G>C)
c.1232G>C (p.Arg411Pro)
c.1184G>C (p.Arg395Pro)
n.315G>C
c.1187G>C (p.Arg396Pro)
Xg.154532760C>TCA10566079G6PDc.1094G>A (p.Arg365His)
c.1097G>A (p.Arg366His)
c.957G>A
c.960G>A
c.946G>A (n.946G>A)
c.*7G>A (n.*7G>A)
c.*554G>A (n.*554G>A)
c.*54G>A (n.*54G>A)
c.*936G>A (n.*936G>A)
c.1232G>A (p.Arg411His)
c.1184G>A (p.Arg395His)
n.315G>A
c.1187G>A (p.Arg396His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154532761G>ACA415234241G6PDc.1093C>T (p.Arg365Cys)
c.1096C>T (p.Arg366Cys)
c.956C>T
c.959C>T
c.945C>T (n.945C>T)
c.*6C>T (n.*6C>T)
c.*553C>T (n.*553C>T)
c.*53C>T (n.*53C>T)
c.*935C>T (n.*935C>T)
c.1231C>T (p.Arg411Cys)
c.1183C>T (p.Arg395Cys)
n.314C>T
c.1186C>T (p.Arg396Cys)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC
Xg.154532761G>CCA415234242G6PDc.1093C>G (p.Arg365Gly)
c.1096C>G (p.Arg366Gly)
c.956C>G
c.959C>G
c.945C>G (n.945C>G)
c.*6C>G (n.*6C>G)
c.*553C>G (n.*553C>G)
c.*53C>G (n.*53C>G)
c.*935C>G (n.*935C>G)
c.1231C>G (p.Arg411Gly)
c.1183C>G (p.Arg395Gly)
n.314C>G
c.1186C>G (p.Arg396Gly)
Xg.154532761G=CA2466723473G6PDc.1093C= (p.Arg365=)
c.1096C= (p.Arg366=)
c.956C=
c.959C=
c.945C= (n.945C=)
c.*6C= (n.*6C=)
c.*553C= (n.*553C=)
c.*53C= (n.*53C=)
c.*935C= (n.*935C=)
c.1231C= (p.Arg411=)
c.1183C= (p.Arg395=)
n.314C=
c.1186C= (p.Arg396=)
Xg.154532761G>TCA415234243G6PDc.1093C>A (p.Arg365Ser)
c.1096C>A (p.Arg366Ser)
c.956C>A
c.959C>A
c.945C>A (n.945C>A)
c.*6C>A (n.*6C>A)
c.*553C>A (n.*553C>A)
c.*53C>A (n.*53C>A)
c.*935C>A (n.*935C>A)
c.1231C>A (p.Arg411Ser)
c.1183C>A (p.Arg395Ser)
n.314C>A
c.1186C>A (p.Arg396Ser)
Xg.154532762C>ACA415234245G6PDc.1092G>T (p.Glu364Asp)
c.1095G>T (p.Glu365Asp)
c.955G>T
c.958G>T
c.944G>T (n.944G>T)
c.*5G>T (n.*5G>T)
c.*552G>T (n.*552G>T)
c.*52G>T (n.*52G>T)
c.*934G>T (n.*934G>T)
c.1230G>T (p.Glu410Asp)
c.1182G>T (p.Glu394Asp)
n.313G>T
c.1185G>T (p.Glu395Asp)
Xg.154532762C>GCA415234244G6PDc.1092G>C (p.Glu364Asp)
c.1095G>C (p.Glu365Asp)
c.955G>C
c.958G>C
c.944G>C (n.944G>C)
c.*5G>C (n.*5G>C)
c.*552G>C (n.*552G>C)
c.*52G>C (n.*52G>C)
c.*934G>C (n.*934G>C)
c.1230G>C (p.Glu410Asp)
c.1182G>C (p.Glu394Asp)
n.313G>C
c.1185G>C (p.Glu395Asp)
Xg.154532762C>TCA519714552G6PDc.1092G>A (p.Glu364=)
c.1095G>A (p.Glu365=)
c.955G>A
c.958G>A
c.944G>A (n.944G>A)
c.*5G>A (n.*5G>A)
c.*552G>A (n.*552G>A)
c.*52G>A (n.*52G>A)
c.*934G>A (n.*934G>A)
c.1230G>A (p.Glu410=)
c.1182G>A (p.Glu394=)
n.313G>A
c.1185G>A (p.Glu395=)
Xg.154532763T>ACA415234246G6PDc.1091A>T (p.Glu364Val)
c.1094A>T (p.Glu365Val)
c.954A>T
c.957A>T
c.943A>T (n.943A>T)
c.*4A>T (n.*4A>T)
c.*551A>T (n.*551A>T)
c.*51A>T (n.*51A>T)
c.*933A>T (n.*933A>T)
c.1229A>T (p.Glu410Val)
c.1181A>T (p.Glu394Val)
n.312A>T
c.1184A>T (p.Glu395Val)
Xg.154532763T>CCA415234247G6PDc.1091A>G (p.Glu364Gly)
c.1094A>G (p.Glu365Gly)
c.954A>G
c.957A>G
c.943A>G (n.943A>G)
c.*4A>G (n.*4A>G)
c.*551A>G (n.*551A>G)
c.*51A>G (n.*51A>G)
c.*933A>G (n.*933A>G)
c.1229A>G (p.Glu410Gly)
c.1181A>G (p.Glu394Gly)
n.312A>G
c.1184A>G (p.Glu395Gly)
Xg.154532763T>GCA415234248G6PDc.1091A>C (p.Glu364Ala)
c.1094A>C (p.Glu365Ala)
c.954A>C
c.957A>C
c.943A>C (n.943A>C)
c.*4A>C (n.*4A>C)
c.*551A>C (n.*551A>C)
c.*51A>C (n.*51A>C)
c.*933A>C (n.*933A>C)
c.1229A>C (p.Glu410Ala)
c.1181A>C (p.Glu394Ala)
n.312A>C
c.1184A>C (p.Glu395Ala)
Xg.154532764C>ACA415234249G6PDc.1090G>T (p.Glu364Ter)
c.1093G>T (p.Glu365Ter)
c.953G>T
c.956G>T
c.942G>T (n.942G>T)
c.*3G>T (n.*3G>T)
c.*550G>T (n.*550G>T)
c.*50G>T (n.*50G>T)
c.*932G>T (n.*932G>T)
c.1228G>T (p.Glu410Ter)
c.1180G>T (p.Glu394Ter)
n.311G>T
c.1183G>T (p.Glu395Ter)
Xg.154532764C>GCA415234250G6PDc.1090G>C (p.Glu364Gln)
c.1093G>C (p.Glu365Gln)
c.953G>C
c.956G>C
c.942G>C (n.942G>C)
c.*3G>C (n.*3G>C)
c.*550G>C (n.*550G>C)
c.*50G>C (n.*50G>C)
c.*932G>C (n.*932G>C)
c.1228G>C (p.Glu410Gln)
c.1180G>C (p.Glu394Gln)
n.311G>C
c.1183G>C (p.Glu395Gln)
Xg.154532764C>TCA415234251G6PDc.1090G>A (p.Glu364Lys)
c.1093G>A (p.Glu365Lys)
c.953G>A
c.956G>A
c.942G>A (n.942G>A)
c.*3G>A (n.*3G>A)
c.*550G>A (n.*550G>A)
c.*50G>A (n.*50G>A)
c.*932G>A (n.*932G>A)
c.1228G>A (p.Glu410Lys)
c.1180G>A (p.Glu394Lys)
n.311G>A
c.1183G>A (p.Glu395Lys)
 gnomAD v4
Xg.154532765G>ACA519714555G6PDc.1089C>T (p.Asn363=)
c.1092C>T (p.Asn364=)
c.952C>T
c.955C>T
c.941C>T (n.941C>T)
c.*2C>T (n.*2C>T)
c.*549C>T (n.*549C>T)
c.*49C>T (n.*49C>T)
c.*931C>T (n.*931C>T)
c.1227C>T (p.Asn409=)
c.1179C>T (p.Asn393=)
n.310C>T
c.1182C>T (p.Asn394=)
 gnomAD v4
Xg.154532765G>CCA415234252G6PDc.1089C>G (p.Asn363Lys)
c.1092C>G (p.Asn364Lys)
c.952C>G
c.955C>G
c.941C>G (n.941C>G)
c.*2C>G (n.*2C>G)
c.*549C>G (n.*549C>G)
c.*49C>G (n.*49C>G)
c.*931C>G (n.*931C>G)
c.1227C>G (p.Asn409Lys)
c.1179C>G (p.Asn393Lys)
n.310C>G
c.1182C>G (p.Asn394Lys)
 ClinVar dbSNP
Xg.154532765G=CA2466723474G6PDc.1089C= (p.Asn363=)
c.1092C= (p.Asn364=)
c.952C=
c.955C=
c.941C= (n.941C=)
c.*2C= (n.*2C=)
c.*549C= (n.*549C=)
c.*49C= (n.*49C=)
c.*931C= (n.*931C=)
c.1227C= (p.Asn409=)
c.1179C= (p.Asn393=)
n.310C=
c.1182C= (p.Asn394=)
Xg.154532765G>TCA120996G6PDc.1089C>A (p.Asn363Lys)
c.1092C>A (p.Asn364Lys)
c.952C>A
c.955C>A
c.941C>A (n.941C>A)
c.*2C>A (n.*2C>A)
c.*549C>A (n.*549C>A)
c.*49C>A (n.*49C>A)
c.*931C>A (n.*931C>A)
c.1227C>A (p.Asn409Lys)
c.1179C>A (p.Asn393Lys)
n.310C>A
c.1182C>A (p.Asn394Lys)
 ClinVar dbSNP
Xg.154532766T>ACA415234253G6PDc.1088A>T (p.Asn363Ile)
c.1091A>T (p.Asn364Ile)
c.951A>T
c.954A>T
c.940A>T (n.940A>T)
c.*1A>T (n.*1A>T)
c.*548A>T (n.*548A>T)
c.*48A>T (n.*48A>T)
c.*930A>T (n.*930A>T)
c.1226A>T (p.Asn409Ile)
c.1178A>T (p.Asn393Ile)
n.309A>T
c.1181A>T (p.Asn394Ile)
 ClinVar dbSNP
Xg.154532766T>CCA415234254G6PDc.1088A>G (p.Asn363Ser)
c.1091A>G (p.Asn364Ser)
c.951A>G
c.954A>G
c.940A>G (n.940A>G)
c.*1A>G (n.*1A>G)
c.*548A>G (n.*548A>G)
c.*48A>G (n.*48A>G)
c.*930A>G (n.*930A>G)
c.1226A>G (p.Asn409Ser)
c.1178A>G (p.Asn393Ser)
n.309A>G
c.1181A>G (p.Asn394Ser)
Xg.154532766T>GCA415234255G6PDc.1088A>C (p.Asn363Thr)
c.1091A>C (p.Asn364Thr)
c.951A>C
c.954A>C
c.940A>C (n.940A>C)
c.*1A>C (n.*1A>C)
c.*548A>C (n.*548A>C)
c.*48A>C (n.*48A>C)
c.*930A>C (n.*930A>C)
c.1226A>C (p.Asn409Thr)
c.1178A>C (p.Asn393Thr)
n.309A>C
c.1181A>C (p.Asn394Thr)
Xg.154532766T=CA2466723475G6PDc.1088A= (p.Asn363=)
c.1091A= (p.Asn364=)
c.951A=
c.954A=
c.940A= (n.940A=)
c.*1A= (n.*1A=)
c.*548A= (n.*548A=)
c.*48A= (n.*48A=)
c.*930A= (n.*930A=)
c.1226A= (p.Asn409=)
c.1178A= (p.Asn393=)
n.309A=
c.1181A= (p.Asn394=)
Xg.154532767T>ACA415234258G6PDc.1087A>T (p.Asn363Tyr)
c.1090A>T (p.Asn364Tyr)
c.950A>T
c.953A>T
c.939A>T (n.939A>T)
c.900A>T (p.Ter300Cys)
c.*547A>T (n.*547A>T)
c.*47A>T (n.*47A>T)
c.*929A>T (n.*929A>T)
c.1225A>T (p.Asn409Tyr)
c.1177A>T (p.Asn393Tyr)
n.308A>T
c.1180A>T (p.Asn394Tyr)
c.993A>T (p.Ter331Cys)
Xg.154532767T>CCA415234257G6PDc.1087A>G (p.Asn363Asp)
c.1090A>G (p.Asn364Asp)
c.950A>G
c.953A>G
c.939A>G (n.939A>G)
c.900A>G (p.Ter300Trp)
c.*547A>G (n.*547A>G)
c.*47A>G (n.*47A>G)
c.*929A>G (n.*929A>G)
c.1225A>G (p.Asn409Asp)
c.1177A>G (p.Asn393Asp)
n.308A>G
c.1180A>G (p.Asn394Asp)
c.993A>G (p.Ter331Trp)
Xg.154532767T>GCA415234256G6PDc.1087A>C (p.Asn363His)
c.1090A>C (p.Asn364His)
c.950A>C
c.953A>C
c.939A>C (n.939A>C)
c.900A>C (p.Ter300Cys)
c.*547A>C (n.*547A>C)
c.*47A>C (n.*47A>C)
c.*929A>C (n.*929A>C)
c.1225A>C (p.Asn409His)
c.1177A>C (p.Asn393His)
n.308A>C
c.1180A>C (p.Asn394His)
c.993A>C (p.Ter331Cys)
Xg.154532768C>ACA519714559G6PDc.1086G>T (p.Leu362=)
c.1089G>T (p.Leu363=)
c.949G>T
c.952G>T
c.938G>T (n.938G>T)
c.899G>T (p.Ter300Leu)
c.*546G>T (n.*546G>T)
c.*46G>T (n.*46G>T)
c.*928G>T (n.*928G>T)
c.1224G>T (p.Leu408=)
c.1176G>T (p.Leu392=)
n.307G>T
c.1179G>T (p.Leu393=)
c.992G>T (p.Ter331Leu)
Xg.154532768C=CA2466723476G6PDc.1086G= (p.Leu362=)
c.1089G= (p.Leu363=)
c.949G=
c.952G=
c.938G= (n.938G=)
c.899G= (p.Ter300=)
c.*546G= (n.*546G=)
c.*46G= (n.*46G=)
c.*928G= (n.*928G=)
c.1224G= (p.Leu408=)
c.1176G= (p.Leu392=)
n.307G=
c.1179G= (p.Leu393=)
c.992G= (p.Ter331=)
Xg.154532768C>GCA519714560G6PDc.1086G>C (p.Leu362=)
c.1089G>C (p.Leu363=)
c.949G>C
c.952G>C
c.938G>C (n.938G>C)
c.899G>C (p.Ter300Ser)
c.*546G>C (n.*546G>C)
c.*46G>C (n.*46G>C)
c.*928G>C (n.*928G>C)
c.1224G>C (p.Leu408=)
c.1176G>C (p.Leu392=)
n.307G>C
c.1179G>C (p.Leu393=)
c.992G>C (p.Ter331Ser)
Xg.154532768C>TCA519714562G6PDc.1086G>A (p.Leu362=)
c.1089G>A (p.Leu363=)
c.949G>A
c.952G>A
c.938G>A (n.938G>A)
c.899G>A (p.Ter300=)
c.*546G>A (n.*546G>A)
c.*46G>A (n.*46G>A)
c.*928G>A (n.*928G>A)
c.1224G>A (p.Leu408=)
c.1176G>A (p.Leu392=)
n.307G>A
c.1179G>A (p.Leu393=)
c.992G>A (p.Ter331=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154532769A>CCA415234259G6PDc.1085T>G (p.Leu362Arg)
c.1088T>G (p.Leu363Arg)
c.948T>G
c.951T>G
c.937T>G (n.937T>G)
c.898T>G (p.Ter300Gly)
c.*545T>G (n.*545T>G)
c.*45T>G (n.*45T>G)
c.*927T>G (n.*927T>G)
c.1223T>G (p.Leu408Arg)
c.1175T>G (p.Leu392Arg)
n.306T>G
c.1178T>G (p.Leu393Arg)
c.991T>G (p.Ter331Gly)
Xg.154532769A>GCA415234260G6PDc.1085T>C (p.Leu362Pro)
c.1088T>C (p.Leu363Pro)
c.948T>C
c.951T>C
c.937T>C (n.937T>C)
c.898T>C (p.Ter300Arg)
c.*545T>C (n.*545T>C)
c.*45T>C (n.*45T>C)
c.*927T>C (n.*927T>C)
c.1223T>C (p.Leu408Pro)
c.1175T>C (p.Leu392Pro)
n.306T>C
c.1178T>C (p.Leu393Pro)
c.991T>C (p.Ter331Arg)
Xg.154532769A>TCA415234261G6PDc.1085T>A (p.Leu362Gln)
c.1088T>A (p.Leu363Gln)
c.948T>A
c.951T>A
c.937T>A (n.937T>A)
c.898T>A (p.Ter300Arg)
c.*545T>A (n.*545T>A)
c.*45T>A (n.*45T>A)
c.*927T>A (n.*927T>A)
c.1223T>A (p.Leu408Gln)
c.1175T>A (p.Leu392Gln)
n.306T>A
c.1178T>A (p.Leu393Gln)
c.991T>A (p.Ter331Arg)
Xg.154532770G>ACA337316408G6PDc.1084C>T (p.Leu362=)
c.1087C>T (p.Leu363=)
c.947C>T
c.950C>T
c.936C>T (n.936C>T)
c.897C>T (p.Pro299=)
c.*544C>T (n.*544C>T)
c.*44C>T (n.*44C>T)
c.*926C>T (n.*926C>T)
c.1222C>T (p.Leu408=)
c.1174C>T (p.Leu392=)
n.305C>T
c.1177C>T (p.Leu393=)
c.990C>T (p.Pro330=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154532770G>CCA415234262G6PDc.1084C>G (p.Leu362Val)
c.1087C>G (p.Leu363Val)
c.947C>G
c.950C>G
c.936C>G (n.936C>G)
c.897C>G (p.Pro299=)
c.*544C>G (n.*544C>G)
c.*44C>G (n.*44C>G)
c.*926C>G (n.*926C>G)
c.1222C>G (p.Leu408Val)
c.1174C>G (p.Leu392Val)
n.305C>G
c.1177C>G (p.Leu393Val)
c.990C>G (p.Pro330=)
Xg.154532770G=CA2466723477G6PDc.1084C= (p.Leu362=)
c.1087C= (p.Leu363=)
c.947C=
c.950C=
c.936C= (n.936C=)
c.897C= (p.Pro299=)
c.*544C= (n.*544C=)
c.*44C= (n.*44C=)
c.*926C= (n.*926C=)
c.1222C= (p.Leu408=)
c.1174C= (p.Leu392=)
n.305C=
c.1177C= (p.Leu393=)
c.990C= (p.Pro330=)
Xg.154532770G>TCA415234263G6PDc.1084C>A (p.Leu362Met)
c.1087C>A (p.Leu363Met)
c.947C>A
c.950C>A
c.936C>A (n.936C>A)
c.897C>A (p.Pro299=)
c.*544C>A (n.*544C>A)
c.*44C>A (n.*44C>A)
c.*926C>A (n.*926C>A)
c.1222C>A (p.Leu408Met)
c.1174C>A (p.Leu392Met)
n.305C>A
c.1177C>A (p.Leu393Met)
c.990C>A (p.Pro330=)
Xg.154532771G>ACA519714565G6PDc.1083C>T (p.Ala361=)
c.1086C>T (p.Ala362=)
c.946C>T
c.949C>T
c.935C>T (n.935C>T)
c.896C>T (p.Pro299Leu)
c.*543C>T (n.*543C>T)
c.*43C>T (n.*43C>T)
c.*925C>T (n.*925C>T)
c.1221C>T (p.Ala407=)
c.1173C>T (p.Ala391=)
n.304C>T
c.1176C>T (p.Ala392=)
c.989C>T (p.Pro330Leu)
 gnomAD v4
Xg.154532771G>CCA519714567G6PDc.1083C>G (p.Ala361=)
c.1086C>G (p.Ala362=)
c.946C>G
c.949C>G
c.935C>G (n.935C>G)
c.896C>G (p.Pro299Arg)
c.*543C>G (n.*543C>G)
c.*43C>G (n.*43C>G)
c.*925C>G (n.*925C>G)
c.1221C>G (p.Ala407=)
c.1173C>G (p.Ala391=)
n.304C>G
c.1176C>G (p.Ala392=)
c.989C>G (p.Pro330Arg)
Xg.154532771G>TCA519714569G6PDc.1083C>A (p.Ala361=)
c.1086C>A (p.Ala362=)
c.946C>A
c.949C>A
c.935C>A (n.935C>A)
c.896C>A (p.Pro299His)
c.*543C>A (n.*543C>A)
c.*43C>A (n.*43C>A)
c.*925C>A (n.*925C>A)
c.1221C>A (p.Ala407=)
c.1173C>A (p.Ala391=)
n.304C>A
c.1176C>A (p.Ala392=)
c.989C>A (p.Pro330His)
Xg.154532772G>ACA121039G6PDc.1082C>T (p.Ala361Val)
c.1085C>T (p.Ala362Val)
c.945C>T
c.948C>T
c.934C>T (n.934C>T)
c.895C>T (p.Pro299Ser)
c.*542C>T (n.*542C>T)
c.*42C>T (n.*42C>T)
c.*924C>T (n.*924C>T)
c.1220C>T (p.Ala407Val)
c.1172C>T (p.Ala391Val)
n.303C>T
c.1175C>T (p.Ala392Val)
c.988C>T (p.Pro330Ser)
 ClinVar dbSNP COSMIC COSMIC COSMIC
Xg.154532772G>CCA415234264G6PDc.1082C>G (p.Ala361Gly)
c.1085C>G (p.Ala362Gly)
c.945C>G
c.948C>G
c.934C>G (n.934C>G)
c.895C>G (p.Pro299Ala)
c.*542C>G (n.*542C>G)
c.*42C>G (n.*42C>G)
c.*924C>G (n.*924C>G)
c.1220C>G (p.Ala407Gly)
c.1172C>G (p.Ala391Gly)
n.303C>G
c.1175C>G (p.Ala392Gly)
c.988C>G (p.Pro330Ala)
Xg.154532772G=CA2466723478G6PDc.1082C= (p.Ala361=)
c.1085C= (p.Ala362=)
c.945C=
c.948C=
c.934C= (n.934C=)
c.895C= (p.Pro299=)
c.*542C= (n.*542C=)
c.*42C= (n.*42C=)
c.*924C= (n.*924C=)
c.1220C= (p.Ala407=)
c.1172C= (p.Ala391=)
n.303C=
c.1175C= (p.Ala392=)
c.988C= (p.Pro330=)
Xg.154532772G>TCA415234265G6PDc.1082C>A (p.Ala361Asp)
c.1085C>A (p.Ala362Asp)
c.945C>A
c.948C>A
c.934C>A (n.934C>A)
c.895C>A (p.Pro299Thr)
c.*542C>A (n.*542C>A)
c.*42C>A (n.*42C>A)
c.*924C>A (n.*924C>A)
c.1220C>A (p.Ala407Asp)
c.1172C>A (p.Ala391Asp)
n.303C>A
c.1175C>A (p.Ala392Asp)
c.988C>A (p.Pro330Thr)
Xg.154532773C>ACA415234266G6PDc.1081G>T (p.Ala361Ser)
c.1084G>T (p.Ala362Ser)
c.944G>T
c.947G>T
c.933G>T (n.933G>T)
c.894G>T (p.Arg298Ser)
c.*541G>T (n.*541G>T)
c.*41G>T (n.*41G>T)
c.*923G>T (n.*923G>T)
c.1219G>T (p.Ala407Ser)
c.1171G>T (p.Ala391Ser)
n.302G>T
c.1174G>T (p.Ala392Ser)
c.987G>T (p.Arg329Ser)
Xg.154532773C=CA2740130042G6PDc.1081G= (p.Ala361=)
c.1084G= (p.Ala362=)
c.944G=
c.947G=
c.933G= (n.933G=)
c.894G= (p.Arg298=)
c.*541G= (n.*541G=)
c.*41G= (n.*41G=)
c.*923G= (n.*923G=)
c.1219G= (p.Ala407=)
c.1171G= (p.Ala391=)
n.302G=
c.1174G= (p.Ala392=)
c.987G= (p.Arg329=)
Xg.154532773C>GCA415234267G6PDc.1081G>C (p.Ala361Pro)
c.1084G>C (p.Ala362Pro)
c.944G>C
c.947G>C
c.933G>C (n.933G>C)
c.894G>C (p.Arg298Ser)
c.*541G>C (n.*541G>C)
c.*41G>C (n.*41G>C)
c.*923G>C (n.*923G>C)
c.1219G>C (p.Ala407Pro)
c.1171G>C (p.Ala391Pro)
n.302G>C
c.1174G>C (p.Ala392Pro)
c.987G>C (p.Arg329Ser)
Xg.154532773C>TCA415234268G6PDc.1081G>A (p.Ala361Thr)
c.1084G>A (p.Ala362Thr)
c.944G>A
c.947G>A
c.933G>A (n.933G>A)
c.894G>A (p.Arg298=)
c.*541G>A (n.*541G>A)
c.*41G>A (n.*41G>A)
c.*923G>A (n.*923G>A)
c.1219G>A (p.Ala407Thr)
c.1171G>A (p.Ala391Thr)
n.302G>A
c.1174G>A (p.Ala392Thr)
c.987G>A (p.Arg329=)
 ClinVar dbSNP
Xg.154532774C>ACA415234270G6PDc.1080G>T (p.Lys360Asn)
c.1083G>T (p.Lys361Asn)
c.943G>T
c.946G>T
c.932G>T (n.932G>T)
c.893G>T (p.Arg298Met)
c.*540G>T (n.*540G>T)
c.*40G>T (n.*40G>T)
c.*922G>T (n.*922G>T)
c.1218G>T (p.Lys406Asn)
c.1170G>T (p.Lys390Asn)
n.301G>T
c.1173G>T (p.Lys391Asn)
c.986G>T (p.Arg329Met)
Xg.154532774C>GCA415234269G6PDc.1080G>C (p.Lys360Asn)
c.1083G>C (p.Lys361Asn)
c.943G>C
c.946G>C
c.932G>C (n.932G>C)
c.893G>C (p.Arg298Thr)
c.*540G>C (n.*540G>C)
c.*40G>C (n.*40G>C)
c.*922G>C (n.*922G>C)
c.1218G>C (p.Lys406Asn)
c.1170G>C (p.Lys390Asn)
n.301G>C
c.1173G>C (p.Lys391Asn)
c.986G>C (p.Arg329Thr)
Xg.154532774C>TCA519714573G6PDc.1080G>A (p.Lys360=)
c.1083G>A (p.Lys361=)
c.943G>A
c.946G>A
c.932G>A (n.932G>A)
c.893G>A (p.Arg298Lys)
c.*540G>A (n.*540G>A)
c.*40G>A (n.*40G>A)
c.*922G>A (n.*922G>A)
c.1218G>A (p.Lys406=)
c.1170G>A (p.Lys390=)
n.301G>A
c.1173G>A (p.Lys391=)
c.986G>A (p.Arg329Lys)
Xg.154532775T>ACA415234271G6PDc.1079A>T (p.Lys360Met)
c.1082A>T (p.Lys361Met)
c.942A>T
c.945A>T
c.931A>T (n.931A>T)
c.892A>T (p.Arg298Trp)
c.*539A>T (n.*539A>T)
c.*39A>T (n.*39A>T)
c.*921A>T (n.*921A>T)
c.1217A>T (p.Lys406Met)
c.1169A>T (p.Lys390Met)
n.300A>T
c.1172A>T (p.Lys391Met)
c.985A>T (p.Arg329Trp)
Xg.154532775T>CCA415234272G6PDc.1079A>G (p.Lys360Arg)
c.1082A>G (p.Lys361Arg)
c.942A>G
c.945A>G
c.931A>G (n.931A>G)
c.892A>G (p.Arg298Gly)
c.*539A>G (n.*539A>G)
c.*39A>G (n.*39A>G)
c.*921A>G (n.*921A>G)
c.1217A>G (p.Lys406Arg)
c.1169A>G (p.Lys390Arg)
n.300A>G
c.1172A>G (p.Lys391Arg)
c.985A>G (p.Arg329Gly)
Xg.154532775T>GCA415234273G6PDc.1079A>C (p.Lys360Thr)
c.1082A>C (p.Lys361Thr)
c.942A>C
c.945A>C
c.931A>C (n.931A>C)
c.892A>C (p.Arg298=)
c.*539A>C (n.*539A>C)
c.*39A>C (n.*39A>C)
c.*921A>C (n.*921A>C)
c.1217A>C (p.Lys406Thr)
c.1169A>C (p.Lys390Thr)
n.300A>C
c.1172A>C (p.Lys391Thr)
c.985A>C (p.Arg329=)
Xg.154532776T>ACA415234274G6PDc.1078A>T (p.Lys360Ter)
c.1081A>T (p.Lys361Ter)
c.941A>T
c.944A>T
c.930A>T (n.930A>T)
c.891A>T (p.Ala297=)
c.*538A>T (n.*538A>T)
c.*38A>T (n.*38A>T)
c.*920A>T (n.*920A>T)
c.1216A>T (p.Lys406Ter)
c.1168A>T (p.Lys390Ter)
n.299A>T
c.1171A>T (p.Lys391Ter)
c.984A>T (p.Ala328=)
Xg.154532776T>CCA415234275G6PDc.1078A>G (p.Lys360Glu)
c.1081A>G (p.Lys361Glu)
c.941A>G
c.944A>G
c.930A>G (n.930A>G)
c.891A>G (p.Ala297=)
c.*538A>G (n.*538A>G)
c.*38A>G (n.*38A>G)
c.*920A>G (n.*920A>G)
c.1216A>G (p.Lys406Glu)
c.1168A>G (p.Lys390Glu)
n.299A>G
c.1171A>G (p.Lys391Glu)
c.984A>G (p.Ala328=)
Xg.154532776T>GCA415234276G6PDc.1078A>C (p.Lys360Gln)
c.1081A>C (p.Lys361Gln)
c.941A>C
c.944A>C
c.930A>C (n.930A>C)
c.891A>C (p.Ala297=)
c.*538A>C (n.*538A>C)
c.*38A>C (n.*38A>C)
c.*920A>C (n.*920A>C)
c.1216A>C (p.Lys406Gln)
c.1168A>C (p.Lys390Gln)
n.299A>C
c.1171A>C (p.Lys391Gln)
c.984A>C (p.Ala328=)
Xg.154532777G>ACA519714576G6PDc.1077C>T (p.Gly359=)
c.1080C>T (p.Gly360=)
c.940C>T
c.943C>T
c.929C>T (n.929C>T)
c.890C>T (p.Ala297Val)
c.*537C>T (n.*537C>T)
c.*37C>T (n.*37C>T)
c.*919C>T (n.*919C>T)
c.1215C>T (p.Gly405=)
c.1167C>T (p.Gly389=)
n.298C>T
c.1170C>T (p.Gly390=)
c.983C>T (p.Ala328Val)
Xg.154532777G>CCA519714575G6PDc.1077C>G (p.Gly359=)
c.1080C>G (p.Gly360=)
c.940C>G
c.943C>G
c.929C>G (n.929C>G)
c.890C>G (p.Ala297Gly)
c.*537C>G (n.*537C>G)
c.*37C>G (n.*37C>G)
c.*919C>G (n.*919C>G)
c.1215C>G (p.Gly405=)
c.1167C>G (p.Gly389=)
n.298C>G
c.1170C>G (p.Gly390=)
c.983C>G (p.Ala328Gly)
Xg.154532777G>TCA519714574G6PDc.1077C>A (p.Gly359=)
c.1080C>A (p.Gly360=)
c.940C>A
c.943C>A
c.929C>A (n.929C>A)
c.890C>A (p.Ala297Glu)
c.*537C>A (n.*537C>A)
c.*37C>A (n.*37C>A)
c.*919C>A (n.*919C>A)
c.1215C>A (p.Gly405=)
c.1167C>A (p.Gly389=)
n.298C>A
c.1170C>A (p.Gly390=)
c.983C>A (p.Ala328Glu)
Xg.154532778C>ACA415234277G6PDc.1076G>T (p.Gly359Val)
c.1079G>T (p.Gly360Val)
c.939G>T
c.942G>T
c.928G>T (n.928G>T)
c.889G>T (p.Ala297Ser)
c.*536G>T (n.*536G>T)
c.*36G>T (n.*36G>T)
c.*918G>T (n.*918G>T)
c.1214G>T (p.Gly405Val)
c.1166G>T (p.Gly389Val)
n.297G>T
c.1169G>T (p.Gly390Val)
c.982G>T (p.Ala328Ser)
Xg.154532778C>GCA415234278G6PDc.1076G>C (p.Gly359Ala)
c.1079G>C (p.Gly360Ala)
c.939G>C
c.942G>C
c.928G>C (n.928G>C)
c.889G>C (p.Ala297Pro)
c.*536G>C (n.*536G>C)
c.*36G>C (n.*36G>C)
c.*918G>C (n.*918G>C)
c.1214G>C (p.Gly405Ala)
c.1166G>C (p.Gly389Ala)
n.297G>C
c.1169G>C (p.Gly390Ala)
c.982G>C (p.Ala328Pro)
Xg.154532778C>TCA415234279G6PDc.1076G>A (p.Gly359Asp)
c.1079G>A (p.Gly360Asp)
c.939G>A
c.942G>A
c.928G>A (n.928G>A)
c.889G>A (p.Ala297Thr)
c.*536G>A (n.*536G>A)
c.*36G>A (n.*36G>A)
c.*918G>A (n.*918G>A)
c.1214G>A (p.Gly405Asp)
c.1166G>A (p.Gly389Asp)
n.297G>A
c.1169G>A (p.Gly390Asp)
c.982G>A (p.Ala328Thr)
 gnomAD v4
Xg.154532779C>ACA415234280G6PDc.1075G>T (p.Gly359Cys)
c.1078G>T (p.Gly360Cys)
c.938G>T
c.941G>T
c.927G>T (n.927G>T)
c.888G>T (p.Ala296=)
c.*535G>T (n.*535G>T)
c.*35G>T (n.*35G>T)
c.*917G>T (n.*917G>T)
c.1213G>T (p.Gly405Cys)
c.1165G>T (p.Gly389Cys)
n.296G>T
c.1168G>T (p.Gly390Cys)
c.981G>T (p.Ala327=)
Xg.154532779C=CA2466723479G6PDc.1075G= (p.Gly359=)
c.1078G= (p.Gly360=)
c.938G=
c.941G=
c.927G= (n.927G=)
c.888G= (p.Ala296=)
c.*535G= (n.*535G=)
c.*35G= (n.*35G=)
c.*917G= (n.*917G=)
c.1213G= (p.Gly405=)
c.1165G= (p.Gly389=)
n.296G=
c.1168G= (p.Gly390=)
c.981G= (p.Ala327=)
Xg.154532779C>GCA415234281G6PDc.1075G>C (p.Gly359Arg)
c.1078G>C (p.Gly360Arg)
c.938G>C
c.941G>C
c.927G>C (n.927G>C)
c.888G>C (p.Ala296=)
c.*535G>C (n.*535G>C)
c.*35G>C (n.*35G>C)
c.*917G>C (n.*917G>C)
c.1213G>C (p.Gly405Arg)
c.1165G>C (p.Gly389Arg)
n.296G>C
c.1168G>C (p.Gly390Arg)
c.981G>C (p.Ala327=)
Xg.154532779C>TCA415234282G6PDc.1075G>A (p.Gly359Ser)
c.1078G>A (p.Gly360Ser)
c.938G>A
c.941G>A
c.927G>A (n.927G>A)
c.888G>A (p.Ala296=)
c.*535G>A (n.*535G>A)
c.*35G>A (n.*35G>A)
c.*917G>A (n.*917G>A)
c.1213G>A (p.Gly405Ser)
c.1165G>A (p.Gly389Ser)
n.296G>A
c.1168G>A (p.Gly390Ser)
c.981G>A (p.Ala327=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154532780G>ACA10566080G6PDc.1074C>T (p.Cys358=)
c.1077C>T (p.Cys359=)
c.937C>T
c.940C>T
c.926C>T (n.926C>T)
c.887C>T (p.Ala296Val)
c.*534C>T (n.*534C>T)
c.*34C>T (n.*34C>T)
c.*916C>T (n.*916C>T)
c.1212C>T (p.Cys404=)
c.1164C>T (p.Cys388=)
n.295C>T
c.1167C>T (p.Cys389=)
c.980C>T (p.Ala327Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154532780G>CCA415234284G6PDc.1074C>G (p.Cys358Trp)
c.1077C>G (p.Cys359Trp)
c.937C>G
c.940C>G
c.926C>G (n.926C>G)
c.887C>G (p.Ala296Gly)
c.*534C>G (n.*534C>G)
c.*34C>G (n.*34C>G)
c.*916C>G (n.*916C>G)
c.1212C>G (p.Cys404Trp)
c.1164C>G (p.Cys388Trp)
n.295C>G
c.1167C>G (p.Cys389Trp)
c.980C>G (p.Ala327Gly)
Xg.154532780G=CA2466723480G6PDc.1074C= (p.Cys358=)
c.1077C= (p.Cys359=)
c.937C=
c.940C=
c.926C= (n.926C=)
c.887C= (p.Ala296=)
c.*534C= (n.*534C=)
c.*34C= (n.*34C=)
c.*916C= (n.*916C=)
c.1212C= (p.Cys404=)
c.1164C= (p.Cys388=)
n.295C=
c.1167C= (p.Cys389=)
c.980C= (p.Ala327=)
Xg.154532780G>TCA415234283G6PDc.1074C>A (p.Cys358Ter)
c.1077C>A (p.Cys359Ter)
c.937C>A
c.940C>A
c.926C>A (n.926C>A)
c.887C>A (p.Ala296Glu)
c.*534C>A (n.*534C>A)
c.*34C>A (n.*34C>A)
c.*916C>A (n.*916C>A)
c.1212C>A (p.Cys404Ter)
c.1164C>A (p.Cys388Ter)
n.295C>A
c.1167C>A (p.Cys389Ter)
c.980C>A (p.Ala327Glu)
 dbSNP gnomAD v2
Xg.154532781C>ACA415234285G6PDc.1073G>T (p.Cys358Phe)
c.1076G>T (p.Cys359Phe)
c.936G>T
c.939G>T
c.925G>T (n.925G>T)
c.886G>T (p.Ala296Ser)
c.*533G>T (n.*533G>T)
c.*33G>T (n.*33G>T)
c.*915G>T (n.*915G>T)
c.1211G>T (p.Cys404Phe)
c.1163G>T (p.Cys388Phe)
n.294G>T
c.1166G>T (p.Cys389Phe)
c.979G>T (p.Ala327Ser)
Xg.154532781C=CA2466723481G6PDc.1073G= (p.Cys358=)
c.1076G= (p.Cys359=)
c.936G=
c.939G=
c.925G= (n.925G=)
c.886G= (p.Ala296=)
c.*533G= (n.*533G=)
c.*33G= (n.*33G=)
c.*915G= (n.*915G=)
c.1211G= (p.Cys404=)
c.1163G= (p.Cys388=)
n.294G=
c.1166G= (p.Cys389=)
c.979G= (p.Ala327=)
Xg.154532781C>GCA415234287G6PDc.1073G>C (p.Cys358Ser)
c.1076G>C (p.Cys359Ser)
c.936G>C
c.939G>C
c.925G>C (n.925G>C)
c.886G>C (p.Ala296Pro)
c.*533G>C (n.*533G>C)
c.*33G>C (n.*33G>C)
c.*915G>C (n.*915G>C)
c.1211G>C (p.Cys404Ser)
c.1163G>C (p.Cys388Ser)
n.294G>C
c.1166G>C (p.Cys389Ser)
c.979G>C (p.Ala327Pro)
Xg.154532781C>TCA415234286G6PDc.1073G>A (p.Cys358Tyr)
c.1076G>A (p.Cys359Tyr)
c.936G>A
c.939G>A
c.925G>A (n.925G>A)
c.886G>A (p.Ala296Thr)
c.*533G>A (n.*533G>A)
c.*33G>A (n.*33G>A)
c.*915G>A (n.*915G>A)
c.1211G>A (p.Cys404Tyr)
c.1163G>A (p.Cys388Tyr)
n.294G>A
c.1166G>A (p.Cys389Tyr)
c.979G>A (p.Ala327Thr)
 dbSNP
Xg.154532782A>CCA415234288G6PDc.1072T>G (p.Cys358Gly)
c.1075T>G (p.Cys359Gly)
c.935T>G
c.938T>G
c.924T>G (n.924T>G)
c.885T>G (p.Ala295=)
c.*532T>G (n.*532T>G)
c.*32T>G (n.*32T>G)
c.*914T>G (n.*914T>G)
c.1210T>G (p.Cys404Gly)
c.1162T>G (p.Cys388Gly)
n.293T>G
c.1165T>G (p.Cys389Gly)
c.978T>G (p.Ala326=)
 ClinVar
Xg.154532782A>GCA415234289G6PDc.1072T>C (p.Cys358Arg)
c.1075T>C (p.Cys359Arg)
c.935T>C
c.938T>C
c.924T>C (n.924T>C)
c.885T>C (p.Ala295=)
c.*532T>C (n.*532T>C)
c.*32T>C (n.*32T>C)
c.*914T>C (n.*914T>C)
c.1210T>C (p.Cys404Arg)
c.1162T>C (p.Cys388Arg)
n.293T>C
c.1165T>C (p.Cys389Arg)
c.978T>C (p.Ala326=)
Xg.154532782A>TCA415234290G6PDc.1072T>A (p.Cys358Ser)
c.1075T>A (p.Cys359Ser)
c.935T>A
c.938T>A
c.924T>A (n.924T>A)
c.885T>A (p.Ala295=)
c.*532T>A (n.*532T>A)
c.*32T>A (n.*32T>A)
c.*914T>A (n.*914T>A)
c.1210T>A (p.Cys404Ser)
c.1162T>A (p.Cys388Ser)
n.293T>A
c.1165T>A (p.Cys389Ser)
c.978T>A (p.Ala326=)
Xg.154532783G>ACA519714582G6PDc.1071C>T (p.Arg357=)
c.1074C>T (p.Arg358=)
c.934C>T
c.937C>T
c.923C>T (n.923C>T)
c.884C>T (p.Ala295Val)
c.*531C>T (n.*531C>T)
c.*31C>T (n.*31C>T)
c.*913C>T (n.*913C>T)
c.1209C>T (p.Arg403=)
c.1161C>T (p.Arg387=)
n.292C>T
c.1164C>T (p.Arg388=)
c.977C>T (p.Ala326Val)
Xg.154532783G>CCA519714584G6PDc.1071C>G (p.Arg357=)
c.1074C>G (p.Arg358=)
c.934C>G
c.937C>G
c.923C>G (n.923C>G)
c.884C>G (p.Ala295Gly)
c.*531C>G (n.*531C>G)
c.*31C>G (n.*31C>G)
c.*913C>G (n.*913C>G)
c.1209C>G (p.Arg403=)
c.1161C>G (p.Arg387=)
n.292C>G
c.1164C>G (p.Arg388=)
c.977C>G (p.Ala326Gly)
Xg.154532783G>TCA519714583G6PDc.1071C>A (p.Arg357=)
c.1074C>A (p.Arg358=)
c.934C>A
c.937C>A
c.923C>A (n.923C>A)
c.884C>A (p.Ala295Asp)
c.*531C>A (n.*531C>A)
c.*31C>A (n.*31C>A)
c.*913C>A (n.*913C>A)
c.1209C>A (p.Arg403=)
c.1161C>A (p.Arg387=)
n.292C>A
c.1164C>A (p.Arg388=)
c.977C>A (p.Ala326Asp)
Xg.154532784C>ACA415234291G6PDc.1070G>T (p.Arg357Leu)
c.1073G>T (p.Arg358Leu)
c.933G>T
c.936G>T
c.922G>T (n.922G>T)
c.883G>T (p.Ala295Ser)
c.*530G>T (n.*530G>T)
c.*30G>T (n.*30G>T)
c.*912G>T (n.*912G>T)
c.1208G>T (p.Arg403Leu)
c.1160G>T (p.Arg387Leu)
n.291G>T
c.1163G>T (p.Arg388Leu)
c.976G>T (p.Ala326Ser)
Xg.154532784C=CA2466723482G6PDc.1070G= (p.Arg357=)
c.1073G= (p.Arg358=)
c.933G=
c.936G=
c.922G= (n.922G=)
c.883G= (p.Ala295=)
c.*530G= (n.*530G=)
c.*30G= (n.*30G=)
c.*912G= (n.*912G=)
c.1208G= (p.Arg403=)
c.1160G= (p.Arg387=)
n.291G=
c.1163G= (p.Arg388=)
c.976G= (p.Ala326=)
Xg.154532784C>GCA415234292G6PDc.1070G>C (p.Arg357Pro)
c.1073G>C (p.Arg358Pro)
c.933G>C
c.936G>C
c.922G>C (n.922G>C)
c.883G>C (p.Ala295Pro)
c.*530G>C (n.*530G>C)
c.*30G>C (n.*30G>C)
c.*912G>C (n.*912G>C)
c.1208G>C (p.Arg403Pro)
c.1160G>C (p.Arg387Pro)
n.291G>C
c.1163G>C (p.Arg388Pro)
c.976G>C (p.Ala326Pro)
Xg.154532784C>TCA337316423G6PDc.1070G>A (p.Arg357His)
c.1073G>A (p.Arg358His)
c.933G>A
c.936G>A
c.922G>A (n.922G>A)
c.883G>A (p.Ala295Thr)
c.*530G>A (n.*530G>A)
c.*30G>A (n.*30G>A)
c.*912G>A (n.*912G>A)
c.1208G>A (p.Arg403His)
c.1160G>A (p.Arg387His)
n.291G>A
c.1163G>A (p.Arg388His)
c.976G>A (p.Ala326Thr)
 dbSNP gnomAD v4
Xg.154532785G>ACA337316424G6PDc.1069C>T (p.Arg357Cys)
c.1072C>T (p.Arg358Cys)
c.932C>T
c.935C>T
c.921C>T (n.921C>T)
c.882C>T (p.Cys294=)
c.*529C>T (n.*529C>T)
c.*29C>T (n.*29C>T)
c.*911C>T (n.*911C>T)
c.1207C>T (p.Arg403Cys)
c.1159C>T (p.Arg387Cys)
n.290C>T
c.1162C>T (p.Arg388Cys)
c.975C>T (p.Cys325=)
 dbSNP
Xg.154532785G>CCA415234293G6PDc.1069C>G (p.Arg357Gly)
c.1072C>G (p.Arg358Gly)
c.932C>G
c.935C>G
c.921C>G (n.921C>G)
c.882C>G (p.Cys294Trp)
c.*529C>G (n.*529C>G)
c.*29C>G (n.*29C>G)
c.*911C>G (n.*911C>G)
c.1207C>G (p.Arg403Gly)
c.1159C>G (p.Arg387Gly)
n.290C>G
c.1162C>G (p.Arg388Gly)
c.975C>G (p.Cys325Trp)
Xg.154532785G=CA2466723483G6PDc.1069C= (p.Arg357=)
c.1072C= (p.Arg358=)
c.932C=
c.935C=
c.921C= (n.921C=)
c.882C= (p.Cys294=)
c.*529C= (n.*529C=)
c.*29C= (n.*29C=)
c.*911C= (n.*911C=)
c.1207C= (p.Arg403=)
c.1159C= (p.Arg387=)
n.290C=
c.1162C= (p.Arg388=)
c.975C= (p.Cys325=)
Xg.154532785G>TCA415234294G6PDc.1069C>A (p.Arg357Ser)
c.1072C>A (p.Arg358Ser)
c.932C>A
c.935C>A
c.921C>A (n.921C>A)
c.882C>A (p.Cys294Ter)
c.*529C>A (n.*529C>A)
c.*29C>A (n.*29C>A)
c.*911C>A (n.*911C>A)
c.1207C>A (p.Arg403Ser)
c.1159C>A (p.Arg387Ser)
n.290C>A
c.1162C>A (p.Arg388Ser)
c.975C>A (p.Cys325Ter)
Xg.154532786C>ACA519714588G6PDc.1068G>T (p.Leu356=)
c.1071G>T (p.Leu357=)
c.931G>T
c.934G>T
c.920G>T (n.920G>T)
c.881G>T (p.Cys294Phe)
c.*528G>T (n.*528G>T)
c.*28G>T (n.*28G>T)
c.*910G>T (n.*910G>T)
c.1206G>T (p.Leu402=)
c.1158G>T (p.Leu386=)
n.289G>T
c.1161G>T (p.Leu387=)
c.974G>T (p.Cys325Phe)
Xg.154532786C=CA2466723484G6PDc.1068G= (p.Leu356=)
c.1071G= (p.Leu357=)
c.931G=
c.934G=
c.920G= (n.920G=)
c.881G= (p.Cys294=)
c.*528G= (n.*528G=)
c.*28G= (n.*28G=)
c.*910G= (n.*910G=)
c.1206G= (p.Leu402=)
c.1158G= (p.Leu386=)
n.289G=
c.1161G= (p.Leu387=)
c.974G= (p.Cys325=)
Xg.154532786C>GCA519714589G6PDc.1068G>C (p.Leu356=)
c.1071G>C (p.Leu357=)
c.931G>C
c.934G>C
c.920G>C (n.920G>C)
c.881G>C (p.Cys294Ser)
c.*528G>C (n.*528G>C)
c.*28G>C (n.*28G>C)
c.*910G>C (n.*910G>C)
c.1206G>C (p.Leu402=)
c.1158G>C (p.Leu386=)
n.289G>C
c.1161G>C (p.Leu387=)
c.974G>C (p.Cys325Ser)
Xg.154532786C>TCA10566081G6PDc.1068G>A (p.Leu356=)
c.1071G>A (p.Leu357=)
c.931G>A
c.934G>A
c.920G>A (n.920G>A)
c.881G>A (p.Cys294Tyr)
c.*528G>A (n.*528G>A)
c.*28G>A (n.*28G>A)
c.*910G>A (n.*910G>A)
c.1206G>A (p.Leu402=)
c.1158G>A (p.Leu386=)
n.289G>A
c.1161G>A (p.Leu387=)
c.974G>A (p.Cys325Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532787A>CCA415234295G6PDc.1067T>G (p.Leu356Arg)
c.1070T>G (p.Leu357Arg)
c.930T>G
c.933T>G
c.919T>G (n.919T>G)
c.880T>G (p.Cys294Gly)
c.*527T>G (n.*527T>G)
c.*27T>G (n.*27T>G)
c.*909T>G (n.*909T>G)
c.1205T>G (p.Leu402Arg)
c.1157T>G (p.Leu386Arg)
n.288T>G
c.1160T>G (p.Leu387Arg)
c.973T>G (p.Cys325Gly)
Xg.154532787A>GCA415234296G6PDc.1067T>C (p.Leu356Pro)
c.1070T>C (p.Leu357Pro)
c.930T>C
c.933T>C
c.919T>C (n.919T>C)
c.880T>C (p.Cys294Arg)
c.*527T>C (n.*527T>C)
c.*27T>C (n.*27T>C)
c.*909T>C (n.*909T>C)
c.1205T>C (p.Leu402Pro)
c.1157T>C (p.Leu386Pro)
n.288T>C
c.1160T>C (p.Leu387Pro)
c.973T>C (p.Cys325Arg)
Xg.154532787A>TCA415234297G6PDc.1067T>A (p.Leu356Gln)
c.1070T>A (p.Leu357Gln)
c.930T>A
c.933T>A
c.919T>A (n.919T>A)
c.880T>A (p.Cys294Ser)
c.*527T>A (n.*527T>A)
c.*27T>A (n.*27T>A)
c.*909T>A (n.*909T>A)
c.1205T>A (p.Leu402Gln)
c.1157T>A (p.Leu386Gln)
n.288T>A
c.1160T>A (p.Leu387Gln)
c.973T>A (p.Cys325Ser)
 ClinVar
Xg.154532788G>ACA519714591G6PDc.1066C>T (p.Leu356=)
c.1069C>T (p.Leu357=)
c.929C>T
c.932C>T
c.918C>T (n.918C>T)
c.879C>T (p.Ser293=)
c.*526C>T (n.*526C>T)
c.*26C>T (n.*26C>T)
c.*908C>T (n.*908C>T)
c.1204C>T (p.Leu402=)
c.1156C>T (p.Leu386=)
n.287C>T
c.1159C>T (p.Leu387=)
c.972C>T (p.Ser324=)
Xg.154532788G>CCA415234299G6PDc.1066C>G (p.Leu356Val)
c.1069C>G (p.Leu357Val)
c.929C>G
c.932C>G
c.918C>G (n.918C>G)
c.879C>G (p.Ser293=)
c.*526C>G (n.*526C>G)
c.*26C>G (n.*26C>G)
c.*908C>G (n.*908C>G)
c.1204C>G (p.Leu402Val)
c.1156C>G (p.Leu386Val)
n.287C>G
c.1159C>G (p.Leu387Val)
c.972C>G (p.Ser324=)
Xg.154532788G>TCA415234298G6PDc.1066C>A (p.Leu356Met)
c.1069C>A (p.Leu357Met)
c.929C>A
c.932C>A
c.918C>A (n.918C>A)
c.879C>A (p.Ser293=)
c.*526C>A (n.*526C>A)
c.*26C>A (n.*26C>A)
c.*908C>A (n.*908C>A)
c.1204C>A (p.Leu402Met)
c.1156C>A (p.Leu386Met)
n.287C>A
c.1159C>A (p.Leu387Met)
c.972C>A (p.Ser324=)
Xg.154532789G>ACA519714592G6PDc.1065C>T (p.Ile355=)
c.1068C>T (p.Ile356=)
c.928C>T
c.931C>T
c.917C>T (n.917C>T)
c.878C>T (p.Ser293Phe)
c.*525C>T (n.*525C>T)
c.*25C>T (n.*25C>T)
c.*907C>T (n.*907C>T)
c.1203C>T (p.Ile401=)
c.1155C>T (p.Ile385=)
n.286C>T
c.1158C>T (p.Ile386=)
c.971C>T (p.Ser324Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154532789G>CCA415234300G6PDc.1065C>G (p.Ile355Met)
c.1068C>G (p.Ile356Met)
c.928C>G
c.931C>G
c.917C>G (n.917C>G)
c.878C>G (p.Ser293Cys)
c.*525C>G (n.*525C>G)
c.*25C>G (n.*25C>G)
c.*907C>G (n.*907C>G)
c.1203C>G (p.Ile401Met)
c.1155C>G (p.Ile385Met)
n.286C>G
c.1158C>G (p.Ile386Met)
c.971C>G (p.Ser324Cys)
Xg.154532789G=CA2466723485G6PDc.1065C= (p.Ile355=)
c.1068C= (p.Ile356=)
c.928C=
c.931C=
c.917C= (n.917C=)
c.878C= (p.Ser293=)
c.*525C= (n.*525C=)
c.*25C= (n.*25C=)
c.*907C= (n.*907C=)
c.1203C= (p.Ile401=)
c.1155C= (p.Ile385=)
n.286C=
c.1158C= (p.Ile386=)
c.971C= (p.Ser324=)
Xg.154532789G>TCA519714593G6PDc.1065C>A (p.Ile355=)
c.1068C>A (p.Ile356=)
c.928C>A
c.931C>A
c.917C>A (n.917C>A)
c.878C>A (p.Ser293Tyr)
c.*525C>A (n.*525C>A)
c.*25C>A (n.*25C>A)
c.*907C>A (n.*907C>A)
c.1203C>A (p.Ile401=)
c.1155C>A (p.Ile385=)
n.286C>A
c.1158C>A (p.Ile386=)
c.971C>A (p.Ser324Tyr)
Xg.154532790A>CCA415234301G6PDc.1064T>G (p.Ile355Ser)
c.1067T>G (p.Ile356Ser)
c.927T>G
c.930T>G
c.916T>G (n.916T>G)
c.877T>G (p.Ser293Ala)
c.*524T>G (n.*524T>G)
c.*24T>G (n.*24T>G)
c.*906T>G (n.*906T>G)
c.1202T>G (p.Ile401Ser)
c.1154T>G (p.Ile385Ser)
n.285T>G
c.1157T>G (p.Ile386Ser)
c.970T>G (p.Ser324Ala)
Xg.154532790A>GCA415234302G6PDc.1064T>C (p.Ile355Thr)
c.1067T>C (p.Ile356Thr)
c.927T>C
c.930T>C
c.916T>C (n.916T>C)
c.877T>C (p.Ser293Pro)
c.*524T>C (n.*524T>C)
c.*24T>C (n.*24T>C)
c.*906T>C (n.*906T>C)
c.1202T>C (p.Ile401Thr)
c.1154T>C (p.Ile385Thr)
n.285T>C
c.1157T>C (p.Ile386Thr)
c.970T>C (p.Ser324Pro)
Xg.154532790A>TCA415234303G6PDc.1064T>A (p.Ile355Asn)
c.1067T>A (p.Ile356Asn)
c.927T>A
c.930T>A
c.916T>A (n.916T>A)
c.877T>A (p.Ser293Thr)
c.*524T>A (n.*524T>A)
c.*24T>A (n.*24T>A)
c.*906T>A (n.*906T>A)
c.1202T>A (p.Ile401Asn)
c.1154T>A (p.Ile385Asn)
n.285T>A
c.1157T>A (p.Ile386Asn)
c.970T>A (p.Ser324Thr)
Xg.154532791T>ACA415234304G6PDc.1063A>T (p.Ile355Phe)
c.1066A>T (p.Ile356Phe)
c.926A>T
c.929A>T
c.915A>T (n.915A>T)
c.876A>T (p.Ser292=)
c.*523A>T (n.*523A>T)
c.*23A>T (n.*23A>T)
c.*905A>T (n.*905A>T)
c.1201A>T (p.Ile401Phe)
c.1153A>T (p.Ile385Phe)
n.284A>T
c.1156A>T (p.Ile386Phe)
c.969A>T (p.Ser323=)
Xg.154532791T>CCA415234305G6PDc.1063A>G (p.Ile355Val)
c.1066A>G (p.Ile356Val)
c.926A>G
c.929A>G
c.915A>G (n.915A>G)
c.876A>G (p.Ser292=)
c.*523A>G (n.*523A>G)
c.*23A>G (n.*23A>G)
c.*905A>G (n.*905A>G)
c.1201A>G (p.Ile401Val)
c.1153A>G (p.Ile385Val)
n.284A>G
c.1156A>G (p.Ile386Val)
c.969A>G (p.Ser323=)
 ClinVar
Xg.154532791T>GCA415234306G6PDc.1063A>C (p.Ile355Leu)
c.1066A>C (p.Ile356Leu)
c.926A>C
c.929A>C
c.915A>C (n.915A>C)
c.876A>C (p.Ser292=)
c.*523A>C (n.*523A>C)
c.*23A>C (n.*23A>C)
c.*905A>C (n.*905A>C)
c.1201A>C (p.Ile401Leu)
c.1153A>C (p.Ile385Leu)
n.284A>C
c.1156A>C (p.Ile386Leu)
c.969A>C (p.Ser323=)
Xg.154532792G>ACA519714595G6PDc.1062C>T (p.Phe354=)
c.1065C>T (p.Phe355=)
c.925C>T
c.928C>T
c.914C>T (n.914C>T)
c.875C>T (p.Ser292Leu)
c.*522C>T (n.*522C>T)
c.*22C>T (n.*22C>T)
c.*904C>T (n.*904C>T)
c.1200C>T (p.Phe400=)
c.1152C>T (p.Phe384=)
n.283C>T
c.1155C>T (p.Phe385=)
c.968C>T (p.Ser323Leu)
 dbSNP gnomAD v2
Xg.154532792G>CCA415234307G6PDc.1062C>G (p.Phe354Leu)
c.1065C>G (p.Phe355Leu)
c.925C>G
c.928C>G
c.914C>G (n.914C>G)
c.875C>G (p.Ser292Ter)
c.*522C>G (n.*522C>G)
c.*22C>G (n.*22C>G)
c.*904C>G (n.*904C>G)
c.1200C>G (p.Phe400Leu)
c.1152C>G (p.Phe384Leu)
n.283C>G
c.1155C>G (p.Phe385Leu)
c.968C>G (p.Ser323Ter)
Xg.154532792G=CA2466723486G6PDc.1062C= (p.Phe354=)
c.1065C= (p.Phe355=)
c.925C=
c.928C=
c.914C= (n.914C=)
c.875C= (p.Ser292=)
c.*522C= (n.*522C=)
c.*22C= (n.*22C=)
c.*904C= (n.*904C=)
c.1200C= (p.Phe400=)
c.1152C= (p.Phe384=)
n.283C=
c.1155C= (p.Phe385=)
c.968C= (p.Ser323=)
Xg.154532792G>TCA415234308G6PDc.1062C>A (p.Phe354Leu)
c.1065C>A (p.Phe355Leu)
c.925C>A
c.928C>A
c.914C>A (n.914C>A)
c.875C>A (p.Ser292Ter)
c.*522C>A (n.*522C>A)
c.*22C>A (n.*22C>A)
c.*904C>A (n.*904C>A)
c.1200C>A (p.Phe400Leu)
c.1152C>A (p.Phe384Leu)
n.283C>A
c.1155C>A (p.Phe385Leu)
c.968C>A (p.Ser323Ter)
Xg.154532793A>CCA415234309G6PDc.1061T>G (p.Phe354Cys)
c.1064T>G (p.Phe355Cys)
c.924T>G
c.927T>G
c.913T>G (n.913T>G)
c.874T>G (p.Ser292Ala)
c.*521T>G (n.*521T>G)
c.*21T>G (n.*21T>G)
c.*903T>G (n.*903T>G)
c.1199T>G (p.Phe400Cys)
c.1151T>G (p.Phe384Cys)
n.282T>G
c.1154T>G (p.Phe385Cys)
c.967T>G (p.Ser323Ala)
Xg.154532793A>GCA415234310G6PDc.1061T>C (p.Phe354Ser)
c.1064T>C (p.Phe355Ser)
c.924T>C
c.927T>C
c.913T>C (n.913T>C)
c.874T>C (p.Ser292Pro)
c.*521T>C (n.*521T>C)
c.*21T>C (n.*21T>C)
c.*903T>C (n.*903T>C)
c.1199T>C (p.Phe400Ser)
c.1151T>C (p.Phe384Ser)
n.282T>C
c.1154T>C (p.Phe385Ser)
c.967T>C (p.Ser323Pro)
 gnomAD v4
Xg.154532793A>TCA415234311G6PDc.1061T>A (p.Phe354Tyr)
c.1064T>A (p.Phe355Tyr)
c.924T>A
c.927T>A
c.913T>A (n.913T>A)
c.874T>A (p.Ser292Thr)
c.*521T>A (n.*521T>A)
c.*21T>A (n.*21T>A)
c.*903T>A (n.*903T>A)
c.1199T>A (p.Phe400Tyr)
c.1151T>A (p.Phe384Tyr)
n.282T>A
c.1154T>A (p.Phe385Tyr)
c.967T>A (p.Ser323Thr)
Xg.154532794A>CCA415234312G6PDc.1060T>G (p.Phe354Val)
c.1063T>G (p.Phe355Val)
c.923T>G
c.926T>G
c.912T>G (n.912T>G)
c.873T>G (p.Pro291=)
c.*520T>G (n.*520T>G)
c.*20T>G (n.*20T>G)
c.*902T>G (n.*902T>G)
c.1198T>G (p.Phe400Val)
c.1150T>G (p.Phe384Val)
n.281T>G
c.1153T>G (p.Phe385Val)
c.966T>G (p.Pro322=)
Xg.154532794A>GCA415234314G6PDc.1060T>C (p.Phe354Leu)
c.1063T>C (p.Phe355Leu)
c.923T>C
c.926T>C
c.912T>C (n.912T>C)
c.873T>C (p.Pro291=)
c.*520T>C (n.*520T>C)
c.*20T>C (n.*20T>C)
c.*902T>C (n.*902T>C)
c.1198T>C (p.Phe400Leu)
c.1150T>C (p.Phe384Leu)
n.281T>C
c.1153T>C (p.Phe385Leu)
c.966T>C (p.Pro322=)
Xg.154532794A>TCA415234313G6PDc.1060T>A (p.Phe354Ile)
c.1063T>A (p.Phe355Ile)
c.923T>A
c.926T>A
c.912T>A (n.912T>A)
c.873T>A (p.Pro291=)
c.*520T>A (n.*520T>A)
c.*20T>A (n.*20T>A)
c.*902T>A (n.*902T>A)
c.1198T>A (p.Phe400Ile)
c.1150T>A (p.Phe384Ile)
n.281T>A
c.1153T>A (p.Phe385Ile)
c.966T>A (p.Pro322=)
Xg.154532794_154532795insTCAGTGCACA2824300345G6PDc.1060_1061insGCACTGAT (p.Phe354CysfsTer12)
c.1063_1064insGCACTGAT (p.Phe355CysfsTer12)
c.923_924insGCACTGAT
c.926_927insGCACTGAT
c.912_913insGCACTGAT (n.912_913insGCACTGAT)
c.873_874insGCACTGAT (p.Ser292AlafsTer24)
c.*520_*521insGCACTGAT (n.*520_*521insGCACTGAT)
c.*20_*21insGCACTGAT (n.*20_*21insGCACTGAT)
c.*902_*903insGCACTGAT (n.*902_*903insGCACTGAT)
c.1198_1199insGCACTGAT (p.Phe400CysfsTer12)
c.1150_1151insGCACTGAT (p.Phe384CysfsTer12)
n.281_282insGCACTGAT
c.1153_1154insGCACTGAT (p.Phe385CysfsTer12)
c.966_967insGCACTGAT (p.Ser323AlafsTer24)
Xg.154532795G>ACA10566082G6PDc.1059C>T (p.Pro353=)
c.1062C>T (p.Pro354=)
c.922C>T
c.925C>T
c.911C>T (n.911C>T)
c.872C>T (p.Pro291Leu)
c.*519C>T (n.*519C>T)
c.*19C>T (n.*19C>T)
c.*901C>T (n.*901C>T)
c.1197C>T (p.Pro399=)
c.1149C>T (p.Pro383=)
n.280C>T
c.1152C>T (p.Pro384=)
c.965C>T (p.Pro322Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532795G>CCA519714596G6PDc.1059C>G (p.Pro353=)
c.1062C>G (p.Pro354=)
c.922C>G
c.925C>G
c.911C>G (n.911C>G)
c.872C>G (p.Pro291Arg)
c.*519C>G (n.*519C>G)
c.*19C>G (n.*19C>G)
c.*901C>G (n.*901C>G)
c.1197C>G (p.Pro399=)
c.1149C>G (p.Pro383=)
n.280C>G
c.1152C>G (p.Pro384=)
c.965C>G (p.Pro322Arg)
Xg.154532795G=CA2466723487G6PDc.1059C= (p.Pro353=)
c.1062C= (p.Pro354=)
c.922C=
c.925C=
c.911C= (n.911C=)
c.872C= (p.Pro291=)
c.*519C= (n.*519C=)
c.*19C= (n.*19C=)
c.*901C= (n.*901C=)
c.1197C= (p.Pro399=)
c.1149C= (p.Pro383=)
n.280C=
c.1152C= (p.Pro384=)
c.965C= (p.Pro322=)
Xg.154532795G>TCA519714597G6PDc.1059C>A (p.Pro353=)
c.1062C>A (p.Pro354=)
c.922C>A
c.925C>A
c.911C>A (n.911C>A)
c.872C>A (p.Pro291His)
c.*519C>A (n.*519C>A)
c.*19C>A (n.*19C>A)
c.*901C>A (n.*901C>A)
c.1197C>A (p.Pro399=)
c.1149C>A (p.Pro383=)
n.280C>A
c.1152C>A (p.Pro384=)
c.965C>A (p.Pro322His)
Xg.154532796G>ACA415234315G6PDc.1058C>T (p.Pro353Leu)
c.1061C>T (p.Pro354Leu)
c.921C>T
c.924C>T
c.910C>T (n.910C>T)
c.871C>T (p.Pro291Ser)
c.*518C>T (n.*518C>T)
c.*18C>T (n.*18C>T)
c.*900C>T (n.*900C>T)
c.1196C>T (p.Pro399Leu)
c.1148C>T (p.Pro383Leu)
n.279C>T
c.1151C>T (p.Pro384Leu)
c.964C>T (p.Pro322Ser)
Xg.154532796G>CCA415234316G6PDc.1058C>G (p.Pro353Arg)
c.1061C>G (p.Pro354Arg)
c.921C>G
c.924C>G
c.910C>G (n.910C>G)
c.871C>G (p.Pro291Ala)
c.*518C>G (n.*518C>G)
c.*18C>G (n.*18C>G)
c.*900C>G (n.*900C>G)
c.1196C>G (p.Pro399Arg)
c.1148C>G (p.Pro383Arg)
n.279C>G
c.1151C>G (p.Pro384Arg)
c.964C>G (p.Pro322Ala)
Xg.154532796G>TCA415234317G6PDc.1058C>A (p.Pro353His)
c.1061C>A (p.Pro354His)
c.921C>A
c.924C>A
c.910C>A (n.910C>A)
c.871C>A (p.Pro291Thr)
c.*518C>A (n.*518C>A)
c.*18C>A (n.*18C>A)
c.*900C>A (n.*900C>A)
c.1196C>A (p.Pro399His)
c.1148C>A (p.Pro383His)
n.279C>A
c.1151C>A (p.Pro384His)
c.964C>A (p.Pro322Thr)
Xg.154532796_154532797insATAACTCGGCTGATGCCGCGCATGCTGAATCTGCCGCGCAGGACCGCGCCGGCGATGATCGTACCAGCGACCGCGCGCTTGACA2824300346G6PDc.1057_1058insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro353LeufsTer50)
c.1060_1061insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro354LeufsTer50)
c.920_921insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT
c.923_924insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT
c.909_910insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (n.909_910insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT)
c.870_871insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro291SerfsTer?)
c.*517_*518insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (n.*517_*518insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT)
c.*17_*18insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (n.*17_*18insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT)
c.*899_*900insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (n.*899_*900insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT)
c.1195_1196insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro399LeufsTer50)
c.1147_1148insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro383LeufsTer50)
n.278_279insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT
c.1150_1151insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro384LeufsTer50)
c.963_964insTCAAGCGCGCGGTCGCTGGTACGATCATCGCCGGCGCGGTCCTGCGCGGCAGATTCAGCATGCGCGGCATCAGCCGAGTTAT (p.Pro322SerfsTer?)
Xg.154532797G>ACA120986G6PDc.1057C>T (p.Pro353Ser)
c.1060C>T (p.Pro354Ser)
c.920C>T
c.923C>T
c.909C>T (n.909C>T)
c.870C>T (p.Cys290=)
c.*517C>T (n.*517C>T)
c.*17C>T (n.*17C>T)
c.*899C>T (n.*899C>T)
c.1195C>T (p.Pro399Ser)
c.1147C>T (p.Pro383Ser)
n.278C>T
c.1150C>T (p.Pro384Ser)
c.963C>T (p.Cys321=)
 ClinVar dbSNP gnomAD v4
Xg.154532797G>CCA415234318G6PDc.1057C>G (p.Pro353Ala)
c.1060C>G (p.Pro354Ala)
c.920C>G
c.923C>G
c.909C>G (n.909C>G)
c.870C>G (p.Cys290Trp)
c.*517C>G (n.*517C>G)
c.*17C>G (n.*17C>G)
c.*899C>G (n.*899C>G)
c.1195C>G (p.Pro399Ala)
c.1147C>G (p.Pro383Ala)
n.278C>G
c.1150C>G (p.Pro384Ala)
c.963C>G (p.Cys321Trp)
Xg.154532797G=CA2466723488G6PDc.1057C= (p.Pro353=)
c.1060C= (p.Pro354=)
c.920C=
c.923C=
c.909C= (n.909C=)
c.870C= (p.Cys290=)
c.*517C= (n.*517C=)
c.*17C= (n.*17C=)
c.*899C= (n.*899C=)
c.1195C= (p.Pro399=)
c.1147C= (p.Pro383=)
n.278C=
c.1150C= (p.Pro384=)
c.963C= (p.Cys321=)
Xg.154532797G>TCA415234319G6PDc.1057C>A (p.Pro353Thr)
c.1060C>A (p.Pro354Thr)
c.920C>A
c.923C>A
c.909C>A (n.909C>A)
c.870C>A (p.Cys290Ter)
c.*517C>A (n.*517C>A)
c.*17C>A (n.*17C>A)
c.*899C>A (n.*899C>A)
c.1195C>A (p.Pro399Thr)
c.1147C>A (p.Pro383Thr)
n.278C>A
c.1150C>A (p.Pro384Thr)
c.963C>A (p.Cys321Ter)
Xg.154532798C>ACA519714600G6PDc.1056G>T (p.Val352=)
c.1059G>T (p.Val353=)
c.919G>T
c.922G>T
c.908G>T (n.908G>T)
c.869G>T (p.Cys290Phe)
c.*516G>T (n.*516G>T)
c.*16G>T (n.*16G>T)
c.*898G>T (n.*898G>T)
c.1194G>T (p.Val398=)
c.1146G>T (p.Val382=)
n.277G>T
c.1149G>T (p.Val383=)
c.962G>T (p.Cys321Phe)
 dbSNP gnomAD v4
Xg.154532798C=CA2466723489G6PDc.1056G= (p.Val352=)
c.1059G= (p.Val353=)
c.919G=
c.922G=
c.908G= (n.908G=)
c.869G= (p.Cys290=)
c.*516G= (n.*516G=)
c.*16G= (n.*16G=)
c.*898G= (n.*898G=)
c.1194G= (p.Val398=)
c.1146G= (p.Val382=)
n.277G=
c.1149G= (p.Val383=)
c.962G= (p.Cys321=)
Xg.154532798C>GCA519714602G6PDc.1056G>C (p.Val352=)
c.1059G>C (p.Val353=)
c.919G>C
c.922G>C
c.908G>C (n.908G>C)
c.869G>C (p.Cys290Ser)
c.*516G>C (n.*516G>C)
c.*16G>C (n.*16G>C)
c.*898G>C (n.*898G>C)
c.1194G>C (p.Val398=)
c.1146G>C (p.Val382=)
n.277G>C
c.1149G>C (p.Val383=)
c.962G>C (p.Cys321Ser)
Xg.154532798C>TCA519714603G6PDc.1056G>A (p.Val352=)
c.1059G>A (p.Val353=)
c.919G>A
c.922G>A
c.908G>A (n.908G>A)
c.869G>A (p.Cys290Tyr)
c.*516G>A (n.*516G>A)
c.*16G>A (n.*16G>A)
c.*898G>A (n.*898G>A)
c.1194G>A (p.Val398=)
c.1146G>A (p.Val382=)
n.277G>A
c.1149G>A (p.Val383=)
c.962G>A (p.Cys321Tyr)
 ClinVar
Xg.154532799A>CCA415234320G6PDc.1055T>G (p.Val352Gly)
c.1058T>G (p.Val353Gly)
c.918T>G
c.921T>G
c.907T>G (n.907T>G)
c.868T>G (p.Cys290Gly)
c.*515T>G (n.*515T>G)
c.*15T>G (n.*15T>G)
c.*897T>G (n.*897T>G)
c.1193T>G (p.Val398Gly)
c.1145T>G (p.Val382Gly)
n.276T>G
c.1148T>G (p.Val383Gly)
c.961T>G (p.Cys321Gly)
Xg.154532799A>GCA415234321G6PDc.1055T>C (p.Val352Ala)
c.1058T>C (p.Val353Ala)
c.918T>C
c.921T>C
c.907T>C (n.907T>C)
c.868T>C (p.Cys290Arg)
c.*515T>C (n.*515T>C)
c.*15T>C (n.*15T>C)
c.*897T>C (n.*897T>C)
c.1193T>C (p.Val398Ala)
c.1145T>C (p.Val382Ala)
n.276T>C
c.1148T>C (p.Val383Ala)
c.961T>C (p.Cys321Arg)
Xg.154532799A>TCA415234322G6PDc.1055T>A (p.Val352Glu)
c.1058T>A (p.Val353Glu)
c.918T>A
c.921T>A
c.907T>A (n.907T>A)
c.868T>A (p.Cys290Ser)
c.*515T>A (n.*515T>A)
c.*15T>A (n.*15T>A)
c.*897T>A (n.*897T>A)
c.1193T>A (p.Val398Glu)
c.1145T>A (p.Val382Glu)
n.276T>A
c.1148T>A (p.Val383Glu)
c.961T>A (p.Cys321Ser)
Xg.154532800C>ACA415234325G6PDc.1054G>T (p.Val352Leu)
c.1057G>T (p.Val353Leu)
c.917G>T
c.920G>T
c.906G>T (n.906G>T)
c.867G>T (p.Gly289=)
c.*514G>T (n.*514G>T)
c.*14G>T (n.*14G>T)
c.*896G>T (n.*896G>T)
c.1192G>T (p.Val398Leu)
c.1144G>T (p.Val382Leu)
n.275G>T
c.1147G>T (p.Val383Leu)
c.960G>T (p.Gly320=)
Xg.154532800C>GCA415234324G6PDc.1054G>C (p.Val352Leu)
c.1057G>C (p.Val353Leu)
c.917G>C
c.920G>C
c.906G>C (n.906G>C)
c.867G>C (p.Gly289=)
c.*514G>C (n.*514G>C)
c.*14G>C (n.*14G>C)
c.*896G>C (n.*896G>C)
c.1192G>C (p.Val398Leu)
c.1144G>C (p.Val382Leu)
n.275G>C
c.1147G>C (p.Val383Leu)
c.960G>C (p.Gly320=)
Xg.154532800C>TCA415234323G6PDc.1054G>A (p.Val352Met)
c.1057G>A (p.Val353Met)
c.917G>A
c.920G>A
c.906G>A (n.906G>A)
c.867G>A (p.Gly289=)
c.*514G>A (n.*514G>A)
c.*14G>A (n.*14G>A)
c.*896G>A (n.*896G>A)
c.1192G>A (p.Val398Met)
c.1144G>A (p.Val382Met)
n.275G>A
c.1147G>A (p.Val383Met)
c.960G>A (p.Gly320=)
Xg.154532803dupCA2580101794G6PDc.1054dup
c.1057dup
c.917dup
c.920dup
c.906dup
c.867dup
c.*514dup
c.*14dup
c.*896dup
c.1192dup
c.1144dup
n.275dup
c.1147dup
c.960dup
 ClinVar
Xg.154532801C>ACA519714606G6PDc.1053G>T (p.Gly351=)
c.1056G>T (p.Gly352=)
c.916G>T
c.919G>T
c.905G>T (n.905G>T)
c.866G>T (p.Gly289Val)
c.*513G>T (n.*513G>T)
c.*13G>T (n.*13G>T)
c.*895G>T (n.*895G>T)
c.1191G>T (p.Gly397=)
c.1143G>T (p.Gly381=)
n.274G>T
c.1146G>T (p.Gly382=)
c.959G>T (p.Gly320Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154532801C=CA2466723490G6PDc.1053G= (p.Gly351=)
c.1056G= (p.Gly352=)
c.916G=
c.919G=
c.905G= (n.905G=)
c.866G= (p.Gly289=)
c.*513G= (n.*513G=)
c.*13G= (n.*13G=)
c.*895G= (n.*895G=)
c.1191G= (p.Gly397=)
c.1143G= (p.Gly381=)
n.274G=
c.1146G= (p.Gly382=)
c.959G= (p.Gly320=)
Xg.154532801C>GCA519714608G6PDc.1053G>C (p.Gly351=)
c.1056G>C (p.Gly352=)
c.916G>C
c.919G>C
c.905G>C (n.905G>C)
c.866G>C (p.Gly289Ala)
c.*513G>C (n.*513G>C)
c.*13G>C (n.*13G>C)
c.*895G>C (n.*895G>C)
c.1191G>C (p.Gly397=)
c.1143G>C (p.Gly381=)
n.274G>C
c.1146G>C (p.Gly382=)
c.959G>C (p.Gly320Ala)
Xg.154532801C>TCA10566083G6PDc.1053G>A (p.Gly351=)
c.1056G>A (p.Gly352=)
c.916G>A
c.919G>A
c.905G>A (n.905G>A)
c.866G>A (p.Gly289Glu)
c.*513G>A (n.*513G>A)
c.*13G>A (n.*13G>A)
c.*895G>A (n.*895G>A)
c.1191G>A (p.Gly397=)
c.1143G>A (p.Gly381=)
n.274G>A
c.1146G>A (p.Gly382=)
c.959G>A (p.Gly320Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched