Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.8112078C=CA2246144757ALOXE3c.784+15G= (n.784+15G=)
c.1180+15G= (n.1180+15G=)
c.1252+15G= (n.1252+15G=)
n.1057+15G=
c.781+15G= (n.781+15G=)
17g.8112078C>TCA624722362ALOXE3c.784+15G>A (n.784+15G>A)
c.1180+15G>A (n.1180+15G>A)
c.1252+15G>A (n.1252+15G>A)
n.1057+15G>A
c.781+15G>A (n.781+15G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.8112079C>GCA2635936201ALOXE3c.784+14G>C (n.784+14G>C)
c.1180+14G>C (n.1180+14G>C)
c.1252+14G>C (n.1252+14G>C)
n.1057+14G>C
c.781+14G>C (n.781+14G>C)
 gnomAD v4
17g.8112079C>TCA2635936202ALOXE3c.784+14G>A (n.784+14G>A)
c.1180+14G>A (n.1180+14G>A)
c.1252+14G>A (n.1252+14G>A)
n.1057+14G>A
c.781+14G>A (n.781+14G>A)
 gnomAD v4
17g.8112082G>TCA2635936203ALOXE3c.784+11C>A (n.784+11C>A)
c.1180+11C>A (n.1180+11C>A)
c.1252+11C>A (n.1252+11C>A)
n.1057+11C>A
c.781+11C>A (n.781+11C>A)
 gnomAD v4
17g.8112083C>TCA2808397247ALOXE3c.784+10G>A (n.784+10G>A)
c.1180+10G>A (n.1180+10G>A)
c.1252+10G>A (n.1252+10G>A)
n.1057+10G>A
c.781+10G>A (n.781+10G>A)
17g.8112087G>ACA2576161466ALOXE3c.784+6C>T (n.784+6C>T)
c.1180+6C>T (n.1180+6C>T)
c.1252+6C>T (n.1252+6C>T)
n.1057+6C>T
c.781+6C>T (n.781+6C>T)
17g.8112088C>TCA2635936204ALOXE3c.784+5G>A (n.784+5G>A)
c.1180+5G>A (n.1180+5G>A)
c.1252+5G>A (n.1252+5G>A)
n.1057+5G>A
c.781+5G>A (n.781+5G>A)
 gnomAD v4
17g.8112090C>ACA2635936205ALOXE3c.784+3G>T (n.784+3G>T)
c.1180+3G>T (n.1180+3G>T)
c.1252+3G>T (n.1252+3G>T)
n.1057+3G>T
c.781+3G>T (n.781+3G>T)
 gnomAD v4
17g.8112090C=CA2246144758ALOXE3c.784+3G= (n.784+3G=)
c.1180+3G= (n.1180+3G=)
c.1252+3G= (n.1252+3G=)
n.1057+3G=
c.781+3G= (n.781+3G=)
17g.8112090C>GCA8368300ALOXE3c.784+3G>C (n.784+3G>C)
c.1180+3G>C (n.1180+3G>C)
c.1252+3G>C (n.1252+3G>C)
n.1057+3G>C
c.781+3G>C (n.781+3G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112090C>TCA8368299ALOXE3c.784+3G>A (n.784+3G>A)
c.1180+3G>A (n.1180+3G>A)
c.1252+3G>A (n.1252+3G>A)
n.1057+3G>A
c.781+3G>A (n.781+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112091A=CA2246144759ALOXE3c.784+2T= (n.784+2T=)
c.1180+2T= (n.1180+2T=)
c.1252+2T= (n.1252+2T=)
n.1057+2T=
c.781+2T= (n.781+2T=)
17g.8112091A>CCA397976297ALOXE3c.784+2T>G (n.784+2T>G)
c.1180+2T>G (n.1180+2T>G)
c.1252+2T>G (n.1252+2T>G)
n.1057+2T>G
c.781+2T>G (n.781+2T>G)
17g.8112091A>GCA8368301ALOXE3c.784+2T>C (n.784+2T>C)
c.1180+2T>C (n.1180+2T>C)
c.1252+2T>C (n.1252+2T>C)
n.1057+2T>C
c.781+2T>C (n.781+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112091A>TCA397976300ALOXE3c.784+2T>A (n.784+2T>A)
c.1180+2T>A (n.1180+2T>A)
c.1252+2T>A (n.1252+2T>A)
n.1057+2T>A
c.781+2T>A (n.781+2T>A)
17g.8112092C>ACA397976302ALOXE3c.784+1G>T (n.784+1G>T)
c.1180+1G>T (n.1180+1G>T)
c.1252+1G>T (n.1252+1G>T)
n.1057+1G>T
c.781+1G>T (n.781+1G>T)
17g.8112092C=CA2246144760ALOXE3c.784+1G= (n.784+1G=)
c.1180+1G= (n.1180+1G=)
c.1252+1G= (n.1252+1G=)
n.1057+1G=
c.781+1G= (n.781+1G=)
17g.8112092C>GCA397976306ALOXE3c.784+1G>C (n.784+1G>C)
c.1180+1G>C (n.1180+1G>C)
c.1252+1G>C (n.1252+1G>C)
n.1057+1G>C
c.781+1G>C (n.781+1G>C)
17g.8112092C>TCA8368302ALOXE3c.784+1G>A (n.784+1G>A)
c.1180+1G>A (n.1180+1G>A)
c.1252+1G>A (n.1252+1G>A)
n.1057+1G>A
c.781+1G>A (n.781+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112092_8112093delinsCTCA2246144761ALOXE3c.784_784+1delinsAG
c.1180_1180+1delinsAG
c.1252_1252+1delinsAG
n.1057_1057+1delinsAG
c.781_781+1delinsAG
17g.8112093T>ACA397976314ALOXE3c.784A>T (p.Lys262Ter)
c.1180A>T (p.Lys394Ter)
c.1252A>T (p.Lys418Ter)
n.1057A>T
c.781A>T (p.Lys261Ter)
17g.8112093T>CCA397976317ALOXE3c.784A>G (p.Lys262Glu)
c.1180A>G (p.Lys394Glu)
c.1252A>G (p.Lys418Glu)
n.1057A>G
c.781A>G (p.Lys261Glu)
17g.8112093T>GCA397976312ALOXE3c.784A>C (p.Lys262Gln)
c.1180A>C (p.Lys394Gln)
c.1252A>C (p.Lys418Gln)
n.1057A>C
c.781A>C (p.Lys261Gln)
17g.8112094delCA2246144762ALOXE3c.784del (p.Lys262SerfsTer18)
c.1180del (p.Lys394SerfsTer18)
c.1252del (p.Lys418SerfsTer18)
n.1057del
c.781del (p.Lys261SerfsTer18)
 dbSNP gnomAD v4
17g.8112094T>ACA497751809ALOXE3c.783A>T (p.Thr261=)
c.1179A>T (p.Thr393=)
c.1251A>T (p.Thr417=)
n.1056A>T
c.780A>T (p.Thr260=)
17g.8112094T>CCA497751810ALOXE3c.783A>G (p.Thr261=)
c.1179A>G (p.Thr393=)
c.1251A>G (p.Thr417=)
n.1056A>G
c.780A>G (p.Thr260=)
17g.8112094T>GCA497751811ALOXE3c.783A>C (p.Thr261=)
c.1179A>C (p.Thr393=)
c.1251A>C (p.Thr417=)
n.1056A>C
c.780A>C (p.Thr260=)
17g.8112095G>ACA397976323ALOXE3c.782C>T (p.Thr261Ile)
c.1178C>T (p.Thr393Ile)
c.1250C>T (p.Thr417Ile)
n.1055C>T
c.779C>T (p.Thr260Ile)
17g.8112095G>CCA397976324ALOXE3c.782C>G (p.Thr261Arg)
c.1178C>G (p.Thr393Arg)
c.1250C>G (p.Thr417Arg)
n.1055C>G
c.779C>G (p.Thr260Arg)
17g.8112095G>TCA397976326ALOXE3c.782C>A (p.Thr261Lys)
c.1178C>A (p.Thr393Lys)
c.1250C>A (p.Thr417Lys)
n.1055C>A
c.779C>A (p.Thr260Lys)
17g.8112096T>ACA287526843ALOXE3c.781A>T (p.Thr261Ser)
c.1177A>T (p.Thr393Ser)
c.1249A>T (p.Thr417Ser)
n.1054A>T
c.778A>T (p.Thr260Ser)
 dbSNP
17g.8112096T>CCA397976329ALOXE3c.781A>G (p.Thr261Ala)
c.1177A>G (p.Thr393Ala)
c.1249A>G (p.Thr417Ala)
n.1054A>G
c.778A>G (p.Thr260Ala)
 gnomAD v4
17g.8112096T>GCA397976331ALOXE3c.781A>C (p.Thr261Pro)
c.1177A>C (p.Thr393Pro)
c.1249A>C (p.Thr417Pro)
n.1054A>C
c.778A>C (p.Thr260Pro)
 COSMIC COSMIC
17g.8112096T=CA2246144763ALOXE3c.781A= (p.Thr261=)
c.1177A= (p.Thr393=)
c.1249A= (p.Thr417=)
n.1054A=
c.778A= (p.Thr260=)
17g.8112097delCA2576161467ALOXE3c.780del (p.Thr261GlnfsTer19)
c.1176del (p.Thr393GlnfsTer19)
c.1248del (p.Thr417GlnfsTer19)
n.1053del
c.777del (p.Thr260GlnfsTer19)
17g.8112097C>ACA8368303ALOXE3c.780G>T (p.Thr260=)
c.1176G>T (p.Thr392=)
c.1248G>T (p.Thr416=)
n.1053G>T
c.777G>T (p.Thr259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112097C=CA2246144764ALOXE3c.780G= (p.Thr260=)
c.1176G= (p.Thr392=)
c.1248G= (p.Thr416=)
n.1053G=
c.777G= (p.Thr259=)
17g.8112097C>GCA497751812ALOXE3c.780G>C (p.Thr260=)
c.1176G>C (p.Thr392=)
c.1248G>C (p.Thr416=)
n.1053G>C
c.777G>C (p.Thr259=)
 gnomAD v4
17g.8112097C>TCA8368304ALOXE3c.780G>A (p.Thr260=)
c.1176G>A (p.Thr392=)
c.1248G>A (p.Thr416=)
n.1053G>A
c.777G>A (p.Thr259=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.8112098G>ACA8368305ALOXE3c.779C>T (p.Thr260Met)
c.1175C>T (p.Thr392Met)
c.1247C>T (p.Thr416Met)
n.1052C>T
c.776C>T (p.Thr259Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.8112098G>CCA397976338ALOXE3c.779C>G (p.Thr260Arg)
c.1175C>G (p.Thr392Arg)
c.1247C>G (p.Thr416Arg)
n.1052C>G
c.776C>G (p.Thr259Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.8112098G=CA2246144765ALOXE3c.779C= (p.Thr260=)
c.1175C= (p.Thr392=)
c.1247C= (p.Thr416=)
n.1052C=
c.776C= (p.Thr259=)
17g.8112098G>TCA397976342ALOXE3c.779C>A (p.Thr260Lys)
c.1175C>A (p.Thr392Lys)
c.1247C>A (p.Thr416Lys)
n.1052C>A
c.776C>A (p.Thr259Lys)
17g.8112099T>ACA397976343ALOXE3c.778A>T (p.Thr260Ser)
c.1174A>T (p.Thr392Ser)
c.1246A>T (p.Thr416Ser)
n.1051A>T
c.775A>T (p.Thr259Ser)
17g.8112099T>CCA397976347ALOXE3c.778A>G (p.Thr260Ala)
c.1174A>G (p.Thr392Ala)
c.1246A>G (p.Thr416Ala)
n.1051A>G
c.775A>G (p.Thr259Ala)
17g.8112099T>GCA397976348ALOXE3c.778A>C (p.Thr260Pro)
c.1174A>C (p.Thr392Pro)
c.1246A>C (p.Thr416Pro)
n.1051A>C
c.775A>C (p.Thr259Pro)
17g.8112100G>ACA497751813ALOXE3c.777C>T (p.Phe259=)
c.1173C>T (p.Phe391=)
c.1245C>T (p.Phe415=)
n.1050C>T
c.774C>T (p.Phe258=)
 dbSNP gnomAD v2 gnomAD v4
17g.8112100G>CCA397976350ALOXE3c.777C>G (p.Phe259Leu)
c.1173C>G (p.Phe391Leu)
c.1245C>G (p.Phe415Leu)
n.1050C>G
c.774C>G (p.Phe258Leu)
 dbSNP
17g.8112100G=CA2246144766ALOXE3c.777C= (p.Phe259=)
c.1173C= (p.Phe391=)
c.1245C= (p.Phe415=)
n.1050C=
c.774C= (p.Phe258=)
17g.8112100G>TCA397976352ALOXE3c.777C>A (p.Phe259Leu)
c.1173C>A (p.Phe391Leu)
c.1245C>A (p.Phe415Leu)
n.1050C>A
c.774C>A (p.Phe258Leu)
17g.8112101A>CCA397976356ALOXE3c.776T>G (p.Phe259Cys)
c.1172T>G (p.Phe391Cys)
c.1244T>G (p.Phe415Cys)
n.1049T>G
c.773T>G (p.Phe258Cys)
17g.8112101A>GCA397976358ALOXE3c.776T>C (p.Phe259Ser)
c.1172T>C (p.Phe391Ser)
c.1244T>C (p.Phe415Ser)
n.1049T>C
c.773T>C (p.Phe258Ser)
17g.8112101A>TCA397976360ALOXE3c.776T>A (p.Phe259Tyr)
c.1172T>A (p.Phe391Tyr)
c.1244T>A (p.Phe415Tyr)
n.1049T>A
c.773T>A (p.Phe258Tyr)
17g.8112102A>CCA397976364ALOXE3c.775T>G (p.Phe259Val)
c.1171T>G (p.Phe391Val)
c.1243T>G (p.Phe415Val)
n.1048T>G
c.772T>G (p.Phe258Val)
17g.8112102A>GCA397976368ALOXE3c.775T>C (p.Phe259Leu)
c.1171T>C (p.Phe391Leu)
c.1243T>C (p.Phe415Leu)
n.1048T>C
c.772T>C (p.Phe258Leu)
17g.8112102A>TCA397976370ALOXE3c.775T>A (p.Phe259Ile)
c.1171T>A (p.Phe391Ile)
c.1243T>A (p.Phe415Ile)
n.1048T>A
c.772T>A (p.Phe258Ile)
17g.8112103G>ACA497751814ALOXE3c.774C>T (p.Thr258=)
c.1170C>T (p.Thr390=)
c.1242C>T (p.Thr414=)
n.1047C>T
c.771C>T (p.Thr257=)
 dbSNP
17g.8112103G>CCA497751815ALOXE3c.774C>G (p.Thr258=)
c.1170C>G (p.Thr390=)
c.1242C>G (p.Thr414=)
n.1047C>G
c.771C>G (p.Thr257=)
17g.8112103G=CA2246144767ALOXE3c.774C= (p.Thr258=)
c.1170C= (p.Thr390=)
c.1242C= (p.Thr414=)
n.1047C=
c.771C= (p.Thr257=)
17g.8112103G>TCA497751816ALOXE3c.774C>A (p.Thr258=)
c.1170C>A (p.Thr390=)
c.1242C>A (p.Thr414=)
n.1047C>A
c.771C>A (p.Thr257=)
 gnomAD v4
17g.8112104G>ACA397976373ALOXE3c.773C>T (p.Thr258Ile)
c.1169C>T (p.Thr390Ile)
c.1241C>T (p.Thr414Ile)
n.1046C>T
c.770C>T (p.Thr257Ile)
17g.8112104G>CCA397976374ALOXE3c.773C>G (p.Thr258Ser)
c.1169C>G (p.Thr390Ser)
c.1241C>G (p.Thr414Ser)
n.1046C>G
c.770C>G (p.Thr257Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.8112104G=CA2246144768ALOXE3c.773C= (p.Thr258=)
c.1169C= (p.Thr390=)
c.1241C= (p.Thr414=)
n.1046C=
c.770C= (p.Thr257=)
17g.8112104G>TCA397976375ALOXE3c.773C>A (p.Thr258Asn)
c.1169C>A (p.Thr390Asn)
c.1241C>A (p.Thr414Asn)
n.1046C>A
c.770C>A (p.Thr257Asn)
17g.8112105T>ACA397976376ALOXE3c.772A>T (p.Thr258Ser)
c.1168A>T (p.Thr390Ser)
c.1240A>T (p.Thr414Ser)
n.1045A>T
c.769A>T (p.Thr257Ser)
17g.8112105T>CCA397976379ALOXE3c.772A>G (p.Thr258Ala)
c.1168A>G (p.Thr390Ala)
c.1240A>G (p.Thr414Ala)
n.1045A>G
c.769A>G (p.Thr257Ala)
17g.8112105T>GCA397976380ALOXE3c.772A>C (p.Thr258Pro)
c.1168A>C (p.Thr390Pro)
c.1240A>C (p.Thr414Pro)
n.1045A>C
c.769A>C (p.Thr257Pro)
17g.8112106C>ACA397976385ALOXE3c.771G>T (p.Lys257Asn)
c.1167G>T (p.Lys389Asn)
c.1239G>T (p.Lys413Asn)
n.1044G>T
c.768G>T (p.Lys256Asn)
17g.8112106C=CA2246144769ALOXE3c.771G= (p.Lys257=)
c.1167G= (p.Lys389=)
c.1239G= (p.Lys413=)
n.1044G=
c.768G= (p.Lys256=)
17g.8112106C>GCA397976384ALOXE3c.771G>C (p.Lys257Asn)
c.1167G>C (p.Lys389Asn)
c.1239G>C (p.Lys413Asn)
n.1044G>C
c.768G>C (p.Lys256Asn)
 gnomAD v4
17g.8112106C>TCA8368306ALOXE3c.771G>A (p.Lys257=)
c.1167G>A (p.Lys389=)
c.1239G>A (p.Lys413=)
n.1044G>A
c.768G>A (p.Lys256=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112107T>ACA397976387ALOXE3c.770A>T (p.Lys257Met)
c.1166A>T (p.Lys389Met)
c.1238A>T (p.Lys413Met)
n.1043A>T
c.767A>T (p.Lys256Met)
17g.8112107T>CCA397976391ALOXE3c.770A>G (p.Lys257Arg)
c.1166A>G (p.Lys389Arg)
c.1238A>G (p.Lys413Arg)
n.1043A>G
c.767A>G (p.Lys256Arg)
17g.8112107T>GCA397976389ALOXE3c.770A>C (p.Lys257Thr)
c.1166A>C (p.Lys389Thr)
c.1238A>C (p.Lys413Thr)
n.1043A>C
c.767A>C (p.Lys256Thr)
17g.8112108T>ACA397976393ALOXE3c.769A>T (p.Lys257Ter)
c.1165A>T (p.Lys389Ter)
c.1237A>T (p.Lys413Ter)
n.1042A>T
c.766A>T (p.Lys256Ter)
17g.8112108T>CCA287526866ALOXE3c.769A>G (p.Lys257Glu)
c.1165A>G (p.Lys389Glu)
c.1237A>G (p.Lys413Glu)
n.1042A>G
c.766A>G (p.Lys256Glu)
 dbSNP gnomAD v4
17g.8112108T>GCA397976395ALOXE3c.769A>C (p.Lys257Gln)
c.1165A>C (p.Lys389Gln)
c.1237A>C (p.Lys413Gln)
n.1042A>C
c.766A>C (p.Lys256Gln)
17g.8112108T=CA2246144770ALOXE3c.769A= (p.Lys257=)
c.1165A= (p.Lys389=)
c.1237A= (p.Lys413=)
n.1042A=
c.766A= (p.Lys256=)
17g.8112109A=CA2246144771ALOXE3c.768T= (p.His256=)
c.1164T= (p.His388=)
c.1236T= (p.His412=)
n.1041T=
c.765T= (p.His255=)
17g.8112109A>CCA397976396ALOXE3c.768T>G (p.His256Gln)
c.1164T>G (p.His388Gln)
c.1236T>G (p.His412Gln)
n.1041T>G
c.765T>G (p.His255Gln)
17g.8112109A>GCA8368307ALOXE3c.768T>C (p.His256=)
c.1164T>C (p.His388=)
c.1236T>C (p.His412=)
n.1041T>C
c.765T>C (p.His255=)
 dbSNP ExAC gnomAD v2
17g.8112109A>TCA397976398ALOXE3c.768T>A (p.His256Gln)
c.1164T>A (p.His388Gln)
c.1236T>A (p.His412Gln)
n.1041T>A
c.765T>A (p.His255Gln)
17g.8112110T>ACA397976400ALOXE3c.767A>T (p.His256Leu)
c.1163A>T (p.His388Leu)
c.1235A>T (p.His412Leu)
n.1040A>T
c.764A>T (p.His255Leu)
17g.8112110T>CCA397976401ALOXE3c.767A>G (p.His256Arg)
c.1163A>G (p.His388Arg)
c.1235A>G (p.His412Arg)
n.1040A>G
c.764A>G (p.His255Arg)
17g.8112110T>GCA397976402ALOXE3c.767A>C (p.His256Pro)
c.1163A>C (p.His388Pro)
c.1235A>C (p.His412Pro)
n.1040A>C
c.764A>C (p.His255Pro)
17g.8112111G>ACA397976405ALOXE3c.766C>T (p.His256Tyr)
c.1162C>T (p.His388Tyr)
c.1234C>T (p.His412Tyr)
n.1039C>T
c.763C>T (p.His255Tyr)
17g.8112111G>CCA397976407ALOXE3c.766C>G (p.His256Asp)
c.1162C>G (p.His388Asp)
c.1234C>G (p.His412Asp)
n.1039C>G
c.763C>G (p.His255Asp)
17g.8112111G>TCA397976408ALOXE3c.766C>A (p.His256Asn)
c.1162C>A (p.His388Asn)
c.1234C>A (p.His412Asn)
n.1039C>A
c.763C>A (p.His255Asn)
17g.8112112G>ACA497751817ALOXE3c.765C>T (p.Cys255=)
c.1161C>T (p.Cys387=)
c.1233C>T (p.Cys411=)
n.1038C>T
c.762C>T (p.Cys254=)
17g.8112112G>CCA397976412ALOXE3c.765C>G (p.Cys255Trp)
c.1161C>G (p.Cys387Trp)
c.1233C>G (p.Cys411Trp)
n.1038C>G
c.762C>G (p.Cys254Trp)
17g.8112112G>TCA397976410ALOXE3c.765C>A (p.Cys255Ter)
c.1161C>A (p.Cys387Ter)
c.1233C>A (p.Cys411Ter)
n.1038C>A
c.762C>A (p.Cys254Ter)
 gnomAD v4
17g.8112113C>ACA397976415ALOXE3c.764G>T (p.Cys255Phe)
c.1160G>T (p.Cys387Phe)
c.1232G>T (p.Cys411Phe)
n.1037G>T
c.761G>T (p.Cys254Phe)
17g.8112113C>GCA397976416ALOXE3c.764G>C (p.Cys255Ser)
c.1160G>C (p.Cys387Ser)
c.1232G>C (p.Cys411Ser)
n.1037G>C
c.761G>C (p.Cys254Ser)
17g.8112113C>TCA397976417ALOXE3c.764G>A (p.Cys255Tyr)
c.1160G>A (p.Cys387Tyr)
c.1232G>A (p.Cys411Tyr)
n.1037G>A
c.761G>A (p.Cys254Tyr)
 dbSNP gnomAD v3 gnomAD v4
17g.8112114A>CCA397976421ALOXE3c.763T>G (p.Cys255Gly)
c.1159T>G (p.Cys387Gly)
c.1231T>G (p.Cys411Gly)
n.1036T>G
c.760T>G (p.Cys254Gly)
17g.8112114A>GCA397976422ALOXE3c.763T>C (p.Cys255Arg)
c.1159T>C (p.Cys387Arg)
c.1231T>C (p.Cys411Arg)
n.1036T>C
c.760T>C (p.Cys254Arg)
17g.8112114A>TCA397976424ALOXE3c.763T>A (p.Cys255Ser)
c.1159T>A (p.Cys387Ser)
c.1231T>A (p.Cys411Ser)
n.1036T>A
c.760T>A (p.Cys254Ser)
17g.8112115C>ACA397976426ALOXE3c.762G>T (p.Trp254Cys)
c.1158G>T (p.Trp386Cys)
c.1230G>T (p.Trp410Cys)
n.1035G>T
c.759G>T (p.Trp253Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8112115C=CA2246144772ALOXE3c.762G= (p.Trp254=)
c.1158G= (p.Trp386=)
c.1230G= (p.Trp410=)
n.1035G=
c.759G= (p.Trp253=)
17g.8112115C>GCA397976428ALOXE3c.762G>C (p.Trp254Cys)
c.1158G>C (p.Trp386Cys)
c.1230G>C (p.Trp410Cys)
n.1035G>C
c.759G>C (p.Trp253Cys)
17g.8112115C>TCA8368308ALOXE3c.762G>A (p.Trp254Ter)
c.1158G>A (p.Trp386Ter)
c.1230G>A (p.Trp410Ter)
n.1035G>A
c.759G>A (p.Trp253Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112116C>ACA397976431ALOXE3c.761G>T (p.Trp254Leu)
c.1157G>T (p.Trp386Leu)
c.1229G>T (p.Trp410Leu)
n.1034G>T
c.758G>T (p.Trp253Leu)
17g.8112116C>GCA397976433ALOXE3c.761G>C (p.Trp254Ser)
c.1157G>C (p.Trp386Ser)
c.1229G>C (p.Trp410Ser)
n.1034G>C
c.758G>C (p.Trp253Ser)
17g.8112116C>TCA397976435ALOXE3c.761G>A (p.Trp254Ter)
c.1157G>A (p.Trp386Ter)
c.1229G>A (p.Trp410Ter)
n.1034G>A
c.758G>A (p.Trp253Ter)
17g.8112117A>CCA397976441ALOXE3c.760T>G (p.Trp254Gly)
c.1156T>G (p.Trp386Gly)
c.1228T>G (p.Trp410Gly)
n.1033T>G
c.757T>G (p.Trp253Gly)
17g.8112117A>GCA397976439ALOXE3c.760T>C (p.Trp254Arg)
c.1156T>C (p.Trp386Arg)
c.1228T>C (p.Trp410Arg)
n.1033T>C
c.757T>C (p.Trp253Arg)
17g.8112117A>TCA397976437ALOXE3c.760T>A (p.Trp254Arg)
c.1156T>A (p.Trp386Arg)
c.1228T>A (p.Trp410Arg)
n.1033T>A
c.757T>A (p.Trp253Arg)
17g.8112120_8112122delCA2576161468ALOXE3c.758_760del (p.Phe253del)
c.1154_1156del (p.Phe385del)
c.1226_1228del (p.Phe409del)
n.1031_1033del
c.755_757del (p.Phe252del)
17g.8112118G>ACA497751818ALOXE3c.759C>T (p.Phe253=)
c.1155C>T (p.Phe385=)
c.1227C>T (p.Phe409=)
n.1032C>T
c.756C>T (p.Phe252=)
 gnomAD v4 COSMIC COSMIC
17g.8112118G>CCA397976443ALOXE3c.759C>G (p.Phe253Leu)
c.1155C>G (p.Phe385Leu)
c.1227C>G (p.Phe409Leu)
n.1032C>G
c.756C>G (p.Phe252Leu)
17g.8112118G>TCA397976444ALOXE3c.759C>A (p.Phe253Leu)
c.1155C>A (p.Phe385Leu)
c.1227C>A (p.Phe409Leu)
n.1032C>A
c.756C>A (p.Phe252Leu)
17g.8112118_8112119delinsGACA2246144773ALOXE3c.758_759delinsTC (p.Phe253=)
c.1154_1155delinsTC (p.Phe385=)
c.1226_1227delinsTC (p.Phe409=)
n.1031_1032delinsTC
c.755_756delinsTC (p.Phe252=)
17g.8112119A=CA2246144774ALOXE3c.758T= (p.Phe253=)
c.1154T= (p.Phe385=)
c.1226T= (p.Phe409=)
n.1031T=
c.755T= (p.Phe252=)
17g.8112119A>CCA287526894ALOXE3c.758T>G (p.Phe253Cys)
c.1154T>G (p.Phe385Cys)
c.1226T>G (p.Phe409Cys)
n.1031T>G
c.755T>G (p.Phe252Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.8112119A>GCA397976450ALOXE3c.758T>C (p.Phe253Ser)
c.1154T>C (p.Phe385Ser)
c.1226T>C (p.Phe409Ser)
n.1031T>C
c.755T>C (p.Phe252Ser)
17g.8112119A>TCA397976451ALOXE3c.758T>A (p.Phe253Tyr)
c.1154T>A (p.Phe385Tyr)
c.1226T>A (p.Phe409Tyr)
n.1031T>A
c.755T>A (p.Phe252Tyr)
17g.8112120delCA1139665218ALOXE3c.758del (p.Phe253SerfsTer27)
c.1154del (p.Phe385SerfsTer27)
c.1226del (p.Phe409SerfsTer27)
n.1031del
c.755del (p.Phe252SerfsTer27)
 ClinVar dbSNP
17g.8112120A>CCA397976456ALOXE3c.757T>G (p.Phe253Val)
c.1153T>G (p.Phe385Val)
c.1225T>G (p.Phe409Val)
n.1030T>G
c.754T>G (p.Phe252Val)
17g.8112120A>GCA397976458ALOXE3c.757T>C (p.Phe253Leu)
c.1153T>C (p.Phe385Leu)
c.1225T>C (p.Phe409Leu)
n.1030T>C
c.754T>C (p.Phe252Leu)
17g.8112120A>TCA397976460ALOXE3c.757T>A (p.Phe253Ile)
c.1153T>A (p.Phe385Ile)
c.1225T>A (p.Phe409Ile)
n.1030T>A
c.754T>A (p.Phe252Ile)
17g.8112121G>ACA497751819ALOXE3c.756C>T (p.Ile252=)
c.1152C>T (p.Ile384=)
c.1224C>T (p.Ile408=)
n.1029C>T
c.753C>T (p.Ile251=)
 COSMIC COSMIC
17g.8112121G>CCA397976462ALOXE3c.756C>G (p.Ile252Met)
c.1152C>G (p.Ile384Met)
c.1224C>G (p.Ile408Met)
n.1029C>G
c.753C>G (p.Ile251Met)
17g.8112121G>TCA497751820ALOXE3c.756C>A (p.Ile252=)
c.1152C>A (p.Ile384=)
c.1224C>A (p.Ile408=)
n.1029C>A
c.753C>A (p.Ile251=)
17g.8112122A>CCA397976465ALOXE3c.755T>G (p.Ile252Ser)
c.1151T>G (p.Ile384Ser)
c.1223T>G (p.Ile408Ser)
n.1028T>G
c.752T>G (p.Ile251Ser)
17g.8112122A>GCA397976467ALOXE3c.755T>C (p.Ile252Thr)
c.1151T>C (p.Ile384Thr)
c.1223T>C (p.Ile408Thr)
n.1028T>C
c.752T>C (p.Ile251Thr)
17g.8112122A>TCA397976470ALOXE3c.755T>A (p.Ile252Asn)
c.1151T>A (p.Ile384Asn)
c.1223T>A (p.Ile408Asn)
n.1028T>A
c.752T>A (p.Ile251Asn)
17g.8112123T>ACA397976478ALOXE3c.754A>T (p.Ile252Phe)
c.1150A>T (p.Ile384Phe)
c.1222A>T (p.Ile408Phe)
n.1027A>T
c.751A>T (p.Ile251Phe)
17g.8112123T>CCA397976475ALOXE3c.754A>G (p.Ile252Val)
c.1150A>G (p.Ile384Val)
c.1222A>G (p.Ile408Val)
n.1027A>G
c.751A>G (p.Ile251Val)
 gnomAD v4
17g.8112123T>GCA397976473ALOXE3c.754A>C (p.Ile252Leu)
c.1150A>C (p.Ile384Leu)
c.1222A>C (p.Ile408Leu)
n.1027A>C
c.751A>C (p.Ile251Leu)
17g.8112124G>ACA497751824ALOXE3c.753C>T (p.Asn251=)
c.1149C>T (p.Asn383=)
c.1221C>T (p.Asn407=)
n.1026C>T
c.750C>T (p.Asn250=)
17g.8112124G>CCA397976481ALOXE3c.753C>G (p.Asn251Lys)
c.1149C>G (p.Asn383Lys)
c.1221C>G (p.Asn407Lys)
n.1026C>G
c.750C>G (p.Asn250Lys)
17g.8112124G>TCA397976483ALOXE3c.753C>A (p.Asn251Lys)
c.1149C>A (p.Asn383Lys)
c.1221C>A (p.Asn407Lys)
n.1026C>A
c.750C>A (p.Asn250Lys)
17g.8112125T>ACA397976486ALOXE3c.752A>T (p.Asn251Ile)
c.1148A>T (p.Asn383Ile)
c.1220A>T (p.Asn407Ile)
n.1025A>T
c.749A>T (p.Asn250Ile)
17g.8112125T>CCA397976487ALOXE3c.752A>G (p.Asn251Ser)
c.1148A>G (p.Asn383Ser)
c.1220A>G (p.Asn407Ser)
n.1025A>G
c.749A>G (p.Asn250Ser)
17g.8112125T>GCA397976489ALOXE3c.752A>C (p.Asn251Thr)
c.1148A>C (p.Asn383Thr)
c.1220A>C (p.Asn407Thr)
n.1025A>C
c.749A>C (p.Asn250Thr)
17g.8112126T>ACA397976491ALOXE3c.751A>T (p.Asn251Tyr)
c.1147A>T (p.Asn383Tyr)
c.1219A>T (p.Asn407Tyr)
n.1024A>T
c.748A>T (p.Asn250Tyr)
 gnomAD v4
17g.8112126T>CCA397976494ALOXE3c.751A>G (p.Asn251Asp)
c.1147A>G (p.Asn383Asp)
c.1219A>G (p.Asn407Asp)
n.1024A>G
c.748A>G (p.Asn250Asp)
17g.8112126T>GCA397976497ALOXE3c.751A>C (p.Asn251His)
c.1147A>C (p.Asn383His)
c.1219A>C (p.Asn407His)
n.1024A>C
c.748A>C (p.Asn250His)
17g.8112127C>ACA397976500ALOXE3c.750G>T (p.Gln250His)
c.1146G>T (p.Gln382His)
c.1218G>T (p.Gln406His)
n.1023G>T
c.747G>T (p.Gln249His)
17g.8112127C>GCA397976502ALOXE3c.750G>C (p.Gln250His)
c.1146G>C (p.Gln382His)
c.1218G>C (p.Gln406His)
n.1023G>C
c.747G>C (p.Gln249His)
 gnomAD v4
17g.8112127C>TCA497751836ALOXE3c.750G>A (p.Gln250=)
c.1146G>A (p.Gln382=)
c.1218G>A (p.Gln406=)
n.1023G>A
c.747G>A (p.Gln249=)
 dbSNP gnomAD v4 COSMIC COSMIC
17g.8112128T>ACA397976506ALOXE3c.749A>T (p.Gln250Leu)
c.1145A>T (p.Gln382Leu)
c.1217A>T (p.Gln406Leu)
n.1022A>T
c.746A>T (p.Gln249Leu)
17g.8112128T>CCA397976509ALOXE3c.749A>G (p.Gln250Arg)
c.1145A>G (p.Gln382Arg)
c.1217A>G (p.Gln406Arg)
n.1022A>G
c.746A>G (p.Gln249Arg)
17g.8112128T>GCA397976510ALOXE3c.749A>C (p.Gln250Pro)
c.1145A>C (p.Gln382Pro)
c.1217A>C (p.Gln406Pro)
n.1022A>C
c.746A>C (p.Gln249Pro)
17g.8112129G>ACA397976516ALOXE3c.748C>T (p.Gln250Ter)
c.1144C>T (p.Gln382Ter)
c.1216C>T (p.Gln406Ter)
n.1021C>T
c.745C>T (p.Gln249Ter)
17g.8112129G>CCA397976518ALOXE3c.748C>G (p.Gln250Glu)
c.1144C>G (p.Gln382Glu)
c.1216C>G (p.Gln406Glu)
n.1021C>G
c.745C>G (p.Gln249Glu)
17g.8112129G>TCA397976513ALOXE3c.748C>A (p.Gln250Lys)
c.1144C>A (p.Gln382Lys)
c.1216C>A (p.Gln406Lys)
n.1021C>A
c.745C>A (p.Gln249Lys)
 gnomAD v4
17g.8112130C>ACA397976524ALOXE3c.747G>T (p.Met249Ile)
c.1143G>T (p.Met381Ile)
c.1215G>T (p.Met405Ile)
n.1020G>T
c.744G>T (p.Met248Ile)
17g.8112130C>GCA397976521ALOXE3c.747G>C (p.Met249Ile)
c.1143G>C (p.Met381Ile)
c.1215G>C (p.Met405Ile)
n.1020G>C
c.744G>C (p.Met248Ile)
17g.8112130C>TCA397976527ALOXE3c.747G>A (p.Met249Ile)
c.1143G>A (p.Met381Ile)
c.1215G>A (p.Met405Ile)
n.1020G>A
c.744G>A (p.Met248Ile)
17g.8112131A=CA2246144775ALOXE3c.746T= (p.Met249=)
c.1142T= (p.Met381=)
c.1214T= (p.Met405=)
n.1019T=
c.743T= (p.Met248=)
17g.8112131A>CCA397976529ALOXE3c.746T>G (p.Met249Arg)
c.1142T>G (p.Met381Arg)
c.1214T>G (p.Met405Arg)
n.1019T>G
c.743T>G (p.Met248Arg)
 dbSNP gnomAD v4
17g.8112131A>GCA287526897ALOXE3c.746T>C (p.Met249Thr)
c.1142T>C (p.Met381Thr)
c.1214T>C (p.Met405Thr)
n.1019T>C
c.743T>C (p.Met248Thr)
 dbSNP gnomAD v4
17g.8112131A>TCA397976533ALOXE3c.746T>A (p.Met249Lys)
c.1142T>A (p.Met381Lys)
c.1214T>A (p.Met405Lys)
n.1019T>A
c.743T>A (p.Met248Lys)
17g.8112132T>ACA397976544ALOXE3c.745A>T (p.Met249Leu)
c.1141A>T (p.Met381Leu)
c.1213A>T (p.Met405Leu)
n.1018A>T
c.742A>T (p.Met248Leu)
17g.8112132T>CCA397976549ALOXE3c.745A>G (p.Met249Val)
c.1141A>G (p.Met381Val)
c.1213A>G (p.Met405Val)
n.1018A>G
c.742A>G (p.Met248Val)
17g.8112132T>GCA397976550ALOXE3c.745A>C (p.Met249Leu)
c.1141A>C (p.Met381Leu)
c.1213A>C (p.Met405Leu)
n.1018A>C
c.742A>C (p.Met248Leu)
17g.8112133G>ACA497751856ALOXE3c.744C>T (p.Asp248=)
c.1140C>T (p.Asp380=)
c.1212C>T (p.Asp404=)
n.1017C>T
c.741C>T (p.Asp247=)
17g.8112133G>CCA397976552ALOXE3c.744C>G (p.Asp248Glu)
c.1140C>G (p.Asp380Glu)
c.1212C>G (p.Asp404Glu)
n.1017C>G
c.741C>G (p.Asp247Glu)
17g.8112133G>TCA397976555ALOXE3c.744C>A (p.Asp248Glu)
c.1140C>A (p.Asp380Glu)
c.1212C>A (p.Asp404Glu)
n.1017C>A
c.741C>A (p.Asp247Glu)
17g.8112134T>ACA397976559ALOXE3c.743A>T (p.Asp248Val)
c.1139A>T (p.Asp380Val)
c.1211A>T (p.Asp404Val)
n.1016A>T
c.740A>T (p.Asp247Val)
17g.8112134T>CCA397976561ALOXE3c.743A>G (p.Asp248Gly)
c.1139A>G (p.Asp380Gly)
c.1211A>G (p.Asp404Gly)
n.1016A>G
c.740A>G (p.Asp247Gly)
17g.8112134T>GCA397976562ALOXE3c.743A>C (p.Asp248Ala)
c.1139A>C (p.Asp380Ala)
c.1211A>C (p.Asp404Ala)
n.1016A>C
c.740A>C (p.Asp247Ala)
17g.8112135C>ACA397976566ALOXE3c.742G>T (p.Asp248Tyr)
c.1138G>T (p.Asp380Tyr)
c.1210G>T (p.Asp404Tyr)
n.1015G>T
c.739G>T (p.Asp247Tyr)
17g.8112135C>GCA397976571ALOXE3c.742G>C (p.Asp248His)
c.1138G>C (p.Asp380His)
c.1210G>C (p.Asp404His)
n.1015G>C
c.739G>C (p.Asp247His)
17g.8112135C>TCA397976574ALOXE3c.742G>A (p.Asp248Asn)
c.1138G>A (p.Asp380Asn)
c.1210G>A (p.Asp404Asn)
n.1015G>A
c.739G>A (p.Asp247Asn)
17g.8112136A>CCA397976576ALOXE3c.741T>G (p.Asp247Glu)
c.1137T>G (p.Asp379Glu)
c.1209T>G (p.Asp403Glu)
n.1014T>G
c.738T>G (p.Asp246Glu)
17g.8112136A>GCA497751865ALOXE3c.741T>C (p.Asp247=)
c.1137T>C (p.Asp379=)
c.1209T>C (p.Asp403=)
n.1014T>C
c.738T>C (p.Asp246=)
17g.8112136A>TCA397976578ALOXE3c.741T>A (p.Asp247Glu)
c.1137T>A (p.Asp379Glu)
c.1209T>A (p.Asp403Glu)
n.1014T>A
c.738T>A (p.Asp246Glu)
 gnomAD v4
17g.8112137T>ACA397976588ALOXE3c.740A>T (p.Asp247Val)
c.1136A>T (p.Asp379Val)
c.1208A>T (p.Asp403Val)
n.1013A>T
c.737A>T (p.Asp246Val)
17g.8112137T>CCA397976584ALOXE3c.740A>G (p.Asp247Gly)
c.1136A>G (p.Asp379Gly)
c.1208A>G (p.Asp403Gly)
n.1013A>G
c.737A>G (p.Asp246Gly)
17g.8112137T>GCA397976582ALOXE3c.740A>C (p.Asp247Ala)
c.1136A>C (p.Asp379Ala)
c.1208A>C (p.Asp403Ala)
n.1013A>C
c.737A>C (p.Asp246Ala)
17g.8112137_8112138insGTGCCGAAGATAAGATCAAAGCCATTGATGATTTGCACATCGTTCCCATTGCTGTGTCTTACGAGTGGGAGCCTTGTGACGTGCTCAAGACGCTCGAACTCTATGAATCACAGTTCTCTAAATACACA2808397248ALOXE3c.739_740insTGTATTTAGAGAACTGTGATTCATAGAGTTCGAGCGTCTTGAGCACGTCACAAGGCTCCCACTCGTAAGACACAGCAATGGGAACGATGTGCAAATCATCAATGGCTTTGATCTTATCTTCGGCAC (p.Asp247ValfsTer9)
c.1135_1136insTGTATTTAGAGAACTGTGATTCATAGAGTTCGAGCGTCTTGAGCACGTCACAAGGCTCCCACTCGTAAGACACAGCAATGGGAACGATGTGCAAATCATCAATGGCTTTGATCTTATCTTCGGCAC (p.Asp379ValfsTer9)
c.1207_1208insTGTATTTAGAGAACTGTGATTCATAGAGTTCGAGCGTCTTGAGCACGTCACAAGGCTCCCACTCGTAAGACACAGCAATGGGAACGATGTGCAAATCATCAATGGCTTTGATCTTATCTTCGGCAC (p.Asp403ValfsTer9)
n.1012_1013insTGTATTTAGAGAACTGTGATTCATAGAGTTCGAGCGTCTTGAGCACGTCACAAGGCTCCCACTCGTAAGACACAGCAATGGGAACGATGTGCAAATCATCAATGGCTTTGATCTTATCTTCGGCAC
c.736_737insTGTATTTAGAGAACTGTGATTCATAGAGTTCGAGCGTCTTGAGCACGTCACAAGGCTCCCACTCGTAAGACACAGCAATGGGAACGATGTGCAAATCATCAATGGCTTTGATCTTATCTTCGGCAC (p.Asp246ValfsTer9)
17g.8112138C>ACA397976591ALOXE3c.739G>T (p.Asp247Tyr)
c.1135G>T (p.Asp379Tyr)
c.1207G>T (p.Asp403Tyr)
n.1012G>T
c.736G>T (p.Asp246Tyr)
17g.8112138C=CA2246144776ALOXE3c.739G= (p.Asp247=)
c.1135G= (p.Asp379=)
c.1207G= (p.Asp403=)
n.1012G=
c.736G= (p.Asp246=)
17g.8112138C>GCA397976592ALOXE3c.739G>C (p.Asp247His)
c.1135G>C (p.Asp379His)
c.1207G>C (p.Asp403His)
n.1012G>C
c.736G>C (p.Asp246His)
 dbSNP gnomAD v2 gnomAD v4
17g.8112138C>TCA397976596ALOXE3c.739G>A (p.Asp247Asn)
c.1135G>A (p.Asp379Asn)
c.1207G>A (p.Asp403Asn)
n.1012G>A
c.736G>A (p.Asp246Asn)
17g.8112139C>ACA497751875ALOXE3c.738G>T (p.Leu246=)
c.1134G>T (p.Leu378=)
c.1206G>T (p.Leu402=)
n.1011G>T
c.735G>T (p.Leu245=)
 gnomAD v4
17g.8112139C>GCA497751876ALOXE3c.738G>C (p.Leu246=)
c.1134G>C (p.Leu378=)
c.1206G>C (p.Leu402=)
n.1011G>C
c.735G>C (p.Leu245=)
17g.8112139C>TCA497751878ALOXE3c.738G>A (p.Leu246=)
c.1134G>A (p.Leu378=)
c.1206G>A (p.Leu402=)
n.1011G>A
c.735G>A (p.Leu245=)
17g.8112140A>CCA397976598ALOXE3c.737T>G (p.Leu246Arg)
c.1133T>G (p.Leu378Arg)
c.1205T>G (p.Leu402Arg)
n.1010T>G
c.734T>G (p.Leu245Arg)
17g.8112140A>GCA397976599ALOXE3c.737T>C (p.Leu246Pro)
c.1133T>C (p.Leu378Pro)
c.1205T>C (p.Leu402Pro)
n.1010T>C
c.734T>C (p.Leu245Pro)
17g.8112140A>TCA397976600ALOXE3c.737T>A (p.Leu246Gln)
c.1133T>A (p.Leu378Gln)
c.1205T>A (p.Leu402Gln)
n.1010T>A
c.734T>A (p.Leu245Gln)
17g.8112141G>ACA497751884ALOXE3c.736C>T (p.Leu246=)
c.1132C>T (p.Leu378=)
c.1204C>T (p.Leu402=)
n.1009C>T
c.733C>T (p.Leu245=)
 dbSNP gnomAD v3 gnomAD v4
17g.8112141G>CCA8368309ALOXE3c.736C>G (p.Leu246Val)
c.1132C>G (p.Leu378Val)
c.1204C>G (p.Leu402Val)
n.1009C>G
c.733C>G (p.Leu245Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112141G=CA2246144777ALOXE3c.736C= (p.Leu246=)
c.1132C= (p.Leu378=)
c.1204C= (p.Leu402=)
n.1009C=
c.733C= (p.Leu245=)
17g.8112141G>TCA397976605ALOXE3c.736C>A (p.Leu246Met)
c.1132C>A (p.Leu378Met)
c.1204C>A (p.Leu402Met)
n.1009C>A
c.733C>A (p.Leu245Met)
17g.8112142C>ACA397976608ALOXE3c.735G>T (p.Lys245Asn)
c.1131G>T (p.Lys377Asn)
c.1203G>T (p.Lys401Asn)
n.1008G>T
c.732G>T (p.Lys244Asn)
17g.8112142C>GCA397976610ALOXE3c.735G>C (p.Lys245Asn)
c.1131G>C (p.Lys377Asn)
c.1203G>C (p.Lys401Asn)
n.1008G>C
c.732G>C (p.Lys244Asn)
17g.8112142C>TCA497751890ALOXE3c.735G>A (p.Lys245=)
c.1131G>A (p.Lys377=)
c.1203G>A (p.Lys401=)
n.1008G>A
c.732G>A (p.Lys244=)
17g.8112143T>ACA8368310ALOXE3c.734A>T (p.Lys245Met)
c.1130A>T (p.Lys377Met)
c.1202A>T (p.Lys401Met)
n.1007A>T
c.731A>T (p.Lys244Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112143T>CCA397976615ALOXE3c.734A>G (p.Lys245Arg)
c.1130A>G (p.Lys377Arg)
c.1202A>G (p.Lys401Arg)
n.1007A>G
c.731A>G (p.Lys244Arg)
17g.8112143T>GCA397976617ALOXE3c.734A>C (p.Lys245Thr)
c.1130A>C (p.Lys377Thr)
c.1202A>C (p.Lys401Thr)
n.1007A>C
c.731A>C (p.Lys244Thr)
17g.8112143T=CA2246144778ALOXE3c.734A= (p.Lys245=)
c.1130A= (p.Lys377=)
c.1202A= (p.Lys401=)
n.1007A=
c.731A= (p.Lys244=)
17g.8112144T>ACA397976624ALOXE3c.733A>T (p.Lys245Ter)
c.1129A>T (p.Lys377Ter)
c.1201A>T (p.Lys401Ter)
n.1006A>T
c.730A>T (p.Lys244Ter)
17g.8112144T>CCA397976627ALOXE3c.733A>G (p.Lys245Glu)
c.1129A>G (p.Lys377Glu)
c.1201A>G (p.Lys401Glu)
n.1006A>G
c.730A>G (p.Lys244Glu)
17g.8112144T>GCA397976622ALOXE3c.733A>C (p.Lys245Gln)
c.1129A>C (p.Lys377Gln)
c.1201A>C (p.Lys401Gln)
n.1006A>C
c.730A>C (p.Lys244Gln)
17g.8112145C>ACA397976631ALOXE3c.732G>T (p.Lys244Asn)
c.1128G>T (p.Lys376Asn)
c.1200G>T (p.Lys400Asn)
n.1005G>T
c.729G>T (p.Lys243Asn)
 dbSNP gnomAD v4
17g.8112145C>GCA397976632ALOXE3c.732G>C (p.Lys244Asn)
c.1128G>C (p.Lys376Asn)
c.1200G>C (p.Lys400Asn)
n.1005G>C
c.729G>C (p.Lys243Asn)
17g.8112145C>TCA497751900ALOXE3c.732G>A (p.Lys244=)
c.1128G>A (p.Lys376=)
c.1200G>A (p.Lys400=)
n.1005G>A
c.729G>A (p.Lys243=)
 COSMIC COSMIC
17g.8112146T>ACA397976638ALOXE3c.731A>T (p.Lys244Met)
c.1127A>T (p.Lys376Met)
c.1199A>T (p.Lys400Met)
n.1004A>T
c.728A>T (p.Lys243Met)
17g.8112146T>CCA397976640ALOXE3c.731A>G (p.Lys244Arg)
c.1127A>G (p.Lys376Arg)
c.1199A>G (p.Lys400Arg)
n.1004A>G
c.728A>G (p.Lys243Arg)
17g.8112146T>GCA397976642ALOXE3c.731A>C (p.Lys244Thr)
c.1127A>C (p.Lys376Thr)
c.1199A>C (p.Lys400Thr)
n.1004A>C
c.728A>C (p.Lys243Thr)
17g.8112147T>ACA397976645ALOXE3c.730A>T (p.Lys244Ter)
c.1126A>T (p.Lys376Ter)
c.1198A>T (p.Lys400Ter)
n.1003A>T
c.727A>T (p.Lys243Ter)
17g.8112147T>CCA397976647ALOXE3c.730A>G (p.Lys244Glu)
c.1126A>G (p.Lys376Glu)
c.1198A>G (p.Lys400Glu)
n.1003A>G
c.727A>G (p.Lys243Glu)
17g.8112147T>GCA397976649ALOXE3c.730A>C (p.Lys244Gln)
c.1126A>C (p.Lys376Gln)
c.1198A>C (p.Lys400Gln)
n.1003A>C
c.727A>C (p.Lys243Gln)
17g.8112148C>ACA397976651ALOXE3c.729G>T (p.Trp243Cys)
c.1125G>T (p.Trp375Cys)
c.1197G>T (p.Trp399Cys)
n.1002G>T
c.726G>T (p.Trp242Cys)
17g.8112148C=CA2246144779ALOXE3c.729G= (p.Trp243=)
c.1125G= (p.Trp375=)
c.1197G= (p.Trp399=)
n.1002G=
c.726G= (p.Trp242=)
17g.8112148C>GCA397976654ALOXE3c.729G>C (p.Trp243Cys)
c.1125G>C (p.Trp375Cys)
c.1197G>C (p.Trp399Cys)
n.1002G>C
c.726G>C (p.Trp242Cys)
17g.8112148C>TCA397976655ALOXE3c.729G>A (p.Trp243Ter)
c.1125G>A (p.Trp375Ter)
c.1197G>A (p.Trp399Ter)
n.1002G>A
c.726G>A (p.Trp242Ter)
 dbSNP gnomAD v4
17g.8112149C>ACA397976664ALOXE3c.728G>T (p.Trp243Leu)
c.1124G>T (p.Trp375Leu)
c.1196G>T (p.Trp399Leu)
n.1001G>T
c.725G>T (p.Trp242Leu)
17g.8112149C>GCA397976661ALOXE3c.728G>C (p.Trp243Ser)
c.1124G>C (p.Trp375Ser)
c.1196G>C (p.Trp399Ser)
n.1001G>C
c.725G>C (p.Trp242Ser)
17g.8112149C>TCA397976658ALOXE3c.728G>A (p.Trp243Ter)
c.1124G>A (p.Trp375Ter)
c.1196G>A (p.Trp399Ter)
n.1001G>A
c.725G>A (p.Trp242Ter)
17g.8112150A>CCA397976667ALOXE3c.727T>G (p.Trp243Gly)
c.1123T>G (p.Trp375Gly)
c.1195T>G (p.Trp399Gly)
n.1000T>G
c.724T>G (p.Trp242Gly)
17g.8112150A>GCA397976668ALOXE3c.727T>C (p.Trp243Arg)
c.1123T>C (p.Trp375Arg)
c.1195T>C (p.Trp399Arg)
n.1000T>C
c.724T>C (p.Trp242Arg)
17g.8112150A>TCA397976670ALOXE3c.727T>A (p.Trp243Arg)
c.1123T>A (p.Trp375Arg)
c.1195T>A (p.Trp399Arg)
n.1000T>A
c.724T>A (p.Trp242Arg)
17g.8112151G>ACA497751924ALOXE3c.726C>T (p.Ser242=)
c.1122C>T (p.Ser374=)
c.1194C>T (p.Ser398=)
n.999C>T
c.723C>T (p.Ser241=)
17g.8112151G>CCA497751922ALOXE3c.726C>G (p.Ser242=)
c.1122C>G (p.Ser374=)
c.1194C>G (p.Ser398=)
n.999C>G
c.723C>G (p.Ser241=)
17g.8112151G>TCA497751920ALOXE3c.726C>A (p.Ser242=)
c.1122C>A (p.Ser374=)
c.1194C>A (p.Ser398=)
n.999C>A
c.723C>A (p.Ser241=)
17g.8112152G>ACA397976673ALOXE3c.725C>T (p.Ser242Phe)
c.1121C>T (p.Ser374Phe)
c.1193C>T (p.Ser398Phe)
n.998C>T
c.722C>T (p.Ser241Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8112152G>CCA397976675ALOXE3c.725C>G (p.Ser242Cys)
c.1121C>G (p.Ser374Cys)
c.1193C>G (p.Ser398Cys)
n.998C>G
c.722C>G (p.Ser241Cys)
 gnomAD v4
17g.8112152G=CA2246144780ALOXE3c.725C= (p.Ser242=)
c.1121C= (p.Ser374=)
c.1193C= (p.Ser398=)
n.998C=
c.722C= (p.Ser241=)
17g.8112152G>TCA397976678ALOXE3c.725C>A (p.Ser242Tyr)
c.1121C>A (p.Ser374Tyr)
c.1193C>A (p.Ser398Tyr)
n.998C>A
c.722C>A (p.Ser241Tyr)
17g.8112153A>CCA397976681ALOXE3c.724T>G (p.Ser242Ala)
c.1120T>G (p.Ser374Ala)
c.1192T>G (p.Ser398Ala)
n.997T>G
c.721T>G (p.Ser241Ala)
17g.8112153A>GCA397976682ALOXE3c.724T>C (p.Ser242Pro)
c.1120T>C (p.Ser374Pro)
c.1192T>C (p.Ser398Pro)
n.997T>C
c.721T>C (p.Ser241Pro)
17g.8112153A>TCA397976684ALOXE3c.724T>A (p.Ser242Thr)
c.1120T>A (p.Ser374Thr)
c.1192T>A (p.Ser398Thr)
n.997T>A
c.721T>A (p.Ser241Thr)
17g.8112154G>ACA497751930ALOXE3c.723C>T (p.Gly241=)
c.1119C>T (p.Gly373=)
c.1191C>T (p.Gly397=)
n.996C>T
c.720C>T (p.Gly240=)
17g.8112154G>CCA497751931ALOXE3c.723C>G (p.Gly241=)
c.1119C>G (p.Gly373=)
c.1191C>G (p.Gly397=)
n.996C>G
c.720C>G (p.Gly240=)
17g.8112154G>TCA497751933ALOXE3c.723C>A (p.Gly241=)
c.1119C>A (p.Gly373=)
c.1191C>A (p.Gly397=)
n.996C>A
c.720C>A (p.Gly240=)
17g.8112155C>ACA8368311ALOXE3c.722G>T (p.Gly241Val)
c.1118G>T (p.Gly373Val)
c.1190G>T (p.Gly397Val)
n.995G>T
c.719G>T (p.Gly240Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112155C=CA2246144781ALOXE3c.722G= (p.Gly241=)
c.1118G= (p.Gly373=)
c.1190G= (p.Gly397=)
n.995G=
c.719G= (p.Gly240=)
17g.8112155C>GCA397976689ALOXE3c.722G>C (p.Gly241Ala)
c.1118G>C (p.Gly373Ala)
c.1190G>C (p.Gly397Ala)
n.995G>C
c.719G>C (p.Gly240Ala)
17g.8112155C>TCA397976690ALOXE3c.722G>A (p.Gly241Asp)
c.1118G>A (p.Gly373Asp)
c.1190G>A (p.Gly397Asp)
n.995G>A
c.719G>A (p.Gly240Asp)
 gnomAD v4
17g.8112156C>ACA397976698ALOXE3c.721G>T (p.Gly241Cys)
c.1117G>T (p.Gly373Cys)
c.1189G>T (p.Gly397Cys)
n.994G>T
c.718G>T (p.Gly240Cys)
17g.8112156C>GCA397976696ALOXE3c.721G>C (p.Gly241Arg)
c.1117G>C (p.Gly373Arg)
c.1189G>C (p.Gly397Arg)
n.994G>C
c.718G>C (p.Gly240Arg)
17g.8112156C>TCA397976693ALOXE3c.721G>A (p.Gly241Ser)
c.1117G>A (p.Gly373Ser)
c.1189G>A (p.Gly397Ser)
n.994G>A
c.718G>A (p.Gly240Ser)
 gnomAD v4
17g.8112157C>ACA397976703ALOXE3c.720G>T (p.Lys240Asn)
c.1116G>T (p.Lys372Asn)
c.1188G>T (p.Lys396Asn)
n.993G>T
c.717G>T (p.Lys239Asn)
17g.8112157C=CA2246144782ALOXE3c.720G= (p.Lys240=)
c.1116G= (p.Lys372=)
c.1188G= (p.Lys396=)
n.993G=
c.717G= (p.Lys239=)
17g.8112157C>GCA397976704ALOXE3c.720G>C (p.Lys240Asn)
c.1116G>C (p.Lys372Asn)
c.1188G>C (p.Lys396Asn)
n.993G>C
c.717G>C (p.Lys239Asn)
17g.8112157C>TCA497751943ALOXE3c.720G>A (p.Lys240=)
c.1116G>A (p.Lys372=)
c.1188G>A (p.Lys396=)
n.993G>A
c.717G>A (p.Lys239=)
 dbSNP gnomAD v3 gnomAD v4
17g.8112158T>ACA397976707ALOXE3c.719A>T (p.Lys240Met)
c.1115A>T (p.Lys372Met)
c.1187A>T (p.Lys396Met)
n.992A>T
c.716A>T (p.Lys239Met)
17g.8112158T>CCA397976708ALOXE3c.719A>G (p.Lys240Arg)
c.1115A>G (p.Lys372Arg)
c.1187A>G (p.Lys396Arg)
n.992A>G
c.716A>G (p.Lys239Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.8112158T>GCA397976710ALOXE3c.719A>C (p.Lys240Thr)
c.1115A>C (p.Lys372Thr)
c.1187A>C (p.Lys396Thr)
n.992A>C
c.716A>C (p.Lys239Thr)
17g.8112158T=CA2246144783ALOXE3c.719A= (p.Lys240=)
c.1115A= (p.Lys372=)
c.1187A= (p.Lys396=)
n.992A=
c.716A= (p.Lys239=)
17g.8112159delCA2695224330ALOXE3c.719del (p.Lys240ArgfsTer?)
c.1115del (p.Lys372ArgfsTer?)
c.1187del (p.Lys396ArgfsTer?)
n.992del
c.716del (p.Lys239ArgfsTer?)
17g.8112159T>ACA397976712ALOXE3c.718A>T (p.Lys240Ter)
c.1114A>T (p.Lys372Ter)
c.1186A>T (p.Lys396Ter)
n.991A>T
c.715A>T (p.Lys239Ter)
17g.8112159T>CCA397976715ALOXE3c.718A>G (p.Lys240Glu)
c.1114A>G (p.Lys372Glu)
c.1186A>G (p.Lys396Glu)
n.991A>G
c.715A>G (p.Lys239Glu)
 dbSNP gnomAD v4
17g.8112159T>GCA397976720ALOXE3c.718A>C (p.Lys240Gln)
c.1114A>C (p.Lys372Gln)
c.1186A>C (p.Lys396Gln)
n.991A>C
c.715A>C (p.Lys239Gln)
17g.8112159T=CA2246144784ALOXE3c.718A= (p.Lys240=)
c.1114A= (p.Lys372=)
c.1186A= (p.Lys396=)
n.991A=
c.715A= (p.Lys239=)
17g.8112160G>ACA497751953ALOXE3c.717C>T (p.Arg239=)
c.1113C>T (p.Arg371=)
c.1185C>T (p.Arg395=)
n.990C>T
c.714C>T (p.Arg238=)
17g.8112160G>CCA497751955ALOXE3c.717C>G (p.Arg239=)
c.1113C>G (p.Arg371=)
c.1185C>G (p.Arg395=)
n.990C>G
c.714C>G (p.Arg238=)
17g.8112160G>TCA497751957ALOXE3c.717C>A (p.Arg239=)
c.1113C>A (p.Arg371=)
c.1185C>A (p.Arg395=)
n.990C>A
c.714C>A (p.Arg238=)
17g.8112161C>ACA287526898ALOXE3c.716G>T (p.Arg239Leu)
c.1112G>T (p.Arg371Leu)
c.1184G>T (p.Arg395Leu)
n.989G>T
c.713G>T (p.Arg238Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8112161C=CA2246144785ALOXE3c.716G= (p.Arg239=)
c.1112G= (p.Arg371=)
c.1184G= (p.Arg395=)
n.989G=
c.713G= (p.Arg238=)
17g.8112161C>GCA397976724ALOXE3c.716G>C (p.Arg239Pro)
c.1112G>C (p.Arg371Pro)
c.1184G>C (p.Arg395Pro)
n.989G>C
c.713G>C (p.Arg238Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.8112161C>TCA8368312ALOXE3c.716G>A (p.Arg239His)
c.1112G>A (p.Arg371His)
c.1184G>A (p.Arg395His)
n.989G>A
c.713G>A (p.Arg238His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112162G>ACA287526903ALOXE3c.715C>T (p.Arg239Cys)
c.1111C>T (p.Arg371Cys)
c.1183C>T (p.Arg395Cys)
n.988C>T
c.712C>T (p.Arg238Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
17g.8112162G>CCA397976734ALOXE3c.715C>G (p.Arg239Gly)
c.1111C>G (p.Arg371Gly)
c.1183C>G (p.Arg395Gly)
n.988C>G
c.712C>G (p.Arg238Gly)
17g.8112162G=CA2246144786ALOXE3c.715C= (p.Arg239=)
c.1111C= (p.Arg371=)
c.1183C= (p.Arg395=)
n.988C=
c.712C= (p.Arg238=)
17g.8112162G>TCA397976737ALOXE3c.715C>A (p.Arg239Ser)
c.1111C>A (p.Arg371Ser)
c.1183C>A (p.Arg395Ser)
n.988C>A
c.712C>A (p.Arg238Ser)
17g.8112163A=CA2246144787ALOXE3c.714T= (p.Asp238=)
c.1110T= (p.Asp370=)
c.1182T= (p.Asp394=)
n.987T=
c.711T= (p.Asp237=)
17g.8112163A>CCA397976740ALOXE3c.714T>G (p.Asp238Glu)
c.1110T>G (p.Asp370Glu)
c.1182T>G (p.Asp394Glu)
n.987T>G
c.711T>G (p.Asp237Glu)
17g.8112163A>GCA497751969ALOXE3c.714T>C (p.Asp238=)
c.1110T>C (p.Asp370=)
c.1182T>C (p.Asp394=)
n.987T>C
c.711T>C (p.Asp237=)
 dbSNP
17g.8112163A>TCA397976743ALOXE3c.714T>A (p.Asp238Glu)
c.1110T>A (p.Asp370Glu)
c.1182T>A (p.Asp394Glu)
n.987T>A
c.711T>A (p.Asp237Glu)
17g.8112164T>ACA397976747ALOXE3c.713A>T (p.Asp238Val)
c.1109A>T (p.Asp370Val)
c.1181A>T (p.Asp394Val)
n.986A>T
c.710A>T (p.Asp237Val)
 dbSNP gnomAD v4
17g.8112164T>CCA397976752ALOXE3c.713A>G (p.Asp238Gly)
c.1109A>G (p.Asp370Gly)
c.1181A>G (p.Asp394Gly)
n.986A>G
c.710A>G (p.Asp237Gly)
17g.8112164T>GCA397976749ALOXE3c.713A>C (p.Asp238Ala)
c.1109A>C (p.Asp370Ala)
c.1181A>C (p.Asp394Ala)
n.986A>C
c.710A>C (p.Asp237Ala)
17g.8112164T=CA2246144788ALOXE3c.713A= (p.Asp238=)
c.1109A= (p.Asp370=)
c.1181A= (p.Asp394=)
n.986A=
c.710A= (p.Asp237=)
17g.8112165C>ACA397976756ALOXE3c.712G>T (p.Asp238Tyr)
c.1108G>T (p.Asp370Tyr)
c.1180G>T (p.Asp394Tyr)
n.985G>T
c.709G>T (p.Asp237Tyr)
17g.8112165C>GCA397976758ALOXE3c.712G>C (p.Asp238His)
c.1108G>C (p.Asp370His)
c.1180G>C (p.Asp394His)
n.985G>C
c.709G>C (p.Asp237His)
17g.8112165C>TCA397976761ALOXE3c.712G>A (p.Asp238Asn)
c.1108G>A (p.Asp370Asn)
c.1180G>A (p.Asp394Asn)
n.985G>A
c.709G>A (p.Asp237Asn)
17g.8112166C>ACA397976763ALOXE3c.711G>T (p.Leu237Phe)
c.1107G>T (p.Leu369Phe)
c.1179G>T (p.Leu393Phe)
n.984G>T
c.708G>T (p.Leu236Phe)
17g.8112166C>GCA397976765ALOXE3c.711G>C (p.Leu237Phe)
c.1107G>C (p.Leu369Phe)
c.1179G>C (p.Leu393Phe)
n.984G>C
c.708G>C (p.Leu236Phe)
17g.8112166C>TCA497751977ALOXE3c.711G>A (p.Leu237=)
c.1107G>A (p.Leu369=)
c.1179G>A (p.Leu393=)
n.984G>A
c.708G>A (p.Leu236=)
 gnomAD v4
17g.8112166_8112167delinsCACA2246144789ALOXE3c.710_711delinsTG (p.Leu237=)
c.1106_1107delinsTG (p.Leu369=)
c.1178_1179delinsTG (p.Leu393=)
n.983_984delinsTG
c.707_708delinsTG (p.Leu236=)
17g.8112167A>CCA397976769ALOXE3c.710T>G (p.Leu237Trp)
c.1106T>G (p.Leu369Trp)
c.1178T>G (p.Leu393Trp)
n.983T>G
c.707T>G (p.Leu236Trp)
17g.8112167A>GCA397976771ALOXE3c.710T>C (p.Leu237Ser)
c.1106T>C (p.Leu369Ser)
c.1178T>C (p.Leu393Ser)
n.983T>C
c.707T>C (p.Leu236Ser)
17g.8112167A>TCA397976773ALOXE3c.710T>A (p.Leu237Ter)
c.1106T>A (p.Leu369Ter)
c.1178T>A (p.Leu393Ter)
n.983T>A
c.707T>A (p.Leu236Ter)
17g.8112168delCA287526908ALOXE3c.710del (p.Leu237TrpfsTer?)
c.1106del (p.Leu369TrpfsTer?)
c.1178del (p.Leu393TrpfsTer?)
n.983del
c.707del (p.Leu236TrpfsTer?)
 dbSNP gnomAD v4
17g.8112168A=CA2246144790ALOXE3c.709T= (p.Leu237=)
c.1105T= (p.Leu369=)
c.1177T= (p.Leu393=)
n.982T=
c.706T= (p.Leu236=)
17g.8112168A>CCA397976778ALOXE3c.709T>G (p.Leu237Val)
c.1105T>G (p.Leu369Val)
c.1177T>G (p.Leu393Val)
n.982T>G
c.706T>G (p.Leu236Val)
17g.8112168A>GCA287526914ALOXE3c.709T>C (p.Leu237=)
c.1105T>C (p.Leu369=)
c.1177T>C (p.Leu393=)
n.982T>C
c.706T>C (p.Leu236=)
 dbSNP gnomAD v2 gnomAD v4
17g.8112168A>TCA116202ALOXE3c.709T>A (p.Leu237Met)
c.1105T>A (p.Leu369Met)
c.1177T>A (p.Leu393Met)
n.982T>A
c.706T>A (p.Leu236Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112169C>ACA497751988ALOXE3c.708G>T (p.Leu236=)
c.1104G>T (p.Leu368=)
c.1176G>T (p.Leu392=)
n.981G>T
c.705G>T (p.Leu235=)
 dbSNP gnomAD v2 gnomAD v4
17g.8112169C=CA2246144791ALOXE3c.708G= (p.Leu236=)
c.1104G= (p.Leu368=)
c.1176G= (p.Leu392=)
n.981G=
c.705G= (p.Leu235=)
17g.8112169C>GCA497751990ALOXE3c.708G>C (p.Leu236=)
c.1104G>C (p.Leu368=)
c.1176G>C (p.Leu392=)
n.981G>C
c.705G>C (p.Leu235=)
17g.8112169C>TCA497751991ALOXE3c.708G>A (p.Leu236=)
c.1104G>A (p.Leu368=)
c.1176G>A (p.Leu392=)
n.981G>A
c.705G>A (p.Leu235=)
17g.8112170A=CA2246144792ALOXE3c.707T= (p.Leu236=)
c.1103T= (p.Leu368=)
c.1175T= (p.Leu392=)
n.980T=
c.704T= (p.Leu235=)
17g.8112170A>CCA397976785ALOXE3c.707T>G (p.Leu236Arg)
c.1103T>G (p.Leu368Arg)
c.1175T>G (p.Leu392Arg)
n.980T>G
c.704T>G (p.Leu235Arg)
17g.8112170A>GCA397976782ALOXE3c.707T>C (p.Leu236Pro)
c.1103T>C (p.Leu368Pro)
c.1175T>C (p.Leu392Pro)
n.980T>C
c.704T>C (p.Leu235Pro)
 gnomAD v4
17g.8112170A>TCA397976781ALOXE3c.707T>A (p.Leu236Gln)
c.1103T>A (p.Leu368Gln)
c.1175T>A (p.Leu392Gln)
n.980T>A
c.704T>A (p.Leu235Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.8112171G>ACA497751993ALOXE3c.706C>T (p.Leu236=)
c.1102C>T (p.Leu368=)
c.1174C>T (p.Leu392=)
n.979C>T
c.703C>T (p.Leu235=)
17g.8112171G>CCA397976787ALOXE3c.706C>G (p.Leu236Val)
c.1102C>G (p.Leu368Val)
c.1174C>G (p.Leu392Val)
n.979C>G
c.703C>G (p.Leu235Val)
17g.8112171G>TCA397976789ALOXE3c.706C>A (p.Leu236Met)
c.1102C>A (p.Leu368Met)
c.1174C>A (p.Leu392Met)
n.979C>A
c.703C>A (p.Leu235Met)
17g.8112172C>ACA497751995ALOXE3c.705G>T (p.Gly235=)
c.1101G>T (p.Gly367=)
c.1173G>T (p.Gly391=)
n.978G>T
c.702G>T (p.Gly234=)
17g.8112172C=CA2246144793ALOXE3c.705G= (p.Gly235=)
c.1101G= (p.Gly367=)
c.1173G= (p.Gly391=)
n.978G=
c.702G= (p.Gly234=)
17g.8112172C>GCA497751996ALOXE3c.705G>C (p.Gly235=)
c.1101G>C (p.Gly367=)
c.1173G>C (p.Gly391=)
n.978G>C
c.702G>C (p.Gly234=)
17g.8112172C>TCA497751997ALOXE3c.705G>A (p.Gly235=)
c.1101G>A (p.Gly367=)
c.1173G>A (p.Gly391=)
n.978G>A
c.702G>A (p.Gly234=)
 dbSNP gnomAD v4
17g.8112173C>ACA397976792ALOXE3c.704G>T (p.Gly235Val)
c.1100G>T (p.Gly367Val)
c.1172G>T (p.Gly391Val)
n.977G>T
c.701G>T (p.Gly234Val)
17g.8112173C=CA2246144794ALOXE3c.704G= (p.Gly235=)
c.1100G= (p.Gly367=)
c.1172G= (p.Gly391=)
n.977G=
c.701G= (p.Gly234=)
17g.8112173C>GCA397976793ALOXE3c.704G>C (p.Gly235Ala)
c.1100G>C (p.Gly367Ala)
c.1172G>C (p.Gly391Ala)
n.977G>C
c.701G>C (p.Gly234Ala)
17g.8112173C>TCA397976794ALOXE3c.704G>A (p.Gly235Glu)
c.1100G>A (p.Gly367Glu)
c.1172G>A (p.Gly391Glu)
n.977G>A
c.701G>A (p.Gly234Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.8112174C>ACA397976796ALOXE3c.703G>T (p.Gly235Trp)
c.1099G>T (p.Gly367Trp)
c.1171G>T (p.Gly391Trp)
n.976G>T
c.700G>T (p.Gly234Trp)
17g.8112174C=CA2246144795ALOXE3c.703G= (p.Gly235=)
c.1099G= (p.Gly367=)
c.1171G= (p.Gly391=)
n.976G=
c.700G= (p.Gly234=)
17g.8112174C>GCA8368314ALOXE3c.703G>C (p.Gly235Arg)
c.1099G>C (p.Gly367Arg)
c.1171G>C (p.Gly391Arg)
n.976G>C
c.700G>C (p.Gly234Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112174C>TCA8368313ALOXE3c.703G>A (p.Gly235Arg)
c.1099G>A (p.Gly367Arg)
c.1171G>A (p.Gly391Arg)
n.976G>A
c.700G>A (p.Gly234Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112175T>ACA497752000ALOXE3c.702A>T (p.Arg234=)
c.1098A>T (p.Arg366=)
c.1170A>T (p.Arg390=)
n.975A>T
c.699A>T (p.Arg233=)
17g.8112175T>CCA497752001ALOXE3c.702A>G (p.Arg234=)
c.1098A>G (p.Arg366=)
c.1170A>G (p.Arg390=)
n.975A>G
c.699A>G (p.Arg233=)
17g.8112175T>GCA497752002ALOXE3c.702A>C (p.Arg234=)
c.1098A>C (p.Arg366=)
c.1170A>C (p.Arg390=)
n.975A>C
c.699A>C (p.Arg233=)
17g.8112176C>ACA397976800ALOXE3c.701G>T (p.Arg234Leu)
c.1097G>T (p.Arg366Leu)
c.1169G>T (p.Arg390Leu)
n.974G>T
c.698G>T (p.Arg233Leu)
17g.8112176C=CA2246144796ALOXE3c.701G= (p.Arg234=)
c.1097G= (p.Arg366=)
c.1169G= (p.Arg390=)
n.974G=
c.698G= (p.Arg233=)
17g.8112176C>GCA397976802ALOXE3c.701G>C (p.Arg234Pro)
c.1097G>C (p.Arg366Pro)
c.1169G>C (p.Arg390Pro)
n.974G>C
c.698G>C (p.Arg233Pro)
 gnomAD v4
17g.8112176C>TCA8368315ALOXE3c.701G>A (p.Arg234Gln)
c.1097G>A (p.Arg366Gln)
c.1169G>A (p.Arg390Gln)
n.974G>A
c.698G>A (p.Arg233Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112177G>ACA116197ALOXE3c.700C>T (p.Arg234Ter)
c.1096C>T (p.Arg366Ter)
c.1168C>T (p.Arg390Ter)
n.973C>T
c.697C>T (p.Arg233Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112177G>CCA397976806ALOXE3c.700C>G (p.Arg234Gly)
c.1096C>G (p.Arg366Gly)
c.1168C>G (p.Arg390Gly)
n.973C>G
c.697C>G (p.Arg233Gly)
17g.8112177G=CA2246144797ALOXE3c.700C= (p.Arg234=)
c.1096C= (p.Arg366=)
c.1168C= (p.Arg390=)
n.973C=
c.697C= (p.Arg233=)
17g.8112177G>TCA497752004ALOXE3c.700C>A (p.Arg234=)
c.1096C>A (p.Arg366=)
c.1168C>A (p.Arg390=)
n.973C>A
c.697C>A (p.Arg233=)
17g.8112178A>CCA497752005ALOXE3c.699T>G (p.Leu233=)
c.1095T>G (p.Leu365=)
c.1167T>G (p.Leu389=)
n.972T>G
c.696T>G (p.Leu232=)
17g.8112178A>GCA497752006ALOXE3c.699T>C (p.Leu233=)
c.1095T>C (p.Leu365=)
c.1167T>C (p.Leu389=)
n.972T>C
c.696T>C (p.Leu232=)
17g.8112178A>TCA497752008ALOXE3c.699T>A (p.Leu233=)
c.1095T>A (p.Leu365=)
c.1167T>A (p.Leu389=)
n.972T>A
c.696T>A (p.Leu232=)

Number of alleles fetched