Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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=)
17g.8112179A=CA2246144798ALOXE3c.698T= (p.Leu233=)
c.1094T= (p.Leu365=)
c.1166T= (p.Leu389=)
n.971T=
c.695T= (p.Leu232=)
17g.8112179A>CCA397976811ALOXE3c.698T>G (p.Leu233Arg)
c.1094T>G (p.Leu365Arg)
c.1166T>G (p.Leu389Arg)
n.971T>G
c.695T>G (p.Leu232Arg)
17g.8112179A>GCA397976808ALOXE3c.698T>C (p.Leu233Pro)
c.1094T>C (p.Leu365Pro)
c.1166T>C (p.Leu389Pro)
n.971T>C
c.695T>C (p.Leu232Pro)
dbSNP
17g.8112179A>TCA397976809ALOXE3c.698T>A (p.Leu233His)
c.1094T>A (p.Leu365His)
c.1166T>A (p.Leu389His)
n.971T>A
c.695T>A (p.Leu232His)
17g.8112180G>ACA397976812ALOXE3c.697C>T (p.Leu233Phe)
c.1093C>T (p.Leu365Phe)
c.1165C>T (p.Leu389Phe)
n.970C>T
c.694C>T (p.Leu232Phe)
17g.8112180G>CCA397976813ALOXE3c.697C>G (p.Leu233Val)
c.1093C>G (p.Leu365Val)
c.1165C>G (p.Leu389Val)
n.970C>G
c.694C>G (p.Leu232Val)
17g.8112180G>TCA397976815ALOXE3c.697C>A (p.Leu233Ile)
c.1093C>A (p.Leu365Ile)
c.1165C>A (p.Leu389Ile)
n.970C>A
c.694C>A (p.Leu232Ile)
17g.8112181C>ACA397976818ALOXE3c.696G>T (p.Lys232Asn)
c.1092G>T (p.Lys364Asn)
c.1164G>T (p.Lys388Asn)
n.969G>T
c.693G>T (p.Lys231Asn)
17g.8112181C=CA2246144799ALOXE3c.696G= (p.Lys232=)
c.1092G= (p.Lys364=)
c.1164G= (p.Lys388=)
n.969G=
c.693G= (p.Lys231=)
17g.8112181C>GCA397976820ALOXE3c.696G>C (p.Lys232Asn)
c.1092G>C (p.Lys364Asn)
c.1164G>C (p.Lys388Asn)
n.969G>C
c.693G>C (p.Lys231Asn)
17g.8112181C>TCA8368316ALOXE3c.696G>A (p.Lys232=)
c.1092G>A (p.Lys364=)
c.1164G>A (p.Lys388=)
n.969G>A
c.693G>A (p.Lys231=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112182T>ACA397976825ALOXE3c.695A>T (p.Lys232Met)
c.1091A>T (p.Lys364Met)
c.1163A>T (p.Lys388Met)
n.968A>T
c.692A>T (p.Lys231Met)
17g.8112182T>CCA397976827ALOXE3c.695A>G (p.Lys232Arg)
c.1091A>G (p.Lys364Arg)
c.1163A>G (p.Lys388Arg)
n.968A>G
c.692A>G (p.Lys231Arg)
dbSNP
17g.8112182T>GCA397976830ALOXE3c.695A>C (p.Lys232Thr)
c.1091A>C (p.Lys364Thr)
c.1163A>C (p.Lys388Thr)
n.968A>C
c.692A>C (p.Lys231Thr)
17g.8112182T=CA2246144800ALOXE3c.695A= (p.Lys232=)
c.1091A= (p.Lys364=)
c.1163A= (p.Lys388=)
n.968A=
c.692A= (p.Lys231=)
17g.8112183T>ACA397976834ALOXE3c.694A>T (p.Lys232Ter)
c.1090A>T (p.Lys364Ter)
c.1162A>T (p.Lys388Ter)
n.967A>T
c.691A>T (p.Lys231Ter)
dbSNP gnomAD v2 gnomAD v4
17g.8112183T>CCA397976837ALOXE3c.694A>G (p.Lys232Glu)
c.1090A>G (p.Lys364Glu)
c.1162A>G (p.Lys388Glu)
n.967A>G
c.691A>G (p.Lys231Glu)
17g.8112183T>GCA397976839ALOXE3c.694A>C (p.Lys232Gln)
c.1090A>C (p.Lys364Gln)
c.1162A>C (p.Lys388Gln)
n.967A>C
c.691A>C (p.Lys231Gln)
gnomAD v4
17g.8112183T=CA2246144801ALOXE3c.694A= (p.Lys232=)
c.1090A= (p.Lys364=)
c.1162A= (p.Lys388=)
n.967A=
c.691A= (p.Lys231=)
17g.8112184C>ACA397976849ALOXE3c.693G>T (p.Met231Ile)
c.1089G>T (p.Met363Ile)
c.1161G>T (p.Met387Ile)
n.966G>T
c.690G>T (p.Met230Ile)
17g.8112184C>GCA397976846ALOXE3c.693G>C (p.Met231Ile)
c.1089G>C (p.Met363Ile)
c.1161G>C (p.Met387Ile)
n.966G>C
c.690G>C (p.Met230Ile)
17g.8112184C>TCA397976842ALOXE3c.693G>A (p.Met231Ile)
c.1089G>A (p.Met363Ile)
c.1161G>A (p.Met387Ile)
n.966G>A
c.690G>A (p.Met230Ile)
17g.8112185A=CA2246144802ALOXE3c.692T= (p.Met231=)
c.1088T= (p.Met363=)
c.1160T= (p.Met387=)
n.965T=
c.689T= (p.Met230=)
17g.8112185A>CCA397976852ALOXE3c.692T>G (p.Met231Arg)
c.1088T>G (p.Met363Arg)
c.1160T>G (p.Met387Arg)
n.965T>G
c.689T>G (p.Met230Arg)
17g.8112185A>GCA397976856ALOXE3c.692T>C (p.Met231Thr)
c.1088T>C (p.Met363Thr)
c.1160T>C (p.Met387Thr)
n.965T>C
c.689T>C (p.Met230Thr)
17g.8112185A>TCA397976854ALOXE3c.692T>A (p.Met231Lys)
c.1088T>A (p.Met363Lys)
c.1160T>A (p.Met387Lys)
n.965T>A
c.689T>A (p.Met230Lys)
17g.8112186T>ACA397976860ALOXE3c.691A>T (p.Met231Leu)
c.1087A>T (p.Met363Leu)
c.1159A>T (p.Met387Leu)
n.964A>T
c.688A>T (p.Met230Leu)
17g.8112186T>CCA397976864ALOXE3c.691A>G (p.Met231Val)
c.1087A>G (p.Met363Val)
c.1159A>G (p.Met387Val)
n.964A>G
c.688A>G (p.Met230Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8112186T>GCA397976861ALOXE3c.691A>C (p.Met231Leu)
c.1087A>C (p.Met363Leu)
c.1159A>C (p.Met387Leu)
n.964A>C
c.688A>C (p.Met230Leu)
17g.8112186T=CA2246144803ALOXE3c.691A= (p.Met231=)
c.1087A= (p.Met363=)
c.1159A= (p.Met387=)
n.964A=
c.688A= (p.Met230=)
17g.8112187dupCA624722387ALOXE3c.691dup (p.Met231AsnfsTer18)
c.1087dup (p.Met363AsnfsTer18)
c.1159dup (p.Met387AsnfsTer18)
n.964dup
c.688dup (p.Met230AsnfsTer18)
dbSNP gnomAD v2 gnomAD v4
17g.8112187T>ACA497752017ALOXE3c.690A>T (p.Gly230=)
c.1086A>T (p.Gly362=)
c.1158A>T (p.Gly386=)
n.963A>T
c.687A>T (p.Gly229=)
17g.8112187T>CCA497752019ALOXE3c.690A>G (p.Gly230=)
c.1086A>G (p.Gly362=)
c.1158A>G (p.Gly386=)
n.963A>G
c.687A>G (p.Gly229=)
17g.8112187T>GCA497752018ALOXE3c.690A>C (p.Gly230=)
c.1086A>C (p.Gly362=)
c.1158A>C (p.Gly386=)
n.963A>C
c.687A>C (p.Gly229=)
17g.8112188C>ACA397976867ALOXE3c.689G>T (p.Gly230Val)
c.1085G>T (p.Gly362Val)
c.1157G>T (p.Gly386Val)
n.962G>T
c.686G>T (p.Gly229Val)
17g.8112188C>GCA397976869ALOXE3c.689G>C (p.Gly230Ala)
c.1085G>C (p.Gly362Ala)
c.1157G>C (p.Gly386Ala)
n.962G>C
c.686G>C (p.Gly229Ala)
gnomAD v4
17g.8112188C>TCA397976872ALOXE3c.689G>A (p.Gly230Glu)
c.1085G>A (p.Gly362Glu)
c.1157G>A (p.Gly386Glu)
n.962G>A
c.686G>A (p.Gly229Glu)
COSMIC COSMIC
17g.8112189_8112190delCA2808397249ALOXE3c.688_689del (p.Gly230AsnfsTer18)
c.1084_1085del (p.Gly362AsnfsTer18)
c.1156_1157del (p.Gly386AsnfsTer18)
n.961_962del
c.685_686del (p.Gly229AsnfsTer18)
17g.8112189C>ACA397976876ALOXE3c.688G>T (p.Gly230Ter)
c.1084G>T (p.Gly362Ter)
c.1156G>T (p.Gly386Ter)
n.961G>T
c.685G>T (p.Gly229Ter)
17g.8112189C>GCA397976883ALOXE3c.688G>C (p.Gly230Arg)
c.1084G>C (p.Gly362Arg)
c.1156G>C (p.Gly386Arg)
n.961G>C
c.685G>C (p.Gly229Arg)
17g.8112189C>TCA397976885ALOXE3c.688G>A (p.Gly230Arg)
c.1084G>A (p.Gly362Arg)
c.1156G>A (p.Gly386Arg)
n.961G>A
c.685G>A (p.Gly229Arg)
17g.8112190C>ACA397976887ALOXE3c.687G>T (p.Leu229Phe)
c.1083G>T (p.Leu361Phe)
c.1155G>T (p.Leu385Phe)
n.960G>T
c.684G>T (p.Leu228Phe)
17g.8112190C>GCA397976889ALOXE3c.687G>C (p.Leu229Phe)
c.1083G>C (p.Leu361Phe)
c.1155G>C (p.Leu385Phe)
n.960G>C
c.684G>C (p.Leu228Phe)
gnomAD v4
17g.8112190C>TCA497752022ALOXE3c.687G>A (p.Leu229=)
c.1083G>A (p.Leu361=)
c.1155G>A (p.Leu385=)
n.960G>A
c.684G>A (p.Leu228=)
17g.8112191A=CA2246144804ALOXE3c.686T= (p.Leu229=)
c.1082T= (p.Leu361=)
c.1154T= (p.Leu385=)
n.959T=
c.683T= (p.Leu228=)
17g.8112191A>CCA397976898ALOXE3c.686T>G (p.Leu229Trp)
c.1082T>G (p.Leu361Trp)
c.1154T>G (p.Leu385Trp)
n.959T>G
c.683T>G (p.Leu228Trp)
17g.8112191A>GCA8368317ALOXE3c.686T>C (p.Leu229Ser)
c.1082T>C (p.Leu361Ser)
c.1154T>C (p.Leu385Ser)
n.959T>C
c.683T>C (p.Leu228Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112191A>TCA397976902ALOXE3c.686T>A (p.Leu229Ter)
c.1082T>A (p.Leu361Ter)
c.1154T>A (p.Leu385Ter)
n.959T>A
c.683T>A (p.Leu228Ter)
17g.8112192A>CCA397976908ALOXE3c.685T>G (p.Leu229Val)
c.1081T>G (p.Leu361Val)
c.1153T>G (p.Leu385Val)
n.958T>G
c.682T>G (p.Leu228Val)
17g.8112192A>GCA497752023ALOXE3c.685T>C (p.Leu229=)
c.1081T>C (p.Leu361=)
c.1153T>C (p.Leu385=)
n.958T>C
c.682T>C (p.Leu228=)
17g.8112192A>TCA397976910ALOXE3c.685T>A (p.Leu229Met)
c.1081T>A (p.Leu361Met)
c.1153T>A (p.Leu385Met)
n.958T>A
c.682T>A (p.Leu228Met)
17g.8112193G>ACA497752024ALOXE3c.684C>T (p.Ser228=)
c.1080C>T (p.Ser360=)
c.1152C>T (p.Ser384=)
n.957C>T
c.681C>T (p.Ser227=)
dbSNP
17g.8112193G>CCA497752025ALOXE3c.684C>G (p.Ser228=)
c.1080C>G (p.Ser360=)
c.1152C>G (p.Ser384=)
n.957C>G
c.681C>G (p.Ser227=)
17g.8112193G=CA2246144805ALOXE3c.684C= (p.Ser228=)
c.1080C= (p.Ser360=)
c.1152C= (p.Ser384=)
n.957C=
c.681C= (p.Ser227=)
17g.8112193G>TCA497752028ALOXE3c.684C>A (p.Ser228=)
c.1080C>A (p.Ser360=)
c.1152C>A (p.Ser384=)
n.957C>A
c.681C>A (p.Ser227=)
17g.8112194G>ACA397976914ALOXE3c.683C>T (p.Ser228Phe)
c.1079C>T (p.Ser360Phe)
c.1151C>T (p.Ser384Phe)
n.956C>T
c.680C>T (p.Ser227Phe)
dbSNP gnomAD v3 gnomAD v4
17g.8112194G>CCA397976919ALOXE3c.683C>G (p.Ser228Cys)
c.1079C>G (p.Ser360Cys)
c.1151C>G (p.Ser384Cys)
n.956C>G
c.680C>G (p.Ser227Cys)
17g.8112194G=CA2246144806ALOXE3c.683C= (p.Ser228=)
c.1079C= (p.Ser360=)
c.1151C= (p.Ser384=)
n.956C=
c.680C= (p.Ser227=)
17g.8112194G>TCA397976916ALOXE3c.683C>A (p.Ser228Tyr)
c.1079C>A (p.Ser360Tyr)
c.1151C>A (p.Ser384Tyr)
n.956C>A
c.680C>A (p.Ser227Tyr)
17g.8112195A>CCA397976922ALOXE3c.682T>G (p.Ser228Ala)
c.1078T>G (p.Ser360Ala)
c.1150T>G (p.Ser384Ala)
n.955T>G
c.679T>G (p.Ser227Ala)
17g.8112195A>GCA397976924ALOXE3c.682T>C (p.Ser228Pro)
c.1078T>C (p.Ser360Pro)
c.1150T>C (p.Ser384Pro)
n.955T>C
c.679T>C (p.Ser227Pro)
17g.8112195A>TCA397976926ALOXE3c.682T>A (p.Ser228Thr)
c.1078T>A (p.Ser360Thr)
c.1150T>A (p.Ser384Thr)
n.955T>A
c.679T>A (p.Ser227Thr)
17g.8112196C>ACA497752035ALOXE3c.681G>T (p.Ala227=)
c.1077G>T (p.Ala359=)
c.1149G>T (p.Ala383=)
n.954G>T
c.678G>T (p.Ala226=)
17g.8112196C>GCA497752036ALOXE3c.681G>C (p.Ala227=)
c.1077G>C (p.Ala359=)
c.1149G>C (p.Ala383=)
n.954G>C
c.678G>C (p.Ala226=)
17g.8112196C>TCA497752037ALOXE3c.681G>A (p.Ala227=)
c.1077G>A (p.Ala359=)
c.1149G>A (p.Ala383=)
n.954G>A
c.678G>A (p.Ala226=)
dbSNP gnomAD v3 gnomAD v4
17g.8112197C>ACA397976928ALOXE3c.681-1G>T (n.681-1G>T)
c.1077-1G>T (n.1077-1G>T)
c.1149-1G>T (n.1149-1G>T)
n.954-1G>T
c.678-1G>T (n.678-1G>T)
17g.8112197C=CA2246144807ALOXE3c.681-1G= (n.681-1G=)
c.1077-1G= (n.1077-1G=)
c.1149-1G= (n.1149-1G=)
n.954-1G=
c.678-1G= (n.678-1G=)
17g.8112197C>GCA8368318ALOXE3c.681-1G>C (n.681-1G>C)
c.1077-1G>C (n.1077-1G>C)
c.1149-1G>C (n.1149-1G>C)
n.954-1G>C
c.678-1G>C (n.678-1G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112197C>TCA397976932ALOXE3c.681-1G>A (n.681-1G>A)
c.1077-1G>A (n.1077-1G>A)
c.1149-1G>A (n.1149-1G>A)
n.954-1G>A
c.678-1G>A (n.678-1G>A)
17g.8112198T>ACA397976936ALOXE3c.681-2A>T (n.681-2A>T)
c.1077-2A>T (n.1077-2A>T)
c.1149-2A>T (n.1149-2A>T)
n.954-2A>T
c.678-2A>T (n.678-2A>T)
17g.8112198T>CCA397976937ALOXE3c.681-2A>G (n.681-2A>G)
c.1077-2A>G (n.1077-2A>G)
c.1149-2A>G (n.1149-2A>G)
n.954-2A>G
c.678-2A>G (n.678-2A>G)
17g.8112198T>GCA397976942ALOXE3c.681-2A>C (n.681-2A>C)
c.1077-2A>C (n.1077-2A>C)
c.1149-2A>C (n.1149-2A>C)
n.954-2A>C
c.678-2A>C (n.678-2A>C)
17g.8112199G>ACA287526942ALOXE3c.681-3C>T (n.681-3C>T)
c.1077-3C>T (n.1077-3C>T)
c.1149-3C>T (n.1149-3C>T)
n.954-3C>T
c.678-3C>T (n.678-3C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8112199G=CA2246144808ALOXE3c.681-3C= (n.681-3C=)
c.1077-3C= (n.1077-3C=)
c.1149-3C= (n.1149-3C=)
n.954-3C=
c.678-3C= (n.678-3C=)
17g.8112202G>ACA914149183ALOXE3c.681-6C>T (n.681-6C>T)
c.1077-6C>T (n.1077-6C>T)
c.1149-6C>T (n.1149-6C>T)
n.954-6C>T
c.678-6C>T (n.678-6C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.8112202G=CA2246144809ALOXE3c.681-6C= (n.681-6C=)
c.1077-6C= (n.1077-6C=)
c.1149-6C= (n.1149-6C=)
n.954-6C=
c.678-6C= (n.678-6C=)
17g.8112203G>ACA2246144811ALOXE3c.681-7C>T (n.681-7C>T)
c.1077-7C>T (n.1077-7C>T)
c.1149-7C>T (n.1149-7C>T)
n.954-7C>T
c.678-7C>T (n.678-7C>T)
dbSNP gnomAD v4
17g.8112203G=CA2246144810ALOXE3c.681-7C= (n.681-7C=)
c.1077-7C= (n.1077-7C=)
c.1149-7C= (n.1149-7C=)
n.954-7C=
c.678-7C= (n.678-7C=)
17g.8112204G>ACA624722392ALOXE3c.681-8C>T (n.681-8C>T)
c.1077-8C>T (n.1077-8C>T)
c.1149-8C>T (n.1149-8C>T)
n.954-8C>T
c.678-8C>T (n.678-8C>T)
dbSNP gnomAD v2 gnomAD v4
17g.8112204G=CA2246144812ALOXE3c.681-8C= (n.681-8C=)
c.1077-8C= (n.1077-8C=)
c.1149-8C= (n.1149-8C=)
n.954-8C=
c.678-8C= (n.678-8C=)
17g.8112204G>TCA2635936321ALOXE3c.681-8C>A (n.681-8C>A)
c.1077-8C>A (n.1077-8C>A)
c.1149-8C>A (n.1149-8C>A)
n.954-8C>A
c.678-8C>A (n.678-8C>A)
gnomAD v4
17g.8112206G>ACA8368319ALOXE3c.681-10C>T (n.681-10C>T)
c.1077-10C>T (n.1077-10C>T)
c.1149-10C>T (n.1149-10C>T)
n.954-10C>T
c.678-10C>T (n.678-10C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112206G=CA2246144813ALOXE3c.681-10C= (n.681-10C=)
c.1077-10C= (n.1077-10C=)
c.1149-10C= (n.1149-10C=)
n.954-10C=
c.678-10C= (n.678-10C=)
17g.8112206G>TCA2635936322ALOXE3c.681-10C>A (n.681-10C>A)
c.1077-10C>A (n.1077-10C>A)
c.1149-10C>A (n.1149-10C>A)
n.954-10C>A
c.678-10C>A (n.678-10C>A)
gnomAD v4
17g.8112208G>CCA8368320ALOXE3c.681-12C>G (n.681-12C>G)
c.1077-12C>G (n.1077-12C>G)
c.1149-12C>G (n.1149-12C>G)
n.954-12C>G
c.678-12C>G (n.678-12C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.8112208G=CA2246144814ALOXE3c.681-12C= (n.681-12C=)
c.1077-12C= (n.1077-12C=)
c.1149-12C= (n.1149-12C=)
n.954-12C=
c.678-12C= (n.678-12C=)
17g.8112208G>TCA2635936323ALOXE3c.681-12C>A (n.681-12C>A)
c.1077-12C>A (n.1077-12C>A)
c.1149-12C>A (n.1149-12C>A)
n.954-12C>A
c.678-12C>A (n.678-12C>A)
gnomAD v4
17g.8112209G>ACA2576161469ALOXE3c.681-13C>T (n.681-13C>T)
c.1077-13C>T (n.1077-13C>T)
c.1149-13C>T (n.1149-13C>T)
n.954-13C>T
c.678-13C>T (n.678-13C>T)
gnomAD v4
17g.8112210A=CA2246144815ALOXE3c.681-14T= (n.681-14T=)
c.1077-14T= (n.1077-14T=)
c.1149-14T= (n.1149-14T=)
n.954-14T=
c.678-14T= (n.678-14T=)
17g.8112210A>GCA8368321ALOXE3c.681-14T>C (n.681-14T>C)
c.1077-14T>C (n.1077-14T>C)
c.1149-14T>C (n.1149-14T>C)
n.954-14T>C
c.678-14T>C (n.678-14T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112213A>CCA2635936327ALOXE3c.681-17T>G (n.681-17T>G)
c.1077-17T>G (n.1077-17T>G)
c.1149-17T>G (n.1149-17T>G)
n.954-17T>G
c.678-17T>G (n.678-17T>G)
gnomAD v4
17g.8112214G>ACA287526963ALOXE3c.681-18C>T (n.681-18C>T)
c.1077-18C>T (n.1077-18C>T)
c.1149-18C>T (n.1149-18C>T)
n.954-18C>T
c.678-18C>T (n.678-18C>T)
dbSNP gnomAD v2 gnomAD v4
17g.8112214G=CA2246144816ALOXE3c.681-18C= (n.681-18C=)
c.1077-18C= (n.1077-18C=)
c.1149-18C= (n.1149-18C=)
n.954-18C=
c.678-18C= (n.678-18C=)
17g.8112215A=CA2246144817ALOXE3c.681-19T= (n.681-19T=)
c.1077-19T= (n.1077-19T=)
c.1149-19T= (n.1149-19T=)
n.954-19T=
c.678-19T= (n.678-19T=)
17g.8112215A>TCA8368322ALOXE3c.681-19T>A (n.681-19T>A)
c.1077-19T>A (n.1077-19T>A)
c.1149-19T>A (n.1149-19T>A)
n.954-19T>A
c.678-19T>A (n.678-19T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112216T>CCA2635936328ALOXE3c.681-20A>G (n.681-20A>G)
c.1077-20A>G (n.1077-20A>G)
c.1149-20A>G (n.1149-20A>G)
n.954-20A>G
c.678-20A>G (n.678-20A>G)
gnomAD v4
17g.8112217G>ACA2576161470ALOXE3c.681-21C>T (n.681-21C>T)
c.1077-21C>T (n.1077-21C>T)
c.1149-21C>T (n.1149-21C>T)
n.954-21C>T
c.678-21C>T (n.678-21C>T)
17g.8112218A=CA2246144818ALOXE3c.681-22T= (n.681-22T=)
c.1077-22T= (n.1077-22T=)
c.1149-22T= (n.1149-22T=)
n.954-22T=
c.678-22T= (n.678-22T=)
17g.8112218A>TCA624722397ALOXE3c.681-22T>A (n.681-22T>A)
c.1077-22T>A (n.1077-22T>A)
c.1149-22T>A (n.1149-22T>A)
n.954-22T>A
c.678-22T>A (n.678-22T>A)
dbSNP gnomAD v2 gnomAD v4
17g.8112219G>TCA2635936329ALOXE3c.681-23C>A (n.681-23C>A)
c.1077-23C>A (n.1077-23C>A)
c.1149-23C>A (n.1149-23C>A)
n.954-23C>A
c.678-23C>A (n.678-23C>A)
gnomAD v4
17g.8112220G>ACA8368323ALOXE3c.681-24C>T (n.681-24C>T)
c.1077-24C>T (n.1077-24C>T)
c.1149-24C>T (n.1149-24C>T)
n.954-24C>T
c.678-24C>T (n.678-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.8112220G=CA2246144819ALOXE3c.681-24C= (n.681-24C=)
c.1077-24C= (n.1077-24C=)
c.1149-24C= (n.1149-24C=)
n.954-24C=
c.678-24C= (n.678-24C=)
17g.8112220G>TCA2635936330ALOXE3c.681-24C>A (n.681-24C>A)
c.1077-24C>A (n.1077-24C>A)
c.1149-24C>A (n.1149-24C>A)
n.954-24C>A
c.678-24C>A (n.678-24C>A)
gnomAD v4
17g.8112221G>TCA2635936331ALOXE3c.681-25C>A (n.681-25C>A)
c.1077-25C>A (n.1077-25C>A)
c.1149-25C>A (n.1149-25C>A)
n.954-25C>A
c.678-25C>A (n.678-25C>A)
gnomAD v4
17g.8112222T>GCA2733190321ALOXE3c.681-26A>C (n.681-26A>C)
c.1077-26A>C (n.1077-26A>C)
c.1149-26A>C (n.1149-26A>C)
n.954-26A>C
c.678-26A>C (n.678-26A>C)
dbSNP

Number of alleles fetched