Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31531198T>ACA402139330DSG2n.1057T>A
c.1057T>A
c.1226T>A (p.Ile409Lys)
c.692T>A (p.Ile231Lys)
18g.31531198T>CCA402139335DSG2n.1057T>C
c.1057T>C
c.1226T>C (p.Ile409Thr)
c.692T>C (p.Ile231Thr)
18g.31531198T>GCA402139337DSG2n.1057T>G
c.1057T>G
c.1226T>G (p.Ile409Arg)
c.692T>G (p.Ile231Arg)
18g.31531199A>CCA503765883DSG2n.1058A>C
c.1058A>C
c.1227A>C (p.Ile409=)
c.693A>C (p.Ile231=)
18g.31531199A>GCA402139339DSG2n.1058A>G
c.1058A>G
c.1227A>G (p.Ile409Met)
c.693A>G (p.Ile231Met)
18g.31531199A>TCA503765884DSG2n.1058A>T
c.1058A>T
c.1227A>T (p.Ile409=)
c.693A>T (p.Ile231=)
18g.31531200A>CCA402139341DSG2n.1059A>C
c.1059A>C
c.1228A>C (p.Ile410Leu)
c.694A>C (p.Ile232Leu)
18g.31531200A>GCA402139343DSG2n.1059A>G
c.1059A>G
c.1228A>G (p.Ile410Val)
c.694A>G (p.Ile232Val)
18g.31531200A>TCA402139345DSG2n.1059A>T
c.1059A>T
c.1228A>T (p.Ile410Phe)
c.694A>T (p.Ile232Phe)
18g.31531201T>ACA402139355DSG2n.1060T>A
c.1060T>A
c.1229T>A (p.Ile410Asn)
c.695T>A (p.Ile232Asn)
18g.31531201T>CCA402139359DSG2n.1060T>C
c.1060T>C
c.1229T>C (p.Ile410Thr)
c.695T>C (p.Ile232Thr)
 ClinVar
18g.31531201T>GCA402139358DSG2n.1060T>G
c.1060T>G
c.1229T>G (p.Ile410Ser)
c.695T>G (p.Ile232Ser)
18g.31531202T>ACA503765886DSG2n.1061T>A
c.1061T>A
c.1230T>A (p.Ile410=)
c.696T>A (p.Ile232=)
18g.31531202T>CCA503765885DSG2n.1061T>C
c.1061T>C
c.1230T>C (p.Ile410=)
c.696T>C (p.Ile232=)
18g.31531202T>GCA402139367DSG2n.1061T>G
c.1061T>G
c.1230T>G (p.Ile410Met)
c.696T>G (p.Ile232Met)
 dbSNP gnomAD v3 gnomAD v4
18g.31531202T=CA2293859824DSG2n.1061T=
c.1061T=
c.1230T= (p.Ile410=)
c.696T= (p.Ile232=)
18g.31531203G>ACA402139371DSG2n.1062G>A
c.1062G>A
c.1231G>A (p.Gly411Arg)
c.697G>A (p.Gly233Arg)
 dbSNP gnomAD v3 gnomAD v4
18g.31531203G>CCA402139373DSG2n.1062G>C
c.1062G>C
c.1231G>C (p.Gly411Arg)
c.697G>C (p.Gly233Arg)
18g.31531203G=CA2293859825DSG2n.1062G=
c.1062G=
c.1231G= (p.Gly411=)
c.697G= (p.Gly233=)
18g.31531203G>TCA402139375DSG2n.1062G>T
c.1062G>T
c.1231G>T (p.Gly411Ter)
c.697G>T (p.Gly233Ter)
18g.31531204G>ACA402139381DSG2n.1063G>A
c.1063G>A
c.1232G>A (p.Gly411Glu)
c.698G>A (p.Gly233Glu)
18g.31531204G>CCA402139386DSG2n.1063G>C
c.1063G>C
c.1232G>C (p.Gly411Ala)
c.698G>C (p.Gly233Ala)
18g.31531204G>TCA402139384DSG2n.1063G>T
c.1063G>T
c.1232G>T (p.Gly411Val)
c.698G>T (p.Gly233Val)
18g.31531205A>CCA503765887DSG2n.1064A>C
c.1064A>C
c.1233A>C (p.Gly411=)
c.699A>C (p.Gly233=)
18g.31531205A>GCA503765888DSG2n.1064A>G
c.1064A>G
c.1233A>G (p.Gly411=)
c.699A>G (p.Gly233=)
18g.31531205A>TCA503765889DSG2n.1064A>T
c.1064A>T
c.1233A>T (p.Gly411=)
c.699A>T (p.Gly233=)
18g.31531206A>CCA402139390DSG2n.1065A>C
c.1065A>C
c.1234A>C (p.Asn412His)
c.700A>C (p.Asn234His)
18g.31531206A>GCA402139392DSG2n.1065A>G
c.1065A>G
c.1234A>G (p.Asn412Asp)
c.700A>G (p.Asn234Asp)
18g.31531206A>TCA402139394DSG2n.1065A>T
c.1065A>T
c.1234A>T (p.Asn412Tyr)
c.700A>T (p.Asn234Tyr)
18g.31531207A>CCA402139396DSG2n.1066A>C
c.1066A>C
c.1235A>C (p.Asn412Thr)
c.701A>C (p.Asn234Thr)
18g.31531207A>GCA402139399DSG2n.1066A>G
c.1066A>G
c.1235A>G (p.Asn412Ser)
c.701A>G (p.Asn234Ser)
18g.31531207A>TCA402139400DSG2n.1066A>T
c.1066A>T
c.1235A>T (p.Asn412Ile)
c.701A>T (p.Asn234Ile)
18g.31531208T>ACA402139403DSG2n.1067T>A
c.1067T>A
c.1236T>A (p.Asn412Lys)
c.702T>A (p.Asn234Lys)
18g.31531208T>CCA503765890DSG2n.1067T>C
c.1067T>C
c.1236T>C (p.Asn412=)
c.702T>C (p.Asn234=)
18g.31531208T>GCA402139406DSG2n.1067T>G
c.1067T>G
c.1236T>G (p.Asn412Lys)
c.702T>G (p.Asn234Lys)
18g.31531209T>ACA402139407DSG2n.1068T>A
c.1068T>A
c.1237T>A (p.Phe413Ile)
c.703T>A (p.Phe235Ile)
18g.31531209T>CCA402139408DSG2n.1068T>C
c.1068T>C
c.1237T>C (p.Phe413Leu)
c.703T>C (p.Phe235Leu)
18g.31531209T>GCA402139409DSG2n.1068T>G
c.1068T>G
c.1237T>G (p.Phe413Val)
c.703T>G (p.Phe235Val)
18g.31531210T>ACA402139411DSG2n.1069T>A
c.1069T>A
c.1238T>A (p.Phe413Tyr)
c.704T>A (p.Phe235Tyr)
18g.31531210T>CCA402139412DSG2n.1069T>C
c.1069T>C
c.1238T>C (p.Phe413Ser)
c.704T>C (p.Phe235Ser)
18g.31531210T>GCA402139410DSG2n.1069T>G
c.1069T>G
c.1238T>G (p.Phe413Cys)
c.704T>G (p.Phe235Cys)
18g.31531211T>ACA402139414DSG2n.1070T>A
c.1070T>A
c.1239T>A (p.Phe413Leu)
c.705T>A (p.Phe235Leu)
18g.31531211T>CCA503765891DSG2n.1070T>C
c.1070T>C
c.1239T>C (p.Phe413=)
c.705T>C (p.Phe235=)
18g.31531211T>GCA402139413DSG2n.1070T>G
c.1070T>G
c.1239T>G (p.Phe413Leu)
c.705T>G (p.Phe235Leu)
18g.31531212C>ACA402139417DSG2n.1071C>A
c.1071C>A
c.1240C>A (p.Gln414Lys)
c.706C>A (p.Gln236Lys)
18g.31531212C>GCA402139419DSG2n.1071C>G
c.1071C>G
c.1240C>G (p.Gln414Glu)
c.706C>G (p.Gln236Glu)
18g.31531212C>TCA402139425DSG2n.1071C>T
c.1071C>T
c.1240C>T (p.Gln414Ter)
c.706C>T (p.Gln236Ter)
18g.31531213A>CCA402139431DSG2n.1072A>C
c.1072A>C
c.1241A>C (p.Gln414Pro)
c.707A>C (p.Gln236Pro)
18g.31531213A>GCA402139432DSG2n.1072A>G
c.1072A>G
c.1241A>G (p.Gln414Arg)
c.707A>G (p.Gln236Arg)
18g.31531213A>TCA402139433DSG2n.1072A>T
c.1072A>T
c.1241A>T (p.Gln414Leu)
c.707A>T (p.Gln236Leu)
18g.31531214A=CA2293859826DSG2n.1073A=
c.1073A=
c.1242A= (p.Gln414=)
c.708A= (p.Gln236=)
18g.31531214A>CCA402139436DSG2n.1073A>C
c.1073A>C
c.1242A>C (p.Gln414His)
c.708A>C (p.Gln236His)
18g.31531214A>GCA503765892DSG2n.1073A>G
c.1073A>G
c.1242A>G (p.Gln414=)
c.708A>G (p.Gln236=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31531214A>TCA402139434DSG2n.1073A>T
c.1073A>T
c.1242A>T (p.Gln414His)
c.708A>T (p.Gln236His)
18g.31531215G>ACA041733DSG2n.1074G>A
c.1074G>A
c.1243G>A (p.Ala415Thr)
c.709G>A (p.Ala237Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531215G>CCA402139440DSG2n.1074G>C
c.1074G>C
c.1243G>C (p.Ala415Pro)
c.709G>C (p.Ala237Pro)
18g.31531215G=CA2293859827DSG2n.1074G=
c.1074G=
c.1243G= (p.Ala415=)
c.709G= (p.Ala237=)
18g.31531215G>TCA402139443DSG2n.1074G>T
c.1074G>T
c.1243G>T (p.Ala415Ser)
c.709G>T (p.Ala237Ser)
18g.31531216C>ACA041748DSG2n.1075C>A
c.1075C>A
c.1244C>A (p.Ala415Asp)
c.710C>A (p.Ala237Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531216C=CA2293859828DSG2n.1075C=
c.1075C=
c.1244C= (p.Ala415=)
c.710C= (p.Ala237=)
18g.31531216C>GCA402139450DSG2n.1075C>G
c.1075C>G
c.1244C>G (p.Ala415Gly)
c.710C>G (p.Ala237Gly)
18g.31531216C>TCA402139453DSG2n.1075C>T
c.1075C>T
c.1244C>T (p.Ala415Val)
c.710C>T (p.Ala237Val)
 dbSNP COSMIC
18g.31531217T>ACA503765895DSG2n.1076T>A
c.1076T>A
c.1245T>A (p.Ala415=)
c.711T>A (p.Ala237=)
18g.31531217T>CCA503765894DSG2n.1076T>C
c.1076T>C
c.1245T>C (p.Ala415=)
c.711T>C (p.Ala237=)
 ClinVar dbSNP
18g.31531217T>GCA503765893DSG2n.1076T>G
c.1076T>G
c.1245T>G (p.Ala415=)
c.711T>G (p.Ala237=)
18g.31531218T>ACA402139462DSG2n.1077T>A
c.1077T>A
c.1246T>A (p.Phe416Ile)
c.712T>A (p.Phe238Ile)
18g.31531218T>CCA402139457DSG2n.1077T>C
c.1077T>C
c.1246T>C (p.Phe416Leu)
c.712T>C (p.Phe238Leu)
18g.31531218T>GCA402139460DSG2n.1077T>G
c.1077T>G
c.1246T>G (p.Phe416Val)
c.712T>G (p.Phe238Val)
18g.31531219T>ACA402139465DSG2n.1078T>A
c.1078T>A
c.1247T>A (p.Phe416Tyr)
c.713T>A (p.Phe238Tyr)
18g.31531219T>CCA402139469DSG2n.1078T>C
c.1078T>C
c.1247T>C (p.Phe416Ser)
c.713T>C (p.Phe238Ser)
18g.31531219T>GCA402139471DSG2n.1078T>G
c.1078T>G
c.1247T>G (p.Phe416Cys)
c.713T>G (p.Phe238Cys)
18g.31531220T>ACA402139472DSG2n.1079T>A
c.1079T>A
c.1248T>A (p.Phe416Leu)
c.714T>A (p.Phe238Leu)
18g.31531220T>CCA503765896DSG2n.1079T>C
c.1079T>C
c.1248T>C (p.Phe416=)
c.714T>C (p.Phe238=)
 ClinVar dbSNP gnomAD v4
18g.31531220T>GCA402139474DSG2n.1079T>G
c.1079T>G
c.1248T>G (p.Phe416Leu)
c.714T>G (p.Phe238Leu)
18g.31531223_31531225delCA2641406388DSG2n.1082_1084del
c.1082_1084del
c.1251_1253del (p.Asp417del)
c.717_719del (p.Asp239del)
 gnomAD v4
18g.31531221G>ACA402139478DSG2n.1080G>A
c.1080G>A
c.1249G>A (p.Asp417Asn)
c.715G>A (p.Asp239Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
18g.31531221G>CCA402139480DSG2n.1080G>C
c.1080G>C
c.1249G>C (p.Asp417His)
c.715G>C (p.Asp239His)
18g.31531221G>TCA402139483DSG2n.1080G>T
c.1080G>T
c.1249G>T (p.Asp417Tyr)
c.715G>T (p.Asp239Tyr)
18g.31531222A=CA2293859829DSG2n.1081A=
c.1081A=
c.1250A= (p.Asp417=)
c.716A= (p.Asp239=)
18g.31531222A>CCA402139484DSG2n.1081A>C
c.1081A>C
c.1250A>C (p.Asp417Ala)
c.716A>C (p.Asp239Ala)
18g.31531222A>GCA402139487DSG2n.1081A>G
c.1081A>G
c.1250A>G (p.Asp417Gly)
c.716A>G (p.Asp239Gly)
 gnomAD v4
18g.31531222A>TCA402139489DSG2n.1081A>T
c.1081A>T
c.1250A>T (p.Asp417Val)
c.716A>T (p.Asp239Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.31531222_31531225dupCA16609308DSG2n.1081_1084dup
c.1081_1084dup
c.1250_1253dup (p.Asp419Ter)
c.716_719dup (p.Asp241Ter)
18g.31531223T>ACA402139490DSG2n.1082T>A
c.1082T>A
c.1251T>A (p.Asp417Glu)
c.717T>A (p.Asp239Glu)
18g.31531223T>CCA297737107DSG2n.1082T>C
c.1082T>C
c.1251T>C (p.Asp417=)
c.717T>C (p.Asp239=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31531223T>GCA402139491DSG2n.1082T>G
c.1082T>G
c.1251T>G (p.Asp417Glu)
c.717T>G (p.Asp239Glu)
18g.31531223T=CA2293859830DSG2n.1082T=
c.1082T=
c.1251T= (p.Asp417=)
c.717T= (p.Asp239=)
18g.31531224G>ACA041759DSG2n.1083G>A
c.1083G>A
c.1252G>A (p.Glu418Lys)
c.718G>A (p.Glu240Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531224G>CCA402139493DSG2n.1083G>C
c.1083G>C
c.1252G>C (p.Glu418Gln)
c.718G>C (p.Glu240Gln)
18g.31531224G=CA2293859831DSG2n.1083G=
c.1083G=
c.1252G= (p.Glu418=)
c.718G= (p.Glu240=)
18g.31531224G>TCA402139492DSG2n.1083G>T
c.1083G>T
c.1252G>T (p.Glu418Ter)
c.718G>T (p.Glu240Ter)
18g.31531225A>CCA402139496DSG2n.1084A>C
c.1084A>C
c.1253A>C (p.Glu418Ala)
c.719A>C (p.Glu240Ala)
18g.31531225A>GCA402139497DSG2n.1084A>G
c.1084A>G
c.1253A>G (p.Glu418Gly)
c.719A>G (p.Glu240Gly)
18g.31531225A>TCA402139498DSG2n.1084A>T
c.1084A>T
c.1253A>T (p.Glu418Val)
c.719A>T (p.Glu240Val)
18g.31531226G>ACA503765897DSG2n.1085G>A
c.1085G>A
c.1254G>A (p.Glu418=)
c.720G>A (p.Glu240=)
 dbSNP gnomAD v2 gnomAD v4
18g.31531226G>CCA402139506DSG2n.1085G>C
c.1085G>C
c.1254G>C (p.Glu418Asp)
c.720G>C (p.Glu240Asp)
18g.31531226G=CA2293859832DSG2n.1085G=
c.1085G=
c.1254G= (p.Glu418=)
c.720G= (p.Glu240=)
18g.31531226G>TCA402139509DSG2n.1085G>T
c.1085G>T
c.1254G>T (p.Glu418Asp)
c.720G>T (p.Glu240Asp)
18g.31531226_31531227insATGACA778415202DSG2n.1085_1086insATGA
c.1085_1086insATGA
c.1254_1255insATGA (p.Asp419MetfsTer17)
c.720_721insATGA (p.Asp241MetfsTer17)
 dbSNP
18g.31531226_31531227insAATGGGTCA2563125130DSG2n.1085_1086insAATGGGT
c.1085_1086insAATGGGT
c.1254_1255insAATGGGT (p.Asp419AsnfsTer3)
c.720_721insAATGGGT (p.Asp241AsnfsTer3)
18g.31531227G>ACA402139515DSG2n.1086G>A
c.1086G>A
c.1255G>A (p.Asp419Asn)
c.721G>A (p.Asp241Asn)
 ClinVar dbSNP gnomAD v4
18g.31531227G>CCA402139517DSG2n.1086G>C
c.1086G>C
c.1255G>C (p.Asp419His)
c.721G>C (p.Asp241His)
18g.31531227G=CA2293859833DSG2n.1086G=
c.1086G=
c.1255G= (p.Asp419=)
c.721G= (p.Asp241=)
18g.31531227G>TCA402139518DSG2n.1086G>T
c.1086G>T
c.1255G>T (p.Asp419Tyr)
c.721G>T (p.Asp241Tyr)
 gnomAD v4
18g.31531228A=CA2293859834DSG2n.1087A=
c.1087A=
c.1256A= (p.Asp419=)
c.722A= (p.Asp241=)
18g.31531228A>CCA402139520DSG2n.1087A>C
c.1087A>C
c.1256A>C (p.Asp419Ala)
c.722A>C (p.Asp241Ala)
18g.31531228A>GCA402139523DSG2n.1087A>G
c.1087A>G
c.1256A>G (p.Asp419Gly)
c.722A>G (p.Asp241Gly)
 ClinVar dbSNP gnomAD v4
18g.31531228A>TCA041773DSG2n.1087A>T
c.1087A>T
c.1256A>T (p.Asp419Val)
c.722A>T (p.Asp241Val)
 ClinVar dbSNP ExAC gnomAD v4
18g.31531229C>ACA402139529DSG2n.1088C>A
c.1088C>A
c.1257C>A (p.Asp419Glu)
c.723C>A (p.Asp241Glu)
18g.31531229C>GCA402139535DSG2n.1088C>G
c.1088C>G
c.1257C>G (p.Asp419Glu)
c.723C>G (p.Asp241Glu)
18g.31531229C>TCA503765898DSG2n.1088C>T
c.1088C>T
c.1257C>T (p.Asp419=)
c.723C>T (p.Asp241=)
18g.31531230A>CCA402139543DSG2n.1089A>C
c.1089A>C
c.1258A>C (p.Thr420Pro)
c.724A>C (p.Thr242Pro)
18g.31531230A>GCA402139537DSG2n.1089A>G
c.1089A>G
c.1258A>G (p.Thr420Ala)
c.724A>G (p.Thr242Ala)
18g.31531230A>TCA402139540DSG2n.1089A>T
c.1089A>T
c.1258A>T (p.Thr420Ser)
c.724A>T (p.Thr242Ser)
18g.31531231C>ACA402139547DSG2n.1090C>A
c.1090C>A
c.1259C>A (p.Thr420Asn)
c.725C>A (p.Thr242Asn)
18g.31531231C=CA2293859835DSG2n.1090C=
c.1090C=
c.1259C= (p.Thr420=)
c.725C= (p.Thr242=)
18g.31531231C>GCA402139556DSG2n.1090C>G
c.1090C>G
c.1259C>G (p.Thr420Ser)
c.725C>G (p.Thr242Ser)
 gnomAD v4
18g.31531231C>TCA402139559DSG2n.1090C>T
c.1090C>T
c.1259C>T (p.Thr420Ile)
c.725C>T (p.Thr242Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.31531232T>ACA503765899DSG2n.1091T>A
c.1091T>A
c.1260T>A (p.Thr420=)
c.726T>A (p.Thr242=)
 gnomAD v4
18g.31531232T>CCA503765900DSG2n.1091T>C
c.1091T>C
c.1260T>C (p.Thr420=)
c.726T>C (p.Thr242=)
18g.31531232T>GCA021322DSG2n.1091T>G
c.1091T>G
c.1260T>G (p.Thr420=)
c.726T>G (p.Thr242=)
 dbSNP gnomAD v4
18g.31531232T=CA2293859836DSG2n.1091T=
c.1091T=
c.1260T= (p.Thr420=)
c.726T= (p.Thr242=)
18g.31531233G>ACA402139577DSG2n.1092G>A
c.1092G>A
c.1261G>A (p.Gly421Arg)
c.727G>A (p.Gly243Arg)
18g.31531233G>CCA402139580DSG2n.1092G>C
c.1092G>C
c.1261G>C (p.Gly421Arg)
c.727G>C (p.Gly243Arg)
18g.31531233G>TCA402139582DSG2n.1092G>T
c.1092G>T
c.1261G>T (p.Gly421Ter)
c.727G>T (p.Gly243Ter)
 dbSNP
18g.31531234G>ACA402139584DSG2n.1093G>A
c.1093G>A
c.1262G>A (p.Gly421Glu)
c.728G>A (p.Gly243Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31531234G>CCA402139586DSG2n.1093G>C
c.1093G>C
c.1262G>C (p.Gly421Ala)
c.728G>C (p.Gly243Ala)
 COSMIC
18g.31531234G=CA2293859837DSG2n.1093G=
c.1093G=
c.1262G= (p.Gly421=)
c.728G= (p.Gly243=)
18g.31531234G>TCA402139587DSG2n.1093G>T
c.1093G>T
c.1262G>T (p.Gly421Val)
c.728G>T (p.Gly243Val)
18g.31531235A>CCA503765901DSG2n.1094A>C
c.1094A>C
c.1263A>C (p.Gly421=)
c.729A>C (p.Gly243=)
 ClinVar
18g.31531235A>GCA503765902DSG2n.1094A>G
c.1094A>G
c.1263A>G (p.Gly421=)
c.729A>G (p.Gly243=)
18g.31531235A>TCA503765903DSG2n.1094A>T
c.1094A>T
c.1263A>T (p.Gly421=)
c.729A>T (p.Gly243=)
18g.31531236C>ACA402139605DSG2n.1095C>A
c.1095C>A
c.1264C>A (p.Leu422Ile)
c.730C>A (p.Leu244Ile)
18g.31531236C>GCA402139606DSG2n.1095C>G
c.1095C>G
c.1264C>G (p.Leu422Val)
c.730C>G (p.Leu244Val)
18g.31531236C>TCA503765904DSG2n.1095C>T
c.1095C>T
c.1264C>T (p.Leu422=)
c.730C>T (p.Leu244=)
18g.31531237T>ACA402139607DSG2n.1096T>A
c.1096T>A
c.1265T>A (p.Leu422Gln)
c.731T>A (p.Leu244Gln)
18g.31531237T>CCA402139612DSG2n.1096T>C
c.1096T>C
c.1265T>C (p.Leu422Pro)
c.731T>C (p.Leu244Pro)
 gnomAD v4
18g.31531237T>GCA402139610DSG2n.1096T>G
c.1096T>G
c.1265T>G (p.Leu422Arg)
c.731T>G (p.Leu244Arg)
18g.31531238A=CA2293859838DSG2n.1097A=
c.1097A=
c.1266A= (p.Leu422=)
c.732A= (p.Leu244=)
18g.31531238A>CCA503765905DSG2n.1097A>C
c.1097A>C
c.1266A>C (p.Leu422=)
c.732A>C (p.Leu244=)
18g.31531238A>GCA041781DSG2n.1097A>G
c.1097A>G
c.1266A>G (p.Leu422=)
c.732A>G (p.Leu244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531238A>TCA503765906DSG2n.1097A>T
c.1097A>T
c.1266A>T (p.Leu422=)
c.732A>T (p.Leu244=)
18g.31531239C>ACA402139619DSG2n.1098C>A
c.1098C>A
c.1267C>A (p.Pro423Thr)
c.733C>A (p.Pro245Thr)
18g.31531239C>GCA402139620DSG2n.1098C>G
c.1098C>G
c.1267C>G (p.Pro423Ala)
c.733C>G (p.Pro245Ala)
18g.31531239C>TCA402139623DSG2n.1098C>T
c.1098C>T
c.1267C>T (p.Pro423Ser)
c.733C>T (p.Pro245Ser)
18g.31531240C>ACA402139626DSG2n.1099C>A
c.1099C>A
c.1268C>A (p.Pro423Gln)
c.734C>A (p.Pro245Gln)
18g.31531240C>GCA402139628DSG2n.1099C>G
c.1099C>G
c.1268C>G (p.Pro423Arg)
c.734C>G (p.Pro245Arg)
18g.31531240C>TCA402139631DSG2n.1099C>T
c.1099C>T
c.1268C>T (p.Pro423Leu)
c.734C>T (p.Pro245Leu)
18g.31531241A>CCA503765907DSG2n.1100A>C
c.1100A>C
c.1269A>C (p.Pro423=)
c.735A>C (p.Pro245=)
18g.31531241A>GCA503765908DSG2n.1100A>G
c.1100A>G
c.1269A>G (p.Pro423=)
c.735A>G (p.Pro245=)
18g.31531241A>TCA503765909DSG2n.1100A>T
c.1100A>T
c.1269A>T (p.Pro423=)
c.735A>T (p.Pro245=)
18g.31531242G>ACA402139634DSG2n.1101G>A
c.1101G>A
c.1270G>A (p.Ala424Thr)
c.736G>A (p.Ala246Thr)
18g.31531242G>CCA402139637DSG2n.1101G>C
c.1101G>C
c.1270G>C (p.Ala424Pro)
c.736G>C (p.Ala246Pro)
18g.31531242G>TCA402139641DSG2n.1101G>T
c.1101G>T
c.1270G>T (p.Ala424Ser)
c.736G>T (p.Ala246Ser)
18g.31531243C>ACA402139642DSG2n.1102C>A
c.1102C>A
c.1271C>A (p.Ala424Asp)
c.737C>A (p.Ala246Asp)
18g.31531243C>GCA402139645DSG2n.1102C>G
c.1102C>G
c.1271C>G (p.Ala424Gly)
c.737C>G (p.Ala246Gly)
18g.31531243C>TCA402139650DSG2n.1102C>T
c.1102C>T
c.1271C>T (p.Ala424Val)
c.737C>T (p.Ala246Val)
18g.31531244C>ACA503765910DSG2n.1103C>A
c.1103C>A
c.1272C>A (p.Ala424=)
c.738C>A (p.Ala246=)
 gnomAD v4
18g.31531244C>GCA503765911DSG2n.1103C>G
c.1103C>G
c.1272C>G (p.Ala424=)
c.738C>G (p.Ala246=)
18g.31531244C>TCA503765912DSG2n.1103C>T
c.1103C>T
c.1272C>T (p.Ala424=)
c.738C>T (p.Ala246=)
18g.31531245C>ACA402139661DSG2n.1104C>A
c.1104C>A
c.1273C>A (p.His425Asn)
c.739C>A (p.His247Asn)
18g.31531245C=CA2293859839DSG2n.1104C=
c.1104C=
c.1273C= (p.His425=)
c.739C= (p.His247=)
18g.31531245C>GCA402139658DSG2n.1104C>G
c.1104C>G
c.1273C>G (p.His425Asp)
c.739C>G (p.His247Asp)
18g.31531245C>TCA402139657DSG2n.1104C>T
c.1104C>T
c.1273C>T (p.His425Tyr)
c.739C>T (p.His247Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.31531246A=CA2293859840DSG2n.1105A=
c.1105A=
c.1274A= (p.His425=)
c.740A= (p.His247=)
18g.31531246A>CCA041796DSG2n.1105A>C
c.1105A>C
c.1274A>C (p.His425Pro)
c.740A>C (p.His247Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531246A>GCA402139670DSG2n.1105A>G
c.1105A>G
c.1274A>G (p.His425Arg)
c.740A>G (p.His247Arg)
 ClinVar dbSNP gnomAD v4
18g.31531246A>TCA402139672DSG2n.1105A>T
c.1105A>T
c.1274A>T (p.His425Leu)
c.740A>T (p.His247Leu)
18g.31531247T>ACA402139675DSG2n.1106T>A
c.1106T>A
c.1275T>A (p.His425Gln)
c.741T>A (p.His247Gln)
 gnomAD v4
18g.31531247T>CCA503765913DSG2n.1106T>C
c.1106T>C
c.1275T>C (p.His425=)
c.741T>C (p.His247=)
 dbSNP gnomAD v4
18g.31531247T>GCA402139679DSG2n.1106T>G
c.1106T>G
c.1275T>G (p.His425Gln)
c.741T>G (p.His247Gln)
18g.31531247T=CA2293859841DSG2n.1106T=
c.1106T=
c.1275T= (p.His425=)
c.741T= (p.His247=)
18g.31531248G>ACA402139682DSG2n.1107G>A
c.1107G>A
c.1276G>A (p.Ala426Thr)
c.742G>A (p.Ala248Thr)
 ClinVar
18g.31531248G>CCA402139685DSG2n.1107G>C
c.1107G>C
c.1276G>C (p.Ala426Pro)
c.742G>C (p.Ala248Pro)
18g.31531248G>TCA402139687DSG2n.1107G>T
c.1107G>T
c.1276G>T (p.Ala426Ser)
c.742G>T (p.Ala248Ser)
18g.31531249C>ACA402139691DSG2n.1108C>A
c.1108C>A
c.1277C>A (p.Ala426Glu)
c.743C>A (p.Ala248Glu)
18g.31531249C=CA2293859842DSG2n.1108C=
c.1108C=
c.1277C= (p.Ala426=)
c.743C= (p.Ala248=)
18g.31531249C>GCA402139694DSG2n.1108C>G
c.1108C>G
c.1277C>G (p.Ala426Gly)
c.743C>G (p.Ala248Gly)
18g.31531249C>TCA402139697DSG2n.1108C>T
c.1108C>T
c.1277C>T (p.Ala426Val)
c.743C>T (p.Ala248Val)
 ClinVar dbSNP
18g.31531250A=CA2293859843DSG2n.1109A=
c.1109A=
c.1278A= (p.Ala426=)
c.744A= (p.Ala248=)
18g.31531250A>CCA503765914DSG2n.1109A>C
c.1109A>C
c.1278A>C (p.Ala426=)
c.744A>C (p.Ala248=)
18g.31531250A>GCA503765915DSG2n.1109A>G
c.1109A>G
c.1278A>G (p.Ala426=)
c.744A>G (p.Ala248=)
 ClinVar dbSNP gnomAD v4
18g.31531250A>TCA503765916DSG2n.1109A>T
c.1109A>T
c.1278A>T (p.Ala426=)
c.744A>T (p.Ala248=)
18g.31531251A=CA2293859844DSG2n.1110A=
c.1110A=
c.1279A= (p.Arg427=)
c.745A= (p.Arg249=)
18g.31531251A>CCA503765917DSG2n.1110A>C
c.1110A>C
c.1279A>C (p.Arg427=)
c.745A>C (p.Arg249=)
18g.31531251A>GCA402139700DSG2n.1110A>G
c.1110A>G
c.1279A>G (p.Arg427Gly)
c.745A>G (p.Arg249Gly)
18g.31531251A>TCA402139702DSG2n.1110A>T
c.1110A>T
c.1279A>T (p.Arg427Ter)
c.745A>T (p.Arg249Ter)
 dbSNP gnomAD v2 gnomAD v4
18g.31531252G>ACA402139708DSG2n.1111G>A
c.1111G>A
c.1280G>A (p.Arg427Lys)
c.746G>A (p.Arg249Lys)
 ClinVar
18g.31531252G>CCA402139710DSG2n.1111G>C
c.1111G>C
c.1280G>C (p.Arg427Thr)
c.746G>C (p.Arg249Thr)
18g.31531252G>TCA402139705DSG2n.1111G>T
c.1111G>T
c.1280G>T (p.Arg427Ile)
c.746G>T (p.Arg249Ile)
18g.31531253G>ACA402139713DSG2n.1112G>A
c.1112G>A
c.1280+1G>A (n.1280+1G>A)
c.746+1G>A (n.746+1G>A)
 COSMIC
18g.31531253G>CCA402139718DSG2n.1112G>C
c.1112G>C
c.1280+1G>C (n.1280+1G>C)
c.746+1G>C (n.746+1G>C)
18g.31531253G>TCA402139725DSG2n.1112G>T
c.1112G>T
c.1280+1G>T (n.1280+1G>T)
c.746+1G>T (n.746+1G>T)
 gnomAD v4
18g.31531254T>ACA402139727DSG2n.1113T>A
c.1113T>A
c.1280+2T>A (n.1280+2T>A)
c.746+2T>A (n.746+2T>A)
18g.31531254T>CCA402139729DSG2n.1113T>C
c.1113T>C
c.1280+2T>C (n.1280+2T>C)
c.746+2T>C (n.746+2T>C)
18g.31531254T>GCA402139731DSG2n.1113T>G
c.1113T>G
c.1280+2T>G (n.1280+2T>G)
c.746+2T>G (n.746+2T>G)
18g.31531255A>GCA2641406389DSG2n.1114A>G
c.1114A>G
c.1280+3A>G (n.1280+3A>G)
c.746+3A>G (n.746+3A>G)
 gnomAD v4
18g.31531255_31531259delinsAAGAGCA2293859845DSG2n.1114_1118delinsAAGAG
c.1114_1118delinsAAGAG
c.1280+3_1280+7delinsAAGAG (n.1280+3_1280+7delinsAAGAG)
c.746+3_746+7delinsAAGAG (n.746+3_746+7delinsAAGAG)
18g.31531262_31531263delCA041870DSG2n.1121_1122del
c.1121_1122del
c.1280+10_1280+11del (n.1280+10_1280+11del)
c.746+10_746+11del (n.746+10_746+11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531260_31531263delCA919958844DSG2n.1119_1122del
c.1119_1122del
c.1280+8_1280+11del (n.1280+8_1280+11del)
c.746+8_746+11del (n.746+8_746+11del)
 dbSNP
18g.31531257_31531263delCA2812003733DSG2n.1116_1122del
c.1116_1122del
c.1280+5_1280+11del (n.1280+5_1280+11del)
c.746+5_746+11del (n.746+5_746+11del)
18g.31531260A=CA2293859846DSG2n.1119A=
c.1119A=
c.1280+8A= (n.1280+8A=)
c.746+8A= (n.746+8A=)
18g.31531260A>GCA041915DSG2n.1119A>G
c.1119A>G
c.1280+8A>G (n.1280+8A>G)
c.746+8A>G (n.746+8A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531261G>ACA2739268634DSG2n.1120G>A
c.1120G>A
c.1280+9G>A (n.1280+9G>A)
c.746+9G>A (n.746+9G>A)
 ClinVar
18g.31531262A>TCA2641406390DSG2n.1121A>T
c.1121A>T
c.1280+10A>T (n.1280+10A>T)
c.746+10A>T (n.746+10A>T)
 gnomAD v4
18g.31531264T>GCA2576480399DSG2n.1123T>G
c.1123T>G
c.1280+12T>G (n.1280+12T>G)
c.746+12T>G (n.746+12T>G)
 gnomAD v4
18g.31531264_31531265insCTCTCA2812003735DSG2n.1123_1124insCTCT
c.1123_1124insCTCT
c.1280+12_1280+13insCTCT (n.1280+12_1280+13insCTCT)
c.746+12_746+13insCTCT (n.746+12_746+13insCTCT)
18g.31531265G>TCA2812003737DSG2n.1124G>T
c.1124G>T
c.1280+13G>T (n.1280+13G>T)
c.746+13G>T (n.746+13G>T)
18g.31531266A=CA2293859847DSG2n.1125A=
c.1125A=
c.1280+14A= (n.1280+14A=)
c.746+14A= (n.746+14A=)
18g.31531266A>GCA041801DSG2n.1125A>G
c.1125A>G
c.1280+14A>G (n.1280+14A>G)
c.746+14A>G (n.746+14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531267delCA2739268635DSG2n.1126del
c.1126del
c.1280+15del (n.1280+15del)
c.746+15del (n.746+15del)
 ClinVar
18g.31531267C=CA2293859848DSG2n.1126C=
c.1126C=
c.1280+15C= (n.1280+15C=)
c.746+15C= (n.746+15C=)
18g.31531267C>TCA041810DSG2n.1126C>T
c.1126C>T
c.1280+15C>T (n.1280+15C>T)
c.746+15C>T (n.746+15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531268A=CA2293859849DSG2n.1127A=
c.1127A=
c.1280+16A= (n.1280+16A=)
c.746+16A= (n.746+16A=)
18g.31531268A>CCA2812003738DSG2n.1127A>C
c.1127A>C
c.1280+16A>C (n.1280+16A>C)
c.746+16A>C (n.746+16A>C)
18g.31531268A>GCA041818DSG2n.1127A>G
c.1127A>G
c.1280+16A>G (n.1280+16A>G)
c.746+16A>G (n.746+16A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531269C=CA2293859850DSG2n.1128C=
c.1128C=
c.1280+17C= (n.1280+17C=)
c.746+17C= (n.746+17C=)
18g.31531269C>TCA041830DSG2n.1128C>T
c.1128C>T
c.1280+17C>T (n.1280+17C>T)
c.746+17C>T (n.746+17C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531270G>ACA041846DSG2n.1129G>A
c.1129G>A
c.1280+18G>A (n.1280+18G>A)
c.746+18G>A (n.746+18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531270G>CCA041859DSG2n.1129G>C
c.1129G>C
c.1280+18G>C (n.1280+18G>C)
c.746+18G>C (n.746+18G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31531270G=CA2293859851DSG2n.1129G=
c.1129G=
c.1280+18G= (n.1280+18G=)
c.746+18G= (n.746+18G=)
18g.31531274A>GCA2812003740DSG2n.1133A>G
c.1133A>G
c.1280+22A>G (n.1280+22A>G)
c.746+22A>G (n.746+22A>G)
18g.31531274_31531278delinsATTTCCA2293859852DSG2n.1133_1137delinsATTTC
c.1133_1137delinsATTTC
c.1280+22_1280+26delinsATTTC (n.1280+22_1280+26delinsATTTC)
c.746+22_746+26delinsATTTC (n.746+22_746+26delinsATTTC)
18g.31531275T>CCA297737169DSG2n.1134T>C
c.1134T>C
c.1280+23T>C (n.1280+23T>C)
c.746+23T>C (n.746+23T>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31531275T=CA2293859853DSG2n.1134T=
c.1134T=
c.1280+23T= (n.1280+23T=)
c.746+23T= (n.746+23T=)
18g.31531278_31531281delCA919958845DSG2n.1137_1140del
c.1137_1140del
c.1280+26_1280+29del (n.1280+26_1280+29del)
c.746+26_746+29del (n.746+26_746+29del)
 dbSNP gnomAD v4
18g.31531279T>CCA2293859854DSG2n.1138T>C
c.1138T>C
c.1280+27T>C (n.1280+27T>C)
c.746+27T>C (n.746+27T>C)
 dbSNP gnomAD v4
18g.31531279T=CA2293859855DSG2n.1138T=
c.1138T=
c.1280+27T= (n.1280+27T=)
c.746+27T= (n.746+27T=)
18g.31531286delCA2576480400DSG2n.1145del
c.1145del
c.1280+34del (n.1280+34del)
c.746+34del (n.746+34del)
18g.31531284T>CCA2641406391DSG2n.1143T>C
c.1143T>C
c.1280+32T>C (n.1280+32T>C)
c.746+32T>C (n.746+32T>C)
 gnomAD v4
18g.31531286T>CCA2576480401DSG2n.1145T>C
c.1145T>C
c.1280+34T>C (n.1280+34T>C)
c.746+34T>C (n.746+34T>C)
18g.31531288A>CCA2812003741DSG2n.1147A>C
c.1147A>C
c.1280+36A>C (n.1280+36A>C)
c.746+36A>C (n.746+36A>C)
18g.31531289A>GCA2641406392DSG2n.1148A>G
c.1148A>G
c.1280+37A>G (n.1280+37A>G)
c.746+37A>G (n.746+37A>G)
 gnomAD v4
18g.31531290T>CCA2576480402DSG2n.1149T>C
c.1149T>C
c.1280+38T>C (n.1280+38T>C)
c.746+38T>C (n.746+38T>C)
18g.31531292A>GCA2576480403DSG2n.1151A>G
c.1151A>G
c.1280+40A>G (n.1280+40A>G)
c.746+40A>G (n.746+40A>G)
18g.31531293T>GCA656949436DSG2n.1152T>G
c.1152T>G
c.1280+41T>G (n.1280+41T>G)
c.746+41T>G (n.746+41T>G)
 COSMIC COSMIC
18g.31531296T>CCA041885DSG2n.1155T>C
c.1155T>C
c.1280+44T>C (n.1280+44T>C)
c.746+44T>C (n.746+44T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31531296T>GCA2641406393DSG2n.1155T>G
c.1155T>G
c.1280+44T>G (n.1280+44T>G)
c.746+44T>G (n.746+44T>G)
 gnomAD v4
18g.31531296T=CA2293859856DSG2n.1155T=
c.1155T=
c.1280+44T= (n.1280+44T=)
c.746+44T= (n.746+44T=)
18g.31531297C>ACA2641406394DSG2n.1156C>A
c.1156C>A
c.1280+45C>A (n.1280+45C>A)
c.746+45C>A (n.746+45C>A)
 gnomAD v4
18g.31531298A=CA2293859857DSG2n.1157A=
c.1157A=
c.1280+46A= (n.1280+46A=)
c.746+46A= (n.746+46A=)
18g.31531298A>GCA2641406395DSG2n.1157A>G
c.1157A>G
c.1280+46A>G (n.1280+46A>G)
c.746+46A>G (n.746+46A>G)
 gnomAD v4
18g.31531298A>TCA629453603DSG2n.1157A>T
c.1157A>T
c.1280+46A>T (n.1280+46A>T)
c.746+46A>T (n.746+46A>T)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched