Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240868866_240871449delCA2741808836AGXTc.1_524del
n.21_544del
ClinVar
2g.240869020A>CCA351313302AGXTc.155A>C (p.Asp52Ala)
n.175A>C
n.405+1213T>G
2g.240869020A>GCA351313303AGXTc.155A>G (p.Asp52Gly)
n.175A>G
n.405+1213T>C
2g.240869020A>TCA351313304AGXTc.155A>T (p.Asp52Val)
n.175A>T
n.405+1213T>A
2g.240869021T>ACA351313305AGXTc.156T>A (p.Asp52Glu)
n.176T>A
n.405+1212A>T
2g.240869021T>CCA2208989AGXTc.156T>C (p.Asp52=)
n.176T>C
n.405+1212A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869021T>GCA351313306AGXTc.156T>G (p.Asp52Glu)
n.176T>G
n.405+1212A>C
2g.240869021T=CA1339330817AGXTc.156T= (p.Asp52=)
n.176T=
n.405+1212A=
2g.240869022A>CCA351313308AGXTc.157A>C (p.Met53Leu)
n.177A>C
n.405+1211T>G
2g.240869022A>GCA351313309AGXTc.157A>G (p.Met53Val)
n.177A>G
n.405+1211T>C
2g.240869022A>TCA351313307AGXTc.157A>T (p.Met53Leu)
n.177A>T
n.405+1211T>A
2g.240869023T>ACA351313311AGXTc.158T>A (p.Met53Lys)
n.178T>A
n.405+1210A>T
2g.240869023T>CCA351313310AGXTc.158T>C (p.Met53Thr)
n.178T>C
n.405+1210A>G
gnomAD v4 COSMIC
2g.240869023T>GCA351313312AGXTc.158T>G (p.Met53Arg)
n.178T>G
n.405+1210A>C
2g.240869024G>ACA351313313AGXTc.159G>A (p.Met53Ile)
n.179G>A
n.405+1209C>T
2g.240869024G>CCA351313315AGXTc.159G>C (p.Met53Ile)
n.179G>C
n.405+1209C>G
2g.240869024G>TCA351313314AGXTc.159G>T (p.Met53Ile)
n.179G>T
n.405+1209C>A
2g.240869025T>ACA351313316AGXTc.160T>A (p.Tyr54Asn)
n.180T>A
n.405+1208A>T
2g.240869025T>CCA351313318AGXTc.160T>C (p.Tyr54His)
n.180T>C
n.405+1208A>G
dbSNP
2g.240869025T>GCA351313317AGXTc.160T>G (p.Tyr54Asp)
n.180T>G
n.405+1208A>C
2g.240869025T=CA1339330818AGXTc.160T= (p.Tyr54=)
n.180T=
n.405+1208A=
2g.240869026A>CCA351313319AGXTc.161A>C (p.Tyr54Ser)
n.181A>C
n.405+1207T>G
2g.240869026A>GCA351313321AGXTc.161A>G (p.Tyr54Cys)
n.181A>G
n.405+1207T>C
2g.240869026A>TCA351313320AGXTc.161A>T (p.Tyr54Phe)
n.181A>T
n.405+1207T>A
2g.240869027C>ACA351313322AGXTc.162C>A (p.Tyr54Ter)
n.182C>A
n.405+1206G>T
2g.240869027C>GCA351313323AGXTc.162C>G (p.Tyr54Ter)
n.182C>G
n.405+1206G>C
2g.240869027C>TCA432234665AGXTc.162C>T (p.Tyr54=)
n.182C>T
n.405+1206G>A
2g.240869028C>ACA351313324AGXTc.163C>A (p.Gln55Lys)
n.183C>A
n.405+1205G>T
2g.240869028C>GCA351313326AGXTc.163C>G (p.Gln55Glu)
n.183C>G
n.405+1205G>C
2g.240869028C>TCA351313325AGXTc.163C>T (p.Gln55Ter)
n.183C>T
n.405+1205G>A
2g.240869029A>CCA351313327AGXTc.164A>C (p.Gln55Pro)
n.184A>C
n.405+1204T>G
2g.240869029A>GCA351313328AGXTc.164A>G (p.Gln55Arg)
n.184A>G
n.405+1204T>C
2g.240869029A>TCA351313329AGXTc.164A>T (p.Gln55Leu)
n.184A>T
n.405+1204T>A
2g.240869030G>ACA432234668AGXTc.165G>A (p.Gln55=)
n.185G>A
n.405+1203C>T
gnomAD v4
2g.240869030G>CCA351313330AGXTc.165G>C (p.Gln55His)
n.185G>C
n.405+1203C>G
2g.240869030G=CA1339330819AGXTc.165G= (p.Gln55=)
n.185G=
n.405+1203C=
2g.240869030G>TCA351313331AGXTc.165G>T (p.Gln55His)
n.185G>T
n.405+1203C>A
dbSNP gnomAD v2 gnomAD v4
2g.240869031G>ACA351313332AGXTc.165+1G>A (n.165+1G>A)
n.185+1G>A
n.405+1202C>T
gnomAD v4
2g.240869031G>CCA351313333AGXTc.165+1G>C (n.165+1G>C)
n.185+1G>C
n.405+1202C>G
2g.240869031G>TCA351313334AGXTc.165+1G>T (n.165+1G>T)
n.185+1G>T
n.405+1202C>A
ClinVar
2g.240869032T>ACA351313335AGXTc.165+2T>A (n.165+2T>A)
n.185+2T>A
n.405+1201A>T
2g.240869032T>CCA351313336AGXTc.165+2T>C (n.165+2T>C)
n.185+2T>C
n.405+1201A>G
2g.240869032T>GCA351313337AGXTc.165+2T>G (n.165+2T>G)
n.185+2T>G
n.405+1201A>C
2g.240869032_240869035delinsTAGGCA1339330820AGXTc.165+2_165+5delinsTAGG (n.165+2_165+5delinsTAGG)
n.185+2_185+5delinsTAGG
n.405+1198_405+1201delinsCCTA
2g.240869033A>GCA2664004858AGXTc.165+3A>G (n.165+3A>G)
n.185+3A>G
n.405+1200T>C
gnomAD v4
2g.240869035_240869037delCA540752875AGXTc.165+5_165+7del (n.165+5_165+7del)
n.185+5_185+7del
n.405+1198_405+1200del
dbSNP gnomAD v2 gnomAD v4
2g.240869034G>ACA2208990AGXTc.165+4G>A (n.165+4G>A)
n.185+4G>A
n.405+1199C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.240869034G=CA1339330821AGXTc.165+4G= (n.165+4G=)
n.185+4G=
n.405+1199C=
2g.240869035G>ACA645538648AGXTc.165+5G>A (n.165+5G>A)
n.185+5G>A
n.405+1198C>T
COSMIC
2g.240869035G>TCA2754891879AGXTc.165+5G>T (n.165+5G>T)
n.185+5G>T
n.405+1198C>A
2g.240869037G>ACA766960421AGXTc.165+7G>A (n.165+7G>A)
n.185+7G>A
n.405+1196C>T
dbSNP gnomAD v3 gnomAD v4
2g.240869037G>CCA2664004861AGXTc.165+7G>C (n.165+7G>C)
n.185+7G>C
n.405+1196C>G
gnomAD v4
2g.240869037G=CA1339330822AGXTc.165+7G= (n.165+7G=)
n.185+7G=
n.405+1196C=
2g.240869038T>ACA2664004864AGXTc.165+8T>A (n.165+8T>A)
n.185+8T>A
n.405+1195A>T
gnomAD v4
2g.240869038T>CCA1044064699AGXTc.165+8T>C (n.165+8T>C)
n.185+8T>C
n.405+1195A>G
dbSNP gnomAD v3 gnomAD v4
2g.240869038T>GCA2701683039AGXTc.165+8T>G (n.165+8T>G)
n.185+8T>G
n.405+1195A>C
dbSNP
2g.240869038T=CA1339330823AGXTc.165+8T= (n.165+8T=)
n.185+8T=
n.405+1195A=
2g.240869038_240869039delinsTGCA1339330824AGXTc.165+8_165+9delinsTG (n.165+8_165+9delinsTG)
n.185+8_185+9delinsTG
n.405+1194_405+1195delinsCA
2g.240869039G>TCA2503016997AGXTc.165+9G>T (n.165+9G>T)
n.185+9G>T
n.405+1194C>A
2g.240869043delCA1339330825AGXTc.165+13del (n.165+13del)
n.185+13del
n.405+1194del
dbSNP gnomAD v4
2g.240869040G>ACA2664004870AGXTc.165+10G>A (n.165+10G>A)
n.185+10G>A
n.405+1193C>T
gnomAD v4
2g.240869040G>CCA2580068011AGXTc.165+10G>C (n.165+10G>C)
n.185+10G>C
n.405+1193C>G
ClinVar
2g.240869040G>TCA2664004871AGXTc.165+10G>T (n.165+10G>T)
n.185+10G>T
n.405+1193C>A
gnomAD v4
2g.240869042G>ACA2697550610AGXTc.165+12G>A (n.165+12G>A)
n.185+12G>A
n.405+1191C>T
ClinVar
2g.240869042G>CCA2208992AGXTc.165+12G>C (n.165+12G>C)
n.185+12G>C
n.405+1191C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869042G=CA1339330826AGXTc.165+12G= (n.165+12G=)
n.185+12G=
n.405+1191C=
2g.240869042G>TCA2208991AGXTc.165+12G>T (n.165+12G>T)
n.185+12G>T
n.405+1191C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869043G>CCA2577302081AGXTc.165+13G>C (n.165+13G>C)
n.185+13G>C
n.405+1190C>G
2g.240869043G=CA1339330827AGXTc.165+13G= (n.165+13G=)
n.185+13G=
n.405+1190C=
2g.240869043G>TCA2664004876AGXTc.165+13G>T (n.165+13G>T)
n.185+13G>T
n.405+1190C>A
gnomAD v4
2g.240869045_240869046insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCCA540752877AGXTc.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC)
n.185+15_185+16insGCTCGGGGTGCCTGGGTCTCACCCATGTTCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTC
n.405+1189_405+1190insGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCACCCCGAGCGA
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869045_240869046insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCCA2664004884AGXTc.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC)
n.185+15_185+16insGCTTGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC
n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCAAGCGA
gnomAD v4
2g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCCA916813744AGXTc.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC)
n.185+15_185+16insGCTCGGGGGGCCTGGGTCTCACCCATTTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC
n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAAAATGGGTGAGACCCAGGCCCCCCGAGCGA
dbSNP gnomAD v4
2g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCCA2664004880AGXTc.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC)
n.185+15_185+16insGCTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC
n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCGAGCGA
gnomAD v4
2g.240869045_240869046insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCCA2664004883AGXTc.165+15_165+16insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC)
n.185+15_185+16insGCTCGGGGGTCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC
n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGACCCCCGAGCGA
gnomAD v4
2g.240869045_240869046insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCCA540752876AGXTc.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC (n.165+15_165+16insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC)
n.185+15_185+16insGCTCGGGGGGCCTGGGTCTCACCCACGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTC
n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACGTGGGTGAGACCCAGGCCCCCCGAGCGA
gnomAD v2
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2754891881AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1189_405+1190insGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAACATGGGTGAGACCCAGGCCCCCCGAGTGA
2g.240869049_240869122dupCA275557AGXTc.165+19_166-48dup (n.165+19_166-48dup)
n.185+19_186-48dup
n.405+1116_405+1189dup
ClinVar dbSNP
2g.240869045_240869152dupCA915948958AGXTc.165+15_166-18dup (n.165+15_166-18dup)
n.185+15_186-18dup
n.405+1082_405+1189dup
2g.240869046A=CA1339330828AGXTc.165+16A= (n.165+16A=)
n.185+16A=
n.405+1187T=
2g.240869046A>CCA2581836825AGXTc.165+16A>C (n.165+16A>C)
n.185+16A>C
n.405+1187T>G
2g.240869046A>GCA275554AGXTc.165+16A>G (n.165+16A>G)
n.185+16A>G
n.405+1187T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869046A>TCA2208993AGXTc.165+16A>T (n.165+16A>T)
n.185+16A>T
n.405+1187T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869046_240869054delCA2664004888AGXTc.165+16_165+24del (n.165+16_165+24del)
n.185+16_185+24del
n.405+1179_405+1187del
gnomAD v4
2g.240869047C=CA1339330829AGXTc.165+17C= (n.165+17C=)
n.185+17C=
n.405+1186G=
2g.240869047C>TCA2208994AGXTc.165+17C>T (n.165+17C>T)
n.185+17C>T
n.405+1186G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240869048T>CCA2577302084AGXTc.165+18T>C (n.165+18T>C)
n.185+18T>C
n.405+1185A>G
2g.240869049C=CA1339330830AGXTc.165+19C= (n.165+19C=)
n.185+19C=
n.405+1184G=
2g.240869049C>TCA2208995AGXTc.165+19C>T (n.165+19C>T)
n.185+19C>T
n.405+1184G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869049_240869050delinsCGCA1339330831AGXTc.165+19_165+20delinsCG (n.165+19_165+20delinsCG)
n.185+19_185+20delinsCG
n.405+1183_405+1184delinsCG
2g.240869050G>ACA2208996AGXTc.165+20G>A (n.165+20G>A)
n.185+20G>A
n.405+1183C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869050G=CA1339330833AGXTc.165+20G= (n.165+20G=)
n.185+20G=
n.405+1183C=
2g.240869050G>TCA1339330832AGXTc.165+20G>T (n.165+20G>T)
n.185+20G>T
n.405+1183C>A
dbSNP
2g.240869055dupCA540752878AGXTc.165+25dup (n.165+25dup)
n.185+25dup
n.405+1183dup
gnomAD v2 gnomAD v4
2g.240869055delCA1339330834AGXTc.165+25del (n.165+25del)
n.185+25del
n.405+1183del
dbSNP gnomAD v4
2g.240869051G>CCA2208997AGXTc.165+21G>C (n.165+21G>C)
n.185+21G>C
n.405+1182C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869051G=CA1339330835AGXTc.165+21G= (n.165+21G=)
n.185+21G=
n.405+1182C=
2g.240869052G>ACA2740381934AGXTc.165+22G>A (n.165+22G>A)
n.185+22G>A
n.405+1181C>T
2g.240869052G>TCA2664004897AGXTc.165+22G>T (n.165+22G>T)
n.185+22G>T
n.405+1181C>A
gnomAD v4
2g.240869053G>CCA2208998AGXTc.165+23G>C (n.165+23G>C)
n.185+23G>C
n.405+1180C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240869053G=CA1339330836AGXTc.165+23G= (n.165+23G=)
n.185+23G=
n.405+1180C=
2g.240869054G>ACA2664004899AGXTc.165+24G>A (n.165+24G>A)
n.185+24G>A
n.405+1179C>T
gnomAD v4
2g.240869054G=CA1339330837AGXTc.165+24G= (n.165+24G=)
n.185+24G=
n.405+1179C=
2g.240869054G>TCA2208999AGXTc.165+24G>T (n.165+24G>T)
n.185+24G>T
n.405+1179C>A
dbSNP ExAC
2g.240869055G>ACA2209000AGXTc.165+25G>A (n.165+25G>A)
n.185+25G>A
n.405+1178C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869055G>CCA766960494AGXTc.165+25G>C (n.165+25G>C)
n.185+25G>C
n.405+1178C>G
dbSNP gnomAD v4
2g.240869055G=CA1339330838AGXTc.165+25G= (n.165+25G=)
n.185+25G=
n.405+1178C=
2g.240869055G>TCA540752879AGXTc.165+25G>T (n.165+25G>T)
n.185+25G>T
n.405+1178C>A
dbSNP gnomAD v2 gnomAD v4
2g.240869056C>GCA2754891883AGXTc.165+26C>G (n.165+26C>G)
n.185+26C>G
n.405+1177G>C
2g.240869057C>GCA2664004905AGXTc.165+27C>G (n.165+27C>G)
n.185+27C>G
n.405+1176G>C
gnomAD v4
2g.240869059G=CA1339330839AGXTc.165+29G= (n.165+29G=)
n.185+29G=
n.405+1174C=
2g.240869059G>TCA2209001AGXTc.165+29G>T (n.165+29G>T)
n.185+29G>T
n.405+1174C>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240869060G>ACA2664004909AGXTc.165+30G>A (n.165+30G>A)
n.185+30G>A
n.405+1173C>T
gnomAD v4
2g.240869060G=CA1339330840AGXTc.165+30G= (n.165+30G=)
n.185+30G=
n.405+1173C=
2g.240869060G>TCA2209002AGXTc.165+30G>T (n.165+30G>T)
n.185+30G>T
n.405+1173C>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240869061G>ACA1044064729AGXTc.165+31G>A (n.165+31G>A)
n.185+31G>A
n.405+1172C>T
dbSNP gnomAD v3 gnomAD v4
2g.240869061G=CA1339330841AGXTc.165+31G= (n.165+31G=)
n.185+31G=
n.405+1172C=
2g.240869061G>TCA2209003AGXTc.165+31G>T (n.165+31G>T)
n.185+31G>T
n.405+1172C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869062T>GCA2664004914AGXTc.165+32T>G (n.165+32T>G)
n.185+32T>G
n.405+1171A>C
gnomAD v4
2g.240869066_240869067delCA2664004916AGXTc.165+36_165+37del (n.165+36_165+37del)
n.185+36_185+37del
n.405+1167_405+1168del
gnomAD v4
2g.240869067C=CA1339330842AGXTc.165+37C= (n.165+37C=)
n.185+37C=
n.405+1166G=
2g.240869067C>TCA540752880AGXTc.165+37C>T (n.165+37C>T)
n.185+37C>T
n.405+1166G>A
dbSNP gnomAD v2 gnomAD v4
2g.240869068C=CA1339330843AGXTc.165+38C= (n.165+38C=)
n.185+38C=
n.405+1165G=
2g.240869068C>GCA1339330844AGXTc.165+38C>G (n.165+38C>G)
n.185+38C>G
n.405+1165G>C
dbSNP
2g.240869068C>TCA2664004919AGXTc.165+38C>T (n.165+38C>T)
n.185+38C>T
n.405+1165G>A
gnomAD v4
2g.240869069C>ACA1339330846AGXTc.165+39C>A (n.165+39C>A)
n.185+39C>A
n.405+1164G>T
dbSNP gnomAD v4
2g.240869069C=CA1339330845AGXTc.165+39C= (n.165+39C=)
n.185+39C=
n.405+1164G=
2g.240869069C>GCA2664004921AGXTc.165+39C>G (n.165+39C>G)
n.185+39C>G
n.405+1164G>C
gnomAD v4
2g.240869069C>TCA2577302091AGXTc.165+39C>T (n.165+39C>T)
n.185+39C>T
n.405+1164G>A
2g.240869070A=CA1339330847AGXTc.165+40A= (n.165+40A=)
n.185+40A=
n.405+1163T=
2g.240869070A>CCA275559AGXTc.165+40A>C (n.165+40A>C)
n.185+40A>C
n.405+1163T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869070A>GCA2664004925AGXTc.165+40A>G (n.165+40A>G)
n.185+40A>G
n.405+1163T>C
gnomAD v4
2g.240869070_240869071insGCA2664004929AGXTc.165+40_165+41insG (n.165+40_165+41insG)
n.185+40_185+41insG
n.405+1162_405+1163insC
gnomAD v4
2g.240869071T>CCA2664004931AGXTc.165+41T>C (n.165+41T>C)
n.185+41T>C
n.405+1162A>G
gnomAD v4
2g.240869072G>ACA2664004933AGXTc.165+42G>A (n.165+42G>A)
n.185+42G>A
n.405+1161C>T
gnomAD v4
2g.240869072G=CA1339330848AGXTc.165+42G= (n.165+42G=)
n.185+42G=
n.405+1161C=
2g.240869072G>TCA2607663583AGXTc.165+42G>T (n.165+42G>T)
n.185+42G>T
n.405+1161C>A
dbSNP gnomAD v3 gnomAD v4
2g.240869072_240869073insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCCA1339330849AGXTc.165+42_165+43insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC (n.165+42_165+43insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC)
n.185+42_185+43insATCCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGC
n.405+1160_405+1161insGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGGAT
dbSNP
2g.240869072_240869073insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664004934AGXTc.165+42_165+43insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.165+42_165+43insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.185+42_185+43insGTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1160_405+1161insGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGAC
gnomAD v4
2g.240869073T=CA1339330850AGXTc.165+43T= (n.165+43T=)
n.185+43T=
n.405+1160A=
2g.240869073_240869074insCCCCACCCACAGACA1044064741AGXTc.165+43_165+44insCCCCACCCACAGA (n.165+43_165+44insCCCCACCCACAGA)
n.185+43_185+44insCCCCACCCACAGA
n.405+1159_405+1160insTCTGTGGGTGGGG
dbSNP
2g.240869074T>ACA275558AGXTc.165+44T>A (n.165+44T>A)
n.185+44T>A
n.405+1159A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869074T>CCA2581836826AGXTc.165+44T>C (n.165+44T>C)
n.185+44T>C
n.405+1159A>G
2g.240869074T>GCA2581836827AGXTc.165+44T>G (n.165+44T>G)
n.185+44T>G
n.405+1159A>C
2g.240869074T=CA1339330851AGXTc.165+44T= (n.165+44T=)
n.185+44T=
n.405+1159A=
2g.240869074_240869075insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACA2209006AGXTc.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (n.165+44_165+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA)
n.185+44_185+45insTCCACCCACAGATCACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGA
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869074_240869075insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACA2664005141AGXTc.165+44_165+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA (n.165+44_165+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA)
n.185+44_185+45insACCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGT
gnomAD v4
2g.240869075C=CA1339330852AGXTc.165+45C= (n.165+45C=)
n.185+45C=
n.405+1158G=
2g.240869075C>TCA2209008AGXTc.165+45C>T (n.165+45C>T)
n.185+45C>T
n.405+1158G>A
dbSNP ExAC
2g.240869075_240869076insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCA1044064831AGXTc.165+45_165+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC (n.165+45_165+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC)
n.185+45_185+46insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTAC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTG
dbSNP
2g.240869076_240869077insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA1339330853AGXTc.165+46_165+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC (n.165+46_165+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC)
n.185+46_185+47insTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGG
dbSNP gnomAD v4
2g.240869078_240869079insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACA2664005091AGXTc.165+48_165+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA (n.165+48_165+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA)
n.185+48_185+49insACCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGTTGGG
gnomAD v4
2g.240869079_240869080insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCA1044064792AGXTc.165+49_165+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC (n.165+49_165+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC)
n.185+49_185+50insTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCAC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGAGTGGG
gnomAD v3 gnomAD v4
2g.240869080_240869081insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA2664005139AGXTc.165+50_165+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC (n.165+50_165+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC)
n.185+50_185+51insAACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTTGGTGGG
gnomAD v4
2g.240869081_240869082insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCCA2740381935AGXTc.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC (n.165+51_165+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC)
n.185+51_185+52insGCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGCGGGTGGG
2g.240869081_240869082insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCCA2514690812AGXTc.165+51_165+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC (n.165+51_165+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC)
n.185+51_185+52insCCAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGGGGGTGGG
2g.240869082_240869083insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACA2664005076AGXTc.165+52_165+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA (n.165+52_165+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA)
n.185+52_185+53insTAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTATGGGTGGG
gnomAD v4
2g.240869083_240869084insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCA2664005077AGXTc.165+53_165+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC (n.165+53_165+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC)
n.185+53_185+54insCGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCAATCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCAC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGATTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCGGTGGGTGGG
gnomAD v4
2g.240869085_240869086insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCA2664005079AGXTc.165+55_165+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG)
n.185+55_185+56insGTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGACCTGTGGGTGGG
gnomAD v4
2g.240869085_240869086insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCA2664005084AGXTc.165+55_165+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG)
n.185+55_185+56insCTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAGCTGTGGGTGGG
gnomAD v4
2g.240869085_240869086insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCA2664005078AGXTc.165+55_165+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG (n.165+55_165+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG)
n.185+55_185+56insTTCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAACTGTGGGTGGG
gnomAD v4
2g.240869086_240869087insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGACA916813751AGXTc.165+56_165+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA (n.165+56_165+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA)
n.185+56_185+57insGCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGCTCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869086_240869087insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGACA2664005137AGXTc.165+56_165+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA (n.165+56_165+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA)
n.185+56_185+57insCCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGGTCTGTGGGTGGG
gnomAD v4
2g.240869088_240869089insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2664005131AGXTc.165+58_165+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCCTTCCGTGATCTGTGGGTGGG
gnomAD v4
2g.240869088_240869089insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA1044064830AGXTc.165+58_165+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCTCTTCCGTGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2607663585AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869088_240869089insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA1044064825AGXTc.165+58_165+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insAGGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCCTGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA1044064827AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGAGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCTCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA1044064828AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2209005AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA1044064826AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCAGTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGACTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2664005132AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCTGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCAGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA1044064829AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGTCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2209007AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
ExAC gnomAD v4
2g.240869088_240869089insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2664005134AGXTc.165+58_165+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCTTCCGTGATCTGTGGGTGGG
gnomAD v4
2g.240869088_240869089insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2754891892AGXTc.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insATGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCATGATCTGTGGGTGGG
2g.240869088_240869089insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCCA2664005133AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC (n.165+58_165+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC)
n.185+58_185+59insACGGAAGAGGGGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTCCCCTCTTCCGTGATCTGTGGGTGGG
gnomAD v4
2g.240869089_240869090insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGCA2664005125AGXTc.165+59_165+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG (n.165+59_165+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG)
n.185+59_185+60insGGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCCCGATCTGTGGGTGGG
gnomAD v4
2g.240869089_240869090insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGCA2664005130AGXTc.165+59_165+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG (n.165+59_165+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG)
n.185+59_185+60insAGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCTCGATCTGTGGGTGGG
gnomAD v4
2g.240869091_240869092insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGCA2664005120AGXTc.165+61_165+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG (n.165+61_165+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG)
n.185+61_185+62insAACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTTCACGATCTGTGGGTGGG
gnomAD v4
2g.240869091_240869092insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGCA2664005085AGXTc.165+61_165+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG (n.165+61_165+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG)
n.185+61_185+62insTACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTACACGATCTGTGGGTGGG
gnomAD v4
2g.240869092_240869093insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCA1044064798AGXTc.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (n.165+62_165+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG)
n.185+62_185+63insCCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGGCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869092_240869093insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCA2664005075AGXTc.165+62_165+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG (n.165+62_165+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG)
n.185+62_185+63insGCGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGCCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869093_240869094insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACA1044064800AGXTc.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA (n.165+63_165+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA)
n.185+63_185+64insTGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCATCCACGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869095_240869096insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGCA2664005094AGXTc.165+65_165+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG (n.165+65_165+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG)
n.185+65_185+66insGGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCCCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869096_240869097insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGACA2664005096AGXTc.165+66_165+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA (n.165+66_165+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA)
n.185+66_185+67insTGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCATCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869098_240869099insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGCA2664005116AGXTc.165+68_165+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG (n.165+68_165+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG)
n.185+68_185+69insAAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTTCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869098_240869099insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGCA2664005198AGXTc.165+68_165+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG (n.165+68_165+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG)
n.185+68_185+69insCAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTGCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869099_240869100insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGCA2664005098AGXTc.165+69_166-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG (n.165+69_166-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG)
n.185+69_186-70insGAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTCCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869100_240869101insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACA2664005109AGXTc.166-70_166-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA)
n.186-70_186-69insCGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCGTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869100_240869101insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACA2664005105AGXTc.166-70_166-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA)
n.186-70_186-69insTGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCATCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869100_240869101insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACA1044064803AGXTc.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA (n.166-70_166-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA)
n.186-70_186-69insGGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869101_240869102insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAACA2664005149AGXTc.166-69_166-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA (n.166-69_166-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA)
n.186-69_186-68insAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAA
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869103_240869104insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGCA2754891891AGXTc.166-67_166-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG)
n.186-67_186-66insCGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCGCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869103_240869104insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGCA2664005195AGXTc.166-67_166-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG)
n.186-67_186-66insAGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCTCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869103_240869104insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGCA2664005111AGXTc.166-67_166-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG)
n.186-67_186-66insTGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCACCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869103_240869104insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGCA1044064807AGXTc.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG (n.166-67_166-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG)
n.186-67_186-66insTGGGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCACCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869105_240869106insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGCA1044064823AGXTc.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG)
n.186-65_186-64insCTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAGCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869105_240869106insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGCA1044064824AGXTc.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG)
n.186-65_186-64insATCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGATCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869105_240869106insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGCA1044064811AGXTc.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG (n.166-65_166-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG)
n.186-65_186-64insTTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAACCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869106_240869107insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGCA2664005191AGXTc.166-64_166-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG)
n.186-64_186-63insACACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGTCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869106_240869107insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGCA1044064822AGXTc.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG)
n.186-64_186-63insGCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869106_240869107insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGCA2664005188AGXTc.166-64_166-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG)
n.186-64_186-63insCCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGGCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869106_240869107insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGCA2664005180AGXTc.166-64_166-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG)
n.186-64_186-63insCCTCTGCGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGAGGCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869106_240869107insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGCA2664005173AGXTc.166-64_166-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG (n.166-64_166-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG)
n.186-64_186-63insGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGG
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869110_240869111insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACCA1044064789AGXTc.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (n.166-60_166-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC)
n.186-60_186-59insCGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCGGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869110_240869111insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACCA2664005201AGXTc.166-60_166-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC (n.166-60_166-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC)
n.186-60_186-59insGGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCAC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCCGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005146AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005154AGXTc.166-57_166-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005164AGXTc.166-57_166-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACGCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGCGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005060AGXTc.166-57_166-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGGCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTCAGACCCAGCCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005151AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGATCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGATCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2505547104AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGCCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGGCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005170AGXTc.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insGTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGACGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064821AGXTc.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTCCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGGAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2754891890AGXTc.166-57_166-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCACACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGTGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064814AGXTc.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCTCTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGAGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005158AGXTc.166-57_166-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGACCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGTCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005073AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCCCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGGGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005069AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACACCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGTGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005161AGXTc.166-57_166-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCAGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCTGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005062AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTTTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAAACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005064AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCATCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGATGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064815AGXTc.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTTGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCAAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005068AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCACTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGTGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005059AGXTc.166-57_166-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGTCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGACCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA540752881AGXTc.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTGCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGCAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP gnomAD v2
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005071AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCAACCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGTTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064816AGXTc.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2754891888AGXTc.166-57_166-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGTGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCACGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
2g.240869113_240869114insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005056AGXTc.166-57_166-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGTGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCACCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005063AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTGACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTCAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA1044064820AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGGCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGCCCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005066AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTATACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTATAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2209004AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005052AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCTCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGAGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005065AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTTTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTAAAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005061AGXTc.166-57_166-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1158_405+1159insTACAGGGGTGAGACCCAGGCCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
gnomAD v4
2g.240869076C>TCA2664005244AGXTc.165+46C>T (n.165+46C>T)
n.185+46C>T
n.405+1157G>A
gnomAD v4
2g.240869077_240869078insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCA647781043AGXTc.165+47_165+48insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC (n.165+47_165+48insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC)
n.185+47_185+48insCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACC
n.405+1157_405+1158insTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGG
COSMIC
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005250AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTATCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1157_405+1158insATACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005253AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACACACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1156_405+1157insTGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTG
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005256AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCTACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1155_405+1156insAGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGT
gnomAD v4
2g.240869079C>ACA2664005260AGXTc.165+49C>A (n.165+49C>A)
n.185+49C>A
n.405+1154G>T
gnomAD v4
2g.240869081delCA2664005257AGXTc.165+51del (n.165+51del)
n.185+51del
n.405+1154del
gnomAD v4
2g.240869080C>ACA2664005264AGXTc.165+50C>A (n.165+50C>A)
n.185+50C>A
n.405+1153G>T
gnomAD v4
2g.240869080C>TCA2664005266AGXTc.165+50C>T (n.165+50C>T)
n.185+50C>T
n.405+1153G>A
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2510054526AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCATCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1153_405+1154insATGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGG
2g.240869081C>ACA2664005273AGXTc.165+51C>A (n.165+51C>A)
n.185+51C>A
n.405+1152G>T
gnomAD v4
2g.240869081C=CA1339330854AGXTc.165+51C= (n.165+51C=)
n.185+51C=
n.405+1152G=
2g.240869081C>TCA2209009AGXTc.165+51C>T (n.165+51C>T)
n.185+51C>T
n.405+1152G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005270AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACTCACAGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1152_405+1153insAGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTG
gnomAD v4
2g.240869083C=CA1339330855AGXTc.165+53C= (n.165+53C=)
n.185+53C=
n.405+1150G=
2g.240869083C>GCA766960524AGXTc.165+53C>G (n.165+53C>G)
n.185+53C>G
n.405+1150G>C
dbSNP
2g.240869084A=CA1339330856AGXTc.165+54A= (n.165+54A=)
n.185+54A=
n.405+1149T=
2g.240869084A>GCA766960526AGXTc.165+54A>G (n.165+54A>G)
n.185+54A>G
n.405+1149T>C
dbSNP
2g.240869085G>ACA68173611AGXTc.165+55G>A (n.165+55G>A)
n.185+55G>A
n.405+1148C>T
dbSNP gnomAD v4
2g.240869085G=CA1339330857AGXTc.165+55G= (n.165+55G=)
n.185+55G=
n.405+1148C=
2g.240869085G>TCA1339330858AGXTc.165+55G>T (n.165+55G>T)
n.185+55G>T
n.405+1148C>A
dbSNP
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005279AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACGGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1148_405+1149insCGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATC
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005276AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACCGATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1148_405+1149insGGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGATC
gnomAD v4
2g.240869086A>GCA2664005281AGXTc.165+56A>G (n.165+56A>G)
n.185+56A>G
n.405+1147T>C
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGCCA2664005280AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACATATCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1147_405+1148insATGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGAT
gnomAD v4
2g.240869087T>ACA540752882AGXTc.165+57T>A (n.165+57T>A)
n.185+57T>A
n.405+1146A>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869087T=CA1339330859AGXTc.165+57T= (n.165+57T=)
n.185+57T=
n.405+1146A=
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGCCA1044064832AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGCTCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1146_405+1147insGCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACGA
gnomAD v3 gnomAD v4
2g.240869088C=CA1339330860AGXTc.165+58C= (n.165+58C=)
n.185+58C=
n.405+1145G=
2g.240869088C>TCA540752883AGXTc.165+58C>T (n.165+58C>T)
n.185+58C>T
n.405+1145G>A
dbSNP gnomAD v2 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGCCA2664005283AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGTGGACGAGGGAAGGGGGTCACTGC
n.405+1145_405+1146insCTCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCACG
gnomAD v4
2g.240869088_240869089insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATTCA1044064833AGXTc.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT (n.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT)
n.185+58_185+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATT
n.405+1144_405+1145insAATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCTCCCCTCTTCCGT
dbSNP gnomAD v3 gnomAD v4
2g.240869089G>ACA68173613AGXTc.165+59G>A (n.165+59G>A)
n.185+59G>A
n.405+1144C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869089G>CCA2664005289AGXTc.165+59G>C (n.165+59G>C)
n.185+59G>C
n.405+1144C>G
gnomAD v4
2g.240869089G=CA1339330861AGXTc.165+59G= (n.165+59G=)
n.185+59G=
n.405+1144C=
2g.240869089_240869090delinsACCA68173635AGXTc.165+59_165+60delinsAC (n.165+59_165+60delinsAC)
n.185+59_185+60delinsAC
n.405+1143_405+1144delinsGT
dbSNP
2g.240869089_240869090delinsGTCA1339330862AGXTc.165+59_165+60delinsGT (n.165+59_165+60delinsGT)
n.185+59_185+60delinsGT
n.405+1143_405+1144delinsAC
2g.240869089_240869092delCA1044064834AGXTc.165+59_165+62del (n.165+59_165+62del)
n.185+59_185+62del
n.405+1141_405+1144del
gnomAD v3 gnomAD v4
2g.240869090T>CCA540752884AGXTc.165+60T>C (n.165+60T>C)
n.185+60T>C
n.405+1143A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869090T>GCA766960541AGXTc.165+60T>G (n.165+60T>G)
n.185+60T>G
n.405+1143A>C
dbSNP
2g.240869090T=CA1339330863AGXTc.165+60T= (n.165+60T=)
n.185+60T=
n.405+1143A=
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGCCA2664005295AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCATGGACGAGGGAAGGGGGTCACTGC
n.405+1143_405+1144insTGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCA
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGCCA2664005294AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCTTGGACGAGGGAAGGGGGTCACTGC
n.405+1143_405+1144insAGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCGTCCA
gnomAD v4
2g.240869091G>ACA2664005297AGXTc.165+61G>A (n.165+61G>A)
n.185+61G>A
n.405+1142C>T
gnomAD v4
2g.240869092G>ACA2577302117AGXTc.165+62G>A (n.165+62G>A)
n.185+62G>A
n.405+1141C>T
2g.240869094C>ACA68173639AGXTc.165+64C>A (n.165+64C>A)
n.185+64C>A
n.405+1139G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869094C=CA1339330864AGXTc.165+64C= (n.165+64C=)
n.185+64C=
n.405+1139G=
2g.240869094C>TCA766960545AGXTc.165+64C>T (n.165+64C>T)
n.185+64C>T
n.405+1139G>A
dbSNP gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGCCA2754891895AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCACTGC
n.405+1139_405+1140insGCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCG
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGCCA2664005302AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGTCGAGGGAAGGGGGTCACTGC
n.405+1139_405+1140insACCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTCG
gnomAD v4
2g.240869095G>ACA68173641AGXTc.165+65G>A (n.165+65G>A)
n.185+65G>A
n.405+1138C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869095G=CA1339330865AGXTc.165+65G= (n.165+65G=)
n.185+65G=
n.405+1138C=
2g.240869096_240869098delCA2664005305AGXTc.165+66_165+68del (n.165+66_165+68del)
n.185+66_185+68del
n.405+1136_405+1138del
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGCCA2754891897AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGATGAGGGAAGGGGGTCACTGC
n.405+1138_405+1139insATCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCCTTCCCTC
2g.240869096A=CA1339330867AGXTc.165+66A= (n.165+66A=)
n.185+66A=
n.405+1137T=
2g.240869096A>GCA2664005313AGXTc.165+66A>G (n.165+66A>G)
n.185+66A>G
n.405+1137T>C
gnomAD v4
2g.240869096A>TCA1044064837AGXTc.165+66A>T (n.165+66A>T)
n.185+66A>T
n.405+1137T>A
dbSNP gnomAD v3 gnomAD v4
2g.240869096_240869097delinsAGCA1339330866AGXTc.165+66_165+67delinsAG (n.165+66_165+67delinsAG)
n.185+66_185+67delinsAG
n.405+1136_405+1137delinsCT
2g.240869097G>ACA540752885AGXTc.165+67G>A (n.165+67G>A)
n.185+67G>A
n.405+1136C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869097G=CA1339330868AGXTc.165+67G= (n.165+67G=)
n.185+67G=
n.405+1136C=
2g.240869097G>TCA2577302121AGXTc.165+67G>T (n.165+67G>T)
n.185+67G>T
n.405+1136C>A
2g.240869099delCA766960547AGXTc.165+69del (n.165+69del)
n.185+69del
n.405+1136del
dbSNP
2g.240869099_240869102delinsGAAGCA1339330869AGXTc.165+69_166-68delinsGAAG (n.165+69_166-68delinsGAAG)
n.185+69_186-68delinsGAAG
n.405+1131_405+1134delinsCTTC
2g.240869100A=CA1339330870AGXTc.166-70A= (n.166-70A=)
n.186-70A=
n.405+1133T=
2g.240869100A>GCA540752886AGXTc.166-70A>G (n.166-70A>G)
n.186-70A>G
n.405+1133T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869100_240869102delinsGACA68173644AGXTc.166-70_166-68delinsGA (n.166-70_166-68delinsGA)
n.186-70_186-68delinsGA
n.405+1131_405+1133delinsTC
dbSNP
2g.240869101A>CCA2664005318AGXTc.166-69A>C (n.166-69A>C)
n.186-69A>C
n.405+1132T>G
gnomAD v4
2g.240869101A>GCA2754891898AGXTc.166-69A>G (n.166-69A>G)
n.186-69A>G
n.405+1132T>C
2g.240869101_240869102delinsAGCA1339330871AGXTc.166-69_166-68delinsAG (n.166-69_166-68delinsAG)
n.186-69_186-68delinsAG
n.405+1131_405+1132delinsCT
2g.240869102G>ACA766960553AGXTc.166-68G>A (n.166-68G>A)
n.186-68G>A
n.405+1131C>T
dbSNP
2g.240869102G=CA1339330872AGXTc.166-68G= (n.166-68G=)
n.186-68G=
n.405+1131C=
2g.240869106delCA68173646AGXTc.166-64del (n.166-64del)
n.186-64del
n.405+1131del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGCCA2664005323AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGACGGGGGTCACTGC
n.405+1131_405+1132insGTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCCC
gnomAD v4
2g.240869103G>ACA68173648AGXTc.166-67G>A (n.166-67G>A)
n.186-67G>A
n.405+1130C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869103G=CA1339330873AGXTc.166-67G= (n.166-67G=)
n.186-67G=
n.405+1130C=
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGCCA1044064843AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGAAAGGGGTCACTGC
n.405+1130_405+1131insTTTCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGACCCC
dbSNP gnomAD v3 gnomAD v4
2g.240869105_240869108dupCA2664005335AGXTc.166-65_166-62dup (n.166-65_166-62dup)
n.186-65_186-62dup
n.405+1125_405+1128dup
gnomAD v4
2g.240869106G>ACA766960554AGXTc.166-64G>A (n.166-64G>A)
n.186-64G>A
n.405+1127C>T
dbSNP gnomAD v4
2g.240869106G=CA1339330874AGXTc.166-64G= (n.166-64G=)
n.186-64G=
n.405+1127C=
2g.240869106G>TCA1339330875AGXTc.166-64G>T (n.166-64G>T)
n.186-64G>T
n.405+1127C>A
dbSNP gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGCCA2557481665AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGAGTCACTGC
n.405+1127_405+1128insTCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTGAC
2g.240869108C>ACA2664005347AGXTc.166-62C>A (n.166-62C>A)
n.186-62C>A
n.405+1125G>T
gnomAD v4
2g.240869108C=CA1339330876AGXTc.166-62C= (n.166-62C=)
n.186-62C=
n.405+1125G=
2g.240869108C>TCA540752887AGXTc.166-62C>T (n.166-62C>T)
n.186-62C>T
n.405+1125G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGCCA1044064847AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGGCACTGC
n.405+1125_405+1126insCCCCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAGTG
gnomAD v3 gnomAD v4
2g.240869110C>TCA2664005355AGXTc.166-60C>T (n.166-60C>T)
n.186-60C>T
n.405+1123G>A
gnomAD v4
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGCCA2754891900AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGAGCGGGGACGAGGGAAGGGGGGCCCTGC
n.405+1123_405+1124insGGCCCCCCTTCCCTCGTCCCCGCTCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCAG
2g.240869113_240869114insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGCCA2754891901AGXTc.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC (n.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC)
n.186-57_186-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGCCGAGGGAAGGGGGTCAGTGC
n.405+1122_405+1123insCTGACCCCCTTCCCTCGGCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAGGAAGCA
2g.240869112G>CCA766960561AGXTc.166-58G>C (n.166-58G>C)
n.186-58G>C
n.405+1121C>G
dbSNP gnomAD v3 gnomAD v4
2g.240869112G=CA1339330877AGXTc.166-58G= (n.166-58G=)
n.186-58G=
n.405+1121C=
2g.240869112G>TCA2664005359AGXTc.166-58G>T (n.166-58G>T)
n.186-58G>T
n.405+1121C>A
gnomAD v4
2g.240869113C>ACA2664005369AGXTc.166-57C>A (n.166-57C>A)
n.186-57C>A
n.405+1120G>T
gnomAD v4
2g.240869113C=CA1339330878AGXTc.166-57C= (n.166-57C=)
n.186-57C=
n.405+1120G=
2g.240869113C>TCA275555AGXTc.166-57C>T (n.166-57C>T)
n.186-57C>T
n.405+1120G>A
ClinVar dbSNP gnomAD v4
2g.240869113_240869114insTTCA2664005376AGXTc.166-57_166-56insTT (n.166-57_166-56insTT)
n.186-57_186-56insTT
n.405+1119_405+1120insAA
gnomAD v4
2g.240869114C=CA1339330879AGXTc.166-56C= (n.166-56C=)
n.186-56C=
n.405+1119G=
2g.240869114C>GCA2664005379AGXTc.166-56C>G (n.166-56C>G)
n.186-56C>G
n.405+1119G>C
gnomAD v4
2g.240869114C>TCA275556AGXTc.166-56C>T (n.166-56C>T)
n.186-56C>T
n.405+1119G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240869114_240869115insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCTCA2664005384AGXTc.166-56_166-55insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT (n.166-56_166-55insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT)
n.186-56_186-55insCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCT
n.405+1118_405+1119insAGCAGTGACCCCCTTCCCTCGTCCACGATCTGTGGGTGGGTACAGGGGTGAGACCCAGGCCCCCCGAGTGAG
gnomAD v4
2g.240869115T>CCA1339330881AGXTc.166-55T>C (n.166-55T>C)
n.186-55T>C
n.405+1118A>G
dbSNP
2g.240869115T=CA1339330880AGXTc.166-55T= (n.166-55T=)
n.186-55T=
n.405+1118A=
2g.240869116C=CA1339330882AGXTc.166-54C= (n.166-54C=)
n.186-54C=
n.405+1117G=
2g.240869116C>GCA1339330883AGXTc.166-54C>G (n.166-54C>G)
n.186-54C>G
n.405+1117G>C
dbSNP gnomAD v4
2g.240869116C>TCA275560AGXTc.166-54C>T (n.166-54C>T)
n.186-54C>T
n.405+1117G>A
ClinVar dbSNP gnomAD v4
2g.240869116_240869144delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGTCA1339330884AGXTc.166-54_166-26delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT (n.166-54_166-26delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT)
n.186-54_186-26delinsCCTCACTTGGGGAGGCGGGGAGCCTGGGT
n.405+1089_405+1117delinsACCCAGGCTCCCCGCCTCCCCAAGTGAGG
2g.240869122_240869149delCA1339330885AGXTc.166-48_166-21del (n.166-48_166-21del)
n.186-48_186-21del
n.405+1089_405+1116del
dbSNP gnomAD v4
2g.240869119C>TCA2664005396AGXTc.166-51C>T (n.166-51C>T)
n.186-51C>T
n.405+1114G>A
gnomAD v4
2g.240869120A>TCA2664005397AGXTc.166-50A>T (n.166-50A>T)
n.186-50A>T
n.405+1113T>A
gnomAD v4

Number of alleles fetched