Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117542016G>ACA273032CFTRc.1117G>A (p.Asp373Asn)
c.1207G>A (p.Asp403Asn)
c.874G>A (p.Asp292Asn)
n.1027G>A (p.Asp343Asn)
ClinVar dbSNP ExAC gnomAD COSMIC
7g.117542016G>CCA368979765CFTRc.1117G>C (p.Asp373His)
c.1207G>C (p.Asp403His)
c.874G>C (p.Asp292His)
n.1027G>C (p.Asp343His)
7g.117542016G>TCA368979766CFTRc.1117G>T (p.Asp373Tyr)
c.1207G>T (p.Asp403Tyr)
c.874G>T (p.Asp292Tyr)
n.1027G>T (p.Asp343Tyr)
gnomAD
7g.117542017A>CCA368979767CFTRc.1118A>C (p.Asp373Ala)
c.1208A>C (p.Asp403Ala)
c.875A>C (p.Asp292Ala)
n.1028A>C (p.Asp343Ala)
7g.117542017A>GCA368979768CFTRc.1118A>G (p.Asp373Gly)
c.1208A>G (p.Asp403Gly)
c.875A>G (p.Asp292Gly)
n.1028A>G (p.Asp343Gly)
7g.117542017A>TCA368979770CFTRc.1118A>T (p.Asp373Val)
c.1208A>T (p.Asp403Val)
c.875A>T (p.Asp292Val)
n.1028A>T (p.Asp343Val)
gnomAD
7g.117542018T>ACA368979776CFTRc.1119T>A (p.Asp373Glu)
c.1209T>A (p.Asp403Glu)
c.876T>A (p.Asp292Glu)
n.1029T>A (p.Asp343Glu)
7g.117542018T>CCA457227588CFTRc.1119T>C (p.Asp373=)
c.1209T>C (p.Asp403=)
c.876T>C (p.Asp292=)
n.1029T>C (p.Asp343=)
7g.117542018T>GCA368979773CFTRc.1119T>G (p.Asp373Glu)
c.1209T>G (p.Asp403Glu)
c.876T>G (p.Asp292Glu)
n.1029T>G (p.Asp343Glu)
7g.117542019T>ACA368979784CFTRc.1120T>A (p.Phe374Ile)
c.1210T>A (p.Phe404Ile)
c.877T>A (p.Phe293Ile)
n.1030T>A (p.Phe344Ile)
7g.117542019T>CCA368979785CFTRc.1120T>C (p.Phe374Leu)
c.1210T>C (p.Phe404Leu)
c.877T>C (p.Phe293Leu)
n.1030T>C (p.Phe344Leu)
7g.117542019T>GCA368979786CFTRc.1120T>G (p.Phe374Val)
c.1210T>G (p.Phe404Val)
c.877T>G (p.Phe293Val)
n.1030T>G (p.Phe344Val)
7g.117542020T>ACA368979787CFTRc.1121T>A (p.Phe374Tyr)
c.1211T>A (p.Phe404Tyr)
c.878T>A (p.Phe293Tyr)
n.1031T>A (p.Phe344Tyr)
7g.117542020T>CCA368979788CFTRc.1121T>C (p.Phe374Ser)
c.1211T>C (p.Phe404Ser)
c.878T>C (p.Phe293Ser)
n.1031T>C (p.Phe344Ser)
7g.117542020T>GCA368979789CFTRc.1121T>G (p.Phe374Cys)
c.1211T>G (p.Phe404Cys)
c.878T>G (p.Phe293Cys)
n.1031T>G (p.Phe344Cys)
7g.117542021C>ACA368979790CFTRc.1122C>A (p.Phe374Leu)
c.1212C>A (p.Phe404Leu)
c.879C>A (p.Phe293Leu)
n.1032C>A (p.Phe344Leu)
7g.117542021C>GCA368979791CFTRc.1122C>G (p.Phe374Leu)
c.1212C>G (p.Phe404Leu)
c.879C>G (p.Phe293Leu)
n.1032C>G (p.Phe344Leu)
7g.117542021C>TCA457227592CFTRc.1122C>T (p.Phe374=)
c.1212C>T (p.Phe404=)
c.879C>T (p.Phe293=)
n.1032C>T (p.Phe344=)
7g.117542022T>ACA368979793CFTRc.1123T>A (p.Leu375Ile)
c.1213T>A (p.Leu405Ile)
c.880T>A (p.Leu294Ile)
n.1033T>A (p.Leu345Ile)
7g.117542022T>CCA457227593CFTRc.1123T>C (p.Leu375=)
c.1213T>C (p.Leu405=)
c.880T>C (p.Leu294=)
n.1033T>C (p.Leu345=)
7g.117542022T>GCA368979796CFTRc.1123T>G (p.Leu375Val)
c.1213T>G (p.Leu405Val)
c.880T>G (p.Leu294Val)
n.1033T>G (p.Leu345Val)
7g.117542023T>ACA368979799CFTRc.1124T>A (p.Leu375Ter)
c.1214T>A (p.Leu405Ter)
c.881T>A (p.Leu294Ter)
n.1034T>A (p.Leu345Ter)
7g.117542023T>CCA368979801CFTRc.1124T>C (p.Leu375Ser)
c.1214T>C (p.Leu405Ser)
c.881T>C (p.Leu294Ser)
n.1034T>C (p.Leu345Ser)
7g.117542023T>GCA368979803CFTRc.1124T>G (p.Leu375Ter)
c.1214T>G (p.Leu405Ter)
c.881T>G (p.Leu294Ter)
n.1034T>G (p.Leu345Ter)
gnomAD
7g.117542024A>CCA326410CFTRc.1125A>C (p.Leu375Phe)
c.1215A>C (p.Leu405Phe)
c.882A>C (p.Leu294Phe)
n.1035A>C (p.Leu345Phe)
ClinVar dbSNP ExAC gnomAD
7g.117542024A>GCA457227595CFTRc.1125A>G (p.Leu375=)
c.1215A>G (p.Leu405=)
c.882A>G (p.Leu294=)
n.1035A>G (p.Leu345=)
7g.117542024A>TCA368979807CFTRc.1125A>T (p.Leu375Phe)
c.1215A>T (p.Leu405Phe)
c.882A>T (p.Leu294Phe)
n.1035A>T (p.Leu345Phe)
7g.117542025C>ACA368979818CFTRc.1126C>A (p.Gln376Lys)
c.1216C>A (p.Gln406Lys)
c.883C>A (p.Gln295Lys)
n.1036C>A (p.Gln346Lys)
7g.117542025C>GCA368979811CFTRc.1126C>G (p.Gln376Glu)
c.1216C>G (p.Gln406Glu)
c.883C>G (p.Gln295Glu)
n.1036C>G (p.Gln346Glu)
7g.117542025C>TCA368979815CFTRc.1126C>T (p.Gln376Ter)
c.1216C>T (p.Gln406Ter)
c.883C>T (p.Gln295Ter)
n.1036C>T (p.Gln346Ter)
ClinVar
7g.117542026A>CCA368979820CFTRc.1127A>C (p.Gln376Pro)
c.1217A>C (p.Gln406Pro)
c.884A>C (p.Gln295Pro)
n.1037A>C (p.Gln346Pro)
7g.117542026A>GCA368979822CFTRc.1127A>G (p.Gln376Arg)
c.1217A>G (p.Gln406Arg)
c.884A>G (p.Gln295Arg)
n.1037A>G (p.Gln346Arg)
7g.117542026A>TCA368979831CFTRc.1127A>T (p.Gln376Leu)
c.1217A>T (p.Gln406Leu)
c.884A>T (p.Gln295Leu)
n.1037A>T (p.Gln346Leu)
7g.117542029dupCA328080CFTRc.1130dup (p.Gln378AlafsTer4)
c.1220dup (p.Gln408AlafsTer4)
c.887dup (p.Gln297AlafsTer4)
n.1040dup (p.Gln348AlafsTer4)
ClinVar dbSNP dbSNP
7g.117542027A>CCA368979833CFTRc.1128A>C (p.Gln376His)
c.1218A>C (p.Gln406His)
c.885A>C (p.Gln295His)
n.1038A>C (p.Gln346His)
7g.117542027A>GCA457227597CFTRc.1128A>G (p.Gln376=)
c.1218A>G (p.Gln406=)
c.885A>G (p.Gln295=)
n.1038A>G (p.Gln346=)
7g.117542027A>TCA368979835CFTRc.1128A>T (p.Gln376His)
c.1218A>T (p.Gln406His)
c.885A>T (p.Gln295His)
n.1038A>T (p.Gln346His)
7g.117542028A>CCA368979839CFTRc.1129A>C (p.Lys377Gln)
c.1219A>C (p.Lys407Gln)
c.886A>C (p.Lys296Gln)
n.1039A>C (p.Lys347Gln)
7g.117542028A>GCA368979841CFTRc.1129A>G (p.Lys377Glu)
c.1219A>G (p.Lys407Glu)
c.886A>G (p.Lys296Glu)
n.1039A>G (p.Lys347Glu)
7g.117542028A>TCA368979846CFTRc.1129A>T (p.Lys377Ter)
c.1219A>T (p.Lys407Ter)
c.886A>T (p.Lys296Ter)
n.1039A>T (p.Lys347Ter)
7g.117542029A>CCA368979848CFTRc.1130A>C (p.Lys377Thr)
c.1220A>C (p.Lys407Thr)
c.887A>C (p.Lys296Thr)
n.1040A>C (p.Lys347Thr)
7g.117542029A>GCA368979852CFTRc.1130A>G (p.Lys377Arg)
c.1220A>G (p.Lys407Arg)
c.887A>G (p.Lys296Arg)
n.1040A>G (p.Lys347Arg)
7g.117542029A>TCA368979855CFTRc.1130A>T (p.Lys377Met)
c.1220A>T (p.Lys407Met)
c.887A>T (p.Lys296Met)
n.1040A>T (p.Lys347Met)
7g.117542030G>ACA457227598CFTRc.1131G>A (p.Lys377=)
c.1221G>A (p.Lys407=)
c.888G>A (p.Lys296=)
n.1041G>A (p.Lys347=)
7g.117542030G>CCA368979860CFTRc.1131G>C (p.Lys377Asn)
c.1221G>C (p.Lys407Asn)
c.888G>C (p.Lys296Asn)
n.1041G>C (p.Lys347Asn)
7g.117542030G>TCA368979864CFTRc.1131G>T (p.Lys377Asn)
c.1221G>T (p.Lys407Asn)
c.888G>T (p.Lys296Asn)
n.1041G>T (p.Lys347Asn)
7g.117542031C>ACA368979869CFTRc.1132C>A (p.Gln378Lys)
c.1222C>A (p.Gln408Lys)
c.889C>A (p.Gln297Lys)
n.1042C>A (p.Gln348Lys)
7g.117542031C>GCA368979865CFTRc.1132C>G (p.Gln378Glu)
c.1222C>G (p.Gln408Glu)
c.889C>G (p.Gln297Glu)
n.1042C>G (p.Gln348Glu)
7g.117542031C>TCA368979866CFTRc.1132C>T (p.Gln378Ter)
c.1222C>T (p.Gln408Ter)
c.889C>T (p.Gln297Ter)
n.1042C>T (p.Gln348Ter)
7g.117542032A>CCA368979872CFTRc.1133A>C (p.Gln378Pro)
c.1223A>C (p.Gln408Pro)
c.890A>C (p.Gln297Pro)
n.1043A>C (p.Gln348Pro)

Number of alleles fetched