| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117542016G>A | CA273032 | CFTR | c.1117G>A (p.Asp373Asn) c.*1014G>A (n.*1014G>A) c.*941G>A (n.*941G>A) c.874G>A (p.Asp292Asn) c.1027G>A (p.Asp343Asn) c.1207G>A (p.Asp403Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117542016G>C | CA368979765 | CFTR | c.1117G>C (p.Asp373His) c.*1014G>C (n.*1014G>C) c.*941G>C (n.*941G>C) c.874G>C (p.Asp292His) c.1027G>C (p.Asp343His) c.1207G>C (p.Asp403His) | |
| 7 | g.117542016G= | CA1737334880 | CFTR | c.1117G= (p.Asp373=) c.*1014G= (n.*1014G=) c.*941G= (n.*941G=) c.874G= (p.Asp292=) c.1027G= (p.Asp343=) c.1207G= (p.Asp403=) | |
| 7 | g.117542016G>T | CA368979766 | CFTR | c.1117G>T (p.Asp373Tyr) c.*1014G>T (n.*1014G>T) c.*941G>T (n.*941G>T) c.874G>T (p.Asp292Tyr) c.1027G>T (p.Asp343Tyr) c.1207G>T (p.Asp403Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117542017A= | CA1737334883 | CFTR | c.1118A= (p.Asp373=) c.*1015A= (n.*1015A=) c.*942A= (n.*942A=) c.875A= (p.Asp292=) c.1028A= (p.Asp343=) c.1208A= (p.Asp403=) | |
| 7 | g.117542017A>C | CA368979767 | CFTR | c.1118A>C (p.Asp373Ala) c.*1015A>C (n.*1015A>C) c.*942A>C (n.*942A>C) c.875A>C (p.Asp292Ala) c.1028A>C (p.Asp343Ala) c.1208A>C (p.Asp403Ala) | |
| 7 | g.117542017A>G | CA368979768 | CFTR | c.1118A>G (p.Asp373Gly) c.*1015A>G (n.*1015A>G) c.*942A>G (n.*942A>G) c.875A>G (p.Asp292Gly) c.1028A>G (p.Asp343Gly) c.1208A>G (p.Asp403Gly) | gnomAD v4 |
| 7 | g.117542017A>T | CA368979770 | CFTR | c.1118A>T (p.Asp373Val) c.*1015A>T (n.*1015A>T) c.*942A>T (n.*942A>T) c.875A>T (p.Asp292Val) c.1028A>T (p.Asp343Val) c.1208A>T (p.Asp403Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117542018T>A | CA368979776 | CFTR | c.1119T>A (p.Asp373Glu) c.*1016T>A (n.*1016T>A) c.*943T>A (n.*943T>A) c.876T>A (p.Asp292Glu) c.1029T>A (p.Asp343Glu) c.1209T>A (p.Asp403Glu) | |
| 7 | g.117542018T>C | CA457227588 | CFTR | c.1119T>C (p.Asp373=) c.*1016T>C (n.*1016T>C) c.*943T>C (n.*943T>C) c.876T>C (p.Asp292=) c.1029T>C (p.Asp343=) c.1209T>C (p.Asp403=) | gnomAD v4 |
| 7 | g.117542018T>G | CA368979773 | CFTR | c.1119T>G (p.Asp373Glu) c.*1016T>G (n.*1016T>G) c.*943T>G (n.*943T>G) c.876T>G (p.Asp292Glu) c.1029T>G (p.Asp343Glu) c.1209T>G (p.Asp403Glu) | ClinVar |
| 7 | g.117542019T>A | CA368979784 | CFTR | c.1120T>A (p.Phe374Ile) c.*1017T>A (n.*1017T>A) c.*944T>A (n.*944T>A) c.877T>A (p.Phe293Ile) c.1030T>A (p.Phe344Ile) c.1210T>A (p.Phe404Ile) | |
| 7 | g.117542019T>C | CA368979785 | CFTR | c.1120T>C (p.Phe374Leu) c.*1017T>C (n.*1017T>C) c.*944T>C (n.*944T>C) c.877T>C (p.Phe293Leu) c.1030T>C (p.Phe344Leu) c.1210T>C (p.Phe404Leu) | |
| 7 | g.117542019T>G | CA368979786 | CFTR | c.1120T>G (p.Phe374Val) c.*1017T>G (n.*1017T>G) c.*944T>G (n.*944T>G) c.877T>G (p.Phe293Val) c.1030T>G (p.Phe344Val) c.1210T>G (p.Phe404Val) | |
| 7 | g.117542020T>A | CA368979787 | CFTR | c.1121T>A (p.Phe374Tyr) c.*1018T>A (n.*1018T>A) c.*945T>A (n.*945T>A) c.878T>A (p.Phe293Tyr) c.1031T>A (p.Phe344Tyr) c.1211T>A (p.Phe404Tyr) | |
| 7 | g.117542020T>C | CA368979788 | CFTR | c.1121T>C (p.Phe374Ser) c.*1018T>C (n.*1018T>C) c.*945T>C (n.*945T>C) c.878T>C (p.Phe293Ser) c.1031T>C (p.Phe344Ser) c.1211T>C (p.Phe404Ser) | |
| 7 | g.117542020T>G | CA368979789 | CFTR | c.1121T>G (p.Phe374Cys) c.*1018T>G (n.*1018T>G) c.*945T>G (n.*945T>G) c.878T>G (p.Phe293Cys) c.1031T>G (p.Phe344Cys) c.1211T>G (p.Phe404Cys) | gnomAD v4 |
| 7 | g.117542021C>A | CA368979790 | CFTR | c.1122C>A (p.Phe374Leu) c.*1019C>A (n.*1019C>A) c.*946C>A (n.*946C>A) c.879C>A (p.Phe293Leu) c.1032C>A (p.Phe344Leu) c.1212C>A (p.Phe404Leu) | gnomAD v4 |
| 7 | g.117542021C>G | CA368979791 | CFTR | c.1122C>G (p.Phe374Leu) c.*1019C>G (n.*1019C>G) c.*946C>G (n.*946C>G) c.879C>G (p.Phe293Leu) c.1032C>G (p.Phe344Leu) c.1212C>G (p.Phe404Leu) | |
| 7 | g.117542021C>T | CA457227592 | CFTR | c.1122C>T (p.Phe374=) c.*1019C>T (n.*1019C>T) c.*946C>T (n.*946C>T) c.879C>T (p.Phe293=) c.1032C>T (p.Phe344=) c.1212C>T (p.Phe404=) | |
| 7 | g.117542022T>A | CA368979793 | CFTR | c.1123T>A (p.Leu375Ile) c.*1020T>A (n.*1020T>A) c.*947T>A (n.*947T>A) c.880T>A (p.Leu294Ile) c.1033T>A (p.Leu345Ile) c.1213T>A (p.Leu405Ile) | |
| 7 | g.117542022T>C | CA457227593 | CFTR | c.1123T>C (p.Leu375=) c.*1020T>C (n.*1020T>C) c.*947T>C (n.*947T>C) c.880T>C (p.Leu294=) c.1033T>C (p.Leu345=) c.1213T>C (p.Leu405=) | |
| 7 | g.117542022T>G | CA368979796 | CFTR | c.1123T>G (p.Leu375Val) c.*1020T>G (n.*1020T>G) c.*947T>G (n.*947T>G) c.880T>G (p.Leu294Val) c.1033T>G (p.Leu345Val) c.1213T>G (p.Leu405Val) | gnomAD v4 |
| 7 | g.117542023del | CA2684618295 | CFTR | c.1124del (p.Leu375TyrfsTer13) c.*1021del (n.*1021del) c.*948del (n.*948del) c.881del (p.Leu294TyrfsTer13) c.1034del (p.Leu345TyrfsTer13) c.1214del (p.Leu405TyrfsTer13) | gnomAD v4 |
| 7 | g.117542023T>A | CA368979799 | CFTR | c.1124T>A (p.Leu375Ter) c.*1021T>A (n.*1021T>A) c.*948T>A (n.*948T>A) c.881T>A (p.Leu294Ter) c.1034T>A (p.Leu345Ter) c.1214T>A (p.Leu405Ter) | |
| 7 | g.117542023T>C | CA368979801 | CFTR | c.1124T>C (p.Leu375Ser) c.*1021T>C (n.*1021T>C) c.*948T>C (n.*948T>C) c.881T>C (p.Leu294Ser) c.1034T>C (p.Leu345Ser) c.1214T>C (p.Leu405Ser) | gnomAD v4 |
| 7 | g.117542023T>G | CA368979803 | CFTR | c.1124T>G (p.Leu375Ter) c.*1021T>G (n.*1021T>G) c.*948T>G (n.*948T>G) c.881T>G (p.Leu294Ter) c.1034T>G (p.Leu345Ter) c.1214T>G (p.Leu405Ter) | dbSNP gnomAD v2 |
| 7 | g.117542023T= | CA1737334886 | CFTR | c.1124T= (p.Leu375=) c.*1021T= (n.*1021T=) c.*948T= (n.*948T=) c.881T= (p.Leu294=) c.1034T= (p.Leu345=) c.1214T= (p.Leu405=) | |
| 7 | g.117542024A= | CA1737334891 | CFTR | c.1125A= (p.Leu375=) c.*1022A= (n.*1022A=) c.*949A= (n.*949A=) c.882A= (p.Leu294=) c.1035A= (p.Leu345=) c.1215A= (p.Leu405=) | |
| 7 | g.117542024A>C | CA326410 | CFTR | c.1125A>C (p.Leu375Phe) c.*1022A>C (n.*1022A>C) c.*949A>C (n.*949A>C) c.882A>C (p.Leu294Phe) c.1035A>C (p.Leu345Phe) c.1215A>C (p.Leu405Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117542024A>G | CA457227595 | CFTR | c.1125A>G (p.Leu375=) c.*1022A>G (n.*1022A>G) c.*949A>G (n.*949A>G) c.882A>G (p.Leu294=) c.1035A>G (p.Leu345=) c.1215A>G (p.Leu405=) | |
| 7 | g.117542024A>T | CA368979807 | CFTR | c.1125A>T (p.Leu375Phe) c.*1022A>T (n.*1022A>T) c.*949A>T (n.*949A>T) c.882A>T (p.Leu294Phe) c.1035A>T (p.Leu345Phe) c.1215A>T (p.Leu405Phe) | gnomAD v4 |
| 7 | g.117542025C>A | CA368979818 | CFTR | c.1126C>A (p.Gln376Lys) c.*1023C>A (n.*1023C>A) c.*950C>A (n.*950C>A) c.883C>A (p.Gln295Lys) c.1036C>A (p.Gln346Lys) c.1216C>A (p.Gln406Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117542025C= | CA1737334900 | CFTR | c.1126C= (p.Gln376=) c.*1023C= (n.*1023C=) c.*950C= (n.*950C=) c.883C= (p.Gln295=) c.1036C= (p.Gln346=) c.1216C= (p.Gln406=) | |
| 7 | g.117542025C>G | CA368979811 | CFTR | c.1126C>G (p.Gln376Glu) c.*1023C>G (n.*1023C>G) c.*950C>G (n.*950C>G) c.883C>G (p.Gln295Glu) c.1036C>G (p.Gln346Glu) c.1216C>G (p.Gln406Glu) | |
| 7 | g.117542025C>T | CA368979815 | CFTR | c.1126C>T (p.Gln376Ter) c.*1023C>T (n.*1023C>T) c.*950C>T (n.*950C>T) c.883C>T (p.Gln295Ter) c.1036C>T (p.Gln346Ter) c.1216C>T (p.Gln406Ter) | ClinVar dbSNP |
| 7 | g.117542026A>C | CA368979820 | CFTR | c.1127A>C (p.Gln376Pro) c.*1024A>C (n.*1024A>C) c.*951A>C (n.*951A>C) c.884A>C (p.Gln295Pro) c.1037A>C (p.Gln346Pro) c.1217A>C (p.Gln406Pro) | |
| 7 | g.117542026A>G | CA368979822 | CFTR | c.1127A>G (p.Gln376Arg) c.*1024A>G (n.*1024A>G) c.*951A>G (n.*951A>G) c.884A>G (p.Gln295Arg) c.1037A>G (p.Gln346Arg) c.1217A>G (p.Gln406Arg) | gnomAD v4 |
| 7 | g.117542026A>T | CA368979831 | CFTR | c.1127A>T (p.Gln376Leu) c.*1024A>T (n.*1024A>T) c.*951A>T (n.*951A>T) c.884A>T (p.Gln295Leu) c.1037A>T (p.Gln346Leu) c.1217A>T (p.Gln406Leu) | |
| 7 | g.117542029dup | CA328080 | CFTR | c.1130dup (p.Gln378AlafsTer4) c.*1027dup (n.*1027dup) c.*954dup (n.*954dup) c.887dup (p.Gln297AlafsTer4) c.1040dup (p.Gln348AlafsTer4) c.1220dup (p.Gln408AlafsTer4) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117542027A>C | CA368979833 | CFTR | c.1128A>C (p.Gln376His) c.*1025A>C (n.*1025A>C) c.*952A>C (n.*952A>C) c.885A>C (p.Gln295His) c.1038A>C (p.Gln346His) c.1218A>C (p.Gln406His) | |
| 7 | g.117542027A>G | CA457227597 | CFTR | c.1128A>G (p.Gln376=) c.*1025A>G (n.*1025A>G) c.*952A>G (n.*952A>G) c.885A>G (p.Gln295=) c.1038A>G (p.Gln346=) c.1218A>G (p.Gln406=) | |
| 7 | g.117542027A>T | CA368979835 | CFTR | c.1128A>T (p.Gln376His) c.*1025A>T (n.*1025A>T) c.*952A>T (n.*952A>T) c.885A>T (p.Gln295His) c.1038A>T (p.Gln346His) c.1218A>T (p.Gln406His) | |
| 7 | g.117542028A>C | CA368979839 | CFTR | c.1129A>C (p.Lys377Gln) c.*1026A>C (n.*1026A>C) c.*953A>C (n.*953A>C) c.886A>C (p.Lys296Gln) c.1039A>C (p.Lys347Gln) c.1219A>C (p.Lys407Gln) | |
| 7 | g.117542028A>G | CA368979841 | CFTR | c.1129A>G (p.Lys377Glu) c.*1026A>G (n.*1026A>G) c.*953A>G (n.*953A>G) c.886A>G (p.Lys296Glu) c.1039A>G (p.Lys347Glu) c.1219A>G (p.Lys407Glu) | |
| 7 | g.117542028A>T | CA368979846 | CFTR | c.1129A>T (p.Lys377Ter) c.*1026A>T (n.*1026A>T) c.*953A>T (n.*953A>T) c.886A>T (p.Lys296Ter) c.1039A>T (p.Lys347Ter) c.1219A>T (p.Lys407Ter) | |
| 7 | g.117542029A>C | CA368979848 | CFTR | c.1130A>C (p.Lys377Thr) c.*1027A>C (n.*1027A>C) c.*954A>C (n.*954A>C) c.887A>C (p.Lys296Thr) c.1040A>C (p.Lys347Thr) c.1220A>C (p.Lys407Thr) | |
| 7 | g.117542029A>G | CA368979852 | CFTR | c.1130A>G (p.Lys377Arg) c.*1027A>G (n.*1027A>G) c.*954A>G (n.*954A>G) c.887A>G (p.Lys296Arg) c.1040A>G (p.Lys347Arg) c.1220A>G (p.Lys407Arg) | |
| 7 | g.117542029A>T | CA368979855 | CFTR | c.1130A>T (p.Lys377Met) c.*1027A>T (n.*1027A>T) c.*954A>T (n.*954A>T) c.887A>T (p.Lys296Met) c.1040A>T (p.Lys347Met) c.1220A>T (p.Lys407Met) | |
| 7 | g.117542030G>A | CA457227598 | CFTR | c.1131G>A (p.Lys377=) c.*1028G>A (n.*1028G>A) c.*955G>A (n.*955G>A) c.888G>A (p.Lys296=) c.1041G>A (p.Lys347=) c.1221G>A (p.Lys407=) | ClinVar gnomAD v4 |