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 |
7 | g.117542030G>C | CA368979860 | CFTR | c.1131G>C (p.Lys377Asn) c.*1028G>C (n.*1028G>C) c.*955G>C (n.*955G>C) c.888G>C (p.Lys296Asn) c.1041G>C (p.Lys347Asn) c.1221G>C (p.Lys407Asn) | |
7 | g.117542030G>T | CA368979864 | CFTR | c.1131G>T (p.Lys377Asn) c.*1028G>T (n.*1028G>T) c.*955G>T (n.*955G>T) c.888G>T (p.Lys296Asn) c.1041G>T (p.Lys347Asn) c.1221G>T (p.Lys407Asn) | |
7 | g.117542031C>A | CA368979869 | CFTR | c.1132C>A (p.Gln378Lys) c.*1029C>A (n.*1029C>A) c.*956C>A (n.*956C>A) c.889C>A (p.Gln297Lys) c.1042C>A (p.Gln348Lys) c.1222C>A (p.Gln408Lys) | gnomAD v4 |
7 | g.117542031C>G | CA368979865 | CFTR | c.1132C>G (p.Gln378Glu) c.*1029C>G (n.*1029C>G) c.*956C>G (n.*956C>G) c.889C>G (p.Gln297Glu) c.1042C>G (p.Gln348Glu) c.1222C>G (p.Gln408Glu) | |
7 | g.117542031C>T | CA368979866 | CFTR | c.1132C>T (p.Gln378Ter) c.*1029C>T (n.*1029C>T) c.*956C>T (n.*956C>T) c.889C>T (p.Gln297Ter) c.1042C>T (p.Gln348Ter) c.1222C>T (p.Gln408Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117542032A= | CA1737334920 | CFTR | c.1133A= (p.Gln378=) c.*1030A= (n.*1030A=) c.*957A= (n.*957A=) c.890A= (p.Gln297=) c.1043A= (p.Gln348=) c.1223A= (p.Gln408=) | |
7 | g.117542032A>C | CA368979872 | CFTR | c.1133A>C (p.Gln378Pro) c.*1030A>C (n.*1030A>C) c.*957A>C (n.*957A>C) c.890A>C (p.Gln297Pro) c.1043A>C (p.Gln348Pro) c.1223A>C (p.Gln408Pro) | |
7 | g.117542032A>G | CA4450907 | CFTR | c.1133A>G (p.Gln378Arg) c.*1030A>G (n.*1030A>G) c.*957A>G (n.*957A>G) c.890A>G (p.Gln297Arg) c.1043A>G (p.Gln348Arg) c.1223A>G (p.Gln408Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117542032A>T | CA368979876 | CFTR | c.1133A>T (p.Gln378Leu) c.*1030A>T (n.*1030A>T) c.*957A>T (n.*957A>T) c.890A>T (p.Gln297Leu) c.1043A>T (p.Gln348Leu) c.1223A>T (p.Gln408Leu) | |
7 | g.117542033A>C | CA368979879 | CFTR | c.1134A>C (p.Gln378His) c.*1031A>C (n.*1031A>C) c.*958A>C (n.*958A>C) c.891A>C (p.Gln297His) c.1044A>C (p.Gln348His) c.1224A>C (p.Gln408His) | |
7 | g.117542033A>G | CA457227600 | CFTR | c.1134A>G (p.Gln378=) c.*1031A>G (n.*1031A>G) c.*958A>G (n.*958A>G) c.891A>G (p.Gln297=) c.1044A>G (p.Gln348=) c.1224A>G (p.Gln408=) | gnomAD v4 |
7 | g.117542033A>T | CA368979880 | CFTR | c.1134A>T (p.Gln378His) c.*1031A>T (n.*1031A>T) c.*958A>T (n.*958A>T) c.891A>T (p.Gln297His) c.1044A>T (p.Gln348His) c.1224A>T (p.Gln408His) | |
7 | g.117542034G>A | CA326413 | CFTR | c.1135G>A (p.Glu379Lys) c.*1032G>A (n.*1032G>A) c.*959G>A (n.*959G>A) c.892G>A (p.Glu298Lys) c.1045G>A (p.Glu349Lys) c.1225G>A (p.Glu409Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.117542034G>C | CA368979882 | CFTR | c.1135G>C (p.Glu379Gln) c.*1032G>C (n.*1032G>C) c.*959G>C (n.*959G>C) c.892G>C (p.Glu298Gln) c.1045G>C (p.Glu349Gln) c.1225G>C (p.Glu409Gln) | |
7 | g.117542034G= | CA1737334925 | CFTR | c.1135G= (p.Glu379=) c.*1032G= (n.*1032G=) c.*959G= (n.*959G=) c.892G= (p.Glu298=) c.1045G= (p.Glu349=) c.1225G= (p.Glu409=) | |
7 | g.117542034G>T | CA326415 | CFTR | c.1135G>T (p.Glu379Ter) c.*1032G>T (n.*1032G>T) c.*959G>T (n.*959G>T) c.892G>T (p.Glu298Ter) c.1045G>T (p.Glu349Ter) c.1225G>T (p.Glu409Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542035A>C | CA368979886 | CFTR | c.1136A>C (p.Glu379Ala) c.*1033A>C (n.*1033A>C) c.*960A>C (n.*960A>C) c.893A>C (p.Glu298Ala) c.1046A>C (p.Glu349Ala) c.1226A>C (p.Glu409Ala) | |
7 | g.117542035A>G | CA368979889 | CFTR | c.1136A>G (p.Glu379Gly) c.*1033A>G (n.*1033A>G) c.*960A>G (n.*960A>G) c.893A>G (p.Glu298Gly) c.1046A>G (p.Glu349Gly) c.1226A>G (p.Glu409Gly) | ClinVar |
7 | g.117542035A>T | CA368979890 | CFTR | c.1136A>T (p.Glu379Val) c.*1033A>T (n.*1033A>T) c.*960A>T (n.*960A>T) c.893A>T (p.Glu298Val) c.1046A>T (p.Glu349Val) c.1226A>T (p.Glu409Val) | gnomAD v4 |
7 | g.117542036A= | CA1737334929 | CFTR | c.1137A= (p.Glu379=) c.*1034A= (n.*1034A=) c.*961A= (n.*961A=) c.894A= (p.Glu298=) c.1047A= (p.Glu349=) c.1227A= (p.Glu409=) | |
7 | g.117542036A>C | CA4450908 | CFTR | c.1137A>C (p.Glu379Asp) c.*1034A>C (n.*1034A>C) c.*961A>C (n.*961A>C) c.894A>C (p.Glu298Asp) c.1047A>C (p.Glu349Asp) c.1227A>C (p.Glu409Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542036A>G | CA457227604 | CFTR | c.1137A>G (p.Glu379=) c.*1034A>G (n.*1034A>G) c.*961A>G (n.*961A>G) c.894A>G (p.Glu298=) c.1047A>G (p.Glu349=) c.1227A>G (p.Glu409=) | ClinVar gnomAD v4 |
7 | g.117542036A>T | CA368979894 | CFTR | c.1137A>T (p.Glu379Asp) c.*1034A>T (n.*1034A>T) c.*961A>T (n.*961A>T) c.894A>T (p.Glu298Asp) c.1047A>T (p.Glu349Asp) c.1227A>T (p.Glu409Asp) | |
7 | g.117542037T>A | CA368979903 | CFTR | c.1138T>A (p.Tyr380Asn) c.*1035T>A (n.*1035T>A) c.*962T>A (n.*962T>A) c.895T>A (p.Tyr299Asn) c.1048T>A (p.Tyr350Asn) c.1228T>A (p.Tyr410Asn) | ClinVar |
7 | g.117542037T>C | CA368979900 | CFTR | c.1138T>C (p.Tyr380His) c.*1035T>C (n.*1035T>C) c.*962T>C (n.*962T>C) c.895T>C (p.Tyr299His) c.1048T>C (p.Tyr350His) c.1228T>C (p.Tyr410His) | |
7 | g.117542037T>G | CA368979897 | CFTR | c.1138T>G (p.Tyr380Asp) c.*1035T>G (n.*1035T>G) c.*962T>G (n.*962T>G) c.895T>G (p.Tyr299Asp) c.1048T>G (p.Tyr350Asp) c.1228T>G (p.Tyr410Asp) | |
7 | g.117542038A= | CA1737334962 | CFTR | c.1139A= (p.Tyr380=) c.*1036A= (n.*1036A=) c.*963A= (n.*963A=) c.896A= (p.Tyr299=) c.1049A= (p.Tyr350=) c.1229A= (p.Tyr410=) | |
7 | g.117542038A>C | CA368979904 | CFTR | c.1139A>C (p.Tyr380Ser) c.*1036A>C (n.*1036A>C) c.*963A>C (n.*963A>C) c.896A>C (p.Tyr299Ser) c.1049A>C (p.Tyr350Ser) c.1229A>C (p.Tyr410Ser) | |
7 | g.117542038A>G | CA4450909 | CFTR | c.1139A>G (p.Tyr380Cys) c.*1036A>G (n.*1036A>G) c.*963A>G (n.*963A>G) c.896A>G (p.Tyr299Cys) c.1049A>G (p.Tyr350Cys) c.1229A>G (p.Tyr410Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542038A>T | CA368979905 | CFTR | c.1139A>T (p.Tyr380Phe) c.*1036A>T (n.*1036A>T) c.*963A>T (n.*963A>T) c.896A>T (p.Tyr299Phe) c.1049A>T (p.Tyr350Phe) c.1229A>T (p.Tyr410Phe) | |
7 | g.117542039T>A | CA368979907 | CFTR | c.1140T>A (p.Tyr380Ter) c.*1037T>A (n.*1037T>A) c.*964T>A (n.*964T>A) c.897T>A (p.Tyr299Ter) c.1050T>A (p.Tyr350Ter) c.1230T>A (p.Tyr410Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542039T>C | CA457227605 | CFTR | c.1140T>C (p.Tyr380=) c.*1037T>C (n.*1037T>C) c.*964T>C (n.*964T>C) c.897T>C (p.Tyr299=) c.1050T>C (p.Tyr350=) c.1230T>C (p.Tyr410=) | gnomAD v4 |
7 | g.117542039T>G | CA368979909 | CFTR | c.1140T>G (p.Tyr380Ter) c.*1037T>G (n.*1037T>G) c.*964T>G (n.*964T>G) c.897T>G (p.Tyr299Ter) c.1050T>G (p.Tyr350Ter) c.1230T>G (p.Tyr410Ter) | |
7 | g.117542039T= | CA1737334963 | CFTR | c.1140T= (p.Tyr380=) c.*1037T= (n.*1037T=) c.*964T= (n.*964T=) c.897T= (p.Tyr299=) c.1050T= (p.Tyr350=) c.1230T= (p.Tyr410=) | |
7 | g.117542040A= | CA1737334964 | CFTR | c.1141A= (p.Lys381=) c.*1038A= (n.*1038A=) c.*965A= (n.*965A=) c.898A= (p.Lys300=) c.1051A= (p.Lys351=) c.1231A= (p.Lys411=) | |
7 | g.117542040A>C | CA368979913 | CFTR | c.1141A>C (p.Lys381Gln) c.*1038A>C (n.*1038A>C) c.*965A>C (n.*965A>C) c.898A>C (p.Lys300Gln) c.1051A>C (p.Lys351Gln) c.1231A>C (p.Lys411Gln) | |
7 | g.117542040A>G | CA368979916 | CFTR | c.1141A>G (p.Lys381Glu) c.*1038A>G (n.*1038A>G) c.*965A>G (n.*965A>G) c.898A>G (p.Lys300Glu) c.1051A>G (p.Lys351Glu) c.1231A>G (p.Lys411Glu) | gnomAD v4 |
7 | g.117542040A>T | CA368979924 | CFTR | c.1141A>T (p.Lys381Ter) c.*1038A>T (n.*1038A>T) c.*965A>T (n.*965A>T) c.898A>T (p.Lys300Ter) c.1051A>T (p.Lys351Ter) c.1231A>T (p.Lys411Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117542041del | CA2578999965 | CFTR | c.1142del (p.Lys381ArgfsTer7) c.*1039del (n.*1039del) c.*966del (n.*966del) c.899del (p.Lys300ArgfsTer7) c.1052del (p.Lys351ArgfsTer7) c.1232del (p.Lys411ArgfsTer7) | |
7 | g.117542041A>C | CA368979927 | CFTR | c.1142A>C (p.Lys381Thr) c.*1039A>C (n.*1039A>C) c.*966A>C (n.*966A>C) c.899A>C (p.Lys300Thr) c.1052A>C (p.Lys351Thr) c.1232A>C (p.Lys411Thr) | |
7 | g.117542041A>G | CA368979933 | CFTR | c.1142A>G (p.Lys381Arg) c.*1039A>G (n.*1039A>G) c.*966A>G (n.*966A>G) c.899A>G (p.Lys300Arg) c.1052A>G (p.Lys351Arg) c.1232A>G (p.Lys411Arg) | |
7 | g.117542041A>T | CA368979934 | CFTR | c.1142A>T (p.Lys381Met) c.*1039A>T (n.*1039A>T) c.*966A>T (n.*966A>T) c.899A>T (p.Lys300Met) c.1052A>T (p.Lys351Met) c.1232A>T (p.Lys411Met) | gnomAD v4 |
7 | g.117542042G>A | CA457227606 | CFTR | c.1143G>A (p.Lys381=) c.*1040G>A (n.*1040G>A) c.*967G>A (n.*967G>A) c.900G>A (p.Lys300=) c.1053G>A (p.Lys351=) c.1233G>A (p.Lys411=) | |
7 | g.117542042G>C | CA368979938 | CFTR | c.1143G>C (p.Lys381Asn) c.*1040G>C (n.*1040G>C) c.*967G>C (n.*967G>C) c.900G>C (p.Lys300Asn) c.1053G>C (p.Lys351Asn) c.1233G>C (p.Lys411Asn) | |
7 | g.117542042G>T | CA368979940 | CFTR | c.1143G>T (p.Lys381Asn) c.*1040G>T (n.*1040G>T) c.*967G>T (n.*967G>T) c.900G>T (p.Lys300Asn) c.1053G>T (p.Lys351Asn) c.1233G>T (p.Lys411Asn) | gnomAD v4 |
7 | g.117542043A= | CA1737334965 | CFTR | c.1144A= (p.Thr382=) c.*1041A= (n.*1041A=) c.*968A= (n.*968A=) c.901A= (p.Thr301=) c.1054A= (p.Thr352=) c.1234A= (p.Thr412=) | |
7 | g.117542043A>C | CA4450910 | CFTR | c.1144A>C (p.Thr382Pro) c.*1041A>C (n.*1041A>C) c.*968A>C (n.*968A>C) c.901A>C (p.Thr301Pro) c.1054A>C (p.Thr352Pro) c.1234A>C (p.Thr412Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542043A>G | CA368979952 | CFTR | c.1144A>G (p.Thr382Ala) c.*1041A>G (n.*1041A>G) c.*968A>G (n.*968A>G) c.901A>G (p.Thr301Ala) c.1054A>G (p.Thr352Ala) c.1234A>G (p.Thr412Ala) | gnomAD v4 |
7 | g.117542043A>T | CA368979948 | CFTR | c.1144A>T (p.Thr382Ser) c.*1041A>T (n.*1041A>T) c.*968A>T (n.*968A>T) c.901A>T (p.Thr301Ser) c.1054A>T (p.Thr352Ser) c.1234A>T (p.Thr412Ser) | |
7 | g.117542044C>A | CA368979953 | CFTR | c.1145C>A (p.Thr382Lys) c.*1042C>A (n.*1042C>A) c.*969C>A (n.*969C>A) c.902C>A (p.Thr301Lys) c.1055C>A (p.Thr352Lys) c.1235C>A (p.Thr412Lys) | gnomAD v4 |
7 | g.117542044C>G | CA368979955 | CFTR | c.1145C>G (p.Thr382Arg) c.*1042C>G (n.*1042C>G) c.*969C>G (n.*969C>G) c.902C>G (p.Thr301Arg) c.1055C>G (p.Thr352Arg) c.1235C>G (p.Thr412Arg) | |
7 | g.117542044C>T | CA368979954 | CFTR | c.1145C>T (p.Thr382Ile) c.*1042C>T (n.*1042C>T) c.*969C>T (n.*969C>T) c.902C>T (p.Thr301Ile) c.1055C>T (p.Thr352Ile) c.1235C>T (p.Thr412Ile) | gnomAD v4 |
7 | g.117542045A= | CA1737334966 | CFTR | c.1146A= (p.Thr382=) c.*1043A= (n.*1043A=) c.*970A= (n.*970A=) c.903A= (p.Thr301=) c.1056A= (p.Thr352=) c.1236A= (p.Thr412=) | |
7 | g.117542045A>C | CA457227608 | CFTR | c.1146A>C (p.Thr382=) c.*1043A>C (n.*1043A>C) c.*970A>C (n.*970A>C) c.903A>C (p.Thr301=) c.1056A>C (p.Thr352=) c.1236A>C (p.Thr412=) | ClinVar |
7 | g.117542045A>G | CA457227610 | CFTR | c.1146A>G (p.Thr382=) c.*1043A>G (n.*1043A>G) c.*970A>G (n.*970A>G) c.903A>G (p.Thr301=) c.1056A>G (p.Thr352=) c.1236A>G (p.Thr412=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542045A>T | CA457227611 | CFTR | c.1146A>T (p.Thr382=) c.*1043A>T (n.*1043A>T) c.*970A>T (n.*970A>T) c.903A>T (p.Thr301=) c.1056A>T (p.Thr352=) c.1236A>T (p.Thr412=) | ClinVar |
7 | g.117542046T>A | CA368979957 | CFTR | c.1147T>A (p.Leu383Met) c.*1044T>A (n.*1044T>A) c.*971T>A (n.*971T>A) c.904T>A (p.Leu302Met) c.1057T>A (p.Leu353Met) c.1237T>A (p.Leu413Met) | |
7 | g.117542046T>C | CA457227612 | CFTR | c.1147T>C (p.Leu383=) c.*1044T>C (n.*1044T>C) c.*971T>C (n.*971T>C) c.904T>C (p.Leu302=) c.1057T>C (p.Leu353=) c.1237T>C (p.Leu413=) | ClinVar |
7 | g.117542046T>G | CA368979960 | CFTR | c.1147T>G (p.Leu383Val) c.*1044T>G (n.*1044T>G) c.*971T>G (n.*971T>G) c.904T>G (p.Leu302Val) c.1057T>G (p.Leu353Val) c.1237T>G (p.Leu413Val) | |
7 | g.117542047T>A | CA368979961 | CFTR | c.1148T>A (p.Leu383Ter) c.*1045T>A (n.*1045T>A) c.*972T>A (n.*972T>A) c.905T>A (p.Leu302Ter) c.1058T>A (p.Leu353Ter) c.1238T>A (p.Leu413Ter) | |
7 | g.117542047T>C | CA326417 | CFTR | c.1148T>C (p.Leu383Ser) c.*1045T>C (n.*1045T>C) c.*972T>C (n.*972T>C) c.905T>C (p.Leu302Ser) c.1058T>C (p.Leu353Ser) c.1238T>C (p.Leu413Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117542047T>G | CA368979968 | CFTR | c.1148T>G (p.Leu383Trp) c.*1045T>G (n.*1045T>G) c.*972T>G (n.*972T>G) c.905T>G (p.Leu302Trp) c.1058T>G (p.Leu353Trp) c.1238T>G (p.Leu413Trp) | |
7 | g.117542047T= | CA1737334967 | CFTR | c.1148T= (p.Leu383=) c.*1045T= (n.*1045T=) c.*972T= (n.*972T=) c.905T= (p.Leu302=) c.1058T= (p.Leu353=) c.1238T= (p.Leu413=) | |
7 | g.117542048G>A | CA457227614 | CFTR | c.1149G>A (p.Leu383=) c.*1046G>A (n.*1046G>A) c.*973G>A (n.*973G>A) c.906G>A (p.Leu302=) c.1059G>A (p.Leu353=) c.1239G>A (p.Leu413=) | ClinVar dbSNP |
7 | g.117542048G>C | CA368979970 | CFTR | c.1149G>C (p.Leu383Phe) c.*1046G>C (n.*1046G>C) c.*973G>C (n.*973G>C) c.906G>C (p.Leu302Phe) c.1059G>C (p.Leu353Phe) c.1239G>C (p.Leu413Phe) | |
7 | g.117542048G= | CA1737334968 | CFTR | c.1149G= (p.Leu383=) c.*1046G= (n.*1046G=) c.*973G= (n.*973G=) c.906G= (p.Leu302=) c.1059G= (p.Leu353=) c.1239G= (p.Leu413=) | |
7 | g.117542048G>T | CA368979972 | CFTR | c.1149G>T (p.Leu383Phe) c.*1046G>T (n.*1046G>T) c.*973G>T (n.*973G>T) c.906G>T (p.Leu302Phe) c.1059G>T (p.Leu353Phe) c.1239G>T (p.Leu413Phe) | |
7 | g.117542049G>A | CA368979975 | CFTR | c.1150G>A (p.Glu384Lys) c.*1047G>A (n.*1047G>A) c.*974G>A (n.*974G>A) c.907G>A (p.Glu303Lys) c.1060G>A (p.Glu354Lys) c.1240G>A (p.Glu414Lys) | ClinVar gnomAD v4 |
7 | g.117542049G>C | CA368979981 | CFTR | c.1150G>C (p.Glu384Gln) c.*1047G>C (n.*1047G>C) c.*974G>C (n.*974G>C) c.907G>C (p.Glu303Gln) c.1060G>C (p.Glu354Gln) c.1240G>C (p.Glu414Gln) | dbSNP |
7 | g.117542049G= | CA1737334971 | CFTR | c.1150G= (p.Glu384=) c.*1047G= (n.*1047G=) c.*974G= (n.*974G=) c.907G= (p.Glu303=) c.1060G= (p.Glu354=) c.1240G= (p.Glu414=) | |
7 | g.117542049G>T | CA368979977 | CFTR | c.1150G>T (p.Glu384Ter) c.*1047G>T (n.*1047G>T) c.*974G>T (n.*974G>T) c.907G>T (p.Glu303Ter) c.1060G>T (p.Glu354Ter) c.1240G>T (p.Glu414Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117542049_117542050delinsGA | CA1737334969 | CFTR | c.1150_1151delinsGA (p.Glu384=) c.*1047_*1048delinsGA (n.*1047_*1048delinsGA) c.*974_*975delinsGA (n.*974_*975delinsGA) c.907_908delinsGA (p.Glu303=) c.1060_1061delinsGA (p.Glu354=) c.1240_1241delinsGA (p.Glu414=) | |
7 | g.117542050A= | CA1737334978 | CFTR | c.1151A= (p.Glu384=) c.*1048A= (n.*1048A=) c.*975A= (n.*975A=) c.908A= (p.Glu303=) c.1061A= (p.Glu354=) c.1241A= (p.Glu414=) | |
7 | g.117542050A>C | CA368979982 | CFTR | c.1151A>C (p.Glu384Ala) c.*1048A>C (n.*1048A>C) c.*975A>C (n.*975A>C) c.908A>C (p.Glu303Ala) c.1061A>C (p.Glu354Ala) c.1241A>C (p.Glu414Ala) | |
7 | g.117542050A>G | CA368979983 | CFTR | c.1151A>G (p.Glu384Gly) c.*1048A>G (n.*1048A>G) c.*975A>G (n.*975A>G) c.908A>G (p.Glu303Gly) c.1061A>G (p.Glu354Gly) c.1241A>G (p.Glu414Gly) | gnomAD v4 COSMIC |
7 | g.117542050A>T | CA368979984 | CFTR | c.1151A>T (p.Glu384Val) c.*1048A>T (n.*1048A>T) c.*975A>T (n.*975A>T) c.908A>T (p.Glu303Val) c.1061A>T (p.Glu354Val) c.1241A>T (p.Glu414Val) | |
7 | g.117542051del | CA326419 | CFTR | c.1152del (p.Glu384AspfsTer4) c.*1049del (n.*1049del) c.*976del (n.*976del) c.909del (p.Glu303AspfsTer4) c.1062del (p.Glu354AspfsTer4) c.1242del (p.Glu414AspfsTer4) | ClinVar dbSNP |
7 | g.117542051A= | CA1737334987 | CFTR | c.1152A= (p.Glu384=) c.*1049A= (n.*1049A=) c.*976A= (n.*976A=) c.909A= (p.Glu303=) c.1062A= (p.Glu354=) c.1242A= (p.Glu414=) | |
7 | g.117542051A>C | CA368979995 | CFTR | c.1152A>C (p.Glu384Asp) c.*1049A>C (n.*1049A>C) c.*976A>C (n.*976A>C) c.909A>C (p.Glu303Asp) c.1062A>C (p.Glu354Asp) c.1242A>C (p.Glu414Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542051A>G | CA457227617 | CFTR | c.1152A>G (p.Glu384=) c.*1049A>G (n.*1049A>G) c.*976A>G (n.*976A>G) c.909A>G (p.Glu303=) c.1062A>G (p.Glu354=) c.1242A>G (p.Glu414=) | ClinVar COSMIC |
7 | g.117542051A>T | CA368979990 | CFTR | c.1152A>T (p.Glu384Asp) c.*1049A>T (n.*1049A>T) c.*976A>T (n.*976A>T) c.909A>T (p.Glu303Asp) c.1062A>T (p.Glu354Asp) c.1242A>T (p.Glu414Asp) | |
7 | g.117542054_117542055dup | CA326420 | CFTR | c.1155_1156dup (p.Asn386IlefsTer3) c.*1052_*1053dup (n.*1052_*1053dup) c.*979_*980dup (n.*979_*980dup) c.912_913dup (p.Asn305IlefsTer3) c.1065_1066dup (p.Asn356IlefsTer3) c.1245_1246dup (p.Asn416IlefsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542052T>A | CA368979998 | CFTR | c.1153T>A (p.Tyr385Asn) c.*1050T>A (n.*1050T>A) c.*977T>A (n.*977T>A) c.910T>A (p.Tyr304Asn) c.1063T>A (p.Tyr355Asn) c.1243T>A (p.Tyr415Asn) | ClinVar |
7 | g.117542052T>C | CA368980006 | CFTR | c.1153T>C (p.Tyr385His) c.*1050T>C (n.*1050T>C) c.*977T>C (n.*977T>C) c.910T>C (p.Tyr304His) c.1063T>C (p.Tyr355His) c.1243T>C (p.Tyr415His) | ClinVar dbSNP |
7 | g.117542052T>G | CA368980009 | CFTR | c.1153T>G (p.Tyr385Asp) c.*1050T>G (n.*1050T>G) c.*977T>G (n.*977T>G) c.910T>G (p.Tyr304Asp) c.1063T>G (p.Tyr355Asp) c.1243T>G (p.Tyr415Asp) | |
7 | g.117542052T= | CA1737334994 | CFTR | c.1153T= (p.Tyr385=) c.*1050T= (n.*1050T=) c.*977T= (n.*977T=) c.910T= (p.Tyr304=) c.1063T= (p.Tyr355=) c.1243T= (p.Tyr415=) | |
7 | g.117542053A= | CA1737334998 | CFTR | c.1154A= (p.Tyr385=) c.*1051A= (n.*1051A=) c.*978A= (n.*978A=) c.911A= (p.Tyr304=) c.1064A= (p.Tyr355=) c.1244A= (p.Tyr415=) | |
7 | g.117542053A>C | CA368980013 | CFTR | c.1154A>C (p.Tyr385Ser) c.*1051A>C (n.*1051A>C) c.*978A>C (n.*978A>C) c.911A>C (p.Tyr304Ser) c.1064A>C (p.Tyr355Ser) c.1244A>C (p.Tyr415Ser) | |
7 | g.117542053A>G | CA368980015 | CFTR | c.1154A>G (p.Tyr385Cys) c.*1051A>G (n.*1051A>G) c.*978A>G (n.*978A>G) c.911A>G (p.Tyr304Cys) c.1064A>G (p.Tyr355Cys) c.1244A>G (p.Tyr415Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.117542053A>T | CA368980023 | CFTR | c.1154A>T (p.Tyr385Phe) c.*1051A>T (n.*1051A>T) c.*978A>T (n.*978A>T) c.911A>T (p.Tyr304Phe) c.1064A>T (p.Tyr355Phe) c.1244A>T (p.Tyr415Phe) | |
7 | g.117542054T>A | CA368980026 | CFTR | c.1155T>A (p.Tyr385Ter) c.*1052T>A (n.*1052T>A) c.*979T>A (n.*979T>A) c.912T>A (p.Tyr304Ter) c.1065T>A (p.Tyr355Ter) c.1245T>A (p.Tyr415Ter) | ClinVar |
7 | g.117542054T>C | CA457227619 | CFTR | c.1155T>C (p.Tyr385=) c.*1052T>C (n.*1052T>C) c.*979T>C (n.*979T>C) c.912T>C (p.Tyr304=) c.1065T>C (p.Tyr355=) c.1245T>C (p.Tyr415=) | ClinVar gnomAD v4 |
7 | g.117542054T>G | CA368980028 | CFTR | c.1155T>G (p.Tyr385Ter) c.*1052T>G (n.*1052T>G) c.*979T>G (n.*979T>G) c.912T>G (p.Tyr304Ter) c.1065T>G (p.Tyr355Ter) c.1245T>G (p.Tyr415Ter) | |
7 | g.117542055A= | CA1737335003 | CFTR | c.1156A= (p.Asn386=) c.*1053A= (n.*1053A=) c.*980A= (n.*980A=) c.913A= (p.Asn305=) c.1066A= (p.Asn356=) c.1246A= (p.Asn416=) | |
7 | g.117542055A>C | CA368980035 | CFTR | c.1156A>C (p.Asn386His) c.*1053A>C (n.*1053A>C) c.*980A>C (n.*980A>C) c.913A>C (p.Asn305His) c.1066A>C (p.Asn356His) c.1246A>C (p.Asn416His) | |
7 | g.117542055A>G | CA368980033 | CFTR | c.1156A>G (p.Asn386Asp) c.*1053A>G (n.*1053A>G) c.*980A>G (n.*980A>G) c.913A>G (p.Asn305Asp) c.1066A>G (p.Asn356Asp) c.1246A>G (p.Asn416Asp) | gnomAD v4 |
7 | g.117542055A>T | CA164955671 | CFTR | c.1156A>T (p.Asn386Tyr) c.*1053A>T (n.*1053A>T) c.*980A>T (n.*980A>T) c.913A>T (p.Asn305Tyr) c.1066A>T (p.Asn356Tyr) c.1246A>T (p.Asn416Tyr) | dbSNP |
7 | g.117542056A>C | CA368980037 | CFTR | c.1157A>C (p.Asn386Thr) c.*1054A>C (n.*1054A>C) c.*981A>C (n.*981A>C) c.914A>C (p.Asn305Thr) c.1067A>C (p.Asn356Thr) c.1247A>C (p.Asn416Thr) | |
7 | g.117542056A>G | CA368980039 | CFTR | c.1157A>G (p.Asn386Ser) c.*1054A>G (n.*1054A>G) c.*981A>G (n.*981A>G) c.914A>G (p.Asn305Ser) c.1067A>G (p.Asn356Ser) c.1247A>G (p.Asn416Ser) | gnomAD v4 |
7 | g.117542056A>T | CA368980043 | CFTR | c.1157A>T (p.Asn386Ile) c.*1054A>T (n.*1054A>T) c.*981A>T (n.*981A>T) c.914A>T (p.Asn305Ile) c.1067A>T (p.Asn356Ile) c.1247A>T (p.Asn416Ile) | |
7 | g.117542057C>A | CA368980045 | CFTR | c.1158C>A (p.Asn386Lys) c.*1055C>A (n.*1055C>A) c.*982C>A (n.*982C>A) c.915C>A (p.Asn305Lys) c.1068C>A (p.Asn356Lys) c.1248C>A (p.Asn416Lys) | gnomAD v4 |
7 | g.117542057C= | CA1737335006 | CFTR | c.1158C= (p.Asn386=) c.*1055C= (n.*1055C=) c.*982C= (n.*982C=) c.915C= (p.Asn305=) c.1068C= (p.Asn356=) c.1248C= (p.Asn416=) | |
7 | g.117542057C>G | CA368980048 | CFTR | c.1158C>G (p.Asn386Lys) c.*1055C>G (n.*1055C>G) c.*982C>G (n.*982C>G) c.915C>G (p.Asn305Lys) c.1068C>G (p.Asn356Lys) c.1248C>G (p.Asn416Lys) | COSMIC |
7 | g.117542057C>T | CA4450911 | CFTR | c.1158C>T (p.Asn386=) c.*1055C>T (n.*1055C>T) c.*982C>T (n.*982C>T) c.915C>T (p.Asn305=) c.1068C>T (p.Asn356=) c.1248C>T (p.Asn416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542058T>A | CA368980050 | CFTR | c.1159T>A (p.Leu387Ile) c.*1056T>A (n.*1056T>A) c.*983T>A (n.*983T>A) c.916T>A (p.Leu306Ile) c.1069T>A (p.Leu357Ile) c.1249T>A (p.Leu417Ile) | |
7 | g.117542058T>C | CA457227627 | CFTR | c.1159T>C (p.Leu387=) c.*1056T>C (n.*1056T>C) c.*983T>C (n.*983T>C) c.916T>C (p.Leu306=) c.1069T>C (p.Leu357=) c.1249T>C (p.Leu417=) | ClinVar dbSNP |
7 | g.117542058T>G | CA368980053 | CFTR | c.1159T>G (p.Leu387Val) c.*1056T>G (n.*1056T>G) c.*983T>G (n.*983T>G) c.916T>G (p.Leu306Val) c.1069T>G (p.Leu357Val) c.1249T>G (p.Leu417Val) | |
7 | g.117542058_117542059del | CA2580076474 | CFTR | c.1159_1160del (p.Leu387AsnfsTer23) c.*1056_*1057del (n.*1056_*1057del) c.1159_1160del (p.Leu387AsnfsTer?) c.*983_*984del (n.*983_*984del) c.916_917del (p.Leu306AsnfsTer?) c.916_917del (p.Leu306AsnfsTer23) c.1069_1070del (p.Leu357AsnfsTer23) c.1249_1250del (p.Leu417AsnfsTer23) | ClinVar |
7 | g.117542058_117542065delinsTTAACGAC | CA1737335009 | CFTR | c.1159_1166delinsTTAACGAC (p.Leu387=) c.*1056_*1063delinsTTAACGAC (n.*1056_*1063delinsTTAACGAC) c.*983_*990delinsTTAACGAC (n.*983_*990delinsTTAACGAC) c.916_923delinsTTAACGAC (p.Leu306=) c.1069_1076delinsTTAACGAC (p.Leu357=) c.1249_1256delinsTTAACGAC (p.Leu417=) | |
7 | g.117542059T>A | CA368980055 | CFTR | c.1160T>A (p.Leu387Ter) c.*1057T>A (n.*1057T>A) c.*984T>A (n.*984T>A) c.917T>A (p.Leu306Ter) c.1070T>A (p.Leu357Ter) c.1250T>A (p.Leu417Ter) | |
7 | g.117542059T>C | CA368980056 | CFTR | c.1160T>C (p.Leu387Ser) c.*1057T>C (n.*1057T>C) c.*984T>C (n.*984T>C) c.917T>C (p.Leu306Ser) c.1070T>C (p.Leu357Ser) c.1250T>C (p.Leu417Ser) | dbSNP gnomAD v2 |
7 | g.117542059T>G | CA368980057 | CFTR | c.1160T>G (p.Leu387Ter) c.*1057T>G (n.*1057T>G) c.*984T>G (n.*984T>G) c.917T>G (p.Leu306Ter) c.1070T>G (p.Leu357Ter) c.1250T>G (p.Leu417Ter) | |
7 | g.117542059T= | CA1737335013 | CFTR | c.1160T= (p.Leu387=) c.*1057T= (n.*1057T=) c.*984T= (n.*984T=) c.917T= (p.Leu306=) c.1070T= (p.Leu357=) c.1250T= (p.Leu417=) | |
7 | g.117542061_117542067del | CA326421 | CFTR | c.1162_1168del (p.Thr388GlnfsTer3) c.*1059_*1065del (n.*1059_*1065del) c.*986_*992del (n.*986_*992del) c.919_925del (p.Thr307GlnfsTer3) c.1072_1078del (p.Thr358GlnfsTer3) c.1252_1258del (p.Thr418GlnfsTer3) | ClinVar dbSNP |
7 | g.117542060A= | CA1737335022 | CFTR | c.1161A= (p.Leu387=) c.*1058A= (n.*1058A=) c.*985A= (n.*985A=) c.918A= (p.Leu306=) c.1071A= (p.Leu357=) c.1251A= (p.Leu417=) | |
7 | g.117542060A>C | CA368980058 | CFTR | c.1161A>C (p.Leu387Phe) c.*1058A>C (n.*1058A>C) c.*985A>C (n.*985A>C) c.918A>C (p.Leu306Phe) c.1071A>C (p.Leu357Phe) c.1251A>C (p.Leu417Phe) | ClinVar |
7 | g.117542060A>G | CA457227631 | CFTR | c.1161A>G (p.Leu387=) c.*1058A>G (n.*1058A>G) c.*985A>G (n.*985A>G) c.918A>G (p.Leu306=) c.1071A>G (p.Leu357=) c.1251A>G (p.Leu417=) | ClinVar dbSNP gnomAD v4 |
7 | g.117542060A>T | CA368980059 | CFTR | c.1161A>T (p.Leu387Phe) c.*1058A>T (n.*1058A>T) c.*985A>T (n.*985A>T) c.918A>T (p.Leu306Phe) c.1071A>T (p.Leu357Phe) c.1251A>T (p.Leu417Phe) | gnomAD v4 |
7 | g.117542061A>C | CA368980066 | CFTR | c.1162A>C (p.Thr388Pro) c.*1059A>C (n.*1059A>C) c.*986A>C (n.*986A>C) c.919A>C (p.Thr307Pro) c.1072A>C (p.Thr358Pro) c.1252A>C (p.Thr418Pro) | |
7 | g.117542061A>G | CA368980063 | CFTR | c.1162A>G (p.Thr388Ala) c.*1059A>G (n.*1059A>G) c.*986A>G (n.*986A>G) c.919A>G (p.Thr307Ala) c.1072A>G (p.Thr358Ala) c.1252A>G (p.Thr418Ala) | COSMIC |
7 | g.117542061A>T | CA368980064 | CFTR | c.1162A>T (p.Thr388Ser) c.*1059A>T (n.*1059A>T) c.*986A>T (n.*986A>T) c.919A>T (p.Thr307Ser) c.1072A>T (p.Thr358Ser) c.1252A>T (p.Thr418Ser) | |
7 | g.117542061_117542062delinsTA | CA2695208313 | CFTR | c.1162_1163delinsTA (p.Thr388Ter) c.*1059_*1060delinsTA (n.*1059_*1060delinsTA) c.*986_*987delinsTA (n.*986_*987delinsTA) c.919_920delinsTA (p.Thr307Ter) c.1072_1073delinsTA (p.Thr358Ter) c.1252_1253delinsTA (p.Thr418Ter) | |
7 | g.117542062C>A | CA368980067 | CFTR | c.1163C>A (p.Thr388Lys) c.*1060C>A (n.*1060C>A) c.*987C>A (n.*987C>A) c.920C>A (p.Thr307Lys) c.1073C>A (p.Thr358Lys) c.1253C>A (p.Thr418Lys) | ClinVar gnomAD v4 |
7 | g.117542062C= | CA1737335030 | CFTR | c.1163C= (p.Thr388=) c.*1060C= (n.*1060C=) c.*987C= (n.*987C=) c.920C= (p.Thr307=) c.1073C= (p.Thr358=) c.1253C= (p.Thr418=) | |
7 | g.117542062C>G | CA368980069 | CFTR | c.1163C>G (p.Thr388Arg) c.*1060C>G (n.*1060C>G) c.*987C>G (n.*987C>G) c.920C>G (p.Thr307Arg) c.1073C>G (p.Thr358Arg) c.1253C>G (p.Thr418Arg) | |
7 | g.117542062C>T | CA4450912 | CFTR | c.1163C>T (p.Thr388Met) c.*1060C>T (n.*1060C>T) c.*987C>T (n.*987C>T) c.920C>T (p.Thr307Met) c.1073C>T (p.Thr358Met) c.1253C>T (p.Thr418Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542063G>A | CA4450913 | CFTR | c.1164G>A (p.Thr388=) c.*1061G>A (n.*1061G>A) c.*988G>A (n.*988G>A) c.921G>A (p.Thr307=) c.1074G>A (p.Thr358=) c.1254G>A (p.Thr418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542063G>C | CA457227634 | CFTR | c.1164G>C (p.Thr388=) c.*1061G>C (n.*1061G>C) c.*988G>C (n.*988G>C) c.921G>C (p.Thr307=) c.1074G>C (p.Thr358=) c.1254G>C (p.Thr418=) | |
7 | g.117542063G= | CA1737335039 | CFTR | c.1164G= (p.Thr388=) c.*1061G= (n.*1061G=) c.*988G= (n.*988G=) c.921G= (p.Thr307=) c.1074G= (p.Thr358=) c.1254G= (p.Thr418=) | |
7 | g.117542063G>T | CA164955683 | CFTR | c.1164G>T (p.Thr388=) c.*1061G>T (n.*1061G>T) c.*988G>T (n.*988G>T) c.921G>T (p.Thr307=) c.1074G>T (p.Thr358=) c.1254G>T (p.Thr418=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542064A= | CA1737335042 | CFTR | c.1165A= (p.Thr389=) c.*1062A= (n.*1062A=) c.*989A= (n.*989A=) c.922A= (p.Thr308=) c.1075A= (p.Thr359=) c.1255A= (p.Thr419=) | |
7 | g.117542064A>C | CA368980074 | CFTR | c.1165A>C (p.Thr389Pro) c.*1062A>C (n.*1062A>C) c.*989A>C (n.*989A>C) c.922A>C (p.Thr308Pro) c.1075A>C (p.Thr359Pro) c.1255A>C (p.Thr419Pro) | |
7 | g.117542064A>G | CA368980076 | CFTR | c.1165A>G (p.Thr389Ala) c.*1062A>G (n.*1062A>G) c.*989A>G (n.*989A>G) c.922A>G (p.Thr308Ala) c.1075A>G (p.Thr359Ala) c.1255A>G (p.Thr419Ala) | dbSNP gnomAD v4 |
7 | g.117542064A>T | CA4450914 | CFTR | c.1165A>T (p.Thr389Ser) c.*1062A>T (n.*1062A>T) c.*989A>T (n.*989A>T) c.922A>T (p.Thr308Ser) c.1075A>T (p.Thr359Ser) c.1255A>T (p.Thr419Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542065C>A | CA368980079 | CFTR | c.1166C>A (p.Thr389Asn) c.*1063C>A (n.*1063C>A) c.*990C>A (n.*990C>A) c.923C>A (p.Thr308Asn) c.1076C>A (p.Thr359Asn) c.1256C>A (p.Thr419Asn) | gnomAD v4 |
7 | g.117542065C>G | CA368980080 | CFTR | c.1166C>G (p.Thr389Ser) c.*1063C>G (n.*1063C>G) c.*990C>G (n.*990C>G) c.923C>G (p.Thr308Ser) c.1076C>G (p.Thr359Ser) c.1256C>G (p.Thr419Ser) | |
7 | g.117542065C>T | CA368980081 | CFTR | c.1166C>T (p.Thr389Ile) c.*1063C>T (n.*1063C>T) c.*990C>T (n.*990C>T) c.923C>T (p.Thr308Ile) c.1076C>T (p.Thr359Ile) c.1256C>T (p.Thr419Ile) | ClinVar |
7 | g.117542066del | CA2578999966 | CFTR | c.1167del (p.Thr390GlnfsTer3) c.*1064del (n.*1064del) c.*991del (n.*991del) c.924del (p.Thr309GlnfsTer3) c.1077del (p.Thr360GlnfsTer3) c.1257del (p.Thr420GlnfsTer3) | |
7 | g.117542066T>A | CA457227636 | CFTR | c.1167T>A (p.Thr389=) c.*1064T>A (n.*1064T>A) c.*991T>A (n.*991T>A) c.924T>A (p.Thr308=) c.1077T>A (p.Thr359=) c.1257T>A (p.Thr419=) | |
7 | g.117542066T>C | CA457227637 | CFTR | c.1167T>C (p.Thr389=) c.*1064T>C (n.*1064T>C) c.*991T>C (n.*991T>C) c.924T>C (p.Thr308=) c.1077T>C (p.Thr359=) c.1257T>C (p.Thr419=) | ClinVar dbSNP gnomAD v4 |
7 | g.117542066T>G | CA457227638 | CFTR | c.1167T>G (p.Thr389=) c.*1064T>G (n.*1064T>G) c.*991T>G (n.*991T>G) c.924T>G (p.Thr308=) c.1077T>G (p.Thr359=) c.1257T>G (p.Thr419=) | |
7 | g.117542067A= | CA1737335045 | CFTR | c.1168A= (p.Thr390=) c.*1065A= (n.*1065A=) c.*992A= (n.*992A=) c.925A= (p.Thr309=) c.1078A= (p.Thr360=) c.1258A= (p.Thr420=) | |
7 | g.117542067A>C | CA368980083 | CFTR | c.1168A>C (p.Thr390Pro) c.*1065A>C (n.*1065A>C) c.*992A>C (n.*992A>C) c.925A>C (p.Thr309Pro) c.1078A>C (p.Thr360Pro) c.1258A>C (p.Thr420Pro) | |
7 | g.117542067A>G | CA4450915 | CFTR | c.1168A>G (p.Thr390Ala) c.*1065A>G (n.*1065A>G) c.*992A>G (n.*992A>G) c.925A>G (p.Thr309Ala) c.1078A>G (p.Thr360Ala) c.1258A>G (p.Thr420Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542067A>T | CA368980086 | CFTR | c.1168A>T (p.Thr390Ser) c.*1065A>T (n.*1065A>T) c.*992A>T (n.*992A>T) c.925A>T (p.Thr309Ser) c.1078A>T (p.Thr360Ser) c.1258A>T (p.Thr420Ser) | gnomAD v4 |
7 | g.117542068C>A | CA368980091 | CFTR | c.1169C>A (p.Thr390Lys) c.*1066C>A (n.*1066C>A) c.*993C>A (n.*993C>A) c.926C>A (p.Thr309Lys) c.1079C>A (p.Thr360Lys) c.1259C>A (p.Thr420Lys) | gnomAD v4 |
7 | g.117542068C= | CA1737335048 | CFTR | c.1169C= (p.Thr390=) c.*1066C= (n.*1066C=) c.*993C= (n.*993C=) c.926C= (p.Thr309=) c.1079C= (p.Thr360=) c.1259C= (p.Thr420=) | |
7 | g.117542068C>G | CA368980094 | CFTR | c.1169C>G (p.Thr390Arg) c.*1066C>G (n.*1066C>G) c.*993C>G (n.*993C>G) c.926C>G (p.Thr309Arg) c.1079C>G (p.Thr360Arg) c.1259C>G (p.Thr420Arg) | |
7 | g.117542068C>T | CA368980100 | CFTR | c.1169C>T (p.Thr390Ile) c.*1066C>T (n.*1066C>T) c.*993C>T (n.*993C>T) c.926C>T (p.Thr309Ile) c.1079C>T (p.Thr360Ile) c.1259C>T (p.Thr420Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542069A>C | CA457227640 | CFTR | c.1170A>C (p.Thr390=) c.*1067A>C (n.*1067A>C) c.*994A>C (n.*994A>C) c.927A>C (p.Thr309=) c.1080A>C (p.Thr360=) c.1260A>C (p.Thr420=) | ClinVar dbSNP |
7 | g.117542069A>G | CA457227641 | CFTR | c.1170A>G (p.Thr390=) c.*1067A>G (n.*1067A>G) c.*994A>G (n.*994A>G) c.927A>G (p.Thr309=) c.1080A>G (p.Thr360=) c.1260A>G (p.Thr420=) | ClinVar gnomAD v4 |
7 | g.117542069A>T | CA457227642 | CFTR | c.1170A>T (p.Thr390=) c.*1067A>T (n.*1067A>T) c.*994A>T (n.*994A>T) c.927A>T (p.Thr309=) c.1080A>T (p.Thr360=) c.1260A>T (p.Thr420=) | |
7 | g.117542070_117542114del | CA2739279266 | CFTR | c.1171_1209+6del c.*1068_*1106+6del c.*995_*1033+6del c.928_966+6del c.1081_1119+6del c.1261_1299+6del | ClinVar |
7 | g.117542070G>A | CA368980103 | CFTR | c.1171G>A (p.Glu391Lys) c.*1068G>A (n.*1068G>A) c.*995G>A (n.*995G>A) c.928G>A (p.Glu310Lys) c.1081G>A (p.Glu361Lys) c.1261G>A (p.Glu421Lys) | COSMIC |
7 | g.117542070G>C | CA368980104 | CFTR | c.1171G>C (p.Glu391Gln) c.*1068G>C (n.*1068G>C) c.*995G>C (n.*995G>C) c.928G>C (p.Glu310Gln) c.1081G>C (p.Glu361Gln) c.1261G>C (p.Glu421Gln) | |
7 | g.117542070G>T | CA368980113 | CFTR | c.1171G>T (p.Glu391Ter) c.*1068G>T (n.*1068G>T) c.*995G>T (n.*995G>T) c.928G>T (p.Glu310Ter) c.1081G>T (p.Glu361Ter) c.1261G>T (p.Glu421Ter) | ClinVar |
7 | g.117542071A>C | CA368980121 | CFTR | c.1172A>C (p.Glu391Ala) c.*1069A>C (n.*1069A>C) c.*996A>C (n.*996A>C) c.929A>C (p.Glu310Ala) c.1082A>C (p.Glu361Ala) c.1262A>C (p.Glu421Ala) | |
7 | g.117542071A>G | CA368980123 | CFTR | c.1172A>G (p.Glu391Gly) c.*1069A>G (n.*1069A>G) c.*996A>G (n.*996A>G) c.929A>G (p.Glu310Gly) c.1082A>G (p.Glu361Gly) c.1262A>G (p.Glu421Gly) | |
7 | g.117542071A>T | CA368980126 | CFTR | c.1172A>T (p.Glu391Val) c.*1069A>T (n.*1069A>T) c.*996A>T (n.*996A>T) c.929A>T (p.Glu310Val) c.1082A>T (p.Glu361Val) c.1262A>T (p.Glu421Val) | |
7 | g.117542072A>C | CA368980127 | CFTR | c.1173A>C (p.Glu391Asp) c.*1070A>C (n.*1070A>C) c.*997A>C (n.*997A>C) c.930A>C (p.Glu310Asp) c.1083A>C (p.Glu361Asp) c.1263A>C (p.Glu421Asp) | |
7 | g.117542072A>G | CA457227645 | CFTR | c.1173A>G (p.Glu391=) c.*1070A>G (n.*1070A>G) c.*997A>G (n.*997A>G) c.930A>G (p.Glu310=) c.1083A>G (p.Glu361=) c.1263A>G (p.Glu421=) | gnomAD v4 |
7 | g.117542072A>T | CA368980129 | CFTR | c.1173A>T (p.Glu391Asp) c.*1070A>T (n.*1070A>T) c.*997A>T (n.*997A>T) c.930A>T (p.Glu310Asp) c.1083A>T (p.Glu361Asp) c.1263A>T (p.Glu421Asp) | gnomAD v4 |
7 | g.117542073G>A | CA368980133 | CFTR | c.1174G>A (p.Val392Ile) c.*1071G>A (n.*1071G>A) c.*998G>A (n.*998G>A) c.931G>A (p.Val311Ile) c.1084G>A (p.Val362Ile) c.1264G>A (p.Val422Ile) | |
7 | g.117542073G>C | CA368980135 | CFTR | c.1174G>C (p.Val392Leu) c.*1071G>C (n.*1071G>C) c.*998G>C (n.*998G>C) c.931G>C (p.Val311Leu) c.1084G>C (p.Val362Leu) c.1264G>C (p.Val422Leu) | |
7 | g.117542073G>T | CA368980136 | CFTR | c.1174G>T (p.Val392Leu) c.*1071G>T (n.*1071G>T) c.*998G>T (n.*998G>T) c.931G>T (p.Val311Leu) c.1084G>T (p.Val362Leu) c.1264G>T (p.Val422Leu) | |
7 | g.117542074T>A | CA368980140 | CFTR | c.1175T>A (p.Val392Glu) c.*1072T>A (n.*1072T>A) c.*999T>A (n.*999T>A) c.932T>A (p.Val311Glu) c.1085T>A (p.Val362Glu) c.1265T>A (p.Val422Glu) | |
7 | g.117542074T>C | CA326422 | CFTR | c.1175T>C (p.Val392Ala) c.*1072T>C (n.*1072T>C) c.*999T>C (n.*999T>C) c.932T>C (p.Val311Ala) c.1085T>C (p.Val362Ala) c.1265T>C (p.Val422Ala) | ClinVar dbSNP |
7 | g.117542074T>G | CA326424 | CFTR | c.1175T>G (p.Val392Gly) c.*1072T>G (n.*1072T>G) c.*999T>G (n.*999T>G) c.932T>G (p.Val311Gly) c.1085T>G (p.Val362Gly) c.1265T>G (p.Val422Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.117542074T= | CA1737335054 | CFTR | c.1175T= (p.Val392=) c.*1072T= (n.*1072T=) c.*999T= (n.*999T=) c.932T= (p.Val311=) c.1085T= (p.Val362=) c.1265T= (p.Val422=) | |
7 | g.117542075A= | CA1737335063 | CFTR | c.1176A= (p.Val392=) c.*1073A= (n.*1073A=) c.*1000A= (n.*1000A=) c.933A= (p.Val311=) c.1086A= (p.Val362=) c.1266A= (p.Val422=) | |
7 | g.117542075A>C | CA457227647 | CFTR | c.1176A>C (p.Val392=) c.*1073A>C (n.*1073A>C) c.*1000A>C (n.*1000A>C) c.933A>C (p.Val311=) c.1086A>C (p.Val362=) c.1266A>C (p.Val422=) | |
7 | g.117542075A>G | CA4450916 | CFTR | c.1176A>G (p.Val392=) c.*1073A>G (n.*1073A>G) c.*1000A>G (n.*1000A>G) c.933A>G (p.Val311=) c.1086A>G (p.Val362=) c.1266A>G (p.Val422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542075A>T | CA457227649 | CFTR | c.1176A>T (p.Val392=) c.*1073A>T (n.*1073A>T) c.*1000A>T (n.*1000A>T) c.933A>T (p.Val311=) c.1086A>T (p.Val362=) c.1266A>T (p.Val422=) | |
7 | g.117542075_117542076delinsAG | CA1737335059 | CFTR | c.1176_1177delinsAG (p.Val392=) c.*1073_*1074delinsAG (n.*1073_*1074delinsAG) c.*1000_*1001delinsAG (n.*1000_*1001delinsAG) c.933_934delinsAG (p.Val311=) c.1086_1087delinsAG (p.Val362=) c.1266_1267delinsAG (p.Val422=) | |
7 | g.117542076del | CA326426 | CFTR | c.1177del (p.Val393Ter) c.*1074del (n.*1074del) c.*1001del (n.*1001del) c.934del (p.Val312Ter) c.1087del (p.Val363Ter) c.1267del (p.Val423Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117542076G>A | CA368980143 | CFTR | c.1177G>A (p.Val393Met) c.*1074G>A (n.*1074G>A) c.*1001G>A (n.*1001G>A) c.934G>A (p.Val312Met) c.1087G>A (p.Val363Met) c.1267G>A (p.Val423Met) | ClinVar |
7 | g.117542076G>C | CA368980144 | CFTR | c.1177G>C (p.Val393Leu) c.*1074G>C (n.*1074G>C) c.*1001G>C (n.*1001G>C) c.934G>C (p.Val312Leu) c.1087G>C (p.Val363Leu) c.1267G>C (p.Val423Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117542076G= | CA1737335070 | CFTR | c.1177G= (p.Val393=) c.*1074G= (n.*1074G=) c.*1001G= (n.*1001G=) c.934G= (p.Val312=) c.1087G= (p.Val363=) c.1267G= (p.Val423=) | |
7 | g.117542076G>T | CA368980145 | CFTR | c.1177G>T (p.Val393Leu) c.*1074G>T (n.*1074G>T) c.*1001G>T (n.*1001G>T) c.934G>T (p.Val312Leu) c.1087G>T (p.Val363Leu) c.1267G>T (p.Val423Leu) | |
7 | g.117542077T>A | CA368980147 | CFTR | c.1178T>A (p.Val393Glu) c.*1075T>A (n.*1075T>A) c.*1002T>A (n.*1002T>A) c.935T>A (p.Val312Glu) c.1088T>A (p.Val363Glu) c.1268T>A (p.Val423Glu) | gnomAD v4 |
7 | g.117542077T>C | CA368980149 | CFTR | c.1178T>C (p.Val393Ala) c.*1075T>C (n.*1075T>C) c.*1002T>C (n.*1002T>C) c.935T>C (p.Val312Ala) c.1088T>C (p.Val363Ala) c.1268T>C (p.Val423Ala) | |
7 | g.117542077T>G | CA368980151 | CFTR | c.1178T>G (p.Val393Gly) c.*1075T>G (n.*1075T>G) c.*1002T>G (n.*1002T>G) c.935T>G (p.Val312Gly) c.1088T>G (p.Val363Gly) c.1268T>G (p.Val423Gly) | ClinVar dbSNP |
7 | g.117542077T= | CA1737335078 | CFTR | c.1178T= (p.Val393=) c.*1075T= (n.*1075T=) c.*1002T= (n.*1002T=) c.935T= (p.Val312=) c.1088T= (p.Val363=) c.1268T= (p.Val423=) | |
7 | g.117542079_117542081dup | CA1737335076 | CFTR | c.1180_1182dup (p.Met394_Glu395insMet) c.*1077_*1079dup (n.*1077_*1079dup) c.*1004_*1006dup (n.*1004_*1006dup) c.937_939dup (p.Met313_Glu314insMet) c.1090_1092dup (p.Met364_Glu365insMet) c.1270_1272dup (p.Met424_Glu425insMet) | dbSNP |
7 | g.117542078G>A | CA457227651 | CFTR | c.1179G>A (p.Val393=) c.*1076G>A (n.*1076G>A) c.*1003G>A (n.*1003G>A) c.936G>A (p.Val312=) c.1089G>A (p.Val363=) c.1269G>A (p.Val423=) | |
7 | g.117542078G>C | CA457227653 | CFTR | c.1179G>C (p.Val393=) c.*1076G>C (n.*1076G>C) c.*1003G>C (n.*1003G>C) c.936G>C (p.Val312=) c.1089G>C (p.Val363=) c.1269G>C (p.Val423=) | dbSNP gnomAD v2 |
7 | g.117542078G= | CA1737335081 | CFTR | c.1179G= (p.Val393=) c.*1076G= (n.*1076G=) c.*1003G= (n.*1003G=) c.936G= (p.Val312=) c.1089G= (p.Val363=) c.1269G= (p.Val423=) | |
7 | g.117542078G>T | CA457227655 | CFTR | c.1179G>T (p.Val393=) c.*1076G>T (n.*1076G>T) c.*1003G>T (n.*1003G>T) c.936G>T (p.Val312=) c.1089G>T (p.Val363=) c.1269G>T (p.Val423=) | |
7 | g.117542079A>C | CA368980153 | CFTR | c.1180A>C (p.Met394Leu) c.*1077A>C (n.*1077A>C) c.*1004A>C (n.*1004A>C) c.937A>C (p.Met313Leu) c.1090A>C (p.Met364Leu) c.1270A>C (p.Met424Leu) | |
7 | g.117542079A>G | CA368980154 | CFTR | c.1180A>G (p.Met394Val) c.*1077A>G (n.*1077A>G) c.*1004A>G (n.*1004A>G) c.937A>G (p.Met313Val) c.1090A>G (p.Met364Val) c.1270A>G (p.Met424Val) | |
7 | g.117542079A>T | CA368980157 | CFTR | c.1180A>T (p.Met394Leu) c.*1077A>T (n.*1077A>T) c.*1004A>T (n.*1004A>T) c.937A>T (p.Met313Leu) c.1090A>T (p.Met364Leu) c.1270A>T (p.Met424Leu) | |
7 | g.117542080T>A | CA368980159 | CFTR | c.1181T>A (p.Met394Lys) c.*1078T>A (n.*1078T>A) c.*1005T>A (n.*1005T>A) c.938T>A (p.Met313Lys) c.1091T>A (p.Met364Lys) c.1271T>A (p.Met424Lys) | |
7 | g.117542080T>C | CA368980161 | CFTR | c.1181T>C (p.Met394Thr) c.*1078T>C (n.*1078T>C) c.*1005T>C (n.*1005T>C) c.938T>C (p.Met313Thr) c.1091T>C (p.Met364Thr) c.1271T>C (p.Met424Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542080T>G | CA326427 | CFTR | c.1181T>G (p.Met394Arg) c.*1078T>G (n.*1078T>G) c.*1005T>G (n.*1005T>G) c.938T>G (p.Met313Arg) c.1091T>G (p.Met364Arg) c.1271T>G (p.Met424Arg) | dbSNP gnomAD v4 |
7 | g.117542080T= | CA1737335086 | CFTR | c.1181T= (p.Met394=) c.*1078T= (n.*1078T=) c.*1005T= (n.*1005T=) c.938T= (p.Met313=) c.1091T= (p.Met364=) c.1271T= (p.Met424=) | |
7 | g.117542081G>A | CA368980164 | CFTR | c.1182G>A (p.Met394Ile) c.*1079G>A (n.*1079G>A) c.*1006G>A (n.*1006G>A) c.939G>A (p.Met313Ile) c.1092G>A (p.Met364Ile) c.1272G>A (p.Met424Ile) | |
7 | g.117542081G>C | CA368980165 | CFTR | c.1182G>C (p.Met394Ile) c.*1079G>C (n.*1079G>C) c.*1006G>C (n.*1006G>C) c.939G>C (p.Met313Ile) c.1092G>C (p.Met364Ile) c.1272G>C (p.Met424Ile) | |
7 | g.117542081G>T | CA368980163 | CFTR | c.1182G>T (p.Met394Ile) c.*1079G>T (n.*1079G>T) c.*1006G>T (n.*1006G>T) c.939G>T (p.Met313Ile) c.1092G>T (p.Met364Ile) c.1272G>T (p.Met424Ile) | |
7 | g.117542082G>A | CA368980166 | CFTR | c.1183G>A (p.Glu395Lys) c.*1080G>A (n.*1080G>A) c.*1007G>A (n.*1007G>A) c.940G>A (p.Glu314Lys) c.1093G>A (p.Glu365Lys) c.1273G>A (p.Glu425Lys) | COSMIC |
7 | g.117542082G>C | CA368980167 | CFTR | c.1183G>C (p.Glu395Gln) c.*1080G>C (n.*1080G>C) c.*1007G>C (n.*1007G>C) c.940G>C (p.Glu314Gln) c.1093G>C (p.Glu365Gln) c.1273G>C (p.Glu425Gln) | gnomAD v4 |
7 | g.117542082G>T | CA368980169 | CFTR | c.1183G>T (p.Glu395Ter) c.*1080G>T (n.*1080G>T) c.*1007G>T (n.*1007G>T) c.940G>T (p.Glu314Ter) c.1093G>T (p.Glu365Ter) c.1273G>T (p.Glu425Ter) | |
7 | g.117542083A>C | CA368980171 | CFTR | c.1184A>C (p.Glu395Ala) c.*1081A>C (n.*1081A>C) c.*1008A>C (n.*1008A>C) c.941A>C (p.Glu314Ala) c.1094A>C (p.Glu365Ala) c.1274A>C (p.Glu425Ala) | |
7 | g.117542083A>G | CA368980173 | CFTR | c.1184A>G (p.Glu395Gly) c.*1081A>G (n.*1081A>G) c.*1008A>G (n.*1008A>G) c.941A>G (p.Glu314Gly) c.1094A>G (p.Glu365Gly) c.1274A>G (p.Glu425Gly) | gnomAD v4 |
7 | g.117542083A>T | CA368980175 | CFTR | c.1184A>T (p.Glu395Val) c.*1081A>T (n.*1081A>T) c.*1008A>T (n.*1008A>T) c.941A>T (p.Glu314Val) c.1094A>T (p.Glu365Val) c.1274A>T (p.Glu425Val) | |
7 | g.117542084G>A | CA457227665 | CFTR | c.1185G>A (p.Glu395=) c.*1082G>A (n.*1082G>A) c.*1009G>A (n.*1009G>A) c.942G>A (p.Glu314=) c.1095G>A (p.Glu365=) c.1275G>A (p.Glu425=) | ClinVar gnomAD v4 |
7 | g.117542084G>C | CA368980176 | CFTR | c.1185G>C (p.Glu395Asp) c.*1082G>C (n.*1082G>C) c.*1009G>C (n.*1009G>C) c.942G>C (p.Glu314Asp) c.1095G>C (p.Glu365Asp) c.1275G>C (p.Glu425Asp) | gnomAD v4 |
7 | g.117542084G= | CA1737335090 | CFTR | c.1185G= (p.Glu395=) c.*1082G= (n.*1082G=) c.*1009G= (n.*1009G=) c.942G= (p.Glu314=) c.1095G= (p.Glu365=) c.1275G= (p.Glu425=) | |
7 | g.117542084G>T | CA368980177 | CFTR | c.1185G>T (p.Glu395Asp) c.*1082G>T (n.*1082G>T) c.*1009G>T (n.*1009G>T) c.942G>T (p.Glu314Asp) c.1095G>T (p.Glu365Asp) c.1275G>T (p.Glu425Asp) | |
7 | g.117542085A= | CA1737335101 | CFTR | c.1186A= (p.Asn396=) c.*1083A= (n.*1083A=) c.*1010A= (n.*1010A=) c.943A= (p.Asn315=) c.1096A= (p.Asn366=) c.1276A= (p.Asn426=) | |
7 | g.117542085A>C | CA368980180 | CFTR | c.1186A>C (p.Asn396His) c.*1083A>C (n.*1083A>C) c.*1010A>C (n.*1010A>C) c.943A>C (p.Asn315His) c.1096A>C (p.Asn366His) c.1276A>C (p.Asn426His) | |
7 | g.117542085A>G | CA368980182 | CFTR | c.1186A>G (p.Asn396Asp) c.*1083A>G (n.*1083A>G) c.*1010A>G (n.*1010A>G) c.943A>G (p.Asn315Asp) c.1096A>G (p.Asn366Asp) c.1276A>G (p.Asn426Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.117542085A>T | CA4450917 | CFTR | c.1186A>T (p.Asn396Tyr) c.*1083A>T (n.*1083A>T) c.*1010A>T (n.*1010A>T) c.943A>T (p.Asn315Tyr) c.1096A>T (p.Asn366Tyr) c.1276A>T (p.Asn426Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542085_117542087dup | CA577215197 | CFTR | c.1186_1188dup (p.Asn396_Val397insAsn) c.*1083_*1085dup (n.*1083_*1085dup) c.*1010_*1012dup (n.*1010_*1012dup) c.943_945dup (p.Asn315_Val316insAsn) c.1096_1098dup (p.Asn366_Val367insAsn) c.1276_1278dup (p.Asn426_Val427insAsn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542086A= | CA1737335105 | CFTR | c.1187A= (p.Asn396=) c.*1084A= (n.*1084A=) c.*1011A= (n.*1011A=) c.944A= (p.Asn315=) c.1097A= (p.Asn366=) c.1277A= (p.Asn426=) | |
7 | g.117542086A>C | CA368980185 | CFTR | c.1187A>C (p.Asn396Thr) c.*1084A>C (n.*1084A>C) c.*1011A>C (n.*1011A>C) c.944A>C (p.Asn315Thr) c.1097A>C (p.Asn366Thr) c.1277A>C (p.Asn426Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542086A>G | CA368980186 | CFTR | c.1187A>G (p.Asn396Ser) c.*1084A>G (n.*1084A>G) c.*1011A>G (n.*1011A>G) c.944A>G (p.Asn315Ser) c.1097A>G (p.Asn366Ser) c.1277A>G (p.Asn426Ser) | gnomAD v4 |
7 | g.117542086A>T | CA368980188 | CFTR | c.1187A>T (p.Asn396Ile) c.*1084A>T (n.*1084A>T) c.*1011A>T (n.*1011A>T) c.944A>T (p.Asn315Ile) c.1097A>T (p.Asn366Ile) c.1277A>T (p.Asn426Ile) | |
7 | g.117542087T>A | CA368980191 | CFTR | c.1188T>A (p.Asn396Lys) c.*1085T>A (n.*1085T>A) c.*1012T>A (n.*1012T>A) c.945T>A (p.Asn315Lys) c.1098T>A (p.Asn366Lys) c.1278T>A (p.Asn426Lys) | |
7 | g.117542087T>C | CA457227670 | CFTR | c.1188T>C (p.Asn396=) c.*1085T>C (n.*1085T>C) c.*1012T>C (n.*1012T>C) c.945T>C (p.Asn315=) c.1098T>C (p.Asn366=) c.1278T>C (p.Asn426=) | dbSNP gnomAD v4 |
7 | g.117542087T>G | CA368980193 | CFTR | c.1188T>G (p.Asn396Lys) c.*1085T>G (n.*1085T>G) c.*1012T>G (n.*1012T>G) c.945T>G (p.Asn315Lys) c.1098T>G (p.Asn366Lys) c.1278T>G (p.Asn426Lys) | gnomAD v4 |
7 | g.117542087T= | CA1737335110 | CFTR | c.1188T= (p.Asn396=) c.*1085T= (n.*1085T=) c.*1012T= (n.*1012T=) c.945T= (p.Asn315=) c.1098T= (p.Asn366=) c.1278T= (p.Asn426=) | |
7 | g.117542088del | CA2580614235 | CFTR | c.1189del (p.Val397Ter) c.*1086del (n.*1086del) c.*1013del (n.*1013del) c.946del (p.Val316Ter) c.1099del (p.Val367Ter) c.1279del (p.Val427Ter) | ClinVar |
7 | g.117542088G>A | CA368980195 | CFTR | c.1189G>A (p.Val397Ile) c.*1086G>A (n.*1086G>A) c.*1013G>A (n.*1013G>A) c.946G>A (p.Val316Ile) c.1099G>A (p.Val367Ile) c.1279G>A (p.Val427Ile) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117542088G>C | CA368980198 | CFTR | c.1189G>C (p.Val397Leu) c.*1086G>C (n.*1086G>C) c.*1013G>C (n.*1013G>C) c.946G>C (p.Val316Leu) c.1099G>C (p.Val367Leu) c.1279G>C (p.Val427Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117542088G= | CA1737335113 | CFTR | c.1189G= (p.Val397=) c.*1086G= (n.*1086G=) c.*1013G= (n.*1013G=) c.946G= (p.Val316=) c.1099G= (p.Val367=) c.1279G= (p.Val427=) | |
7 | g.117542088G>T | CA368980201 | CFTR | c.1189G>T (p.Val397Leu) c.*1086G>T (n.*1086G>T) c.*1013G>T (n.*1013G>T) c.946G>T (p.Val316Leu) c.1099G>T (p.Val367Leu) c.1279G>T (p.Val427Leu) | |
7 | g.117542089T>A | CA368980204 | CFTR | c.1190T>A (p.Val397Glu) c.*1087T>A (n.*1087T>A) c.*1014T>A (n.*1014T>A) c.947T>A (p.Val316Glu) c.1100T>A (p.Val367Glu) c.1280T>A (p.Val427Glu) | |
7 | g.117542089T>C | CA368980208 | CFTR | c.1190T>C (p.Val397Ala) c.*1087T>C (n.*1087T>C) c.*1014T>C (n.*1014T>C) c.947T>C (p.Val316Ala) c.1100T>C (p.Val367Ala) c.1280T>C (p.Val427Ala) | dbSNP |
7 | g.117542089T>G | CA368980209 | CFTR | c.1190T>G (p.Val397Gly) c.*1087T>G (n.*1087T>G) c.*1014T>G (n.*1014T>G) c.947T>G (p.Val316Gly) c.1100T>G (p.Val367Gly) c.1280T>G (p.Val427Gly) | |
7 | g.117542089T= | CA1737335115 | CFTR | c.1190T= (p.Val397=) c.*1087T= (n.*1087T=) c.*1014T= (n.*1014T=) c.947T= (p.Val316=) c.1100T= (p.Val367=) c.1280T= (p.Val427=) | |
7 | g.117542089dup | CA2695199634 | CFTR | c.1190dup (p.Thr398AsnfsTer13) c.*1087dup (n.*1087dup) c.1190dup (p.Thr398AsnfsTer23) c.*1014dup (n.*1014dup) c.947dup (p.Thr317AsnfsTer23) c.947dup (p.Thr317AsnfsTer13) c.1100dup (p.Thr368AsnfsTer13) c.1280dup (p.Thr428AsnfsTer13) | ClinVar |
7 | g.117542090A>C | CA457227673 | CFTR | c.1191A>C (p.Val397=) c.*1088A>C (n.*1088A>C) c.*1015A>C (n.*1015A>C) c.948A>C (p.Val316=) c.1101A>C (p.Val367=) c.1281A>C (p.Val427=) | |
7 | g.117542090A>G | CA457227677 | CFTR | c.1191A>G (p.Val397=) c.*1088A>G (n.*1088A>G) c.*1015A>G (n.*1015A>G) c.948A>G (p.Val316=) c.1101A>G (p.Val367=) c.1281A>G (p.Val427=) | |
7 | g.117542090A>T | CA457227675 | CFTR | c.1191A>T (p.Val397=) c.*1088A>T (n.*1088A>T) c.*1015A>T (n.*1015A>T) c.948A>T (p.Val316=) c.1101A>T (p.Val367=) c.1281A>T (p.Val427=) | ClinVar gnomAD v4 |
7 | g.117542091dup | CA2695208314 | CFTR | c.1192dup (p.Thr398AsnfsTer13) c.*1089dup (n.*1089dup) c.1192dup (p.Thr398AsnfsTer23) c.*1016dup (n.*1016dup) c.949dup (p.Thr317AsnfsTer23) c.949dup (p.Thr317AsnfsTer13) c.1102dup (p.Thr368AsnfsTer13) c.1282dup (p.Thr428AsnfsTer13) | |
7 | g.117542091del | CA2684618296 | CFTR | c.1192del (p.Thr398GlnfsTer?) c.*1089del (n.*1089del) c.1192del (p.Thr398GlnfsTer10) c.*1016del (n.*1016del) c.949del (p.Thr317GlnfsTer10) c.949del (p.Thr317GlnfsTer?) c.1102del (p.Thr368GlnfsTer?) c.1282del (p.Thr428GlnfsTer?) | gnomAD v4 |
7 | g.117542091A>C | CA368980210 | CFTR | c.1192A>C (p.Thr398Pro) c.*1089A>C (n.*1089A>C) c.*1016A>C (n.*1016A>C) c.949A>C (p.Thr317Pro) c.1102A>C (p.Thr368Pro) c.1282A>C (p.Thr428Pro) | |
7 | g.117542091A>G | CA368980213 | CFTR | c.1192A>G (p.Thr398Ala) c.*1089A>G (n.*1089A>G) c.*1016A>G (n.*1016A>G) c.949A>G (p.Thr317Ala) c.1102A>G (p.Thr368Ala) c.1282A>G (p.Thr428Ala) | |
7 | g.117542091A>T | CA368980214 | CFTR | c.1192A>T (p.Thr398Ser) c.*1089A>T (n.*1089A>T) c.*1016A>T (n.*1016A>T) c.949A>T (p.Thr317Ser) c.1102A>T (p.Thr368Ser) c.1282A>T (p.Thr428Ser) | |
7 | g.117542092C>A | CA368980217 | CFTR | c.1193C>A (p.Thr398Lys) c.*1090C>A (n.*1090C>A) c.*1017C>A (n.*1017C>A) c.950C>A (p.Thr317Lys) c.1103C>A (p.Thr368Lys) c.1283C>A (p.Thr428Lys) | ClinVar gnomAD v4 |
7 | g.117542092C>G | CA368980219 | CFTR | c.1193C>G (p.Thr398Arg) c.*1090C>G (n.*1090C>G) c.*1017C>G (n.*1017C>G) c.950C>G (p.Thr317Arg) c.1103C>G (p.Thr368Arg) c.1283C>G (p.Thr428Arg) | |
7 | g.117542092C>T | CA368980220 | CFTR | c.1193C>T (p.Thr398Ile) c.*1090C>T (n.*1090C>T) c.*1017C>T (n.*1017C>T) c.950C>T (p.Thr317Ile) c.1103C>T (p.Thr368Ile) c.1283C>T (p.Thr428Ile) | ClinVar gnomAD v4 |
7 | g.117542093A>C | CA457227679 | CFTR | c.1194A>C (p.Thr398=) c.*1091A>C (n.*1091A>C) c.*1018A>C (n.*1018A>C) c.951A>C (p.Thr317=) c.1104A>C (p.Thr368=) c.1284A>C (p.Thr428=) | |
7 | g.117542093A>G | CA457227681 | CFTR | c.1194A>G (p.Thr398=) c.*1091A>G (n.*1091A>G) c.*1018A>G (n.*1018A>G) c.951A>G (p.Thr317=) c.1104A>G (p.Thr368=) c.1284A>G (p.Thr428=) | gnomAD v4 |
7 | g.117542093A>T | CA457227682 | CFTR | c.1194A>T (p.Thr398=) c.*1091A>T (n.*1091A>T) c.*1018A>T (n.*1018A>T) c.951A>T (p.Thr317=) c.1104A>T (p.Thr368=) c.1284A>T (p.Thr428=) | |
7 | g.117542094G>A | CA368980224 | CFTR | c.1195G>A (p.Ala399Thr) c.*1092G>A (n.*1092G>A) c.*1019G>A (n.*1019G>A) c.952G>A (p.Ala318Thr) c.1105G>A (p.Ala369Thr) c.1285G>A (p.Ala429Thr) | gnomAD v4 |
7 | g.117542094G>C | CA368980229 | CFTR | c.1195G>C (p.Ala399Pro) c.*1092G>C (n.*1092G>C) c.*1019G>C (n.*1019G>C) c.952G>C (p.Ala318Pro) c.1105G>C (p.Ala369Pro) c.1285G>C (p.Ala429Pro) | |
7 | g.117542094G>T | CA368980226 | CFTR | c.1195G>T (p.Ala399Ser) c.*1092G>T (n.*1092G>T) c.*1019G>T (n.*1019G>T) c.952G>T (p.Ala318Ser) c.1105G>T (p.Ala369Ser) c.1285G>T (p.Ala429Ser) | gnomAD v4 |
7 | g.117542094_117542095delinsGC | CA1737335118 | CFTR | c.1195_1196delinsGC (p.Ala399=) c.*1092_*1093delinsGC (n.*1092_*1093delinsGC) c.*1019_*1020delinsGC (n.*1019_*1020delinsGC) c.952_953delinsGC (p.Ala318=) c.1105_1106delinsGC (p.Ala369=) c.1285_1286delinsGC (p.Ala429=) | |
7 | g.117542095C>A | CA326429 | CFTR | c.1196C>A (p.Ala399Asp) c.*1093C>A (n.*1093C>A) c.*1020C>A (n.*1020C>A) c.953C>A (p.Ala318Asp) c.1106C>A (p.Ala369Asp) c.1286C>A (p.Ala429Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.117542095C= | CA1737335128 | CFTR | c.1196C= (p.Ala399=) c.*1093C= (n.*1093C=) c.*1020C= (n.*1020C=) c.953C= (p.Ala318=) c.1106C= (p.Ala369=) c.1286C= (p.Ala429=) | |
7 | g.117542095C>G | CA4450919 | CFTR | c.1196C>G (p.Ala399Gly) c.*1093C>G (n.*1093C>G) c.*1020C>G (n.*1020C>G) c.953C>G (p.Ala318Gly) c.1106C>G (p.Ala369Gly) c.1286C>G (p.Ala429Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542095C>T | CA4450918 | CFTR | c.1196C>T (p.Ala399Val) c.*1093C>T (n.*1093C>T) c.*1020C>T (n.*1020C>T) c.953C>T (p.Ala318Val) c.1106C>T (p.Ala369Val) c.1286C>T (p.Ala429Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542096del | CA913189995 | CFTR | c.1197del (p.Phe400SerfsTer?) c.*1094del (n.*1094del) c.1197del (p.Phe400SerfsTer8) c.*1021del (n.*1021del) c.954del (p.Phe319SerfsTer8) c.954del (p.Phe319SerfsTer?) c.1107del (p.Phe370SerfsTer?) c.1287del (p.Phe430SerfsTer?) | ClinVar dbSNP |
7 | g.117542096C>A | CA457227684 | CFTR | c.1197C>A (p.Ala399=) c.*1094C>A (n.*1094C>A) c.*1021C>A (n.*1021C>A) c.954C>A (p.Ala318=) c.1107C>A (p.Ala369=) c.1287C>A (p.Ala429=) | gnomAD v4 |
7 | g.117542096C= | CA1737335139 | CFTR | c.1197C= (p.Ala399=) c.*1094C= (n.*1094C=) c.*1021C= (n.*1021C=) c.954C= (p.Ala318=) c.1107C= (p.Ala369=) c.1287C= (p.Ala429=) | |
7 | g.117542096C>G | CA457227686 | CFTR | c.1197C>G (p.Ala399=) c.*1094C>G (n.*1094C>G) c.*1021C>G (n.*1021C>G) c.954C>G (p.Ala318=) c.1107C>G (p.Ala369=) c.1287C>G (p.Ala429=) | |
7 | g.117542096C>T | CA4450920 | CFTR | c.1197C>T (p.Ala399=) c.*1094C>T (n.*1094C>T) c.*1021C>T (n.*1021C>T) c.954C>T (p.Ala318=) c.1107C>T (p.Ala369=) c.1287C>T (p.Ala429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117542097T>A | CA368980238 | CFTR | c.1198T>A (p.Phe400Ile) c.*1095T>A (n.*1095T>A) c.*1022T>A (n.*1022T>A) c.955T>A (p.Phe319Ile) c.1108T>A (p.Phe370Ile) c.1288T>A (p.Phe430Ile) | |
7 | g.117542097T>C | CA368980240 | CFTR | c.1198T>C (p.Phe400Leu) c.*1095T>C (n.*1095T>C) c.*1022T>C (n.*1022T>C) c.955T>C (p.Phe319Leu) c.1108T>C (p.Phe370Leu) c.1288T>C (p.Phe430Leu) | gnomAD v4 |
7 | g.117542097T>G | CA368980244 | CFTR | c.1198T>G (p.Phe400Val) c.*1095T>G (n.*1095T>G) c.*1022T>G (n.*1022T>G) c.955T>G (p.Phe319Val) c.1108T>G (p.Phe370Val) c.1288T>G (p.Phe430Val) | |
7 | g.117542098T>A | CA368980256 | CFTR | c.1199T>A (p.Phe400Tyr) c.*1096T>A (n.*1096T>A) c.*1023T>A (n.*1023T>A) c.956T>A (p.Phe319Tyr) c.1109T>A (p.Phe370Tyr) c.1289T>A (p.Phe430Tyr) | |
7 | g.117542098T>C | CA368980247 | CFTR | c.1199T>C (p.Phe400Ser) c.*1096T>C (n.*1096T>C) c.*1023T>C (n.*1023T>C) c.956T>C (p.Phe319Ser) c.1109T>C (p.Phe370Ser) c.1289T>C (p.Phe430Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542098T>G | CA368980250 | CFTR | c.1199T>G (p.Phe400Cys) c.*1096T>G (n.*1096T>G) c.*1023T>G (n.*1023T>G) c.956T>G (p.Phe319Cys) c.1109T>G (p.Phe370Cys) c.1289T>G (p.Phe430Cys) | |
7 | g.117542098T= | CA1737335146 | CFTR | c.1199T= (p.Phe400=) c.*1096T= (n.*1096T=) c.*1023T= (n.*1023T=) c.956T= (p.Phe319=) c.1109T= (p.Phe370=) c.1289T= (p.Phe430=) | |
7 | g.117542099C>A | CA368980259 | CFTR | c.1200C>A (p.Phe400Leu) c.*1097C>A (n.*1097C>A) c.*1024C>A (n.*1024C>A) c.957C>A (p.Phe319Leu) c.1110C>A (p.Phe370Leu) c.1290C>A (p.Phe430Leu) | gnomAD v4 |
7 | g.117542099C>G | CA368980261 | CFTR | c.1200C>G (p.Phe400Leu) c.*1097C>G (n.*1097C>G) c.*1024C>G (n.*1024C>G) c.957C>G (p.Phe319Leu) c.1110C>G (p.Phe370Leu) c.1290C>G (p.Phe430Leu) | |
7 | g.117542099C>T | CA457227688 | CFTR | c.1200C>T (p.Phe400=) c.*1097C>T (n.*1097C>T) c.*1024C>T (n.*1024C>T) c.957C>T (p.Phe319=) c.1110C>T (p.Phe370=) c.1290C>T (p.Phe430=) | |
7 | g.117542100T>A | CA368980264 | CFTR | c.1201T>A (p.Trp401Arg) c.*1098T>A (n.*1098T>A) c.*1025T>A (n.*1025T>A) c.958T>A (p.Trp320Arg) c.1111T>A (p.Trp371Arg) c.1291T>A (p.Trp431Arg) | |
7 | g.117542100T>C | CA368980266 | CFTR | c.1201T>C (p.Trp401Arg) c.*1098T>C (n.*1098T>C) c.*1025T>C (n.*1025T>C) c.958T>C (p.Trp320Arg) c.1111T>C (p.Trp371Arg) c.1291T>C (p.Trp431Arg) | ClinVar |
7 | g.117542100T>G | CA368980269 | CFTR | c.1201T>G (p.Trp401Gly) c.*1098T>G (n.*1098T>G) c.*1025T>G (n.*1025T>G) c.958T>G (p.Trp320Gly) c.1111T>G (p.Trp371Gly) c.1291T>G (p.Trp431Gly) | |
7 | g.117542101G>A | CA328081 | CFTR | c.1202G>A (p.Trp401Ter) c.*1099G>A (n.*1099G>A) c.*1026G>A (n.*1026G>A) c.959G>A (p.Trp320Ter) c.1112G>A (p.Trp371Ter) c.1292G>A (p.Trp431Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117542101G>C | CA368980275 | CFTR | c.1202G>C (p.Trp401Ser) c.*1099G>C (n.*1099G>C) c.*1026G>C (n.*1026G>C) c.959G>C (p.Trp320Ser) c.1112G>C (p.Trp371Ser) c.1292G>C (p.Trp431Ser) | |
7 | g.117542101G= | CA1737335153 | CFTR | c.1202G= (p.Trp401=) c.*1099G= (n.*1099G=) c.*1026G= (n.*1026G=) c.959G= (p.Trp320=) c.1112G= (p.Trp371=) c.1292G= (p.Trp431=) | |
7 | g.117542101G>T | CA4450921 | CFTR | c.1202G>T (p.Trp401Leu) c.*1099G>T (n.*1099G>T) c.*1026G>T (n.*1026G>T) c.959G>T (p.Trp320Leu) c.1112G>T (p.Trp371Leu) c.1292G>T (p.Trp431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542102G>A | CA328083 | CFTR | c.1203G>A (p.Trp401Ter) c.*1100G>A (n.*1100G>A) c.*1027G>A (n.*1027G>A) c.960G>A (p.Trp320Ter) c.1113G>A (p.Trp371Ter) c.1293G>A (p.Trp431Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117542102G>C | CA4450922 | CFTR | c.1203G>C (p.Trp401Cys) c.*1100G>C (n.*1100G>C) c.*1027G>C (n.*1027G>C) c.960G>C (p.Trp320Cys) c.1113G>C (p.Trp371Cys) c.1293G>C (p.Trp431Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117542102G= | CA1737335164 | CFTR | c.1203G= (p.Trp401=) c.*1100G= (n.*1100G=) c.*1027G= (n.*1027G=) c.960G= (p.Trp320=) c.1113G= (p.Trp371=) c.1293G= (p.Trp431=) | |
7 | g.117542102G>T | CA368980281 | CFTR | c.1203G>T (p.Trp401Cys) c.*1100G>T (n.*1100G>T) c.*1027G>T (n.*1027G>T) c.960G>T (p.Trp320Cys) c.1113G>T (p.Trp371Cys) c.1293G>T (p.Trp431Cys) | |
7 | g.117542103G>A | CA368980284 | CFTR | c.1204G>A (p.Glu402Lys) c.*1101G>A (n.*1101G>A) c.*1028G>A (n.*1028G>A) c.961G>A (p.Glu321Lys) c.1114G>A (p.Glu372Lys) c.1294G>A (p.Glu432Lys) | gnomAD v4 |
7 | g.117542103G>C | CA368980287 | CFTR | c.1204G>C (p.Glu402Gln) c.*1101G>C (n.*1101G>C) c.*1028G>C (n.*1028G>C) c.961G>C (p.Glu321Gln) c.1114G>C (p.Glu372Gln) c.1294G>C (p.Glu432Gln) | gnomAD v4 |
7 | g.117542103G>T | CA368980288 | CFTR | c.1204G>T (p.Glu402Ter) c.*1101G>T (n.*1101G>T) c.*1028G>T (n.*1028G>T) c.961G>T (p.Glu321Ter) c.1114G>T (p.Glu372Ter) c.1294G>T (p.Glu432Ter) | |
7 | g.117542104del | CA2578999967 | CFTR | c.1205del (p.Glu402GlyfsTer?) c.*1102del (n.*1102del) c.1205del (p.Glu402GlyfsTer6) c.*1029del (n.*1029del) c.962del (p.Glu321GlyfsTer6) c.962del (p.Glu321GlyfsTer?) c.1115del (p.Glu372GlyfsTer?) c.1295del (p.Glu432GlyfsTer?) | |
7 | g.117542104A>C | CA368980291 | CFTR | c.1205A>C (p.Glu402Ala) c.*1102A>C (n.*1102A>C) c.*1029A>C (n.*1029A>C) c.962A>C (p.Glu321Ala) c.1115A>C (p.Glu372Ala) c.1295A>C (p.Glu432Ala) | |
7 | g.117542104A>G | CA368980294 | CFTR | c.1205A>G (p.Glu402Gly) c.*1102A>G (n.*1102A>G) c.*1029A>G (n.*1029A>G) c.962A>G (p.Glu321Gly) c.1115A>G (p.Glu372Gly) c.1295A>G (p.Glu432Gly) | gnomAD v4 |
7 | g.117542104A>T | CA368980308 | CFTR | c.1205A>T (p.Glu402Val) c.*1102A>T (n.*1102A>T) c.*1029A>T (n.*1029A>T) c.962A>T (p.Glu321Val) c.1115A>T (p.Glu372Val) c.1295A>T (p.Glu432Val) | |
7 | g.117542105G>A | CA457227694 | CFTR | c.1206G>A (p.Glu402=) c.*1103G>A (n.*1103G>A) c.*1030G>A (n.*1030G>A) c.963G>A (p.Glu321=) c.1116G>A (p.Glu372=) c.1296G>A (p.Glu432=) | gnomAD v4 |
7 | g.117542105G>C | CA368980311 | CFTR | c.1206G>C (p.Glu402Asp) c.*1103G>C (n.*1103G>C) c.*1030G>C (n.*1030G>C) c.963G>C (p.Glu321Asp) c.1116G>C (p.Glu372Asp) c.1296G>C (p.Glu432Asp) | |
7 | g.117542105G= | CA1737335167 | CFTR | c.1206G= (p.Glu402=) c.*1103G= (n.*1103G=) c.*1030G= (n.*1030G=) c.963G= (p.Glu321=) c.1116G= (p.Glu372=) c.1296G= (p.Glu432=) | |
7 | g.117542105G>T | CA368980312 | CFTR | c.1206G>T (p.Glu402Asp) c.*1103G>T (n.*1103G>T) c.*1030G>T (n.*1030G>T) c.963G>T (p.Glu321Asp) c.1116G>T (p.Glu372Asp) c.1296G>T (p.Glu432Asp) | dbSNP |
7 | g.117542106G>A | CA368980314 | CFTR | c.1207G>A (p.Glu403Lys) c.*1104G>A (n.*1104G>A) c.*1031G>A (n.*1031G>A) c.964G>A (p.Glu322Lys) c.1117G>A (p.Glu373Lys) c.1297G>A (p.Glu433Lys) | gnomAD v4 |
7 | g.117542106G>C | CA368980317 | CFTR | c.1207G>C (p.Glu403Gln) c.*1104G>C (n.*1104G>C) c.*1031G>C (n.*1031G>C) c.964G>C (p.Glu322Gln) c.1117G>C (p.Glu373Gln) c.1297G>C (p.Glu433Gln) | |
7 | g.117542106G>T | CA368980316 | CFTR | c.1207G>T (p.Glu403Ter) c.*1104G>T (n.*1104G>T) c.*1031G>T (n.*1031G>T) c.964G>T (p.Glu322Ter) c.1117G>T (p.Glu373Ter) c.1297G>T (p.Glu433Ter) | |
7 | g.117542107A>C | CA368980319 | CFTR | c.1208A>C (p.Glu403Ala) c.*1105A>C (n.*1105A>C) c.*1032A>C (n.*1032A>C) c.965A>C (p.Glu322Ala) c.1118A>C (p.Glu373Ala) c.1298A>C (p.Glu433Ala) | |
7 | g.117542107A>G | CA368980322 | CFTR | c.1208A>G (p.Glu403Gly) c.*1105A>G (n.*1105A>G) c.*1032A>G (n.*1032A>G) c.965A>G (p.Glu322Gly) c.1118A>G (p.Glu373Gly) c.1298A>G (p.Glu433Gly) | gnomAD v4 |
7 | g.117542107A>T | CA368980323 | CFTR | c.1208A>T (p.Glu403Val) c.*1105A>T (n.*1105A>T) c.*1032A>T (n.*1032A>T) c.965A>T (p.Glu322Val) c.1118A>T (p.Glu373Val) c.1298A>T (p.Glu433Val) | |
7 | g.117542108G>A | CA326433 | CFTR | c.1209G>A (p.Glu403=) c.*1106G>A (n.*1106G>A) c.*1033G>A (n.*1033G>A) c.966G>A (p.Glu322=) c.1119G>A (p.Glu373=) c.1299G>A (p.Glu433=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117542108G>C | CA326435 | CFTR | c.1209G>C (p.Glu403Asp) c.*1106G>C (n.*1106G>C) c.*1033G>C (n.*1033G>C) c.966G>C (p.Glu322Asp) c.1119G>C (p.Glu373Asp) c.1299G>C (p.Glu433Asp) | ClinVar dbSNP |
7 | g.117542108G= | CA1737335174 | CFTR | c.1209G= (p.Glu403=) c.*1106G= (n.*1106G=) c.*1033G= (n.*1033G=) c.966G= (p.Glu322=) c.1119G= (p.Glu373=) c.1299G= (p.Glu433=) | |
7 | g.117542108G>T | CA368980326 | CFTR | c.1209G>T (p.Glu403Asp) c.*1106G>T (n.*1106G>T) c.*1033G>T (n.*1033G>T) c.966G>T (p.Glu322Asp) c.1119G>T (p.Glu373Asp) c.1299G>T (p.Glu433Asp) | ClinVar |
7 | g.117542109G>A | CA328084 | CFTR | c.1209+1G>A (n.1209+1G>A) c.*1106+1G>A (n.*1106+1G>A) c.*1033+1G>A (n.*1033+1G>A) c.966+1G>A (n.966+1G>A) c.1119+1G>A (n.1119+1G>A) c.1299+1G>A (n.1299+1G>A) | ClinVar dbSNP gnomAD v4 |
7 | g.117542109G>C | CA368980328 | CFTR | c.1209+1G>C (n.1209+1G>C) c.*1106+1G>C (n.*1106+1G>C) c.*1033+1G>C (n.*1033+1G>C) c.966+1G>C (n.966+1G>C) c.1119+1G>C (n.1119+1G>C) c.1299+1G>C (n.1299+1G>C) | ClinVar |
7 | g.117542109G= | CA1737335189 | CFTR | c.1209+1G= (n.1209+1G=) c.*1106+1G= (n.*1106+1G=) c.*1033+1G= (n.*1033+1G=) c.966+1G= (n.966+1G=) c.1119+1G= (n.1119+1G=) c.1299+1G= (n.1299+1G=) | |
7 | g.117542109G>T | CA16041129 | CFTR | c.1209+1G>T (n.1209+1G>T) c.*1106+1G>T (n.*1106+1G>T) c.*1033+1G>T (n.*1033+1G>T) c.966+1G>T (n.966+1G>T) c.1119+1G>T (n.1119+1G>T) c.1299+1G>T (n.1299+1G>T) | ClinVar dbSNP |
7 | g.117542109_117542159delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT | CA1737335196 | CFTR | c.1209+1_1209+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT (n.1209+1_1209+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT) c.*1106+1_*1106+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT (n.*1106+1_*1106+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT) c.*1033+1_*1033+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT (n.*1033+1_*1033+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT) c.966+1_966+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT (n.966+1_966+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT) c.1119+1_1119+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT (n.1119+1_1119+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT) c.1299+1_1299+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT (n.1299+1_1299+51delinsGTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT) | |
7 | g.117542110T>A | CA368980330 | CFTR | c.1209+2T>A (n.1209+2T>A) c.*1106+2T>A (n.*1106+2T>A) c.*1033+2T>A (n.*1033+2T>A) c.966+2T>A (n.966+2T>A) c.1119+2T>A (n.1119+2T>A) c.1299+2T>A (n.1299+2T>A) | ClinVar |
7 | g.117542110T>C | CA368980332 | CFTR | c.1209+2T>C (n.1209+2T>C) c.*1106+2T>C (n.*1106+2T>C) c.*1033+2T>C (n.*1033+2T>C) c.966+2T>C (n.966+2T>C) c.1119+2T>C (n.1119+2T>C) c.1299+2T>C (n.1299+2T>C) | gnomAD v4 |
7 | g.117542110T>G | CA368980333 | CFTR | c.1209+2T>G (n.1209+2T>G) c.*1106+2T>G (n.*1106+2T>G) c.*1033+2T>G (n.*1033+2T>G) c.966+2T>G (n.966+2T>G) c.1119+2T>G (n.1119+2T>G) c.1299+2T>G (n.1299+2T>G) | ClinVar dbSNP |
7 | g.117542110T= | CA1737335208 | CFTR | c.1209+2T= (n.1209+2T=) c.*1106+2T= (n.*1106+2T=) c.*1033+2T= (n.*1033+2T=) c.966+2T= (n.966+2T=) c.1119+2T= (n.1119+2T=) c.1299+2T= (n.1299+2T=) | |
7 | g.117542111_117542160del | CA577215198 | CFTR | c.1209+3_1209+52del (n.1209+3_1209+52del) c.*1106+3_*1106+52del (n.*1106+3_*1106+52del) c.*1033+3_*1033+52del (n.*1033+3_*1033+52del) c.966+3_966+52del (n.966+3_966+52del) c.1119+3_1119+52del (n.1119+3_1119+52del) c.1299+3_1299+52del (n.1299+3_1299+52del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542111C>A | CA2684618297 | CFTR | c.1209+3C>A (n.1209+3C>A) c.*1106+3C>A (n.*1106+3C>A) c.*1033+3C>A (n.*1033+3C>A) c.966+3C>A (n.966+3C>A) c.1119+3C>A (n.1119+3C>A) c.1299+3C>A (n.1299+3C>A) | gnomAD v4 |
7 | g.117542112A>G | CA2684618298 | CFTR | c.1209+4A>G (n.1209+4A>G) c.*1106+4A>G (n.*1106+4A>G) c.*1033+4A>G (n.*1033+4A>G) c.966+4A>G (n.966+4A>G) c.1119+4A>G (n.1119+4A>G) c.1299+4A>G (n.1299+4A>G) | gnomAD v4 |
7 | g.117542113G>A | CA2684618299 | CFTR | c.1209+5G>A (n.1209+5G>A) c.*1106+5G>A (n.*1106+5G>A) c.*1033+5G>A (n.*1033+5G>A) c.966+5G>A (n.966+5G>A) c.1119+5G>A (n.1119+5G>A) c.1299+5G>A (n.1299+5G>A) | gnomAD v4 |
7 | g.117542114A= | CA1737335219 | CFTR | c.1209+6A= (n.1209+6A=) c.*1106+6A= (n.*1106+6A=) c.*1033+6A= (n.*1033+6A=) c.966+6A= (n.966+6A=) c.1119+6A= (n.1119+6A=) c.1299+6A= (n.1299+6A=) | |
7 | g.117542114A>G | CA4450923 | CFTR | c.1209+6A>G (n.1209+6A>G) c.*1106+6A>G (n.*1106+6A>G) c.*1033+6A>G (n.*1033+6A>G) c.966+6A>G (n.966+6A>G) c.1119+6A>G (n.1119+6A>G) c.1299+6A>G (n.1299+6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542114A>T | CA2578999969 | CFTR | c.1209+6A>T (n.1209+6A>T) c.*1106+6A>T (n.*1106+6A>T) c.*1033+6A>T (n.*1033+6A>T) c.966+6A>T (n.966+6A>T) c.1119+6A>T (n.1119+6A>T) c.1299+6A>T (n.1299+6A>T) | |
7 | g.117542115A= | CA1737335222 | CFTR | c.1209+7A= (n.1209+7A=) c.*1106+7A= (n.*1106+7A=) c.*1033+7A= (n.*1033+7A=) c.966+7A= (n.966+7A=) c.1119+7A= (n.1119+7A=) c.1299+7A= (n.1299+7A=) | |
7 | g.117542115A>T | CA4450924 | CFTR | c.1209+7A>T (n.1209+7A>T) c.*1106+7A>T (n.*1106+7A>T) c.*1033+7A>T (n.*1033+7A>T) c.966+7A>T (n.966+7A>T) c.1119+7A>T (n.1119+7A>T) c.1299+7A>T (n.1299+7A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117542116T>G | CA4450925 | CFTR | c.1209+8T>G (n.1209+8T>G) c.*1106+8T>G (n.*1106+8T>G) c.*1033+8T>G (n.*1033+8T>G) c.966+8T>G (n.966+8T>G) c.1119+8T>G (n.1119+8T>G) c.1299+8T>G (n.1299+8T>G) | dbSNP ExAC gnomAD v2 |
7 | g.117542116T= | CA1737335229 | CFTR | c.1209+8T= (n.1209+8T=) c.*1106+8T= (n.*1106+8T=) c.*1033+8T= (n.*1033+8T=) c.966+8T= (n.966+8T=) c.1119+8T= (n.1119+8T=) c.1299+8T= (n.1299+8T=) | |
7 | g.117542120del | CA2684618300 | CFTR | c.1209+12del (n.1209+12del) c.*1106+12del (n.*1106+12del) c.*1033+12del (n.*1033+12del) c.966+12del (n.966+12del) c.1119+12del (n.1119+12del) c.1299+12del (n.1299+12del) | gnomAD v4 |