| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 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) |