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