| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
| 7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
| 7 | g.117540118_117540119dup | CA16041128 | CFTR | c.888_889dup (p.Arg297LeufsTer7) c.*785_*786dup (n.*785_*786dup) c.*712_*713dup (n.*712_*713dup) c.645_646dup (p.Arg216LeufsTer7) c.798_799dup (p.Arg267LeufsTer7) c.978_979dup (p.Arg327LeufsTer7) | ClinVar dbSNP |
| 7 | g.117540118T>A | CA457448563 | CFTR | c.888T>A (p.Thr296=) c.*785T>A (n.*785T>A) c.*712T>A (n.*712T>A) c.645T>A (p.Thr215=) c.798T>A (p.Thr266=) c.978T>A (p.Thr326=) | |
| 7 | g.117540118T>C | CA164953413 | CFTR | c.888T>C (p.Thr296=) c.*785T>C (n.*785T>C) c.*712T>C (n.*712T>C) c.645T>C (p.Thr215=) c.798T>C (p.Thr266=) c.978T>C (p.Thr326=) | dbSNP |
| 7 | g.117540118T>G | CA457448565 | CFTR | c.888T>G (p.Thr296=) c.*785T>G (n.*785T>G) c.*712T>G (n.*712T>G) c.645T>G (p.Thr215=) c.798T>G (p.Thr266=) c.978T>G (p.Thr326=) | |
| 7 | g.117540118T= | CA1737331825 | CFTR | c.888T= (p.Thr296=) c.*785T= (n.*785T=) c.*712T= (n.*712T=) c.645T= (p.Thr215=) c.798T= (p.Thr266=) c.978T= (p.Thr326=) | |
| 7 | g.117540119C>A | CA4450861 | CFTR | c.889C>A (p.Arg297=) c.*786C>A (n.*786C>A) c.*713C>A (n.*713C>A) c.646C>A (p.Arg216=) c.799C>A (p.Arg267=) c.979C>A (p.Arg327=) | dbSNP ExAC gnomAD v2 |
| 7 | g.117540119C= | CA1737331826 | CFTR | c.889C= (p.Arg297=) c.*786C= (n.*786C=) c.*713C= (n.*713C=) c.646C= (p.Arg216=) c.799C= (p.Arg267=) c.979C= (p.Arg327=) | |
| 7 | g.117540119C>G | CA368977955 | CFTR | c.889C>G (p.Arg297Gly) c.*786C>G (n.*786C>G) c.*713C>G (n.*713C>G) c.646C>G (p.Arg216Gly) c.799C>G (p.Arg267Gly) c.979C>G (p.Arg327Gly) | dbSNP |
| 7 | g.117540119C>T | CA327683 | CFTR | c.889C>T (p.Arg297Trp) c.*786C>T (n.*786C>T) c.*713C>T (n.*713C>T) c.646C>T (p.Arg216Trp) c.799C>T (p.Arg267Trp) c.979C>T (p.Arg327Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540120G>A | CA203580 | CFTR | c.890G>A (p.Arg297Gln) c.*787G>A (n.*787G>A) c.*714G>A (n.*714G>A) c.647G>A (p.Arg216Gln) c.800G>A (p.Arg267Gln) c.980G>A (p.Arg327Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540120G>C | CA368977963 | CFTR | c.890G>C (p.Arg297Pro) c.*787G>C (n.*787G>C) c.*714G>C (n.*714G>C) c.647G>C (p.Arg216Pro) c.800G>C (p.Arg267Pro) c.980G>C (p.Arg327Pro) | |
| 7 | g.117540120G= | CA1737331827 | CFTR | c.890G= (p.Arg297=) c.*787G= (n.*787G=) c.*714G= (n.*714G=) c.647G= (p.Arg216=) c.800G= (p.Arg267=) c.980G= (p.Arg327=) | |
| 7 | g.117540120G>T | CA368977965 | CFTR | c.890G>T (p.Arg297Leu) c.*787G>T (n.*787G>T) c.*714G>T (n.*714G>T) c.647G>T (p.Arg216Leu) c.800G>T (p.Arg267Leu) c.980G>T (p.Arg327Leu) | |
| 7 | g.117540121G>A | CA457448569 | CFTR | c.891G>A (p.Arg297=) c.*788G>A (n.*788G>A) c.*715G>A (n.*715G>A) c.648G>A (p.Arg216=) c.801G>A (p.Arg267=) c.981G>A (p.Arg327=) | ClinVar |
| 7 | g.117540121G>C | CA457448570 | CFTR | c.891G>C (p.Arg297=) c.*788G>C (n.*788G>C) c.*715G>C (n.*715G>C) c.648G>C (p.Arg216=) c.801G>C (p.Arg267=) c.981G>C (p.Arg327=) | |
| 7 | g.117540121G>T | CA457448572 | CFTR | c.891G>T (p.Arg297=) c.*788G>T (n.*788G>T) c.*715G>T (n.*715G>T) c.648G>T (p.Arg216=) c.801G>T (p.Arg267=) c.981G>T (p.Arg327=) | |
| 7 | g.117540122A= | CA1737331828 | CFTR | c.892A= (p.Lys298=) c.*789A= (n.*789A=) c.*716A= (n.*716A=) c.649A= (p.Lys217=) c.802A= (p.Lys268=) c.982A= (p.Lys328=) | |
| 7 | g.117540122A>C | CA368977968 | CFTR | c.892A>C (p.Lys298Gln) c.*789A>C (n.*789A>C) c.*716A>C (n.*716A>C) c.649A>C (p.Lys217Gln) c.802A>C (p.Lys268Gln) c.982A>C (p.Lys328Gln) | |
| 7 | g.117540122A>G | CA368977971 | CFTR | c.892A>G (p.Lys298Glu) c.*789A>G (n.*789A>G) c.*716A>G (n.*716A>G) c.649A>G (p.Lys217Glu) c.802A>G (p.Lys268Glu) c.982A>G (p.Lys328Glu) | |
| 7 | g.117540122A>T | CA368977969 | CFTR | c.892A>T (p.Lys298Ter) c.*789A>T (n.*789A>T) c.*716A>T (n.*716A>T) c.649A>T (p.Lys217Ter) c.802A>T (p.Lys268Ter) c.982A>T (p.Lys328Ter) | ClinVar dbSNP |
| 7 | g.117540123A= | CA1737331829 | CFTR | c.893A= (p.Lys298=) c.*790A= (n.*790A=) c.*717A= (n.*717A=) c.650A= (p.Lys217=) c.803A= (p.Lys268=) c.983A= (p.Lys328=) | |
| 7 | g.117540123A>C | CA368977978 | CFTR | c.893A>C (p.Lys298Thr) c.*790A>C (n.*790A>C) c.*717A>C (n.*717A>C) c.650A>C (p.Lys217Thr) c.803A>C (p.Lys268Thr) c.983A>C (p.Lys328Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540123A>G | CA368977981 | CFTR | c.893A>G (p.Lys298Arg) c.*790A>G (n.*790A>G) c.*717A>G (n.*717A>G) c.650A>G (p.Lys217Arg) c.803A>G (p.Lys268Arg) c.983A>G (p.Lys328Arg) | |
| 7 | g.117540123A>T | CA368977984 | CFTR | c.893A>T (p.Lys298Met) c.*790A>T (n.*790A>T) c.*717A>T (n.*717A>T) c.650A>T (p.Lys217Met) c.803A>T (p.Lys268Met) c.983A>T (p.Lys328Met) | |
| 7 | g.117540124G>A | CA457448575 | CFTR | c.894G>A (p.Lys298=) c.*791G>A (n.*791G>A) c.*718G>A (n.*718G>A) c.651G>A (p.Lys217=) c.804G>A (p.Lys268=) c.984G>A (p.Lys328=) | ClinVar |
| 7 | g.117540124G>C | CA368977988 | CFTR | c.894G>C (p.Lys298Asn) c.*791G>C (n.*791G>C) c.*718G>C (n.*718G>C) c.651G>C (p.Lys217Asn) c.804G>C (p.Lys268Asn) c.984G>C (p.Lys328Asn) | |
| 7 | g.117540124G>T | CA368977990 | CFTR | c.894G>T (p.Lys298Asn) c.*791G>T (n.*791G>T) c.*718G>T (n.*718G>T) c.651G>T (p.Lys217Asn) c.804G>T (p.Lys268Asn) c.984G>T (p.Lys328Asn) | |
| 7 | g.117540125G>A | CA368977993 | CFTR | c.895G>A (p.Ala299Thr) c.*792G>A (n.*792G>A) c.*719G>A (n.*719G>A) c.652G>A (p.Ala218Thr) c.805G>A (p.Ala269Thr) c.985G>A (p.Ala329Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540125G>C | CA368977996 | CFTR | c.895G>C (p.Ala299Pro) c.*792G>C (n.*792G>C) c.*719G>C (n.*719G>C) c.652G>C (p.Ala218Pro) c.805G>C (p.Ala269Pro) c.985G>C (p.Ala329Pro) | |
| 7 | g.117540125G= | CA1737331830 | CFTR | c.895G= (p.Ala299=) c.*792G= (n.*792G=) c.*719G= (n.*719G=) c.652G= (p.Ala218=) c.805G= (p.Ala269=) c.985G= (p.Ala329=) | |
| 7 | g.117540125G>T | CA368977999 | CFTR | c.895G>T (p.Ala299Ser) c.*792G>T (n.*792G>T) c.*719G>T (n.*719G>T) c.652G>T (p.Ala218Ser) c.805G>T (p.Ala269Ser) c.985G>T (p.Ala329Ser) | |
| 7 | g.117540126C>A | CA368978002 | CFTR | c.896C>A (p.Ala299Glu) c.*793C>A (n.*793C>A) c.*720C>A (n.*720C>A) c.653C>A (p.Ala218Glu) c.806C>A (p.Ala269Glu) c.986C>A (p.Ala329Glu) | dbSNP |
| 7 | g.117540126C= | CA1737331831 | CFTR | c.896C= (p.Ala299=) c.*793C= (n.*793C=) c.*720C= (n.*720C=) c.653C= (p.Ala218=) c.806C= (p.Ala269=) c.986C= (p.Ala329=) | |
| 7 | g.117540126C>G | CA368978006 | CFTR | c.896C>G (p.Ala299Gly) c.*793C>G (n.*793C>G) c.*720C>G (n.*720C>G) c.653C>G (p.Ala218Gly) c.806C>G (p.Ala269Gly) c.986C>G (p.Ala329Gly) | |
| 7 | g.117540126C>T | CA368978007 | CFTR | c.896C>T (p.Ala299Val) c.*793C>T (n.*793C>T) c.*720C>T (n.*720C>T) c.653C>T (p.Ala218Val) c.806C>T (p.Ala269Val) c.986C>T (p.Ala329Val) | ClinVar gnomAD v4 |
| 7 | g.117540127A= | CA1737331832 | CFTR | c.897A= (p.Ala299=) c.*794A= (n.*794A=) c.*721A= (n.*721A=) c.654A= (p.Ala218=) c.807A= (p.Ala269=) c.987A= (p.Ala329=) | |
| 7 | g.117540127A>C | CA457448580 | CFTR | c.897A>C (p.Ala299=) c.*794A>C (n.*794A>C) c.*721A>C (n.*721A>C) c.654A>C (p.Ala218=) c.807A>C (p.Ala269=) c.987A>C (p.Ala329=) | gnomAD v4 |
| 7 | g.117540127A>G | CA457448581 | CFTR | c.897A>G (p.Ala299=) c.*794A>G (n.*794A>G) c.*721A>G (n.*721A>G) c.654A>G (p.Ala218=) c.807A>G (p.Ala269=) c.987A>G (p.Ala329=) | |
| 7 | g.117540127A>T | CA164953432 | CFTR | c.897A>T (p.Ala299=) c.*794A>T (n.*794A>T) c.*721A>T (n.*721A>T) c.654A>T (p.Ala218=) c.807A>T (p.Ala269=) c.987A>T (p.Ala329=) | dbSNP |
| 7 | g.117540128G>A | CA368978012 | CFTR | c.898G>A (p.Ala300Thr) c.*795G>A (n.*795G>A) c.*722G>A (n.*722G>A) c.655G>A (p.Ala219Thr) c.808G>A (p.Ala270Thr) c.988G>A (p.Ala330Thr) | |
| 7 | g.117540128G>C | CA368978008 | CFTR | c.898G>C (p.Ala300Pro) c.*795G>C (n.*795G>C) c.*722G>C (n.*722G>C) c.655G>C (p.Ala219Pro) c.808G>C (p.Ala270Pro) c.988G>C (p.Ala330Pro) | |
| 7 | g.117540128G>T | CA368978010 | CFTR | c.898G>T (p.Ala300Ser) c.*795G>T (n.*795G>T) c.*722G>T (n.*722G>T) c.655G>T (p.Ala219Ser) c.808G>T (p.Ala270Ser) c.988G>T (p.Ala330Ser) | |
| 7 | g.117540129C>A | CA368978014 | CFTR | c.899C>A (p.Ala300Asp) c.*796C>A (n.*796C>A) c.*723C>A (n.*723C>A) c.656C>A (p.Ala219Asp) c.809C>A (p.Ala270Asp) c.989C>A (p.Ala330Asp) | gnomAD v4 |
| 7 | g.117540129C= | CA1737331833 | CFTR | c.899C= (p.Ala300=) c.*796C= (n.*796C=) c.*723C= (n.*723C=) c.656C= (p.Ala219=) c.809C= (p.Ala270=) c.989C= (p.Ala330=) | |
| 7 | g.117540129C>G | CA164953433 | CFTR | c.899C>G (p.Ala300Gly) c.*796C>G (n.*796C>G) c.*723C>G (n.*723C>G) c.656C>G (p.Ala219Gly) c.809C>G (p.Ala270Gly) c.989C>G (p.Ala330Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540129C>T | CA368978017 | CFTR | c.899C>T (p.Ala300Val) c.*796C>T (n.*796C>T) c.*723C>T (n.*723C>T) c.656C>T (p.Ala219Val) c.809C>T (p.Ala270Val) c.989C>T (p.Ala330Val) | gnomAD v4 |
| 7 | g.117540130C>A | CA164953439 | CFTR | c.900C>A (p.Ala300=) c.*797C>A (n.*797C>A) c.*724C>A (n.*724C>A) c.657C>A (p.Ala219=) c.810C>A (p.Ala270=) c.990C>A (p.Ala330=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540130C= | CA1737331834 | CFTR | c.900C= (p.Ala300=) c.*797C= (n.*797C=) c.*724C= (n.*724C=) c.657C= (p.Ala219=) c.810C= (p.Ala270=) c.990C= (p.Ala330=) |